P43246
PR
Gene name |
MSH2 |
Protein name |
DNA mismatch repair protein Msh2 |
Names |
ATP-binding cassette sub-family B member 1, Multidrug resistance protein 1, P-glycoprotein 1, Phospholipid transporter ABCB1, hMSH2, MutS protein homolog 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4436 |
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
17 structures for P43246
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2O8B | X-ray | 275 A | A | 1-934 | PDB |
| 2O8C | X-ray | 337 A | A | 1-934 | PDB |
| 2O8D | X-ray | 300 A | A | 1-934 | PDB |
| 2O8E | X-ray | 330 A | A | 1-934 | PDB |
| 2O8F | X-ray | 325 A | A | 1-934 | PDB |
| 3THW | X-ray | 309 A | A | 1-934 | PDB |
| 3THX | X-ray | 270 A | A | 1-934 | PDB |
| 3THY | X-ray | 289 A | A | 1-934 | PDB |
| 3THZ | X-ray | 430 A | A | 1-934 | PDB |
| 8AG6 | EM | 280 A | A | 1-934 | PDB |
| 8OLX | EM | 310 A | A | 1-934 | PDB |
| 8OM5 | EM | 352 A | A | 1-934 | PDB |
| 8OM9 | EM | 332 A | A | 1-934 | PDB |
| 8OMA | EM | 329 A | A | 1-934 | PDB |
| 8OMO | EM | 343 A | A | 1-934 | PDB |
| 8OMQ | EM | 311 A | A | 1-934 | PDB |
| AF-P43246-F1 | Predicted | AlphaFoldDB |
2872 variants for P43246
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1558451013 RCV001009647 |
1 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076336 RCV001308701 RCV000656870 RCV000160588 RCV001358333 RCV000076334 RCV002415556 RCV000409939 RCV000505793 RCV002498368 RCV000524369 rs267607911 |
1 | M>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220736 rs876658825 RCV001853531 |
1 | M>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076335 RCV003162494 RCV000560664 RCV000172811 RCV000235433 RCV000165763 rs267607911 |
1 | M>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165871 RCV000818503 CA021542 rs587778521 |
2 | A>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000561626 RCV000121557 RCV000512708 CA021548 RCV000168363 rs587778521 RCV000410801 |
2 | A>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000813731 RCV000221366 RCV000586230 rs281864943 |
2 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034558 RCV000202071 RCV003149608 RCV001083980 RCV000076617 VAR_054511 RCV000115534 RCV001356983 RCV000664313 RCV001262884 CA021232 rs63750466 |
2 | A>T | Breast carcinoma Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1257347271 RCV000774955 CA346728406 RCV002536693 RCV000781996 |
3 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728404 rs1257347271 RCV000706952 RCV000776681 |
3 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000689564 rs1558451119 RCV000759095 |
4 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728415 rs878853797 RCV002424689 RCV003155289 RCV000701344 |
4 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000758584 CA346728424 rs878853800 |
4 | Q>H | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000563870 RCV000227770 rs878853797 RCV000480195 RCV002465579 CA10581987 |
4 | Q>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000219790 RCV000663256 RCV000235807 rs754562075 RCV000473744 CA027207 |
4 | Q>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699823 RCV001010272 rs754562075 RCV001771985 CA346728417 |
4 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000570258 RCV001858305 CA658655649 rs1553348689 |
4 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160630 RCV000491987 RCV001204547 rs730881775 |
5 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160589 RCV000559215 CA018467 RCV002390391 rs56170584 |
5 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002513806 RCV000165088 rs56170584 RCV000524345 RCV000486935 VAR_079822 CA018457 RCV001030703 RCV000076178 RCV000781557 RCV001354505 RCV003153355 RCV000412350 |
5 | P>Q | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Ovarian cancer Hereditary breast ovarian cancer syndrome Lynch syndrome decreases protein levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000579789 RCV002274057 RCV000546654 CA346728432 rs56170584 |
5 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1573422612 RCV001011368 RCV000804405 CA346728429 |
5 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562322 RCV000759824 RCV000538201 CA030563 rs777351049 |
6 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA46666424 rs146017810 RCV000809070 |
6 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001056824 RCV000076388 RCV000202031 RCV000218615 rs267607915 |
7 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375561490 RCV001014004 CA346728451 |
7 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698385 RCV000580313 CA46666467 rs530071578 |
7 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000985800 rs530071578 RCV000461641 CA16610839 RCV000567075 |
7 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001321132 RCV001189020 rs375561490 CA46666445 |
7 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375561490 RCV000561430 RCV003151793 RCV002528990 CA346728450 |
7 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307185 rs530071578 |
7 | E>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219402 rs1672230891 |
8 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076420 rs1553348668 |
8 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002454276 rs17217716 RCV001038223 |
8 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000434381 RCV000076466 CA020551 RCV001082308 RCV001353559 RCV002498369 RCV003149750 rs17217716 RCV000144624 RCV000130682 RCV000121556 VAR_013171 |
8 | T>M | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17217716 RCV000564460 RCV000460417 CA16610971 RCV001798836 |
8 | T>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002515713 rs876660332 RCV000218068 CA10577912 |
8 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001178769 rs1672231681 |
9 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573422744 RCV000817588 CA346728475 |
9 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672231681 RCV001323925 |
9 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751099 CA020976 RCV000076557 RCV000804938 |
10 | Q>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166449 CA021004 RCV001296242 rs786203228 |
10 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA020973 rs63751099 RCV000034557 RCV002433492 |
10 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728481 RCV001017894 rs1573422771 |
10 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076560 rs63750589 |
11 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298463 RCV000221149 rs63750614 RCV000076570 RCV000554624 RCV000202253 |
12 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295935 rs917968387 |
12 | E>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728510 rs1553348722 RCV000530789 |
12 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690765 CA346728515 rs1558451303 |
12 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574098 rs917968387 CA46666533 RCV000818613 |
12 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_043736 rs63749907 CA021120 |
13 | S>I | CRC; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000235367 RCV000688689 RCV000572196 CA10584201 rs63749907 |
13 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502015 RCV000471952 CA16610974 RCV000574312 RCV000695223 RCV002473115 CA346728528 |
13 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000216179 rs876658277 RCV000558623 RCV001770169 CA10577913 |
14 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1672233572 RCV001293833 |
15 | A>missing | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630170 RCV000506535 RCV001764503 rs1183892581 RCV002329207 CA346728542 |
15 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001190993 rs776671839 |
15 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484013 RCV002329151 RCV000540608 rs745771647 CA038939 |
16 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000469251 RCV000581112 rs1060502036 CA16610768 |
16 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750966 VAR_043737 RCV000985812 RCV001212396 CA021228 |
17 | V>F | Hereditary nonpolyposis colorectal neoplasms gastric cancer; unknown pathological significance; cryptic acceptor splice site suppressed on ex vivo splicing assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA346728561 RCV000584099 rs63750966 RCV002530801 |
17 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003162789 CA346728564 rs63750966 RCV000629710 |
17 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000758585 CA346728579 rs1200418561 |
18 | G>D | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000160635 rs141711342 CA021396 RCV000588459 RCV001255213 RCV000409531 RCV000708823 RCV001084278 |
19 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002291700 RCV000805682 rs1320061495 RCV001024434 CA346728591 |
19 | F>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000486701 rs141711342 RCV000695062 CA16617545 |
19 | F>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346728605 rs1198168331 RCV002352341 RCV001024669 RCV000798869 CA346728603 |
20 | V>L | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001359880 RCV000580093 rs1198168331 CA346728601 |
20 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000561569 CA346728615 rs774708147 |
21 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000539963 CA021613 RCV001025106 RCV000160594 rs730881760 |
21 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000456279 RCV003150218 rs1060501996 RCV001025005 CA16610840 |
21 | R>L | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000552453 CA16617546 RCV000485060 RCV000572631 rs730881760 |
21 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001219934 rs730881760 |
21 | R>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708824 CA346728621 RCV001052926 rs1189127007 RCV002360839 |
22 | F>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000132460 CA021716 rs200632093 RCV000806405 |
22 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579914 RCV001306764 CA346728623 rs1189127007 |
22 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000986642 RCV000417652 CA021742 RCV001358277 RCV000213945 RCV001083940 rs372619120 RCV000759120 |
23 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587779976 RCV002515795 RCV000772129 RCV000115541 CA022076 |
24 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000560638 CA346728646 rs587779976 RCV000777268 |
24 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000479166 RCV001062881 CA16617547 RCV000569588 TCGA novel rs1064794928 |
24 | Q>H | Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar TOPMed dbSNP |
|
RCV001179994 rs1672236653 |
24 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779177 RCV000076697 |
25 | G>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165126 RCV000464538 RCV002498818 rs746259256 RCV001762374 CA022143 |
25 | G>C | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001193893 RCV000164134 CA022180 rs767747378 RCV001762365 RCV000525136 |
25 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553348760 RCV000590325 RCV000562522 |
26 | M>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779175 RCV000076691 |
26 | M>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660371 CA10577915 RCV000812753 RCV000214711 |
26 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026826 CA346728671 rs1573423213 RCV001759920 |
26 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728663 rs876660371 RCV000630093 |
26 | M>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820927 rs878853826 CA346728680 |
27 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235224 RCV001374485 RCV000164692 RCV000412025 rs750746034 RCV000228123 CA022338 RCV000708825 |
27 | P>L | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary breast ovarian cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000688502 rs750746034 RCV002422483 RCV001771940 CA040707 |
27 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027033 RCV001342142 rs878853826 CA346728682 |
27 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10581989 RCV000664273 RCV001658053 RCV002282071 RCV000226454 rs878853826 |
27 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000076731 rs587779188 |
28 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751246 RCV000491146 RCV000076730 CA022387 |
28 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63751246 RCV002429983 RCV001230131 CA040832 |
28 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502001 RCV000467909 CA16610843 |
29 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035991 rs1060502001 |
29 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573423284 RCV001018367 RCV001322238 CA346728716 |
29 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000233615 RCV001762369 CA022507 rs757892928 RCV000411131 RCV003114313 RCV000164508 |
30 | P>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000223455 CA10577916 RCV001853539 rs757892928 |
30 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000167297 RCV002515178 CA022481 rs786203822 |
30 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502000 RCV002230801 |
31 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581990 rs746635262 RCV000500023 RCV000230155 RCV001337838 |
31 | T>S | Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000076762 rs63750728 |
32 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502033 RCV002375379 RCV001306527 |
32 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230795 rs552361923 CA16610772 |
32 | T>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060502033 RCV002230369 CA16610978 RCV003168801 |
32 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502033 RCV000582188 CA346728739 |
32 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002381695 rs552361923 RCV000812957 RCV000202098 CA041826 |
32 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1672239981 RCV001176746 |
33 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573423412 RCV001019875 RCV002550851 |
33 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672240193 RCV001797821 |
33 | T>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076773 RCV001818242 RCV000565059 rs63751107 RCV000684814 RCV000480593 CA022696 |
33 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002483125 rs63751107 RCV000662483 RCV001354855 VAR_043738 RCV000627734 RCV000129083 RCV000236043 CA022692 RCV000656871 |
33 | T>P | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001019873 RCV001055652 CA346728749 rs769631146 |
33 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001016985 rs1064793541 CA346728756 |
34 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001037181 RCV001016981 rs1064793541 RCV000484906 CA16617548 |
34 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001217678 rs1672241024 |
35 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230814 rs1060502034 CA16610982 |
35 | R>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000483915 RCV000629871 CA16617549 rs1060502034 RCV000579393 |
35 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002402259 RCV002230807 CA16610983 rs1060502012 |
35 | R>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000533387 CA346728772 rs1553348786 |
36 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076041 RCV002453385 rs63751056 |
37 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1433060674 RCV001037648 CA346728801 RCV000580341 |
37 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001564699 RCV000780454 RCV000524331 CA017363 rs587779074 RCV000164456 RCV000662913 |
38 | D>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881761 RCV000160597 RCV000570990 CA017316 RCV002229429 |
38 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553348794 RCV000535946 |
39 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782759 RCV003163704 RCV001221635 |
39 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132280 rs587782759 RCV000780435 CA017407 RCV000800194 RCV001753517 |
39 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000197864 rs863224831 |
39 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728820 rs587782759 RCV002327318 RCV001055151 |
39 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001222298 RCV000584544 CA346728817 rs786202334 |
39 | R>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002345384 rs63750984 RCV000076059 RCV000818363 |
40 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728830 RCV001203440 rs876658719 RCV002348659 |
40 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs63751260 RCV000236371 RCV000627704 RCV000491838 RCV001030704 VAR_043739 RCV000781559 CA017443 |
40 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000526475 RCV000221582 CA10577918 rs876658719 |
40 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000166062 RCV000589227 rs761960690 RCV001357474 RCV000662660 RCV000228645 CA017623 |
41 | D>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000230826 CA10581991 RCV000575441 rs878853799 |
41 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000559519 RCV001192614 RCV000160605 RCV000212577 rs730881766 CA027356 CA017708 |
42 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA346728855 rs1553348804 RCV000563450 |
42 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218133 rs1672243629 |
42 | F>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782561 RCV000131782 |
43 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017923 CA46666940 rs63750894 RCV000076117 |
43 | Y>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs17217723 RCV000131211 RCV000076115 RCV000764419 RCV000409784 RCV001262887 RCV000656872 VAR_019233 CA017905 RCV000524339 RCV000212578 |
43 | Y>C | Sarcoma Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001861867 CA346728868 RCV000679285 rs786202731 RCV001010721 |
43 | Y>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs17217723 RCV001358224 RCV000484092 CA16617550 RCV000811394 RCV000564344 |
43 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001239570 CA017876 rs786202731 RCV000165687 |
43 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001176680 rs1672244370 |
44 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779085 CA017976 RCV000540791 RCV000132327 |
44 | T>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA017986 RCV001067521 RCV002255279 rs587779085 VAR_043740 |
44 | T>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance; no decrease in mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001843573 rs63750285 RCV001238108 |
45 | A>E | Hereditary nonpolyposis colorectal neoplasms Hepatoblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344527 CA018055 rs63750285 VAR_043741 RCV000215011 |
45 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance; no decrease in mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs63751482 RCV000076135 RCV001353626 |
46 | H>missing | Carcinoma of colon Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630041 rs1553348822 CA346728895 |
46 | H>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs33946261 RCV001354246 RCV000148631 RCV000664309 CA018210 RCV000076150 RCV000986643 RCV001719811 RCV000115501 VAR_004470 RCV002477217 RCV001798265 RCV000121555 |
46 | H>Q | Breast and/or ovarian cancer Colorectal cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000573240 rs1553348821 CA346728894 RCV001320849 |
46 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545646 rs763573151 RCV001011389 CA346728901 |
47 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001383570 rs863224481 RCV002390531 RCV000199618 |
48 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076158 RCV000662482 RCV000537461 RCV000506167 RCV001354006 rs63750615 RCV001011543 RCV000582377 CA018272 |
48 | E>* | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750334 RCV000076168 |
49 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750644 RCV000076169 |
49 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196255 CA028797 RCV000160616 rs730881771 CA018396 RCV000565780 |
49 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1488461123 RCV002395666 RCV001313142 |
49 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000684812 RCV002267841 rs63750335 RCV000160615 CA018373 RCV000662586 RCV000221403 |
49 | D>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876658582 RCV000215229 CA10577920 RCV000554733 RCV002264919 |
50 | A>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16610845 RCV000561205 rs876658582 RCV001284007 RCV000470501 RCV000662999 |
50 | A>G | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1001100094 CA46667075 RCV001187986 |
50 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728954 RCV000823858 rs1573423801 |
51 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076191 rs63750352 |
52 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553348842 RCV000556514 |
52 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728961 rs786202335 RCV000629756 |
52 | L>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728963 rs786202335 RCV000539160 |
52 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728971 rs1456393710 RCV000706439 |
53 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000222303 CA029624 RCV000813496 rs755931648 RCV000708826 |
53 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000772332 rs755931648 RCV000522307 RCV002525117 CA46667084 |
53 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876660480 RCV000213902 RCV002515726 |
54 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402689 rs749212640 RCV001222952 |
54 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200570 RCV000164978 rs749212640 RCV001589031 RCV000663139 CA018738 RCV000781570 |
54 | A>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10577921 RCV000814579 rs749212640 RCV000679293 RCV000220104 |
54 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA029814 RCV000560975 rs768661914 RCV001867892 |
54 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059525 rs63750337 RCV000076209 RCV002390228 RCV001577449 RCV001193898 |
55 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131300 RCV000212579 RCV000545235 VAR_079823 CA018773 rs587782354 |
55 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms decreases protein levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs748196422 RCV001036059 RCV002400216 |
55 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206288 CA029952 RCV000781988 rs748196422 RCV000214778 RCV000235898 |
55 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346728978 rs587782354 RCV002536924 RCV000790909 |
55 | R>W | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750087 RCV000076239 |
56 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536352 rs1553348867 |
56 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018959 RCV000076238 RCV002399458 rs587779102 |
56 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235661 RCV000122982 RCV000580136 RCV000657006 CA018954 RCV002477321 rs587779102 |
56 | E>K | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346728981 RCV001012654 RCV001260343 rs587779102 RCV000525199 |
56 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587782004 RCV002228497 RCV000130419 CA018976 RCV003114282 |
56 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691925 rs1558451971 CA346728990 |
57 | V>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019054 rs267607913 RCV003167708 RCV002750842 |
57 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040735 rs1672250353 |
58 | F>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470314 RCV000508172 CA030766 RCV000568410 RCV000168388 RCV000491232 CA019166 RCV003153620 rs372189599 |
58 | F>L | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA346728992 RCV002397393 RCV000690977 rs1219748334 |
58 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728996 RCV000772914 rs1558451983 |
58 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672250622 RCV001180218 RCV001875977 RCV002249760 |
59 | K>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771255106 RCV000491053 CA346728998 |
59 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001312301 rs1449905909 RCV001013128 CA346729001 |
59 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001013088 rs777174093 CA031202 |
59 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001013158 rs1573424088 CA346729005 |
60 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544034 RCV000777207 rs1553348882 |
61 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076295 CA019387 rs63750951 RCV000219541 RCV000524363 RCV000202086 |
61 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230365 CA16610991 rs63750951 RCV000563687 |
61 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753678 CA031694 RCV001858303 RCV000571464 RCV000537297 RCV000216596 RCV000679297 CA031678 rs751082926 |
61 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779113 CA019414 RCV000708715 RCV001218170 RCV000662761 RCV001703978 |
61 | Q>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231661 RCV000076310 RCV000491017 rs63750160 RCV000202123 |
62 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000236172 RCV000630120 CA10584202 rs879254195 |
62 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879254195 CA346729015 RCV000574471 |
62 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567648 CA346729012 rs767140240 CA031732 RCV003105972 RCV000581100 |
62 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001854319 RCV000491030 RCV000076311 RCV000570107 rs63750160 RCV000076308 |
63 | V>missing | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558452054 RCV002412037 RCV001323400 |
63 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729018 RCV000580643 RCV001038381 rs1553348889 |
63 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729016 rs1553348889 RCV000583464 |
63 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808028 rs1573424223 |
64 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672252966 RCV001204873 |
64 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729028 RCV000772252 rs1395172053 RCV000695203 RCV002271568 |
64 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002268425 rs1166747167 RCV001806007 CA346729023 RCV001062343 |
64 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000689752 rs1553348896 RCV000574734 |
65 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000532791 rs1553348898 |
65 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729030 rs1465016316 RCV000799373 |
65 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1672253554 RCV001181761 RCV001876039 |
65 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250031 RCV002416267 RCV000799705 rs730881784 RCV000986644 CA346729043 RCV002550598 RCV001013932 CA346729044 |
66 | Y>* | Lynch-like syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1442557180 RCV000629797 CA346729051 |
67 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000550333 RCV000662879 RCV000222393 CA10577924 rs876660001 RCV001762495 |
67 | M>K | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729047 rs876660001 RCV001014029 |
67 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581797 rs768824654 RCV001770148 CA032335 RCV003114359 RCV000195508 |
67 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000777305 rs1558452108 |
68 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729055 RCV001014183 RCV001345314 rs1064795914 |
68 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002551768 rs1064795914 CA346729056 RCV001014184 |
68 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420345 RCV000539522 rs1553348904 |
69 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491774 RCV001262885 RCV000076373 rs63750199 RCV000657242 RCV001762196 RCV001210613 |
69 | P>missing | Breast carcinoma Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729061 RCV001229452 RCV000507013 rs983555044 RCV001764502 |
69 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001014309 CA46667221 rs983555044 RCV001059229 |
69 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587782481 RCV000275141 CA10615486 |
70 | A>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001057027 rs587778522 |
70 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808087 rs587778522 RCV000121558 CA019989 RCV000771511 |
70 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA020016 RCV002466443 RCV000131596 rs587782481 RCV000805430 RCV002466444 |
