P52701
PR
Gene name |
MSH6 |
Protein name |
DNA mismatch repair protein Msh6 |
Names |
hMSH6, G/T mismatch-binding protein, GTBP, GTMBP, MutS protein homolog 6, MutS-alpha 160 kDa subunit, p160 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2956 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for P52701
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2GFU | NMR | - | A | 68-201 | PDB |
| 2O8B | X-ray | 275 A | B | 341-1360 | PDB |
| 2O8C | X-ray | 337 A | B | 341-1360 | PDB |
| 2O8D | X-ray | 300 A | B | 341-1360 | PDB |
| 2O8E | X-ray | 330 A | B | 341-1360 | PDB |
| 2O8F | X-ray | 325 A | B | 341-1360 | PDB |
| 6OQM | X-ray | 220 A | A | 87-198 | PDB |
| 8AG6 | EM | 280 A | B | 2-1360 | PDB |
| AF-P52701-F1 | Predicted | AlphaFoldDB |
3993 variants for P52701
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001021626 rs1553408068 RCV000530042 |
1 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569131 rs876660095 RCV000219646 RCV000485238 RCV000793054 RCV000680209 |
1 | M>I | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA073146 RCV002354992 RCV001039473 rs752887988 |
2 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572697714 RCV001027047 |
3 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA891843157 rs1558644683 RCV000694103 |
3 | R>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734469 RCV000629922 rs1553408074 |
3 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347051 rs1553408078 |
3 | R>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346734472 rs1553408078 RCV000566583 |
3 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069282 rs1553408078 RCV001178616 |
3 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201042 RCV001798562 RCV000199142 RCV000162425 CA008028 RCV000524100 RCV001353573 RCV002478495 RCV000202232 RCV001254934 RCV000202528 |
4 | Q>* | Carcinoma of colon Turcot syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346734477 rs1572697725 RCV000822335 |
4 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs532585602 RCV000562870 RCV000821829 CA346734484 |
5 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000549468 CA068021 RCV000759128 rs200944853 RCV000490967 |
6 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064795094 RCV000539596 RCV001187837 RCV000679220 CA16617615 RCV001194398 |
7 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679221 RCV002222543 rs1064795094 RCV000547511 CA346734493 |
7 | L>V | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002427080 RCV000825599 rs746306598 CA346734503 RCV002536057 |
8 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572697757 RCV000811278 RCV001015409 CA346734500 |
8 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572697757 RCV001051650 |
8 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000584405 CA346734497 rs781670952 |
8 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130571 rs41294986 RCV000235178 RCV000475467 RCV001527050 CA010478 |
9 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002436591 RCV001048576 rs1572697767 |
9 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016638 CA346734509 rs1572697773 RCV001873278 |
9 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734507 RCV001016350 rs1572697767 |
9 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1668110702 RCV003163717 RCV001222244 |
10 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985840 RCV002534049 CA011525 CA346734516 RCV000773055 RCV000164368 rs786201869 |
10 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012766 RCV000679237 rs747802641 RCV001264551 RCV001085290 RCV000166008 |
11 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002458395 RCV001856186 CA46687631 rs760603184 RCV000780472 |
12 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs760603184 RCV001177000 RCV002295330 |
12 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782084 RCV001316018 CA071083 RCV001020461 |
12 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000986696 CA013137 RCV000530606 RCV002281956 RCV000484580 rs587782084 RCV000130582 RCV000708849 |
12 | P>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs942019524 RCV000479706 RCV000575714 RCV000458039 CA16610862 |
13 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs41294988 CA346734528 RCV000567533 RCV000525094 |
13 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs942019524 RCV001179054 RCV002558898 CA46687657 RCV001192424 |
13 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000679240 RCV000771457 rs41294988 CA072266 RCV000458284 |
13 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA014649 RCV000662751 RCV000030274 RCV000627725 rs41294988 RCV001818192 RCV000569787 RCV000160705 VAR_038032 |
13 | K>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003221870 RCV000214023 RCV001058725 rs876660417 CA10578020 |
14 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662898 RCV000575547 rs863224628 RCV000196789 CA336718 RCV001564528 RCV003150088 |
14 | S>F | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000575336 rs776745497 RCV000824221 CA346734536 |
15 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000791386 rs869312800 CA357811 RCV001022587 RCV000210179 |
15 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001795287 RCV000164343 RCV000793874 rs776745497 CA015522 |
15 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001210838 rs1668112441 |
15 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339560 rs759501511 RCV001214582 |
16 | A>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563575 CA073037 rs759501511 RCV001218497 |
16 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553408119 RCV000546866 CA346734547 |
17 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734549 rs1553408122 RCV000629974 RCV000580185 |
18 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553408127 RCV000662770 |
19 | D>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024550 RCV001862292 rs752794296 CA346734562 |
19 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001024194 rs1572697844 CA915943787 RCV001349942 |
19 | D>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734560 RCV000528902 rs1553408133 |
19 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536800 RCV001189383 rs1553408136 RCV003139748 |
20 | A>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750664 RCV000524208 RCV000148647 VAR_043943 RCV000412384 RCV001353783 RCV001529757 RCV000115435 RCV000075009 CA015946 RCV000254665 |
20 | A>V | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal / endometrial cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) LYNCH5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346734569 RCV000985851 rs1223476490 RCV000689038 RCV001292699 RCV000575294 |
21 | N>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346734573 CA10578021 RCV000216301 RCV000479204 rs876660097 RCV000814244 |
21 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV000223132 RCV000586767 RCV001039949 rs267608025 CA016053 |
21 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473092 rs1060502897 RCV000582480 CA16610863 RCV000759152 |
22 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1668115116 RCV001049583 RCV003160386 |
22 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502912 RCV002230412 RCV002374796 CA16610864 |
23 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537973 RCV000565704 CA16617616 rs730881810 RCV000482378 |
23 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002366192 rs730881810 RCV001323413 |
23 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212626 RCV000464022 rs730881810 RCV000780487 RCV000160706 RCV001249978 CA016226 |
23 | A>T | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000694670 RCV001766497 RCV000774887 CA346734781 rs1060502912 |
23 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016332 RCV000164092 RCV000808381 rs786201684 |
24 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002559997 RCV001187885 rs35462442 |
25 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608026 RCV001327687 |
25 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016371 VAR_067294 RCV000417385 RCV001082180 RCV000115442 RCV000075031 rs267608026 RCV000524214 RCV000765674 |
25 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000160737 rs35462442 VAR_038033 RCV001187162 CA016416 RCV001240031 |
25 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16611071 rs757622849 RCV000468207 RCV000564743 |
26 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178974 rs1395190094 RCV002558893 |
26 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472227590 CA346734792 RCV001052925 |
26 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000530099 rs1553408158 |
27 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177109 rs1668116875 RCV001284309 |
27 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294367 rs1668116728 |
27 | A>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1668116728 RCV001339397 |
27 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542898 CA073484 rs750949635 RCV000567017 |
28 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002424909 CA346734803 rs1223620783 RCV000811986 |
28 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346734808 RCV000796511 RCV000568043 rs756589186 |
29 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346734807 RCV001181391 RCV000629908 rs756589186 |
29 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000701751 rs1558644886 |
30 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539227 CA346734812 RCV000775003 rs1445690889 |
30 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000573405 rs1445690889 CA346734813 RCV000703961 |
30 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346734821 RCV000561350 rs1553408183 |
31 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000663156 RCV000480324 RCV000198127 CA073625 RCV000564851 rs776859837 |
32 | G>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000708720 rs771426932 CA073654 RCV001238728 RCV000479170 |
32 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771426932 RCV000487312 RCV000630215 RCV000566154 RCV001798853 CA16617617 |
32 | G>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1668118988 RCV001049297 |
33 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043688 RCV000160708 RCV000490935 CA016738 rs730881811 |
33 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000695232 RCV000772889 CA346734830 rs878853751 |
33 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000575454 RCV000487300 CA10582031 rs878853751 RCV000230339 |
33 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000583826 rs730881811 CA346734828 RCV000685964 |
33 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746624223 CA346734835 RCV000584549 |
34 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000519680 RCV001857967 rs1553408194 RCV000775858 CA346734831 |
34 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491831 RCV001856941 CA067035 rs746624223 |
34 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001009751 RCV000823476 rs1572698011 |
35 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860612 CA346734838 RCV001009770 rs1572698023 TCGA novel |
35 | A>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1572698023 RCV001862757 RCV001009768 CA346734836 |
35 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776547943 RCV000480657 RCV000765675 RCV000573037 RCV001192488 RCV000461408 CA067076 |
35 | A>V | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515699 rs759589301 CA067112 RCV000213928 |
36 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000226897 RCV003153411 RCV000128922 RCV000412094 CA007963 RCV000708850 RCV000780475 RCV000220784 RCV003149883 rs61756469 RCV001356921 |
36 | A>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002397345 rs1553408197 RCV000663313 |
37 | A>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775487116 RCV001017294 CA346734848 |
37 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775487116 CA067152 RCV001223023 |
37 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002256338 RCV000549291 rs763104308 CA067167 |
37 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000707589 rs1553408211 RCV000573137 CA346734858 RCV001175449 |
38 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764009461 CA067184 RCV001040637 RCV000479105 RCV000575631 |
38 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1042821 RCV000823347 RCV002329143 CA067248 RCV000480607 |
39 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1042821 RCV000035318 RCV000144626 RCV000034489 RCV000609254 RCV001079921 RCV001262327 VAR_004490 COSM3749667 RCV001353505 CA008209 RCV000030258 RCV000132091 |
39 | G>E | lung Carcinoma of colon Breast carcinoma large_intestine Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000663030 RCV000566299 RCV001570489 RCV000805474 CA067220 RCV000459919 RCV000567789 RCV000481267 rs751838296 RCV001721501 CA067226 |
39 | G>R | Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1042821 RCV000581415 CA346734861 |
39 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166045 rs1558644995 RCV000773559 |
40 | A>missing | Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341252 RCV000558304 rs754231971 CA067292 |
40 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002230405 CA16611073 rs754231971 |
40 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000581858 RCV000662712 CA346734863 RCV000543486 RCV000781584 rs754231971 |
40 | A>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876658985 RCV001218369 |
41 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658985 RCV001183945 |
41 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578022 RCV002518294 RCV000221021 rs876658985 |
41 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539496 CA346734876 RCV000563291 rs34014629 |
42 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000562643 RCV001865722 rs1553408229 CA346734880 |
42 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001776187 rs1553408229 RCV001313375 |
42 | P>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001719808 RCV000422207 RCV000410444 RCV000524105 RCV000131942 rs34014629 RCV001354476 RCV003149716 CA008371 COSM35885 |
42 | P>S | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 breast Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781203386 RCV002379870 RCV001228008 |
43 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770678180 RCV001233688 |
43 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000198916 rs863224615 CA338295 RCV000570887 |
44 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346734892 RCV001349550 rs1558645097 |
44 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734890 RCV000699876 rs1558645097 |
44 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576857 rs1553408245 |
45 | G>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057562 rs1114167802 RCV000491335 CA346734900 RCV001328326 |
45 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000758663 CA346734898 rs978968846 RCV002386319 |
45 | G>C | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs978968846 CA346734897 RCV000774988 RCV000629960 |
45 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46688123 RCV001237778 rs978968846 |
45 | G>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000773442 rs1114167802 CA346734899 |
45 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001011262 rs1572698161 CA346734907 |
46 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575386 RCV000765676 CA337552 RCV000765677 RCV000204112 RCV000484712 RCV000561391 CA348361 RCV000197947 RCV000663157 rs863224616 |
46 | G>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA |
|
rs876658278 RCV000214297 CA10578024 |
48 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001176648 rs1572698169 |
48 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011540 RCV001229079 rs1572698169 CA346734920 |
48 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658278 CA346734924 RCV000701579 |
48 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs745642001 RCV001339413 |
49 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745642001 RCV002388380 RCV000759126 CA067698 |
49 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775498550 CA067716 RCV000233115 RCV000773125 |
49 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471165 CA10578025 CA346734938 RCV000662729 RCV000222952 rs876659674 |
50 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002281987 CA008708 RCV001358151 rs374597395 RCV001548024 RCV000203855 RCV000166759 |
50 | W>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV003222014 RCV002395278 CA346734941 RCV000550027 rs1553408276 |
51 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734944 rs1284504549 RCV001203220 RCV000777354 |
51 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000526938 RCV003222015 CA067823 rs762061869 RCV002404365 |
51 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491318 RCV001383954 rs1114167719 CA346734949 |
52 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244039 RCV002402777 rs1114167719 |
52 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001805864 rs1114167719 RCV000795763 CA346734948 |
52 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853707 CA10582032 RCV002229652 |
52 | E>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553408288 RCV001349167 CA346734958 RCV000564219 |
53 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751098 RCV000662366 RCV000630046 RCV000160718 RCV000759127 RCV000074671 CA008922 VAR_043944 RCV000212627 |
54 | G>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome CRC; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000699652 rs1558645195 |
55 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346734975 rs1342218617 RCV000705018 |
55 | P>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1342218617 RCV000581523 CA346734977 RCV001853924 |
55 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346734985 rs1572698275 RCV001187791 RCV001052611 TCGA novel RCV000985825 |
56 | G>E | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA346734982 RCV001012655 CA346734981 rs1254951576 RCV001012653 |
56 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346734983 rs1254951576 RCV000702661 |
56 | G>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000215541 rs876658296 |
57 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491173 rs1553408267 |
57 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774584 rs773367009 CA068014 RCV001873147 |
57 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553408302 RCV000580316 |
57 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617618 RCV000538832 RCV000487030 rs1064793657 RCV000776541 |
57 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1064793657 CA346734993 RCV000582708 RCV000526386 |
57 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001207892 rs773367009 |
57 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629952 rs1553408306 RCV001181392 |
58 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000803974 RCV000572726 rs876661161 RCV000213272 |
58 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553408313 RCV001048848 |
58 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617619 rs1064795187 RCV000589896 RCV001851212 RCV001012938 |
58 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411978 rs1668129135 RCV001305575 |
59 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482176 RCV000560960 CA068115 rs761033647 RCV000557696 |
59 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000582619 RCV001420817 rs761033647 RCV000630169 CA009135 RCV000184046 |
59 | P>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346735009 rs35819209 RCV000774981 |
60 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057524911 CA16609275 RCV000445517 RCV002411422 |
61 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001585703 rs572336612 CA068179 RCV000776160 RCV000792082 |
61 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699737 RCV003139709 rs876659508 CA46688293 RCV000570549 RCV000765678 RCV000506061 |
62 | R>C | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16610871 RCV000464449 rs867979237 RCV002411491 |
62 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578028 RCV000816100 rs867979237 RCV000223110 |
62 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582033 RCV000230135 rs867979237 |
62 | R>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578027 rs876659508 RCV001705217 RCV000697068 RCV000219210 |
62 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000629755 rs763702846 RCV000759848 CA346735021 RCV000562024 |
63 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779920 RCV000761153 RCV000572922 RCV000459237 CA16610836 |
63 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs763702846 RCV000217423 RCV000206061 CA068241 RCV000765679 RCV000656886 RCV000663184 RCV000491346 |
63 | S>P | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000629740 rs763702846 CA346735020 |
63 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779920 RCV000115385 CA009399 RCV000477543 RCV000771299 RCV000663251 |
63 | S>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553408348 CA346735026 RCV000569241 |
64 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759850 CA009439 RCV001041141 rs587779921 RCV000214011 |
64 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000128983 CA009433 RCV000531333 rs587779921 |
64 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000580961 RCV001545726 RCV000806338 CA346735029 rs1553408350 |
65 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074698 RCV000568962 RCV000160709 CA009482 RCV000524128 VAR_038034 rs41294984 |
65 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1572698406 RCV001013875 CA346735033 |
66 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485693 RCV000470612 rs730881812 CA16611077 RCV000776536 |
66 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000160710 rs730881812 CA009510 RCV000811656 RCV000573868 |
66 | P>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346735035 rs730881812 RCV000773211 |
66 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558645344 RCV000773020 CA346735040 |
67 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853712 RCV000702658 CA346735037 |
67 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000227237 RCV000567571 CA10582034 RCV001559419 rs878853712 |
67 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA337166 rs863224620 RCV000197369 RCV000563728 |
68 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346735048 rs1382081255 RCV000560128 RCV001014271 |
69 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346735053 RCV000688726 rs1558645360 |
69 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224621 RCV000445836 RCV001589077 CA338570 RCV000199329 |
70 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1668133034 RCV002418955 RCV001315608 |
70 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556640 rs1553408369 RCV001755781 RCV000777239 |
70 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804817 CA346735062 rs1558645379 |
71 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558645379 CA346735061 RCV000693238 |
71 | N>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630028 RCV000566400 rs1553408375 CA346735064 |
71 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662769 rs1553408380 |
72 | L>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014597 RCV001210154 rs786201910 CA346735070 |
72 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA009760 rs786201910 RCV001361392 RCV000164433 |
72 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002483526 CA346735083 RCV000569470 rs1553408388 RCV000695473 |
74 | G>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346735091 RCV001014929 rs1572698482 |
75 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346735090 rs1572698482 RCV001014925 RCV001216635 |
75 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA068652 RCV001014883 rs781002816 |
75 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000568487 CA346735093 rs1553408398 |
76 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001571959 RCV000122956 rs587780672 CA009942 RCV000561634 |
76 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001186574 rs587780672 |
76 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346735094 RCV000773620 rs1553408398 |
76 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46688481 RCV001030486 RCV001071207 RCV000568364 rs1039603215 |
77 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759131 RCV000525000 CA068784 RCV000561728 rs745442468 RCV003153676 |
77 | R>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001544900 RCV000555505 RCV000580387 CA346735100 rs1553408408 |
78 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203940 RCV001030487 RCV001139580 RCV001174583 RCV000561944 rs864622425 CA348221 |
78 | R>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000557304 RCV000581182 RCV001755782 CA346735110 rs1428717797 |
79 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001762496 RCV001362758 rs876660300 RCV000213227 CA10578029 |
79 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779239 RCV000630198 RCV001186069 CA346735118 |
81 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779239 CA010236 RCV000780462 RCV000487781 RCV000627691 RCV000213900 RCV000074747 |
81 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000412014 RCV000588221 RCV000115391 rs587779924 CA010271 RCV000477204 |
81 | A>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1668136752 RCV001227496 |
83 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041899 RCV002431398 RCV000479690 rs876661197 CA16617620 |
83 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015680 RCV000700193 RCV000586562 CA10577249 rs876661197 |
83 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002469301 RCV000822716 rs755964436 CA069104 RCV001015640 |
83 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346735130 rs876661197 RCV001015682 |
83 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015771 rs1553408435 RCV001049657 CA346735138 |
84 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553408435 RCV000573273 RCV001205595 CA346735136 |
84 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229669 RCV000491394 RCV001354734 RCV001572461 CA10582035 rs878853717 |
84 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610837 RCV000467152 RCV001181989 rs1060502945 RCV001753899 |
85 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204386 RCV000482986 CA069156 RCV000575872 rs779664343 RCV000986699 |
85 | P>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001015931 RCV000479132 rs1064793183 |
86 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553408448 RCV001213139 RCV000662815 |
86 | T>missing | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572033 CA46688635 rs768444916 RCV001566523 RCV002265801 RCV000629809 |
86 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000759135 RCV002458364 CA346735165 rs1553408451 |
86 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346735167 rs1553408451 RCV000630043 |
86 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001751475 RCV001240984 CA069212 rs768444916 |
86 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000484144 RCV001295055 CA16617622 rs1064793939 |
87 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001061990 rs1064793939 |
87 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346735191 RCV000491429 RCV001856940 rs1114167734 |
87 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572708527 CA346736428 RCV001016170 RCV001213238 |
88 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610881 rs1060502911 RCV000581037 RCV000458426 RCV002307505 |
88 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000662780 RCV000491184 rs762818044 RCV000204000 CA069427 RCV000587576 COSM1130775 |
89 | D>E | Hereditary cancer-predisposing syndrome prostate Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000700719 rs1311655109 RCV000579839 CA346736465 |
89 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1668683890 RCV001047711 |
89 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320290 RCV000580657 rs1311655109 CA346736463 |
89 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001753616 RCV002433906 RCV000204456 CA348676 rs864622559 |
91 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346736532 rs1257646433 RCV000708851 RCV000817084 RCV001284523 RCV000574933 |
92 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346736569 rs1553410216 RCV000574883 |
94 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824164 CA346736566 rs1553410216 |
94 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165188 rs786202397 RCV000630219 CA010990 RCV003105803 |
95 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1668685873 RCV001323529 |
95 | L>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218171 rs984265203 CA46697243 RCV001181309 |
96 | V>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1572708589 RCV001017506 CA346736648 RCV001052562 |
97 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985837 rs1572708580 RCV001386189 |
98 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582036 RCV001762515 rs878853725 RCV000226441 |
98 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853725 RCV001181664 |
98 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1021255 CA011253 rs63751258 VAR_043945 |
99 | K>N | Variant assessed as Somatic; impact. endometrium CRC; unknown pathological significance [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001189528 rs1668687042 |
99 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795198 CA346736720 RCV002440637 rs1572708607 |
100 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325335 RCV000662582 CA346736807 RCV001390324 rs1553410230 |
103 | Y>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA070032 RCV001018538 rs777900107 |
103 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758303780 RCV001018503 CA070019 |
103 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001018708 rs1572708628 CA346736824 |
104 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558651940 CA346736813 RCV001057650 RCV000771754 |
104 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572708636 RCV002325536 RCV000800810 |
105 | W>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346736853 rs1060502902 RCV000569885 |
105 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502902 CA16610883 RCV002323733 RCV002230409 |
105 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777030 rs1558651950 CA346736850 RCV001321085 |
105 | W>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821946 RCV002319911 CA346736914 rs1572708652 |
106 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000550992 RCV000580039 CA346736867 CA346736864 rs1410755308 |
106 | W>R | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000562799 RCV000590544 RCV000234256 CA10582037 rs878853732 |
107 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1668689651 RCV001303029 RCV001178981 |
108 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002325497 CA346736932 RCV000792400 rs1572708660 |
108 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775776 RCV001856832 CA16617625 RCV000479425 rs1064793870 |
109 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001293498 CA10578032 RCV000696226 RCV000218990 rs876659374 |
110 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038779 rs1668690263 |
111 | Y>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1668690176 RCV001044999 |
111 | Y>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843493 RCV000986700 RCV000491364 RCV000204549 RCV000708852 CA348775 rs864622397 RCV001753613 |
112 | N>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hepatoblastoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346736958 rs1182444882 RCV000575269 RCV000781599 RCV000537161 |
112 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587779934 RCV000656887 RCV000122964 RCV001355172 RCV000524173 CA012677 RCV000212629 RCV000115414 |
112 | N>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003168830 CA16610841 RCV002230110 rs587779934 |
112 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001776198 rs886056141 CA346736965 RCV001325901 RCV001020193 |
113 | H>Q | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001020141 CA346736960 RCV002550855 rs1572708687 |
113 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349004 rs863224626 RCV000197509 CA337267 RCV000771515 |
114 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181273 rs1668691074 |
114 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773726 CA346736976 rs781271765 |
115 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000569512 CA070972 RCV001209697 rs781271765 |
115 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346736982 RCV001355964 RCV001861735 RCV000664277 rs1553410255 |
116 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502871 CA16610842 RCV002230100 |
116 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001875991 RCV001180495 rs1668691850 |
117 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346736986 RCV000704972 RCV000777138 rs1558652014 |
117 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858112 RCV000571824 rs746060136 CA071156 |
118 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002458430 rs1473648816 RCV000795822 |
119 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071722 rs1668692410 |
119 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611094 rs1060502893 RCV002230407 |
119 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346737003 RCV001020649 RCV000773215 RCV002536644 CA346737002 rs1298565919 |
119 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000772406 rs1558652032 CA346736998 RCV002536628 |
119 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208053 rs1114167776 RCV000785437 RCV000491955 RCV001726195 |
120 | I>missing | Hereditary cancer-predisposing syndrome Neoplasm of ovary Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214442 rs775971872 RCV000629813 RCV000986701 CA071457 RCV000708853 RCV000589961 |
120 | I>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146455343 RCV000220118 RCV000551454 CA10578033 |
120 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000483247 RCV000567183 RCV001193121 RCV000662497 CA071503 rs763593669 RCV001762435 RCV000205461 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002475965 RCV001249983 CA071525 rs769279475 RCV001020758 RCV001041513 RCV001764470 |
121 | R>H | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000700337 CA346737016 rs1558652077 RCV002458283 |
122 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013730 rs143036974 RCV000212630 RCV000197561 RCV000160719 RCV000780470 RCV000776349 RCV000411966 |
122 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051140 CA346737020 RCV000774973 rs1466067357 |
123 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013907 RCV000590479 RCV000202268 rs587782106 RCV000130622 RCV000807593 |
123 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553410286 RCV001020970 CA346737029 |
124 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001320486 CA346737028 RCV000567513 rs1553410286 |
124 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214671 rs786203479 RCV000166798 CA013918 |
124 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629687 rs1553410286 CA346737030 |
124 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553410300 RCV000630189 |
125 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA071937 RCV001225366 RCV000573451 rs372352774 |
125 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167689 CA346737042 RCV000703232 RCV000491879 |
126 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183694 rs1668695908 |
127 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1668695908 RCV001185378 |
127 | V>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346737044 RCV000818827 rs1553410307 RCV000562491 |
127 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1251938412 RCV003153678 CA346737052 RCV000551898 RCV000776879 |
128 | R>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001057469 RCV000985848 RCV000222545 CA10578034 rs63750143 |
128 | R>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002265595 RCV000765680 RCV000545223 CA014504 RCV000074941 RCV000165162 VAR_043946 rs63750143 RCV000485426 |
128 | R>L | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572708884 RCV000798767 CA346737054 |
129 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002357116 rs1572708884 RCV001307424 |
129 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482046 CA16617626 rs1064793184 RCV001183214 RCV000553070 |
130 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001317709 rs1668697036 |
130 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002356928 RCV001218061 rs1668697788 |
131 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765060096 RCV001244525 CA072296 |
131 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
rs1668698146 RCV001183686 RCV001221843 RCV001355819 |
132 | Q>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699082 RCV002352177 rs587782101 CA346737073 |
132 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691637 rs587782101 CA014803 RCV000130614 |
132 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204445 CA348670 rs864622216 RCV000491965 |
132 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164894 rs786202193 |
133 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572708938 CA346737089 RCV001021680 |
134 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057524912 RCV002356629 RCV000445393 |
135 | D>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1230586400 CA346737099 RCV000800438 |
135 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001046083 rs1668699343 |
135 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343938 rs1668699972 |
137 | S>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1668700091 RCV001066336 RCV002327350 |
138 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484025 rs991924818 RCV000550671 CA16617627 RCV000777251 |
139 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001049078 rs1443147770 RCV002327296 |
139 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661293 RCV000214200 RCV000526661 CA10577250 RCV002327097 |
140 | R>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346737132 RCV001022061 rs1553410345 |
140 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661293 RCV001022031 CA346737131 |
140 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567154 rs1553410342 |
141 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539104 rs1114167728 RCV000759150 RCV000491743 |
142 | W>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144625 CA015491 RCV000074987 rs63750342 RCV002326786 |
142 | W>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179689 rs1668701906 |
144 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034501 RCV000606030 RCV001798061 RCV000121570 rs3211299 RCV000148642 RCV000074988 RCV001081952 CA015503 RCV001198193 VAR_012955 RCV001353551 RCV000130532 |
144 | S>I | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome LYNCH5 and CRC; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346737166 rs1321666742 RCV001779017 RCV000581061 RCV001284187 RCV000797264 |
145 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346737170 RCV000574844 rs1553410372 RCV001048052 |
146 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001022457 RCV000657399 RCV003139658 RCV000463357 RCV002331286 rs1060502875 |
148 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346737193 RCV000531579 RCV002329260 rs1553410379 TCGA novel |
149 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs1668702984 RCV001234371 |
149 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757311007 RCV001295896 |
150 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131442 RCV000198664 rs587782406 CA015541 RCV000507959 |
150 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578035 RCV000216094 rs876659649 |
151 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460187 rs1060502904 CA16611101 RCV002339175 |
151 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502904 CA346737199 RCV000551941 |
151 | Y>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346737202 RCV001022640 rs876659649 |
151 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346737210 rs1553410385 RCV002334313 RCV000695520 |
152 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857253 RCV000506346 RCV003159642 CA346737208 rs1553410385 |
152 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302051 rs1251899870 |
153 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002334421 rs1060502885 CA346737211 RCV000758620 |
153 | G>C | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346737213 RCV002334052 RCV000629857 rs1060502885 |
153 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230105 CA16610857 RCV001355892 RCV002339174 rs1060502885 |
153 | G>S | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001805232 rs1553411391 CA346738562 RCV000629824 |
154 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669051626 RCV001054631 |
154 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808014 CA346738566 rs1276159036 |
155 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346738565 RCV001022826 rs1276159036 RCV001344529 |
155 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346738564 rs1276159036 RCV000702283 |
155 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000172813 RCV000201956 RCV000576312 RCV000490955 RCV000075003 CA015662 RCV001357340 rs63749873 RCV000524207 |
156 | S>* | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002339232 rs1572716094 RCV001045928 |
157 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610916 rs1060502923 RCV002230415 |
157 | K>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001862240 CA346738577 rs1572716094 RCV001022914 |
157 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115431 RCV000477380 rs587779941 RCV000491425 |
158 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669052883 RCV001298025 |
158 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001786427 RCV001023005 RCV001862245 CA346738594 rs1553411396 |
159 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858309 RCV000565483 rs1553411396 CA346738592 RCV000758664 |
159 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000586380 CA015692 rs587778528 RCV000457237 RCV000121571 RCV000215694 |
159 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000490864 CA346738597 RCV001062160 rs1114167692 |
160 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015704 RCV000167048 rs786203645 |
160 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346738601 RCV000558363 rs1553411397 |
160 | Q>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023065 RCV001862250 rs1553411397 CA346738600 |
160 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809283 RCV003166283 CA346738602 rs1553411397 |
160 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214149 rs876660583 CA10578036 |
162 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346738614 RCV001302052 rs1183989693 |
162 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776065389 RCV002339581 RCV001220089 |
163 | G>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA073044 rs776065389 RCV001062327 RCV000561865 |
163 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000579459 rs1553411405 CA346738621 |
163 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468439 RCV001023262 rs146469162 CA073064 RCV001551754 |
164 | H>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000656888 RCV001085010 rs146469162 RCV000131540 RCV000212631 CA015726 RCV000662620 |
164 | H>P | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000215845 rs763841886 CA073070 RCV000534390 RCV001762481 |
165 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000566494 rs1553411409 |
166 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070468 rs587779313 |
166 | Y>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669056194 RCV001230348 |
166 | Y>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348831 rs1669056436 |
167 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774162322 RCV000657018 RCV000230583 RCV000485808 RCV000662903 RCV003150015 CA015744 RCV000164360 |
168 | A>G | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1333393611 RCV001314796 CA346738652 |
168 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774162322 RCV001526810 CA346738653 RCV000571714 |
168 | A>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000566914 CA073090 rs767474992 |
169 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA46703263 RCV001525313 rs985845102 RCV000691277 |
170 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10582040 RCV000234715 rs878853748 |
170 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306859 rs876661145 RCV000219429 CA10577252 RCV001023590 |
171 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001060090 RCV002348438 rs1558656518 |
171 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558656518 RCV000758665 CA346738665 |
171 | E>Q | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188409 rs1669058072 |
172 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779942 RCV000115432 RCV001854550 CA015767 |
172 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553411419 RCV001193726 RCV000546537 |
173 | L>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553411421 RCV000571252 CA346738678 RCV000559263 |
173 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608037 RCV000075006 |
174 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214908 RCV000579506 CA346738682 rs1405000889 |
174 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001337371 rs863224629 RCV000409062 RCV000200532 RCV000491997 CA339365 |
174 | R>K | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV002348455 rs1669058948 RCV001063414 |
175 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611103 rs1060502929 RCV002230417 |
175 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346738692 rs1060502929 RCV000659886 |
175 | A>V | Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000561763 RCV000820783 RCV000506240 CA346738696 rs1553411432 RCV001775834 |
176 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015793 rs750327994 RCV000167309 RCV000535861 |
176 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669059418 RCV001039925 |
177 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701746 CA10615504 RCV000573913 rs886056142 RCV000270625 |
177 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553411434 RCV000613418 RCV001023898 CA346738706 |
177 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217717 RCV000160711 RCV000986705 CA015802 RCV000456306 rs730881813 RCV000781604 RCV001030488 |
178 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs730881813 RCV001316059 CA46703291 |
178 | R>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000220140 CA015812 RCV000168249 RCV000411795 RCV000759151 RCV000781571 RCV001355537 rs786204186 COSM1021257 |
178 | R>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000570685 rs786204186 RCV001844201 RCV001070096 CA346738710 |
178 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000548357 RCV000411167 CA015824 rs587781817 RCV000130091 |
179 | A>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208159 RCV000702818 rs1800935 CA346738723 |
180 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000563442 CA658655696 rs1553411441 |
180 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179136 rs1553411440 CA346738716 RCV000629686 |
180 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758600 CA346738726 rs1558656620 |
181 | E>A | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024076 rs569728764 COSM3426486 CA073121 |
181 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001201828 rs1558656620 |
181 | E>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708854 RCV000809847 RCV002343578 CA346738735 rs876659786 |
182 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1441208044 RCV001203354 CA346738731 |
182 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000220124 rs876659786 CA10578038 |
182 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001851234 rs1023534466 RCV000777252 RCV000484187 |
184 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669062226 RCV002348658 RCV001202948 |
184 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345258 RCV000030276 CA015852 rs193922344 |
185 | K>E | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706803 CA346738756 rs1558656651 |
185 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774588 rs587779943 CA015863 RCV000697475 RCV000115433 |
186 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001183597 rs1212607928 |
186 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346738760 rs1212607928 RCV002282232 RCV000573478 RCV000690065 |
186 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000758601 CA346738758 rs1212607928 |
186 | D>Y | Variant assessed as Somatic; 0.0 impact. Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000629881 rs1553411459 CA346738769 |
187 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669063357 RCV001063388 |
188 | I>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558656660 RCV001185573 RCV001862916 |
188 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166981 rs786203597 CA015872 RCV001223107 |
189 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572716371 RCV000811340 |
189 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824111 CA346738783 RCV000575943 rs1060502889 RCV002271528 |
189 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16610919 rs1060502889 RCV001024386 RCV000459392 |
189 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346738788 rs1558656670 RCV000777046 |
190 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215585 rs1669064280 |
191 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558656674 RCV000785579 |
192 | E>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193128 RCV002288709 RCV000162426 RCV000480253 RCV000231303 rs587782281 |
193 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774589 RCV001854551 RCV000115434 CA015896 rs587779944 |
193 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346738815 RCV002352130 RCV000689114 rs1558656693 |
194 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553411480 RCV000580057 RCV001338817 CA346738819 |
195 | V>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227980 CA015915 RCV000166348 RCV001193122 rs267608038 |
195 | V>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346738818 RCV002551899 rs267608038 RCV001024589 |
195 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs78939940 RCV001302027 |
196 | C>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346738832 RCV000573234 rs1553411488 COSM1408288 |
197 | D>G | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002483771 RCV000630129 CA46703403 rs148517241 RCV001024658 COSM48573 |
197 | D>H | lung Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP |
|
rs148517241 RCV001024657 COSM1408287 CA346738829 RCV001214467 |
197 | D>N | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP |
|
rs1553411490 RCV000584166 RCV000630119 CA346738836 COSM1408289 |
198 | E>K | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA346738845 rs1475759670 RCV001070234 |
199 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002510790 CA015926 rs587782315 RCV000131212 RCV000477097 |
199 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000790733 rs1572716454 |
200 | S>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491993 rs63751077 CA10577254 RCV000075008 CA015935 RCV000692262 RCV000217643 |
200 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000487037 CA16617631 RCV001851181 RCV000565541 rs1064794301 |
202 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610920 rs367644746 RCV000463509 |
202 | P>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178980 rs1064794301 |
202 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669066494 RCV001295293 |
202 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219212 rs536686679 |
203 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558656767 CA346738885 RCV000777012 |
205 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352357 RCV001185445 rs1669067746 |
205 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1322095633 RCV000791336 CA346738899 |
207 | E>* | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000580450 RCV000630054 rs1553411509 RCV001222040 CA346738904 |
207 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000563674 rs1322095633 RCV001853716 CA346738897 |
207 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001025045 rs1060502878 RCV000457128 CA16611104 |
208 | M>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000765681 RCV000554644 RCV000131629 rs369058374 CA015995 |
208 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769312569 RCV001187892 |
209 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747477669 RCV001051271 |
209 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201431515 RCV002360499 RCV000630050 CA073272 |
210 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001206270 RCV002365930 rs936063254 RCV002462357 |
210 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574496 rs1553412041 |
211 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204153 CA346739213 RCV000571498 |
211 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016062 rs786204153 RCV000168148 RCV000491227 |