70 | A>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479278 CA16617553 rs1064793802 RCV000580558 |
71 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000132075 rs587782659 CA020066 RCV000985801 CA346729065 RCV000503476 RCV001353465 RCV000535324 |
71 | G>R | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV001193287 rs1558457009 RCV000689690 RCV001014484 CA346729456 |
72 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166282 CA346729452 RCV000809263 rs1558456993 |
72 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000772029 RCV001856007 rs1558456993 CA346729453 |
72 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491843 rs1114167863 |
73 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729459 RCV000630177 rs770110491 |
73 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770110491 CA034530 RCV001014648 RCV000629997 |
73 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001014703 RCV001800850 rs1444672793 CA346729461 RCV000688205 |
73 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000587188 RCV000230947 CA020232 RCV002477316 RCV000121566 RCV000571485 rs150548839 RCV000409685 |
74 | N>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167869 RCV000492047 CA346729469 |
74 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729470 rs1553350075 RCV000537127 |
74 | N>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729468 rs1114167869 RCV000816345 |
74 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167869 RCV001247075 |
74 | N>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750712 RCV000076441 RCV002426635 |
75 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491576 RCV000684780 CA020381 RCV000202307 RCV000076447 rs63750042 RCV001250039 |
76 | Q>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000506357 RCV000216584 RCV001770109 CA020411 RCV000198343 RCV001303165 CA10577926 RCV000132473 COSM1021241 rs587782857 |
76 | Q>H | Variant assessed as Somatic; 0.0 impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001322124 rs1281311713 CA346729478 RCV001788459 |
76 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000808199 rs1281311713 CA346729479 |
76 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194000 RCV000220900 RCV001353711 rs63749848 RCV001262888 RCV000524383 RCV000076455 |
77 | S>missing | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002457984 rs1553350080 RCV000629791 CA346729488 |
77 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818237 rs892915951 CA46672651 |
78 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235910 RCV003150133 rs772779997 RCV000491448 RCV000229561 CA035416 |
78 | V>I | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791577 rs1573436327 CA346729493 |
79 | V>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672550932 RCV001205680 |
80 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232304 rs1672551053 |
81 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000776539 rs1064793491 CA16617554 RCV000698413 RCV000481110 |
81 | S>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346729508 rs1064793491 RCV002453906 RCV000824404 |
81 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346729509 rs1064793491 RCV000771426 RCV001215145 RCV001772025 |
81 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000076475 rs1573436369 |
82 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs587779145 RCV000076477 CA020604 |
82 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553350100 RCV000574387 CA346729518 |
82 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068716 RCV002253767 rs1672551774 |
82 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184668 rs1672552199 |
83 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA036212 RCV001178226 RCV001303509 rs766196837 |
83 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1573436408 RCV001002334 RCV001064584 CA346729520 |
83 | M>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610775 rs766196837 RCV000460763 RCV000575381 RCV000523794 |
83 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs786202037 RCV000164646 RCV001235881 |
84 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573436418 RCV001200431 RCV002451410 |
84 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820762 rs1573436418 CA346729528 |
84 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607921 RCV000076503 |
85 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751158 RCV001176398 |
85 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672552627 RCV001250025 |
85 | F>L | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076504 TCGA novel rs63751158 |
86 | E>* | Variant assessed as Somatic; impact. Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
CA346729545 RCV000818261 rs1573436455 |
86 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212581 RCV000662735 CA020808 RCV000233259 rs587781447 RCV000129363 |
87 | S>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781447 RCV001229918 |
87 | S>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216857 RCV002254690 rs587781447 RCV000235359 RCV001320134 CA10577927 |
87 | S>Y | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000076531 RCV001001138 RCV001383025 rs267607920 |
88 | F>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180255 rs1672553516 RCV001303579 |
88 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250027 RCV000168462 rs267607920 RCV001382830 |
89 | V>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227027 RCV000215101 RCV001030705 rs876659747 CA10577929 RCV001532987 |
89 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10577928 rs587782586 RCV002465572 RCV000213369 |
89 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782586 CA020879 RCV000131925 RCV001052195 |
89 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660914 RCV001016413 CA346729576 |
91 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1558457163 CA346729573 RCV000758586 |
91 | D>H | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016400 rs1558457163 CA346729572 |
91 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629774 RCV002288900 RCV000218027 rs876660914 CA10577931 |
91 | D>V | Hereditary cancer-predisposing syndrome Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000236183 rs587779154 CA10584203 RCV001854867 RCV001524115 |
92 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000545581 RCV002438289 CA346729581 RCV001175572 rs1387584638 |
92 | L>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194034 CA346729579 RCV000544244 rs587779154 |
92 | L>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000221964 RCV001353838 RCV000552261 rs587779154 RCV000412138 CA020916 RCV001196697 |
92 | L>V | Turcot syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_043742 | 92 | L>del | LYNCH1; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs63749872 RCV000076548 |
93 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002433581 RCV000076546 rs63751429 RCV002465507 CA020925 VAR_043743 |
93 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000076552 RCV000679309 RCV001080253 RCV002504986 rs267607919 RCV000115523 RCV000986647 RCV000417384 |
94 | L>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1330621664 CA346729588 RCV000564607 RCV001351270 |
94 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000819874 rs1323488764 RCV001175573 RCV002434010 CA346729594 |
95 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001016750 CA346729592 rs1323488764 |
95 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3939104 RCV000629862 RCV001090210 CA346729600 RCV001193290 RCV000580951 rs1443234544 |
96 | R>C | oesophagus Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
VAR_004471 RCV001719812 RCV000076555 RCV000442211 rs63750002 RCV000524401 RCV000662472 RCV000164188 CA020967 |
96 | R>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001055463 rs63750002 RCV001524608 |
96 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491188 rs1114167808 |
97 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160586 CA020970 RCV000699084 RCV000491888 rs63750970 RCV000409729 RCV000076556 |
97 | Q>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs63750970 RCV001216737 |
97 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247753 RCV000484791 CA16617555 rs1064794792 RCV002436541 |
97 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558457235 CA346729605 RCV000697679 |
97 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553350126 RCV000076538 RCV000001831 |
98 | Y>missing | Muir-Torré syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438639 rs1553350167 RCV000629783 |
98 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763872353 RCV001854868 CA10584204 RCV000235827 |
98 | Y>* | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000693356 rs63750887 VAR_043744 CA020980 |
98 | Y>C | Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs63750887 CA346729612 RCV000776953 |
98 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000564120 rs1553350175 CA346729619 |
99 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131144 CA020986 rs587782283 RCV000802284 |
99 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1672557694 RCV001225005 |
100 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573436784 CA346729621 RCV000824574 |
100 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229724 rs63750318 |
101 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076562 RCV000236396 RCV000129228 RCV000409469 RCV000791449 rs587779157 |
101 | E>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020992 rs63750318 RCV001389138 RCV000076561 RCV000569740 |
101 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018181 rs1573436801 RCV001860896 CA346729631 |
101 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729627 RCV001018072 rs63750318 RCV001585923 |
101 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491397 rs1114167874 |
102 | V>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922373 RCV000030251 CA020996 RCV000657039 RCV000662359 RCV000130254 RCV000236541 RCV000536977 VAR_043745 |
102 | V>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000662774 RCV001232251 rs63751173 RCV000491016 RCV000478164 CA021001 |
103 | Y>C | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325387 RCV000692967 rs63751173 CA346729642 |
103 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235841 RCV000572633 RCV000122989 rs587780688 CA020998 |
103 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs372972328 CA037821 RCV001296390 RCV000565325 CA346729656 |
104 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000580619 rs1553350191 CA346729650 |
104 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558457336 CA346729673 RCV000776615 RCV000697035 |
105 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs41295286 RCV000115525 CA021007 RCV000588805 VAR_038026 RCV003149753 RCV000172812 RCV000202010 RCV000076564 RCV001083191 |
106 | R>K | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000793779 CA346729684 RCV000567001 rs41295286 |
106 | R>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs876658935 RCV000562240 CA346729697 |
107 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658935 CA10577932 RCV000221016 RCV000702606 |
107 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021012 RCV000131126 RCV000811372 rs587779158 |
107 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876658935 RCV000571261 CA346729699 |
107 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985807 RCV001019302 rs1573436948 |
108 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729711 rs1183145967 RCV000574236 |
108 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000572927 RCV001858103 rs1183145967 CA346729713 RCV001575414 |
108 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000774555 CA037887 rs749545338 RCV000465504 RCV003129863 |
109 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000567258 rs587779970 CA021018 RCV001269195 RCV000475276 RCV000115526 |
110 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_043746 | 110 | K>T | LYNCH1; somatic mutation [UniProt] | Yes | UniProt |
|
RCV001215141 RCV002322041 rs1672561306 |
111 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350215 RCV001300411 |
111 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565104 RCV001858307 CA346730004 rs1553350215 |
111 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001760227 RCV001229939 RCV002322108 rs1672561306 RCV001355866 |
111 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000389495 rs769215192 CA037917 RCV002323544 |
112 | S>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001020082 rs769215192 CA10584205 RCV000235804 RCV001211169 |
112 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002291503 RCV001249955 rs1573437064 |
113 | K>* | Lynch-like syndrome Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730026 RCV001300116 RCV001020138 rs1573437064 |
113 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759831 rs35898375 RCV001855919 CA346730037 |
113 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001876145 rs1672561938 RCV001184619 |
113 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034685 RCV000228392 rs878853815 RCV001020232 CA10581993 RCV000985808 |
114 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751195 RCV000076568 |
115 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350228 CA346730057 RCV000524887 |
115 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001269636 RCV000076569 RCV002453389 RCV001390797 rs63750501 |
116 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542017 CA46675624 rs1035655051 |
116 | D>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610782 RCV000473438 rs786202083 RCV000494274 |
117 | W>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630042 rs1553350243 CA346730088 |
117 | W>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697197 rs786202083 CA346730090 |
117 | W>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021042 rs786202083 RCV000164721 |
117 | W>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001383337 RCV000076571 rs587779159 |
118 | Y>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001523827 rs879254025 RCV002450729 RCV001385602 RCV000235445 |
118 | Y>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350250 RCV000662664 RCV001020582 CA346730114 |
118 | Y>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730108 RCV001050589 RCV000574539 rs1291162195 RCV000985809 |
118 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001858650 RCV000986648 CA346730120 rs1573437173 |
119 | L>* | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629761 rs1114167831 RCV000490924 RCV000657326 |
121 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021049 RCV001070054 RCV000076572 RCV000580738 rs63750458 |
121 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226077 RCV000220764 RCV000115527 RCV001257467 rs587779971 CA021046 |
121 | Y>C | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001359475 rs878853816 RCV000232302 CA10581994 |
121 | Y>N | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167829 RCV000492014 |
122 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730156 RCV000811233 rs374127044 |
122 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001299599 CA337455 rs863224643 RCV000197813 |
122 | K>M | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46675650 rs374127044 RCV001346160 |
122 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs63750210 RCV000076588 |
123 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212582 CA021080 RCV000531566 rs730881767 RCV000160606 |
123 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA038305 rs768313992 RCV002451268 RCV001062944 |
123 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346730339 RCV000582074 RCV001347656 rs1553350635 |
124 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505865 RCV000218398 RCV001219759 rs876659113 CA10577935 |
125 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730341 rs761767467 RCV000629757 |
125 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1672655495 RCV001347427 RCV002368142 |
126 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365448 CA16042055 rs767371843 RCV000412177 |
126 | G>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000166502 RCV000199020 rs767371843 CA021086 RCV000515190 |
126 | G>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751227 RCV000076590 |
127 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021203 RCV000759833 rs1558458884 |
127 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000162398 VAR_019234 RCV000757470 RCV000144619 RCV001353586 RCV003149584 RCV002490419 rs17217772 CA021092 RCV000030253 RCV000035361 |
127 | N>S | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; presumed to enhance cancer risk considerably when associated with P-328; shows significantly decreased repair efficiency when associated with variant P-328 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17217772 CA346730352 RCV000693598 |
127 | N>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs730881768 RCV000197978 RCV000662843 RCV000590606 CA021103 RCV000217291 RCV000515278 |
128 | L>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001719858 RCV000115528 RCV000195415 RCV000212583 RCV001353804 RCV000986649 rs145649774 RCV000524406 CA021100 |
128 | L>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986650 CA021106 RCV000587688 RCV000492034 rs587779972 RCV000629990 |
129 | S>C | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779972 RCV000115529 RCV002354293 RCV001854553 CA021109 |
129 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000202145 RCV001353820 RCV000076591 rs63750924 RCV000491648 RCV000684791 RCV001250035 |
130 | Q>missing | Carcinoma of colon Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750704 RCV000163755 RCV000235890 RCV000816977 RCV000076592 RCV000087058 RCV003137613 |
130 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501989 RCV002230796 RCV001190389 RCV002289610 RCV000657785 CA16610998 |
130 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501989 RCV001045055 |
130 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730368 RCV000701565 rs1558458954 |
130 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA038462 rs755423698 RCV000810636 RCV000491136 |
131 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002375124 rs1486720679 RCV001199885 CA346730381 |
132 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000076595 rs63751290 |
133 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA46677666 RCV001324767 rs984353312 RCV000563996 |
133 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346730393 rs1573440435 RCV001021648 |
134 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730394 RCV000799773 rs1573440435 |
134 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217044 rs193096019 RCV001175574 RCV000411543 RCV000199902 CA021136 RCV000115530 |
135 | L>F | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320414 rs193096019 RCV002357148 |
135 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193096019 RCV000997136 RCV002267920 RCV002053989 RCV001357296 RCV000546078 RCV000166792 CA021133 RCV002291583 |
135 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000076596 rs63750408 RCV000823518 RCV000571607 |
136 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773993 RCV000796077 CA346730410 rs1558458996 |
136 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355466 RCV001798439 RCV000196356 RCV000679311 rs587781795 RCV000130057 CA021142 RCV000202282 |
137 | G>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000580456 rs1553350673 CA346730418 |
138 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA038614 RCV000205275 RCV000564892 rs769154205 RCV000237000 |
138 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001233371 rs1672659204 |
139 | N>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002326790 RCV000076597 rs63750401 |
139 | N>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672659022 RCV001191976 |
139 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_004472 CA346730427 RCV000505944 RCV001182958 rs1553350676 RCV001065279 |
139 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1672659515 RCV001321023 |
140 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052295 rs1672659515 |
140 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167810 RCV000491820 |
141 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985810 RCV000205179 rs1553350680 RCV000491597 |
141 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672660061 RCV001192280 RCV002560150 |
141 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246708 rs768313658 CA038657 RCV000773079 RCV000759834 |
141 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA021148 rs193922374 RCV000212584 RCV000030254 RCV000115531 RCV001079015 |
141 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001071576 RCV000491309 CA346730447 rs63750910 RCV000076598 RCV000519167 RCV001797622 RCV001022162 CA021151 |
142 | S>* | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000487404 RCV002525905 rs1064795714 RCV001354977 CA16617557 |
142 | S>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553350694 CA346730451 RCV000629707 |
143 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327104 RCV002229796 rs878853817 CA10581995 |
143 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553350694 RCV001204815 |
143 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264600 rs1672660841 |
144 | S>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672660930 RCV001322037 RCV002259104 |
144 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581996 RCV001305761 rs878853818 RCV001525207 RCV000226489 |
144 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001358588 RCV000076599 rs63750124 RCV001798267 RCV000148628 RCV000662480 RCV001262752 RCV000588226 RCV000212585 RCV000115532 RCV000764421 CA021158 VAR_004473 RCV001085983 |
145 | I>M | Carcinoma of colon Breast carcinoma Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000472699 CA038704 rs774132884 RCV001764409 RCV000572837 |
145 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876659264 RCV000780457 RCV000662917 RCV000465648 RCV000483760 CA10577937 RCV000221599 |
145 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730464 rs1558459089 RCV000772886 |
146 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205937 RCV000166585 rs772052262 RCV000662555 CA021161 |
146 | G>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760851623 CA038774 RCV000771216 RCV000588981 RCV001051880 |
147 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773125415 CA038750 RCV000759835 RCV000458857 RCV000568213 |
147 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703086 rs1558459096 |
148 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566091 rs1553350721 RCV001858151 |
148 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773700 rs1553350714 CA346730476 |
148 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858299 RCV000575907 CA346730475 rs1553350714 |
148 | V>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327505 RCV001216041 rs1672662905 |
148 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054539 RCV003160432 rs1672662905 |
148 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491979 rs1114167871 |
149 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730480 RCV000819410 RCV000581342 rs587779162 |
149 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA021170 RCV001358250 RCV000821319 rs587779162 RCV001022532 |
149 | G>D | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587779162 CA346730481 RCV000799179 |
149 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002249638 rs1558459157 RCV002327243 RCV001357699 RCV001030706 |
150 | V>F | Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706901 rs1558459157 CA346730482 RCV003150336 RCV002332512 |
150 | V>I | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558459157 RCV000806948 CA346730483 |
150 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730491 RCV000801029 rs1558459171 RCV000772982 |
151 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751449 RCV000582261 RCV000076602 RCV000001839 |
152 | M>missing | Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 2 Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730503 RCV001314289 rs1573440792 |
152 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
CA038814 RCV000561879 rs766349734 RCV002268177 RCV000691313 |
153 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001022744 CA346730512 RCV001066450 rs766349734 |
153 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002342452 rs759712763 CA346730516 |
154 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001584374 RCV000568245 CA038871 RCV000630061 rs759712763 |
154 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.62e-05 impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001022796 RCV001060535 CA346730524 rs1558459194 |
154 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050630 rs1672664863 |
155 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566316 RCV001551071 RCV000764422 CA346730530 rs876658188 RCV000808811 |
155 | V>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000659878 RCV001297065 RCV000214954 CA10577938 rs876658188 |
155 | V>D | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001042506 rs1372639847 |
155 | V>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284653 CA346730532 RCV000562713 RCV000527224 RCV000781569 rs876658188 |
155 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167884 RCV000491129 |
156 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573440880 RCV001022875 RCV001862234 |
156 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001876022 RCV001181271 rs1672665230 |
156 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672665378 RCV001187500 |
156 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780448 RCV000662894 RCV001569704 RCV000579889 rs765489269 CA038898 RCV000197496 RCV001798671 |
157 | G>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765489269 CA346730559 RCV000702391 |
157 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001192612 CA021185 RCV000076605 rs63751226 RCV002336225 |
158 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672665988 RCV001332304 RCV001238442 |
158 | Q>R | Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350758 RCV000630186 |
159 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021189 RCV000165991 RCV000780455 rs786202921 RCV001850329 RCV000478310 |
159 | R>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001532993 RCV001250038 RCV000547313 CA021192 RCV000076606 RCV002336226 rs63751426 |
160 | Q>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558459273 CA346730604 RCV000758587 RCV002334420 |
160 | Q>H | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730598 rs1573440972 RCV001023066 |
160 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002331318 CA346730609 RCV001554318 rs63750126 RCV000685129 RCV002286419 |
161 | V>A | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ependymoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076607 CA021196 RCV000490837 VAR_012936 rs63750126 |
161 | V>D | Hereditary cancer-predisposing syndrome Lynch syndrome 1 LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA021193 RCV000160612 RCV000212587 RCV000477198 rs149511545 RCV001002118 |
161 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695161 CA346730606 rs149511545 |
161 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs63750773 RCV000568914 RCV000529963 VAR_054512 CA021202 |
162 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000076608 rs63750624 RCV000491163 RCV000524412 RCV000662882 CA021199 VAR_043747 RCV001194033 RCV000985811 |
162 | G>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; associated with an abnormal subcellular localization pattern; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001365859 CA10577939 RCV000221949 rs63750214 |
163 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000076610 CA021206 VAR_043748 RCV000492044 rs63750214 |
163 | V>D | Hereditary cancer-predisposing syndrome Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001183049 VAR_022670 CA021209 rs63750214 RCV000076611 |
163 | V>G | Lynch syndrome 1 Hereditary cancer-predisposing syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs786204082 CA021218 RCV000240465 RCV000223301 RCV000167977 |
164 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750582 RCV001293544 RCV000076612 VAR_043749 RCV000491974 CA021212 RCV001390798 RCV001249918 |
164 | G>R | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA021215 rs63750582 RCV000168725 RCV000767200 RCV001060501 RCV000491255 |
164 | G>W | Familial colorectal cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672667969 RCV001211691 |
165 | Y>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002334219 RCV000657693 CA46677963 rs63749949 |
165 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730649 RCV001319579 RCV000567621 rs1553350772 |
165 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076614 RCV000630010 CA021222 rs587779163 VAR_067284 |
165 | Y>D | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001180656 rs1672668358 |
166 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_004474 RCV000115533 RCV000524411 RCV000148629 RCV000200986 RCV001284654 RCV000076615 CA021225 rs63750255 |
167 | D>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms LYNCH1; shows reduced mismatch binding; does not show a decreased expression level of the MutS alpha complex; not associated with an abnormal subcellular localization pattern; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1244537662 RCV000562157 CA346730684 RCV000691837 |
168 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63751013 RCV000076620 |
169 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA039056 RCV000203760 RCV000771214 RCV000662969 rs748762580 RCV001569238 |
169 | I>M | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000471013 RCV001269085 rs1060502011 RCV001190862 CA16610762 |
169 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076619 RCV003149754 RCV001030707 VAR_043750 RCV002498370 CA021236 rs63750716 RCV001355673 COSM1684714 RCV001086693 RCV000212588 RCV000115535 RCV000659879 |
169 | I>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary breast ovarian cancer syndrome LYNCH1 and CRC; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001226301 rs1672669489 |
170 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750843 RCV000076621 RCV000791416 RCV000491287 RCV000236121 RCV000785436 CA021248 |
170 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Neoplasm of ovary Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs63750843 CA039073 RCV000204442 RCV000214137 RCV000759837 RCV002485345 |
170 | Q>E | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167865 RCV001053469 RCV001532970 RCV000491118 CA346730701 RCV000985813 |
170 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553350787 RCV002230363 |
171 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021254 RCV000570883 RCV000627693 rs63750902 RCV001137124 |
171 | R>K | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs63750933 RCV000076624 RCV002514356 RCV000772130 |
172 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1260033060 RCV001876246 CA346730734 RCV001192308 |
172 | K>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs63750069 RCV000076627 |
173 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336228 RCV002290960 RCV001854331 RCV001353990 VAR_043751 rs63750070 CA021269 |
173 | L>P | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000076626 RCV000778170 CA021275 rs63750070 |
173 | L>R | Lynch syndrome 1 Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1176822890 CA346730741 RCV001323361 RCV001023669 |
173 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001800375 RCV001184535 CA021302 rs63751291 VAR_043752 RCV001731362 RCV000697263 |
175 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000689240 RCV000491537 rs1114167877 |
176 | C>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220739 rs587779164 RCV001048009 RCV000202171 RCV000076630 |
176 | C>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560456 rs1553350829 RCV003159732 CA346730779 |
176 | C>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002514358 RCV000076633 rs63750551 |
177 | E>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345386 rs63750382 RCV000076632 CA021325 |
177 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000583979 rs1060504416 CA346730797 RCV000816816 |
177 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307641 RCV000582511 rs786203795 CA346730791 |
177 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_067285 | 177 | E>H | LYNCH1; requires 2 nucleotide substitutions; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes | UniProt |
|
RCV001023885 CA021318 rs63750382 RCV002514357 |
177 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021339 RCV002469039 rs786203795 RCV001234848 RCV000167255 |
177 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491725 rs1114167812 |
178 | F>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350837 CA346730812 RCV000563802 |
178 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856140 rs1558459478 RCV000777044 CA346730804 |
178 | F>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491334 rs1114167812 |
179 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629937 RCV001023985 CA46678119 rs902336078 |
179 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001061458 rs1672672975 |
182 | D>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021347 RCV000160614 RCV001348083 RCV001024126 rs730881770 |
182 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001781399 RCV000561236 CA021358 rs63750037 RCV000076634 |
183 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs63750037 RCV001207699 |
183 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853977 RCV001024159 CA346730870 RCV000590002 rs63750037 |
183 | Q>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346730873 rs1327382646 RCV000688540 |
183 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000076636 rs267607928 RCV000481227 |
184 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698381 rs786202238 CA346730888 |
184 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566564 RCV000229255 rs878853819 RCV000759114 CA10581997 |
185 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000204173 CA348416 rs766497093 |
186 | N>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000587046 CA021391 RCV001081828 rs151129360 RCV000202264 RCV000130716 RCV000411418 RCV001798268 |
186 | N>S | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346730909 RCV000574683 RCV000810913 rs759603999 |
187 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346730911 RCV000573024 RCV001063235 rs759603999 |
187 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001353422 rs63751444 CA021405 RCV000581973 RCV001240116 RCV000076638 VAR_043753 |
187 | L>P | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA021414 VAR_076352 RCV002345387 RCV000076639 RCV000822250 rs63751444 |
187 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000491575 rs1114167885 |
188 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001137125 rs1064795622 RCV002556914 |
188 | E>K | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854332 RCV002281912 RCV001199286 rs63750088 RCV001310203 RCV000076640 |
188 | E>missing | Turcot syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580018 CA16617558 rs1064795622 RCV000479837 RCV000701289 |
188 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000590509 RCV000565216 RCV002478486 RCV000233177 CA021433 RCV000410808 RCV001251062 rs141021599 |
189 | A>G | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691636 CA039268 rs63750821 RCV000236727 RCV001024381 |
189 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346730942 RCV001024410 RCV001873379 rs763459034 |
190 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491207 CA346730946 rs1114167878 |
190 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167855 RCV000490884 |
191 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076643 RCV000160632 RCV001353866 RCV000497286 rs587779165 RCV000684796 |
191 | L>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003105932 CA346730955 RCV000776712 RCV001244733 RCV000504099 rs1553350898 |
191 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553350898 CA346730954 RCV001024449 |
191 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193998 RCV000774556 rs768006988 CA039357 RCV000548934 |
192 | I>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001175679 rs864622381 CA46678335 RCV000702160 |
192 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000490948 RCV000629870 CA021466 rs63751326 RCV000076645 RCV001284655 |
193 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA346730975 rs1573441665 RCV001024529 |
193 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212589 rs730881778 RCV001356798 RCV000160638 RCV000556928 CA021473 |
194 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001192168 RCV001859161 rs1672676776 |
194 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336227 rs1553350789 RCV000076622 |
195 | G>EETRTV* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750682 RCV002514359 RCV000565347 RCV000076646 |
196 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230370 RCV001764411 rs754478179 CA16610999 |
196 | P>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000629706 rs587782804 RCV000132363 CA021484 |
196 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000772140 RCV000480096 RCV000204459 CA348678 rs778573140 |
197 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000458204 RCV000566582 CA039407 rs778573140 RCV000780450 |
197 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000076648 RCV002354268 rs63750786 |
198 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491751 rs587779166 RCV001212954 CA021507 |
198 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579557 CA346731034 rs369685768 |
198 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001524492 RCV002465508 CA021513 rs63750327 RCV000076649 VAR_054513 RCV000986651 |
198 | E>G | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000580126 CA346731038 rs63751110 |
199 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854333 rs63751110 VAR_012937 CA021524 COSM3743812 RCV000076650 |
199 | C>R | liver Hereditary nonpolyposis colorectal neoplasms Lynch syndrome glioma; also associated with LYNCH1; no effect on MSH2 splicing [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1573441776 CA346731044 RCV001024745 |
199 | C>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160619 rs63751136 CA021530 RCV002354269 |
199 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811653 RCV002354270 RCV000076652 rs587779167 CA021536 |
200 | V>D | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731049 rs1558459684 RCV000694159 RCV002352150 RCV001771962 |
200 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167839 CA346731059 RCV000490947 |
201 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002245663 CA346731077 RCV000802482 rs1060502002 RCV000777440 |
202 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002230802 CA16610789 RCV001176848 rs1060502002 |
202 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1672678723 RCV001188992 |
202 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573441851 RCV001024884 CA346731086 |
203 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221014 rs587779973 VAR_043754 RCV000472250 RCV000409174 CA021564 RCV000115536 |
203 | G>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms CRC; unknown pathological significance; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA021582 RCV000076653 RCV002307390 RCV000815594 RCV003162499 rs63750574 |
204 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000491382 RCV001217475 CA346731096 rs770787472 |
204 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000565845 CA039475 RCV001229295 rs770787472 |
204 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000115537 rs63750574 RCV000411245 RCV002505033 RCV000215932 RCV000196378 CA021573 |
204 | G>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002354271 rs63749984 CA021588 RCV000076654 RCV001225117 |
205 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1553350951 RCV000567918 CA346731106 |
205 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46678574 rs63749984 RCV000526049 RCV001584241 VAR_068705 RCV000579804 |
205 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms shows no defects; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000076655 rs63750995 |
206 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553350946 RCV000501717 |
206 | T>missing | Carcinoma of colon [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218459 CA10577942 RCV000538468 rs876658623 RCV001551655 |
206 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750913 RCV001234172 |
207 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750913 RCV001858105 RCV000575601 CA46678596 RCV000723272 |
207 | A>S | MSH2-related disorder Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000771513 CA46678598 RCV000551509 rs63750913 |
207 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs1553350958 RCV000457919 RCV002365633 |
208 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346731131 rs1573441967 RCV000801033 |
208 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002552392 CA346731137 rs746013810 RCV001025053 |
209 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001025076 RCV000657461 RCV001356815 rs1553350966 RCV000527522 |
210 | M>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700532 rs769971586 CA039549 |
210 | M>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201925 rs1558459826 RCV002365905 |
210 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025085 RCV000705112 CA346731176 rs1558459826 |
210 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486574 RCV000122991 CA021618 RCV000222170 rs587780689 |
211 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491117 rs1114167821 |
212 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025185 rs1573442039 |
213 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025203 rs63751622 RCV000076656 |
213 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356461 rs1553350974 RCV000580400 CA346731211 RCV002529101 |
213 | L>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001139361 rs1553350974 |
213 | L>R | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076657 rs63751695 |
214 | R>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563062 rs1553350980 CA346731212 RCV001221191 |
214 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565649 RCV001556775 RCV000204214 CA039588 rs763298811 |
214 | R>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346731214 RCV001858104 rs763298811 RCV000572655 |
214 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025260 rs1573442100 RCV001390171 |
215 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558459882 RCV000697395 |
215 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986652 rs1558459885 RCV000708827 |
215 | Q>missing | Lynch syndrome 1 Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003150809 rs63751274 RCV000657646 CA021638 RCV000076658 RCV002463636 RCV001854334 RCV002362713 |
215 | Q>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Mismatch repair cancer syndrome 2 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000774471 CA039951 CA346731616 rs63749936 |
216 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV000166268 CA021697 rs786203108 RCV001210141 |
216 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003159097 rs63749936 VAR_012938 CA021692 RCV000216132 RCV000541467 |
216 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance; shows slightly reduced mismatch binding or release efficiency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000076676 RCV001214810 rs63751602 RCV000492017 |
217 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357518 RCV000581080 rs1553351554 |
217 | I>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001264589 rs587779170 RCV001386603 RCV000076677 RCV001025372 CA021710 |
218 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001535531 rs1558461615 RCV000696620 |
219 | R>missing | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581999 RCV000233640 rs878853821 |
219 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809885 CA346731698 rs1573446496 |
220 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002365989 rs1672816231 RCV001218597 |
221 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558461638 RCV000697827 CA346731713 |
221 | G>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731733 rs763720908 RCV000561573 |
222 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001526843 RCV000571885 rs1060501992 CA16610792 RCV000473169 |
223 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558461660 RCV000781554 CA346731750 RCV001370341 |
223 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000684803 RCV000662390 CA021724 rs587779171 RCV000569759 |
224 | I>M | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237244 rs1672817021 RCV001751467 |
224 | I>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629962 CA346731803 RCV000563294 rs1553351576 |
225 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563305 RCV001040053 rs1553351576 CA346731808 |
225 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076679 rs587779172 |
226 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233350 rs1672817581 |
226 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573446614 RCV000804880 |
227 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558461683 RCV000819150 RCV000776140 |
227 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865531 RCV001269751 rs587782537 RCV000491538 |
227 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756809051 CA040008 RCV002560905 RCV001187160 |
227 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001857771 CA10577944 rs876658956 RCV000218499 RCV000685101 CA346731861 |
227 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200313142 RCV000529941 CA040044 RCV001180426 |
228 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000115539 rs63749897 RCV000801666 |
229 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076680 CA021947 rs587779173 |
229 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000202204 RCV001025755 RCV000627708 RCV000076682 RCV000491369 RCV001175575 RCV000524417 rs63749897 RCV001353660 RCV000076681 RCV001353749 |
230 | A>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750364 RCV000491983 RCV000503686 |
230 | A>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553351592 RCV001875849 RCV001177474 |
230 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553351592 RCV000687213 CA346731904 |
230 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222948 rs1672818590 RCV002366004 |
230 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553351592 CA346731902 RCV000629696 |
230 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779174 RCV000076683 |
231 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557656 rs1384841612 CA346731911 |
231 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000564448 CA346731917 rs1384841612 |
231 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001223404 RCV001358434 rs63750426 RCV000076684 RCV002362716 |
233 | S>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022041 RCV001551502 RCV000465942 rs587781724 RCV000129911 |
233 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000986653 RCV001035463 CA346731983 rs587781724 |
233 | S>F | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1672819805 RCV001320782 |
234 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629704 RCV002233918 RCV000777452 CA346731985 rs1212577306 |
234 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs730881773 RCV000160625 RCV000562874 RCV000473583 CA022053 RCV000663301 |
234 | T>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002515630 RCV000219363 CA10577945 rs730881773 |
234 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000796830 RCV001025919 CA346731986 RCV001280926 rs1212577306 |
234 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs281864944 RCV000484029 RCV000491296 RCV000688140 RCV000076686 |
235 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025957 CA040162 RCV000559155 RCV002248760 rs749442037 RCV001770405 |
235 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491748 rs281864944 RCV000076687 |
236 | D>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732040 RCV002367769 RCV000535190 rs1553351613 |
236 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215228 CA10577946 RCV001220244 rs876660490 |
236 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579435 rs1064793655 CA16617560 RCV000486985 |
236 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491063 rs1114167807 |
237 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022070 RCV000543104 RCV000115540 COSM26089 rs63751307 RCV000567353 |
237 | I>V | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs63751288 RCV000076688 |
238 | Y>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026090 CA346732082 rs369670665 RCV001862352 |
238 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000583255 rs1553351618 RCV000691466 CA346732073 |
238 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230355 RCV001026074 rs1060501987 CA16611002 |
238 | Y>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553351618 CA346732076 RCV000793508 |
238 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076690 rs63750690 |
239 | Q>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750488 RCV000410998 RCV000076689 RCV001358384 CA022086 RCV000561407 RCV000629942 |
239 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs63750488 RCV002291632 RCV001026093 RCV001843521 RCV000456715 CA16610793 |
239 | Q>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001026108 CA346732090 rs199676483 |
239 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000708828 RCV000198252 RCV000491808 RCV000656873 CA022091 rs199676483 RCV000160626 RCV000411135 |
239 | Q>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696158 CA346732123 rs878853822 |
240 | D>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001553593 RCV002372253 RCV000232965 CA10582000 rs878853822 |
240 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346732114 RCV001186606 rs1157156506 RCV001054112 |
240 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1573446832 RCV001026171 |
241 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1410859610 RCV002248793 CA346732138 RCV000580549 RCV000698369 |
241 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001026168 rs1410859610 CA346732136 |
241 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346732141 rs1410859610 RCV000536657 |
241 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000076692 rs587779176 |
242 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319890 RCV000571179 rs1553351634 CA346732152 |
242 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457050 rs748427458 RCV000519119 RCV000775712 CA16611006 |
242 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000227866 CA040185 RCV000235996 RCV001026208 rs779051492 |
242 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000131412 RCV000781566 RCV000524419 RCV000479306 RCV001357533 CA022108 rs63751455 RCV000411200 |
243 | R>Q | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138857091 RCV000466771 RCV001821275 CA040214 RCV001591088 RCV000570120 |
243 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000215038 rs876660655 |
244 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553351651 RCV000568534 |
244 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000503541 rs1553351657 CA346732192 RCV002304210 |
244 | L>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001346084 RCV001178629 rs864622271 RCV000481717 CA16617561 RCV000204389 CA348622 RCV001865483 |
245 | L>F | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001046594 rs1672823951 |
245 | L>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076694 rs63750107 |
246 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750881 RCV000076696 CA022126 |
246 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750881 RCV001026328 CA346732225 RCV000630037 |
246 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218951 rs1672824851 |
246 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_043755 RCV002380341 rs63750881 CA022120 |
246 | K>Q | Hereditary cancer-predisposing syndrome LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002265598 RCV000630103 RCV000235646 rs587779178 CA022149 RCV000491084 |
248 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002230809 rs1060502022 CA16610847 |
248 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779178 RCV001856149 RCV000777558 CA346732278 |
248 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000757471 CA16617562 RCV001046068 RCV001824799 rs1064794704 RCV000775779 |
248 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000076699 RCV000164791 rs63749832 RCV001380410 |
249 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854870 rs786201568 RCV000236461 CA10584209 |
249 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568266 RCV000808962 CA346732298 rs61756464 |
249 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053129 RCV000484112 rs61756464 RCV000566386 CA16617563 |
249 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490946 RCV000204356 RCV001527063 CA348603 rs864622183 |
250 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022167 RCV001850305 RCV000164807 rs730881779 |
250 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346732311 RCV001865717 rs864622183 RCV000569886 |
250 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393564 rs63749832 RCV001228714 |
251 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562875 RCV000236679 RCV001040201 rs147389443 CA040269 |
251 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
CA022185 RCV000076700 RCV000808434 RCV000491026 rs63750347 |
252 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068501 rs763639520 RCV001853524 RCV000213414 CA040292 |
252 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000221892 RCV000538161 RCV001139363 rs370906735 CA10577948 |
252 | Q>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000230625 CA040278 rs370906735 RCV000564902 RCV001557291 |
252 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs267607931 RCV000076701 |
253 | M>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076702 RCV002390229 rs63751160 |
253 | M>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610795 RCV000467943 RCV001171949 rs1060502021 RCV000568397 |
253 | 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 |
|
RCV001342365 rs1672827889 RCV001177558 |
253 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779179 RCV000076703 |
254 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732382 rs1558462016 RCV000795234 RCV000774994 |
254 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076705 rs63750329 |
255 | S>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA040330 RCV000526634 RCV000757937 rs761529282 RCV000222095 |
255 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA040340 RCV000766744 RCV000234549 RCV000519279 RCV001026663 rs763184168 |
255 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346732397 RCV001222036 RCV000562138 rs761529282 |
255 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA46681579 RCV000569705 RCV000686630 RCV001531918 rs763184168 |
255 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000196535 RCV000662661 rs377403073 RCV000160627 RCV000491536 RCV002265637 CA022219 |
256 | A>T | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779181 RCV000076706 |
257 | V>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691649 RCV000218493 rs876659357 CA10577949 |
257 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672830111 RCV001192240 |
258 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002473173 rs755965129 RCV001043350 RCV002409402 CA040395 RCV003117718 |
258 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs866818044 RCV001177728 RCV001875856 |
259 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128997 RCV000235651 rs587781294 RCV001762285 CA022230 RCV000759122 RCV000228319 RCV001269353 |