211 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578040 RCV002519702 rs876659637 RCV000214369 |
212 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000663154 rs876659071 RCV000555550 RCV002280111 RCV000215713 CA10578041 |
213 | T>P | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000571391 rs1553412064 RCV003128159 |
214 | Y>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000075015 CA016077 RCV001025256 RCV000075016 RCV000703480 RCV000485263 RCV001071476 RCV002477214 rs1800937 RCV003162479 CA016086 |
214 | Y>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000531010 rs1553412048 |
214 | Y>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190341 RCV001071512 RCV000115437 CA016108 rs587779946 |
215 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000220344 CA073285 RCV000197162 RCV000663025 RCV000761118 RCV001699153 rs145959653 RCV000582427 |
215 | V>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1669239621 RCV001231129 |
215 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611108 CA073290 RCV003148860 RCV003117558 rs145959653 RCV000773188 RCV001025268 RCV000467186 |
215 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000819777 rs1572719776 |
216 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588780 CA073299 rs765195534 RCV000216919 RCV000204219 |
216 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001231113 rs1669240720 RCV002356993 |
217 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001535792 RCV000131354 CA016133 RCV000212632 rs554012110 RCV000167904 RCV000708856 RCV000411184 RCV001355774 RCV001193124 |
217 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs950036621 RCV001180756 RCV001876000 |
217 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486338 rs63750471 CA016118 RCV000129996 RCV000524210 |
217 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025338 rs950036621 CA46706527 |
217 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000075019 CA016159 RCV001355616 rs587779315 RCV001386352 RCV002362702 |
218 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669241633 RCV001190923 |
218 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164144 CA016166 rs764478569 RCV000629676 |
220 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000986708 RCV000075020 rs1800938 RCV001083284 RCV000200987 RCV000115439 RCV000586585 RCV001762184 CA016176 VAR_012956 RCV002498360 |
220 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA073311 RCV000206769 rs764478569 RCV000216982 |
220 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000545003 RCV001755784 RCV000583659 rs1553412079 RCV000570095 |
221 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001353587 RCV002560801 VAR_042274 RCV000588752 RCV001798257 RCV001180419 RCV001083709 RCV000659887 RCV000121575 CA016186 RCV000115440 RCV001762185 RCV001564013 rs41557217 |
221 | E>D | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 5 Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs1669242170 RCV001227513 |
221 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA073319 RCV001856091 RCV000774590 rs757817018 RCV002285413 |
221 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000824128 rs1572719886 CA346739389 |
222 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190342 rs750827951 CA073329 |
222 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001299370 rs1669243103 |
222 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700018 rs750827951 CA346739386 RCV002360792 |
222 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001355754 RCV000223134 RCV001201254 rs374041375 RCV000228836 CA073334 |
223 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500727 RCV000629721 RCV000579865 rs587779316 RCV001775568 CA016204 |
223 | N>S | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002365649 RCV002230124 CA16610867 rs1060502933 |
224 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217649 rs572317219 CA10578042 RCV001364163 |
225 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs1553412096 RCV000793402 CA346739438 |
225 | I>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412096 CA346739440 RCV000582921 |
225 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016211 rs587781777 RCV000130018 RCV000804545 RCV000410453 |
226 | E>G | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001068185 RCV000165966 CA016218 rs786202905 |
227 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016239 RCV000075024 rs587779317 |
227 | S>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000780484 RCV000220490 RCV000545909 rs587779317 CA016232 RCV000160654 |
227 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA016246 RCV000566072 RCV000115441 rs587779947 RCV000466432 RCV000410116 |
228 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016255 rs587782591 RCV000630110 RCV000131930 |
229 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218922 rs876660694 RCV000213373 CA10577257 |
229 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669245178 RCV001062942 RCV002365744 |
230 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025804 rs1572719960 RCV002551936 CA346739932 |
231 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572719974 RCV000794279 |
232 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000075025 RCV002362703 rs587779318 RCV001383732 RCV000412800 CA016261 |
232 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572720016 RCV000801765 |
232 | Q>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686486 rs1558658971 |
233 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412120 RCV000572959 |
233 | P>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142949377 RCV001206362 RCV002365931 |
233 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000663288 CA016269 RCV000131704 RCV000557767 RCV000212633 rs142949377 |
233 | P>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000772462 rs1558658986 CA346739969 |
234 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558658980 RCV000703058 |
235 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669246481 RCV001062411 |
235 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000584251 CA346739977 rs1553412133 |
235 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002508234 RCV001250433 rs1553412129 RCV000629675 RCV000581631 |
236 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002362704 rs63750996 RCV000075026 CA016297 |
236 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750996 RCV001239065 |
236 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346739986 rs1322117538 RCV000566216 RCV001051535 RCV000550811 |
236 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed |
|
rs63750996 RCV001217719 RCV001181922 |
236 | Q>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002362705 RCV000075027 rs587779319 |
237 | G>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000526816 rs1424907900 CA346739987 |
237 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001185935 CA346739992 rs1558659010 |
237 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782510 RCV000815193 CA346739996 RCV000776835 |
238 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669247534 RCV001236866 |
238 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214572 RCV000131657 CA016318 RCV000656889 RCV000472070 rs587782510 RCV001762313 RCV000410793 |
238 | S>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002288564 CA016325 RCV001358367 RCV000220361 rs63750019 RCV000657653 RCV000075028 RCV000704209 COSM227218 RCV001310159 |
240 | R>* | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome skin Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs63750019 RCV000798610 CA346740005 |
240 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000659888 RCV000216536 rs542848931 RCV000481509 RCV000476259 CA073373 RCV000781606 |
240 | R>Q | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001247032 rs769962086 |
241 | S>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572504 RCV000467892 rs1060502906 CA16611109 |
241 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213678 rs1060502906 |
241 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558659056 RCV000701122 |
242 | S>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564649 RCV000692405 CA346740020 RCV000997141 RCV000568003 CA346740022 RCV002463719 rs1553412151 RCV001209236 |
242 | S>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000507572 RCV002230119 CA16610926 rs1060502925 |
242 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153428 rs377216828 RCV000464603 RCV000480539 RCV000410426 RCV000132028 CA016337 |
243 | R>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000160655 RCV000459365 RCV000568587 rs370157832 RCV001270441 RCV001030489 CA016346 |
243 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377216828 RCV002379995 RCV001297174 CA073384 |
243 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000984323 CA016353 rs267608066 RCV002513799 RCV000075029 RCV003144122 RCV002381377 |
244 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319430 rs774496371 |
244 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026289 RCV000657010 RCV000204923 CA073402 rs762168786 RCV000485879 RCV001142203 |
245 | I>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535308 RCV000571023 rs762168786 CA346740050 |
245 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002379810 RCV001214344 rs267608041 |
246 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572720148 CA346740062 RCV001026331 |
246 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858308 RCV000563867 CA346740068 rs1297205425 |
246 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000231668 RCV001057806 RCV002378963 RCV001358625 rs267608041 |
247 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000075030 rs587779320 |
247 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572720176 CA346740088 RCV001026412 |
247 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873409 rs1572720192 RCV001026426 |
248 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490856 RCV000507816 RCV003128157 RCV000576398 RCV000462389 rs267608041 |
248 | R>missing | Uterine corpus cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193103 RCV000486750 CA016391 RCV000490932 rs63749980 RCV000524215 RCV002288565 RCV000075032 |
248 | R>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000657423 RCV000129856 rs587781691 RCV001824640 RCV000477160 |
248 | R>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000178052 RCV000226497 rs63749980 RCV000215538 CA016385 |
248 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346740098 rs764870249 RCV000630149 RCV000776946 |
248 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000476123 CA073426 RCV000562563 rs764870249 RCV000587170 RCV001824790 |
248 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000164341 RCV002228583 RCV000469980 CA016402 rs764870249 RCV001775642 |
248 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000552704 CA346740105 rs752135996 RCV000777228 |
249 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000579473 RCV000629839 rs1553412174 |
249 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761137 RCV000410809 RCV000128926 CA016410 rs587781275 RCV000168003 RCV000656890 RCV000202238 |
250 | V>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002230117 rs554884560 CA16611116 |
251 | I>L | Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779321 CA016429 RCV000506023 RCV000803732 RCV001026537 |
251 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000215096 RCV000630227 CA016421 rs554884560 RCV000662409 RCV000220612 |
251 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA016437 RCV000075035 rs267608048 RCV001354709 |
252 | S>* | Variant assessed as Somatic; impact. Endometrial carcinoma Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA073439 rs746623981 RCV000699452 RCV000216205 |
252 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002393295 rs1669252923 RCV001060634 |
253 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759737 RCV001039832 rs876659191 |
254 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578043 RCV000221015 rs876659191 |
254 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001353856 rs267608072 RCV000075036 |
255 | E>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001384106 RCV000490980 rs1114167704 |
255 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026641 rs1572720288 |
255 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558659230 CA346740181 RCV000773781 |
255 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347356 rs1669253855 |
255 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669253958 RCV001179442 RCV001875935 |
255 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217900 rs876661129 CA10577255 RCV000583083 RCV002516194 |
255 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002404725 rs1553412194 RCV000629820 CA346740190 |
256 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218231 CA10578044 rs786202565 |
258 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048139 rs1553412195 |
258 | I>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174609 RCV000584543 rs1553412195 CA346740217 COSM48574 RCV000705703 |
258 | I>T | lung Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001308320 RCV002284369 rs786202565 CA016458 RCV000165428 |
258 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001191235 rs1404814811 |
259 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563018 rs1553412198 CA346740227 |
259 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001876027 CA346740230 RCV002462347 RCV001181474 rs1404814811 |
259 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000772833 rs1558659265 |
260 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661250 RCV001177557 |
261 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577258 rs876661250 RCV000473051 RCV000574186 RCV000220529 |
261 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572720339 RCV001026848 CA346740248 |
261 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798247 RCV001026880 CA346740265 rs1572720347 |
262 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740258 RCV000792457 rs1572720344 |
262 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222570 RCV000484550 CA16617635 RCV001308254 rs1064794127 |
263 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV002558839 RCV001177018 rs1064794127 |
263 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002516207 CA10577259 RCV000217997 rs876661253 |
264 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1333079379 CA346740308 RCV001210223 RCV002418710 |
266 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1301670893 CA346740326 RCV001057533 |
267 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346740324 RCV000572224 rs1301670893 |
267 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000630161 CA346740338 RCV002413796 rs1553412217 |
268 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208808 RCV002418703 rs1553412217 |
268 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617636 RCV000569264 RCV000807648 rs587779322 RCV000482210 |
269 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000568144 RCV002504983 RCV000759873 RCV002267836 rs587779322 RCV000684794 CA016470 |
269 | T>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA346740355 RCV000564981 rs1553412223 |
269 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759874 rs1114167696 RCV000491266 RCV000823394 |
270 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685156 CA46706757 RCV001775952 RCV001027168 rs200898010 |
270 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA346740369 RCV000689397 rs200898010 |
270 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002418875 rs1669257767 RCV001284310 |
270 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213657 rs1669257647 |
270 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016485 rs63750552 RCV000075038 |
272 | E>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002516506 RCV000166702 rs786203409 |
272 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000198936 rs863224631 RCV000774591 CA338298 |
272 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769610487 RCV000689445 RCV000777461 CA346740411 |
273 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000164196 rs769610487 CA016500 RCV001356110 RCV001546884 RCV000206680 |
273 | G>E | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779948 RCV000115443 RCV000212634 RCV000685169 CA016493 |
273 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000582421 rs769610487 RCV000708857 CA073459 RCV000561246 RCV000232347 RCV000986709 |
273 | G>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346740419 RCV000813513 rs1572720447 |
274 | S>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222274 RCV000115444 rs587779949 RCV000554997 CA016514 |
274 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669259746 RCV001227021 |
276 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196039 rs374486449 RCV000411901 RCV000235181 CA016522 RCV000160656 RCV000781597 RCV002484996 |
277 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000221371 CA10578045 rs876659140 |
277 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312678 rs876658406 RCV000219476 CA10578046 |
278 | I>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658406 RCV001061989 |
278 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346740474 RCV001860869 RCV001017557 rs1572720474 |
278 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661292 RCV001037850 |
279 | S>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000684925 CA346740494 rs1558659436 |
279 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708858 rs1558659442 RCV000986710 CA346740498 |
280 | S>G | Lynch syndrome 5 Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524594 RCV001060378 rs1669261078 |
280 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773445382 RCV002448605 RCV000560007 CA346740517 |
281 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16610896 rs773445382 RCV002230413 |
281 | G>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000531362 RCV000579639 rs773445382 CA073491 |
281 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572720532 RCV001860877 CA346740519 RCV001017816 |
282 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188313 RCV001859129 rs1572720532 |
282 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491692 rs1114167708 |
283 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047885 rs1669262436 RCV002445251 |
283 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572720562 RCV000822820 |
284 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574888 rs267608062 RCV002272293 |
284 | D>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412283 RCV000629720 RCV000075039 RCV003162480 |
284 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630150 RCV000771540 CA346740545 rs1553412286 |
284 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059328 RCV002445309 rs1553412286 |
284 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660204 RCV000222905 CA10578047 |
285 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166669 rs876660204 RCV001297862 |
285 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174593 CA016543 rs63750878 RCV000556949 RCV000148648 RCV000212635 VAR_012957 RCV000160657 |
285 | S>I | Hereditary cancer-predisposing syndrome Colorectal cancer Hereditary nonpolyposis colorectal neoplasms CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000441289 RCV002411309 rs1057520605 CA16604278 RCV002521554 |
286 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569321 CA346740573 RCV001226261 rs1057520605 RCV001284312 |
286 | E>K | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1057520605 RCV000807815 CA346740574 |
286 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659930 RCV000217730 CA10578048 |
287 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740589 RCV002549471 rs876660299 RCV001018086 |
287 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578049 RCV000220051 rs876660299 RCV000537380 |
287 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375167 RCV001211873 rs1669263931 |
288 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581246 RCV001762352 CA016568 RCV000160658 rs368318845 RCV001220946 |
289 | G>A | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001358402 RCV000771277 rs368318845 CA073521 |
289 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs267608079 CA016554 RCV000129540 RCV000761154 RCV001798258 RCV000524216 RCV000411287 RCV000235182 RCV000985852 |
289 | G>E | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001191696 rs1669264133 RCV001211347 |
289 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368318845 RCV002376986 CA346740617 RCV000557147 |
289 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA073528 RCV000568053 RCV000985853 RCV001821283 RCV000473462 rs751309721 |
290 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000812334 CA346740628 rs751309721 |
290 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502888 RCV000473969 |
291 | N>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180403 rs876660529 |
291 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375242 rs1669265158 RCV001233333 |
292 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294307 rs587781389 CA016579 RCV000129224 |
292 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000561282 CA346740653 rs587781389 |
292 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000708613 rs1558659626 |
293 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491677 rs1114167748 RCV000695219 RCV001523829 |
293 | P>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346740664 RCV000629745 rs1553412308 |
293 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412308 RCV001320534 |
293 | P>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA073534 RCV000583660 rs756935130 RCV002466543 RCV000806695 |
293 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002376987 CA346740670 rs1482153450 RCV000550227 |
294 | V>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1482153450 RCV002259365 CA346740669 RCV001018376 RCV000703816 |
294 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553412313 CA346740665 RCV000630026 |
294 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373958499 RCV002446923 RCV000486950 RCV000814413 CA16617639 |
295 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000210183 CA016595 RCV000693641 rs267608051 RCV001778764 RCV000166983 |
295 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_043947 RCV000115445 RCV000410872 CA016588 RCV000212636 rs267608051 RCV000075042 RCV000524217 RCV000512927 |
295 | K>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome multiple colorectal adenoma [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA346740673 RCV000580368 rs267608051 |
295 | K>T | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003128161 RCV002370078 RCV000794858 rs1572720704 |
296 | V>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372347 RCV000821839 CA346740681 rs1572720726 |
296 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740686 RCV000629798 RCV002377345 RCV002305519 rs1324211895 |
297 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs146816935 RCV000130865 RCV000551832 CA016604 RCV000075043 RCV000149892 |
298 | R>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs146816935 CA346740688 RCV000568458 RCV001574830 RCV001294425 |
298 | R>G | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
CA016611 RCV000758602 RCV000168235 RCV000165781 RCV000588989 rs765237563 |
298 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000466552 rs1060502941 |
299 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002529344 RCV000603999 RCV002448845 rs1553412326 CA346740692 |
299 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA073549 RCV000527690 rs755878786 RCV000575082 |
299 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs55760494 RCV000166713 CA016620 RCV000800357 |
300 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55760494 RCV002375126 RCV001201716 RCV001201240 CA46706922 |
300 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000199066 RCV000214218 rs55760494 RCV002267932 RCV000586061 CA073560 |
300 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA073553 RCV000465049 RCV002229338 rs779858670 RCV000566281 RCV001798725 RCV000220107 |
300 | R>W | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000825624 RCV000213447 RCV000629753 RCV000202094 rs863225421 |
301 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572720794 CA346740701 RCV001039831 RCV001779102 RCV001018658 |
301 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel rs1553412337 RCV001236401 |
301 | K>N | Hereditary nonpolyposis colorectal neoplasms Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
CA346740702 RCV000801095 rs1572720800 |
301 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690445 rs1558659699 |
302 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346740708 RCV001018720 rs1572720807 |
302 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629734 rs587781510 RCV000218110 RCV001762489 CA10578051 |
302 | R>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000521245 RCV000219538 rs587781510 RCV000845040 CA073568 RCV000195580 |
302 | R>K | Turcot syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000589579 RCV000168210 RCV000129487 RCV000216085 rs587781510 RCV000708859 RCV000662957 CA016638 |
302 | R>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473148 RCV000411044 rs1057517551 RCV000482391 RCV000491372 |
303 | M>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201688 CA016648 RCV000797791 RCV002442640 CA346740716 RCV000164096 |
303 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001585735 RCV001018798 CA46706955 RCV000808066 RCV001779078 rs977576724 |
303 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000799448 RCV000775313 rs1558659703 CA346740714 |
303 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190080 rs977576724 |
303 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000758603 CA346740720 rs1481054050 |
304 | V>A | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1481054050 CA346740722 RCV000795091 |
304 | V>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000574611 CA346740721 rs1481054050 |
304 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000771395 RCV000220303 CA10577267 rs876661207 RCV000663285 RCV000540281 |
304 | V>M | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176217 rs1572720858 |
305 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821117 CA346740725 rs1572720858 |
305 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215484 RCV001216925 CA10578052 rs876659659 |
306 | G>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001045149 rs1669270601 |
307 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708860 rs1553412354 CA346740745 RCV001861934 |
308 | G>A | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412354 CA346740744 RCV002377346 RCV000629935 |
308 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46706999 rs370174372 RCV000700261 RCV001798963 RCV002369920 |
308 | G>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212637 RCV003153368 RCV000656891 RCV001353732 CA016656 RCV000115446 rs544222338 RCV001089225 |
309 | S>C | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000213636 RCV000805723 CA073584 rs544222338 |
309 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001060757 rs876659095 |
309 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659095 CA10578054 RCV000221676 |
309 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562018 CA073578 rs544222338 RCV002526787 |
309 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs777302246 RCV001142204 |
310 | L>R | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610938 RCV003168829 rs1060502900 RCV000466954 |
310 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740754 RCV002376964 rs1323987464 RCV000520147 RCV001066209 |
311 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002515116 RCV000160659 rs730881785 CA016664 RCV001019185 RCV002247556 |
311 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1323987464 RCV000562177 CA346740753 |
311 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045866 rs1669273687 |
312 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669273799 RCV001306421 |
312 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001575329 rs1553412361 RCV000564661 RCV000781595 RCV000630132 |
312 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753618 rs753373644 RCV001019248 CA350342 RCV000206281 RCV001303030 |
313 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740776 rs1553412366 RCV000572646 |
314 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760100983 RCV001361344 CA073598 RCV000576046 RCV000410264 |
314 | S>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000475100 RCV000478810 CA073603 RCV000804626 CA346740781 RCV000659889 RCV002265689 rs150440246 RCV000761132 RCV000219163 |
314 | S>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
CA073607 rs63750491 RCV000586030 RCV000566795 RCV000696871 |
315 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750491 RCV001223820 CA46707062 COSM13383 |
315 | S>F | urinary_tract Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054837 CA346740783 RCV001019361 COSM1408291 rs1167164970 |
315 | S>P | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000630127 rs562487553 CA073615 RCV000562657 |
316 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001205485 CA346740815 rs1114167758 RCV000491999 |
317 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572720985 RCV001019445 CA346740832 |
317 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854763 rs876661282 CA10577261 RCV000220301 |
317 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740848 RCV000491698 rs1114167763 RCV001387270 |
318 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566632 CA346740840 rs1114167763 RCV001858374 |
318 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167763 CA346740845 RCV000816961 |
318 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220509 rs188252826 RCV000168389 CA016673 RCV000656996 |
319 | T>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754879198 RCV001039367 |
320 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019523 rs779022657 CA346740894 |
320 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA073651 rs779022657 RCV000792707 RCV000561568 |
320 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001337476 CA10582042 rs754879198 RCV000227978 RCV002378964 |
320 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212137 rs1472853525 RCV002375168 RCV001800969 |
321 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813616 CA346740916 rs1253844411 RCV001019590 |
322 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001019586 CA346740914 rs772126419 |
322 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346740919 rs1253844411 COSM3407878 RCV000773124 RCV000810970 |
322 | A>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA073667 RCV000579969 RCV000466844 rs777890307 |
323 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860952 RCV001019618 rs777890307 CA346740929 |
323 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346740931 rs777890307 RCV000821409 RCV000562475 |
323 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10578055 rs876658610 RCV000663012 RCV000216324 RCV000229706 RCV000483787 RCV001328357 |
324 | K>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001180553 CA346740936 RCV000529561 rs1413266657 |
324 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558659961 RCV000758604 CA346740950 RCV001301123 |
324 | K>R | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546692 CA346740973 rs1553412397 RCV002384034 |
325 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346740972 RCV001037488 rs1553412397 RCV002466602 RCV001019694 |
325 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323000 rs1669278862 |
325 | Q>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779323 RCV001019736 VAR_067295 CA016705 |
326 | A>V | Hereditary cancer-predisposing syndrome LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000160712 RCV000499861 RCV000818095 rs730881814 CA016717 RCV000214500 |
327 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs369568820 RCV001349917 |
327 | T>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629838 rs730881814 RCV002385975 CA346741012 |
327 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003150013 RCV003137692 RCV000479969 rs369568820 CA016745 RCV000204780 RCV000164123 |
327 | T>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1572721137 CA346741038 RCV001019792 RCV001860958 |
328 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502879 RCV001180967 RCV001876011 |
328 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016753 RCV000679242 RCV000630133 rs138143769 RCV000130197 |
328 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060502879 CA16610903 RCV002230102 |
328 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669280227 RCV001191780 |
329 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558946 RCV002384035 rs1553412409 |
330 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000233544 rs786202848 CA016771 RCV000165878 RCV001382641 |
330 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346741097 rs786202848 RCV001019868 RCV000689196 |
330 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA073692 RCV000566160 RCV001055886 rs770408023 |
330 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669281225 RCV001327050 |
331 | S>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000292993 CA10615752 rs886056143 RCV002480193 RCV000524218 RCV001189629 RCV002509369 |
333 | T>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587781983 CA016780 RCV000986711 RCV000708861 RCV000212639 RCV000130382 RCV000475028 |
333 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002230120 CA16610874 rs587781983 |
333 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060502932 RCV002230123 RCV000522846 |
334 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003169638 rs1669283147 RCV001342498 |
334 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346741180 RCV001218598 rs1558660066 RCV001009659 |
334 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572721235 RCV001016965 RCV000817665 CA346741233 |
336 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130615 RCV001356288 rs587782102 RCV001219936 CA007788 |
336 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001178071 rs1669284787 |
337 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056691 rs1669284367 RCV002436624 |
337 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309496 rs1572721244 RCV002322216 |
337 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016992 rs1572721244 CA346741255 |
337 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572721251 RCV001016987 |
338 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063240 CA346741265 rs1114167804 RCV000491015 |
338 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346741296 RCV000629681 RCV002334051 rs587780669 |
339 | A>D | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA007797 RCV000122950 RCV000490975 rs587780669 |
339 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA067026 RCV000540175 rs772760681 |
339 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000555059 RCV001009702 CA346741306 rs587780669 |
339 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656892 RCV000986712 RCV000524096 RCV000160713 RCV000074626 CA007807 RCV000212640 rs61753793 |
340 | F>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346741339 rs1558660119 RCV000758605 |
341 | S>A | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766202031 RCV000568421 CA067038 RCV002528146 |
341 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766202031 CA346741344 RCV001036159 RCV000985820 |
341 | S>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753617680 RCV000708716 RCV000685389 CA346741360 RCV001284011 |
342 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753617680 RCV000481708 RCV000697119 RCV000564150 CA067043 |
342 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000212641 rs548898238 RCV000115366 CA007823 RCV000469621 |
343 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000160660 RCV001053061 CA007816 rs548898238 RCV000774593 |
343 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1572721313 CA346741372 RCV002386410 RCV000798245 |
343 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001354541 CA346741390 rs730881815 RCV001865721 RCV000570360 |
344 | Q>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA007839 RCV000465512 RCV001179479 rs730881815 RCV000160714 |
344 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804241 rs1572721339 CA346741408 |
344 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223357 RCV000630097 CA067060 RCV000798414 CA346741429 rs765166082 |
345 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000774594 RCV001371787 rs864622377 RCV000203945 CA348227 |
345 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs567785169 RCV001357378 RCV000479642 RCV000459417 CA16610875 RCV000562409 |
346 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000524097 CA007847 RCV000454816 RCV000229553 RCV000662908 rs567785169 RCV000167468 RCV000657019 |
346 | S>F | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001058009 rs1669287149 |
346 | S>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000826200 RCV001550329 RCV000629779 rs1553412441 |
347 | E>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055202 RCV002393274 rs1669287624 |
347 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705715 CA067068 RCV000580344 rs758432113 |
348 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs863224473 RCV000196898 RCV002399745 CA336780 RCV001781579 |
349 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346741496 RCV000800340 rs863224473 RCV000580956 |
349 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001367385 rs876659112 RCV000584580 CA346741507 |
349 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000523088 rs869312797 RCV000220598 CA357784 RCV000210099 RCV000524098 |
349 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782331 CA346741523 RCV000582437 RCV001059190 |
350 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001211394 rs1425548621 RCV000825371 CA346741513 |
350 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000168415 CA007866 RCV001086248 RCV000212642 rs587782331 RCV000131253 |
350 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000571463 RCV000690130 rs28903083 CA346741549 |
351 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002402607 RCV001207873 rs1669288901 |
351 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115367 CA007886 RCV002399480 rs587779911 RCV001366403 |
351 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001082336 RCV000160662 RCV000780471 CA007915 RCV000708862 RCV000656893 RCV000986713 RCV001762353 rs730881787 |
352 | V>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881787 RCV001039509 |
352 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165096 rs786202336 |
353 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1465861885 RCV001039055 |
353 | S>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478386 RCV000217160 rs876658728 |
354 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773083 rs1558660310 CA346741608 |
354 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212644 RCV000160663 CA007928 RCV001798553 rs730881788 RCV000198861 RCV002271427 RCV000662570 |
354 | G>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000813079 rs1572721518 CA346741629 |
355 | G>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542905 rs587778531 CA346741623 |
355 | G>R | Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000130273 RCV000588001 RCV001762264 RCV001083152 rs587778531 RCV000121578 RCV000515340 CA007937 RCV000409146 RCV001356010 |
355 | G>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000584481 CA067098 rs776170146 |
356 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001249976 rs776170146 RCV001229180 |
356 | G>D | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485837 RCV000582356 CA067106 rs771529531 RCV000629703 |
357 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002469207 rs760311819 CA067120 RCV001229506 RCV000566365 |
358 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA067116 RCV000579494 rs772747395 RCV001853881 |
358 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001030490 RCV002416313 rs772747395 |
358 | D>N | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346741720 rs1553412468 RCV000536206 RCV001009853 |
359 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346741749 RCV000587843 rs1278591662 RCV003159992 RCV000795120 |
359 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000629709 CA067126 RCV000563224 rs145994565 RCV000479215 RCV001704606 |
360 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs267608060 RCV000556830 RCV000564946 CA007955 |
360 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343335 rs267608060 RCV002419011 |
360 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346741759 RCV000551098 rs145994565 |
360 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000230863 RCV000589862 rs587782651 RCV001420719 RCV000132064 RCV000758606 CA007972 |
361 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA007978 RCV000074629 RCV000409637 RCV000567227 COSM190062 RCV000701439 rs63750440 RCV000487116 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [NCI-TCGA, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs63750440 RCV001017224 CA346741798 |
361 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000074630 rs267608056 |
362 | P>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346741821 RCV000773691 rs759359754 RCV001856064 |
362 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764965018 RCV002429894 CA067143 RCV001211002 |
363 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1243909922 CA346741845 RCV001214611 |
363 | T>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001179755 rs764965018 |
363 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062390 RCV003160505 rs1243909922 |
363 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502874 RCV000477496 RCV003168827 |
363 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1437629945 CA346741851 RCV000700257 RCV000562080 |
364 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs752628520 RCV001037882 RCV002445218 |
365 | W>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001526921 RCV000758607 RCV001855908 CA067147 rs752628520 |
365 | W>R | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780558 CA008009 RCV000164286 RCV000119239 |
365 | W>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175269 RCV000773039 CA346741890 rs1482767334 RCV001065372 |
366 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779203 RCV000074632 |
367 | H>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017257 rs1572721655 |
367 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002444459 CA008020 RCV000034488 rs201193496 |
367 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412495 CA346741909 RCV001017303 |
367 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412495 RCV000622394 CA346741910 |
367 | H>R | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002290453 RCV000807646 rs1572721697 CA346741925 |
368 | E>G | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049485 CA346741920 rs1572721686 RCV001017315 |
368 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212645 RCV000528613 rs375974046 RCV001193101 RCV000415687 RCV000115368 RCV000210148 CA008045 RCV000662663 |
369 | T>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV000550186 rs375974046 CA346741943 RCV000582598 |
369 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV000491275 rs786204252 RCV001255565 RCV000168455 |
370 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779204 RCV001201190 RCV003162468 RCV000202023 RCV000074633 CA008059 RCV000162441 RCV000518839 RCV000524101 |
370 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346741970 RCV000630208 RCV002438643 rs1336187952 |
371 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346741989 RCV001782978 RCV001851339 RCV000491992 TCGA novel rs1114167731 |
372 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs1114167731 CA346741990 RCV000527747 |
372 | W>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003223642 RCV000457279 rs1060502915 CA16610943 RCV000567073 |
373 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327163 rs1060502915 |
373 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781582 RCV001257481 RCV000679213 RCV000233727 rs587781660 RCV000129805 |
374 | K>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440455 RCV000692120 rs1558660575 CA346742017 RCV000708863 |
374 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056303 rs764150912 RCV002256671 CA067170 |
376 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000560941 RCV002527990 CA346742068 rs1553412518 |
376 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213418 CA067175 RCV001559019 RCV001762480 rs764150912 RCV000791357 RCV000466266 |
376 | E>G | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000777531 rs1558660612 |
377 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582043 RCV000227569 RCV000568905 rs878853699 |
377 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001373600 CA008090 RCV000165503 rs786202609 |
377 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578059 RCV000218182 rs550221570 |
377 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000629781 RCV002325197 RCV002510939 CA067191 rs550221570 |
377 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000504011 rs267608077 RCV000129834 RCV000202120 RCV000629947 RCV002463634 RCV000074635 |
378 | R>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490870 RCV001851343 rs1114167801 RCV000586921 |
378 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629837 RCV000569385 RCV001358106 RCV000479933 RCV001290538 CA008097 rs587779205 |
378 | R>K | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001366876 CA10582044 rs878853700 RCV000230689 |
378 | R>S | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1432436629 RCV000583626 RCV001867896 RCV002325116 CA346742114 |
379 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669298589 RCV001227267 |
379 | R>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009948 RCV001058078 rs1572721819 CA346742126 |
379 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009985 rs587779206 RCV001356254 RCV000704633 RCV000074636 |
380 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217456 rs876660549 RCV001070153 |
380 | D>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1553412534 RCV000579782 CA346742142 |
380 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482226 rs1064793521 RCV000566437 CA16617642 |
380 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001030491 RCV001862436 rs1064793521 |
380 | D>N | Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695797 rs1114167779 RCV000491873 CA346742139 |
380 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412538 RCV001177440 |
381 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142111387 CA067195 RCV000206259 RCV002460058 |
381 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1669300332 RCV001226615 |
382 | H>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346742169 RCV000697706 rs1558660701 |
382 | H>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192455 rs1572721856 RCV000811454 CA346742177 RCV001017459 |
382 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067471 RCV001017453 CA346742171 rs1558660701 |
382 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411429 RCV000162700 RCV000213163 RCV000627690 RCV001255541 rs587779207 CA008133 |
382 | H>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16610954 rs749800983 RCV000475615 |
383 | R>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000817837 rs730881789 RCV000215370 CA10578061 |
384 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA008156 RCV000824400 rs730881789 RCV000160664 RCV000569549 |
384 | R>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000774801 rs730881789 CA346742207 |
384 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000806731 rs781652274 CA46707495 |
385 | R>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491395 rs267608043 RCV001854274 |
385 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249977 rs1669301838 |
387 | D>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001571582 RCV000566933 RCV003114685 CA067216 RCV001358122 rs746532720 |
387 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000465341 CA16611118 RCV000561299 rs746532720 |
387 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000204403 RCV000519465 RCV002243887 RCV000574858 CA067228 rs770386388 |
388 | H>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002228557 CA008186 RCV000163036 rs786201185 |
388 | H>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658795737 RCV000630176 rs1553412502 |
388 | H>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770386388 RCV001211839 |
388 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549454 CA346742291 RCV001017496 rs1572721950 |
389 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327338 RCV001063047 rs1572721950 |
389 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001804174 RCV000202004 RCV000491518 rs863225398 |
390 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491747 RCV002248719 RCV001805110 rs753796271 |
390 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491971 rs55882234 CA067253 RCV002523981 RCV001805109 |
390 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA008202 RCV000552028 RCV000570684 RCV002267855 rs147737737 COSM13398 RCV000758608 RCV000985821 |
390 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome endometrium Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA346742303 rs147737737 RCV000530454 RCV001185230 |
390 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs876659096 CA10578062 RCV000221318 |
391 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167718 RCV000490855 |
392 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115370 RCV000212647 rs587779912 CA008231 |
392 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000629909 rs1064794625 CA16617643 RCV001010135 RCV000480651 |
392 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010152 CA067262 RCV000529516 rs764110569 |
393 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669304152 RCV001237996 |
393 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780490 rs764110569 RCV002332569 CA346742361 |
393 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553412587 RCV002341183 RCV000501660 RCV001321131 CA346742373 |
394 | S>A | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001819721 RCV001296294 RCV001010181 rs1410933611 CA346742378 |
394 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553412587 RCV002329259 CA346742370 RCV000544412 |
394 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1410933611 RCV000691691 CA346742376 |
394 | S>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579921 RCV000629996 CA346742386 rs1553412594 |
395 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491003 RCV000210204 CA067284 rs767658494 RCV000559226 RCV000481629 |
395 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000213240 rs767658494 CA10578063 |
395 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000625241 CA008249 RCV000121576 VAR_012958 RCV000144628 RCV001083342 rs2020908 RCV000034490 RCV000157762 RCV000030259 RCV001353801 RCV001798021 |
396 | L>V | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001010222 rs1572722080 |
397 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205983 rs1669305969 |
397 | Y>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074640 rs63750439 RCV001535637 RCV003162469 RCV001045033 RCV000497288 RCV000160740 RCV002265594 |
397 | Y>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412609 RCV002341130 RCV001388502 RCV000480464 |
397 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572722039 RCV001010208 RCV002249630 |
397 | Y>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708864 RCV000656894 rs63750065 RCV000206352 COSM13385 RCV000662428 RCV001030492 RCV002484997 RCV000160665 CA008291 RCV000565934 |
397 | Y>C | Hereditary cancer-predisposing syndrome urinary_tract Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Hereditary breast ovarian cancer syndrome Lynch syndrome [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000771536 CA346743349 RCV001203377 rs63750065 |
397 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587779913 RCV000115371 CA008268 RCV000457819 RCV000212648 |
397 | Y>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs63750065 RCV000568320 CA346743347 RCV000629931 |
397 | Y>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1572722017 RCV001010085 |
398 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491142 rs63750439 |
398 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779208 CA008305 RCV000074641 |
398 | V>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780350978 RCV000706608 CA346743374 CA067302 |
398 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780350978 RCV000216691 RCV001853549 CA10578064 |
398 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001364902 rs878853701 RCV001358599 CA10582045 RCV000233968 |