259 | P>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002411970 rs1672830765 RCV001304598 |
260 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001389139 RCV000168130 rs786204144 |
261 | M>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046671 rs1226778440 CA346732485 RCV001181187 |
261 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002516464 rs786201941 RCV000164484 CA022236 |
261 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539072 rs63749969 RCV001582562 CA022248 RCV002408599 |
261 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16611007 rs786201941 RCV002230368 RCV002411459 |
261 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754820584 RCV000473312 RCV001180427 CA040426 RCV000587461 RCV001026892 CA16611010 RCV001316892 |
262 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000554397 CA346732493 rs1553351739 |
262 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700085 rs1558462101 CA346732502 RCV001026881 RCV001811450 |
262 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001531919 RCV000076708 rs63751614 |
263 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659858 CA10577950 RCV000221912 RCV002519711 |
263 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001236143 rs1553351743 |
263 | N>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003128606 rs878853823 CA10582001 RCV001026925 RCV001193895 RCV000231079 |
263 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000630213 CA346732512 RCV002463724 rs1553351743 |
263 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167814 RCV000491259 |
264 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582002 RCV000235710 RCV000233889 RCV000563208 rs878853824 |
264 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076712 rs587779183 CA022289 |
264 | Q>H | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418851 rs730881780 RCV001247094 |
264 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160640 RCV001184011 rs730881780 RCV000798669 CA022268 |
264 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001853922 RCV000582876 CA346732736 rs1553352377 |
265 | V>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026980 rs1553352377 CA346732737 RCV000808406 |
265 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_004475 | 265 | V>del | LYNCH1 [UniProt] | Yes | UniProt |
|
rs63749902 RCV000076723 |
266 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781745 RCV000816863 CA346732745 |
266 | A>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167887 RCV000629850 RCV000492013 CA346732742 |
266 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781745 RCV000212590 CA022328 RCV000129950 RCV000630072 |
266 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001249913 rs563410947 RCV002570409 RCV002418857 |
268 | S>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659298 CA10577951 RCV000707694 RCV000219123 |
268 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002230810 RCV001027097 RCV001358282 rs563410947 CA040677 |
268 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002418232 RCV000411532 RCV001861407 CA16042056 rs63750058 |
269 | S>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022333 RCV002415568 rs63750058 RCV000822527 |
269 | S>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346732763 rs1573451078 RCV001066735 RCV001027174 |
270 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA040694 RCV000544343 rs758403441 RCV002289719 RCV001764526 |
270 | L>V | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001000069 RCV000410668 RCV000757472 rs587779185 RCV000627723 RCV001354544 RCV000491865 RCV000076726 |
271 | S>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806816 RCV002422767 rs1573451108 |
271 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002415569 rs63751133 RCV000076725 |
271 | S>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205795 RCV000481152 RCV001180058 rs139891783 CA349912 RCV000657148 |
271 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000214470 rs139891783 CA10577954 RCV003156236 RCV000819833 |
271 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001209171 rs1672945766 |
272 | A>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780445 RCV001869152 rs1558463956 CA346732768 RCV002422667 |
272 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003149609 RCV000212591 RCV001357272 VAR_043756 RCV000034559 rs34136999 RCV000148632 RCV000115542 CA022356 RCV000663110 RCV000076728 RCV001081902 |
272 | A>V | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance; shows slightly reduced mismatch binding or release efficiency; results in partial MSH2 exon 5 skipping; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000558255 RCV000566262 rs144288433 RCV000656874 RCV001250426 CA040789 RCV000480961 |
273 | V>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs530814648 CA040766 RCV001356679 RCV000458697 RCV000564711 RCV000236426 |
273 | V>I | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000205875 rs864622261 |
274 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371944271 RCV001247238 |
274 | I>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071692 rs781569442 RCV000567448 CA46683968 |
274 | I>M | 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 |
|
CA022377 RCV000198455 RCV000663108 rs371944271 RCV001248898 RCV000167160 RCV000587804 |
274 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040054 rs1672946564 |
275 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553352435 CA346732785 RCV000572757 |
275 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672946845 RCV001297688 |
276 | F>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203424 RCV001205245 RCV000771344 CA16610850 RCV000166723 CA022392 RCV000475241 |
277 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672947148 RCV001190396 |
278 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794209 rs1558464008 RCV001017577 CA346732804 RCV001811486 |
278 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV001319787 rs1672947364 |
278 | E>G | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA346732803 rs1558464008 RCV000691153 RCV002440449 |
278 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076732 rs63751159 |
279 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546763 CA346732812 rs1024743168 |
279 | L>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000122993 RCV000409770 rs375351205 RCV000131260 RCV000237042 CA022395 RCV000656875 |
279 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000583805 RCV001383193 RCV000076733 rs63750091 |
280 | L>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321043 rs1672948461 |
280 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573451339 CA346732817 RCV001017704 |
280 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076734 RCV000491522 RCV000205315 CA022416 CA349474 RCV003155123 rs63749991 |
281 | S>* | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779977 RCV001017743 RCV000629878 RCV000115543 CA022412 |
281 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002442461 rs587779977 CA346732821 RCV000695011 |
281 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000589167 rs1553352462 RCV001853978 RCV002448820 |
282 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732826 RCV002528138 rs587779978 RCV002265806 RCV000570588 |
282 | D>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1254906246 CA346732829 RCV000559741 |
282 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA022423 RCV000115544 rs587779978 RCV000472973 RCV001193849 RCV000212593 RCV000663090 |
282 | D>G | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA040894 rs760432160 RCV000805216 RCV001766675 |
282 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770643326 RCV000564270 RCV001364586 CA346732833 |
283 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750381 RCV001348082 |
283 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770643326 RCV000535784 CA040911 |
283 | D>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750381 RCV003165200 CA022428 VAR_043757 |
283 | D>Y | Hereditary cancer-predisposing syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000492031 rs1114167860 |
284 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA040934 rs776501892 RCV001858630 RCV001180429 RCV000985816 |
284 | S>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750701 RCV000076736 |
285 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577957 RCV000506029 RCV000548278 rs759242666 RCV000213764 RCV002243895 |
285 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502031 RCV000473498 CA16611014 RCV001017978 |
285 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060502031 RCV000810406 CA346732844 |
285 | N>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000584264 rs1553352474 |
286 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1672950637 RCV001307180 |
286 | F>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076737 rs63750276 RCV002444540 CA022437 RCV000115545 RCV001053401 |
287 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000588299 RCV000131790 CA022444 rs587782567 RCV000855651 RCV000688511 |
287 | G>A | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 9.239e-05 impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA346732857 RCV001772192 rs587782567 RCV001018085 RCV001042612 |
287 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002447375 RCV001326478 rs63750276 |
287 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076739 RCV001854339 rs587779189 |
288 | Q>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000030255 RCV001034633 rs193922375 RCV000162420 |
288 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484173 RCV001183048 RCV000076738 rs63750097 RCV000528830 CA022450 |
288 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001242029 rs63750097 |
288 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043112 rs1672951706 |
289 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502003 CA16611016 RCV001176501 RCV000457528 |
289 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491672 RCV001509153 rs1114167848 RCV001204961 |
290 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375318 rs1672951706 RCV001269126 |
290 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001851197 rs1064794809 RCV000484912 RCV000491867 |
290 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165329 RCV001854340 RCV000763488 rs587779190 RCV000076740 CA022458 |
290 | E>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001183554 RCV000480117 RCV000229699 CA10582005 rs878853827 |
291 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629801 rs587779191 RCV000076741 RCV000575858 RCV000657243 |
292 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018265 rs1573451595 |
292 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002376992 rs104895022 CA346732884 RCV000535003 |
292 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895022 RCV000689407 CA346732885 |
292 | T>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000115546 RCV000699802 rs104895022 RCV001800400 CA022468 RCV000114837 |
292 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800562 RCV000478647 rs1553352505 RCV002376879 |
293 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751115 RCV000076742 |
293 | T>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565509 rs1296650088 RCV000697645 CA346732890 RCV001653929 |
293 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001182130 rs1672952916 |
293 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773887 rs63751115 |
294 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553352511 CA346732899 RCV000562750 |
294 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553352511 RCV001177805 |
294 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469366 RCV000220130 RCV000589679 rs201334592 CA041012 RCV000411007 |
295 | D>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779192 RCV002444541 RCV000076743 |
296 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577958 RCV000214812 rs876659918 RCV000659880 RCV001067169 |
296 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817380 CA346732913 rs1573451658 |
296 | F>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018431 CA915943892 rs1573451662 |
296 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346732918 RCV000759124 RCV002370015 rs1558464271 |
297 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672953801 RCV001042160 |
297 | S>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551236465 RCV000563882 RCV000236690 CA10584210 RCV000456430 |
297 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA022486 RCV000490887 rs63750934 RCV000076744 RCV000629714 RCV001357211 RCV000677887 RCV000478579 |
298 | Q>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Sigmoid colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001354398 rs587781397 RCV002228472 CA022491 RCV000701906 RCV000129243 RCV003153414 |
298 | Q>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346732927 RCV000571615 rs267607998 |
298 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000236542 RCV002444936 CA10584211 rs879254104 RCV001056344 |
299 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558464315 RCV000758588 RCV001018555 RCV000687665 CA346732933 |
299 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076745 rs63750885 RCV002514360 RCV000491733 |
300 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022513 RCV001202065 RCV000131729 RCV000487151 RCV001182806 rs587782530 |
300 | M>I | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000160578 RCV002444666 RCV000203837 CA022496 rs730881753 |
300 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854341 RCV003144124 CA022518 RCV002371917 RCV000076746 rs63749915 |
301 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749914 RCV000076747 RCV000412047 RCV001224865 CA022523 RCV002444542 |
302 | L>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232714 rs786202947 |
302 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001800735 rs876660115 CA346732951 RCV000573534 RCV000527981 |
302 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749914 RCV000582213 CA10577960 RCV000630009 RCV000217750 |
302 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235124 rs1064793654 |
303 | D>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000540995 RCV001185309 RCV001550959 CA46684227 rs1021303606 |
304 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698160 CA346732962 rs1558464351 |
304 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1672955848 RCV001206503 |
305 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001380946 RCV000485998 RCV000197610 rs863224833 |
305 | A>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850359 rs786203604 RCV000166990 |
305 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_004476 rs63751454 RCV000115547 RCV000148633 RCV001193245 RCV000656876 RCV000076748 CA022539 RCV001084038 |
305 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; normal mismatch repair activity [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751600874 RCV000584157 CA346732971 |
305 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001249910 rs1672956184 |
306 | A>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553352536 RCV001068558 RCV000587280 CA346732977 |
306 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071448 rs1672956447 |
307 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750046 RCV001795049 RCV000076749 |
308 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579838 rs1553352545 RCV001853880 CA346732987 |
308 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346732991 rs781257094 RCV000758647 RCV001019096 |
309 | A>P | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001052546 rs781257094 CA041137 |
309 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001052685 RCV000076750 RCV000491370 CA022549 rs63750640 |
310 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022554 rs63750640 RCV000524912 RCV000567639 RCV000076751 |
310 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272182 RCV000213689 rs750866402 CA041152 RCV001234686 |
310 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779979 RCV001193288 RCV000232943 RCV000115548 RCV000491121 |
311 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002374879 rs1064793179 RCV000481846 RCV002469164 |
311 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541906 CA346733003 rs1553352559 |
311 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607937 RCV000630068 |
312 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629735 rs756398636 CA346733007 |
312 | L>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000662459 RCV000205023 rs756398636 CA041178 RCV000565881 |
312 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA041188 RCV000461288 rs780656204 RCV000219588 |
313 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001242729 RCV002376993 rs796532309 RCV000554933 |
314 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693833 rs1114167845 CA346733020 RCV000491147 |
314 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346733025 rs587779197 RCV000568723 |
314 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs202026056 RCV001180431 CA041786 |
315 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001818212 RCV001355677 RCV000034560 RCV000491220 CA022611 rs202026056 RCV001082682 RCV000781990 |
315 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001593184 RCV001860945 RCV001019382 rs876660241 CA346733039 |
316 | S>F | 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 |
|
rs1553353101 RCV000630064 CA346733036 |
316 | S>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577961 rs876660241 RCV001853620 RCV000215054 |
316 | S>Y | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001066497 rs1673066717 |
319 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733056 RCV002524919 RCV001190706 RCV000505914 rs786204185 |
319 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10577962 RCV000468329 RCV000216318 rs876660605 |
319 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022616 RCV000168245 RCV001019487 rs786204185 |
319 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002230806 CA16610855 RCV000580506 rs876660605 |
319 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749852 RCV002463637 RCV000076763 |
320 | T>missing | Lynch syndrome 1 Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057683 RCV002379573 rs1673067879 |
320 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491806 rs1114167825 |
320 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771481 CA041811 RCV001044734 rs368982417 |
320 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1064794010 RCV001064540 CA346733061 RCV000561499 |
320 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16617572 RCV002525807 rs1064794010 RCV000484006 RCV002257761 |
320 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000507964 rs1553353114 RCV000820128 |
321 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214262 rs587781550 CA346733062 RCV000986663 |
321 | T>A | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781550 RCV001041405 CA022632 RCV000129564 |
321 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582006 RCV000233408 rs587781550 |
321 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581531 CA346733064 rs1233448699 RCV000813559 |
321 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_004477 rs4987188 COSM26086 RCV000144615 RCV001083998 CA022645 RCV000001832 RCV001262750 RCV001353916 RCV000030257 RCV000157760 RCV000034561 RCV000121567 |
322 | G>D | lung Carcinoma of colon MSH2 POLYMORPHISM Breast carcinoma large_intestine Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome may be associated with increased colorectal cancer susceptibility; shows significantly decreased repair efficiency when associated with variant E-487 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000199307 RCV000167081 CA022638 RCV000588197 rs773301485 |
322 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs4987188 RCV003150951 RCV000203979 CA022651 RCV001357874 RCV000482522 RCV000131668 RCV000410421 |
322 | G>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000524426 RCV000412467 RCV000222150 RCV000480555 RCV000148634 VAR_012939 CA022662 rs63750732 |
323 | S>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000166896 RCV000472836 CA022667 RCV000662856 RCV000590192 rs63750732 |
323 | S>F | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA022656 rs63750732 VAR_043758 |
323 | S>Y | LYNCH1; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1673070318 RCV001040468 |
324 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194002 RCV000076767 RCV002381388 RCV001385672 rs63751044 |
324 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201985 rs63750502 CA022678 COSM252620 RCV001050003 RCV000076766 RCV001019659 |
324 | Q>* | ovary Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000796977 RCV002370088 rs63750502 CA346733073 |
324 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1028144634 CA46686955 RCV000772476 |
324 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076771 rs63749945 |
325 | S>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733080 rs1573456278 RCV001019697 |
325 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001249914 rs1673072429 |
327 | A>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685609 rs1558466434 |
327 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773796 CA346733088 rs1558466437 |
327 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA346733093 RCV000558066 rs1553353141 RCV000573271 |
327 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_068706 CA041952 RCV001229515 RCV000662549 RCV001019794 rs753237286 RCV001584524 |
328 | A>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms shows significantly decreased repair efficiency when associated with variant S-127; presumed to enhance cancer risk considerably when associated with variant S-127 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002376994 rs753237286 CA041968 RCV000534102 |
328 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000852299 RCV001584155 RCV000575104 RCV000663211 rs753237286 RCV000457800 CA16610859 |
328 | A>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA041989 RCV001245140 rs780602406 RCV001019798 |
328 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001321787 CA46686989 rs933434691 |
329 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553353157 RCV000820636 RCV000569561 CA346733102 |
330 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076775 rs63750630 RCV001554291 CA022706 |
330 | L>P | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491473 rs1114167813 |
331 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662836 RCV000524429 RCV000790630 RCV002483126 rs267607938 RCV000130283 RCV000588648 CA022711 VAR_054514 |
331 | N>D | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; no effect on MSH2 splicing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA042047 RCV000629913 rs779673318 RCV002483525 RCV000572560 RCV000708829 |
331 | N>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1673074249 RCV001347140 |
332 | K>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733123 RCV002386370 RCV000791505 rs63750828 RCV002249499 |
333 | C>F | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002280101 RCV000076777 RCV000491354 CA022717 rs63750468 |
333 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002384007 RCV000521057 rs1553353167 CA346733125 |
333 | C>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001535593 RCV002281913 RCV000630153 RCV000160579 rs63750828 VAR_043759 RCV000216069 CA022722 RCV000076778 |
333 | C>Y | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587779063 CA016794 RCV002321565 RCV000075993 |
334 | K>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779063 RCV001176164 |
334 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1673075031 RCV001222222 |
334 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284004 RCV002402809 rs1673074932 |
335 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_043760 CA016806 RCV001344528 rs63750602 RCV000236871 |
335 | T>I | Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001853588 RCV000219614 CA10577963 rs63750602 |
335 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000075996 RCV002426633 rs587779064 |
336 | P>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000663094 CA016816 RCV002415551 rs63751062 VAR_043761 |
336 | P>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002230357 CA16610802 rs63751062 |
336 | P>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000235596 RCV001194029 rs879253899 RCV002229668 |
337 | Q>missing | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549918 rs587779064 |
337 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1215558 RCV000153512 RCV000075997 CA016831 RCV001215910 RCV000215536 rs63750778 |
337 | Q>* | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000462262 RCV001800676 CA16611022 RCV001016976 rs63750778 |
337 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733142 RCV000805814 RCV000566822 rs1553353190 |
337 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000663023 rs587779065 CA349698 RCV001320681 RCV000205553 |
338 | G>A | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779065 CA016852 RCV000075999 RCV002354266 RCV001250033 |
338 | G>E | Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016843 CA10577964 RCV000255930 RCV001232403 RCV002345383 RCV000500876 rs63751004 RCV002228181 RCV000218258 |
338 | G>R | Carcinoma of colon Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002352132 RCV000689433 rs587779065 CA346733147 RCV001269518 |
338 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733150 rs1558466577 RCV002334414 RCV000755026 |
339 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000470591 CA16610860 rs1060502006 |
339 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076001 RCV001353842 rs63750703 RCV000076000 |
340 | R>missing | Carcinoma of colon Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733155 RCV001247822 rs1553353205 RCV000582178 |
340 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067944 rs1673077413 |
340 | R>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571086 CA346733165 rs748115066 RCV002528136 |
341 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA016875 RCV000076002 RCV001213427 rs63751147 |
341 | L>P | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733167 RCV000583630 RCV000803709 rs63751147 |
341 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000236110 rs748115066 RCV000232111 RCV000220354 RCV000662429 CA026646 |
341 | L>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000206764 RCV000478573 RCV000491587 RCV001193997 rs864622340 |
342 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001354213 RCV000571922 rs63749879 CA016883 RCV000807942 VAR_043762 RCV001577482 |
342 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000115492 rs587779961 RCV000562717 CA016891 RCV000467692 |
343 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501995 CA16610781 RCV002230800 |
343 | N>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750245 RCV001224622 RCV001009753 RCV000030234 CA016912 RCV000759091 |
344 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016922 RCV000473165 rs375799148 RCV000163983 |
344 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000144617 rs63750245 CA016899 |
344 | Q>K | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001849942 rs587782374 RCV000131364 RCV001526939 |
344 | Q>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1673078633 RCV001065068 |
344 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751027 CA016934 COSM133153 RCV000076004 RCV002390221 RCV001250028 RCV000691659 |
345 | W>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001854313 COSM133153 RCV000492045 CA016940 RCV000202230 rs63750396 RCV001258035 RCV000076005 RCV001193248 |
345 | W>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Variant assessed as Somatic; impact. Hereditary nonpolyposis colon cancer breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1558466616 CA346733190 RCV000758648 |
345 | W>G | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553353226 RCV000629805 |