399 | P>L | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs932458640 CA346743406 RCV001010252 |
400 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs932458640 RCV000581121 CA46707672 RCV001296042 |
400 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346743424 rs1553412623 RCV000579963 |
401 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669308138 RCV001214174 |
401 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348708 rs1669308138 RCV001214443 |
401 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578065 rs876659223 RCV000630234 RCV000213137 |
403 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002343610 RCV000758609 CA346743464 rs876659223 |
403 | L>I | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA067350 rs768740986 RCV000520334 RCV000460255 RCV000567415 |
404 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491592 rs1114167691 |
405 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA008320 RCV000780479 RCV000160666 RCV000195871 rs730881790 RCV000563544 |
405 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001010326 rs730881790 CA346743524 |
405 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491552 RCV000481662 rs1064794198 CA16617646 RCV000796619 |
406 | C>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346743529 RCV000630135 RCV000563618 rs1064794198 |
406 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346743538 rs1114167789 RCV001058574 RCV000490903 |
406 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002365833 RCV001174914 RCV001776124 RCV002558779 rs1114167754 |
407 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167754 RCV001068967 |
407 | T>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002523980 RCV000490873 rs1114167754 CA346743566 |
407 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412649 RCV000535877 |
408 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669309735 RCV001208231 |
408 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491143 rs767404845 RCV000629782 RCV000178053 CA008328 |
408 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010395 RCV000525586 CA346743582 rs1553412644 |
408 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001341996 rs1669310132 |
409 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs554843104 RCV000688850 CA346743667 |
411 | R>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000563473 rs202219685 RCV000485452 RCV000629980 CA16617647 |
411 | R>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1669310607 RCV001058336 |
412 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772108 CA346743699 rs1553412665 |
412 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129485 rs587781508 CA008341 |
412 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001357169 RCV001044962 rs786201049 CA008349 RCV000162446 |
413 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167736 RCV000491524 CA346743733 CA346743737 RCV001010501 RCV000630168 |
413 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002372249 RCV001340699 rs786201049 RCV000228932 CA10582046 |
413 | W>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV001071137 RCV002379631 rs1007311950 |
414 | W>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs587779914 RCV000115372 RCV000524659 RCV000491836 RCV000506619 CA008355 |
414 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002381769 CA346743751 rs587779914 RCV000805386 |
414 | W>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167756 CA346743776 RCV000657749 RCV000812630 RCV000490843 |
415 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799483 CA346743816 RCV002397602 rs1572722305 |
416 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669311750 RCV002298888 RCV001184894 |
416 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388504 RCV000804092 rs778555956 |
417 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669312251 RCV002409364 RCV001036155 |
417 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575508 CA346743829 rs1553412687 |
417 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346743849 rs1251033858 RCV000781998 |
418 | S>P | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876661251 RCV000586672 RCV002417978 RCV000217315 |
419 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420279 rs1553412696 RCV000507244 |
419 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002422646 rs762814792 RCV000759842 CA346743880 |
419 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000582392 CA008379 rs762814792 RCV001342763 RCV000168366 |
419 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002530352 rs1114167752 CA346743930 RCV000574258 |
420 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346743954 rs1423874192 RCV002445217 RCV001037849 |
422 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346743948 RCV001236507 rs1423874192 RCV001010627 |
422 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1423874192 RCV000813727 CA346743951 |
422 | D>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM477462 rs587781657 RCV001571224 RCV000300787 CA10615505 RCV000564277 RCV000688085 |
423 | L>I | kidney Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000588684 RCV000129796 rs587781657 CA008397 RCV000466742 |
423 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001055600 rs1669314089 RCV002374928 |
424 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768299607 RCV002374795 RCV000765682 CA16610880 RCV002230411 |
424 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768299607 RCV000583401 RCV001821703 CA067430 RCV001235830 |
424 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1114167774 RCV000491213 |
425 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63749971 RCV000570856 RCV001063935 CA008413 |
425 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779209 RCV000074646 |
426 | C>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379819 RCV000815858 rs1553412720 RCV001217699 CA346744122 |
427 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001185689 rs1669315029 |
427 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA067440 rs761822293 RCV000538584 RCV000567668 |
428 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346744125 RCV000773707 rs761822293 |
428 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669315670 RCV001760133 RCV001181164 |
429 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001851340 RCV000491842 rs1114167737 CA346744168 |
430 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115373 RCV000218965 rs587779915 CA008438 |
430 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492000 rs1114167737 CA346744179 |
430 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132371 rs587782809 |
431 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502946 RCV002230422 |
432 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412735 RCV000531933 RCV002384033 |
432 | F>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804625 rs750528093 RCV002381764 CA067459 |
432 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs863224614 RCV002381687 CA337394 RCV001312494 RCV000197729 RCV000485339 |
432 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000582500 rs750528093 CA008453 RCV000553513 RCV000479506 RCV000162486 RCV000500646 |
432 | F>S | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750528093 RCV001214936 |
432 | F>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608055 CA008461 RCV001786392 RCV000491745 RCV000074647 CA346744258 RCV001223369 RCV000502404 |
433 | Y>* | Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058107 rs1669317232 |
433 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791437 CA008468 RCV000214282 RCV000128873 rs63751405 VAR_068710 RCV002288560 |
435 | L>P | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002379816 rs876660441 RCV001215313 |
435 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761037236 RCV000546807 CA346744333 CA346744337 RCV000573915 |
436 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1558661296 RCV000773794 CA346744328 |
436 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558661308 RCV000759844 RCV002386323 |
437 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669318528 RCV001210483 |
437 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239982 rs1558661333 RCV002379915 |
438 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412742 RCV000530989 RCV001524417 CA346744372 |
438 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465468 CA008484 RCV000165132 rs786202363 |
439 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579401 rs1553412749 CA346744442 RCV000794793 |
441 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804192 rs1553412749 RCV000708865 CA346744439 |
441 | L>V | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690979 rs1558661368 |
442 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558661380 RCV000701004 |
442 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350304 rs1669320105 |
442 | I>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011016 rs1572722552 |
442 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011039 RCV001313959 CA346744472 rs587779210 |
442 | I>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000568557 RCV000213558 rs587779210 CA008493 COSM3728169 RCV000627712 |
442 | I>T | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553412757 CA346744500 RCV000580204 |
443 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562012 rs1553412757 CA346744502 |
443 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412755 RCV000545887 |
444 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230420 rs1060502940 RCV002379470 |
444 | V>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572722604 CA346744555 RCV002386433 RCV000802856 |
445 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779211 CA008501 RCV000074650 |
446 | E>D | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379769 rs1669321230 RCV001203684 |
446 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346744584 RCV000567549 rs1553412768 |
447 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222598 rs369709529 |
447 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002257868 rs1553412772 CA346744606 RCV000630106 |
448 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779123278 CA067502 RCV000571507 |
448 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA008516 RCV003137604 RCV000627730 RCV000491070 VAR_043949 RCV000074651 rs63750741 RCV000576688 RCV001804803 |
449 | L>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome CRC and ENDMC; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000484895 RCV000559790 CA16617648 rs1064794705 |
450 | V>A | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000630053 CA346744637 rs878993430 |
450 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000210100 RCV000490853 RCV000684808 rs869312769 RCV000480743 |
451 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002503888 RCV000491947 RCV000576736 rs878853702 RCV000228751 |
451 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346744665 RCV001187695 RCV000693125 rs1558661442 |
451 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346744681 rs1572722687 RCV001011091 |
451 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219359 RCV001349955 rs780734507 RCV001213820 CA10578067 |
452 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV002383908 CA16617649 rs1064793364 RCV002295298 RCV000483127 |
452 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192422 rs1669323917 |
453 | K>* | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384464 rs1669323917 RCV001342402 |
453 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011179 CA346744754 rs1572722703 |
454 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346744815 RCV001045407 RCV003156289 rs200938360 RCV000776813 |
455 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000196009 RCV000590712 RCV000524107 RCV000131161 CA008530 RCV002281960 rs200938360 RCV000409980 RCV001355650 |
455 | N>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047126 RCV001011198 rs1572722737 CA346744881 |
456 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA008538 RCV000491356 RCV000119152 rs587780538 RCV002514591 RCV000519222 |
456 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011200 rs1572722732 |
457 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608052 RCV001956578 CA008546 |
457 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346744900 RCV000572249 rs267608052 |
457 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669325562 RCV001249968 |
458 | H>N | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000479474 RCV002509239 RCV000548616 rs587782346 CA008555 RCV000131285 |
459 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000792081 CA346744976 RCV002386376 rs1572722767 |
460 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748847338 RCV001011252 CA346744965 |
460 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16617651 RCV000477991 RCV000564326 rs1064793187 RCV000815191 |
461 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412804 RCV000568312 |
462 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658726 RCV000777082 CA346745020 |
462 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003165866 rs1558661506 RCV000700974 CA346745042 |
462 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658726 CA10578068 RCV000216959 RCV000800743 |
462 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs864622435 RCV000491980 COSM3839609 RCV000206852 CA350847 |
463 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000217580 rs201892477 RCV000034491 CA008568 RCV000231596 |
464 | I>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001180968 rs1572722813 CA346745110 RCV001224992 RCV000985823 |
464 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312842 CA346745126 rs1553412810 RCV000777560 |
465 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412810 RCV000571976 CA346745123 |
465 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572517 CA346745135 RCV000537341 rs1553412811 |
465 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388378 rs1558661547 RCV000758610 CA346745165 |
467 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524109 rs369456858 RCV000074653 RCV000166488 RCV000587141 RCV000222213 CA008576 RCV001535649 |
468 | R>C | Turcot syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369456858 RCV001186563 |
468 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524110 RCV001582559 rs41295268 RCV000074654 RCV000564062 RCV000986714 VAR_038035 RCV000148649 RCV000588584 CA008584 |
468 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA10578069 RCV000223504 rs41295268 RCV000456959 RCV000486815 |
468 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587781408 RCV000129263 CA008590 RCV000503536 |
469 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000708866 rs748165218 RCV000226561 RCV000213108 RCV000485048 CA067588 |
469 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748165218 CA346745231 RCV000694310 |
469 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205341 RCV001753624 RCV000223414 CA349504 rs864622741 |
472 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000582014 RCV002529253 rs1553412824 |
473 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346745351 rs1553412831 RCV001052533 RCV000580102 |
473 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230118 rs1060502924 RCV001011467 CA16610958 |
473 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038029 rs1669329899 RCV001249974 |
474 | V>A | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773765 CA346745384 RCV001373902 rs1558661621 |
474 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750854 RCV001253395 RCV000074655 RCV000759125 RCV000540977 RCV000222326 |
475 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346745416 RCV000551310 RCV001189638 rs1553412835 |
475 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629940 rs1229494027 RCV000569828 CA346745438 |
476 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1229494027 RCV001313384 |
476 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298682 CA346745443 rs1553412841 RCV000575116 |
476 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347034 rs1669330815 |
477 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528410 rs1251859821 CA346745456 |
477 | G>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001049077 RCV002393242 rs1669330815 |
477 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001383735 RCV000657248 RCV000491241 rs1114167746 |
478 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583949 RCV000540859 rs1343978618 CA346745524 |
478 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1558661654 RCV002279527 RCV000777083 CA346745508 |
478 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1201556163 CA346745564 RCV000773625 |
479 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000575049 rs1553412851 |
480 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669331455 RCV001307409 |
480 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293975 rs1669331597 |
480 | V>missing | Turcot syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781993 CA346745598 rs1244531716 |
480 | V>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA008614 rs63750909 RCV000215386 RCV003128135 RCV001355905 RCV000410127 RCV000524108 RCV000491001 RCV000074656 |
482 | R>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs63750909 RCV001851230 CA16617652 RCV000480474 RCV001267895 |
482 | R>G | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346745661 RCV000680206 rs773226008 |
482 | R>P | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001576886 CA067642 COSM1021268 RCV000566466 RCV000822185 rs773226008 |
482 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000167980 rs786204084 RCV001317757 RCV000579821 CA008628 |
483 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208949 rs786204084 |
483 | V>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000529324 RCV000491704 rs1114167715 |
484 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782706 RCV000491319 CA346745692 RCV001865528 |
484 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782706 RCV001340457 RCV000199811 RCV001011654 CA338881 COSM35715 |
484 | E>K | Hereditary cancer-predisposing syndrome central_nervous_system Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000203804 CA008646 rs587782706 RCV000132161 RCV000480825 |
484 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167803 CA346745723 RCV000491767 RCV001060245 |
485 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230229 rs1669333625 |
485 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346745731 RCV000554233 rs1553412866 |
485 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs577713548 RCV002388470 RCV000799965 CA067675 |
486 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV003151748 RCV000819294 CA008660 rs577713548 RCV000131940 |
486 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs1114167750 RCV001856942 RCV000490994 |
487 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346745761 RCV002395758 RCV001345773 rs1469561474 |
487 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA346745762 rs1469561474 RCV000567671 |
487 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002388291 RCV000698923 CA346745787 rs1558661766 |
487 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818492 CA346745810 RCV000568919 rs1453645523 |
488 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000530253 rs1453645523 CA346745820 RCV000565828 |
488 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346745829 RCV000547273 rs1553412879 |
489 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669334912 RCV001212935 RCV003163619 |
489 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773685 rs1558661782 CA346745855 |
490 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011735 rs1572723119 CA346745946 RCV001862780 |
491 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669335240 RCV002391115 RCV001039903 |
491 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001355839 RCV000225825 rs587782576 RCV000417386 RCV000131804 |
492 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346745978 RCV000822402 rs1572723130 |
492 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61754783 RCV001327432 |
492 | M>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777524 rs1558661808 CA346745951 |
492 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001762171 RCV000115374 rs61754783 RCV000524111 RCV000212649 RCV000587662 RCV001353728 VAR_042275 CA008673 |
492 | M>V | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs267608046 CA008679 RCV000074658 |
493 | E>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669336176 RCV001349078 |
493 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758699749 RCV002508935 CA067740 RCV000776440 RCV002230121 |
494 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1264762735 RCV000816280 RCV000570527 CA346746046 |
494 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000074659 CA008701 RCV000131420 RCV001353858 COSM29732 RCV001249984 RCV000202276 RCV000524112 rs587779212 |
495 | R>* | Carcinoma of colon Variant assessed as Somatic; 0.0 impact. Lynch-like syndrome Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
COSM1408295 RCV001766602 CA346746059 RCV000772563 rs1358771617 RCV001856021 |
495 | R>Q | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000687058 CA346746069 rs1558661860 |
496 | C>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011829 rs764593111 CA346746071 |
496 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000680207 RCV000560586 RCV000567174 CA067747 rs764593111 |
496 | C>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000202087 rs863225400 RCV001214338 |
497 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558661873 RCV000785395 |
498 | K>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859114 rs1669338018 RCV001185863 |
498 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346746138 rs1572723194 RCV001011860 RCV000805720 |
498 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147136417 RCV001011856 RCV001215217 CA067760 RCV001354837 RCV002279707 |
498 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346746146 RCV001011779 rs1114167745 RCV001862781 |
499 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572723206 CA346746160 RCV000821420 |
499 | M>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536646 CA346746150 RCV000491724 rs1114167745 |
499 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480232 CA16617653 RCV002395151 rs786204127 |
500 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786204127 RCV000657123 RCV000578381 RCV001011904 CA008716 RCV000168089 |
500 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000492012 RCV000549117 CA346746206 rs1114167795 |
500 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001093654 rs1572723237 |
501 | H>Q | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572723229 RCV001011921 CA346746216 RCV002549352 |
501 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001093674 RCV000223633 rs779411998 RCV001354875 RCV000467079 CA067771 |
501 | H>Y | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669339495 RCV001207140 |
502 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792665 CA067775 rs749012012 RCV000491991 RCV000523733 |
502 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750897 RCV001353430 RCV000074660 CA008727 RCV000115375 RCV002498355 RCV001079925 RCV001762172 VAR_038036 RCV000078309 RCV000589037 RCV000172818 RCV001798251 RCV000607345 |
503 | S>C | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986715 rs63750897 CA346746266 RCV000773432 |
503 | S>F | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1669339708 RCV001217088 |
503 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808596 rs1572723270 |
504 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346746280 rs1553412902 RCV000556964 |
504 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553412912 RCV001800844 RCV000664274 |
505 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853704 RCV000706233 CA346746328 CA346746323 RCV000698797 |
505 | Y>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001058778 rs1669340655 |
505 | Y>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002307598 CA346746307 RCV000697076 rs1558661932 RCV002388276 |
505 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041029 rs876658881 RCV000985824 RCV000223287 |
507 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346746363 rs1553412915 RCV000537542 RCV000574659 |
507 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669341326 RCV001221015 RCV002393532 |
507 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393226 rs747971039 CA067797 RCV001045971 |
508 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001079926 RCV000659890 RCV000178051 RCV001354372 COSM13386 RCV000074661 RCV003149603 RCV002477055 VAR_043950 rs63751005 RCV000115376 CA008742 RCV000034492 RCV000172817 |
509 | V>A | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome urinary_tract Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000466630 CA10578073 RCV000481397 rs876660317 RCV000218406 |
509 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA008756 rs786203486 RCV000166808 RCV001062575 |
510 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204800 RCV000584293 rs864622572 CA348991 |
510 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001853923 rs864622572 CA346746475 RCV000582166 |
510 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000662384 rs993163672 RCV000823103 |
511 | R>missing | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230418 CA16610960 rs1060502930 |
512 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572723342 CA346746526 RCV000809539 |
512 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002480420 CA16610891 RCV000484466 rs1060502908 RCV000456298 RCV000567923 |
513 | I>T | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000221108 RCV000550953 CA067819 rs746897461 |
513 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001875844 rs1669343421 RCV001177357 |
515 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059294 RCV002402426 rs1669343512 |
516 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184098 RCV001284174 rs1669343851 RCV001236082 |
517 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553412945 RCV000502031 CA346746671 |
518 | T>N | Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223337 rs876660445 CA10578075 RCV001349673 |
519 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346746694 RCV000523872 rs1285168531 RCV000630107 RCV000777179 |
519 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669344619 RCV001223696 RCV002402694 |
520 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346746704 RCV002397388 rs1558662076 RCV000689921 |
520 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779916 RCV000694221 RCV000780489 RCV002397411 CA346746725 |
521 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115377 RCV000216113 rs587779916 CA008790 RCV000473285 |
521 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853708 CA346746742 RCV000773542 |
522 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853708 RCV000227184 RCV001341319 CA10582053 |
522 | Q>K | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214996 RCV001194395 rs63751009 RCV000556355 CA008795 RCV000662803 VAR_043951 RCV000219119 |
522 | Q>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA346746769 RCV000561161 RCV001859988 rs1553412959 |
523 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002397469 rs759857124 RCV000703822 CA067840 |
523 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000629713 rs1553412960 |
524 | Y>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853709 RCV001388386 RCV000231145 |
524 | Y>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000523866 RCV002266921 RCV002469003 RCV000457937 CA008805 RCV000791425 RCV000074665 rs587779215 CA16610964 RCV000491224 RCV000491949 RCV000798747 |
524 | Y>* | Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001012235 RCV000657809 RCV001797740 RCV000504411 CA645372551 rs1553412966 RCV000538459 |
524 | Y>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA645369250 RCV000540287 RCV001580145 RCV003144288 RCV000491097 rs1114167702 |
524 | Y>* | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063246 rs1669346323 RCV002402445 |
524 | Y>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003141931 CA346746806 RCV001012212 rs1572723488 RCV001247613 |
525 | S>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346746817 RCV001189349 rs765387680 |
525 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502899 RCV001012242 CA346746823 |
526 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230107 CA16611129 rs1060502899 RCV000479889 |
526 | V>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751090 RCV000074666 |
527 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210836 RCV003163602 rs1669347620 |
527 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201964 CA346746884 RCV000700927 |
529 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA008819 RCV000166771 rs786201964 RCV001308501 |
529 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002400281 RCV001049902 RCV001819766 CA346746877 rs1457286684 |
529 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA008825 RCV000164520 rs786201964 RCV000204361 |
529 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201721694 RCV001237777 RCV002402745 |
531 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204015 rs201721694 CA348292 |
531 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001070809 RCV000491242 RCV001811350 RCV000074667 rs587779216 |
532 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012320 rs1572723570 RCV001046231 CA346746931 |
532 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694387 CA346746919 rs1558662224 |
532 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779217 RCV000074668 RCV000009498 |
533 | E>* | Turcot syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373726731 CA008846 RCV000218729 RCV000411179 RCV000780476 RCV000122952 RCV000219239 RCV000524115 |
533 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553412981 RCV001178243 |
533 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402580 rs1553412979 RCV001203600 |
533 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346746938 rs1553412979 RCV000580151 |
533 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346746943 RCV002528145 RCV000575693 rs1553412981 |
533 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480986 RCV002402395 rs1064794388 |
534 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402873 rs1669350157 RCV001309917 RCV001354658 |
534 | N>D | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572723598 RCV001012376 RCV002551759 CA346746960 |
534 | N>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346746964 CA46708424 rs763712971 RCV000761146 RCV000575962 RCV001012381 RCV001860705 RCV000679216 RCV000533328 |
534 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1572723598 RCV001179351 RCV002558907 |
534 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009488 rs63751234 |
535 | Y>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012343 rs376476188 RCV000811750 CA067894 |
535 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001185678 rs765983691 |
536 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765983691 CA067909 RCV000702585 RCV002397462 |
536 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000131295 CA008866 RCV000693545 rs587782352 |
536 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs765983691 RCV000570634 CA346746986 |
536 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000822280 CA346746995 RCV000491862 rs587782352 |
536 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000791395 RCV000657535 RCV000196707 RCV000213843 rs863224829 |
537 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802858 RCV002388493 rs1572723640 |
537 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753276270 RCV000686466 RCV000572199 CA067918 |
537 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1390820576 RCV001233505 CA346747012 |
537 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001209879 RCV002402621 rs1669352196 |
538 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773949 RCV001355603 rs1230092559 |
538 | Y>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779218 CA008889 RCV000074670 |
538 | Y>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608049 RCV001804804 RCV000074669 CA008881 |
538 | Y>* | Lynch syndrome 1 Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346747030 rs728619 RCV001012423 |
538 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_038037 CA46708446 rs728619 RCV001063636 |
538 | Y>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553412999 RCV000629747 RCV001249982 CA346747043 |
539 | L>F | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810433 CA346747048 rs1422865375 |
539 | L>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000690564 rs201996928 CA346747054 |
540 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000034493 RCV000583196 rs201996928 RCV000693805 CA008908 |
540 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201996928 CA008916 RCV000468959 RCV000491381 RCV000160667 |
540 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000481569 RCV000491419 RCV001543126 RCV000685620 rs1064793600 RCV000515764 |
540 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657410 RCV002397334 rs1553413006 |
540 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181719 rs587779778 CA067945 RCV000791885 |
541 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779778 CA008929 RCV000129248 RCV000114750 |
541 | S>R | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669353846 RCV001191776 |
542 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012474 rs1572723719 |
543 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074672 RCV001383736 rs587779219 RCV002399427 |
543 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572723712 CA346747107 RCV001012476 |
543 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346747119 rs1553413015 COSM1684706 RCV000584667 RCV001067724 |
543 | K>R | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1553413015 RCV001052275 |
543 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012496 rs1572723723 |
544 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669354866 RCV001057020 |
544 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012504 RCV001309805 CA346747161 rs1296237769 |
544 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000708867 rs267608064 RCV000074673 RCV000558194 RCV000986717 RCV000129244 RCV000202281 |
545 | K>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074674 rs63749874 RCV000761604 RCV000630020 RCV000497289 RCV000115378 |
545 | K>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000479973 RCV000545794 RCV000574287 rs1064793403 RCV000765683 CA16617656 RCV000659891 |
545 | K>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002534119 RCV000774145 CA346747174 rs1558662390 |
545 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162470 RCV000529714 RCV000074676 rs267608076 RCV000575511 RCV000217244 |
546 | E>missing | Hereditary cancer-predisposing syndrome Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669356333 RCV001176141 RCV002559689 |
546 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000487153 rs373554374 CA067957 RCV000582070 RCV000706852 |
546 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA008977 rs63751172 RCV001374215 RCV002399428 |
546 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001809902 rs1572723786 RCV001012525 |
547 | E>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413026 RCV000703093 CA346747204 RCV000583651 |
547 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661033 RCV001243735 RCV001535644 RCV000214419 |
549 | S>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200447622 RCV000776441 RCV000810051 RCV000589561 CA46708577 |
549 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200447622 RCV001189320 RCV001231469 |
549 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200447622 RCV000546737 RCV000115379 RCV000575160 CA008999 |
549 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703229 RCV001191353 rs1558662438 |
550 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582055 rs878853710 RCV000234013 RCV000580239 |
550 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000559154 rs878853710 CA346747272 |
550 | S>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000216184 CA009006 rs587779917 RCV000115380 RCV000473749 RCV000662991 |
551 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1558662449 CA346747279 RCV000708868 |
551 | G>S | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745937181 RCV000463760 CA067967 RCV000215555 RCV001753682 |
552 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1064793423 CA16617657 RCV000775785 RCV000482794 |
552 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1294509946 CA346747309 RCV000569718 |
553 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002397367 CA346747316 rs1553413038 RCV000686114 |
553 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346747306 rs1294509946 RCV003166021 RCV001855936 RCV000761060 |
553 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001202078 CA346747315 rs1553413038 RCV000573994 RCV003129928 |
553 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580839 RCV001030493 RCV000473757 rs775716798 RCV001566013 CA067976 |
554 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000767214 RCV000560061 RCV000708869 rs730881791 RCV000160668 CA009015 RCV000571101 |
554 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA009030 RCV000811291 RCV001354487 RCV000160669 rs63751312 RCV001012627 |
556 | Y>C | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751312 RCV000074677 CA009037 |
556 | Y>F | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16610908 rs1060502895 RCV001186462 RCV000463114 |
556 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491343 rs1114167800 |
557 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413050 RCV000580927 CA346747398 |
557 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413050 RCV002402882 TCGA novel RCV001316771 |
557 | G>D | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001865591 rs1553413048 RCV000501040 CA346747391 |
557 | G>S | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002514742 RCV000131145 CA009052 rs587782284 |
558 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244929 RCV000758611 CA346747430 rs1558662565 RCV002397527 |
559 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009059 RCV000215230 RCV000490883 rs63750595 |
559 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215973 rs1669360293 |
560 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224617 RCV001344859 RCV001181720 RCV000196244 CA336267 |
560 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001228270 rs863224617 |
560 | F>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1042131614 CA46708754 RCV001349544 RCV001012703 |
561 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000582899 CA346747474 rs1553413057 |
561 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402600 RCV001206764 rs1553413057 |
561 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572724019 RCV001012710 |
563 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1386014501 RCV001307676 RCV001524884 |
563 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296048 CA346747515 RCV000579771 rs1386014501 |
563 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000576302 RCV001270947 RCV002397335 RCV000657688 CA346747528 rs864622153 RCV000491176 RCV000481005 RCV000204908 CA349097 RCV000705277 |
564 | S>* | Breast and/or ovarian cancer Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012765 CA346747519 rs876661163 |
564 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214162 rs876661163 RCV002516199 CA10577266 RCV000580364 |
564 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574484 rs63749973 CA346747546 |
566 | G>* | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758990693 CA068006 RCV001207065 RCV002402601 |
566 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758990693 RCV001525557 RCV001059402 |
566 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131251 RCV000411714 CA009071 VAR_012959 RCV000212651 rs63749973 RCV001328467 RCV001080487 |
566 | G>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC and LYNCH5; decreased mismatch repair activity; loss of protein expression [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000579748 rs758990693 CA346747551 |
566 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001189050 rs1669363053 |
567 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525457 RCV001188907 rs752435825 CA068029 |
567 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1558662651 CA346748495 RCV001193728 RCV000773616 RCV000807123 |
567 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413074 RCV002413795 RCV000629869 |
568 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258039 RCV000216742 RCV000144627 RCV000780461 rs587783056 RCV000542464 RCV003137645 |
569 | F>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669364351 RCV001043713 RCV001356817 |
569 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629901 CA346748540 rs1553413084 RCV002404726 |
569 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346748546 rs1558662672 RCV000773367 RCV001869094 |
569 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798519 CA346748543 RCV000772786 rs1553413084 |
569 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346748563 rs61748081 RCV000575004 |
570 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050588 RCV001012840 rs1572724112 CA346748569 |
570 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61748081 RCV001012760 RCV001360388 RCV000205186 CA068049 |
570 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000198092 CA337622 rs863224618 RCV000214529 RCV001753601 RCV001357770 |
571 | G>D | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012805 rs757006198 CA346748571 |
571 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001036388 RCV002402404 CA16617658 rs1064795256 RCV000487144 RCV001643202 |
572 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064795256 RCV000491403 CA346748599 RCV001204099 |
572 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46709475 RCV000705166 rs745772518 CA068066 RCV000482393 RCV000777254 RCV000580006 |
572 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669365820 RCV001055947 RCV001249967 RCV001779111 |
574 | S>* | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769914244 RCV001065970 CA068072 RCV000491483 RCV002527060 |
574 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001012905 CA346748711 rs1572724166 |
575 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669366197 RCV002402941 RCV001340416 |
575 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224619 RCV002298891 RCV001187970 |
575 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338928 rs863224619 COSM13396 RCV000199869 |
575 | D>Y | endometrium Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1669366443 RCV001241447 |
576 | D>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409690 RCV000115381 CA009088 rs542838372 RCV001762173 RCV000524118 RCV003137605 RCV000491847 RCV000074681 |
577 | R>C | Turcot syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000564916 rs542838372 RCV000766399 RCV000223441 RCV000555846 CA068077 |
577 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001355523 RCV000121579 RCV001249972 rs376220212 CA009094 COSM1215570 RCV000708870 RCV000587914 RCV000131162 RCV000204422 RCV000410866 RCV001762265 |
577 | R>H | Carcinoma of colon Variant assessed as Somatic; 0.0 impact. Lynch-like syndrome large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA346748747 RCV000566794 RCV000810909 rs542838372 |
577 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs768854566 RCV000803324 CA346748778 |
578 | H>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346748793 rs1553413111 RCV000544390 |
578 | H>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346748791 rs1553413111 RCV000694465 |
578 | H>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009101 RCV002255308 RCV002281982 RCV001037948 rs768854566 RCV000164895 RCV000663227 |
578 | H>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001875851 RCV001177543 rs1185721664 RCV001776127 |
579 | C>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775842 rs1185721664 CA346748802 RCV000566740 RCV000552269 |
579 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553413116 RCV000630165 |
580 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043808 rs41295270 RCV001356226 |
580 | S>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs41295270 RCV000485534 RCV000131189 RCV001818236 RCV000524119 CA009108 VAR_038038 RCV002498356 |
580 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002402627 CA346748831 RCV001211951 rs41295270 |
580 | S>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201518545 RCV000235184 RCV000230963 CA009115 RCV000115382 RCV000409045 RCV001192457 |
582 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs863224474 RCV001389260 RCV000195900 |
583 | R>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703999 CA346748907 rs1558662808 |
583 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1421598686 RCV000777570 CA346748917 |
583 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346748969 RCV001012960 rs1572724260 |
584 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346748942 rs1553413123 RCV000502800 |
584 | T>P | Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572724260 RCV001035529 RCV002409357 |
584 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779220 RCV000074683 RCV001290557 RCV000219463 RCV000791380 RCV000491054 RCV003128136 VAR_068711 CA009121 |
585 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000693023 rs1558662820 RCV002406578 CA346748973 |
585 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545304 RCV000781596 rs730881792 CA009128 RCV000774598 RCV000160670 |
586 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1044963129 CA16611137 RCV000468869 |
586 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346749050 rs1060502907 RCV001183199 |
587 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002397375 rs868575342 CA46709564 RCV000687523 |
587 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610898 rs1060502907 RCV002230109 |
587 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786202725 CA009144 RCV000206412 RCV000165680 RCV000662615 RCV001547984 |
588 | H>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043727 rs1669370186 |
588 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685854 CA346749116 rs1558662873 |
589 | Y>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002228668 CA009151 rs587782635 RCV000132027 |
590 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587782635 CA346749146 RCV001211375 RCV000571934 |
590 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000792978 CA346749121 RCV000573668 rs1553413153 |
590 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202108 RCV001381729 RCV000164756 RCV003114314 RCV002288738 |
591 | P>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554919 rs1114167765 RCV002289660 RCV001284176 RCV001355622 RCV002307521 RCV000491835 RCV001249965 |
591 | P>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052393 rs267608045 |
591 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176594 RCV000809292 rs1558662903 CA346749168 |
591 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002397381 CA346749161 RCV000688742 rs1558662903 |
591 | P>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346749153 rs267608045 RCV000776842 |
591 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215680 CA346749169 RCV000772441 RCV001194360 rs1558662912 |
592 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA068133 rs751179784 RCV001013109 |
593 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001233515 RCV002411860 rs1669372526 |
594 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327280 rs757029447 CA068137 |
594 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267608050 RCV001682753 RCV000074686 RCV001854275 RCV000564199 |
595 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630185 rs1553413170 CA346749252 |
595 | L>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070804 RCV002402479 rs1064793774 |
596 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115383 rs587779918 CA009191 RCV001800402 RCV000233835 RCV000409692 RCV000562745 |
596 | F>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1064793774 CA16617659 RCV000533746 RCV000485150 RCV002402387 |
596 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346749269 RCV000568285 RCV000629691 rs1064793774 RCV001821658 |
596 | F>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523447 RCV001036493 rs1553413178 CA346749280 |
597 | E>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865527 rs1114167769 RCV000491701 CA346749291 |
597 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346749287 RCV002279365 RCV000581946 rs1553413180 |
597 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759845 RCV000565738 RCV000115384 RCV000663315 CA009214 rs587779919 RCV000168326 |
598 | K>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491109 RCV000696635 rs587780670 RCV000122953 |
599 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689151 CA346749323 RCV002397384 rs1558663014 |
599 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013122 rs756043669 RCV000506097 RCV000228803 CA068155 |
599 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000776739 CA346749332 RCV001232611 rs1446456295 |
600 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553413197 RCV000546143 CA346749344 RCV002413431 |
601 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491043 rs1114167766 |
602 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230410 CA009231 RCV000409404 RCV000160715 RCV000491316 CA16610899 RCV001192458 RCV000627696 rs730881816 RCV003139659 RCV000231648 |
602 | S>* | Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413200 RCV000677890 |
604 | E>missing | Colon adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985827 rs63750735 RCV000986718 RCV000074687 RCV000558537 RCV001358609 RCV002408570 |
604 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036600 RCV003160216 rs1669375976 |
604 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815628 rs587781616 CA346749408 RCV002406854 |
605 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000708871 RCV000765684 RCV000129705 rs587781616 RCV000587763 CA009251 RCV000200701 |
605 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000470844 rs1060502886 RCV001199932 RCV000486089 RCV000491721 |
606 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1478102899 RCV001223021 CA346749421 RCV001187057 |
606 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002304223 rs1572724507 RCV001013293 CA346749430 |
606 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406754 RCV001249956 RCV000074688 RCV000482414 RCV002408571 rs587779221 RCV000797690 |
607 | T>missing | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167770 RCV000490905 |
607 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346749445 RCV001225392 rs1204144048 |
607 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000409963 RCV002225479 CA009262 rs786201676 RCV000164078 RCV000814908 |
607 | T>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000534585 RCV002413432 CA346749462 rs201613780 |
608 | I>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346749466 RCV000568791 rs1553413208 |
608 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009270 RCV000757926 RCV000196510 RCV002271428 rs201613780 RCV000589796 RCV000491442 |
608 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246377 rs1426910114 RCV000580797 CA346749476 |
609 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1669378654 RCV001246752 |
609 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346749480 RCV001185684 rs1426910114 |
609 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000579575 CA346749502 RCV001591346 rs1172760455 |
610 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244452 rs1558663145 |
610 | K>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067296 rs201735525 RCV000228068 CA009284 RCV000568274 CA009292 RCV000160672 |
610 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000773802 RCV001299077 CA346749514 rs1558663145 |
610 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413217 RCV000580753 CA346749553 |
611 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413220 CA346749562 RCV000811647 RCV000564549 |
611 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669379939 RCV001225680 |
611 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214922 rs1669380698 |
612 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346749580 rs63750564 RCV000074690 RCV002408572 CA009299 RCV000629964 |
612 | S>* | Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202838 RCV001193125 RCV002411724 rs1669381138 |
613 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669381714 RCV001037325 RCV002409370 |
614 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000767215 RCV002229430 rs730881825 RCV000160741 |
615 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009321 RCV000168072 RCV000165560 RCV000479956 COSM1532207 RCV002469035 rs730881793 |