345 | W>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1673079391 RCV002393533 RCV001221252 |
346 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035856 rs1673079599 |
347 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751483 RCV000076006 |
347 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733210 RCV001064747 rs1302487476 RCV000580199 |
347 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167809 RCV001383958 RCV000490958 |
348 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759092 RCV000564451 rs1553353233 |
348 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538358 RCV001800712 CA346733213 rs979212552 RCV000491540 |
348 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002395656 RCV000629916 rs979212552 CA46687201 |
348 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410781 rs773177076 RCV000167409 RCV000700524 RCV003128589 CA016968 RCV001355074 RCV001731496 |
348 | Q>R | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001844030 RCV000148635 RCV000128932 RCV001085377 RCV000588936 rs267607939 RCV002279934 RCV000764423 RCV000076007 CA016975 RCV000986664 |
349 | P>A | Papillary renal cell carcinoma type 1 Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000076009 rs587779067 RCV000508278 RCV000694503 VAR_043763 CA016990 RCV000217955 |
349 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002399451 RCV000076008 rs587779067 RCV000490568 CA016981 |
349 | P>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658822113 rs1558466685 RCV000680197 |
349 | P>R | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607939 CA346733218 RCV000579738 RCV001764698 |
349 | P>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001355929 rs267607939 CA16617573 RCV000480250 |
349 | P>T | Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001317782 RCV000572143 CA026659 rs771126636 RCV001538787 |
350 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346733221 RCV000694172 RCV000567679 rs771126636 RCV000759093 |
350 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016998 CA026678 RCV000817415 rs373122667 RCV000131405 RCV000552818 |
351 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346733228 rs1553353246 RCV000540332 |
351 | M>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733227 rs1553353246 RCV000580084 RCV001295389 COSM1408252 |
351 | M>T | large_intestine 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 |
|
RCV000236711 rs138026880 CA026663 RCV000571142 RCV000527880 |
351 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1573456772 RCV000986665 |
353 | K>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779068 RCV000076010 |
354 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017011 rs730881754 RCV002408719 RCV000160580 |
355 | R>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000491858 rs1114167867 |
356 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563990 RCV002528140 CA346733264 rs753075410 |
356 | I>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000504429 CA346733265 RCV002413373 rs753075410 |
356 | I>R | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA026695 RCV000221673 rs753075410 RCV000630040 |
356 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000168008 rs150503781 RCV000568153 RCV000662371 RCV001553594 CA017027 RCV000236761 |
357 | E>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001065111 rs587781617 CA017034 RCV000129706 |
357 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779069 RCV000629705 CA017022 RCV002408591 |
357 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558466769 RCV000772798 |
358 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781775 RCV000212597 CA017043 RCV000130016 |
358 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321827 RCV002282243 CA346733277 rs1477257356 TCGA novel RCV000582679 |
358 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar dbSNP gnomAD NCI-TCGA |
|
CA017051 RCV000076012 rs587779070 |
359 | R>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575936 CA026864 RCV000629803 rs63751604 |
359 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000076034 CA017208 RCV001230748 RCV002415553 VAR_043764 rs63751617 |
359 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; shows a decreased expression level of the MutS alpha complex; associated with an abnormal subcellular localization pattern [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000132158 RCV000225952 RCV001249911 RCV001192615 CA017103 rs63751604 |
359 | R>T | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491086 RCV001851344 rs1114167858 |
360 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346733520 RCV001009864 rs1573484125 |
360 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1673928022 RCV001249919 |
361 | N>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574719 RCV000629732 CA017221 rs587779072 |
361 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733530 RCV001017219 rs587779072 |
361 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228953 rs1422479161 RCV002429974 |
362 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377345366 RCV000479898 RCV000561329 CA026946 RCV001821392 RCV000629790 |
363 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377345366 RCV002424837 RCV000798648 CA346733540 |
363 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000202167 RCV002444820 rs863225385 |
364 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558478136 RCV001186447 RCV002559937 |
364 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814890 rs1573484215 CA346733551 |
364 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558478136 RCV002534071 RCV000773502 CA346733547 |
364 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570716 rs1553356538 CA346733550 |
364 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733556 RCV001867894 RCV002465719 rs1242235025 RCV000560989 |
365 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346733557 RCV000772266 RCV002469260 RCV000689132 rs1242235025 |
365 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1242235025 RCV000630140 CA346733558 RCV000571051 |
365 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000076038 rs267607693 |
366 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076039 RCV002444537 rs587779073 |
366 | F>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1673930437 RCV001230494 |
366 | F>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701996 CA026973 rs770956016 |
367 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA46702486 RCV000546747 RCV001561760 RCV000776438 rs80285180 VAR_068707 |
367 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms shows no defects; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV002451558 RCV001233645 rs1673931379 |
368 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438288 rs1553356552 CA346733574 RCV000558020 |
368 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002274078 CA346733575 rs1553356552 RCV001017318 RCV000629953 |
368 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066046 RCV001009904 CA346733580 rs1573484275 |
369 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749814 RCV000076040 |
370 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139652783 RCV002451428 RCV001205089 |
370 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017344 RCV000529519 CA16617574 RCV000480197 rs1064794109 |
370 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000685845 CA346733591 rs1060501994 RCV002440422 |
371 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733590 rs1060501994 RCV002529243 RCV000581905 |
371 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610803 RCV002230799 rs1060501994 |
371 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438816 rs1673933288 RCV001351630 |
372 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002433999 CA346733598 RCV000818322 rs1573484336 |
372 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579817 rs770201760 RCV000821374 CA027000 |
372 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750516 RCV002262620 RCV000076042 |
373 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002229159 CA348813 rs864622254 |
373 | R>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017387 CA346733605 rs864622254 |
373 | R>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733607 rs1553356567 RCV000630011 |
373 | R>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001385293 RCV000162405 RCV002272052 CA017272 RCV000076043 rs63750558 RCV001800373 |
374 | Q>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045289 CA017281 RCV000115493 rs370378607 RCV000580948 RCV000122979 RCV001189516 |
374 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001858854 CA346733611 rs749660228 RCV002434382 |
374 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001355857 RCV001080950 RCV000483512 RCV001093680 CA027012 rs749660228 RCV001175089 RCV000213803 |
374 | Q>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000216074 RCV001582711 rs774539871 CA027026 RCV000206649 |
375 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10613576 RCV000364511 rs774539871 |
375 | T>S | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000166624 rs786203350 |
376 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447355 CA027034 RCV001320676 rs762385137 |
376 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000076044 rs63751219 |
377 | Q>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750267 CA017309 RCV000583364 RCV000076045 RCV001232220 |
377 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001038694 rs63750267 CA027045 |
377 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001017396 RCV000662583 RCV000479748 RCV000229489 RCV001193852 CA027052 RCV000708830 rs776174711 |
377 | Q>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1295803849 RCV001306995 |
378 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577967 rs876659404 RCV000218145 |
378 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1673935850 RCV001301749 |
378 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447183 RCV001237221 COSM176654 CA027070 rs764911657 |
379 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs63750039 RCV002321566 RCV000076046 |
380 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881755 RCV002457988 CA346733647 RCV000630006 |
380 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881755 RCV000203771 RCV000215764 RCV000780458 RCV000160581 CA017337 |
380 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733645 rs1558478310 RCV000686036 |
380 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573484556 RCV001017441 CA346733651 RCV001873296 |
381 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000583907 rs1553356594 |
382 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750496 RCV000076047 |
382 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855353 rs1553356605 RCV000657428 |
382 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761006 RCV000480571 RCV000546544 rs752373431 RCV000214618 RCV000409794 CA027079 |
382 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003149744 RCV000663061 RCV000703497 CA017350 RCV000487066 rs267607947 RCV000568561 |
382 | R>H | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003117508 rs752373431 RCV000708714 CA346733661 |
382 | R>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000221364 COSM330652 RCV001192613 rs63749849 RCV001249954 RCV000202261 CA017356 RCV000576748 RCV001257542 RCV000524330 RCV000763490 RCV000076049 |
383 | R>* | Lynch-like syndrome large_intestine Lynch syndrome 1 Rhabdomyosarcoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs376934727 CA46702652 RCV000583180 RCV000679283 RCV000702596 |
383 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376934727 CA027092 RCV000704685 RCV000490918 RCV001264478 |
383 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1573484581 RCV000791687 |
383 | R>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562289 rs1553356612 CA346733679 |
384 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180248 rs1673938031 |
385 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010007 CA46702663 RCV000519754 RCV000547472 rs763985746 |
385 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001538801 rs564736113 RCV001010013 CA017372 RCV000794953 VAR_067286 |
385 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs763985746 CA027104 RCV000584620 RCV001051652 |
385 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515115 RCV000160628 rs730881774 |
386 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805443 rs1573484655 |
386 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985791 RCV001858301 CA346733699 RCV000569958 rs1203515094 |
386 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346733690 RCV001219957 rs1419725521 RCV000761062 RCV002352272 |
386 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA027116 RCV000478467 RCV000559869 RCV000567051 rs751249745 |
387 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750485 RCV001010031 CA346733713 RCV001213443 |
387 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751249745 CA346733707 RCV000629973 RCV001010046 |
387 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000115494 RCV002255278 CA017391 RCV000409481 RCV003162491 RCV000076052 rs587779075 RCV000202008 RCV000524332 COSM330648 RCV001353542 RCV001332303 |
389 | R>* | Carcinoma of colon Turcot syndrome large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 2 Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000777090 rs757276241 RCV001772035 CA346733746 RCV001869116 |
389 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000629828 RCV000167351 CA017397 rs757276241 |
389 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000078420 RCV001094729 RCV000115495 CA017403 rs17224367 RCV000034549 RCV000076053 RCV001081498 VAR_004478 RCV003149606 RCV001355669 |
390 | L>F | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 and CRC; unknown pathological significance; may decrease mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17224367 RCV001853878 CA346733760 RCV000580665 |
390 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs864622674 RCV000630188 CA346733781 RCV001010124 |
391 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346733776 rs878853798 RCV000699127 |
391 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853798 RCV001589170 RCV000566323 RCV000662565 RCV000780444 CA10582008 RCV000227304 |
391 | A>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001367259 RCV000205082 CA349270 RCV000220404 rs864622674 |
391 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002329043 rs61756465 CA027158 RCV000473029 RCV001535616 |
392 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001246217 rs1673940784 |
392 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202154 rs863225386 CA279759 RCV002327056 |
393 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346733818 VAR_043765 rs1558478490 RCV000774424 |
393 | K>M | Hereditary cancer-predisposing syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000231260 CA10582009 rs863225386 RCV001183558 |
393 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017419 RCV000663103 RCV000212598 RCV000477595 RCV001818271 rs374135434 RCV000115496 |
394 | F>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA017425 RCV000076054 rs63750302 RCV002514347 RCV002326789 |
395 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001295164 rs63750302 |
395 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299434 RCV002341591 rs1032873228 |
395 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067947 RCV002339337 CA027173 rs779944676 |
395 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001385673 RCV001353639 CA017437 RCV002336224 rs63750611 RCV000076055 |
397 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000233011 RCV001269197 rs63750611 RCV001257466 RCV000160634 CA017431 RCV000491315 |
397 | Q>E | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357776 RCV000629900 RCV002267950 RCV000210074 rs768694189 RCV000482758 RCV000568248 |
397 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000583415 CA346733883 RCV001860086 COSM327052 rs1553356658 |
397 | Q>R | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000076057 rs63751169 |
398 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA46702776 rs988252817 RCV002225648 RCV000550490 RCV001141978 RCV002341256 |
398 | A>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003129864 RCV001143790 rs1060502019 CA16610785 RCV000458164 |
398 | A>V | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238740 rs1673943931 |
399 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63749850 RCV000076058 |
400 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574450 RCV001813789 CA346733945 rs1301023135 RCV001355796 RCV000819870 |
400 | N>K | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000210102 RCV001269797 RCV002347819 rs869312768 |
401 | L>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258037 rs1558478567 RCV000700856 |
401 | L>missing | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076062 RCV000684857 RCV000491476 rs63751413 |
402 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576682 RCV000538916 RCV000076060 RCV002345385 rs63750586 |
402 | Q>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076061 CA017497 rs63751412 RCV000490977 RCV001071140 RCV002469004 |
402 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010317 rs63751412 RCV002248492 RCV000255442 RCV000704303 CA10588342 |
402 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346733985 RCV000564335 RCV003222016 RCV000527423 RCV000823766 rs1553356673 CA346733981 |
402 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000663163 RCV000115497 rs63751412 RCV001193851 RCV000574856 CA017489 RCV000206195 |
402 | Q>K | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001876221 RCV001190284 CA346733975 rs1396150679 |
402 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000565827 rs1553356678 |
403 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782777 RCV000132311 |
404 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346734013 RCV000538728 rs1553356682 |
404 | C>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017512 RCV002527179 CA346734032 rs63751271 RCV002358382 RCV000076063 RCV000501259 RCV002354267 |
405 | Y>* | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000202291 RCV000677885 rs63751108 CA017519 COSM26100 RCV000524334 RCV000162489 RCV000030238 RCV000763491 RCV000001825 RCV003162204 |
406 | R>* | Carcinoma of colon large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 1 Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA346734041 COSM1408255 RCV000696098 rs146567853 RCV000580175 |
406 | R>L | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000765665 RCV001083003 RCV001798264 RCV000781558 RCV000212599 RCV000132166 RCV000411777 CA017527 RCV001356152 COSM168419 rs146567853 |
406 | R>Q | Breast and/or ovarian cancer large_intestine Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs63751192 RCV000076064 |
407 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491975 RCV000479156 RCV000629830 rs63751142 RCV001353606 RCV000076069 |
408 | Y>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076068 RCV001049389 RCV000491679 rs587779076 |
408 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780440 rs63750132 CA346734084 RCV000569136 |
408 | Y>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs63750379 RCV000571404 RCV001253505 RCV000076070 RCV000590753 CA017564 |
408 | Y>C | Turcot syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000172809 CA017571 RCV000693809 rs63750379 |
408 | Y>F | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000160629 RCV000524336 RCV000212600 RCV001554324 RCV000411649 rs63750086 RCV000076073 |
409 | Q>missing | Ovarian cyst Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001591350 CA346734091 rs151244108 RCV001853921 RCV000583444 |
409 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
CA10582010 rs151244108 RCV001185296 RCV000233684 RCV001319460 |
409 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA017589 RCV000587210 rs151244108 RCV002513805 |
409 | Q>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001010432 rs1573485191 RCV000794839 |
410 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657414 RCV002360676 rs1553356700 RCV000685327 |
410 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206567 rs587782242 RCV000130945 CA017600 |
410 | G>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812381 CA346734113 rs1354753753 RCV000567171 |
410 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002551730 RCV001010458 CA346734125 rs764825558 |
411 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1673948297 RCV001048718 |
412 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225387 RCV000490844 COSM26094 RCV000202046 CA279693 |
413 | Q>* | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs863225387 RCV001525110 RCV000552144 CA346734172 |
413 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532709 RCV000212601 RCV000515341 rs587779962 CA017617 RCV000115499 |
413 | Q>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA017631 rs587779078 RCV000566557 |
414 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582011 rs587779078 RCV002378969 RCV000230369 |
414 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751206 RCV000076076 |
415 | P>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027289 rs35717997 RCV000575986 |
415 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1463763476 CA346734211 RCV000792119 |
415 | P>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16610806 RCV000473948 RCV000780437 rs35717997 RCV000774562 |
415 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1573485356 RCV000816325 CA346734216 RCV002390660 |
416 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1386630417 CA346734223 RCV000629842 |
416 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63751059 RCV000076078 |
417 | V>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076077 rs587779079 |
417 | V>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001800565 CA10577969 RCV000216853 rs876659846 RCV001072003 |
417 | V>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046723 rs1673949938 |
417 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249925 rs1673950263 |
418 | I>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001584203 RCV000491211 rs1114167830 |
418 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853621 RCV000223560 rs763600083 CA027300 |
418 | I>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000765666 RCV000564423 rs751431238 RCV000200127 RCV001589078 CA027308 RCV003155118 |
418 | I>M | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA017664 RCV000700311 RCV000165047 rs786202303 |
418 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000695482 rs763600083 CA346734245 |
418 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA017677 RCV001383405 RCV000202277 RCV000076080 RCV001010574 rs63750006 |
419 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000076079 CA017670 RCV000986666 RCV001355791 RCV002504984 RCV001030708 VAR_012940 RCV000121568 RCV001079969 RCV003149745 RCV000160643 rs63750006 RCV000759096 |
419 | Q>K | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Lynch syndrome CRC; unknown pathological significance; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553356720 RCV001229618 RCV000491339 |
420 | A>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027329 RCV000572083 rs767609290 |
420 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002411758 RCV001205969 rs1673951633 |
420 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250022 rs1673951492 |
420 | A>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779080 RCV001044154 CA017690 |
421 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734277 RCV000814859 RCV001010603 rs63750228 |
421 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000698998 rs63751667 |
422 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002408592 CA017696 rs63751712 RCV000076083 |
422 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230815 RCV002446813 rs63751712 CA16610807 |
422 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA027338 RCV000547106 RCV000774563 rs201059765 |
423 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000144623 rs587783055 |
424 | H>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076084 rs63751667 |
424 | H>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580233 rs1553356754 CA346734297 |
424 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017719 RCV000034550 RCV000662477 RCV000234353 RCV000579677 rs200429136 |
424 | H>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131137 RCV000481281 CA017712 RCV000464371 rs587782278 |
424 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1064795063 RCV002370014 RCV000759097 RCV001855915 CA346734301 |
425 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300622 rs1064795063 CA16617575 RCV001010687 RCV000482294 |
425 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346734314 rs879254234 RCV001010702 RCV000236876 CA10584213 RCV001061266 |
426 | G>R | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346724492 rs1553361147 RCV001059249 RCV000579694 |
427 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1421473851 CA346724494 RCV002528137 RCV000570734 |
428 | H>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000567670 CA027772 rs776034412 CA346724499 RCV000630232 |
428 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
rs1114167833 RCV000490874 RCV000810449 |
429 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001353690 CA017883 rs63751693 RCV000627701 RCV001823109 RCV000076112 RCV000214917 |
429 | Q>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985793 RCV001858629 CA346724501 rs63751693 |
429 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558493372 CA346724502 RCV000708831 |
429 | Q>P | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751626 RCV000076113 |
430 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751646 RCV000076114 RCV001260434 CA017899 |
430 | K>* | Hereditary nonpolyposis colon cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751315 CA017911 RCV002381383 RCV000076116 |
431 | L>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553361162 RCV001227883 RCV000608554 |
432 | L>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268314 rs937218360 RCV000821073 CA346724524 RCV001010808 |
432 | L>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002511023 RCV001049105 RCV002379538 rs1573519281 |
433 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000232170 rs768070717 RCV000573477 RCV000589179 CA027829 |
434 | 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 |
|
RCV002515489 rs863225389 RCV000202110 |
435 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658240 RCV001251400 RCV002379955 |
435 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658240 RCV001049086 RCV000216114 CA10577970 RCV001293523 |
435 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346724556 rs876658240 RCV000583308 RCV001359134 |
435 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000986667 CA346724569 rs1573519324 RCV000801171 |
436 | F>S | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502035 RCV000462783 |
437 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027847 rs773956144 CA46660022 RCV000573564 |
437 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV000802508 RCV001010886 rs773956144 CA346724577 |
437 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346724596 RCV000662883 rs1553361185 |
438 | T>I | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246307 rs1675067825 |
438 | T>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573519371 RCV001010935 |
439 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617576 RCV001030709 rs786203116 RCV001010926 RCV000487340 RCV001851231 |
439 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771789692 RCV000780452 COSM1684713 CA027887 RCV000571303 RCV001067617 |
439 | P>L | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA017943 rs786203116 RCV000197715 RCV000166280 RCV000985794 |
439 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000528474 rs587779082 RCV000491828 RCV000411959 RCV000850309 |