615 | C>F | lung Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1572724620 CA346749636 RCV000818925 |
615 | C>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193697 RCV000160673 RCV000410091 RCV000524120 RCV001798554 RCV000304378 CA009314 rs730881793 RCV000212653 |
615 | C>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881793 RCV001185088 |
615 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572724644 CA346749669 RCV001013397 |
616 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA068191 RCV000524121 RCV000410099 RCV000210205 RCV001284178 rs772363120 RCV000575424 |
616 | S>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772363120 RCV000535515 CA346749690 RCV000570791 |
616 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000697376 RCV001756216 CA346749707 rs773619924 |
617 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001806119 CA068196 RCV001322251 RCV002546093 rs773619924 |
617 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553413228 RCV000630018 CA346749734 |
617 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347523 rs747576518 |
618 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009330 rs63751121 RCV001762174 RCV000524122 VAR_043952 RCV000132230 RCV000221704 |
619 | E>D | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040752 rs1669384406 RCV002409390 |
619 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669385083 RCV001060048 |
620 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661043 RCV002279366 RCV000583013 CA346749808 |
620 | G>C | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10577265 RCV000662360 RCV000569553 rs876661043 RCV000215890 RCV000225881 |
620 | G>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1572724689 RCV001013434 |
622 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778529 RCV000121572 CA009337 RCV000791828 RCV000166714 |
622 | I>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1042817 RCV000528539 RCV002413433 CA346749857 |
622 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587778529 CA346749840 RCV000775819 |
622 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001082588 CA009344 RCV000128867 RCV000034494 RCV000662448 VAR_029244 rs3136334 RCV000074692 RCV000121577 |
623 | P>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM13891 CA009355 VAR_043953 RCV001186403 rs63750462 RCV000074693 |
623 | P>L | Hereditary cancer-predisposing syndrome skin Hereditary nonpolyposis colorectal neoplasms LYNCH5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs3136334 RCV000580833 RCV000706326 CA346749865 |
623 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856939 RCV000492003 rs777159874 RCV000501287 |
624 | G>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002408573 RCV000074694 rs71539659 |
624 | G>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763606858 CA346749907 RCV000692431 RCV001013417 |
624 | G>D | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM99084 RCV000233003 rs868760377 RCV000219912 RCV000657004 RCV000484834 RCV000662524 CA10578081 |
624 | G>S | Hereditary cancer-predisposing syndrome stomach Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001293521 CA068227 rs763606858 RCV000464191 RCV000217487 RCV000480702 |
624 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048652 RCV000584384 CA346749937 rs1553413253 RCV000657708 |
626 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013497 RCV000630163 CA346749935 rs1553413253 RCV001280932 |
626 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582056 rs767285340 RCV001351099 RCV000226833 |
626 | Q>H | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000570404 CA346749942 rs1553413257 RCV001865720 |
626 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225401 CA279790 RCV001354409 RCV000664275 RCV000202222 |
628 | W>* | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189312 CA346750023 rs876660921 RCV000819551 |
629 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000479951 RCV000571593 CA16617660 rs1064795030 |
629 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000615160 RCV002413434 rs1064795030 RCV000985828 CA346749990 RCV000554356 |
629 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001799718 CA346750028 RCV001219602 rs1572724808 RCV001013566 |
630 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213164 CA068250 RCV000198361 RCV000411644 RCV000781573 RCV001580468 rs755847154 RCV001357273 |
632 | K>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001051702 rs1669389662 |
632 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750065 RCV000583603 rs750800736 |
632 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46709839 RCV001186404 rs750800736 |
632 | K>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs876658604 RCV000221157 |
633 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074696 RCV000524125 RCV001284179 rs267608082 RCV001013617 |
633 | T>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629742 CA346750097 rs1553413271 RCV000664276 |
633 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132031 RCV000798290 RCV000490836 rs587782638 |
634 | L>missing | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061933 RCV001805840 RCV000759849 rs63751097 CA46709903 |
634 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001245630 rs1572724876 |
634 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750101 rs876658471 RCV001013615 |
634 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750130 RCV000758612 rs1558663439 RCV000819245 |
635 | R>K | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413281 CA346750161 RCV000702891 RCV000562869 |
636 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413281 CA346750157 RCV000555274 |
636 | T>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413281 RCV002268189 RCV001339342 CA346750159 RCV000572194 |
636 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669391709 RCV001042943 |
637 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750185 RCV000564992 rs1553413288 |
637 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037695 rs1669391709 RCV002409373 |
637 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013670 CA346750198 rs1303026707 RCV001776016 RCV000804445 |
638 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000471789 rs1060502877 |
638 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629888 rs1553413298 CA346750206 |
638 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413298 RCV001183196 |
638 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013663 CA658655795 rs1553413293 RCV000543809 |
638 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630190 rs1553413294 RCV001194332 RCV001013671 |
639 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166834 RCV000707545 rs368059229 CA009457 |
639 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000781602 RCV001094683 CA009445 RCV000524126 rs143517321 RCV000164891 RCV000480270 RCV000200231 |
639 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA46709928 rs953951846 RCV001219710 |
640 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869040863 RCV002413435 RCV000536802 |
641 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413305 CA346750292 RCV001386205 COSM1021272 RCV000657743 RCV001013705 |
641 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1057523276 CA346750304 RCV001013709 |
641 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167505 rs786203970 RCV000629967 RCV001800507 |
641 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002412038 RCV001323411 rs1057523080 |
643 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524127 RCV000074697 RCV000219792 RCV000166227 RCV001355116 rs34938432 RCV001703971 COSM35884 RCV000409155 CA009475 |
644 | R>S | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 breast Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1324616148 RCV000801816 CA346750378 |
644 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002411838 RCV001227347 rs1669395325 |
645 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558663559 RCV000781581 |
645 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617661 rs1064795591 RCV000490938 RCV000685973 RCV000483556 |
645 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001383262 rs1114167747 RCV000490928 |
646 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758631207 RCV000801897 CA346750442 |
646 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001356893 RCV000229693 RCV001798729 rs201096652 RCV001192456 RCV000482874 RCV000491214 CA068286 |
646 | K>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001876033 rs1669396442 RCV001181659 |
647 | L>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577270 RCV000216304 RCV000567024 RCV001071803 rs876661082 |
648 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323891 rs965228819 |
648 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562905 CA16610993 rs777799551 RCV000458338 RCV002281095 |
649 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA16617662 rs1064793188 RCV001192454 RCV000629981 RCV000575218 RCV000485501 |
649 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346750538 rs536562413 RCV001013728 |
651 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs144823143 CA068312 RCV001220631 RCV001013821 |
651 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000563700 CA068307 rs536562413 |
651 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001013833 CA346750574 rs1558663683 |
652 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750571 RCV000702075 rs1558663683 |
652 | G>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240700 RCV000561961 rs1553413323 CA346750564 |
652 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750566 rs1553413323 RCV000558083 RCV000570350 |
652 | G>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578089 rs876659442 RCV000214027 |
653 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000707381 rs768095444 RCV000223386 CA068319 RCV001239977 CA46710015 |
653 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10578088 rs768095444 RCV000222892 RCV000629954 RCV000478131 |
653 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001060756 rs63751167 RCV001191931 RCV000074699 |
654 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323487 CA068329 rs148592158 |
654 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001860090 CA068326 RCV000581390 rs761433489 |
654 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669399925 RCV003166791 RCV001313994 |
654 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166785 RCV001315250 rs786203468 CA009498 |
655 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227206 RCV001553683 rs1669401102 |
656 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000215322 RCV000557139 rs876661205 RCV000491140 |
657 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491722 RCV001293606 RCV000494682 CA346750600 RCV001204100 rs1114167709 |
657 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574848 rs1553413339 RCV001227127 CA346750604 |
657 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629867 RCV001181390 CA346750601 rs1459883720 |
657 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346750602 RCV000569127 RCV000534112 rs1459883720 |
657 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346750608 RCV003162790 rs1553413340 RCV000629795 |
658 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185701 rs1669402625 |
659 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418411 RCV000766575 rs1060502894 RCV000471001 CA16610909 RCV000479094 |
660 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001180660 rs1669403194 |
660 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413348 RCV000568637 |
661 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750628 rs1553413342 RCV000551148 |
661 | G>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013945 TCGA novel rs1572725169 CA346750625 |
661 | G>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001061738 rs1669404759 |
662 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413349 RCV001326274 CA346750633 RCV001525365 |
662 | M>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502935 RCV001294577 RCV002418882 |
662 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564675 rs1553413349 CA346750634 RCV001247491 |
662 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502935 RCV000461074 RCV001013909 CA16610994 |
662 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001177976 rs1669404423 |
662 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774323 RCV001042028 CA346750644 rs1558663789 |
663 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558663809 RCV002422572 RCV000701633 CA346750647 |
664 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579875 RCV000523105 rs1553413355 RCV000629977 CA346750650 |
664 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851335 RCV000491799 rs1114167694 |
665 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117420 RCV002420653 rs1333555322 RCV000602898 CA346750651 |
665 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002290530 RCV001860755 rs1572725235 RCV001014008 |
665 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778532 RCV000199087 RCV000663104 RCV000121580 RCV001775599 CA009522 RCV000774599 |
665 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA009517 RCV001850300 rs786201952 RCV000164500 |
665 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014010 RCV001860756 RCV001766835 rs760494271 CA346750660 |
666 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA009527 RCV001357734 rs587779222 |
666 | S>P | Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760494271 CA346750659 RCV000772273 RCV001346051 |
666 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000528067 RCV002416339 CA346750667 RCV003153675 RCV001192423 RCV001039583 rs1361745058 RCV000580603 |
667 | D>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000662835 CA009534 RCV000160675 RCV000233389 RCV000214441 rs151086192 |
667 | D>H | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs876661080 RCV000562974 RCV001054199 CA10577271 RCV000219193 |
668 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014059 CA346750670 rs923709484 |
668 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000507463 CA009545 rs555209664 RCV000130794 RCV001083193 RCV000679222 |
669 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs753812859 CA068352 RCV001186405 |
669 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502918 RCV000462642 RCV000490988 |
670 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009551 RCV002417298 rs63749857 |
670 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420342 RCV000533430 rs765289515 CA346750687 |
671 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002266987 RCV000798635 CA346750694 rs1460598011 RCV000572638 |
672 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001565312 rs377356882 RCV000491796 RCV000470045 CA068368 |
673 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA348430 rs864622085 RCV001174913 RCV001351226 RCV000569723 RCV000204190 |
673 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750696 RCV000823422 RCV000772973 rs377356882 |
673 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001014115 rs1558663954 RCV000702674 |
674 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219265 CA009565 RCV000541319 RCV000662844 rs587779223 RCV003151745 |
675 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346750707 rs1572725363 RCV000798582 |
675 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582057 RCV000231201 RCV000772336 rs878853713 |
675 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000552884 RCV000480920 rs1064794055 RCV001014127 RCV001356237 |
676 | K>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212656 RCV000131641 CA009570 RCV000204601 RCV000410949 rs143643688 RCV001354229 |
676 | K>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346750720 rs587779224 RCV000569677 RCV001221676 |
677 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346750723 RCV000772969 rs1558664009 |
677 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781574 RCV000553788 VAR_068712 RCV000164083 RCV000223471 CA009576 rs587779224 |
677 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA346750727 RCV000580872 rs1553413404 RCV002304216 |
678 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213514 RCV000985829 rs751778243 RCV000529803 CA068389 |
678 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876658864 RCV000219907 |
679 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750732 rs757741943 RCV000699274 |
679 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572725427 RCV001014154 RCV001364767 CA346750737 |
680 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750742 RCV001014157 rs1558664035 RCV000807134 |
680 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014168 rs1572725461 |
681 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002422764 RCV000806221 rs1572725436 |
681 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070185 rs1553413412 RCV000564526 COSM331329 CA346750745 |
681 | L>F | lung Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA346750744 RCV002415927 RCV000820511 rs1553413412 |
681 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608057 RCV000491528 RCV000074706 |
682 | S>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA068410 RCV000474217 rs587779225 RCV001014173 |
682 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001529431 CA009604 rs587779225 RCV001854276 |
682 | S>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000579532 rs587779225 CA346750752 |
682 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001548342 RCV000559237 rs1553413424 RCV001014206 |
683 | A>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630151 rs747699430 CA346750757 RCV000776862 |
683 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346750754 rs1572725487 RCV001014179 |
683 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706941 rs747699430 CA068414 |
683 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000074707 rs587779226 RCV001698959 |
684 | L>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322773 CA068420 RCV000481259 rs771445440 |
684 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA009614 VAR_043954 rs63750358 |
685 | G>A | CRC; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001346046 CA346750763 rs1553413427 RCV000580109 RCV000781578 |
685 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226342 RCV001782720 rs878853711 RCV001328436 |
686 | G>missing | Hereditary nonpolyposis colon cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001797726 RCV000460149 rs1060502934 CA16610900 RCV000775722 RCV001576673 |
686 | G>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001353773 RCV000524130 RCV000074709 CA009620 RCV000128865 RCV001526863 RCV000576301 rs587779227 RCV000583928 RCV000212657 |
686 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060502934 CA346750767 RCV001014253 |
686 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000162397 RCV000201965 RCV002222379 rs267608068 RCV000074710 RCV001353419 CA009627 RCV000530716 |
687 | C>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776692 RCV000536294 rs1553413433 CA346750775 |
687 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491580 RCV000499524 rs267608068 RCV001851338 CA346750777 |
687 | C>W | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001310160 RCV000074711 RCV000592291 RCV001049192 RCV001353545 rs63750075 RCV000165752 |
688 | V>missing | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002422510 COSM721727 rs1558664138 RCV000693728 CA346750786 |
689 | F>V | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs559125434 CA346750796 RCV000573166 |
690 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA009644 rs730881794 RCV000160676 RCV000822293 |
690 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000220311 rs876660386 |
691 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014292 CA068445 RCV001061259 RCV001569098 rs765224443 |
691 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669417999 RCV001205404 |
692 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211376 rs752532578 RCV002268403 RCV001014331 CA068450 |
692 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001824831 RCV002264957 RCV000561357 rs975991506 CA46710290 RCV002289777 RCV000698328 |
692 | K>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs267608083 RCV001293834 RCV000687847 RCV002422478 RCV001249958 |
693 | K>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608083 RCV000629924 RCV000657407 RCV000167251 RCV000210176 |
694 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167791 TCGA novel RCV000986719 CA346750822 |
694 | C>* | Variant assessed as Somatic; impact. Lynch syndrome 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA009656 RCV000822642 RCV001186406 rs587779228 |
694 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167791 RCV000491800 CA346750825 |
694 | C>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348705 rs1669418611 |
695 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192034 rs1669418611 |
695 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491305 rs1114167733 |
696 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009660 rs587779229 RCV000074713 RCV001014385 |
696 | I>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224475 RCV000491977 RCV000197466 |
697 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413460 RCV000630145 CA346750852 |
697 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182396 rs1669419578 |
698 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491939 rs1114167740 |
698 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000755028 CA346750867 rs63750832 RCV002282352 RCV002536550 |
698 | Q>* | Lynch syndrome 1 Variant assessed as Somatic; impact. Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM442969 RCV000480300 RCV000524131 rs63750832 VAR_012960 CA009674 RCV000662368 RCV000130187 |
698 | Q>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 breast Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) HNPCC; unknown pathological significance [NCI-TCGA, ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1553413465 RCV001853779 CA346750872 RCV000569729 |
698 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750888 CA346750887 rs1424749498 RCV000570696 |
699 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA009680 RCV002415522 rs587779230 RCV001360931 |
700 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000684784 CA10578092 RCV000232938 RCV000218126 rs587779230 RCV002478805 |
700 | L>I | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779230 RCV001064098 |
700 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558664251 RCV000785563 |
701 | L>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669420541 RCV001305082 RCV002418923 |
701 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751419 RCV001014449 RCV000629877 RCV000074717 RCV002490669 CA009686 |
702 | S>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129429 rs63751419 CA009694 RCV000630083 |
702 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346750915 rs1553413477 RCV000579661 |
702 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568732 CA346750931 rs1064793189 |
703 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355364 RCV000563641 CA16617666 RCV001193732 RCV000486361 RCV000703273 rs1064793189 |
703 | M>T | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662419 RCV000708872 rs751867550 RCV000227011 CA068470 RCV001762514 RCV000483631 RCV000580465 |
703 | M>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000561829 rs370237509 RCV001315932 CA346750947 |
704 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1669422012 RCV001303328 |
705 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799397 rs1572725803 |
706 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346750971 RCV000491970 rs587779231 |
706 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003137606 RCV001854277 CA009702 RCV000074718 RCV001530136 rs587779231 |
706 | F>S | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167798 RCV001179518 |
707 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420343 CA346750986 RCV000549707 rs1553413485 |
707 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486081 rs1064795960 CA16617667 RCV000491313 |
708 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418847 rs1669422822 RCV001245832 |
708 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781650 RCV000129782 |
709 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558664335 RCV002422672 RCV000781598 |
709 | Y>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779232 CA009710 RCV003148645 RCV000130308 RCV000074719 RCV000690199 |
709 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775968 RCV002422541 CA346751012 rs1558664366 RCV000697650 |
709 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669423193 RCV001048940 |
709 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223503 RCV001819725 rs750817344 CA346751025 RCV001014550 |
710 | I>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669423758 RCV001214303 |
710 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001565803 CA10582059 RCV000572141 RCV000230905 rs878853714 |
711 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568510 rs878853714 CA346751032 |
711 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622257 RCV001382365 RCV000203704 RCV000708611 |
713 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183872 rs1669424907 |
713 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881795 CA009716 RCV001052168 RCV000160677 |
713 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221120 RCV000997142 CA10578093 RCV000525574 rs876660123 |
713 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000542696 rs730881796 RCV000160678 RCV001174633 RCV000212658 CA009720 |
714 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000629814 RCV000574695 CA068492 rs730881796 |
714 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660068 RCV000218002 CA10578094 |
714 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812831 rs1221484522 RCV000679223 RCV001014567 CA346751090 |
715 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1669425686 RCV001324179 |
715 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001380732 rs786204048 RCV000491742 RCV001357870 RCV000167893 |
716 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749711246 RCV000550483 CA068496 RCV000572538 RCV001548306 |
716 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000212659 rs587782805 RCV000468830 RCV000132365 CA009755 RCV000411918 |
716 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000484159 CA16617668 rs587782805 RCV001307878 RCV000565716 |
716 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs267608058 RCV000524132 RCV002498357 RCV001353475 RCV000411212 RCV000202111 RCV000162408 RCV000074720 |
717 | V>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772207 rs1558664474 |
717 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812085 rs1558664476 CA346751107 RCV002424910 |
717 | V>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558664476 RCV001064920 RCV002429714 |
717 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558664476 RCV000777636 RCV001326945 CA346751106 |
717 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771662801 RCV001216312 |
718 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669427136 RCV001219846 |
718 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214718 RCV000205525 RCV002254688 rs373418713 RCV000985830 CA068506 |
719 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000806588 RCV002424876 rs373418713 RCV003153848 CA346751133 |
719 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001185630 rs1258419289 RCV002298890 |
720 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802427 CA068511 RCV000570519 rs185531778 |
720 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA346751141 RCV000574206 rs185531778 |
720 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA009782 RCV000469296 rs537604099 RCV000132526 RCV001201355 |
721 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000538892 RCV000483504 rs876660319 CA10578095 RCV000222450 |
721 | R>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660319 RCV001184095 RCV000705334 CA346751145 |
721 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660319 CA346751146 RCV000777299 |
721 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167786 RCV000490945 |
722 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776198410 RCV001299179 CA346751157 RCV000561723 |
722 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776198410 CA346751159 RCV000798935 RCV001559763 |
722 | S>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001210915 rs776198410 CA068523 |
722 | S>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001041140 RCV001552358 RCV001797654 RCV000166842 CA009788 rs759403696 |
723 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759403696 RCV001014626 CA346751166 |
723 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16617669 rs1064793492 RCV001014624 RCV001851150 RCV000484115 |
723 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009795 RCV000115387 RCV000630209 rs587779922 RCV000219041 |
724 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1254757804 CA346751174 RCV001180472 RCV001303803 |
724 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000556059 RCV000410569 RCV003149718 CA009807 RCV000565677 VAR_043955 rs63750304 |
725 | I>M | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000212660 rs148898662 RCV000781575 RCV000986720 RCV001798329 RCV000115388 RCV000204867 CA009801 |
725 | I>V | Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001352101 rs1406957215 |
726 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1286282 RCV000219205 CA10578096 rs876660381 RCV001327131 |
726 | F>L | autonomic_ganglia Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001064885 rs574358605 CA346751197 RCV001014642 |
726 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000662512 CA009822 RCV000568729 RCV001582560 RCV000524133 rs574358605 |
726 | F>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346751210 rs767861096 RCV001861935 RCV000708873 RCV003165936 |
727 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000809724 rs767861096 CA068562 RCV002307625 RCV001190570 |
727 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000774601 RCV000629678 CA068566 rs767861096 |
727 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761930694 RCV001041663 |
727 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014714 rs1572726086 RCV000805554 CA346751218 |
728 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002526878 CA346751227 rs1553413552 RCV000571491 |
728 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA068575 RCV000765685 RCV000564228 RCV000688061 RCV001591322 rs35552856 |
728 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA009828 VAR_043956 RCV000657127 RCV000221222 RCV000688768 rs35552856 RCV000563245 |
728 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH5; unknown pathological significance; no impairment of heterodimerization with MSH2; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001177159 RCV000701911 CA346751245 rs1553413553 |
729 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575588 rs1553413553 RCV000706558 CA346751247 |
729 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782900 RCV002228511 CA009841 RCV000132542 |
730 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782900 RCV002424722 CA346751263 RCV000707074 |
730 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000074725 RCV000490877 RCV001206112 CA009848 rs63751442 |
731 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751442 RCV001323077 |
731 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346751300 rs1553413559 RCV000629771 |
731 | Q>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001262334 rs1669432834 |
732 | R>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002281906 CA009856 RCV000524134 RCV000212661 rs63751127 RCV000132226 RCV000074726 |
732 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000483131 CA16617670 RCV000571852 rs749746725 RCV001238127 |
732 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA068599 COSM1408304 RCV000532996 RCV000758666 RCV000564357 RCV000223534 rs749746725 |
732 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000629886 rs1359474814 RCV000564863 CA346751357 |
733 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000818585 CA346751333 rs1355166868 RCV000572098 |
733 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000463556 rs1060502883 RCV000575485 CA16611143 |
734 | V>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014754 RCV000122955 CA009862 rs587780671 RCV001574776 |
734 | V>M | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1572726178 RCV001014758 |
735 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167959 rs786204071 RCV000491880 CA009870 RCV000409734 RCV000759851 |
735 | L>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580564 rs1553413574 CA346751386 |
735 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346751383 RCV000545332 rs786204071 RCV001179770 |
735 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572726201 RCV001014728 CA346751404 |
736 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490995 CA10582060 RCV000228587 rs869312798 |
737 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001044010 rs869312798 RCV000210157 CA357802 RCV000215593 |
737 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876658848 RCV000219217 |
738 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346752394 RCV001014812 rs1572726232 |
738 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346752399 RCV000566625 RCV001284181 rs1553413582 |
739 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221452 CA346752403 RCV000564325 rs1553413583 |
739 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745483465 RCV001222639 CA346752427 RCV001014787 CA068617 |
740 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV001552395 CA009877 RCV000129942 RCV000693873 rs587781739 RCV001030494 |
742 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878853715 CA16611000 RCV002429525 RCV002230106 |
742 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340825 RCV000230514 rs878853715 RCV000573144 CA10582061 |
742 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167761 RCV000491741 |
743 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183359 rs1057521504 |
743 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001355844 RCV000778100 RCV000198617 rs786201050 RCV000221977 RCV001535485 RCV000524135 RCV000162451 |
744 | E>missing | Turcot syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192007 rs1669437051 |
744 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs556339046 CA068645 RCV000663137 RCV000473197 RCV001014897 |
745 | I>M | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1558664787 CA346752536 RCV000680208 |
745 | I>N | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768731337 RCV002424671 CA068641 RCV000697491 |
745 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000815971 RCV002427015 rs1572726309 |
746 | F>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630178 RCV002420672 CA346752552 rs1553413604 |
746 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413599 RCV002431514 RCV000558657 |
747 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035321 CA10578100 RCV001192487 RCV000222866 rs876660234 |
747 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002418756 rs1669438423 RCV001220101 |
748 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230114 CA16610924 rs1060502916 RCV001014916 |
749 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876660143 RCV002307458 RCV002519723 CA10578101 RCV000221916 |
749 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346752639 RCV000566523 rs1060502916 RCV000823922 |
749 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000205769 CA009894 RCV000491170 RCV000587383 RCV000663327 rs730881817 |
750 | T>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002448602 RCV000547187 rs1553413626 CA346752673 |
751 | N>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299209 rs1296033854 |
752 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1296033854 RCV001185648 CA346752701 |
752 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000473229 rs876660934 RCV000985831 RCV000219984 CA10578102 |
753 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014956 RCV001860780 CA346752731 rs876660934 |
753 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346752728 RCV000629993 rs876660934 |
753 | S>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759852 RCV001193096 RCV000629769 rs1553413640 |
754 | T>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808610 rs545057945 RCV000776623 CA346752742 |
754 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000772630 RCV000821022 rs545057945 RCV000160679 CA009921 |
754 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10578103 RCV002515705 rs545057945 RCV000217257 |
754 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1669441030 RCV002445264 RCV001050030 |
755 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686396 CA346752788 RCV000563595 RCV001764688 rs1553413644 |
755 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669440921 RCV001312322 |
755 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669441162 RCV001057339 |
756 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306682 rs1669441430 |
756 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002444869 RCV000216101 RCV002271474 RCV000688578 rs876661025 |
757 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413648 RCV002447270 RCV001296962 |
757 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346752822 RCV000567400 rs1553413648 |
757 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs56371757 RCV001865651 CA346752834 RCV001182960 RCV000506265 |
758 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001015027 rs1553413655 RCV000548070 CA346752863 |
759 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669442548 RCV001177975 RCV002265004 |
759 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346752874 rs1322642187 RCV000685165 |
760 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491817 RCV000756351 rs1114167721 |
761 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812027 rs1572726468 |
761 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657020 RCV000195792 RCV000129031 rs199876321 RCV000662484 RCV001002443 CA009950 |
761 | R>G | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000410000 RCV002267827 RCV001045519 RCV001284513 RCV002444527 rs587779233 CA009957 |
761 | R>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779233 CA346752899 RCV000528774 |
761 | R>M | Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001257482 RCV000793348 RCV001193700 RCV001190571 rs587779233 CA068739 |
761 | R>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001203930 TCGA novel RCV002307698 rs1669443766 |
762 | V>I | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA16610931 rs1060502913 RCV000477003 |
763 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1558664969 CA346752932 RCV000758667 |
763 | D>N | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575646 RCV001858113 RCV000657404 rs1553413663 |
764 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002450651 RCV002267973 rs561198849 CA10577273 RCV000220828 |
764 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002307420 CA009966 RCV000662379 rs561198849 RCV000480884 RCV000630065 RCV000163700 |
764 | T>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002230398 rs1553413673 |
765 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806058 CA346752979 RCV001184647 rs63750985 |
765 | C>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346752975 rs1553413671 RCV002456039 RCV001764523 RCV000549148 |
765 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063838 CA009975 RCV000570110 rs63750985 |
765 | C>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491021 rs1114167712 |
766 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030495 RCV001015050 rs1060502870 CA346753000 |
766 | H>L | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768535330 CA068773 RCV001351789 RCV000986721 |
766 | H>Q | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16610933 rs1060502870 RCV002230403 RCV000574487 |
766 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256476 RCV000696068 CA346752995 rs1414463878 |
766 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669445829 RCV001048297 |
767 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346753020 rs774452933 RCV002448926 RCV000629680 |
767 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587781462 RCV000477388 CA009983 RCV001257543 RCV000129397 RCV000501569 RCV000622945 RCV001251301 RCV000410431 RCV001353758 |
767 | T>I | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Rhabdomyosarcoma Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781462 RCV000562338 CA346753028 RCV001297529 |
767 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781462 RCV000765686 RCV001284514 CA068793 RCV000662407 RCV000580933 RCV000542142 |
767 | T>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750647 RCV001203081 RCV001545670 RCV000491736 |
768 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822224 RCV001190572 CA068796 RCV000481556 rs35946687 |
768 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491826 RCV001865530 rs773162893 CA346753067 |
768 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773162893 CA46710789 RCV000630124 |
768 | P>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001015011 CA346753064 rs35946687 |
768 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000704855 RCV000218163 RCV000204888 rs864622585 |
770 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129431 rs587781478 RCV000629875 CA010002 |
770 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA350262 RCV000206203 rs864622586 |
771 | K>M | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823311 CA346753156 rs1572726671 |
771 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622586 RCV000562492 CA346753136 RCV000629918 |
771 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346753162 rs63750138 RCV000573828 |
772 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001015160 RCV000418671 VAR_043957 CA068814 rs63750725 RCV000758668 RCV000234432 |
772 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002467437 RCV001353694 RCV000162422 RCV000218399 CA010016 rs63750138 RCV000074732 VAR_043958 RCV000524139 |
772 | R>W | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500571 rs1553413693 |
773 | L>missing | Carcinoma of colon [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224623 RCV001320881 |
773 | L>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA337352 RCV001190573 RCV001313045 rs863224623 RCV000197646 |
773 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570810 RCV001553643 CA348302 rs864622324 RCV000662629 RCV001589090 RCV000204030 |
774 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759915781 RCV001230742 CA068824 |
775 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000587268 CA346753321 RCV000772486 RCV000821395 rs1463214972 |
776 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1669449123 RCV001184424 |
776 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214405 rs876660037 CA10578104 |
777 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074736 CA010055 rs587779234 |
777 | W>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346753361 RCV000581010 rs876660037 |
777 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015208 rs267608067 CA346753329 |
777 | W>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130193 rs267608067 CA010044 |
777 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1276682605 CA346753373 RCV001229609 RCV001015213 |
778 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001058755 rs1320505279 |
779 | C>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1320505279 RCV001045592 CA346753396 RCV001188720 |
779 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002527991 RCV001535619 rs1553413707 RCV000563205 CA346753409 |
779 | C>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052471 RCV002445279 rs1669450482 |
779 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA068844 rs63749899 RCV001045384 |
780 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000589271 RCV002527180 RCV000664307 CA346753452 rs1553413710 |
781 | P>L | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010084 RCV002448291 rs587779235 |
781 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491573 rs587779235 RCV000160680 RCV000659892 RCV001850271 CA010074 |
781 | P>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1669451548 RCV001039043 |
782 | L>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556290 RCV001353421 RCV000491787 RCV000657810 RCV000074739 rs267608065 |
782 | L>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000776416 rs1553413714 CA346753461 |
782 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413714 RCV001226940 |
782 | L>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346753457 RCV000544057 rs1553413714 |
782 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465704 RCV000708874 CA068851 RCV000222377 rs373721483 RCV001800572 RCV001789766 |
783 | C>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003144383 RCV000563894 RCV000688705 rs1553413717 |
784 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228373 rs1669452197 |
784 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413722 CA346753543 RCV000571434 RCV000695468 |
784 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794488 rs1572726859 CA346753552 |
785 | H>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351990 rs1669452752 |
785 | H>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002444873 RCV000218334 RCV001854744 rs876661193 CA10577276 |
785 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000759132 RCV000464632 CA16611005 rs1060502942 RCV000566667 |
785 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001337331 rs1669452752 |
785 | H>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445397 RCV001140445 CA068860 rs773193199 RCV001362434 |
786 | Y>H | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001178184 rs773193199 RCV000586211 CA346753566 |
786 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002230112 rs63750637 CA16611147 |
787 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669453352 RCV001182585 |
787 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010113 RCV002448539 rs63750637 VAR_043959 |
787 | A>V | Hereditary cancer-predisposing syndrome CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001189758 rs1669453750 |
788 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002444578 rs587778530 RCV000121573 CA010122 RCV001238207 |
788 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572726916 RCV001015306 CA346753670 |
790 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413730 CA346753665 RCV000573544 |
790 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413732 RCV000532502 |
791 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165325 rs749918474 RCV000537745 CA010130 |
791 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219569 rs755587950 RCV002282050 RCV000470330 CA068883 |
791 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779236 RCV002453380 RCV000629722 CA010140 |
792 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346753721 rs1553413737 RCV000545838 RCV002448603 |
793 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779237 RCV000074742 |
794 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346753787 RCV003153819 RCV000704351 rs1558665293 |
795 | I>M | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000588994 RCV000412250 RCV001084037 RCV000160681 RCV003149835 rs202127474 CA010164 RCV000172814 |
795 | I>T | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001811026 RCV001015335 CA46711010 rs865931684 RCV000558096 |
795 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558665297 RCV002424656 CA346753798 RCV000695381 |
796 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204085 RCV002453741 rs532445704 CA348342 |
796 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001015377 CA346753843 rs754870044 |
797 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779238 RCV000629860 RCV000572114 CA010176 |
798 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669457095 RCV001206973 |
799 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166727 rs1669456977 RCV001304954 |
799 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750895 VAR_043960 CA46711056 |
800 | V>A | CRC; somatic mutation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001015405 rs61748083 RCV001860791 CA068922 |
800 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000115389 RCV001353412 RCV000524141 RCV001762175 RCV000680176 RCV000212665 RCV000656572 RCV001798252 CA010185 VAR_012961 RCV000409574 RCV000074744 rs61748083 RCV000148650 |
800 | V>L | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1265121267 CA346753926 RCV000629764 RCV002431851 |
801 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553413764 CA346753942 RCV000629957 RCV000582673 |
802 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413764 RCV001045275 |
802 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1434270332 RCV000547711 RCV001015434 CA346753965 RCV002282203 |
803 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63751450 RCV000148651 RCV000074746 RCV000524143 RCV001356592 RCV000586083 RCV000130124 VAR_012962 CA010206 RCV000410826 RCV000212666 |
803 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome CRC; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002456040 RCV000527339 rs1553413770 CA346753957 |
803 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793552 RCV000781592 CA16617672 RCV000481034 RCV000572051 RCV001140446 RCV000528139 |
804 | K>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346753976 rs1558665377 RCV001585704 RCV001320365 RCV000777165 |
804 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346753989 RCV000571872 rs928923556 |
805 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346753997 RCV002458235 RCV000692527 rs1219649543 |
805 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040496 rs1572727090 RCV001015269 CA346753993 |
805 | I>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572727090 RCV001341390 RCV002447401 |
805 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA46711082 rs928923556 RCV000815080 RCV000564287 RCV000985832 |
805 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001582637 RCV000629702 RCV000160717 RCV001354913 RCV000409643 rs372990379 RCV000570608 CA010210 |
806 | S>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705699 CA346754006 rs372990379 RCV002442532 |
806 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051274 rs1669459644 |
806 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413784 RCV000629823 RCV001015482 |
807 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669460814 RCV001193731 |
807 | E>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346754007 RCV000688489 RCV000601053 rs587779923 |
807 | E>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000199520 RCV001249960 rs587779923 RCV000409470 RCV000765687 RCV000656895 CA010227 RCV000491756 RCV000708875 RCV000115390 |
807 | E>K | Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1434578765 RCV003153936 RCV002298885 RCV001183837 |
808 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257480 RCV000812013 rs775815297 RCV002453838 CA069038 |
809 | V>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001293869 RCV001198423 rs587779240 |
809 | V>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572727176 RCV001001449 RCV002445160 |
810 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763248984 RCV001190575 CA069048 |
810 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001015509 rs1572727163 |
811 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451187 rs1669463455 RCV001046871 |
811 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661054 RCV002450643 CA10577275 RCV000220482 |
812 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346754038 RCV001015525 rs1572727192 RCV002549421 |
812 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001225729 rs1669464717 |
813 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669464545 RCV002456409 RCV001314209 |
814 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793190 CA16617673 RCV000570127 RCV002526515 RCV000481483 |
814 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377411318 CA069075 RCV001190576 RCV001238343 |
815 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10582062 RCV000234046 rs377411318 RCV000564117 |
815 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001851341 CA069080 RCV000490982 rs760129709 |
815 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000630035 RCV002457989 rs1553413803 CA346754059 |
816 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796676 RCV000580176 rs1553413804 CA346754063 |
816 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413804 RCV001185858 |
816 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413803 RCV001225578 |
816 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570761 CA346754065 rs1553413805 |