439 | P>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Rectal neoplasm Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779083 RCV002381384 RCV000803793 RCV000076120 |
440 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796236 rs1553361201 CA346724612 RCV000565259 |
440 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002514349 RCV000076121 rs587779084 RCV000491100 CA017968 |
440 | L>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_043766 | 440 | L>del | LYNCH1 [UniProt] | Yes | UniProt |
|
RCV000491560 rs63750807 RCV001854314 RCV000076125 |
441 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675069387 RCV002379764 RCV001202756 |
441 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357630 RCV002384440 CA346724616 rs587779086 RCV001327210 |
441 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001187455 RCV001862953 rs1553361210 |
441 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524340 CA018000 RCV000446874 RCV001143792 rs587779086 RCV000478413 RCV001001300 |
441 | T>P | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000572373 rs1553361210 CA346724620 RCV000800873 |
441 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001859134 RCV001188997 rs587779086 |
441 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563080 CA346724633 rs1204241808 |
442 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16610794 rs876659906 RCV000986668 RCV000471535 RCV000567703 |
443 | L>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524724 rs1553361220 CA346724642 |
443 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577971 rs876659906 RCV000213439 RCV000226015 RCV001355808 |
443 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002561854 rs1675070099 RCV001214776 |
444 | R>C | Inborn genetic diseases Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507809 CA346724650 RCV000541857 rs557339938 RCV000986669 RCV000572189 |
444 | R>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000196756 RCV000586261 RCV000214843 RCV000409612 CA027957 rs557339938 |
444 | R>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs557339938 RCV001185572 |
444 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001785667 CA346724657 rs1553361224 RCV000793990 RCV000580972 |
445 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002384357 rs752067883 RCV001301019 |
445 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806961 rs752067883 CA46660085 RCV000582332 |
445 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001205007 rs752067883 |
445 | S>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177804 rs1484032641 |
446 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675070779 RCV001042010 |
446 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629684 rs1553361231 |
447 | F>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607696 RCV000076127 |
447 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129188 RCV000699387 rs587781373 CA018018 RCV001355950 |
447 | F>L | Hereditary cancer-predisposing syndrome Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63751217 CA018005 RCV002381385 RCV001040127 |
447 | F>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018031 RCV002288650 RCV001857464 RCV002284365 RCV002281961 RCV000131712 rs587782524 |
448 | S>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000803011 RCV000222198 rs876658918 |
449 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076129 rs267607955 |
449 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001383406 CA018043 RCV000076128 RCV002381386 rs63749920 |
449 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524342 RCV000781551 RCV000210120 RCV000129078 rs587781331 CA018049 RCV000482497 RCV000662718 |
449 | K>N | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000235527 rs879254064 CA10584214 RCV001175538 RCV001857810 RCV001010977 |
449 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491723 rs63750957 RCV000076131 |
451 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002526912 RCV000566928 rs1553361261 |
451 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018061 RCV000162487 RCV000202208 RCV000629700 rs786201066 |
451 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001818569 RCV002378971 rs878853801 CA10582012 RCV000231713 |
451 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491336 rs1114167850 |
452 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791561 RCV000076132 CA018073 RCV000573345 rs267607954 |
452 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002476086 CA46660139 RCV000556329 RCV000567928 rs267607954 |
452 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553361274 CA346724736 RCV000573445 |
452 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018085 RCV000076134 rs63750697 |
453 | M>K | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346724742 rs1558493602 RCV000758649 |
453 | M>L | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054972 CA346724747 rs63750697 RCV001180996 |
453 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001220102 rs1060502025 RCV000589611 CA346724761 RCV002384283 |
454 | I>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060502025 RCV000491177 CA16610869 RCV000467391 RCV001764410 |
454 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000761179 RCV000460057 RCV002267870 rs587781627 RCV000129729 RCV000588274 CA018091 |
454 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1675074360 RCV001312569 |
455 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA028103 RCV002465751 RCV000679287 RCV001861868 rs758636279 |
456 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA028117 RCV000562767 RCV000532242 rs777963115 |
456 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553361289 RCV002385976 RCV000629925 |
457 | T>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583346 RCV001860087 rs1445965781 CA346724787 |
457 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1675074892 RCV001067782 |
457 | T>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018102 RCV000076136 RCV000160582 RCV002381387 rs63750521 |
458 | L>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001011242 RCV001860660 CA346724795 rs1573519744 |
458 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553361295 RCV001327348 CA346724806 RCV000568572 |
459 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553361295 RCV001231172 |
459 | D>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757534022 RCV001223400 CA028148 RCV000574584 CA346724829 |
460 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000685208 RCV000567509 rs1553361303 CA346724826 RCV000759100 |
460 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs575905950 RCV000573569 RCV000985795 RCV000225970 CA028135 RCV003150132 |
460 | M>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000662679 RCV000198641 rs730881756 RCV000160583 RCV000492025 CA018117 RCV002265636 |
461 | D>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001876021 rs1114167881 RCV001181239 |
461 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629847 CA018123 rs730881756 RCV000160584 |
461 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000492035 CA10576596 RCV000220084 RCV000630030 rs876657701 RCV001264489 |
462 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs876657701 RCV001219639 RCV001664761 RCV002379829 |
462 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130410 RCV000817428 CA018158 rs587781997 |
462 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478449 RCV001210873 CA16617578 rs1064793825 RCV000572368 |
463 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076151 rs587779088 |
464 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577974 RCV000215886 RCV002519663 RCV002229540 rs876658223 |
464 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491759 rs863225390 RCV001383786 RCV000202241 |
465 | N>missing | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011319 CA346726690 rs1573547634 |
465 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798872 CA346726685 rs1487094949 RCV000570076 RCV000557128 |
465 | N>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000696112 rs1558508067 |
466 | H>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs544265737 CA028501 RCV000561959 RCV000463668 RCV001753886 |
466 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001589141 CA10577975 RCV000217983 rs876658457 RCV000537839 |
466 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553365711 RCV000588665 RCV000558184 |
467 | E>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001355815 RCV000076152 CA018225 RCV001011383 rs587779089 |
467 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553365711 RCV001862778 RCV001011339 |
468 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853802 RCV001383374 RCV000232666 |
468 | F>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1666725141 RCV001235976 |
468 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630143 CA346726738 rs1255961940 |
468 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230367 rs1060502027 |
469 | L>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750384 RCV000491004 RCV000076153 RCV000796731 |
469 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001755785 RCV000575666 CA028542 rs780702096 RCV000550095 |
469 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267607959 CA018235 VAR_054515 |
470 | V>E | LYNCH1; has no effect on ex vivo splicing assay [UniProt] | Yes |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
|
CA346726752 RCV000580051 RCV000557805 rs1391167729 |
470 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1391167729 RCV001182829 |
470 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630031 rs1553365719 RCV002395657 |
471 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166506 RCV000629905 rs745874745 CA018242 RCV001355772 |
471 | K>N | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1573547722 RCV000812553 CA346726774 |
471 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346726782 RCV000692689 rs1558508137 |
472 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346726786 RCV000534007 rs1553365723 |
472 | P>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573547745 RCV001860667 RCV001011459 |
473 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076155 CA018248 rs63751403 RCV002390224 |
473 | S>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs63751403 RCV000627720 RCV000482094 CA018254 RCV000218562 RCV000148630 |
473 | S>L | Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1666726837 RCV001188991 |
474 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180123 CA346726830 rs1318535736 |
475 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000550882 rs1349765126 CA346726826 |
475 | D>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346726828 rs1349765126 RCV000574211 RCV001358065 RCV000679290 |
475 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587781346 RCV000818661 CA346726844 |
477 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781346 CA018266 RCV000129124 RCV000210186 RCV000688403 |
477 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000774124 rs1558508152 CA346726850 |
477 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856065 rs587781346 CA346726846 RCV000773706 |
477 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000698504 COSM136252 CA16617579 RCV000572164 rs1051194508 RCV000485109 |
478 | L>F | Hereditary cancer-predisposing syndrome skin Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000572728 rs770550720 CA028632 RCV000229203 |
479 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779091 RCV000076159 |
480 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558508167 CA346726890 RCV000692064 RCV001011576 |
480 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393316 rs1666728055 RCV001065474 |
481 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203036 RCV001850337 RCV000166169 RCV001386660 CA018288 RCV000168254 CA018278 |
481 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346726897 RCV000795707 rs1573547857 |
481 | L>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750068 RCV000076162 RCV000491299 RCV000076161 RCV001353778 RCV001854315 |
482 | R>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750930 RCV001175539 |
482 | R>missing | Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076163 rs267607961 |
482 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076160 CA018301 rs587779092 |
482 | R>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346726909 RCV002560088 RCV001190620 rs587779092 |
482 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000571070 rs1553365751 CA346726920 |
482 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575075 RCV001302760 rs1553365747 CA346726916 |
482 | R>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076165 RCV001269958 rs63750161 |
483 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1021245 RCV002390225 RCV001269568 CA018326 RCV000076164 rs63749947 RCV001064013 |
483 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10577976 RCV002519706 rs876659702 RCV000222627 |
485 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775377647 CA346726962 RCV002391091 RCV001035390 |
485 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043758 RCV000573636 rs1553365763 CA346726967 RCV002497215 |
485 | M>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001371084 rs775377647 CA028690 RCV000566573 |
485 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000677889 RCV000076166 rs1114167806 RCV001201896 RCV000677888 RCV000166117 RCV000236889 RCV000001842 |
486 | N>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750986 RCV000076167 |
486 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472536680 RCV001323722 |
486 | N>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411837 RCV001798266 rs35107951 RCV000524343 RCV001797621 RCV000131869 VAR_068708 RCV000076170 CA018356 RCV000590052 |
487 | D>E | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome decreased mismatch repair activity; shows significantly decreased repair efficiency when associated with variant D-322 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000491127 rs1114167806 |
487 | D>E* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000506979 rs876658834 RCV000220873 |
488 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129044 RCV000199801 RCV000662760 rs587781314 CA018364 RCV000656877 |
488 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876658187 RCV000487159 RCV002525793 RCV002395148 CA16617580 |
489 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000529047 rs1553365781 CA346727032 |
489 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658187 RCV000222532 RCV000473755 RCV000663243 CA10577978 RCV000236848 |
489 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002393116 CA16610872 rs1060502008 RCV002230362 |
490 | K>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001250021 RCV001525504 rs1666730991 |
491 | K>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001359758 RCV000480852 rs1064795039 RCV000775781 CA16617581 |
491 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060502029 RCV002525565 |
492 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553365792 CA346727075 COSM1668896 RCV003159731 RCV000553969 |
492 | M>I | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA018378 RCV000076172 rs63750583 |
492 | M>I* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA028758 RCV003165662 RCV000236460 RCV001047851 rs774419666 |
492 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1357803103 RCV000541363 CA346727070 |
492 | M>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_043767 | 492 | M>V | LYNCH1 [UniProt] | Yes | UniProt |
|
RCV002395282 RCV000539331 rs1553365799 |
493 | Q>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076173 rs63750936 CA018386 RCV001356325 RCV000129104 RCV000759818 RCV000630148 |
493 | Q>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458047 CA028775 rs376990143 RCV000573378 |
493 | Q>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs376990143 RCV001188763 |
493 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA248506 rs370970617 RCV000202035 RCV000694104 |
494 | S>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA028810 RCV000475338 RCV002485427 RCV001589154 rs55653533 RCV000219106 |
494 | S>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000160587 rs730881757 RCV000821313 RCV000573867 CA018401 |
495 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167935 rs756516114 RCV000486548 RCV000164768 CA018409 |
495 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573548065 RCV001011819 RCV001862782 |
496 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM26117 RCV000076174 CA018422 rs587779093 |
496 | L>* | large_intestine Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000458190 CA16610877 RCV000570881 rs587779093 |
496 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001420762 RCV001192063 rs1666732788 RCV003127677 |
497 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346727133 rs1558508340 RCV001055353 RCV000773058 |
497 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630079 RCV000219613 RCV002229222 rs755501968 RCV000483517 RCV000986672 CA028875 |
497 | I>V | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000685024 rs1558508343 |
498 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804781 CA346727144 RCV000568379 rs1553365810 |
498 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750362 RCV000076176 |
499 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467804 RCV001525046 CA16610812 rs1060502010 |
499 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1186764263 RCV001011786 CA346727157 RCV001860682 |
499 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63749963 RCV000076177 |
500 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1666733944 RCV001297771 RCV002393703 |
500 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076179 RCV003128141 RCV001270944 rs587779094 |
501 | R>missing | Breast and/or ovarian cancer Endometrial carcinoma Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1666734097 RCV001862439 RCV001030710 |
501 | R>G | Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003169591 CA028941 rs376677710 RCV001338269 |
501 | R>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000222010 RCV001527007 CA018475 RCV000115502 rs148192104 RCV000475133 |
502 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148192104 RCV001188472 RCV000791542 CA346727194 |
502 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002530241 CA346727204 rs1553365825 RCV000565088 |
503 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346727206 RCV001176197 RCV001322089 rs587779095 |
503 | L>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA018480 rs587779095 RCV000580795 |
503 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000807940 CA346727202 rs1553365825 RCV000771427 |
503 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002390226 RCV000076181 rs63751600 CA018487 RCV002243697 RCV001062335 |
504 | G>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001190454 RCV000690843 CA346727704 RCV001771950 rs1191742655 |
504 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000686725 CA346727719 rs1553366508 RCV000572647 |
506 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573553079 CA346727716 RCV001011881 |
506 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018526 rs63750492 VAR_012941 |
506 | D>Y | LYNCH1 and CRC; sporadic early-onset CRC; decreased mismatch repair activity [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002395283 rs1553366510 RCV000559986 RCV000604643 |
507 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553366511 RCV001309901 CA346727720 RCV000581613 |
507 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165658 RCV001560128 rs786202710 CA018540 RCV000688876 |
508 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002228182 RCV002390227 CA018553 rs587779097 RCV000076189 |
510 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782355 RCV000823121 CA018560 COSM1483118 RCV000160591 RCV000131303 RCV001137232 RCV000235175 CA018566 RCV000548522 |
510 | Q>H | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome breast Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001189636 rs1666893567 |
511 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570606 RCV001297040 rs1553366529 CA346727748 |
511 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346727747 rs1573553170 RCV000813434 |
511 | I>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000501065 rs1553366522 |
512 | K>missing | Carcinoma of colon [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167853 RCV000491988 |
512 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346727751 RCV001012066 rs1573553178 |
512 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002399754 RCV000202016 rs863225391 |
513 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346727758 RCV001321768 rs1553366533 RCV000573031 |
513 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039218 CA346727774 rs1348895710 |
515 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001250029 rs1666894595 |
516 | S>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571174 CA10582015 rs878853803 RCV000233117 |
516 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001553592 RCV000485690 RCV000409878 rs373564353 RCV000524347 RCV001012071 CA018578 |
516 | S>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000198682 RCV001201365 CA338107 RCV000986673 rs373564353 RCV000774569 |
516 | S>N | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000581643 rs1553366545 CA346727781 RCV001300301 |
517 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402258 rs1060501997 CA16611031 RCV002230358 |
517 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235817 RCV000076193 RCV001187673 rs63749930 RCV000707356 RCV001353393 |
518 | Q>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750780 RCV000076192 CA018597 RCV001187045 RCV000657577 RCV000701635 |
518 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763323368 CA346727787 RCV000581095 |
518 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000503989 rs1553366554 RCV002404307 |
519 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1225503418 RCV001337703 |
519 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067287 rs1371291280 CA346727792 |
519 | F>L | LYNCH1; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA346727798 RCV001862784 rs1573553312 RCV001012104 |
519 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1666896237 RCV001202545 |
520 | G>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553366561 RCV000500942 |
521 | Y>missing | Carcinoma of colon [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205506 RCV000574279 CA349667 rs63750330 |
521 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs879254040 RCV000800549 RCV002397611 CA346727809 |
521 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001012192 rs1553366562 CA346727805 RCV002551757 |
521 | Y>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566599 CA10584215 rs879254040 RCV000235347 |
521 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000562344 RCV001865732 rs1553366562 CA346727807 RCV003126824 |
521 | Y>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485928 RCV000629780 RCV000575960 rs1064793561 |
522 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001823110 RCV001384313 RCV002399452 RCV000657690 RCV001357508 CA018620 rs63750224 CA346727817 RCV000076195 RCV001388417 |
522 | Y>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Endometrial carcinoma Lynch syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549358 CA346727814 rs1573553370 RCV001012143 |
522 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346727812 rs1553366567 RCV000539943 |
522 | Y>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018632 rs587782587 RCV000131926 |
523 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567263 rs1064795653 RCV000481233 |
524 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569307 CA029597 rs755818010 RCV001250041 RCV000759820 RCV000484414 RCV000552575 |
524 | R>C | Variant assessed as Somatic; 0.0 impact. Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002243830 rs63751207 RCV000218047 CA018637 RCV000160592 RCV000228006 RCV000708832 |
524 | R>H | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000813236 CA018649 RCV000165745 rs63751207 |
524 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001251063 RCV000165648 rs63751207 CA018643 RCV000531855 RCV000076197 RCV000001829 VAR_004479 RCV000256140 |
524 | R>P | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA346727826 RCV000564783 rs1396878326 |
525 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000076199 rs63750094 RCV002399453 RCV001230571 RCV000479550 RCV000491634 |
526 | T>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346727837 rs1204369578 RCV000706072 RCV001012243 |
526 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1204369578 RCV000565154 CA346727835 |
526 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63750738 RCV000076200 RCV000492027 |
527 | C>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553366583 RCV000571030 |
527 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1249471315 RCV001250036 |
527 | C>* | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630195 CA346727843 rs1553366585 RCV002257869 |
527 | C>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs755799226 RCV001012283 CA029643 RCV002549364 |
528 | K>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000662996 RCV000115503 RCV000463961 CA018669 RCV001354840 RCV000491225 rs199744440 |
528 | K>Q | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001220682 CA46685049 RCV001012282 rs755799226 |
528 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1114167820 RCV000491398 |
529 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269967 rs63750845 RCV000076201 |
530 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042504 rs1666901220 RCV002400248 |
530 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071458 rs1666901220 |
530 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000590460 RCV001420714 RCV000581134 CA346727874 RCV000801092 rs1553366599 |
531 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250020 rs1666899452 |
531 | K>V* | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759821 rs1558511051 RCV001381782 RCV002397529 |
532 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750104 RCV000076203 |
532 | V>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986674 CA029661 RCV000572859 rs754778750 RCV000791418 RCV000477609 |
532 | V>A | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754778750 RCV001040950 |
532 | V>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175733 RCV000793817 rs786202987 CA346727886 |
533 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000761063 RCV000166086 CA018694 rs786202987 RCV000689634 |
533 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000076204 RCV001175346 RCV000491263 RCV000524349 RCV000588411 RCV000410514 rs63750029 CA018706 |
534 | R>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000122981 RCV000656878 RCV000121559 RCV000662395 RCV000492001 CA018712 rs587778523 |
534 | R>H | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001039308 CA029754 rs587778523 RCV000567489 RCV003153734 RCV000662462 |
534 | R>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857449 VAR_079824 rs587778523 RCV000130374 CA018721 |
534 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms no effect on protein levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001066309 rs1666902628 |
535 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779098 RCV000470390 CA16610879 |
535 | N>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532887 CA346727906 RCV000781553 rs201722703 |
536 | N>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV000774570 rs201722703 CA46685175 RCV000697547 |
536 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs980244810 RCV001193244 RCV002393445 |
537 | K>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346727911 RCV001303120 rs747074044 RCV002464313 RCV000773244 |