817 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691459 rs786203612 CA10578106 RCV000220336 |
818 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203612 RCV002447127 RCV001224487 |
818 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010280 rs786203612 RCV000167001 |
818 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669466483 RCV001233681 |
819 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346754084 rs1572727259 RCV001015602 |
820 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661204 COSM4164532 CA346754086 RCV000524653 |
820 | R>K | kidney Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001853817 rs1553413812 RCV000569376 CA346754089 |
820 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1406567431 RCV001223757 CA346754091 |
821 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs267608032 RCV000213805 CA10577277 RCV001854758 RCV002429082 |
823 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001284515 RCV001370089 rs1669467621 |
824 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669467747 RCV002451233 RCV001057010 |
825 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039783 rs1669467866 |
825 | I>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA069099 RCV001344059 rs765891603 |
826 | H>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001313382 CA346754156 rs1572727338 |
826 | H>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs765891603 RCV001779130 RCV001360443 RCV001184868 |
826 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541502 rs1553413826 RCV001178553 |
827 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490886 RCV000483224 rs878853716 RCV000986722 CA10582063 RCV000231716 |
827 | N>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558665569 CA346754165 RCV000708876 |
827 | N>T | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754675891 CA069113 RCV001015708 |
828 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587781349 RCV000226891 CA010298 RCV001140447 RCV000129131 |
828 | V>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806430 rs587781349 CA346754178 |
828 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000581544 CA346754194 rs1553413832 |
829 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299218 CA346754199 RCV001015677 rs1572727368 |
830 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001236889 rs1669469593 |
830 | S>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413844 RCV000562480 |
831 | P>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010306 RCV000759133 RCV002514328 rs267608053 |
831 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002427067 CA346754216 RCV000822647 rs1558665602 |
831 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754210 rs267608053 RCV001304266 |
831 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001306084 rs267608053 |
831 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1396036269 RCV001342822 |
832 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343051 RCV001806134 rs1057521330 |
832 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669470783 RCV002559766 RCV001179451 |
833 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752544046 RCV000461932 CA069123 RCV003129813 RCV000217167 RCV000985833 RCV002247652 |
834 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001296963 rs1669471280 |
834 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795465 CA346754250 rs752544046 RCV002424818 |
834 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000487254 RCV001213007 rs1064794164 |
835 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003141805 RCV001354871 RCV001015780 RCV000804861 rs1572727440 |
835 | Q>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010314 RCV001731360 RCV000520652 RCV000074750 rs63751321 RCV000218020 RCV001223542 |
835 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001357594 CA10578107 rs63751321 RCV001054142 RCV000217507 |
835 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001052789 rs863224328 RCV000985834 RCV001354807 CA346754267 |
835 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777593472 CA346754287 RCV001061410 RCV001015766 |
837 | H>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669472143 RCV001325273 |
837 | H>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010333 RCV001193702 RCV000412127 RCV000115392 RCV000195931 RCV000212667 rs587779925 RCV001354925 |
837 | H>Q | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069131 RCV001179709 RCV000460378 rs777593472 |
837 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069137 RCV000801281 RCV001015741 rs770952730 |
838 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770952730 RCV001181958 |
838 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346754328 rs1553413868 RCV000765688 RCV000554932 RCV002431517 |
839 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413868 RCV000629854 RCV001015748 CA346754333 |
839 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224624 RCV001362527 RCV001556556 RCV000197875 RCV000663287 RCV000491269 CA337515 |
840 | S>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553413873 RCV000563110 CA346754361 |
840 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490891 RCV000792632 rs1114167771 RCV001577699 |
841 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669474025 RCV001054001 |
841 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220185 RCV001303343 CA10577278 RCV000217279 rs876660180 |
842 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001855998 RCV000771516 CA069145 rs746143003 |
842 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002529102 RCV000580250 rs746143003 CA346754397 |
842 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002431930 RCV001326060 rs876660180 |
842 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572102 RCV001230415 CA346754435 rs1553413880 |
843 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775812 rs1060502922 CA16611151 RCV000584043 RCV000471414 |
843 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA010359 RCV001850294 rs786201873 RCV000164373 |
844 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1206693577 RCV000564615 CA346754448 |
844 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1064794190 RCV000587978 RCV001015795 RCV001062413 CA16617675 |
845 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000530811 RCV000410929 rs587779241 RCV000074751 TCGA novel RCV001015798 |
846 | E>* | Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
RCV000543433 RCV002431518 rs1553413887 CA346754531 RCV001824816 |
847 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA069160 rs749648487 RCV001179710 |
847 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA069151 RCV000798373 rs775625082 |
847 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346754546 RCV000696400 rs1558665776 |
849 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754549 RCV001184581 rs1328434414 |
849 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA658655654 rs1553413897 RCV000573196 |
850 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003168831 RCV000166285 CA010381 RCV000469257 RCV000566681 rs374230313 CA16611011 |
850 | Y>* | Gastric cancer Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
VAR_012963 RCV002426626 rs63750389 CA010371 RCV000821375 |
850 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH5 and CRC; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000690918 rs1558665790 RCV002424618 CA346754558 |
850 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754563 RCV001015923 RCV001030496 rs63750389 |
850 | Y>S | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001210192 rs1669478924 |
851 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA069172 RCV001775976 RCV002298748 RCV000704606 rs762352116 RCV001015904 |
851 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346754621 rs1572727626 RCV001015950 |
852 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754603 RCV000491145 RCV000705526 RCV000759134 rs1114167796 |
852 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765873566 RCV000568658 RCV000687461 CA346754639 TCGA novel |
853 | K>N | Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780673 CA010405 RCV000122958 RCV001284519 RCV001355264 RCV001193127 RCV000214497 |
854 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000121574 RCV000129191 RCV000764424 RCV003149719 VAR_043961 rs34374438 RCV000148652 RCV001093694 RCV001083699 RCV000585210 RCV000986723 CA010423 RCV001353909 |
854 | K>M | Carcinoma of colon Breast and/or ovarian cancer Colorectal cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000132477 RCV000656896 RCV001249963 rs587782858 RCV000226221 RCV000202234 |
854 | K>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660999 RCV001762506 RCV000218952 |
854 | K>missing | Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000276074 CA10582064 RCV000229277 CA069186 RCV002256216 rs759048538 RCV001372750 RCV000630372 |
854 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000483946 CA16617676 rs1064793456 RCV001856824 |
855 | I>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669481204 RCV001293484 |
856 | I>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765012437 RCV000580274 CA069195 |
856 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000478314 CA16617677 rs1064794084 RCV001185053 RCV000688823 |
856 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074755 RCV001646995 RCV001353485 rs587779243 RCV002272050 RCV002426627 |
857 | D>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236954 rs758176077 |
857 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758176077 CA069204 RCV002424917 RCV000814142 |
857 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001015979 rs368437140 CA346754718 |
857 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA069199 rs368437140 RCV001297702 RCV000233195 RCV000568833 |
857 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1669483230 RCV001179915 RCV001875956 |
859 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177477 rs1669483754 |
859 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413924 RCV000581116 RCV000818454 CA346754761 |
859 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001371208 CA346754780 rs370412074 RCV000579759 |
860 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000693101 CA010453 RCV000164156 RCV000478111 rs370412074 |
860 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1669484357 RCV001237863 |
861 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553413929 RCV000537184 CA346754798 |
861 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016011 rs1187393388 CA346754804 |
862 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001036014 rs1553413932 RCV002427482 |
862 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346754817 RCV000580351 rs1553413932 RCV001853882 |
862 | L>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754809 RCV001016012 RCV001067243 rs1187393388 |
862 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10578108 RCV000630101 RCV000215630 rs876658238 RCV000761188 |
863 | E>G | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA010461 rs587781306 RCV000557524 RCV000129021 |
864 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066036 RCV002451284 rs1669485106 |
864 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA069223 RCV000206562 CA350585 rs757202837 |
865 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558665927 RCV000807112 CA346754871 |
865 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669485434 RCV001047624 |
865 | F>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346754874 rs1558665927 RCV000704423 |
865 | F>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629749 rs1553413941 RCV000568107 CA346754894 |
866 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475289 RCV001805075 CA16610944 rs190075874 |
866 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346754906 rs1572727770 RCV000804513 |
866 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346754902 RCV001015899 RCV000550613 rs190075874 |
866 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000759136 rs190075874 RCV000222631 RCV003137607 CA010469 RCV000479488 RCV000524146 RCV000662498 |
866 | K>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139598980 RCV000524147 RCV000222583 CA010487 RCV000238642 RCV000130173 |
867 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000526734 rs745954217 CA069233 RCV000567854 |
867 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572727797 RCV000794774 RCV003166121 |
868 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669486855 RCV001064448 RCV003160528 |
868 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588628 rs749508276 CA069280 RCV000692110 RCV000570721 RCV001821659 |
868 | M>I | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1669486642 RCV001325153 |
868 | M>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771517 CA069266 rs780280765 RCV001798840 RCV002289613 RCV000464988 |
868 | M>T | Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000540148 rs768941857 CA346754955 RCV001016041 |
869 | C>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768941857 CA069286 RCV001069555 RCV002429738 |
869 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1310418564 RCV001300624 RCV002437019 CA346754970 |
870 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1342190653 RCV001341999 CA346754979 RCV001188061 |
870 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001035709 rs1669487701 |
871 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572727849 RCV001217997 |
871 | I>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016100 rs1572727849 CA346754987 RCV000819269 |
871 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074768 RCV002433571 rs63750357 RCV002223186 |
872 | I>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755003 RCV000568073 RCV000629903 rs1064793342 |
872 | I>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000567884 RCV000552497 CA16617678 RCV000487290 rs1064793342 |
872 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16611154 RCV000759137 RCV000470821 RCV000491946 rs1060502939 |
872 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167749 RCV000491765 |
873 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777001 CA346755023 rs1558666012 |
874 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010617 RCV000205577 RCV002271437 rs774774596 RCV000662485 RCV001580460 RCV000164528 |
875 | M>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249981 rs730881797 |
877 | E>* | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610915 rs1060502873 RCV002230404 RCV002429524 |
877 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881797 RCV000986724 RCV000580634 RCV000708877 CA010628 RCV000533174 RCV000160682 |
877 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000121581 RCV002490347 rs2020912 RCV001353988 RCV000148644 CA010638 RCV000034495 RCV000030264 VAR_012964 RCV000009486 RCV000157763 RCV001269491 RCV001080582 RCV001797998 |
878 | V>A | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Colorectal / endometrial cancer Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome LYNCH5, CRC and ENDMC; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2020912 RCV000630141 CA010648 RCV001778700 RCV000587077 RCV000584072 |
878 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001207836 rs1669490068 |
878 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558666061 CA346755094 RCV000758669 |
879 | A>D | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708878 rs1252374906 |
880 | D>K | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572727935 RCV001016159 CA346755108 |
880 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130652 RCV000074770 RCV000411650 rs63751408 RCV000657069 |
881 | G>KS | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076356 | 881 | G>KS | LYNCH5; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes | UniProt |
|
rs998186339 CA46711385 RCV000986725 |
881 | G>S | Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001216887 rs1669491241 RCV002429924 |
881 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660630 RCV000229744 CA10578109 RCV000217977 |
882 | F>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053044 rs1669491751 |
883 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764816440 RCV000484043 RCV000553546 CA069399 RCV001016203 |
883 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000694383 rs561217424 RCV000218914 CA10578110 |
884 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346755164 rs561217424 RCV000491716 RCV001238310 |
884 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000578967 RCV000131937 rs587782593 RCV001046832 CA010661 |
885 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782593 RCV000529411 RCV000581939 RCV001000818 CA346755166 |
885 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629726 CA346755177 rs1553413977 RCV002457983 |
885 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782593 CA346755168 RCV000815021 RCV000777405 |
885 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167703 RCV000491891 |
886 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201051 CA346755190 RCV000776769 |
886 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001854278 VAR_014902 RCV001016227 rs2020914 CA010670 |
886 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001040859 rs1423320900 |
887 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853558 RCV000214381 rs876659363 |
887 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558666142 CA346755201 RCV000758670 |
887 | L>P | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558666142 RCV000813700 CA346755202 |
887 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1423320900 CA346755196 RCV001177049 RCV000629844 |
887 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669493890 RCV001070767 |
888 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572728039 RCV001860820 RCV001016149 CA346755207 |
888 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881798 CA010696 RCV001142302 RCV000160683 RCV000759138 RCV000205971 RCV000781587 |
888 | K>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346755210 RCV000774809 rs1558666165 RCV001775995 |
888 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708612 CA346755221 rs1558666177 |
889 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410628 RCV001080247 CA010704 RCV000708879 rs149945495 RCV000034496 RCV000235185 RCV000115393 |
889 | Q>H | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126796 CA069406 rs377542011 RCV001016153 RCV000558846 |
889 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167741 CA346755240 RCV000491594 RCV001775831 RCV000629880 |
890 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002508928 RCV002478792 RCV000507745 CA10578112 rs786202628 RCV000222312 RCV000818639 |
890 | V>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000820104 CA346755234 RCV003169006 rs786202628 |
890 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002516483 RCV000165532 rs786202628 CA010714 |
890 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779244 RCV000074773 |
891 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146006741 RCV001016279 RCV000473265 RCV000215122 CA069419 |
891 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001525053 RCV000797834 rs1572728123 CA346755259 |
892 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669495972 RCV001181473 RCV001224780 |
892 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003128163 rs1572728112 RCV001249987 RCV001016284 RCV001354264 RCV001058469 |
893 | L>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230122 CA16611155 rs370754319 |
893 | L>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000506119 RCV001179711 CA069423 rs370754319 RCV000794150 |
893 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002433946 rs878853718 RCV000232801 CA10582065 |
894 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352504 rs1669496676 RCV001762609 |
894 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA069436 RCV002487680 RCV000799261 rs780081278 |
895 | T>R | Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000490914 rs1114167799 CA346755286 |
895 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002529103 rs1553414015 CA346755290 RCV000580099 |
896 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044763 RCV000216879 CA10578113 rs876658369 |
896 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669498074 RCV001201268 |
897 | N>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414010 RCV001016324 RCV000503246 RCV001192426 RCV000696931 RCV000483177 |
897 | N>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662902 rs1553414029 |
897 | N>* | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484487 CA16617680 RCV000775790 rs1064794771 RCV000705957 RCV002465685 |
897 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553414022 RCV000542805 |
898 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661281 RCV001375486 RCV000708880 RCV000588498 RCV000530480 RCV000563804 CA10577281 |
898 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346755302 RCV000629944 RCV000491816 rs1114167700 |
898 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054323 CA069457 rs748574765 |
899 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA010754 RCV000456613 RCV001775649 RCV000166149 rs772514245 |
901 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000566629 RCV001036570 rs772514245 CA346755320 |
901 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA010764 RCV000559913 RCV000570122 RCV001561918 rs63749889 VAR_043962 |
901 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms CRC and ENDMC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000217860 RCV000693978 CA069480 RCV000210111 RCV002469072 rs772514245 |
901 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669499938 RCV002437041 RCV001306118 |
902 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755327 RCV000579581 rs1553414039 |
902 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798800 CA346755326 rs1553414039 |
902 | F>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610917 RCV002230116 rs1060502919 |
903 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374401174 CA346755341 RCV000535809 RCV000583327 RCV000115394 CA010773 |
904 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs1553414049 RCV000571727 CA346755339 RCV002298683 |
904 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1379402512 RCV001212305 |
904 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1379402512 RCV001178515 |
904 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010781 RCV000074775 rs587779245 |
905 | L>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216252 CA069511 rs747486855 RCV001016382 |
905 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669502158 RCV001249985 |
906 | T>* | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755352 RCV001016390 rs1436232875 |
906 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1436232875 RCV000695435 CA346755351 RCV000580164 |
906 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63750904 RCV001284520 RCV002514329 RCV000074776 RCV002426628 |
907 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201936512 RCV001204416 CA069530 |
907 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000693660 rs1558666445 CA346755353 |
907 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558666445 RCV001188257 |
907 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886056144 CA346755358 COSM1021280 RCV000845243 RCV002427089 |
908 | E>* | Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA346755362 RCV000580775 rs1553414065 |
908 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10615763 rs886056144 RCV000691572 RCV000333526 |
908 | E>K | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs969521586 RCV000700057 RCV000575095 CA46712047 |
909 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs969521586 RCV000579720 CA346755368 |
909 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346755377 RCV002245056 RCV001016422 rs773837927 RCV000629915 |
910 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001876130 rs1669503562 RCV001184185 |
910 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148645 rs63751017 RCV000129807 RCV003162471 RCV000202017 RCV002271398 RCV001353531 RCV001554337 RCV000524149 RCV000074777 RCV000411710 CA010815 RCV002477210 |
911 | R>* | Carcinoma of colon Breast carcinoma Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Gastric cancer Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000479114 RCV000817024 rs761622304 CA069561 |
911 | R>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346755379 RCV000563724 RCV002528144 rs761622304 |
911 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000708881 rs761622304 RCV000566003 CA069556 RCV000560703 RCV001558112 |
911 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000771632 RCV000985836 CA16610918 rs1060502876 RCV000470184 |
912 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549439 CA346755386 rs1572728472 RCV001016441 |
912 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572728472 RCV001210599 |
912 | W>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985835 CA16610945 rs1060502869 RCV000759140 COSM575513 CA346755380 RCV002230099 RCV002549655 |
912 | W>R | Variant assessed as Somatic; impact. lung Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001223295 rs750404946 CA069569 |
913 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000816242 rs1553414092 RCV002476369 RCV000612966 |
914 | T>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536613 rs1553414094 RCV002438282 CA346755398 RCV002289716 |
914 | T>I | Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 3 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553414094 CA346755397 RCV001349194 RCV000563428 |
914 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230414 rs766427609 RCV002436446 CA069576 |
915 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000561147 RCV000590239 RCV000793228 CA346755403 rs766427609 |
915 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558666565 CA346755402 RCV000758671 |
915 | A>S | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558666565 RCV000758672 RCV002533820 CA346755400 RCV002440585 |
915 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766427609 RCV001229127 RCV002436888 |
915 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215105 RCV001284522 rs1669506824 |
917 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414102 RCV000629914 |
917 | D>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669506919 RCV001055836 |
917 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189578 rs1558666591 |
918 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754948438 RCV001071302 RCV000774604 RCV000480774 CA069591 |
918 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346755422 RCV000734437 RCV000986726 RCV000708882 RCV001047029 rs1558666591 RCV001016502 |
918 | H>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460470 CA16611013 rs866493167 RCV002255396 |
919 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669507683 RCV001246161 |
919 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414110 RCV000549264 RCV002438283 CA346755427 |
919 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003128158 RCV002466258 RCV000491468 rs1114167794 RCV001385943 |
920 | K>missing | Uterine corpus cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414113 CA346755440 RCV000525387 |
920 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167794 RCV000821632 |
921 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780483 RCV001775813 RCV000571747 RCV000473774 CA16610946 rs1060502936 |
921 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779247 RCV000074780 |
922 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010831 RCV000491845 RCV001056241 RCV002267828 RCV003162472 RCV002281907 rs587779246 RCV001262897 COSM1645446 RCV001357595 RCV000074779 |
922 | R>* | Carcinoma of colon Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 breast Gastric cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA069598 RCV000487150 rs752839086 RCV000563123 COSM190064 RCV000791412 RCV001192425 RCV000461564 |
922 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome stomach Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000686361 CA346755451 rs1558666660 |
923 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574967 rs1553414124 CA346755454 RCV001853720 RCV001356005 |
923 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854279 RCV000074781 RCV002433572 rs267608063 |
924 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244090 RCV001546950 rs1553414130 RCV000562102 CA346755460 |
924 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805703 RCV003166251 CA346755462 rs1553414130 |
924 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218606 rs758873844 RCV000486781 RCV000629928 CA069606 |
924 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553414131 RCV002438284 RCV000542367 |
925 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205831 RCV000212670 RCV000129055 CA010886 rs587781318 |
926 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002230423 CA16611157 rs1060502948 |
926 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002437006 rs1060502948 RCV001295449 |
926 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270948 rs587782277 RCV000218611 RCV000131134 RCV001237131 |
927 | I>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771575217 CA10582066 RCV000571017 RCV000234379 |
927 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000115395 RCV001253566 rs587779926 RCV000587183 RCV000206053 CA010911 RCV000212671 |
927 | I>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000562226 RCV001564504 RCV001048708 rs1057519255 RCV000415629 CA16043990 |
928 | T>A | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781482454 CA069631 RCV002438802 RCV001346413 |
928 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001016596 rs781482454 RCV000630100 RCV001756039 RCV002465740 CA069625 |
928 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553414139 RCV000629961 CA346755500 |
929 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553414143 RCV000584362 CA346755514 |
929 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346755502 RCV000630136 rs1553414139 |
929 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853719 RCV000227322 RCV001016608 CA10582067 |
930 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572728711 CA346755531 RCV000808619 |
930 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346755518 RCV000538718 rs878853719 RCV000572514 |
930 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853720 CA10582068 RCV003165594 RCV001314385 RCV000231208 |
930 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1445671236 CA346755537 RCV000570124 |
931 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs927587365 RCV000776602 CA46712134 |
931 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA010919 rs786203914 RCV000167426 |
932 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001249975 rs1553414155 CA346755563 RCV000582221 RCV001327613 |
933 | F>L | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491578 rs878853721 RCV000233999 |
934 | D>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204534 rs1669512732 |
934 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414162 RCV002528143 RCV000563475 CA346755599 |
935 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002258164 rs1669512980 RCV001220500 |
935 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225403 RCV000491348 RCV000202273 |
936 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218854 rs876659189 RCV002515625 |
936 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659189 RCV000657831 RCV002524136 RCV001016632 |
936 | D>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010934 RCV002515161 rs771925410 RCV000166282 RCV001524726 RCV001324741 |
936 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000708718 rs876659904 CA346755605 |
936 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659904 CA10578119 RCV000220173 |
936 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346755627 RCV001016659 rs1572728785 |
937 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210150 rs1572728780 RCV001016655 CA346755624 |
937 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491193 rs1114167757 |
938 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438641 CA346755629 RCV000630002 rs1553414175 |
938 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491935 RCV000074783 COSM26722 rs63750140 CA010943 |
939 | Q>* | Hereditary cancer-predisposing syndrome skin Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1553414180 RCV000776535 CA346755652 |
939 | Q>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA069657 RCV000460082 RCV000580547 rs772978164 |
940 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491455 rs1114167730 CA346755671 |
941 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016701 rs760406178 RCV001209813 CA069672 |
942 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000584718 rs760406178 CA346755692 |
942 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779249 RCV002435024 |
942 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143520357 RCV001875873 RCV001178013 |
943 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA010974 RCV000212672 RCV000412088 rs143520357 RCV001356309 RCV000205918 RCV000131640 |
943 | D>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000663331 RCV000160743 rs730881827 RCV000254666 RCV000464722 |
944 | I>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581651 rs878853723 COSM1021282 RCV001589169 RCV000231932 RCV000571874 CA10582071 |
944 | I>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000629861 rs1553414199 |
945 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755759 RCV000785377 RCV001249979 RCV002440619 COSM13393 rs1558666905 |
946 | E>* | Lynch-like syndrome large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Neoplasm of ovary [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001247282 rs1669516579 |
946 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel RCV002434052 rs1572728898 CA346755807 RCV000856619 |
948 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV000692805 CA346755821 rs1558666921 |
948 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016756 rs1572728922 |
949 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853724 RCV000566894 CA10582072 RCV002225527 RCV000234719 |
949 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184458 rs1669517595 |
949 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657464 RCV000223263 RCV000210152 rs869312770 RCV001063007 |
950 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215894 rs1669517990 |
950 | S>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773710 CA346755860 rs571394629 |
950 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000074785 RCV001269714 rs63750940 |
951 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565572 rs759708484 CA069700 |
951 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA011015 RCV000129947 RCV000629697 RCV000502711 RCV001582602 rs587781743 |
952 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10578122 RCV002515668 RCV000213233 rs876659713 |
953 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000781579 RCV000555735 rs753034685 CA069715 RCV000213285 RCV000485366 RCV001355880 |
953 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16610927 RCV002230126 rs753034685 |
953 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002523979 rs1114167714 RCV000508057 RCV000491229 |
954 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001381214 rs1064793671 RCV002436530 RCV000480127 CA16617684 |
954 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209737 rs1669520283 |
954 | Y>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755943 RCV000630044 RCV001016818 rs1401779172 |
955 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA46712305 RCV000575785 rs935578138 |
956 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346755960 RCV000693276 rs935578138 RCV002440462 |
956 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10577280 RCV001854759 rs876661255 RCV000218550 |
957 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185418 rs1669521356 |
957 | K>RK | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414239 RCV000590828 RCV002438531 |
958 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821344 rs1572729033 |
958 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755990 RCV000583331 rs1553414236 RCV000697683 |
958 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440712 RCV000805385 rs1572729044 |
958 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346755996 RCV001016866 rs876660185 |
958 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578123 rs876660185 RCV000215234 |
958 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011024 RCV001526922 RCV000214010 RCV000165958 rs751973865 RCV000473325 |
959 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000165726 COSM1021285 RCV001840209 RCV000758673 rs757653982 RCV000204562 RCV000506421 CA011033 RCV000662759 |
959 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757653982 RCV001212823 |
959 | R>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751973865 RCV001863060 RCV001193698 |
959 | R>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525767 rs746341645 RCV001181941 RCV000484002 CA069746 |
960 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA011048 COSM1215571 rs587781458 RCV000129393 |
961 | R>I | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539358 RCV000223015 rs587781458 CA069753 |
961 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221971 CA069765 rs747856982 RCV000572892 |
962 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069760 RCV000629885 RCV001355686 RCV001374579 RCV000561841 rs778287080 RCV001764641 |
962 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346756039 rs1572729104 RCV001016853 |
962 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756072 RCV000986727 rs1482228994 |
964 | C>* | Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071244 rs1669523927 |
964 | C>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062993 rs1669524222 RCV001806008 |
965 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772875 RCV001856032 rs1558667093 CA346756085 |
965 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532698 rs1553414252 RCV002438285 CA346756080 |
965 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176902 rs1183568138 |
966 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016842 CA346756094 rs1183568138 RCV002550823 |
966 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1572729155 CA915943938 RCV001016915 |
967 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657064 RCV000461768 rs876661067 RCV003153515 CA10577283 RCV000573070 RCV000214691 |
967 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572729161 RCV001860846 RCV001016893 |
968 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167441 rs786203924 RCV001589044 RCV000707705 |
969 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63749919 RCV002467444 RCV000458194 RCV000623975 RCV000218181 RCV003165582 CA069803 RCV000491101 |
969 | Y>C | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Gastric cancer Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002288628 rs63749919 RCV000410024 CA011081 RCV000129763 RCV000204094 |
969 | Y>F | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346756128 rs1348956744 RCV000499958 RCV001857067 |
969 | Y>H | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA011072 RCV000552775 rs63749919 RCV002433573 |
969 | Y>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000657724 rs765411990 RCV003114616 CA346756153 RCV000491637 |
970 | W>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001016938 CA069814 RCV003153635 rs765411990 |
970 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346756140 RCV001211457 rs1410870321 |
970 | W>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346756162 rs1572729225 RCV001016942 |
971 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436556 rs1054003194 RCV001041997 |
971 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490910 rs1054003194 RCV000581318 RCV000791986 |
972 | I>missing | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346756176 rs1558667196 RCV000689348 |
973 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558667222 RCV000689094 |
974 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570371 RCV000811940 rs775407589 RCV000679229 CA069819 |
974 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000565907 rs1553414294 CA346756184 RCV001044004 |
975 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017514 rs139026662 CA346756190 |
975 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001355155 RCV000630013 CA011096 RCV000212673 rs587782386 RCV000131393 RCV001818325 |
976 | R>C | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_012965 RCV000629775 RCV002273954 COSM1021289 RCV000455514 rs63751113 RCV000218618 CA011105 |
976 | R>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms CRC; sporadic; unknown pathological significance; normal mismatch repair activity [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000630118 RCV000491868 RCV000074788 RCV001008655 RCV002514330 CA346756202 rs63750111 RCV001804805 RCV000561109 CA011115 |
977 | Y>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669529094 RCV001261439 |
977 | Y>* | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222223 rs1669528965 |
977 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011127 RCV000202022 rs587781372 RCV000129185 RCV001849919 |
978 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781372 CA10582073 RCV000229215 RCV000563221 |
978 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553414312 RCV000569275 CA346756204 |
978 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438211 CA346756212 rs1218426245 COSM3746543 RCV000502849 |
979 | L>P | Carcinoma of colon liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
COSM289293 CA346756210 rs1356451622 RCV000776701 |
979 | L>V | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1669530348 RCV001349568 |
981 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160684 RCV000469541 CA011143 rs730881799 RCV000565911 RCV002247557 |
981 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587779250 RCV000074789 RCV000490869 |
982 | P>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553414320 RCV000629786 CA346756228 RCV000575990 |
982 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA069854 RCV000573654 RCV001350778 rs780485157 RCV000499422 |
983 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA069848 RCV001017623 RCV001873299 rs538761360 |
983 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA16617685 rs146359682 RCV000574429 RCV000483801 RCV000546084 |
984 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000759855 RCV001375566 rs146359682 RCV000206584 RCV000662779 CA011176 RCV000524150 RCV000166094 |
984 | N>H | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065087 rs587779927 |
984 | N>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017633 rs587779927 CA011183 RCV000204834 RCV000115396 RCV000409319 |
984 | N>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002529104 CA346756239 rs146359682 RCV000580431 |
984 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1572729394 CA346756249 RCV000800970 |
985 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011192 rs63750942 RCV001055550 RCV000774605 |
985 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756246 RCV001059345 rs1258152646 RCV002436634 |
985 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000781600 RCV001548505 CA346756256 rs1553414327 RCV000630222 RCV000572065 |
986 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869107 rs1558667371 RCV000775860 CA346756261 |
986 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166654 RCV000767216 RCV000214752 RCV000764425 RCV000662610 rs746631156 RCV000198691 CA011202 |
987 | T>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011210 rs587779928 RCV000115397 RCV001731378 RCV000558179 RCV000221869 RCV000662547 |
987 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs746631156 RCV000810264 CA346756267 |
987 | T>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16617686 RCV001856850 RCV002436542 RCV002307516 rs587779928 RCV000481436 |
987 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669532554 RCV001215598 RCV001780134 |
988 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483401 CA069873 rs61753795 RCV000571603 RCV000232002 RCV002265702 |
988 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000815085 rs61753795 CA346756279 |
988 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs115386788 CA069876 RCV000566696 RCV000534216 RCV000214813 RCV001354499 |
988 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000465720 RCV000589846 rs115386788 RCV000708883 RCV000223636 CA069886 |
988 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs115386788 CA069882 RCV002230416 RCV002436447 |
988 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001017673 rs61753795 CA346756276 |
988 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000129802 rs587781659 |
989 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669533426 RCV001183385 RCV001876098 |
989 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763146296 CA069893 RCV000456831 RCV001017693 |
989 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001268129 RCV002436987 rs1669533825 |
990 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017699 CA346756310 rs1178799836 |
990 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs764249869 RCV000167467 CA011230 |
991 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000581003 RCV000479244 rs375966384 CA16617687 RCV000546977 |
991 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000219717 CA10578124 RCV000792117 rs876660688 |
992 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000464929 rs774755404 CA069899 RCV000478635 RCV000222273 |
992 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000074791 rs587779251 |
993 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507674 RCV001183217 RCV000699493 rs370462886 CA346756355 |
993 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000773434 rs1558667523 CA346756349 |
993 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803777 CA346756362 RCV002440701 rs367758473 |
994 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373622047 RCV001257232 |
994 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63749938 RCV000074794 |
995 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074793 rs63750258 CA011274 RCV001269505 RCV001062414 RCV000491673 RCV001804806 |
995 | E>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63750258 RCV000218455 CA10578125 RCV000467310 |
995 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001056457 RCV001293522 CA346756363 rs63750258 RCV000563188 |
995 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1572729560 RCV001017789 CA346756366 |
995 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000472587 rs1060502890 RCV001017825 |
997 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617688 RCV002436544 rs1064794943 RCV001037717 RCV000478571 |
997 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000501876 RCV002438212 rs1064794943 CA346756377 |
997 | K>E | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572729601 CA346756380 RCV001017824 |
997 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000122959 CA011298 rs587780674 RCV000491404 |
997 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756385 RCV000562916 rs1281207200 RCV000547617 |
998 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000562670 CA346756386 rs1281207200 RCV001228191 |
998 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs730881800 RCV000688534 CA346756382 |
998 | S>P | Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011310 RCV001762354 RCV000662434 RCV000160685 rs730881800 RCV000168112 RCV000579908 |
998 | S>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1669537777 RCV001248229 |
1001 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659485 RCV000221743 CA10578127 RCV000689157 |
1001 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011330 rs587782491 RCV000131619 |
1002 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756408 rs1064794070 RCV000798554 |
1002 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702463 rs1558667696 RCV003165881 CA346756413 |
1003 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558667702 RCV000758674 CA346756417 |
1004 | K>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808924 RCV000202164 RCV000624966 RCV000491215 rs63750563 RCV000074795 CA011340 RCV001263506 |
1005 | R>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002490940 CA346756426 RCV000536357 rs587782324 RCV001805147 |
1005 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011349 RCV000131231 RCV000764426 rs587782324 RCV001290553 RCV001060704 |
1005 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000491350 rs587782862 |
1006 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438637 RCV000694583 CA346756434 RCV001541581 RCV002440471 CA346756433 rs1553414395 RCV000629667 RCV000708884 RCV000986728 |
1006 | Y>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178401 rs1669539415 |
1007 | W>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440757 CA346756440 RCV000811578 rs587779253 |
1007 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000202503 RCV002433574 RCV000074796 rs587779252 RCV000009493 CA011367 |
1007 | W>* | Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 3 Lynch syndrome 5 Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630051 CA346756437 rs1553414398 |
1007 | W>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580511 CA346756436 RCV000708885 RCV001060489 rs1553414398 |
1007 | W>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558667779 COSM26723 CA346756446 RCV000689536 RCV001018123 |
1008 | T>I | Hereditary cancer-predisposing syndrome skin Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA011400 RCV000129648 RCV000459156 rs587781593 RCV001354619 RCV000480608 |
1009 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346756451 RCV000688027 rs587781593 |
1009 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491098 rs1114167773 RCV001230938 |
1010 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570481 CA069975 RCV001327550 RCV000758675 rs768925694 |
1010 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553414407 RCV001233423 RCV000573950 CA346756455 |
1010 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221506 RCV000565431 RCV001551755 CA346756458 rs768925694 RCV002465720 |
1010 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000823277 CA346756465 rs1572729809 |
1011 | I>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756463 RCV001325223 RCV002438744 rs1387534158 |
1011 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000574263 rs1553414415 CA346756459 RCV001067928 |
1011 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572729816 CA346756466 RCV001018219 |
1012 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782712 RCV003155083 RCV001355368 RCV000200490 RCV000202303 RCV000132188 |
1013 | K>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346756479 RCV000462176 CA16611159 RCV000567315 rs1060502920 RCV001018229 COSM1021291 RCV001249961 |
1013 | K>N | Lynch-like syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs200837944 CA346756477 RCV001236555 RCV001018224 |
1013 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852695 rs200837944 CA011420 RCV000034497 |
1013 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001876046 rs774560892 RCV001181942 CA069986 |
1014 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000759857 RCV000491707 RCV001290595 RCV000524151 rs267608073 RCV000409973 |
1014 | K>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761894928 CA069991 RCV000814377 |
1015 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346756488 rs1572729847 RCV000797463 |
1015 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560977 rs1553414421 CA346756493 |
1016 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115398 CA011448 rs587779929 RCV000766282 RCV001236480 RCV002444566 |
1016 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001526136 rs1060502943 RCV001192485 RCV001238327 |
1017 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610948 RCV002230421 rs1060502943 |
1017 | N>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502943 RCV001213113 |
1017 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074799 RCV001018330 RCV000009489 RCV002514331 rs63751407 |
1018 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346756506 RCV000582345 rs878853727 |
1018 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582075 rs878853727 RCV001804963 RCV000232754 |
1018 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167726 CA346756509 RCV000490926 |
1018 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049436 CA346756512 rs1438943270 |
1019 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346756518 rs1553414438 RCV002534112 RCV000774064 |
1020 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220380 RCV000571326 rs1553414438 CA346756517 |
1020 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669544206 RCV001303152 |
1020 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_043963 CA011474 rs63750287 |
1021 | A>D | CRC; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs63750287 RCV000706203 RCV000565319 RCV000767078 CA070000 RCV000480054 |
1021 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491094 CA346756531 RCV000697041 rs1114167724 |
1022 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074801 CA011483 rs267608059 RCV000687014 RCV000491450 |
1023 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553414454 RCV000630223 CA346756539 |
1023 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018464 rs372705506 CA346756545 |
1024 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372705506 CA346756546 RCV001018463 RCV000811273 |
1024 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000475900 RCV000212674 RCV000411475 rs372705506 RCV000766283 CA011493 COSM1408307 RCV000160686 |
1024 | R>Q | large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000985838 RCV000227649 COSM35443 CA10582076 RCV002494619 rs370505117 RCV000491202 |
1024 | R>W | Variant assessed as Somatic; 4.729e-05 impact. Hereditary cancer-predisposing syndrome central_nervous_system Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002298832 rs1287554667 CA346756555 RCV001018497 |
1026 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000160687 rs267608054 RCV001237308 CA011499 VAR_067297 |
1026 | D>Y | Hereditary nonpolyposis colorectal neoplasms LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000803390 rs1572730002 RCV002319581 |
1027 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319523 rs1553414471 RCV000554295 RCV000985839 CA346756562 |
1027 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000233497 CA10582078 rs876658397 RCV002319466 RCV001349595 |
1027 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10578129 rs876658397 RCV000503628 RCV001080207 RCV000227272 RCV000216842 |
1027 | V>L | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001018504 rs1572730021 RCV001262330 RCV001766845 |
1028 | S>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794243 rs876660853 CA16617691 RCV000481140 RCV000491967 |
1028 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660853 RCV000217457 CA10578130 RCV000802974 COSM1021293 |
1028 | S>L | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001018530 rs1572730033 RCV001860915 CA346756564 |
1028 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186065 RCV000630017 CA346756571 rs1553414483 |
1029 | L>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325201 rs1553414488 RCV000630229 |
1030 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346756575 RCV001284660 RCV000491165 rs1114167707 RCV001383493 |
1030 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809285 rs1572730065 |
1031 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA46712910 VAR_043964 rs63750804 |
1031 | D>V | CRC; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002325608 RCV000817446 CA346756589 rs1572730085 |
1032 | C>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630200 rs1553414498 |
1033 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865529 RCV000490990 rs751035257 RCV000659893 CA346756599 RCV000521749 |
1033 | M>K | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001054240 CA346756598 rs1553414508 RCV000583319 |
1033 | M>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011544 RCV002321590 rs587779930 RCV000808874 RCV000115399 |
1034 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688425 CA070052 RCV000575225 RCV000759858 rs181727939 |
1034 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000215044 RCV000199786 COSM48575 rs181727939 RCV001194335 CA070049 |
1034 | R>Q | lung Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000410374 rs587779930 RCV000203004 RCV000774606 RCV000219542 RCV000524152 CA070044 RCV003137789 |
1034 | R>W | Xeroderma pigmentosum, group D Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001355855 RCV000524153 RCV000074803 rs63749999 RCV000223452 RCV001194362 RCV000484829 CA011558 RCV002477211 RCV003162473 |
1035 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000160688 RCV000198759 RCV001175452 rs730881801 RCV000223597 CA011566 |
1035 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881801 RCV000797701 CA070069 |
1035 | R>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000759859 RCV002272172 rs730881801 RCV000196222 CA070064 RCV000568269 |
1035 | R>Q | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346756608 rs748211741 RCV001018670 |
1036 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16610949 rs748211741 RCV001753898 RCV000474226 |
1036 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558668117 RCV001223948 |
1036 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630021 rs1553414519 RCV002466553 RCV000781601 RCV001018672 RCV000656573 |
1037 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558668156 RCV000694925 |
1037 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491106 rs1114167751 |
1037 | F>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669550051 RCV001320413 |
1037 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298939 RCV000160689 RCV000129832 RCV000691133 RCV000410297 rs587781673 RCV000221076 RCV000564450 CA011575 CA011584 |
1037 | F>L | Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000818375 CA915943943 rs1572730191 |
1037 | F>LN | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA011594 RCV000410356 RCV002267913 RCV000483409 RCV000165541 rs773357672 RCV000685194 |
1038 | Y>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502947 CA346756615 RCV001018682 RCV001317073 |
1038 | Y>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756618 RCV000772191 rs773357672 |
1038 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502947 CA16611019 RCV001018681 RCV000475586 |
1038 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572730215 RCV001018700 |
1038 | Y>LY | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531248 RCV000486939 RCV001762176 RCV001175453 rs267608042 RCV000074804 RCV000491377 |
1039 | N>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700890 CA346756628 RCV000566542 rs1553414533 |
1039 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561631 rs1553414532 CA346756624 |
1039 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491077 rs1114167781 |
1040 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572730270 CA346756646 RCV001018738 |
1042 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758676 rs1558668218 CA346756651 |
1042 | K>N | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558668226 RCV000701192 RCV002325414 CA346756658 |
1043 | N>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001859140 RCV001190006 rs1669552731 RCV001093450 |
1044 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860925 RCV001018755 CA346756666 rs1553414541 |
1044 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1346694568 CA346756663 RCV001318940 |
1044 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346756661 rs1346694568 RCV000771460 |
1044 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346756664 rs1553414541 RCV000543379 |
1044 | Y>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307802 rs1669552904 |
1045 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558668258 RCV000689670 |
1046 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018783 CA346756683 RCV000629822 rs1244049824 |
1046 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779931 RCV000115400 RCV000630122 CA011619 RCV000216957 |
1046 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167782 RCV000491501 RCV001851342 |
1047 | W>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481351 RCV000491172 CA16617692 rs1064794302 COSM1021295 |
1047 | W>* | Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002322167 RCV001249959 rs1553414554 |
1047 | W>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002323909 CA346756690 RCV000532129 rs1553414554 |
1047 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756684 rs1114167753 RCV000491653 |
1047 | W>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064794302 RCV001369804 RCV000773877 CA346756688 |
1047 | W>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346756685 RCV000565247 rs1114167753 RCV000758677 |
1047 | W>R | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002288592 RCV000490956 RCV000202056 rs200492211 RCV000500240 RCV000544323 CA011628 |
1048 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001339225 rs200492211 CA070092 RCV000200624 RCV000573297 |
1048 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001018792 CA346756694 rs1572730351 RCV002549486 RCV001030497 |
1048 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860927 RCV001018807 CA346756702 rs1395294066 |
1049 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002230104 rs1060502882 |
1050 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346756708 rs1114167732 RCV000491488 |
1050 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572730375 RCV002322065 RCV001220530 |
1050 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572730375 RCV001217152 |
1050 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572730375 RCV001018809 CA346756706 |
1050 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167732 CA346756709 RCV002323910 RCV000556704 |
1050 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1175196087 RCV001355629 RCV001860929 RCV001018833 |
1051 | V>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000408980 RCV001257068 RCV001355067 CA011639 RCV000588824 RCV000132157 RCV001796965 rs576269342 RCV001030498 |
1051 | V>I | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Hereditary breast ovarian cancer syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001284661 RCV001871663 rs1669556009 |
1051 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750833 RCV000115402 RCV000524154 RCV000202199 RCV001263505 RCV000074805 |
1052 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002536576 RCV000759860 CA346756716 rs765763906 |
1052 | E>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA011668 RCV000129593 rs587781568 RCV000705750 RCV001293976 |
1052 | E>G | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002527989 CA346756715 rs765763906 RCV000572391 |
1052 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346756727 RCV000545511 rs767021188 |
1053 | C>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001853925 rs1553414572 RCV000583663 CA346756724 |
1053 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565944 RCV001387836 rs1553414578 |
1054 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608075 RCV000115403 RCV003149720 RCV000074806 CA011675 RCV000586516 RCV000200988 RCV001080837 RCV001262329 RCV000986730 |
1054 | I>F | Breast carcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000569620 CA070144 rs149605979 RCV000795073 |
1054 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA070133 rs267608075 RCV000630191 RCV001018885 |
1054 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000233953 RCV001355483 RCV000657255 RCV001255467 rs878853729 RCV002257529 |
1055 | A>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779254 RCV001216258 RCV000223291 CA011702 RCV000114751 |
1055 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779254 RCV000764427 CA011694 RCV000218375 RCV000627700 RCV000409200 RCV000565213 |
1055 | A>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000582540 rs952911807 RCV001209413 CA46713075 |
1056 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs778741297 RCV001316288 |
1057 | L>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037000 RCV000773385 RCV001797141 CA346757812 rs1558386744 |
1058 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491378 CA279731 RCV001039124 RCV001353871 RCV000501351 RCV000202089 rs863225404 |
1058 | D>H | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1249506770 CA346757816 RCV000534610 |
1059 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346757826 rs1553331248 RCV001039508 RCV000572869 |
1060 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750196 RCV000074814 |
1061 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669730426 RCV001046030 |
1061 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000663144 CA346757829 RCV002271523 RCV000551643 RCV001189640 rs1553331250 |
1061 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325458 rs1558386797 RCV000758678 CA346757836 |
1062 | C>Y | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272245 RCV000491375 RCV002051855 RCV002230108 rs1060502901 CA16610953 RCV000623149 |
1063 | L>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346757842 rs1553331257 RCV000566322 |
1063 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322117 rs587782492 RCV001232311 |
1064 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131620 CA011817 rs587782492 |
1064 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000216009 CA011826 RCV000759861 rs369042519 RCV000691203 |
1064 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1384780420 RCV001269867 RCV002246266 |
1065 | N>missing | Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608085 RCV000074815 |
1065 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001179426 rs1669731638 |
1065 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759260316 RCV002321850 CA070349 RCV000230740 |
1065 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63749821 RCV000540383 RCV000130192 RCV001588984 |
1066 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011852 rs372103816 RCV001560125 RCV000131293 RCV000234661 |
1066 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001381215 rs63749821 RCV000074816 |
1067 | S>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669732743 RCV001224783 |
1067 | S>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881803 RCV000580697 COSM1668899 RCV000707499 CA346757872 |
1067 | S>I | Hereditary cancer-predisposing syndrome prostate Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs730881803 RCV000205900 RCV000160691 RCV000563106 RCV000663010 CA011898 |
1067 | S>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002481459 RCV000471797 rs1064792972 |
1067 | S>missing | Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524156 RCV001249973 RCV003162474 rs63749843 RCV000160692 RCV001353539 RCV000607176 RCV000172816 CA011916 RCV000201960 RCV000074817 RCV001253564 RCV000763497 |
1068 | R>* | Carcinoma of colon Lynch-like syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002321808 rs398123230 RCV000205755 CA349867 RCV000485153 |
1068 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000541306 CA011948 rs398123230 RCV000679235 RCV000131516 |
1068 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000168135 RCV000679234 RCV000131252 CA011934 RCV001356423 RCV001083147 RCV000217757 rs398123230 |
1068 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205270 RCV001019211 rs63750784 CA346757902 |
1069 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63750784 RCV001525068 RCV001346245 CA011957 |
1069 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001354888 RCV000464681 RCV001368829 CA10582082 RCV000483362 rs764113705 RCV000491614 RCV000662364 CA070372 RCV000230347 |
1069 | G>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002325541 RCV000801766 rs1315445200 |
1070 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549501 rs1315445200 RCV001019232 |
1070 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011981 rs587782194 RCV000130846 |
1070 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001019234 RCV000483650 CA070378 RCV000553784 rs751475855 |
1070 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001019229 rs1315445200 |
1071 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517552 RCV002323576 RCV000411508 |
1072 | G>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814199 rs781243845 RCV002267969 RCV000215059 CA10578133 RCV001142304 |
1072 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000758679 RCV001184368 CA346757947 rs1558386938 |
1072 | G>S | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167108 RCV000805949 RCV000213713 CA011990 rs781243845 |
1072 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012014 RCV001209408 rs587779257 RCV000484501 RCV001181943 |
1073 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA011999 RCV000659894 RCV000764428 RCV000202106 RCV001084149 RCV001358558 RCV000074820 RCV000034498 RCV000115406 RCV001762092 rs142254875 RCV001798060 |
1073 | P>S | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041478 rs142254875 |
1073 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608090 RCV002267829 RCV000074822 |
1074 | M>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629986 rs1553331290 RCV000502125 RCV000569022 |
1074 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346757995 RCV001249969 rs1378407358 RCV002447236 |
1074 | M>I | Lynch-like syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000662750 CA10582083 RCV000225977 rs730881804 RCV000480996 RCV000584577 |
1074 | M>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000775731 RCV000462862 rs1060502927 CA16611034 |
1074 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000587626 RCV000562784 rs730881804 RCV000232219 CA012035 |
1074 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1572735072 RCV000803086 |
1075 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553331300 RCV000629679 CA346758005 |
1075 | C>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001356266 RCV000709742 RCV000074823 RCV001564011 RCV000254700 RCV000162445 CA012063 RCV000780464 RCV000524159 rs63750617 VAR_043965 RCV003162475 |
1076 | R>C | Breast carcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Gastric cancer Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC; unknown pathological significance [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000629920 CA070417 RCV000759862 RCV000491655 RCV000504512 rs63750617 |
1076 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000165943 COSM1021297 RCV000588416 rs779617676 RCV000202247 RCV000758680 CA012072 RCV000198283 |
1076 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome endometrium Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10578134 RCV001853591 rs876659824 RCV000215877 |
1077 | P>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003160481 rs1669737200 RCV001059646 |
1077 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376452612 RCV000200854 RCV000121586 RCV000663151 RCV000214188 RCV000590417 CA012103 |
1078 | V>A | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587779932 RCV000662609 RCV000168205 RCV000567226 CA012092 RCV000656897 |
1078 | V>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779933 RCV002444567 RCV000115408 CA012114 |
1079 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000630210 rs587779933 RCV002448931 CA346758064 |
1079 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003165480 rs863225406 RCV000554689 RCV000201961 RCV000582996 RCV000500492 |
1080 | L>missing | Hereditary cancer-predisposing syndrome Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530723 rs1553331337 |
1080 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019393 rs1572735157 |
1081 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001875966 RCV001179997 CA346758104 rs1553331352 |
1081 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758098 rs1553331349 RCV000507251 RCV000776721 |
1081 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115409 RCV001085899 RCV000656898 RCV001093655 CA012135 COSM1408311 RCV000121583 rs191109849 RCV000074824 RCV001358430 RCV002288561 RCV001762177 |
1082 | P>L | Carcinoma of colon large_intestine Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs191109849 RCV001045322 CA346758111 RCV001183346 |
1082 | P>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001186162 rs191109849 |
1082 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000586138 RCV001175358 RCV003153418 RCV000129766 RCV000409325 CA012124 RCV000464994 rs186240214 RCV000515187 |
1082 | P>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs186240214 RCV001306638 |
1082 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480924 RCV001851242 rs1064796068 RCV001176773 CA16617693 |
1083 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669742346 RCV001176160 |
1084 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814813 RCV002483554 CA346758123 RCV000582414 rs1553331364 |
1084 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331360 RCV000571300 CA346758119 |
1084 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002448930 rs1114167705 RCV000630182 RCV000491451 |
1085 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811761 rs1553331366 RCV000562443 |
1085 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002469155 RCV001269969 RCV001019451 RCV000460971 rs1060502891 |
1085 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019450 rs1572735220 |
1085 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553331378 RCV001019452 RCV000657377 |
1085 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761724581 RCV000484206 RCV001303106 RCV001019455 CA16617694 |
1085 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000771637 RCV001243927 CA346758129 rs761724581 |
1085 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1649450 RCV000780482 RCV001525394 rs751563328 |
1085 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs761724581 CA070494 RCV001037784 RCV000479350 RCV001019454 |
1085 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000226723 RCV000662522 rs756108143 CA070509 RCV000482939 RCV000774607 |
1086 | P>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000560746 CA070513 RCV000482150 RCV000570886 rs780345806 |
1086 | P>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001174616 RCV000536806 RCV000562792 RCV000222192 CA10577285 rs780345806 |
1086 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000223078 rs780345806 CA070524 RCV000699366 |
1086 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000630015 CA346758131 rs756108143 RCV000771661 |
1086 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544109 RCV001019457 rs756108143 CA346758130 |
1086 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779258 RCV000074828 |
1087 | P>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128933 RCV000122963 RCV003149837 RCV000587527 RCV001354177 RCV001255217 RCV000411062 CA012231 rs63750998 |
1087 | P>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000168382 RCV000589544 rs63750753 RCV001787917 CA012253 RCV001808341 RCV000115410 RCV001762224 RCV000121584 |
1087 | P>H | Turcot syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000629923 rs63750753 CA012288 RCV000166383 |
1087 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000524164 RCV000074829 VAR_076357 RCV000764430 RCV000586012 RCV003149721 CA012273 RCV000160725 rs63750753 |
1087 | P>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001079820 RCV000212678 RCV000514075 RCV000148653 VAR_067298 RCV000764429 CA012243 RCV000131245 rs63750998 RCV001262368 |
1087 | P>S | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000212679 RCV001137558 RCV003153343 CA012215 RCV000131160 VAR_012966 rs63750998 RCV001083021 |
1087 | P>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer CRC and LYNCH5; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001249971 rs1669747095 |
1088 | F>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35621414 CA346758170 RCV001858114 RCV000565899 |
1088 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16617695 RCV000478043 RCV002526597 rs866793892 RCV002323830 |
1088 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002230115 rs1060502917 |
1088 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524165 RCV003149722 RCV000202045 RCV001762178 RCV001353984 RCV000115411 RCV000009499 RCV000074830 RCV000491666 RCV002504982 RCV000074831 RCV000078312 rs267608078 RCV003162477 RCV002498358 RCV003128137 RCV001249957 RCV000410401 RCV003162476 RCV001824596 RCV000524166 RCV001249970 RCV000115412 |
1088 | F>missing | Carcinoma of colon Mismatch repair cancer syndrome 3 Lynch-like syndrome Breast and/or ovarian cancer Lynch syndrome 5 Gastric cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775248712 RCV001188489 |
1088 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1303047277 RCV001064208 |
1089 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253751 RCV002322081 RCV001223215 rs1669748364 |
1089 | L>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074832 rs267608091 |
1090 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167133 rs786203712 |
1090 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573738 RCV000629992 RCV000074833 rs587779259 RCV000483834 RCV001358489 |
1090 | E>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041647 rs1669749043 |
1090 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457746 RCV001001136 rs876660165 RCV000708886 RCV000216891 CA10578135 |
1090 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795872 CA46715935 rs143477948 |
1090 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758204 RCV001858111 RCV001770503 rs143477948 RCV000575395 |
1090 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502914 CA346758246 RCV000567264 |
1091 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001304494 CA350639 rs864622637 RCV000206624 RCV001019563 |
1091 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230113 CA16610935 rs1060502914 RCV002446827 |
1091 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000074834 rs267608095 |
1092 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810186 rs1572735435 CA346758280 |
1092 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691037 rs1558387361 |
1093 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186748 rs876661048 |
1093 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067326 RCV000223169 rs876659302 CA10578136 |
1093 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000630156 CA10577288 rs876661048 RCV000216039 |
1093 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658945 RCV000220048 RCV002295291 CA10578138 |
1094 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331454 RCV000527310 |
1095 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001080360 RCV000121585 CA012434 RCV000115413 RCV000412360 RCV001798330 RCV000586502 RCV000204658 rs376243329 |
1095 | R>C | Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000412287 RCV000164048 RCV000985842 RCV000433110 COSM190065 VAR_043966 rs63750253 CA012443 RCV000524168 |
1095 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC and LYNCH5; unknown pathological significance; normal mismatch repair activity [NCI-TCGA, Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA46715962 RCV001348330 rs376243329 |
1095 | R>S | Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000585439 CA346758382 RCV002448817 rs1553331471 RCV000803099 |
1096 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569924 rs1553331477 CA346758417 |
1097 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660564 CA346758455 RCV000569493 |
1098 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001019718 CA915943951 rs1572735512 RCV001224705 |
1098 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660564 RCV001070970 RCV002451308 |
1098 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553331482 CA346758431 RCV002529260 RCV000581149 |
1098 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578139 rs876660564 RCV000214591 RCV001854702 RCV002472974 |
1098 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064795895 CA346758468 RCV001019750 |
1099 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331494 RCV001204987 CA346758472 RCV000574714 RCV001799687 |
1099 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049227 RCV000485734 RCV000573659 CA16617696 rs1064795895 |
1099 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750442 RCV000764431 RCV000587747 RCV001358521 RCV000074836 VAR_043967 RCV000223174 RCV000622259 RCV000524169 CA012473 RCV000218926 |
1100 | T>M | Hereditary cancer-predisposing syndrome Endometrial carcinoma Inborn genetic diseases Hereditary nonpolyposis colorectal neoplasms Lynch syndrome CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA012463 RCV000222346 rs63750442 RCV001089139 RCV000129716 |
1100 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370353868 CA070623 RCV001019819 COSM1021301 RCV000553191 RCV001200628 |
1101 | K>N | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16617697 RCV000818061 RCV000478262 rs758782048 |
1102 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553331510 CA346758551 RCV000630062 RCV001186066 |
1102 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331529 RCV000586843 CA346758575 RCV001019847 RCV001203154 |
1103 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331522 CA346758567 RCV000821396 RCV000772493 RCV000589772 |
1103 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331522 RCV000708887 RCV000807532 RCV000582599 CA346758568 |
1103 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223509 RCV000630183 RCV000009490 RCV000630139 RCV000574023 RCV000074838 rs267608092 RCV000074837 RCV000202034 |
1104 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176236 rs267608092 |
1104 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764432 RCV003155125 RCV000486074 RCV000205915 CA070636 RCV000216977 rs747441460 |
1104 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553331534 CA346758594 RCV000580941 RCV001853883 |
1104 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000121582 RCV000130275 RCV000503173 rs267608092 RCV000545922 |
1105 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042372 rs1060502910 |
1105 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA070646 RCV000461508 rs755716475 RCV000220326 |
1105 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000986734 CA16610936 RCV002451122 RCV002230111 rs1060502910 |
1105 | G>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1189795764 CA346758647 RCV001019930 RCV001055342 |
1106 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553331552 RCV000629787 CA346758632 RCV000579998 |
1106 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758673 RCV000808125 RCV000582580 rs1258021186 |
1107 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000486507 RCV000530102 RCV000580608 rs1064795429 |
1107 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074839 rs63750377 |
1107 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352564 rs1669757838 |
1107 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA070651 rs779415187 RCV001019933 |
1107 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000074840 rs267608088 |
1109 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215880 rs1669758701 |
1109 | I>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001755783 RCV002323911 RCV000559244 CA346758716 rs1270167314 |
1110 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA012609 RCV000701255 RCV000166804 rs374070511 |
1110 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001186603 CA070657 RCV000546830 RCV000588861 rs374070511 |
1110 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001307797 rs1553331582 CA346758718 RCV000569041 |
1111 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000202177 RCV000524172 RCV001193123 RCV000233414 RCV000131783 rs587782562 |
1112 | D>E* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985259 RCV000206715 RCV000571369 RCV000663075 rs773955368 RCV000508319 CA070677 |
1112 | D>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1165839059 RCV000693676 CA346758730 |
1112 | D>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001000748 CA012631 rs786202044 RCV001070636 RCV000164659 |
1113 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000781992 rs41295272 CA346758735 RCV002325487 |
1113 | I>S | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753655 CA10578140 RCV000217989 rs876658315 RCV000811918 |
1113 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564889 RCV000478159 CA16617699 rs1064793520 |
1114 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813407 RCV000566943 rs1553331600 RCV002483532 RCV000586719 CA346758738 |
1114 | L>Q | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216430 RCV002322050 rs1064793520 |
1114 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854281 rs587779260 RCV000074841 |
1115 | I>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669760609 RCV001063768 |
1115 | I>F* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070924 rs1669762062 |
1115 | I>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747959862 CA070687 RCV001562653 RCV001020047 RCV000560199 |
1115 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572735738 RCV000802421 CA346758743 |
1115 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167775 RCV000491683 CA346758749 |
1116 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167775 RCV000817387 RCV002325607 CA346758747 |
1116 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230242 CA070699 RCV000570386 RCV000487138 rs773245315 |
1117 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012661 RCV000165846 rs786202829 RCV001233478 |
1117 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs773245315 RCV001191687 |
1117 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221433 RCV000561440 CA10577287 rs773245315 |
1117 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000630004 CA070708 RCV002325199 rs760530339 |
1118 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012669 rs267608084 RCV000074842 |
1119 | E>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758769 rs1461013021 RCV001192322 |
1119 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000216765 CA10577286 rs876661138 RCV000536220 RCV000491795 |
1119 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA645369286 rs1114167695 RCV000491089 |
1119 | E>G* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758765 rs267608084 RCV000491737 |
1119 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491480 rs1114167793 CA346758771 |
1120 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340554 rs1669764840 |
1120 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146737457 CA346758777 RCV000690632 |
1120 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1114167793 RCV001297329 |
1120 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346758780 RCV001020091 rs587781609 |
1121 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377226210 CA070730 RCV002458443 RCV002271586 RCV000798446 |
1121 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129694 RCV000629979 RCV000212682 CA012691 rs587781609 |
1121 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669765454 RCV001237379 |
1121 | E>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796073 CA346758782 rs776589986 |
1121 | E>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001805074 rs1060502892 CA16611045 RCV000662840 RCV000773186 RCV000467819 |
1122 | Q>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804312 rs1572735859 CA346758786 |
1122 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012699 rs267608086 RCV000074843 RCV001854282 |
1123 | E>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608086 RCV001203415 |
1123 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630174 RCV000663304 rs1553331659 |
1124 | N>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206852 rs1443258363 CA346758799 RCV001020115 |
1124 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346758798 RCV000823749 rs1443258363 |
1124 | N>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001242290 rs1443258363 |
1124 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020127 rs1572735887 CA346758810 |
1125 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807303 rs1572735887 CA346758811 |
1125 | G>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331665 RCV000575541 RCV002528142 |
1126 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346758815 rs766608409 RCV002267017 RCV000692316 RCV001020132 |
1126 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA46716079 RCV001217550 rs766608409 |
1126 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000792472 CA346758822 rs1572735927 |
1127 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230103 RCV000775727 rs1060502880 CA16610957 |
1127 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001800369 RCV000573399 CA012724 rs587779261 RCV000524174 |
1128 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000574551 RCV001853717 CA070745 rs587779261 |
1128 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794887 rs1572735943 |
1129 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502905 CA16610963 RCV000473541 |
1129 | C>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587776705 RCV000009496 |
1129 | C>L | Mismatch repair cancer syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502905 RCV002456510 RCV001348022 |
1129 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669769129 RCV001209050 |
1130 | V>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630036 rs752164796 RCV001188055 CA346758841 RCV002560006 CA346758840 |
1130 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000481029 RCV001325454 rs752164796 RCV002455924 CA070759 |
1130 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001211059 rs1572735989 |
1131 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572735992 RCV001020181 CA346758852 |
1131 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020179 rs1572735989 CA346758849 |
1131 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491771 RCV001280931 rs1114167711 CA346758859 RCV002523439 |
1132 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781676597 RCV001222165 |
1132 | V>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781676597 RCV000579610 CA070770 RCV000525940 |
1132 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000526561 rs1553331722 |
1133 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572827 CA346758866 RCV000555103 rs730881805 |
1133 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs730881805 CA346758867 RCV001020188 |
1133 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1669770252 RCV001241087 |
1134 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567055 RCV001865592 CA346758874 rs1376398586 RCV000502647 |
1134 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001050564 rs1114167697 RCV000491586 CA346758871 RCV000519619 |
1134 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553331733 RCV000580799 CA346758880 RCV001853884 |
1135 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556293 rs1553331738 |
1137 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193729 RCV000629949 CA346758901 RCV002457986 rs1553331742 |
1137 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758898 rs1558387808 RCV000706651 |
1137 | M>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805679 CA346758906 RCV002453800 rs1572736091 |
1138 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781544 RCV001267896 |
1139 | G>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781544 RCV000804902 RCV000657283 RCV000129558 |
1139 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751063 COSM1166720 RCV000823760 RCV001020244 CA346758916 |
1139 | G>C | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000704717 RCV001524596 CA346758917 rs1316409501 |
1139 | G>D | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs63751063 CA012775 RCV002452190 |
1139 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000499888 RCV000563961 rs1316409501 RCV001211743 CA346758919 |
1139 | G>V | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1572736122 RCV002327213 RCV000985843 RCV002550593 |
1140 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003144144 RCV001229364 rs587781544 RCV001192427 RCV001357574 RCV001249966 RCV000162454 |
1140 | K>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020254 RCV002551825 rs1572736128 |
1141 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669773070 RCV001302020 RCV002451674 |
1141 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284662 RCV002451641 rs1669772948 RCV002537933 |
1141 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346758939 rs1572736148 RCV000815775 RCV001184843 |
1142 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012799 RCV001762179 COSM1614885 RCV000212683 RCV002288562 rs267608089 RCV000524175 RCV000115415 RCV001357449 RCV000656899 |
1142 | T>M | Variant assessed as Somatic; 0.0 impact. liver Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs267608089 RCV001020268 CA346758942 |
1142 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1236342555 RCV000572078 RCV001209913 CA346758947 |
1143 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771925339 CA070809 RCV001242725 RCV001349683 |
1144 | M>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001325813 rs1669773824 |
1144 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034622 RCV000220316 RCV000482863 RCV000206842 rs864622607 CA350840 |
1144 | M>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001383571 RCV002453724 RCV000196323 rs863224476 |
1145 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553331777 RCV001063296 RCV002451272 |
1145 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346758963 RCV000579636 rs1553331777 |
1145 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074849 RCV000561009 RCV000629768 rs63750356 RCV000657654 CA012815 |
1146 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346758973 RCV000491167 rs1114167759 |
1146 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355496 RCV000545459 rs587779262 CA012827 RCV000491285 |
1146 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346759923 RCV000491961 rs876659975 RCV001365118 RCV002307520 |
1147 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579899 CA346759922 rs876659975 RCV001853885 |
1147 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346759917 RCV000693530 rs770054790 |
1147 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012926 RCV000168374 rs770054790 RCV000565176 |
1147 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000215516 RCV001355707 CA10578143 rs876659975 RCV000469230 |
1147 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553332151 RCV000985844 RCV000547566 |
1148 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685016 CA070952 rs763058648 RCV002255503 |
1148 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763058648 RCV001338354 |
1148 | G>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478492 RCV000561997 RCV000820952 rs63750257 CA070946 RCV000758613 |
1148 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10578144 RCV000222995 RCV001770182 RCV000629897 rs876660151 |
1149 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853735 CA10582085 RCV000230328 RCV001313398 |
1149 | L>I | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575337 RCV000527691 rs1057517763 CA16042488 RCV000413022 |
1150 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346759976 RCV001284014 RCV002254691 RCV001535554 RCV000491638 RCV000456211 RCV000213324 RCV001360781 RCV001020338 rs762134820 CA070980 |
1150 | L>F | Turcot syndrome Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001188994 RCV000805269 rs1057517763 CA346759964 |
1150 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774584492 RCV001324060 |
1150 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782625 CA346759989 RCV000491962 |
1151 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782625 RCV000412120 CA012948 RCV000132010 RCV000484116 RCV000708888 RCV000234247 |
1151 | A>G | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16617701 rs587782625 RCV000481740 RCV002455931 RCV000629853 |
1151 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249962 CA346760010 RCV001229051 rs1572738396 |
1152 | V>I | Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553332160 CA346760030 RCV003117348 RCV000581108 RCV000819739 |
1153 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA070996 RCV001071026 rs761160431 RCV000573308 |
1153 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000165868 RCV000535731 CA012959 rs786202842 |
1154 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001020362 RCV000548350 rs786202842 CA346760045 |
1154 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000810027 CA346760038 rs1572738413 |
1154 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568670 RCV001853718 rs1553332166 RCV000780477 CA346760051 |
1155 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760049 rs1553332166 RCV000583494 |
1155 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985845 RCV000465952 RCV000529055 rs766817979 CA071006 RCV000564013 CA16611046 |
1155 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001020370 rs876658980 CA10578146 RCV000216549 RCV000629941 CA346760073 RCV000706518 |
1156 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309729 CA346760069 COSM393571 rs876659549 RCV002456402 |
1156 | M>K | lung Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000217088 rs876659549 CA10578145 RCV000662884 RCV000482975 RCV000475398 |
1156 | M>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502931 RCV000567441 CA16611165 RCV001584163 RCV000462281 |
1156 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541079 RCV000132174 RCV001174713 RCV001267890 RCV002514752 rs587779264 CA012982 |
1157 | G>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175727 CA346760094 rs752212361 RCV000758614 |
1157 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000131534 RCV000202300 CA012971 rs587779264 RCV002513797 RCV002510780 |
1157 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184142 RCV001876128 rs752212361 |
1157 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167767 RCV001194391 RCV000689480 RCV000491463 |
1158 | C>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750157 VAR_043968 CA46716995 |
1158 | C>R | CRC; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001020390 RCV001860984 rs1572738533 |
1159 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819698 rs587782111 RCV000607246 RCV000202052 CA166781 RCV000130627 RCV003103734 |
1159 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657748 RCV001249964 CA013011 RCV000228304 RCV002272057 RCV001354656 RCV000580568 CA10582086 RCV003137833 RCV000078315 RCV000456684 rs398123231 RCV002265599 RCV000491158 RCV000781603 |
1159 | Y>* | Carcinoma of colon Lynch-like syndrome Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Papillary carcinoma of the corpus uteri Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000164110 RCV000589252 CA013053 rs376799914 RCV000663282 RCV000466573 RCV000506000 |
1160 | V>F | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000165060 RCV000201982 RCV000656900 RCV000708889 CA013029 RCV001082754 rs376799914 RCV000410385 |
1160 | V>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129922 rs376799914 CA013040 RCV001370905 |
1160 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001346527 CA346760133 rs751190199 RCV000567767 |
1161 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000819197 rs587779935 RCV000115416 RCV000212684 CA013090 |
1162 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000128906 rs63751427 RCV000484286 RCV000542403 |
1162 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060537 CA013068 rs587779266 |
1162 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760138 RCV000692058 rs587779266 |
1162 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000791426 RCV000491292 RCV000074867 rs587779267 CA013109 RCV000115417 |
1163 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071128 RCV000695890 CA013128 CA46717028 RCV000131659 rs531674673 |
1163 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001240129 RCV002451584 rs587779267 |
1163 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084016 RCV003149723 RCV001353894 VAR_043969 RCV000121587 RCV000074868 CA013119 RCV000132123 rs63750252 RCV001137560 RCV000587729 |
1163 | E>V | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome LYNCH5 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000630084 RCV001328390 RCV001731532 RCV000491050 rs876661073 |
1165 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456451 rs1669872142 RCV001325048 |
1165 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760165 rs1553332214 RCV000629978 RCV001020447 CA346760164 |
1166 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564264 rs1553332217 CA346760168 RCV000630070 |
1167 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760169 rs1572738696 RCV001020468 |
1167 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553332217 CA346760167 RCV001020450 RCV001246343 |
1167 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558389395 CA346760172 RCV000702356 |
1168 | T>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572853 RCV000588973 RCV000543217 rs904846776 CA46717040 |
1169 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346760178 RCV002469267 rs904846776 RCV001020472 RCV000699279 |
1169 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs63751410 RCV000074869 |
1170 | I>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558389423 CA346760183 RCV000758615 |
1170 | I>L | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020481 rs1572738741 CA346760187 RCV001776082 |
1170 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558389423 RCV001069894 CA346760184 RCV000775011 |
1170 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002288563 RCV000162609 RCV000630154 rs63750194 RCV000074871 RCV000221153 |
1171 | D>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669874125 RCV001062280 |
1171 | D>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555780 RCV001020491 rs1324100572 RCV001354581 |
1171 | D>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456411 rs1669874241 RCV001314214 |
1171 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074873 RCV002453382 rs267608099 |
1172 | R>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409599 RCV001047501 rs63751327 RCV003162478 RCV000074872 RCV000491489 RCV001353417 RCV002509413 RCV000202194 RCV000166347 RCV001762180 RCV000627713 |
1172 | R>missing | Familial prostate carcinoma Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123232 RCV000200371 RCV000078316 RCV001814046 RCV000162479 |
1172 | R>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562398 rs1553332262 CA346760202 |
1172 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206664 rs864622217 CA350668 RCV002453737 RCV001345826 |
1172 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760204 RCV001020498 rs730881806 RCV002551828 |
1173 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160695 RCV000464912 RCV000573393 CA013259 rs730881806 |
1173 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815894 rs1572738865 |
1174 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750296 RCV000074875 |
1174 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1669876490 RCV001183442 |
1174 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020518 rs768759155 CA346760216 |
1174 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1669876634 RCV002451292 RCV001067830 |
1174 | F>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608101 RCV000201987 RCV000074876 |
1175 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369583604 RCV000484936 RCV000573926 RCV000706792 CA071114 |
1175 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001239729 RCV000568513 rs1553332283 |
1175 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369583604 RCV001349459 |
1175 | T>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369583604 RCV000486443 RCV000214931 RCV000708890 CA10578147 RCV001066026 |
1175 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000160744 rs730881828 |
1176 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203968 RCV000204275 RCV000564868 CA348519 |
1176 | R>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786203968 CA346760221 RCV002453811 RCV000807293 |
1176 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10577291 RCV001020525 RCV000781588 RCV000220635 rs876661148 |
1176 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225408 RCV000202131 RCV001194361 RCV000491652 RCV000233857 |
1177 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572738932 CA346760228 RCV001020541 |
1177 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001187439 rs748398941 |
1177 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572738932 RCV001208100 |
1177 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469909 rs748398941 RCV000568727 CA071122 RCV000521217 RCV000663017 |
1177 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303894 RCV001764474 CA071129 rs772380953 RCV000491443 |
1178 | G>D | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558389590 CA346760232 RCV000808911 |
1178 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760231 RCV000700791 rs1558389590 |
1178 | G>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773583312 CA071136 RCV000630087 RCV002258975 |
1179 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA346760240 rs773583312 RCV000491948 |
1179 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002467449 RCV000491840 CA071147 rs766905993 |
1180 | S>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000543984 rs1553332297 RCV001193100 |
1181 | D>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556518 RCV000486053 RCV002267830 rs267608100 CA013331 RCV000662821 RCV000702066 CA346760250 RCV000565574 |