537 | K>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553366615 RCV000573993 CA346727916 |
538 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346727920 rs1553366617 RCV000566656 |
538 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553366617 RCV001207441 |
538 | N>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558511106 RCV000773929 RCV002290018 CA346727924 |
539 | F>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067826 RCV000160593 RCV000774571 CA018746 rs730881759 |
539 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001384789 RCV001012435 rs1573553636 |
540 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553366622 CA346727933 RCV002534028 RCV000772611 |
540 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1268933712 RCV000573899 RCV001764640 RCV001296698 CA346727932 |
540 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346727934 rs1553366622 RCV000566684 RCV000795919 |
540 | S>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478447 RCV003150090 CA348608 rs864622079 RCV001193995 RCV000204365 RCV000570070 |
541 | T>I | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002400323 RCV001056336 rs141150847 |
541 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570016 CA346727945 rs1553366630 |
542 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076207 RCV002399454 rs63750675 |
543 | D>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564141 rs1553366639 CA346727955 RCV002298666 |
543 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777022 rs746286801 CA346727961 |
544 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000121560 RCV000569681 rs587778524 RCV001588967 CA018761 RCV000472209 |
544 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1666904987 RCV002393670 RCV001260342 |
545 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372350768 RCV000233579 CA10582016 RCV001305491 RCV001030711 |
546 | K>N | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000795889 CA346727974 rs1573553723 |
546 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076208 rs63750662 |
547 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553366642 RCV000616850 |
547 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411811 RCV001800374 RCV000697749 CA018784 RCV001191249 RCV000506572 rs267607967 |
547 | N>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1666905944 RCV001216370 |
548 | G>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750538 CA018790 RCV000490983 RCV000479671 RCV000524350 |
548 | G>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573553753 RCV000809837 RCV001012510 CA346727986 |
548 | G>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659905 CA346727990 RCV000529133 |
549 | V>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000218213 RCV000629673 rs876659905 CA10577979 |
549 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000490821 RCV001065122 rs1114167835 |
550 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773331 rs1558511191 CA346727996 |
550 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702849 CA346727995 rs1558511191 |
550 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728000 rs1553366663 RCV000582130 |
550 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660635 RCV000706886 RCV000221165 CA10577980 |
551 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192211 rs1666906629 |
551 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167849 CA346728005 RCV000491850 |
551 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402257 RCV000472080 CA16610799 rs63750838 |
552 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400229 rs1666906992 RCV001038420 |
552 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750838 CA018802 RCV002514351 RCV000213657 VAR_043768 |
552 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1666906992 RCV001182912 RCV001876080 |
552 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167817 RCV000491998 RCV000503051 |
553 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728013 rs772772789 RCV001193847 RCV000546300 |
553 | N>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800071 RCV002388471 CA346728019 rs869312796 |
553 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs772772789 RCV003156243 RCV000477039 RCV000774572 CA029966 |
553 | N>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000076215 rs63751656 CA018820 |
554 | S>C | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018814 rs63751656 RCV000076214 RCV000985797 RCV000491028 |
554 | S>G | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750597 RCV000570315 CA030195 RCV002497211 RCV000802215 RCV001310202 |
554 | S>N | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002397878 rs63751656 RCV001898807 VAR_012942 CA018807 |
554 | S>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000689839 CA346728032 rs587778525 |
554 | S>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63750597 RCV000491785 RCV000076221 RCV001357409 CA018877 |
554 | S>T | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002399457 rs63751120 RCV000076233 |
555 | K>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607694 RCV000076236 |
555 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728033 RCV000566870 RCV001858297 rs1553367573 |
555 | K>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230798 rs267607694 |
556 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225114 rs587779101 RCV002402705 |
556 | L>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484239 RCV002402390 rs1064794071 |
556 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800072 CA346728045 rs1573560244 |
556 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018940 rs587779101 RCV001012630 RCV001210305 |
556 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728044 RCV000490580 RCV002404286 RCV001856915 rs587779101 |
556 | L>W | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076235 rs1553367587 |
557 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794847 RCV001012633 CA346728047 rs63750432 |
557 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002529099 CA346728050 RCV000580734 rs139920308 |
557 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs63750432 RCV001349304 RCV002404828 |
557 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034658 CA018965 RCV001012659 RCV000168437 rs139920308 |
557 | T>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1573560283 RCV001012670 |
558 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558514487 RCV000705121 |
558 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750633 RCV000076240 RCV002399459 RCV003128142 RCV003162493 |
558 | S>* | Uterine corpus cancer Hereditary cancer-predisposing syndrome Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553367602 RCV000580419 CA346728056 RCV002529100 |
558 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579810 CA346728054 rs1553367602 |
558 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759823 CA346728061 RCV000777627 rs1558514500 |
559 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063284 RCV002411582 rs1667073440 |
559 | L>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685519 rs1429353441 RCV000567917 CA346728069 |
560 | N>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs63750328 COSM1021249 CA346728073 RCV000571761 |
561 | E>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000484663 CA018988 rs63750328 RCV000524354 RCV000410128 RCV001198848 RCV000568086 |
561 | E>K | Turcot syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573560326 RCV001012696 |
561 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750406 RCV000076243 |
562 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491179 RCV003159593 CA346728082 rs1114167816 |
562 | E>* | Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786203850 RCV000167337 CA019004 RCV000482582 RCV000464235 |
562 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491639 CA346728081 RCV001317601 rs1114167816 |
562 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000774573 VAR_004480 CA018999 rs63750997 RCV000686405 |
562 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000490897 RCV000689274 rs587779103 RCV000076245 |
563 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062181 rs63751054 RCV002479368 RCV001183388 |
563 | Y>C | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563095 rs1553367622 CA346728086 RCV001858304 |
563 | Y>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs55778204 RCV000659881 RCV001081232 RCV000445069 CA019018 RCV001355421 RCV000564309 RCV000076247 RCV002504985 VAR_043769 RCV000589504 |
564 | T>A | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553367632 RCV000572556 RCV001236379 CA346728095 |
564 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553367632 RCV000630175 RCV001012766 CA346728096 |
564 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553367635 RCV000505645 |
565 | K>* | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779104 RCV000076248 CA019034 |
565 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076249 rs63750737 |
565 | K>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667075835 RCV001227296 RCV002402710 |
565 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750737 RCV000129525 RCV001235798 |
566 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573844 rs1553367640 |
566 | N>IL | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490820 RCV000483742 rs63750474 RCV000076252 RCV002228183 |
567 | K>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207334 rs1667076297 |
567 | K>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314346 rs587779105 |
567 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751149 RCV001854316 RCV000076250 CA019047 |
567 | K>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751149 RCV003153619 CA030545 |
567 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779105 RCV001053224 RCV002408593 RCV000076253 |
568 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667076382 RCV001212655 |
568 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567214 rs1285862035 CA346728122 |
568 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728123 RCV000569949 RCV001359194 rs1285862035 |
568 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1667076589 RCV001051068 |
569 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491995 RCV000115505 rs63750393 RCV000627733 RCV000409229 RCV000030243 |
569 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779106 RCV000076255 |
569 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761166 RCV000663034 RCV000585899 RCV000162561 rs786201077 RCV000168102 CA019085 |
569 | E>G | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000076254 rs63750393 |
570 | Y>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131692279 RCV000496026 |
570 | Y>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019092 RCV000115506 rs587779963 RCV000555354 RCV000574691 |
570 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346728132 RCV000563362 rs1553367656 |
570 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779963 RCV001300181 |
570 | Y>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667077799 RCV001177224 RCV001233461 |
571 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305965 rs1667077650 |
571 | E>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA030606 rs776263190 RCV001191250 RCV001859148 |
572 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000688354 RCV002275105 rs1558514635 CA891842724 RCV003163121 RCV000780439 |
572 | E>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667077735 RCV001313949 |
572 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607974 RCV000076256 |
573 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205500 RCV000034551 rs200766962 RCV000771217 CA019102 |
573 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573560525 CA346728157 RCV001012862 |
573 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751299 RCV003128143 RCV000076258 |
574 | Q>missing | Uterine corpus cancer Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399460 CA019108 rs63751298 RCV000076257 |
574 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667078764 RCV001051546 RCV002400295 |
574 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402680 RCV001221997 rs1667078647 |
574 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667078647 RCV001215852 |
574 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708833 RCV000115507 RCV001193892 RCV000679295 CA019119 RCV000198150 rs370330868 |
575 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298835 rs587779107 CA019125 RCV000076259 |
576 | A>P | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1573560572 RCV001012870 |
577 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040005 rs774985655 |
577 | I>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076260 CA019130 RCV000212607 RCV000034552 RCV000524356 RCV001798064 rs63749910 RCV000415673 RCV000115508 |
577 | I>T | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA030657 RCV000630236 RCV000581019 RCV000484349 rs774985655 |
577 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1667082140 RCV001306188 |
578 | V>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001875894 CA346728189 RCV001178385 rs1573560604 |
579 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057524910 RCV002402221 RCV000445447 |
580 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076261 RCV000785573 RCV000552781 COSM276127 RCV001249917 rs63751411 RCV000483706 CA019142 RCV000491635 |
580 | E>* | Lynch-like syndrome large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Neoplasm of ovary Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs63750141 RCV001290618 RCV002402812 |
581 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211932 CA030715 rs761859271 RCV001806049 |
581 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000230549 RCV001800541 RCV000220254 rs201118107 RCV000663329 RCV001818514 CA10577984 RCV001358260 |
583 | N>I | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000765667 RCV001354468 VAR_043770 rs201118107 RCV000076263 RCV000115510 RCV000148636 RCV001079601 RCV002265576 CA019161 RCV000034553 |
583 | N>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001299427 RCV002399461 rs201118107 CA019156 |
583 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808823 CA346728223 rs1573560689 RCV002397658 |
584 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1236208777 CA346728221 RCV000698722 |
584 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001052647 rs63751433 RCV002400304 |
585 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728230 rs1280971849 RCV001292968 RCV000699372 RCV002406613 |
585 | S>F | Hereditary cancer-predisposing syndrome Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491644 RCV000657671 CA346728237 rs1114167854 |
586 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181188 rs1114167854 |
586 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491233 rs63751140 CA346728239 COSM1408262 |
587 | G>C | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000700587 CA019199 RCV000076270 RCV002408594 rs63751140 COSM26099 |
587 | G>R | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs63751140 RCV000823865 RCV000568488 CA346728238 |
587 | G>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1436608214 CA346728251 RCV000697636 |
587 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1667229261 RCV001310201 |
588 | Y>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019239 rs63750844 RCV002399462 RCV000076279 RCV001250030 |
588 | Y>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346728256 RCV001176328 RCV000791934 rs1236199597 |
588 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16617588 RCV000551068 RCV000479480 rs1064793981 RCV000581059 RCV000766532 |
589 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1573566217 RCV000821422 RCV001190992 |
590 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA031214 RCV000696814 rs760619442 RCV000562329 |
590 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267607977 RCV000076280 RCV000524359 RCV001013055 |
591 | P>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019258 RCV000132041 rs587782643 RCV002466445 RCV000204826 |
591 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001572545 CA346728271 RCV000561432 rs951988481 RCV000534975 |
591 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001339067 rs1667230405 |
592 | M>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212609 RCV000656879 rs371614039 RCV000662460 RCV000160595 RCV000524360 RCV001357833 CA019271 |
592 | M>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000076283 rs63750113 |
593 | Q>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399463 CA019278 RCV000540595 RCV000076282 rs63750200 RCV001249920 RCV001269629 |
593 | Q>* | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611035 RCV000467112 rs63750200 RCV001013110 |
593 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858306 rs1553368505 CA346728287 RCV000563071 |
593 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728286 RCV000694303 RCV001193996 rs1558517711 |
593 | Q>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809250 CA346728285 rs1558517711 |
593 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343087 CA031253 rs753897195 |
594 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346728292 RCV000573132 rs1553368510 RCV000525389 RCV001139481 |
594 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553368510 RCV000824277 CA346728293 |
594 | T>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076284 rs267607691 |
595 | L>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214939 rs876658940 |
595 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542666 RCV002404371 CA346728296 rs1553368514 |
595 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052629 rs786201590 |
595 | L>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019291 RCV000163932 RCV001267891 rs786201590 RCV000554840 |
595 | L>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569653 CA346728295 RCV001070187 rs1553368514 |
595 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553368518 RCV000570383 |
596 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779111 RCV000076287 RCV000491048 RCV003137612 |
596 | N>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076288 rs63750495 |
596 | N>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064794906 CA16617589 RCV001205685 RCV001013177 RCV000484616 |
596 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076285 RCV000128908 RCV001353543 RCV000202293 rs63749831 RCV000001827 RCV000524362 VAR_004481 |
596 | N>missing | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome LYNCH1; decreased mismatch repair activity; has no effect on MSH2 splicing Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000200985 RCV000034554 rs41295288 VAR_012943 RCV003149607 CA019304 RCV000076286 RCV000148641 RCV000659882 RCV001081309 RCV000115511 RCV000765668 |
596 | N>S | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_004481 rs63749831 |
596 | N>del | LYNCH1; decreased mismatch repair activity; has no effect on MSH2 splicing [UniProt] | Yes |
UniProt dbSNP |
|
rs548407418 RCV000781560 RCV000167995 RCV000480972 RCV000708834 CA019316 RCV000409730 RCV000162476 |
597 | D>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000574789 RCV001858107 rs548407418 CA346728306 |
597 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000205573 rs765442101 RCV001526104 CA031310 |
597 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000543619 rs548407418 CA346728307 RCV001524422 |
597 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs786202790 RCV000165778 |
598 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573566411 RCV001013187 |
598 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473024 rs1060502039 |
598 | V>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571683 rs1553368540 |
598 | V>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570637 CA031369 RCV000588090 rs778152746 RCV000556013 |
598 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA031393 RCV000219087 RCV000530644 RCV000210095 RCV000520524 rs747504492 RCV000662912 |
599 | L>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63751236 CA10577987 RCV000215374 RCV001224241 |
600 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587778526 CA346728320 RCV000800556 |
600 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000121563 RCV001804848 rs587778526 CA019328 RCV000543103 |
600 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA031405 RCV000807109 rs587778526 |
600 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63751236 CA019334 RCV000811456 RCV002399464 VAR_043771 |
600 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1573566488 RCV000986679 RCV000812822 |
601 | Q>missing | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000428558 CA019344 RCV000001828 RCV000076290 RCV000809096 RCV000491732 rs63750047 |
601 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728327 RCV000735960 rs1553368556 RCV000574655 CA346728326 RCV000796750 RCV000584510 |
601 | Q>H | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002469065 RCV000567614 RCV000765669 RCV000205243 CA031443 rs779447213 |
601 | Q>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786203704 RCV001385381 RCV000167124 |
602 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553368561 RCV000501733 RCV000699463 RCV001328324 RCV000580224 CA346728330 |
602 | L>P | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205416 rs748797209 RCV001356036 RCV000235312 RCV000221565 CA031475 RCV000663070 |
602 | L>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751129 RCV000076293 |
603 | D>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607985 CA346728332 RCV002408984 RCV000821748 |
603 | D>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854317 CA019354 rs267607985 RCV002408595 RCV000076292 |
603 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750657 CA16617590 RCV000485623 RCV002280119 RCV001187838 |
603 | D>H | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_043772 CA019349 rs63750657 RCV001253791 RCV000774575 RCV001358217 RCV000076291 COSM133152 |
603 | D>N | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer breast Lynch syndrome LYNCH1; decreased mismatch repair activity; affects protein stability; loss of protein expression [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA346728333 rs267607985 RCV001349666 RCV000562065 |
603 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491905 rs1114167876 |
604 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629723 RCV001731820 rs1553368568 CA346728336 RCV001013211 |
604 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1064794881 CA16617591 RCV000580848 RCV000482213 RCV001225204 |
605 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000199035 RCV000566201 RCV000235488 rs730881777 CA031537 RCV000412070 |
605 | V>F | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000160636 CA019367 RCV000212610 RCV000462601 rs730881777 RCV000986680 RCV000708835 |
605 | V>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342995 RCV000774576 CA031525 rs730881777 RCV000228247 |
605 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376044376 CA348303 RCV000663175 RCV000204031 RCV001013294 |
606 | V>A | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129574 RCV000473039 rs376044376 RCV003137636 CA019381 |
606 | V>D | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs267607978 RCV000491246 |
606 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230811 rs1553368576 RCV000582422 |
607 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313984 rs772991620 |
607 | S>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535673 RCV000780460 rs772991620 RCV002406710 CA031564 |
607 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750665 RCV001051464 RCV000775112 CA346728366 |
609 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046260 RCV000503826 CA346728364 rs150980616 |
609 | A>P | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001550360 RCV000477055 rs150980616 CA031583 RCV000765670 RCV000223424 |
609 | A>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA019393 rs63750665 RCV002045182 RCV002407274 |
609 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491249 RCV000076297 RCV000531842 rs587779112 |
610 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607980 RCV001192074 |
610 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000428720 CA019403 RCV000663086 rs267607980 VAR_054516 RCV001526105 RCV000707667 |
610 | H>N | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1; has no effect on MSH2 splicing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001851163 CA16617592 CA346728371 RCV002559130 RCV000479405 rs766326295 RCV001187513 RCV001186882 |
610 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019408 RCV000163537 RCV000794229 rs267607980 RCV000484226 RCV000657098 |
610 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664317 CA346728375 rs1553368590 |
611 | V>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221393 RCV000478694 RCV002413333 RCV001219407 CA16617593 RCV001178455 rs369385048 |
611 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ESP ExAC gnomAD |
|
RCV000575973 RCV000232146 RCV000481079 RCV000662772 CA031636 rs369385048 |
611 | V>M | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1114167879 RCV000490822 |
612 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357329 RCV000491040 RCV000629963 RCV000202183 RCV000076300 CA019418 rs63750493 |
612 | S>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167815 RCV000491996 RCV001380770 RCV000781568 |
613 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019422 rs200147804 RCV000034555 RCV000705544 RCV000771463 |
613 | N>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346728386 RCV000580820 rs1553368595 |
613 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235277 CA10584216 rs200147804 RCV002411071 |
613 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001188274 rs1380847972 RCV002560014 |
614 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234287 rs1298430398 RCV002411866 |
614 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167856 RCV000491306 |
615 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728403 RCV000565243 RCV002530310 rs1223047169 |
615 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1223047169 CA346728402 RCV001346152 RCV001013372 |
615 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000580277 RCV001063386 CA031700 rs765493709 |
615 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782627 RCV001054948 |
616 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411841 CA019432 RCV000212611 RCV001194001 rs587779965 RCV000708836 RCV000205979 RCV000115512 RCV001355718 |
616 | P>R | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000629677 CA019428 RCV003129784 rs587782627 RCV001030712 RCV000132012 |
616 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782627 RCV001179251 RCV001875929 |
616 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728426 RCV000758650 rs1260310695 |
617 | V>A | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728421 rs1224364754 RCV000564234 RCV000629939 |
617 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001270945 RCV000076301 rs267607984 RCV002408596 RCV000481856 RCV001854318 |
618 | P>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573566787 RCV001013386 |
618 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013392 rs1573566801 CA346728433 |
618 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1486519909 CA346728438 RCV000579741 RCV000630172 |
618 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1573566801 RCV000809239 RCV002406815 CA346728431 |
618 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688460 RCV000076303 RCV002408598 rs63750312 CA019449 |
619 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749982 RCV002408597 VAR_043773 RCV000479241 CA019445 |
619 | Y>C | Hereditary cancer-predisposing syndrome CRC; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1573566819 RCV001013350 |
620 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076304 rs63750806 |