1181 | D>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000220063 rs876660216 CA10578149 RCV000808376 |
1181 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760246 rs762406364 RCV000629712 |
1181 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000805991 CA071169 rs762406364 RCV001020560 RCV001800892 |
1181 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660216 RCV001236210 CA346760248 RCV001020563 |
1181 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314213 RCV001751602 RCV002456410 rs1669880235 |
1182 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002510908 RCV001020572 RCV000499800 rs1459635476 RCV000537284 CA346760263 COSM442970 |
1183 | I>K | Hereditary cancer-predisposing syndrome breast Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000812105 RCV002268302 rs751279985 RCV001020574 |
1183 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760264 rs1453695821 RCV002550862 RCV001020575 |
1183 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1669881014 RCV001304095 |
1184 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698906 RCV001020591 rs751225252 CA071193 |
1184 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001020593 CA346760277 RCV001231905 rs1572739043 |
1185 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629763 rs1553332312 |
1185 | S>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013340 RCV000165760 RCV001544988 RCV001762380 rs786202777 RCV000703941 |
1185 | S>A | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202777 RCV001040055 RCV002454286 |
1185 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760404 RCV000583381 rs587781690 |
1186 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000206364 RCV000764433 CA013435 RCV000129855 rs587781690 RCV000485699 RCV000657043 |
1186 | G>D | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502909 RCV000775741 CA16610969 RCV000465628 |
1186 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781690 RCV001183375 |
1186 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553332629 RCV001053252 |
1187 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150632241 RCV000464152 RCV000486385 RCV000491973 CA071386 |
1187 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150632241 CA346760418 RCV000803691 RCV002453780 |
1187 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000571078 rs1553332604 |
1187 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760411 RCV000580926 rs1553332616 |
1187 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553332622 RCV000562198 RCV000702005 |
1188 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013469 RCV000685790 RCV000478227 RCV000582224 rs587779272 |
1188 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669957613 RCV001049789 |
1188 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284016 RCV001020613 rs891318615 RCV001873335 |
1189 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166596 rs786203331 RCV000795134 |
1189 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218856 RCV000482279 rs753778809 RCV001798716 RCV000558107 CA071392 |
1189 | T>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705873 RCV003165915 CA346760465 rs778651272 |
1190 | F>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001176241 rs1669958074 |
1191 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485755 CA071410 RCV002455915 rs752857771 RCV002525781 |
1191 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000776942 rs1558390698 CA346760493 |
1191 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020641 CA346760488 RCV001060375 rs1420669902 |
1191 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs752857771 CA346760483 RCV000570026 |
1191 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553332671 RCV000585938 RCV000583682 RCV003139883 |
1192 | V>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002466494 RCV000490868 RCV000460316 RCV000684804 rs1057517764 RCV001192428 RCV000413655 |
1192 | V>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223834 rs1572741755 |
1192 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760501 RCV001020645 rs1572741755 |
1192 | V>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669959178 RCV001228382 RCV002259096 |
1192 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502881 RCV000482445 RCV000465518 RCV000491877 |
1193 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167755 RCV002527062 RCV000491624 |
1193 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013478 rs63751328 VAR_043970 RCV000166108 RCV001302789 RCV000679239 |
1193 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH5; decreased mismatch repair activity; displays marked impairment of heterodimerization with MSH2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs773262801 RCV000534278 CA071421 |
1194 | L>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ESP ExAC gnomAD |
|
RCV001020663 CA346760524 RCV002551829 rs1572741819 |
1195 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630131 rs758428552 RCV002457990 CA071428 |
1195 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574327 RCV002496782 RCV000587963 rs75095286 RCV000467878 CA071434 |
1196 | E>Q | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001190510 rs1669961764 |
1196 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1298129961 RCV001860994 CA346760533 RCV001020673 |
1197 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000580875 RCV001860048 CA346760535 rs1298129961 |
1197 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001297305 RCV002451659 rs1669962346 RCV001531315 |
1198 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558390771 RCV002451202 RCV001049722 |
1199 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760544 rs1558390771 RCV000776863 |
1199 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578150 RCV000803788 rs773185557 RCV000219681 |
1199 | S>N | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000809274 rs773185557 CA16617703 RCV000481970 |
1199 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000766608 RCV000412406 rs587781482 CA013491 RCV000129441 RCV000539721 RCV000478382 |
1200 | I>M | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002336645 CA346760550 rs1572741875 RCV000806972 |
1200 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA071451 RCV000791410 RCV002277568 RCV002243889 RCV000204738 rs781627838 RCV000566750 |
1200 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA071474 RCV000220632 rs182024561 RCV000685624 |
1201 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001020696 rs1064796248 RCV000547773 RCV000483635 |
1201 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220560 rs182024561 RCV000767044 RCV000483164 CA013502 RCV001526386 RCV000684810 |
1201 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000610333 RCV000584693 RCV000587024 CA346760558 RCV000629874 rs369778514 |
1202 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779273 CA46717445 RCV002456042 RCV000540510 |
1202 | M>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000662842 RCV000524181 CA013519 RCV000129370 RCV000212685 rs587779273 RCV000764434 |
1202 | M>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000129582 RCV000780465 CA013509 RCV000479516 RCV000411815 RCV000810760 rs369778514 |
1202 | M>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779274 RCV000074893 RCV002267831 RCV002514332 |
1203 | H>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490961 CA16610976 rs876660882 RCV003148746 RCV002496783 RCV000457877 |
1203 | H>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203471 rs1669964889 |
1203 | H>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578151 rs876660882 RCV000985846 RCV000218868 RCV000553146 |
1203 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs869312799 RCV000663332 RCV001358963 CA357797 RCV000210134 RCV001020725 |
1204 | A>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064797252 CA16621748 RCV000775956 RCV000487547 |
1205 | T>A | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1558390840 RCV001861936 RCV000708891 |
1205 | T>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779275 RCV001020731 RCV002514333 CA013549 |
1205 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020730 RCV001860995 CA346760576 rs587779275 |
1205 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572741970 TCGA novel CA346760580 RCV001020734 |
1206 | A>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV003145254 RCV001020737 rs1572741984 |
1207 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760391254 RCV000484988 RCV000166850 CA013567 RCV000629789 |
1207 | H>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000480946 RCV001048449 rs766075233 CA071509 |
1207 | H>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760391254 RCV002453725 CA335866 RCV002229121 |
1207 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000657249 rs1553332733 RCV000576026 RCV001853719 |
1208 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760591 rs1572742021 RCV001020748 RCV001064477 |
1208 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002460134 RCV001859211 rs1572742021 RCV001199949 |
1208 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572742015 RCV001020747 CA346760589 |
1208 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853253 RCV000202124 RCV002453733 RCV001800526 rs863225409 |
1209 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167688 RCV002523978 CA346760597 RCV000491433 |
1209 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707298 CA346760595 RCV001020752 rs753675331 |
1209 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs864622041 RCV000206750 RCV000215362 CA350757 RCV000471873 |
1211 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000774609 rs587776706 RCV000009497 RCV000507938 RCV001069945 RCV001355519 |
1212 | V>missing | Turcot syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610979 rs1060502896 RCV002230408 RCV003168828 |
1212 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809152 rs864622748 CA346760609 RCV001210530 RCV002460136 |
1212 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000204393 rs864622748 RCV000781594 RCV000662541 CA348626 RCV001020770 |
1212 | V>M | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000074895 rs63750731 |
1213 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491846 rs1114167788 RCV000553907 CA346760619 RCV001755732 |
1213 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229851 rs1572742149 |
1213 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572742149 RCV001063482 CA346760615 |
1213 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760621 rs1114167744 RCV000491279 RCV001319687 |
1214 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167744 RCV001037418 |
1214 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760636 CA346760635 RCV000491503 RCV002346194 rs1114167690 RCV000986740 RCV001851334 |
1216 | G>R | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657087 RCV000454773 RCV000491291 CA013716 rs587780677 RCV000122965 |
1217 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs63749898 CA013741 RCV002458726 RCV001902865 |
1217 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858109 CA346760818 rs1553332966 RCV000571415 |
1217 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749898 RCV001321731 |
1217 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301937 rs776407427 RCV002267961 RCV000222748 CA10578153 RCV000231815 |
1218 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001237572 rs1670040131 |
1218 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002560860 RCV001184683 rs1670039388 |
1218 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670040394 RCV001247576 |
1219 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_043971 CA013759 COSM13892 rs63750949 RCV001222841 RCV000572978 |
1219 | T>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. skin central_nervous_system Hereditary nonpolyposis colorectal neoplasms CRC; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA013750 rs63750949 RCV000131017 |
1219 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553332973 RCV000530800 CA658655732 |
1220 | A>SS | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002456509 rs769427505 CA071802 RCV001347940 RCV001751677 |
1220 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1670040273 RCV001343656 |
1221 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760835 rs876661139 RCV002529105 RCV000581083 |
1221 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577290 RCV000219779 RCV001526277 rs876661139 |
1221 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1670041286 RCV001044401 |
1221 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752404604 RCV000799829 RCV000492020 RCV000588486 |
1222 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579922 CA346760838 rs775265464 |
1222 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002268131 RCV000491642 CA071813 RCV001370230 rs775265464 |
1222 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1572744487 RCV000792118 CA346760852 |
1223 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346760855 CA346760859 rs1553332985 RCV000561463 RCV000797853 |
1224 | G>R | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA071830 rs63750370 RCV002458409 RCV000791493 |
1225 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA013768 RCV000524182 RCV000212686 RCV001354592 RCV000780485 rs63750370 RCV000410774 VAR_067299 RCV003153344 RCV000160696 |
1225 | T>M | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Ovarian cancer LYNCH5; unknown pathological significance; normal mismatch repair activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000483707 RCV000581141 RCV000809551 rs1064794746 CA16617706 |
1226 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854284 RCV000574037 rs587779282 CA013789 RCV000625244 RCV000217680 |
1227 | I>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000695682 CA346760896 RCV001182101 rs587779282 |
1227 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779283 RCV000491032 RCV001355101 CA013799 |
1228 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564311 CA071840 rs774249402 RCV000457639 |
1229 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881807 RCV000226708 CA013811 RCV000663071 RCV000160697 RCV000564770 RCV001175454 |
1229 | N>S | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001181389 CA346760922 RCV000629846 rs774249402 |
1229 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130636 RCV000556805 RCV001030499 CA013825 rs587782117 |
1230 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001390759 RCV000160745 RCV000205295 rs730881829 |
1231 | V>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1221659275 CA346760964 RCV001053749 |
1231 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779284 RCV000567987 RCV001355382 RCV000221540 RCV000704903 |
1232 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039990 rs1670044220 |
1232 | V>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165941 rs786202887 CA013875 |
1232 | V>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046379 rs41295276 |
1232 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044651 RCV000167477 CA013865 rs41295276 VAR_038039 |
1232 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000030271 RCV000202074 RCV000576542 RCV000524183 RCV001263515 rs193922343 RCV000128914 |
1233 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573138 rs1553333017 RCV000560496 |
1233 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346760972 rs1572744617 RCV001070721 RCV001020902 |
1233 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001755981 RCV000590658 CA346760973 rs766557450 RCV000629833 RCV001525796 |
1233 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766557450 RCV001244915 CA071876 |
1233 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558392033 RCV002348762 RCV000686029 RCV000776597 RCV001226422 |
1234 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183857 rs35717727 |
1234 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350168 CA346760977 rs35717727 RCV000550158 |
1234 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
VAR_038040 CA46719355 RCV001020925 rs35717727 |
1234 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP |
|
rs63750523 RCV000502171 RCV000491347 |
1234 | E>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003139694 RCV000491958 RCV003165481 RCV000694262 rs193922343 RCV000781589 RCV000491792 RCV000202173 |
1235 | L>missing | Endometrial carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001178948 rs876661084 RCV001361175 |
1235 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630095 CA10577292 RCV000218152 rs876661084 RCV000570599 |
1235 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000572340 rs1553333031 |
1236 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513798 RCV000074912 rs1553332996 CA330551 |
1236 | A>E | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163050 rs1553333039 RCV000662575 CA346760990 |
1236 | A>P | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013945 RCV000168236 RCV001020953 RCV001373676 rs754289472 |
1237 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1670047042 RCV001320417 |
1237 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001178311 rs1000702910 |
1238 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343533 RCV002350629 CA46719365 rs1000702910 |
1238 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA013959 rs755349360 RCV000485750 RCV000164691 RCV000458549 |
1238 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1000702910 CA346761003 RCV000687968 |
1238 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000482291 RCV002466516 RCV000697841 rs1064794384 RCV000561455 |
1239 | I>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761011 RCV000797936 rs1572744771 |
1239 | I>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819295 rs786203816 RCV000567300 CA346761010 |
1239 | I>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA013969 RCV002265651 RCV000550915 RCV000478326 RCV000167288 rs786203816 |
1239 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000629876 CA346761006 RCV002343196 rs1469961964 |
1239 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000796524 CA346761016 rs1553333057 RCV000574634 |
1240 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002251744 rs1114167706 RCV000491982 |
1241 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002347859 RCV001386273 CA10582087 RCV000232271 rs878853736 |
1241 | C>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs1021631442 CA46719383 RCV002523440 RCV000491034 RCV000664316 |
1241 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779287 RCV000074921 RCV001185021 |
1242 | R>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578156 RCV001243869 RCV000218524 rs587779285 |
1242 | R>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346761027 rs587779285 RCV000539061 |
1242 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001034637 RCV000230170 RCV000663091 RCV000129081 RCV000485282 rs63750119 CA014077 |
1242 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000130075 RCV001328410 RCV001378724 rs63750119 CA014086 |
1242 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750119 RCV001236299 |
1242 | R>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486934 RCV000216969 RCV000767045 CA014030 rs587779285 RCV001526386 RCV000684809 |
1242 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000074918 RCV000524185 RCV001532986 rs63749942 RCV002243694 RCV001249986 RCV000129144 RCV000255857 |
1242 | R>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216034 rs147453999 CA071913 RCV003142159 |
1243 | T>A | Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001307535 CA346761031 RCV000579406 rs878853737 |
1243 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232958 rs878853737 RCV001339702 CA10582088 |
1243 | T>K | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001358662 RCV000122966 RCV000588959 RCV001005027 RCV000659895 RCV001081954 RCV000115419 RCV000212687 rs147453999 CA014099 |
1243 | T>S | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000219902 rs876658650 RCV000823118 |
1244 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001565850 RCV000219285 RCV001193097 rs876658650 RCV000629717 |
1244 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702253 CA346761033 rs1558392241 RCV000772401 |
1244 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502938 RCV000461674 CA16610980 RCV000563454 RCV002282157 |
1244 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587779288 RCV000074922 RCV001381216 RCV002345377 RCV003137608 |
1245 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001554267 RCV001020998 RCV001192493 RCV001067391 rs1553333072 RCV000486504 |
1246 | S>missing | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670054668 RCV001193099 |
1247 | T>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702506 rs1558392228 |
1247 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001764462 RCV002475931 rs769360577 RCV000705263 RCV000485435 CA071931 RCV000490827 |
1247 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000780480 RCV000484522 RCV000662602 rs786204182 RCV000168238 CA014131 RCV000214013 COSM575510 |
1247 | T>S | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs863225412 RCV000657120 RCV000491301 RCV001375485 RCV000533181 RCV000202077 |
1248 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014142 VAR_043972 rs63750882 |
1248 | H>D | CRC; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001052437 RCV001524606 rs1670056970 |
1248 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220341 rs63750882 RCV003224227 RCV000552496 RCV001775683 CA071942 |
1248 | H>Y | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000479814 RCV000162579 RCV000659896 RCV000630201 rs786201084 |
1249 | Y>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759864 RCV001021019 rs1558392265 |
1249 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115420 rs587779936 RCV001854549 |
1250 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021035 CA071947 rs749129928 RCV000820494 |
1250 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001021033 rs1572744993 CA346761072 |
1250 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761082 rs1558392317 RCV002360898 RCV000780466 |
1251 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000502952 RCV000566381 RCV000576807 RCV000216513 rs876661222 RCV001353594 RCV000690322 |
1253 | V>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014193 RCV000121589 RCV000656902 RCV000160698 RCV000411602 rs202066386 RCV000206271 |
1253 | V>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP |
|
RCV001139791 RCV000115421 CA014183 RCV001355140 RCV000656901 RCV001762225 RCV000212688 RCV000196523 rs202066386 |
1253 | V>E | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP |
|
RCV001337776 rs1670059017 |
1253 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333078 RCV000479861 RCV002526595 |
1253 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333093 RCV000576639 |
1253 | V>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779289 RCV000074924 |
1253 | V>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223276 CA10578159 rs187491488 RCV000229787 |
1253 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs878853738 RCV000478739 RCV000564937 CA10582089 RCV001818564 RCV000232565 |
1254 | E>DY | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002228250 RCV000774612 RCV000462597 RCV000115422 rs587779937 |
1254 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572745077 CA346761103 RCV001021076 |
1254 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218234 RCV001356797 RCV000590359 rs587779937 RCV001068250 |
1254 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524187 rs375459388 CA014214 RCV000212689 RCV000408995 RCV000160699 RCV000587284 |
1254 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346761100 rs1558392392 RCV000759865 RCV001855920 |
1254 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045304 RCV002348371 rs1670061805 |
1255 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572745084 RCV001021075 RCV001384168 |
1255 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1336339961 CA346761108 RCV000802298 RCV001021080 |
1255 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1336339961 CA346761109 RCV001021079 |
1255 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1336339961 RCV000569633 CA346761107 |
1255 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000482164 rs1553333127 RCV001215459 RCV001851215 RCV001524342 |
1256 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074926 rs63751058 RCV000546623 RCV000202271 RCV000491038 CA014232 |
1256 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761118 rs761643896 RCV000529460 |
1256 | Y>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346761117 rs1553333129 RCV000564105 |
1256 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333129 RCV001352256 |
1256 | Y>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689401 rs1553333129 CA346761115 RCV000582318 |
1256 | Y>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761643896 RCV000629866 RCV001284183 RCV000491950 CA071991 |
1256 | Y>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218855 rs1670062923 RCV002348732 |
1257 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750554 RCV000074927 CA014244 |
1258 | Q>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000227470 rs63750554 RCV000491197 RCV000479785 RCV000766490 CA071996 |
1258 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001021103 rs1572745173 CA346761137 |
1258 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021106 RCV000792501 rs1572745157 RCV002272356 |
1259 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572547 RCV001219614 CA346761141 rs1258636828 |
1259 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001805812 RCV000697720 CA346761150 rs1212740618 |
1260 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1572745187 RCV001021122 |
1261 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165125 RCV000459296 RCV001527033 rs773171352 CA014254 |
1261 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV002362700 CA014264 RCV000534776 rs587779290 |
1262 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629883 rs587779290 CA346761163 |
1262 | V>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164843 RCV000485038 RCV000559935 CA014275 rs367912290 RCV000659897 |
1263 | R>C | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121588 RCV000662548 RCV000764435 RCV000656903 RCV001079217 rs147852216 RCV000115423 CA014284 |
1263 | R>H | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147852216 RCV001327762 |
1263 | R>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206239 rs1670065671 |
1263 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA645369291 rs1114167717 RCV000490824 |
1264 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333164 RCV000571100 |
1265 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754469538 CA346761183 RCV002352387 RCV000806883 |
1265 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572745322 RCV001021157 |
1266 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021164 rs1572745360 |
1266 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325782 rs972387746 RCV002366203 |
1266 | H>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761190 RCV000777177 RCV000522115 RCV000687772 rs760023025 |
1266 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs972387746 RCV000548179 CA46719551 RCV001021161 |
1266 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000202066 RCV000491355 RCV000074931 RCV000703066 rs267608114 |
1267 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670069736 RCV001184154 RCV001358019 |
1267 | M>I | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148445930 RCV001307014 |
1267 | M>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230512 RCV000508216 RCV000589302 rs148445930 RCV000662794 RCV000132022 CA014348 |
1267 | M>T | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000519215 CA346761194 RCV001189136 rs1553333177 |
1267 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779293 RCV001933739 CA014410 |
1268 | A>E | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002356690 CA16611177 RCV000481062 RCV000663066 RCV000461283 rs587779293 |
1268 | A>V | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000684821 RCV000214022 rs267608118 RCV000074937 RCV000214836 |
1269 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670089838 RCV001186569 |
1269 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630008 rs876658276 CA10578162 RCV000213167 |
1269 | C>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876658276 RCV001021196 RCV001861011 CA346761219 |
1269 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1558393006 RCV000687726 |
1270 | M>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558393029 CA346761227 CA346761226 RCV003156284 RCV000697857 |
1270 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570586 rs777617756 RCV003126822 RCV000630109 RCV001174877 CA072169 |
1270 | M>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000506284 rs777617756 RCV001298248 RCV000570265 CA072173 |
1270 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000463747 RCV000166024 rs757963162 CA014425 |
1270 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553333303 RCV000571609 CA346761231 RCV000818330 |
1271 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770929545 RCV002230101 CA16610950 |
1271 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553333301 RCV000525128 |
1272 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333310 RCV000542256 |
1272 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670092894 RCV001035046 |
1272 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333321 RCV003144314 RCV000554861 |
1273 | N>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301709 rs1320711528 |
1273 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761241 rs1320711528 RCV000564561 |
1273 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs759642651 CA072193 RCV000774615 RCV000538478 RCV003153677 RCV002264952 |
1273 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001861012 rs201830316 CA072186 RCV001021223 |
1273 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1553333314 RCV000565085 |
1273 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761248 RCV000755029 RCV002352259 rs587779294 |
1274 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA014432 RCV001218412 rs587779294 |
1274 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761247 rs587779294 RCV000555651 RCV001178801 |
1274 | E>Q | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000074939 CA014446 rs63750262 |
1275 | C>* | Lynch syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV000702383 rs1558393107 |
1275 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002358396 rs1553333346 RCV000515465 |
1275 | C>missing | Gaucher disease type I Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558393006 RCV000820897 |
1275 | C>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761258 rs150990541 RCV001021231 RCV000531839 |
1275 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243087 rs150990541 |
1275 | C>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656904 RCV000115424 CA014456 RCV000410495 rs150990541 RCV000119134 RCV001194392 RCV001354737 |
1275 | C>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346761268 rs1314334810 CA346761267 RCV001021239 |
1276 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs1572746334 RCV001021236 CA346761266 RCV001036051 |
1276 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502903 RCV000471270 |
1277 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811669 rs1572746365 |
1277 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780486 RCV000700703 rs1558393070 RCV000985847 |
1277 | D>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055882 CA346761277 RCV000708719 rs587782109 |
1278 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346761279 RCV000818223 rs201191389 RCV002352443 |
1278 | P>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001555844 rs201191389 CA16610951 RCV000461791 RCV000491789 |
1278 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA014479 RCV000583219 RCV000034499 rs201191389 RCV000812999 RCV000412068 |
1278 | P>R | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002352105 rs587782109 CA346761278 RCV000684878 |
1278 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000130625 rs587782109 RCV000589175 RCV001086478 RCV001260255 CA014466 |
1278 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553333370 RCV000662746 |
1279 | S>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622400 RCV002247633 CA349759 RCV000662811 RCV000481950 RCV000205628 RCV000562735 |
1279 | S>N | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001021254 RCV000217451 CA346761285 rs876661245 RCV000581001 CA10577293 RCV000532619 |
1279 | S>R | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021248 RCV002489524 RCV001205730 rs1572746382 |
1280 | Q>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074940 CA014495 RCV001229855 RCV000603416 RCV001723643 rs63750139 RCV002362701 |
1280 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002360711 rs1210663110 CA346761289 RCV000685554 RCV000759867 |
1280 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348362 RCV001524813 rs1210663110 CA346761290 |
1280 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1572746488 RCV001861014 RCV001021257 |
1281 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000627732 RCV000409718 RCV000219135 RCV001356105 RCV000074942 RCV000491396 rs63751319 |
1281 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205009 rs864622384 CA349179 RCV000780468 RCV000773068 |
1281 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002358433 CA346761293 rs876659115 RCV000557789 |
1281 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA915943976 RCV001021219 rs1572746192 |
1281 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001358640 rs876659115 RCV000704640 RCV000708893 RCV000216678 CA10578163 |
1281 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001211651 rs1670100146 |
1281 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660361 RCV000218648 CA10578165 RCV000589207 RCV000487307 RCV000462482 |
1282 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580676 RCV000697631 rs1367615271 |
1282 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611080 RCV000472968 rs764507968 |
1282 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002354409 rs764507968 CA014538 RCV000167974 |
1282 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491794 rs1114167720 RCV001844178 |
1283 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866771359 RCV000699751 RCV000216834 |
1283 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561165 rs1553333421 RCV000468965 |
1283 | I>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761305 RCV001770533 rs1180903149 RCV000581724 |
1283 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs144714869 RCV000132112 RCV000708894 RCV000168184 CA014555 |
1283 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000485186 RCV001731697 rs1553333420 RCV000574392 RCV000461225 |
1283 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167783 RCV001062176 RCV000491166 |
1284 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572746651 RCV001021290 RCV001046018 |
1284 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001355170 RCV000576567 RCV000074943 RCV001420852 rs267608128 RCV000484754 RCV000214756 RCV000524190 |
1284 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657421 RCV001380321 rs1553333421 RCV000583214 RCV001353784 RCV000501318 |
1284 | T>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333438 RCV000558561 |
1284 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793781 RCV000478924 RCV002356772 |
1284 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551797 rs1553333449 |
1284 | T>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167743 RCV001220225 RCV000491805 CA346761310 |
1284 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707406 RCV002360838 rs63750836 CA346761311 |
1284 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750836 RCV001082428 CA014580 RCV000662523 RCV000454725 VAR_043973 RCV000131709 RCV001357732 RCV000759868 |
1284 | T>M | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) CRC; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001139792 CA346761312 rs63750836 RCV000694675 |
1284 | T>R | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346761314 RCV001858310 rs1369714474 RCV000561711 |
1285 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001322727 CA346761320 rs1553333455 |
1285 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333453 RCV000535694 CA346761317 RCV002305501 RCV000574208 |
1285 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761316 RCV000579598 rs1553333453 |
1285 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465667 rs1060502887 CA16610985 RCV001021298 |
1286 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216454 rs754443325 CA072238 RCV002515669 |
1286 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002368123 rs1060502887 RCV001340916 |
1286 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002356689 rs1553333432 RCV002230406 |
1287 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761332 rs1060504739 RCV001585927 RCV001021315 |
1287 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776626 RCV000506521 CA346761326 RCV001857252 rs1553333474 |
1287 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002366055 RCV001239589 rs1670107084 |
1287 | Y>IN | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873343 CA346761338 RCV001021316 rs1572746849 |
1288 | K>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1670108145 RCV001319384 |
1288 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853740 RCV001339597 RCV000234054 CA10582091 |
1289 | F>L | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001875815 RCV001176459 rs1670109084 |
1289 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558393549 RCV000777459 |
1289 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333481 RCV000571193 |
1289 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202223 RCV001853254 rs863225416 |
1289 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002229653 rs878853739 |
1289 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670108675 RCV001358418 RCV001236025 |
1289 | F>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333490 RCV000573922 CA346761356 RCV001858110 |
1291 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001140556 RCV001228701 RCV001760099 rs1670110153 |
1291 | K>N | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333435 RCV000491574 |
1291 | K>NVPL* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761368 rs1553333492 RCV000548173 |
1292 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350787 rs1670110414 |
1292 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761371 RCV002357193 RCV001347782 rs1461336062 |
1293 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs764835191 RCV001191276 |
1293 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528164 rs1553333497 |
1294 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227824 RCV002354634 rs878853741 CA10582092 |
1294 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003148775 rs878853741 RCV000540597 CA346761377 RCV001021347 |
1294 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333500 RCV002356765 RCV000479515 RCV000695362 |
1295 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480622 RCV001193699 RCV000214257 RCV000823682 rs876658817 |
1295 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758181932 RCV000566328 CA346761384 |
1295 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758181932 RCV000808331 CA072254 RCV000580177 |
1295 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758181932 RCV000572430 RCV000630073 CA346761385 |
1295 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000074946 rs267608130 |
1296 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290552 CA16610959 rs575714670 RCV000477645 RCV000561056 |
1296 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000572899 rs575714670 RCV000797361 CA072260 |
1296 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000805168 rs1553333526 RCV000580786 CA346761389 |
1296 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333526 CA346761388 RCV001021354 |
1296 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307578 rs1670114718 |
1297 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670115084 RCV002357080 RCV001295263 |
1297 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670115084 RCV001051628 |
1297 | S>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658655761 RCV001021376 RCV000527794 rs1553333530 |
1298 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202520 RCV000630080 RCV000165367 CA014634 RCV000482477 RCV001262375 |
1298 | Y>C | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000824109 CA346761400 rs1572747027 |
1298 | Y>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570914 rs1553333534 CA346761407 RCV000629792 |
1299 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333545 RCV000567466 |
1300 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167762 RCV000490965 RCV001327278 |
1301 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1184905732 RCV001021401 CA346761421 RCV001046834 |
1301 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001064273 rs1184905732 |
1301 | N>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333561 RCV001188525 |
1302 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574694 RCV000542091 rs1553333561 RCV000708895 CA346761429 |
1302 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215447 rs876661157 RCV001354611 |
1302 | A>missing | Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761437 rs201060668 RCV001189596 |
1303 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1670119651 RCV001208468 |
1304 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572747155 RCV001021421 CA346761439 |
1304 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014661 RCV001354037 RCV000212691 RCV000074947 RCV000986742 rs34625968 RCV000132026 RCV003149724 RCV000524193 |
1304 | R>K | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001344067 RCV002377458 rs34625968 |
1304 | R>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165091 CA014672 rs786202333 |
1304 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001343457 rs34625968 |
1304 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670120604 RCV002375138 RCV001205898 |
1305 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567397 rs1553333583 |
1306 | A>FLLFKRDI | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491137 rs1114167760 RCV001390334 |
1307 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002320229 RCV001035230 rs1670120965 |
1307 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333594 RCV000074948 |
1307 | N>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200629 rs730881808 RCV001041485 CA072291 RCV000567680 |
1307 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001525984 RCV000764436 CA014694 rs730881808 RCV000160700 RCV000530579 |
1307 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001021441 rs1572747272 |
1307 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629765 CA346761460 RCV001766337 RCV002377344 RCV001186971 RCV000547026 CA346761461 rs876659660 |
1307 | N>K | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491228 rs1553333540 CA645369295 |
1307 | N>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759872 CA346761456 RCV001036809 rs730881808 RCV002256494 |
1307 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1670123500 RCV002322161 RCV001246498 |
1308 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343294 rs1670124114 RCV002377454 |
1308 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572747278 RCV000825600 RCV001388972 RCV001358735 |
1309 | P>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333601 CA346761473 RCV003117349 RCV000580869 |
1309 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179799 rs1553333605 RCV000554909 |
1310 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333612 RCV000568294 |
1310 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572746998 RCV001593185 RCV001021371 |
1310 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670125444 RCV001181984 |
1310 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608129 RCV001070583 RCV001548132 RCV000129017 RCV000524194 RCV001804807 CA014716 |
1310 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001045692 rs1670126355 |
1310 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779295 RCV000692457 RCV000074949 RCV000657357 |
1310 | E>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070287 RCV000569784 rs1194990135 CA346761475 |
1310 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491494 RCV001225210 RCV000478927 rs1064793895 |
1311 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670129588 RCV001187505 |
1311 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021464 RCV000703787 RCV003128652 rs774984690 |
1311 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558394093 RCV000707158 RCV002369973 |
1311 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333634 RCV000629856 CA346761488 |
1312 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760190301 RCV000491551 RCV000629708 RCV000486034 RCV001356471 RCV000825625 |
1313 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000589697 RCV001040765 rs1553333635 |
1313 | I>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074951 RCV002371906 RCV000479887 rs267608127 RCV001854285 |
1313 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333654 RCV000630193 |
1313 | I>HI | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761496 rs762115705 RCV001876024 RCV001181310 |
1313 | I>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000630007 rs762115705 RCV000580925 CA072337 |
1313 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001182640 rs1558394171 CA346761494 |
1313 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1670123011 RCV001258051 |
1314 | Q>missing | Lynch syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527181 RCV001197204 rs1553333598 RCV000501467 |
1314 | Q>missing | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698894 RCV000497290 RCV000590196 RCV000160746 rs730881830 RCV001260256 |
1314 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774616 RCV000532398 rs1553333633 |
1314 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759145 RCV000491665 RCV001358303 RCV000074953 rs267608126 RCV000524196 |
1314 | Q>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333584 RCV003150246 RCV000499672 CA645372556 |
1314 | Q>* | Carcinoma of colon Breast and/or ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662525 RCV001021473 RCV000690870 rs1553333670 |
1314 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761501 rs1416452389 RCV000499819 |
1314 | Q>* | Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346761500 RCV001021479 RCV000802917 RCV002271587 rs1416452389 |
1314 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553333599 RCV000491083 RCV000588300 RCV001053878 |
1315 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1166381063 RCV002535555 RCV000776241 CA346761514 |
1315 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346761511 RCV000705856 RCV002369963 rs1558394245 |
1315 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021488 rs1553333674 RCV000629848 |
1316 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759870 rs1558393814 CA913189359 RCV002352270 |
1316 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577296 RCV001184311 rs876661174 RCV000220719 |
1316 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804632 CA346761518 rs876661174 RCV000580361 |
1316 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761515 RCV002354622 CA072354 RCV001205042 RCV000501588 rs773675555 RCV000221062 |
1316 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000491371 rs1114167790 RCV001381431 |
1317 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333682 RCV000569481 |
1317 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463911 RCV000485411 CA072360 RCV000662834 rs759092293 RCV000566983 |
1317 | H>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000820103 RCV000167431 CA014813 rs764786814 |
1317 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1114167790 RCV001175793 |
1318 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002352477 RCV000826178 CA346761526 rs1572747685 |
1318 | R>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002374893 rs1572747685 RCV001048782 |
1318 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068220 rs946147823 RCV002355092 CA46719858 |
1318 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1558394336 RCV000696948 RCV003144535 RCV003163210 |
1319 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217290 rs876660118 |
1319 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333644 RCV000543375 RCV000491067 |
1319 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659383 CA10578170 RCV000223623 RCV000557608 |
1319 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706325 rs876659383 CA346761534 |
1319 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000582334 RCV000549788 RCV000503361 RCV000491256 RCV000704103 RCV001008185 RCV002524137 rs587779297 |
1320 | A>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001804808 RCV000411917 RCV000524198 RCV001354030 RCV000074956 RCV000485556 rs267608120 RCV000215904 |
1320 | A>missing | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202341 RCV001177749 rs1670138558 |
1320 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670139654 RCV001298637 |
1320 | A>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376300764 RCV000690557 CA346761539 |
1320 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001851336 rs1553333615 RCV000491557 CA645369299 |
1320 | A>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000074954 CA014825 RCV000524197 RCV000202115 RCV002280099 rs63750767 RCV000129554 RCV001353638 |
1320 | A>S | Carcinoma of colon Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 3 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001082577 RCV000074958 RCV001355442 RCV000115425 RCV000590664 RCV000148646 RCV000410058 rs41295278 RCV001762181 VAR_038041 RCV000202255 CA014874 |
1321 | R>G | Colorectal cancer, early onset Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16617716 RCV000485042 RCV000812837 rs1064795473 RCV001021535 |
1321 | R>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333700 RCV001383181 RCV000583803 |
1322 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333707 RCV002358383 RCV001249980 CA346761548 COSM288679 RCV001035303 RCV001200630 |
1322 | E>* | Lynch-like syndrome large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000479559 RCV000814519 CA16617717 rs1064794745 RCV001186883 |
1322 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs763608368 RCV000812794 CA346761551 RCV002372284 |
1322 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346761549 rs1553333707 RCV000758616 RCV001021540 |
1322 | E>K | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000491543 rs763608368 CA072394 RCV001856944 |
1322 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002375301 rs1670140478 RCV001246763 |
1323 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886044911 RCV002356397 RCV000351125 RCV000539680 |
1323 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854286 rs587779299 RCV000074960 |
1323 | F>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761557 rs1051564593 RCV001860049 RCV000581020 |
1323 | F>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346761554 rs1572747817 RCV001021543 |
1323 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350960 RCV001021548 RCV001262331 rs1057520473 CA16617718 RCV000480171 |
1323 | F>L | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46719891 RCV000797850 rs1051564593 RCV000759147 RCV000491517 |
1323 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001180516 RCV001875992 rs1572747817 |
1323 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772868 RCV001869089 rs1051564593 CA346761556 |
1323 | F>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853742 RCV002372250 RCV000230591 |
1324 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491496 rs1114167738 RCV001255520 CA346761562 |
1324 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA014920 RCV000115426 RCV000704125 RCV002354292 RCV000409288 rs587779938 |
1324 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001230674 rs540890590 |
1324 | E>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696615 RCV001021557 rs540890590 CA072400 RCV003153811 |
1324 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060502937 RCV002230127 CA16610965 |
1325 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1670146687 RCV001184633 |
1325 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074962 RCV001356372 RCV000627698 RCV000480251 rs587779300 RCV000657124 RCV000129067 RCV000410833 |
1325 | K>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000823442 rs1572747837 |
1325 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000215262 rs876658189 RCV000485930 CA10578172 RCV000697066 |
1325 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10578171 rs876658189 RCV000588179 RCV000547600 RCV001358663 RCV000219276 |
1325 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002557946 rs876658189 RCV001090211 |
1325 | K>T | Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670146869 RCV001214865 |
1326 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA072419 RCV000540030 rs141464646 RCV000164720 RCV000460656 RCV000214174 CA014998 CA346761573 RCV000776348 |
1326 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed ClinVar dbSNP |
|
RCV001753566 CA014973 RCV000167045 CA014964 RCV000707598 RCV000115427 RCV000199655 rs587779939 RCV000774618 |
1326 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346761572 RCV000579957 RCV000527592 RCV001764524 rs757089977 |
1326 | M>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000480936 CA072409 RCV000574295 RCV001348367 rs757089977 |
1326 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs587782326 RCV000131234 RCV000804633 |
1327 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572111 RCV000694347 RCV001584386 rs1553333731 |
1327 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA891843284 RCV000692346 rs1558394104 |
1327 | N>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216522 CA072425 RCV000567812 RCV000630217 rs756216566 RCV001201279 |
1327 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001021575 CA346761576 rs780187989 |
1327 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205455 RCV001711360 CA072431 RCV000519500 rs780187989 RCV000217289 |
1327 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002307506 RCV000571258 RCV000473620 CA16611088 rs756216566 |
1327 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16617719 RCV000775778 RCV000813093 rs587779940 RCV000480465 |
1328 | Q>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000552538 CA346761582 rs587779940 |
1328 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002371944 rs587779940 RCV000115428 CA015017 RCV001042570 |
1328 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608124 RCV000074963 |
1329 | S>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001311190 RCV000115429 RCV000986743 rs199594809 RCV000524202 CA015038 RCV000074965 RCV000212693 RCV001762182 |
1329 | S>L | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553333738 RCV001420827 RCV001358035 RCV000202005 RCV002288734 RCV000168228 RCV000164350 RCV003162687 RCV000826202 |
1330 | L>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524201 RCV000576365 RCV001804809 rs267608121 RCV000131963 RCV000202165 RCV000074964 RCV001357388 |
1330 | L>missing | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574516 rs774395829 RCV000801218 RCV001535785 CA072450 |
1330 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000466998 rs768944975 RCV000775745 RCV001555679 CA16610987 |
1330 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000524203 RCV000410467 COSM293555 RCV000035325 RCV000131743 rs267608094 RCV000202305 RCV002490471 RCV001824584 CA015060 |
1331 | R>* | large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colon cancer Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001036313 CA346761593 rs267608094 RCV001021596 |
1331 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA072455 rs184131049 RCV001046197 RCV000239122 RCV001021599 |
1331 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16617720 RCV000482748 RCV000491185 RCV000707566 rs184131049 RCV000986744 COSM1021316 |
1331 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs786204160 RCV000562088 CA015070 RCV000168161 |
1332 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204160 RCV000629868 CA346761595 |
1332 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021606 rs1572748101 |
1333 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708896 rs1553333753 RCV000986745 RCV000630092 RCV000771471 RCV001800833 |
1334 | R>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779301 RCV000074966 RCV000812861 |
1334 | R>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853255 rs863225418 RCV000491989 RCV000202009 |
1334 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001810439 rs267608122 RCV000219938 CA10578173 RCV000459481 |
1334 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160701 RCV000202090 rs267608122 RCV000576708 RCV001355904 CA015202 RCV000542786 RCV000491705 RCV000074974 |
1334 | R>Q | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015093 RCV000198598 COSM1291512 RCV000163638 RCV000409323 rs773763465 RCV001706075 RCV000657088 |
1334 | R>W | Variant assessed as Somatic; 5.204e-05 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 5 haematopoietic_and_lymphoid_tissue breast Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000409369 RCV001375525 CA015298 rs564434147 RCV000656905 RCV000129804 RCV000204360 RCV000708898 |
1335 | E>A | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) Lynch syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA015307 RCV001800508 RCV000213342 RCV000168100 RCV000663216 rs786204130 |
1335 | E>D | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002298837 RCV001021643 CA346761622 rs1572749872 |
1335 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021559 rs1572747863 |
1336 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558395526 CA346761631 RCV000773566 |
1336 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658497 RCV000688985 RCV000219545 |
1337 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553333981 RCV001779129 RCV001181884 |
1337 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208018 rs1670208407 |
1337 | C>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558395543 RCV000773414 CA346761632 |
1337 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558395566 RCV000688356 |
1338 | L>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574901 rs959068333 |
1338 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs528399386 RCV001043077 |
1339 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344702 rs1670210843 |
1339 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761651 rs1558395603 RCV001021668 RCV000758617 |
1340 | S>G | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553333998 RCV001526019 RCV000629807 |
1340 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000487491 RCV003221423 RCV000470892 rs876661127 |
1340 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670207545 RCV001247087 |
1340 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689212 RCV002352131 CA346761657 rs1558395612 |
1340 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001187217 rs1670212485 |
1341 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327306 rs1670210490 |
1341 | E>G* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792973 RCV002230125 |
1342 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772394 rs1064792973 |
1342 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670213430 RCV001347514 |
1342 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853575 CA10578176 RCV000217058 rs876659515 |
1342 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002352360 RCV000801136 rs1572750047 |
1343 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002485332 CA279821 RCV000202283 RCV000563403 RCV000204963 rs863225420 |
1343 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1670214006 RCV002356952 RCV001224117 |
1343 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772655560 RCV002352328 RCV002501047 RCV000795372 |
1344 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553334019 RCV000630144 CA346761674 |
1344 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761677 RCV001060015 rs1572750070 RCV001021715 |
1344 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211538 rs1670215600 |
1345 | V>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774619 CA072821 RCV000818032 RCV000589495 rs747613376 |
1345 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000203959 RCV000573760 RCV001201374 RCV000986754 rs864622703 |
1345 | V>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209545 rs1456961917 |
1346 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761688 RCV001524411 RCV000821911 rs1456961917 |
1346 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001185349 rs1670216397 |
1347 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015325 RCV001798555 RCV000576090 RCV000663168 RCV000160703 RCV000766290 RCV000229406 rs730881809 |
1347 | A>P | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000630206 RCV001021738 RCV001354879 rs1449733937 CA346761700 RCV000764437 RCV001775930 |
1348 | E>A | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000167175 CA015340 RCV000803004 rs786203740 RCV002265650 |
1348 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1670216733 RCV002320321 RCV001063002 |
1348 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061608 rs1449733937 |
1348 | E>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670217544 RCV001347758 |
1349 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670218093 RCV001204631 |
1350 | V>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002530754 RCV000580735 CA072830 rs772707858 |
1350 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000822710 RCV002319917 rs1325140069 CA346761719 |
1351 | H>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1558395737 RCV001325408 |
1351 | H>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761720 RCV000561237 RCV000686398 RCV003133381 rs1325140069 |
1351 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002325380 RCV000691090 rs1558395737 CA346761717 |
1351 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346761723 RCV000564537 RCV000630000 rs587782309 |
1352 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015349 RCV000131202 rs587782309 |
1352 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553334048 RCV001036080 |
1353 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001191510 rs1670220532 |
1353 | L>QL | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129223 RCV001775618 rs267608140 RCV000204246 CA015365 |
1354 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA015357 VAR_043974 rs267608140 |
1354 | L>Q | CRC and LYNCH5; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV000482736 CA339279 rs863224627 RCV000200387 RCV001021786 |
1355 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000164648 rs1553334056 RCV001354554 RCV000548864 RCV001193725 |
1356 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000074985 rs267608141 |
1356 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs192740549 RCV000212694 RCV000160704 RCV000662520 CA015417 RCV000168081 |
1356 | L>F | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1226221560 RCV000630235 CA346761745 RCV000777010 |
1356 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001021795 RCV000798925 RCV001823166 rs55740729 |
1357 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572750348 RCV000807229 |
1357 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304329 rs1670225485 |
1357 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781301 RCV000129012 |
1357 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553334057 RCV000131198 |
1357 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180265 RCV001875982 rs1670211088 |
1357 | I>LVKGQL* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346761756 RCV000629772 rs1553334107 RCV002325196 |
1357 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1209834047 CA346761753 RCV000793115 COSM1257982 |
1357 | I>N | oesophagus Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1209834047 RCV001176904 CA346761755 RCV000695235 |
1357 | I>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001081385 RCV000677891 RCV000772293 RCV003149727 RCV000121569 RCV000074986 RCV001093695 rs55740729 RCV000115430 RCV000587315 |
1358 | K>D* | Breast and/or ovarian cancer Lynch syndrome 1 Sigmoid colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA072859 CA346761763 rs759392159 RCV001021811 |
1358 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553334099 RCV000549236 |
1358 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1670226421 RCV001305463 RCV001176213 |
1358 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199739099 RCV002478558 RCV000172815 CA015447 |
1358 | K>E | Lynch syndrome 1 Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002286747 CA346761761 RCV000525186 RCV000776705 rs1553334111 |
1358 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM13397 rs267608081 CA46720457 RCV002325522 RCV000797324 |
1359 | E>* | Hereditary cancer-predisposing syndrome endometrium Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs267608081 RCV000131235 RCV000691220 CA015469 RCV000656576 |
1359 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781746 RCV000129951 |
1360 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703204 RCV000708899 rs1553334006 RCV000572669 RCV000485302 CA16617726 |
1360 | L>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553334041 RCV000808172 RCV002323832 RCV000485715 |
1360 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171951 RCV000475931 RCV001188702 RCV000215479 rs765313977 RCV000410822 |
1361 | L>= | Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572750549 RCV001178835 RCV000985850 |
1361 | L>= | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553334124 RCV002063940 RCV001805208 RCV000612934 CA658795769 |
1361 | L>= | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021829 rs1572750569 |
1361 | L>= | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343973 RCV001284185 RCV000196781 rs863224830 CA336708 RCV002321800 |
1361 | L>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs575068534 RCV000409633 RCV000455433 RCV000766291 RCV000131760 RCV000205723 RCV002498647 |
1361 | L>I | Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192453 CA16610990 RCV001021826 RCV000465866 rs1060502898 |
1361 | L>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064794082 RCV003159071 RCV001176850 RCV000689309 |
1361 | L>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs907892681 CA46720482 RCV000542178 |
1361 | L>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA072869 RCV000694136 rs765098678 RCV000486271 RCV000562452 |
1361 | L>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000217184 rs587782547 RCV001854756 |
1361 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629685 CA346761781 rs1553334125 |
1361 | L>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201042 CA346734475 |
4 | Q>E | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs532585602 CA067765 |
5 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346734491 rs1572697743 |
6 | T>S | No |
ClinGen Ensembl |
|
|
CA068788 rs781670952 |
8 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA069791 rs773861137 |
10 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765459817 CA073114 |
18 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA073139 rs63750664 |
20 | A>D | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1439274983 CA346734565 |
20 | A>P | No |
ClinGen gnomAD |
|
|
CA346734574 rs1060502897 |
22 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757622849 CA073447 |
26 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469162224 CA346734809 |
29 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756589186 CA073511 |
29 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs963847218 CA46687867 |
30 | E>G | No |
ClinGen TOPMed |
|
|
rs963847218 CA346734815 |
30 | E>V | No |
ClinGen TOPMed |
|
|
RCV000160707 rs730881811 CA016727 |
33 | R>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA346734829 rs878853751 |
33 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346734840 rs776547943 |
35 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA067311 rs757957751 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346734877 RCV000985822 rs34014629 |
42 | P>T | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA067436 rs770678180 |
43 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA067449 rs781203386 |
43 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346734915 rs1168451622 |
47 | D>V | No |
ClinGen gnomAD |
|
|
CA067712 rs775498550 |
49 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA067694 rs745642001 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587779924 CA346735120 |
81 | A>G | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA346735126 rs1190756871 |
82 | P>L | No |
ClinGen TOPMed |
|
|
RCV000657329 rs1553408413 |
86 | T>missing | No |
ClinVar dbSNP |
|
|
CA346735184 rs1064793939 |
87 | S>G | No |
ClinGen gnomAD |
|
|
CA346735189 rs1114167734 |
87 | S>N | No |
ClinGen Ensembl |
|
|
rs1060502911 CA346736439 |
88 | C>S | No |
ClinGen gnomAD |
|
|
CA10578031 rs876659648 |
92 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 93 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752680756 CA069810 |
97 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1036107512 CA46697252 |
98 | A>V | No |
ClinGen Ensembl |
|
|
rs1572708612 CA346736778 |
102 | G>V | No |
ClinGen Ensembl |
|
|
CA071825 rs774303198 |
122 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765060096 CA346737067 |
131 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs587779298 CA014853 |
132 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 134 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346737125 rs1443147770 |
139 | T>K | No |
ClinGen TOPMed |
|
|
rs1324188451 CA346737151 |
143 | V>A | No |
ClinGen TOPMed |
|
|
rs1324188451 CA346737152 |
143 | V>G | No |
ClinGen TOPMed |
|
|
RCV000217205 rs876661110 RCV001175470 CA10577253 |
143 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs63750525 CA015532 |
147 | L>H | No |
ClinGen Ensembl |
|
|
CA072891 rs757311007 |
150 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA346738555 rs1251899870 |
153 | G>D | No |
ClinGen Ensembl |
|
|
rs1553411392 RCV000480263 |
158 | E>missing | No |
ClinVar dbSNP |
|
|
rs568685193 CA073054 |
164 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774162322 CA46703251 |
168 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761721805 CA073086 |
169 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 178 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441208044 CA346738732 |
182 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 188 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553411462 RCV000507357 |
189 | K>missing | No |
ClinVar dbSNP |
|
|
CA073130 rs375757570 |
192 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46703368 rs375757570 |
192 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46703391 rs78939940 |
196 | C>F | No |
ClinGen Ensembl |
|
|
rs587779945 RCV000115436 |
201 | E>missing | No |
ClinVar dbSNP |
|
|
rs1387614369 CA346738889 |
206 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA073166 rs747477669 |
209 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs936063254 CA46706479 |
210 | V>I | No |
ClinGen Ensembl |
|
|
rs876659637 CA346739232 |
212 | T>R | No |
ClinGen TOPMed |
|
|
rs773111311 CA073277 |
214 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA346739313 rs587779315 |
218 | K>E | No |
ClinGen Ensembl |
|
|
CA346739318 rs1424687439 |
218 | K>R | No |
ClinGen gnomAD |
|
|
rs763060788 CA073307 |
219 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1553412090 RCV000657529 |
221 | E>missing | No |
ClinVar dbSNP |
|
|
rs778236337 CA073338 |
226 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1064793553 RCV000486317 |
227 | S>missing | No |
ClinVar dbSNP |
|
|
rs730881826 RCV000160742 |
235 | T>missing | No |
ClinVar dbSNP |
|
|
CA346739997 rs587782510 |
238 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769962086 CA073379 |
241 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs267608066 CA346740033 |
244 | Q>E | No |
ClinGen Ensembl |
|
|
CA346740038 rs1444288153 |
244 | Q>R | No |
ClinGen gnomAD |
|
|
CA346740052 rs1246977317 |
245 | I>K | No |
ClinGen gnomAD |
|
| rs267608041 | 247 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767828930 CA073407 |
247 | K>Q | No |
ClinGen ExAC gnomAD |
|
| rs267608041 | 248 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752135996 CA073430 |
249 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM33664 rs63749890 CA46706746 |
265 | F>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA346740316 rs1465978233 |
266 | K>R | No |
ClinGen gnomAD |
|
|
rs1408734939 CA346740331 |
267 | P>L | No |
ClinGen gnomAD |
|
|
RCV000483641 CA16617637 rs587779948 |
273 | G>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA073476 rs774586054 |
275 | S>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000220402 rs876661292 CA10577260 |
279 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346740484 rs1245764606 |
279 | S>R | No |
ClinGen gnomAD |
|
|
rs1229666565 CA346740510 |
281 | G>R | No |
ClinGen gnomAD |
|
|
CA346740534 rs1432121934 |
283 | G>R | No |
ClinGen gnomAD |
|
|
CA346740554 rs1285950430 |
284 | D>V | No |
ClinGen gnomAD |
|
|
RCV000485446 rs1553412289 |
285 | S>missing | No |
ClinVar dbSNP |
|
|
rs1553412294 RCV000657286 |
289 | G>missing | No |
ClinVar dbSNP |
|
|
CA346740656 rs1468651245 COSM1614882 |
292 | S>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 293 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346740689 rs765237563 |
298 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777302246 CA073592 |
310 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1064793185 RCV000478431 RCV000490670 |
318 | E>missing | No |
ClinVar dbSNP |
|
|
CA46707098 rs532920165 |
319 | T>A | No |
ClinGen 1000Genomes |
|
|
rs754879198 CA073647 |
320 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA346740911 COSM403749 rs1472853525 |
321 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs772126419 CA073662 |
322 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1471336509 CA346740928 |
323 | T>S | No |
ClinGen gnomAD |
|
|
CA073698 rs776080024 |
332 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281919828 CA346741170 |
334 | K>Q | No |
ClinGen TOPMed |
|
|
rs1558660066 RCV000780473 CA346741177 |
334 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761231126 CA067016 |
335 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs587782102 CA346741244 |
336 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766202031 CA346741347 |
341 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730881786 RCV000160661 CA007895 |
351 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346741589 rs1465861885 |
353 | S>N | No |
ClinGen TOPMed |
|
|
rs1336935881 CA346741643 |
356 | G>S | No |
ClinGen gnomAD |
|
|
rs1558660372 CA346741687 |
357 | D>G | No |
ClinGen Ensembl |
|
|
rs771529531 CA16617641 RCV000479763 |
357 | D>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1278591662 CA346741734 |
359 | S>T | No |
ClinGen gnomAD |
|
|
CA46707358 rs145994565 |
360 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA067137 rs759359754 |
362 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346741848 rs1437629945 |
364 | V>L | No |
ClinGen TOPMed |
|
|
CA346741875 rs1272484865 |
365 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 374 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 378 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 378 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 389 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286659745 CA346742282 |
389 | P>S | No |
ClinGen gnomAD |
|
|
RCV000485806 rs1064795790 |
400 | E>missing | No |
ClinVar dbSNP |
|
|
CA346743399 rs1396658541 |
400 | E>* | No |
ClinGen TOPMed |
|
|
rs768740986 RCV001284013 |
404 | N>T | No |
ClinVar dbSNP |
|
| rs1114167691 | 405 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767404845 CA067374 |
408 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA346743688 rs587781508 |
412 | K>R | No |
ClinGen gnomAD |
|
|
CA46707789 rs1007311950 |
414 | W>C | No |
ClinGen TOPMed |
|
|
CA346743852 rs1251033858 |
418 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346743928 rs1363957491 |
420 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 426 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207702287 CA346744079 |
426 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 431 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346744194 RCV000759843 rs1558661244 |
431 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000202043 rs863225399 |
438 | M>missing | No |
ClinVar dbSNP |
|
|
rs1558661333 CA346744385 |
438 | M>R | No |
ClinGen Ensembl |
|
|
CA346744406 rs786202363 |
439 | D>V | No |
ClinGen gnomAD |
|
|
rs369709529 CA067492 |
447 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346744650 rs1064794705 |
450 | V>G | No |
ClinGen Ensembl |
|
|
CA46707941 rs878993430 |
450 | V>I | No |
ClinGen Ensembl |
|
|
rs780734507 CA067532 COSM3407879 |
452 | M>V | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745391760 CA067540 |
453 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346744774 rs1386737742 |
454 | G>A | No |
ClinGen gnomAD |
|
|
CA16617650 rs1064793186 RCV000485848 |
455 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA067556 rs748847338 |
460 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346745022 rs876658726 |
462 | P>S | No |
ClinGen gnomAD |
|
|
CA067598 rs772123097 |
471 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs61754782 CA46708042 |
475 | Q>H | No |
ClinGen Ensembl |
|
|
CA346745473 rs1251859821 |
477 | G>C | No |
ClinGen gnomAD |
|
|
rs1201556163 CA346745566 |
479 | K>R | No |
ClinGen gnomAD |
|
|
rs776959327 CA067704 |
488 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759643679 CA067724 |
491 | M>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001200626 rs267608046 |
493 | E>K | No |
ClinVar dbSNP |
|
|
rs876661044 RCV000214314 |
501 | H>missing | No |
ClinVar dbSNP |
|
|
rs773303940 CA067808 |
511 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1060502908 CA346746582 |
513 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs587779213 CA008765 |
516 | I>N | No |
ClinGen Ensembl |
|
|
rs149159527 CA067826 |
521 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776567082 CA067835 |
522 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA46708355 rs887409964 |
524 | Y>H | No |
ClinGen TOPMed |
|
|
CA067856 rs765387680 |
525 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 530 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46708454 rs63750870 |
538 | Y>* | No |
ClinGen Ensembl |
|
|
CA346747027 rs1365012099 |
538 | Y>H | No |
ClinGen gnomAD |
|
|
RCV001175088 rs1669354962 |
544 | E>V | No |
ClinVar dbSNP |
|
|
CA346747191 rs373554374 |
546 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558662428 CA346747266 |
550 | S>A | No |
ClinGen Ensembl |
|
|
rs1042131614 CA346747480 |
561 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 562 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs864622153 CA346747525 |
564 | S>L | No |
ClinGen gnomAD |
|
|
CA346747530 rs1168297520 |
565 | L>V | No |
ClinGen gnomAD |
|
|
rs1572724086 CA346748533 RCV000985826 |
568 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs758118126 CA068037 |
568 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs758118126 CA068043 |
568 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs757006198 CA068053 |
571 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553413138 RCV000657312 |
588 | H>missing | No |
ClinVar dbSNP |
|
|
CA009165 rs267608045 |
591 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 598 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 598 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000657686 CA346749316 rs756043669 RCV000507042 |
599 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1238126377 CA346749369 |
603 | K>* | No |
ClinGen TOPMed |
|
|
rs1188095395 CA346749372 |
603 | K>M | No |
ClinGen TOPMed |
|
|
rs780167298 CA068168 |
605 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA346749461 rs201613780 |
608 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346749737 rs1411268654 |
618 | Q>E | No |
ClinGen gnomAD |
|
|
CA068201 rs747576518 |
618 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs63750462 CA068212 |
623 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA346749882 rs63750462 |
623 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA068231 rs773927995 |
625 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346750045 rs1159989759 |
631 | S>C | No |
ClinGen gnomAD |
|
|
rs755847154 CA346750052 |
632 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1669391378 RCV001269784 |
637 | L>missing | No |
ClinVar dbSNP |
|
|
CA346750193 rs1303026707 |
638 | L>F | No |
ClinGen gnomAD |
|
|
rs1483259210 CA346750234 |
639 | E>G | No |
ClinGen TOPMed |
|
|
rs1064795591 CA346750393 |
645 | E>K | No |
ClinGen TOPMed |
|
|
rs965228819 CA46709970 |
648 | S>G | No |
ClinGen gnomAD |
|
|
rs777799551 CA068295 |
649 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA068315 rs746352186 |
651 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA346750652 rs1333555322 |
665 | E>K | No |
ClinGen gnomAD |
|
|
rs760494271 CA068338 |
666 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000481527 rs1064794028 |
667 | D>missing | No |
ClinVar dbSNP |
|
|
CA46710117 rs923709484 |
668 | S>F | No |
ClinGen Ensembl |
|
|
CA346750676 rs1197355399 |
669 | I>M | No |
ClinGen gnomAD |
|
|
rs1064795598 CA346750703 |
674 | G>A | No |
ClinGen Ensembl |
|
|
CA16617664 rs1064795598 RCV000480051 |
674 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346750724 rs751778243 |
678 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA068396 rs781668793 |
679 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA346750780 rs1201347192 |
688 | V>F | No |
ClinGen gnomAD |
|
|
CA068436 rs730881794 |
690 | Y>S | No |
ClinGen ExAC |
|
| rs267608083 | 693 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs63750832 CA009668 |
698 | Q>K | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA346750880 rs1553413470 RCV000581995 |
699 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA068474 rs370237509 |
704 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558664335 CA913190111 |
708 | E>* | No |
ClinGen Ensembl |
|
|
rs750817344 CA068483 |
710 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371414784 CA46710394 |
712 | L>S | No |
ClinGen Ensembl |
|
|
rs1344588756 CA346751078 |
715 | D>N | No |
ClinGen gnomAD |
|
| rs786204048 | 716 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46710456 rs1003027504 |
718 | S>C | No |
ClinGen Ensembl |
|
|
rs1312413528 CA346751127 |
719 | T>S | No |
ClinGen gnomAD |
|
|
rs1258419289 CA346751134 |
720 | T>P | No |
ClinGen gnomAD |
|
|
rs770584242 CA068517 |
721 | R>S | No |
ClinGen ExAC |
|
|
CA068539 rs587779922 |
724 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs63750136 CA009813 |
726 | F>S | No |
ClinGen Ensembl |
|
|
rs761930694 CA068559 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769668640 CA346752450 |
741 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 744 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1669440639 RCV001193730 |
754 | T>N | No |
ClinVar dbSNP |
|
|
CA346752808 rs1380006437 |
756 | G>E | No |
ClinGen gnomAD |
|
|
CA346752885 rs1204279922 |
760 | E>D | No |
ClinGen gnomAD |
|
|
RCV001200627 rs1060502913 |
763 | D>A | No |
ClinVar dbSNP |
|
|
CA10654940 rs561198849 |
764 | T>S | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA068780 rs774452933 |
767 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773162893 COSM721726 CA068802 |
768 | P>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1064793871 CA16617671 RCV000483513 |
773 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1276682605 CA346753370 |
778 | L>I | No |
ClinGen gnomAD |
|
|
CA010064 rs63749899 |
780 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs886041913 RCV000377574 |
791 | R>missing | No |
ClinVar dbSNP |
|
|
CA346753734 rs1478983658 |
793 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 795 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265121267 CA346753925 |
801 | V>L | No |
ClinGen TOPMed |
|
|
CA069001 rs587779923 |
807 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346754015 rs1434578765 |
808 | V>F | No |
ClinGen Ensembl |
|
|
CA346754019 rs1446543957 |
809 | V>I | No |
ClinGen gnomAD |
|
|
CA1649447 rs766653592 |
810 | E>* | No |
ClinGen ExAC |
|
|
rs764516652 CA069052 |
810 | E>V | No |
ClinGen ExAC |
|
|
CA346754042 rs1198423647 |
813 | K>Q | No |
ClinGen gnomAD |
|
|
rs1064793190 CA346754048 |
814 | K>E | No |
ClinGen gnomAD |
|
|
CA10577274 RCV000221553 rs876661204 |
820 | R>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 824 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346754223 rs1396036269 |
832 | L>Q | No |
ClinGen TOPMed |
|
|
CA346754542 rs1407456778 |
848 | T>I | No |
ClinGen gnomAD |
|
|
CA346754604 rs1114167796 |
852 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 853 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 855 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346754725 rs368437140 |
857 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346754957 rs1395549583 |
869 | C>Y | No |
ClinGen gnomAD |
|
|
CA346755076 rs1453201546 |
877 | E>D | No |
ClinGen gnomAD |
|
|
CA346755088 rs1558666053 |
879 | A>T | No |
ClinGen Ensembl |
|
|
CA069391 rs371399245 |
880 | D>E | No |
ClinGen ESP ExAC |
|
| TCGA novel | 882 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346755153 rs1558666098 |
883 | K>N | No |
ClinGen Ensembl |
|
|
RCV000484062 rs1553413985 |
889 | Q>missing | No |
ClinVar dbSNP |
|
|
rs756933423 CA069415 |
891 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553414010 RCV000508138 |
896 | K>missing | No |
ClinVar dbSNP |
|
|
CA069444 rs755215367 |
897 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA346755312 rs1263132199 |
899 | E>D | No |
ClinGen gnomAD |
|
|
rs1060502919 RCV000482276 CA16617683 |
903 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346755333 rs1432796866 |
903 | P>S | No |
ClinGen gnomAD |
|
|
rs1379402512 CA346755335 |
904 | D>H | No |
ClinGen gnomAD |
|
|
RCV000657427 rs1553414058 |
909 | L>missing | No |
ClinVar dbSNP |
|
|
CA069547 TCGA novel rs768356593 |
909 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA346755366 rs876659785 |
909 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 913 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 916 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA069586 rs753967199 |
917 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs587779246 CA346755447 |
922 | R>G | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA346755846 rs1161502314 |
949 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 956 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057520440 CA346756025 |
960 | N>K | No |
ClinGen gnomAD |
|
|
CA069795 rs746839832 |
968 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA346756127 rs1348956744 |
969 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 971 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346756209 rs1356451622 |
979 | L>M | No |
ClinGen gnomAD |
|
|
rs1218426245 CA346756211 |
979 | L>Q | No |
ClinGen gnomAD |
|
|
RCV000223149 CA10577282 rs876661170 |
981 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA069907 rs761938225 |
992 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346756359 rs1431702414 |
994 | Y>F | No |
ClinGen gnomAD |
|
|
CA069915 rs373622047 |
994 | Y>H | No |
ClinGen ESP ExAC |
|
|
CA069932 rs777257986 |
999 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA16617689 rs1064794488 RCV000486659 |
999 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777257986 CA346756387 |
999 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA346756388 rs777257986 |
999 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs756868452 CA069953 |
1000 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA16617690 rs1064794070 RCV000486945 |
1002 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA46712688 rs893666681 |
1003 | C>R | No |
ClinGen Ensembl |
|
|
rs587779253 RCV001755435 CA011375 |
1007 | W>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA069968 rs780187287 |
1009 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA346756450 rs587781593 |
1009 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969175054 CA46712864 |
1025 | R>S | No |
ClinGen gnomAD |
|
|
rs267608054 RCV000218977 CA10577284 |
1026 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA070029 rs765671474 |
1029 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1177250625 CA346756586 |
1031 | D>E | No |
ClinGen gnomAD |
|
|
CA070035 rs751035257 |
1033 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs748211741 CA070077 |
1036 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1558668208 CA346756641 |
1041 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1042 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000657393 rs1553414544 |
1045 | K>missing | No |
ClinVar dbSNP |
|
|
CA346756697 rs1173733811 CA346756696 |
1048 | Q>H | No |
ClinGen TOPMed |
|
|
CA346756703 COSM94733 rs1395294066 |
1049 | S>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 1049 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346756719 rs761277966 |
1052 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA070111 rs765763906 |
1052 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1056 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346756749 rs1553414599 RCV000588548 |
1057 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778741297 CA070160 |
1057 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs863225404 CA346756750 |
1058 | D>N | No |
ClinGen Ensembl |
|
|
CA46715732 rs182292083 |
1059 | V>A | No |
ClinGen 1000Genomes |
|
|
CA346757817 rs1249506770 |
1059 | V>L | No |
ClinGen TOPMed |
|
|
rs63749843 CA46715775 |
1068 | R>G | No |
ClinGen TOPMed |
|
|
CA346757909 rs587782194 |
1070 | G>S | No |
ClinGen gnomAD |
|
|
CA070397 rs142254875 |
1073 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1074 | M>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000657476 rs1553331304 |
1076 | R>missing | No |
ClinVar dbSNP |
|
|
rs770635149 CA070436 |
1080 | L>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000587493 rs1553331335 CA346758079 |
1080 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763844573 CA070467 |
1083 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775248712 CA070556 |
1088 | F>C | No |
ClinGen ExAC gnomAD |
|
| rs267608078 | 1088 | F>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060502917 | 1088 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs267608078 | 1088 | F>L | Variant assessed as Somatic; 9.264e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs267608078 | 1088 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000414406 rs1553331434 |
1090 | E>missing | No |
ClinVar dbSNP |
|
|
rs967439058 CA46715947 |
1092 | K>E | No |
ClinGen Ensembl |
|
|
CA070571 rs774147100 |
1094 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs760861610 CA070594 |
1096 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335712213 CA346758512 |
1101 | K>E | No |
ClinGen gnomAD |
|
|
CA070628 rs758782048 |
1102 | T>P | No |
ClinGen ExAC gnomAD |
|
| rs267608092 | 1104 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs267608092 | 1105 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189795764 CA346758650 |
1106 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1112 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA012619 rs587782562 |
1112 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1112 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41295272 CA46716028 |
1113 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1119 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776589986 CA070725 |
1121 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1572735859 CA346758787 |
1122 | Q>R | No |
ClinGen Ensembl |
|
|
rs1190499576 CA346758834 |
1129 | C>Y | No |
ClinGen gnomAD |
|
|
RCV000160694 CA012749 rs730881805 |
1133 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA46716126 rs63750969 |
1140 | K>R | No |
ClinGen Ensembl |
|
|
RCV000657373 rs1553331760 |
1141 | S>missing | No |
ClinVar dbSNP |
|
|
CA012939 rs63750257 |
1148 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768792513 CA070960 |
1149 | L>* | No |
ClinGen ExAC |
|
|
CA346760054 rs1572738445 |
1155 | Q>P | No |
ClinGen Ensembl |
|
|
CA071013 rs752212361 |
1157 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs879040298 CA46716998 |
1158 | C>F | No |
ClinGen Ensembl |
|
|
rs751190199 CA071026 |
1161 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs63750252 CA46717025 |
1163 | E>G | Colorectal cancer, hereditary nonpolyposis, type 5 (hnpcc5) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
RCV000657521 rs1553332228 |
1170 | I>missing | No |
ClinVar dbSNP |
|
|
CA346760270 rs1376983554 |
1184 | M>I | No |
ClinGen gnomAD |
|
|
RCV000657432 rs1553332639 |
1188 | S>missing | No |
ClinVar dbSNP |
|
|
CA071407 rs778651272 |
1190 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1191 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1669959178 RCV001174615 |
1192 | V>L | No |
ClinVar dbSNP |
|
|
CA346760504 rs63751328 |
1193 | E>Q | No |
ClinGen gnomAD |
|
|
rs1669960668 RCV001268608 |
1194 | L>missing | No |
ClinVar dbSNP |
|
|
CA346760525 COSM1021303 rs75095286 RCV001001256 |
1196 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75095286 CA46717430 |
1196 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA071439 rs531169741 |
1197 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346760534 rs1298129961 |
1197 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1206 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA071493 rs773068287 |
1206 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs759216143 CA071520 |
1210 | V>L | No |
ClinGen ExAC gnomAD |
|
| VAR_004491 | 1213 | D>V | No | UniProt | |
|
rs63750914 CA46717466 |
1214 | E>A | No |
ClinGen Ensembl |
|
|
CA915943964 rs1572742114 RCV001008877 |
1216 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA071782 rs770329467 |
1216 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1218 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA071792 rs776407427 |
1218 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs587782117 CA071852 |
1230 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1670049545 RCV001093451 |
1245 | F>LKCRTLF | No |
ClinVar dbSNP |
|
|
RCV001201191 rs786204182 |
1247 | T>I | No |
ClinVar dbSNP |
|
|
rs1313332429 CA346761058 |
1248 | H>R | No |
ClinGen TOPMed |
|
|
rs187491488 CA071959 |
1253 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346761104 rs1572745077 |
1254 | E>V | No |
ClinGen Ensembl |
|
|
rs863225413 RCV000202217 |
1254 | E>* | No |
ClinVar dbSNP |
|
|
rs1212096393 CA346761114 |
1255 | D>E | No |
ClinGen gnomAD |
|
|
rs63750673 CA46719493 VAR_004492 |
1260 | V>I | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs786202696 CA346761178 |
1264 | L>V | No |
ClinGen gnomAD |
|
|
rs754469538 CA46719541 |
1265 | G>R | No |
ClinGen Ensembl |
|
|
CA072018 rs760023025 |
1266 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379181416 CA346761217 |
1269 | C>R | No |
ClinGen gnomAD |
|
|
CA072180 rs770929545 |
1271 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775752224 RCV000825375 CA346761275 |
1277 | D>E | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA915943980 rs1572746634 |
1283 | I>* | No |
ClinGen Ensembl |
|
|
CA346761304 rs1180903149 |
1283 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1553333377 RCV000657316 |
1284 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000201980 rs863225414 |
1285 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000202125 rs863225415 |
1286 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1286 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346761352 rs1393668821 |
1290 | I>T | No |
ClinGen TOPMed |
|
|
rs1553333435 CA645369294 |
1291 | K>N | No |
ClinGen Ensembl |
|
|
CA072242 rs764835191 |
1293 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs201060668 CA072279 |
1303 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA46719773 rs63751064 COSM13341 |
1303 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1572747149 RCV000591955 |
1305 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000759871 rs1558393913 |
1310 | E>missing | No |
ClinVar dbSNP |
|
|
rs749522534 CA072313 |
1311 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143331529 CA072317 |
1311 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs863225417 RCV000202018 CA279679 |
1314 | Q>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759092293 RCV000985849 CA346761520 |
1317 | H>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
rs1553333690 RCV000657820 |
1318 | R>* | No |
ClinVar dbSNP |
|
|
rs376300764 CA46719870 |
1320 | A>S | No |
ClinGen ESP |
|
|
CA014883 rs267608125 |
1321 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1323 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346761563 rs1114167738 |
1324 | E>G | No |
ClinGen gnomAD |
|
|
CA346761628 rs771181616 |
1336 | V>F | No |
ClinGen ExAC |
|
|
CA072783 rs771181616 |
1336 | V>I | No |
ClinGen ExAC |
|
|
CA346761641 rs1060504743 |
1338 | L>V | No |
ClinGen Ensembl |
|
|
rs1553333996 RCV000486914 |
1339 | A>* | No |
ClinVar dbSNP |
|
|
CA072803 rs528399386 |
1339 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770359323 CA072808 |
1341 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA072813 rs774012741 |
1342 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs374649126 CA072825 |
1346 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1456961917 CA346761689 |
1346 | D>V | No |
ClinGen gnomAD |
|
|
RCV000604180 rs1553334033 |
1352 | K>missing | No |
ClinVar dbSNP |
|
|
CA346761733 rs56238300 RCV000585943 |
1353 | L>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs56238300 CA072834 |
1353 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1163319634 CA769469018 |
1356 | L>* | No |
ClinGen TOPMed |
|
|
CA346761747 rs1289627423 |
1356 | L>S | No |
ClinGen gnomAD |
|
|
CA532705590 rs1457661483 |
1357 | I>T | No |
ClinGen gnomAD |
|
|
CA346761754 rs1209834047 |
1357 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA015459 RCV000034500 rs386833407 |
1359 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
4 associated diseases with P52701
[MIM: 614350]: Hereditary non-polyposis colorectal cancer 5 (HNPCC5)
An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria
[MIM: 608089]: Endometrial cancer (ENDMC)
A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000269|PubMed:11153917, ECO:0000269|PubMed:14961575}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 619097]: Mismatch repair cancer syndrome 3 (MMRCS3)
An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. {ECO:0000269|PubMed:17557300}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 114500]: Colorectal cancer (CRC)
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:10413423, ECO:0000269|PubMed:10537275, ECO:0000269|PubMed:10699937, ECO:0000269|PubMed:11153917, ECO:0000269|PubMed:11470537, ECO:0000269|PubMed:11709755, ECO:0000269|PubMed:11807791, ECO:0000269|PubMed:12522549, ECO:0000269|PubMed:14520694, ECO:0000269|PubMed:14961575, ECO:0000269|PubMed:15483016, ECO:0000269|PubMed:22102614}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria
- A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000269|PubMed:11153917, ECO:0000269|PubMed:14961575}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. {ECO:0000269|PubMed:17557300}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:10413423, ECO:0000269|PubMed:10537275, ECO:0000269|PubMed:10699937, ECO:0000269|PubMed:11153917, ECO:0000269|PubMed:11470537, ECO:0000269|PubMed:11709755, ECO:0000269|PubMed:11807791, ECO:0000269|PubMed:12522549, ECO:0000269|PubMed:14520694, ECO:0000269|PubMed:14961575, ECO:0000269|PubMed:15483016, ECO:0000269|PubMed:22102614}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
6 regional properties for P52701
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PWWP domain | 90 - 183 | IPR000313 |
| domain | DNA mismatch repair protein MutS, C-terminal | 1127 - 1323 | IPR000432 |
| domain | DNA mismatch repair protein MutS-like, N-terminal | 407 - 524 | IPR007695 |
| domain | DNA mismatch repair protein MutS, core | 739 - 1102 | IPR007696 |
| domain | DNA mismatch repair protein MutS, connector domain | 538 - 699 | IPR007860 |
| domain | DNA mismatch repair protein MutS, clamp | 932 - 1024 | IPR007861 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| MutSalpha complex | A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| ATP-dependent DNA damage sensor activity | A molecule that recognises toxic DNA structures, and initiates a signalling response, driven by ATP hydrolysis. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| damaged DNA binding | Binding to damaged DNA. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| guanine/thymine mispair binding | Binding to a double-stranded DNA region containing a G/T mispair. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| mismatched DNA binding | Binding to a double-stranded DNA region containing one or more mismatches. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| determination of adult lifespan | The pathways that regulate the duration of the adult phase of the life-cycle of an animal. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| intrinsic apoptotic signaling pathway in response to DNA damage | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| isotype switching | The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
| meiotic mismatch repair | A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules. Correction of the mismatch can result in non-Mendelian segregation of alleles following meiosis. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| negative regulation of DNA recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
| positive regulation of helicase activity | Any process that activates or increases the activity of a helicase. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| somatic hypermutation of immunoglobulin genes | Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
| somatic recombination of immunoglobulin gene segments | The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20585 | MSH3 | DNA mismatch repair protein Msh3 | Homo sapiens (Human) | PR |
| P43246 | MSH2 | DNA mismatch repair protein Msh2 | Homo sapiens (Human) | PR |
| O43196 | MSH5 | MutS protein homolog 5 | Homo sapiens (Human) | PR |
| Q9SMV7 | MSH7 | DNA mismatch repair protein MSH7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04716 | MSH6 | DNA mismatch repair protein MSH6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRQSTLYSF | FPKSPALSDA | NKASARASRE | GGRAAAAPGA | SPSPGGDAAW | SEAGPGPRPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARSASPPKAK | NLNGGLRRSV | APAAPTSCDF | SPGDLVWAKM | EGYPWWPCLV | YNHPFDGTFI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REKGKSVRVH | VQFFDDSPTR | GWVSKRLLKP | YTGSKSKEAQ | KGGHFYSAKP | EILRAMQRAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EALNKDKIKR | LELAVCDEPS | EPEEEEEMEV | GTTYVTDKSE | EDNEIESEEE | VQPKTQGSRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSRQIKKRRV | ISDSESDIGG | SDVEFKPDTK | EEGSSDEISS | GVGDSESEGL | NSPVKVARKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRMVTGNGSL | KRKSSRKETP | SATKQATSIS | SETKNTLRAF | SAPQNSESQA | HVSGGGDDSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RPTVWYHETL | EWLKEEKRRD | EHRRRPDHPD | FDASTLYVPE | DFLNSCTPGM | RKWWQIKSQN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FDLVICYKVG | KFYELYHMDA | LIGVSELGLV | FMKGNWAHSG | FPEIAFGRYS | DSLVQKGYKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ARVEQTETPE | MMEARCRKMA | HISKYDRVVR | REICRIITKG | TQTYSVLEGD | PSENYSKYLL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SLKEKEEDSS | GHTRAYGVCF | VDTSLGKFFI | GQFSDDRHCS | RFRTLVAHYP | PVQVLFEKGN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LSKETKTILK | SSLSCSLQEG | LIPGSQFWDA | SKTLRTLLEE | EYFREKLSDG | IGVMLPQVLK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GMTSESDSIG | LTPGEKSELA | LSALGGCVFY | LKKCLIDQEL | LSMANFEEYI | PLDSDTVSTT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RSGAIFTKAY | QRMVLDAVTL | NNLEIFLNGT | NGSTEGTLLE | RVDTCHTPFG | KRLLKQWLCA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PLCNHYAIND | RLDAIEDLMV | VPDKISEVVE | LLKKLPDLER | LLSKIHNVGS | PLKSQNHPDS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RAIMYEETTY | SKKKIIDFLS | ALEGFKVMCK | IIGIMEEVAD | GFKSKILKQV | ISLQTKNPEG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RFPDLTVELN | RWDTAFDHEK | ARKTGLITPK | AGFDSDYDQA | LADIRENEQS | LLEYLEKQRN |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RIGCRTIVYW | GIGRNRYQLE | IPENFTTRNL | PEEYELKSTK | KGCKRYWTKT | IEKKLANLIN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AEERRDVSLK | DCMRRLFYNF | DKNYKDWQSA | VECIAVLDVL | LCLANYSRGG | DGPMCRPVIL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LPEDTPPFLE | LKGSRHPCIT | KTFFGDDFIP | NDILIGCEEE | EQENGKAYCV | LVTGPNMGGK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| STLMRQAGLL | AVMAQMGCYV | PAEVCRLTPI | DRVFTRLGAS | DRIMSGESTF | FVELSETASI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LMHATAHSLV | LVDELGRGTA | TFDGTAIANA | VVKELAETIK | CRTLFSTHYH | SLVEDYSQNV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| AVRLGHMACM | VENECEDPSQ | ETITFLYKFI | KGACPKSYGF | NAARLANLPE | EVIQKGHRKA |
| 1330 | 1340 | 1350 | |||
| REFEKMNQSL | RLFREVCLAS | ERSTVDAEAV | HKLLTLIKEL |