621 | R>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763492 CA019461 RCV000524364 RCV000414448 RCV001328039 RCV001249915 RCV000491286 rs63750508 RCV000602838 RCV000076305 COSM3839607 RCV001650893 |
621 | R>* | Breast carcinoma Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Variant assessed as Somatic; impact. Hereditary nonpolyposis colon cancer breast Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA031770 RCV001192651 RCV000561447 rs63750508 RCV000483159 RCV000465743 |
621 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201977 RCV000491320 rs759263820 CA210371 RCV000205853 RCV000656880 |
621 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000567575 CA346728461 rs759263820 RCV000806694 |
621 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA031795 RCV000758651 RCV000549787 rs759263820 RCV000575117 RCV000663143 RCV001764525 |
621 | R>Q | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019474 RCV000166557 RCV001311925 rs63750280 RCV001379610 |
622 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_004482 CA019478 RCV000001823 RCV000566777 rs28929483 RCV000630204 RCV002460877 RCV000076307 |
622 | P>L | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; confers multiple biochemical defects [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs28929483 RCV000780453 CA346728465 RCV002413352 |
622 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000256112 RCV000629692 CA10588344 rs28929483 RCV000506471 RCV000491622 |
622 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036384 CA019468 RCV000255200 rs63750280 RCV000491749 |
622 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490960 CA346728472 rs1114167846 |
623 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347002 rs1114167846 RCV003169693 |
623 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728476 rs781698416 RCV000534524 RCV002413439 |
623 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346728486 rs1114167870 RCV000492007 |
624 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728479 rs1553368626 RCV000527808 |
624 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313695 rs1667240403 RCV002412002 |
626 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728520 rs1558518146 RCV000691351 |
627 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482381 rs1064795127 RCV000564988 |
628 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001384984 RCV002413374 CA346728530 RCV000500134 rs371776176 |
628 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320397 RCV001764665 rs879254044 CA346728533 RCV000573176 |
628 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000236195 CA10584218 RCV001238758 RCV001178639 rs879254044 |
628 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728529 RCV001013515 rs371776176 RCV001342329 CA031882 RCV000629911 RCV001013514 |
628 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs879254044 RCV000478710 CA16617594 RCV003114607 |
628 | G>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071237 RCV000076313 rs63750203 CA019511 RCV001013537 |
629 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001355305 RCV000129036 RCV001079970 CA019515 RCV000587872 RCV002477218 RCV003149749 VAR_043774 rs61756468 RCV000076314 RCV000121562 RCV000490519 |
629 | Q>R | Carcinoma of colon Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs63750960 RCV001380771 RCV001180332 RCV000076315 |
630 | G>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491568 CA346728551 rs1114167866 |
630 | G>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000565063 CA346728549 rs1114167866 |
630 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220614 rs866809097 CA10577988 |
630 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1361816581 RCV001234161 CA346728565 |
631 | R>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000547904 RCV001572130 CA346728562 RCV002481753 rs1361816581 RCV000568306 |
631 | R>K | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA031953 rs747805096 RCV000220090 |
631 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000629955 RCV001013601 rs1301770111 CA346728571 |
632 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779114 RCV000076316 |
633 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771695599 RCV001220567 |
633 | I>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622093 RCV000206123 RCV000562458 CA350189 RCV000519579 RCV001201177 |
633 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000759104 RCV000662475 RCV001804892 CA019526 rs771695599 RCV000168408 RCV000163067 |
633 | I>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573567022 RCV001013547 |
634 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000502231 RCV000490923 CA346728596 rs1114167811 |
634 | L>* | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001353396 VAR_012944 RCV000030245 RCV000376757 RCV000202220 RCV000524366 CA019533 rs63750875 RCV000763493 RCV000130428 |
636 | A>P | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch binding activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000583770 RCV001588896 RCV000524367 CA019539 rs63750279 |
636 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816301 rs1064795992 RCV000482793 CA16617596 RCV001013660 |
637 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491809 RCV000201962 rs63750893 RCV000818764 RCV000076318 |
638 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_054517 CA019550 rs267607981 |
638 | R>G | LYNCH1; has no effect on MSH2 splicing [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA019566 CA46700426 RCV002410637 rs1800152 |
639 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA019562 rs587779116 RCV000582698 RCV000791733 VAR_043775 |
639 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA019553 RCV000491611 VAR_004483 rs28929484 RCV000001826 RCV001204094 RCV000030246 RCV000202104 |
639 | H>Y | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; the equivalent substitution in yeast does not affect mismatch repair efficiency in vitro [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001233929 rs1667244869 |
640 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA032044 rs531276135 RCV000689761 |
640 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000804667 CA346728657 rs531276135 |
640 | A>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001013704 rs1573567132 |
641 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779117 RCV000076323 |
641 | C>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346728670 RCV000805689 rs786204110 |
641 | C>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786204110 RCV000483193 RCV003150034 CA019575 RCV000168044 RCV000563020 |
641 | C>Y | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491851 rs1114167882 |
642 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776528054 RCV000475226 CA16611037 |
642 | V>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA032054 rs776528054 RCV001227138 RCV000217320 |
642 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001048831 RCV001284170 rs1667245819 |
643 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204646 rs374840361 CA019583 RCV002509245 RCV000765671 RCV000148637 RCV000589876 RCV000160596 |
643 | E>K | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001047951 rs1667245915 |
644 | V>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558518329 RCV000772422 |
644 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491415 rs1114167823 |
644 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607982 RCV000520348 RCV000491204 RCV001237307 CA346728706 |
645 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000573883 RCV000540956 VAR_054518 rs267607982 RCV000662923 RCV000115513 CA019587 |
645 | Q>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1; has no effect on MSH2 splicing [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000122983 rs587780684 CA019591 RCV000561862 |
645 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728708 RCV000810891 rs1573567208 |
645 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815527 rs1573567212 |
646 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA032095 rs41295290 RCV000483596 RCV000575069 RCV000228698 |
646 | D>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500640 RCV000567358 RCV000553478 rs41295290 CA46700482 RCV000506889 |
646 | D>G | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013772 RCV001211989 rs41295290 CA346728722 |
646 | D>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA346728717 RCV002406871 RCV000818110 rs1573567223 |
646 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46700508 rs63750078 COSM27627 RCV000822443 |
647 | E>* | large_intestine Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
| VAR_043776 | 647 | E>K | LYNCH1 [UniProt] | Yes | UniProt |
|
CA019596 RCV000165743 RCV000529191 rs63750078 |
647 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001381414 rs1553368675 RCV000570154 |
648 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000523371 CA032124 RCV000222363 RCV000629936 rs763100088 RCV001355204 |
648 | I>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA032140 RCV002412012 RCV001315795 rs763100088 |
648 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019600 RCV001059239 RCV000164307 RCV001762366 rs786201822 |
649 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220154 RCV001220357 RCV002247660 rs876659816 CA10577989 |
649 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002523983 RCV000492005 rs1114167844 |
651 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667248028 RCV001312868 |
651 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013729 CA10582019 RCV000226382 rs878853806 |
651 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629891 rs876660900 CA346728770 |
652 | P>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019605 rs267607983 RCV000076325 |
652 | P>H | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000818109 rs876660900 RCV000217856 CA10577990 |
652 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817592 rs1573567340 |
653 | N>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558518449 RCV000722035 |
653 | N>missing | Glioblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219670 rs751939698 CA10577991 RCV001240753 |
654 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001388238 rs864622121 RCV000204789 |
655 | V>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192099 rs1667248887 |
655 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662941 RCV000780441 RCV001836731 RCV000217714 RCV000115514 RCV001080304 CA019609 rs549467183 RCV000210146 |
655 | V>I | Turcot syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1573567451 CA915943830 RCV001013868 |
656 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491519 rs63751317 RCV000482698 RCV000791741 RCV000076327 CA16617599 RCV001069113 RCV001013869 CA019616 |
656 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213193 RCV000985799 CA032208 RCV000477485 rs185356145 RCV000791407 |
656 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346728814 rs1573567393 RCV001036045 VAR_043777 RCV001013891 |
656 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002230906 RCV000688258 RCV000479030 RCV001013864 CA16617598 rs185356145 |
656 | Y>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000076326 rs587779118 |
657 | F>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167805 RCV000491656 RCV000820959 |
657 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667249809 RCV001040060 |
657 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200827721 CA019625 RCV001013808 RCV000160637 |
658 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
rs1558518517 RCV002422643 CA346728834 RCV000759105 RCV001305256 |
658 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186090 rs1667250097 |
659 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306086 rs1667250253 |
659 | K>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076328 rs587779119 RCV001854320 |
660 | D>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501988 CA16610819 RCV002230356 |
660 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346728864 RCV000490598 RCV000491547 VAR_022671 rs1085308057 RCV001039917 |
660 | D>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587779120 RCV000202244 RCV000076329 |
661 | K>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001179138 CA346728873 rs1553368707 RCV000629738 |
661 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558518553 RCV000695286 CA346728877 |
661 | K>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779122 RCV002415554 RCV001355785 RCV000076331 |
662 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779121 RCV000076330 |
662 | Q>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480108 RCV001239760 RCV000168729 RCV001192611 CA019647 RCV002415717 rs786204321 |
662 | Q>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204321 RCV001223272 |
662 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013915 rs587780685 CA019664 RCV000122984 |
662 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63749929 RCV000076332 RCV002415555 |
663 | M>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869048 rs1558518588 RCV000762266 |
663 | M>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573567537 RCV001013913 RCV000792940 |
663 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338389 RCV000199105 CA346728907 rs863224640 RCV001013926 |
663 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
rs752241362 CA032288 RCV001190855 |
663 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA032274 RCV000573241 RCV001366530 rs752241362 |
663 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346728919 RCV000562025 RCV001858106 rs777450803 |
664 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1667251882 RCV001230975 RCV002466646 |
665 | H>missing | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347871 CA346728925 rs1573567600 RCV001013958 |
665 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63751700 RCV000076333 |
666 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340669 rs1667252115 |
666 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301645 rs876660585 CA10577992 RCV000217308 |
667 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002422758 RCV000805302 rs1573567630 |
668 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667252681 RCV001045689 |
668 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659961 RCV000215947 |
669 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002423092 RCV001944367 rs63751640 CA019779 |
669 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781556 CA346728968 rs63751668 RCV001069626 RCV001355386 RCV000566809 |
669 | G>C | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076354 RCV001854322 CA019774 RCV002415559 rs63751640 COSM3771100 |
669 | G>D | pancreas Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_067761 RCV000076346 rs63751668 CA019736 RCV001300623 |
669 | G>R | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002477219 CA019785 RCV000692084 rs63751640 RCV000076356 RCV000581599 RCV000491447 |
669 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561699 RCV000708838 CA10584219 RCV001854866 RCV000235402 rs41294982 |
670 | P>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000765672 CA019790 RCV000220086 RCV000483333 VAR_038027 RCV002265597 RCV000524371 rs41294982 |
670 | P>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001014021 CA346729080 RCV000557010 rs41294982 |
670 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346729079 RCV003129996 RCV001176636 RCV000708837 rs1558519495 RCV000688328 |
670 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189187 RCV001045938 rs1558519495 |
670 | P>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553368988 RCV000575595 |
671 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751123 RCV002422780 RCV000809947 RCV000076358 RCV000807426 |
671 | N>missing | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002510824 CA10577994 RCV000213477 rs63751232 RCV001038410 |
671 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558519505 RCV001014077 RCV000708839 RCV001064045 CA346729083 |
671 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019806 RCV002417363 rs63751232 VAR_043778 |
671 | N>Y | Hereditary cancer-predisposing syndrome LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000076361 rs63751161 |
672 | M>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203126 RCV000166295 CA019820 RCV000468110 |
672 | M>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA033352 RCV001865650 RCV003159641 rs763690339 RCV000508402 |
672 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000758652 CA346729093 rs1558519543 |
673 | G>R | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180629 rs1667299945 |
673 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076364 rs267608000 |
674 | G>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607996 CA46702316 VAR_076353 |
674 | G>A | LYNCH1; decreased mismatch repair activity [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs267607996 CA019835 RCV002415560 RCV000254985 RCV000076363 |
674 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019825 RCV000076362 rs63750234 RCV001723648 VAR_067288 |
674 | G>R | Lynch syndrome LYNCH1; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001379379 CA46702303 rs63750234 RCV001014118 VAR_004485 COSM26119 |
674 | G>S | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms LYNCH1; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs587779128 VAR_067289 CA019847 |
675 | K>A | LYNCH1; requires 2 nucleotide substitutions; unknown pathological significance; decreased mismatch repair activity [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000466288 rs1060501990 CA16611041 RCV002418381 |
675 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418262 RCV000438851 RCV001037819 rs1057520735 RCV001764355 CA16604545 |
676 | S>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057520735 COSM1614880 RCV000501150 CA346729109 |
676 | S>L | Carcinoma of colon liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002419691 rs63751089 CA019850 |
676 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001574074 RCV000579590 CA346729112 RCV001240812 rs1553369013 |
677 | T>A | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484436 rs876660711 RCV000215510 RCV000462315 CA10577995 |
677 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702976 RCV002422583 rs1558519611 CA346729121 |
678 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369025 CA346729119 RCV000580145 RCV001764699 |
678 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577996 rs876659093 RCV002228960 RCV000221435 |
678 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779129 RCV002415561 RCV001854323 RCV000076367 |
679 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_043779 | 679 | I>T | LYNCH1; somatic mutation [UniProt] | Yes | UniProt |
|
RCV000115515 rs63749932 RCV000030248 CA019872 RCV000576755 RCV000677886 COSM27628 RCV000202174 RCV001250040 RCV000524372 |
680 | R>* | lung Variant assessed as Somatic; 0.0 impact. Lynch-like syndrome large_intestine Lynch syndrome 1 Hereditary cancer-predisposing syndrome skin Malignant tumor of ascending colon Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs63749932 RCV000693732 CA019866 RCV000589676 RCV000165747 |
680 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1203462814 RCV001321629 RCV003150421 |
680 | R>L | Breast and/or ovarian cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858298 rs1203462814 CA346729131 RCV000568876 |
680 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1203462814 RCV001014159 CA346729130 RCV000759108 RCV000702670 RCV000708840 |
680 | R>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000586396 rs730881762 RCV000520788 RCV000541933 RCV000491607 CA346729133 |
681 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA019878 rs730881762 RCV000203996 RCV001014194 RCV000160598 |
681 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs730881763 RCV002422813 CA019887 RCV000219973 RCV000814388 RCV000813805 CA033402 RCV000160599 |
681 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1667302018 RCV002418798 RCV001232539 |
681 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241454 rs1553369034 RCV000657313 |
682 | T>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225433 CA019891 rs587779130 RCV002415562 |
682 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579644 rs755920849 CA346729143 RCV000689059 |
683 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000076370 RCV000132039 RCV001264415 rs267607995 CA019900 RCV001588897 RCV000202225 RCV000524373 |
683 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000490871 rs755920849 RCV000767061 RCV000485278 CA339026 RCV000410314 RCV000199994 |
683 | G>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001854324 RCV000491368 RCV000076369 rs587779131 |
684 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502041 RCV001181992 CA16610822 RCV000468168 |
684 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1667303361 RCV001235988 |
685 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630057 RCV000759109 RCV001014247 rs989001878 CA46702465 |
685 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001306562 rs1667303602 |
685 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699064 RCV001014241 rs1060499876 CA16609716 RCV000455798 |
685 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1573569948 RCV000805981 |
687 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1408265 RCV000524374 RCV000586744 rs587779133 CA019927 RCV000160600 |
687 | L>P | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_012945 RCV001260344 rs63750790 CA019942 RCV000165796 RCV000524376 RCV001588898 RCV001030713 RCV000410248 |
688 | M>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs1573569964 RCV000809480 CA346729165 |
688 | M>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524375 RCV001804825 CA019937 RCV001284172 rs63749993 RCV000076376 RCV000491088 RCV001353848 |
688 | M>R | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63749993 RCV000823002 CA346729169 RCV002415942 |
688 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_076354 | 688 | M>V | LYNCH1; loss of protein expression [UniProt] | Yes | UniProt |
|
RCV001193850 rs1060502020 RCV001863062 RCV002418650 |
689 | A>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729173 RCV000490892 rs914610419 |
689 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000810649 rs914610419 RCV001014223 CA46702482 |
689 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001014220 rs914610419 CA346729172 RCV001061882 RCV002481821 |
689 | A>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060502020 RCV000464646 CA16611044 |
689 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729182 rs1285666422 RCV001298657 |
690 | Q>H | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed |
|
rs63749878 RCV000076379 |
691 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779101144 RCV002230354 CA033506 RCV001014329 |
691 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002307442 rs754824872 RCV000579733 RCV000195748 CA033486 |
691 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001055888 RCV001760002 rs1667305232 RCV002416409 |
691 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779135 RCV000076381 |
692 | G>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751432 CA10588345 RCV000501019 RCV000772137 RCV000255143 COSM35566 RCV000803818 RCV001353568 |
692 | G>E | Carcinoma of colon Hereditary cancer-predisposing syndrome central_nervous_system Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000821619 CA346729188 RCV000491588 RCV000490901 RCV000076380 RCV001378609 CA019963 VAR_009250 rs63750232 |
692 | G>R | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs63751432 RCV001355702 RCV000076382 RCV002415563 CA019969 |
692 | G>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490880 RCV001209603 CA346729189 RCV000659883 RCV000664310 rs63750232 |
692 | G>W | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729196 RCV000657674 rs1553369089 RCV002422440 |
693 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758653 RCV000686870 CA346729192 RCV002422473 rs1558519728 |
693 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609274 RCV000445396 RCV001014350 rs1057524909 |
693 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667306622 RCV001250034 |
694 | F>missing | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000499404 rs63750689 RCV002420272 RCV000802466 |
694 | F>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729198 rs63751409 RCV001014362 |
694 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001356221 CA346729201 rs1114167857 RCV000491777 |
694 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667306822 RCV001308654 |
695 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA033555 rs772491283 RCV000679302 RCV001226997 RCV001014370 |
695 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001014369 RCV000781997 CA346729205 rs772491283 |
695 | V>M | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553369100 RCV000533358 |
696 | P>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs546201898 RCV001305404 RCV000774580 RCV000758654 CA46702586 |
696 | P>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000501546 CA019979 RCV000492029 RCV000076383 RCV001034643 rs267607994 VAR_054519 |
696 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; has no effect on ex vivo splicing assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs546201898 CA46702588 RCV000565646 RCV000629743 |
696 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
CA020005 rs63750872 RCV000076386 RCV000657647 |
697 | C>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019999 VAR_004486 RCV000076385 rs63750398 RCV000571689 |
697 | C>F | Hereditary cancer-predisposing syndrome Lynch syndrome LYNCH1; decreased mismatch repair activity; loss of protein expression; confers multiple biochemical defects [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_009251 rs63750961 CA019984 RCV002415564 RCV002228184 RCV000076384 |
697 | C>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; has no effect on MSH2 splicing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001061905 rs63750398 |
697 | C>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270946 CA019995 RCV000817438 rs63750398 RCV000490613 RCV000167253 |
697 | C>Y | Breast and/or ovarian cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002228185 RCV000076387 CA020010 RCV000490933 rs587779136 RCV000657578 |
699 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1428704795 CA346729227 RCV000773830 |
699 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587779136 RCV000204689 CA348892 |
699 | S>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1428704795 CA346729226 RCV000758655 |
699 | S>P | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001184412 rs1428704795 CA346729225 |
699 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1667308001 RCV001316297 |
700 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658251 CA10577997 RCV000215093 |
700 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558519789 CA891842725 RCV000704660 |
700 | A>K | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369113 RCV000503012 |
701 | E>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577998 RCV000479697 RCV000553991 rs876659187 RCV000221209 |
701 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491379 RCV001215708 CA346729242 rs587779137 |
702 | V>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260489 rs587779137 RCV001190856 RCV000629808 CA020024 |
702 | V>G | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001367396 RCV000564517 CA346729247 rs267607999 |
703 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802335 rs267607999 CA346729248 RCV002422743 |
703 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369051 RCV000076372 CA331444 |
704 | I>M | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000483732 RCV000708841 RCV001356541 RCV000227730 RCV000222410 rs564657106 RCV000411876 CA033790 |
704 | I>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002247555 RCV000796598 RCV000590168 RCV000160601 rs730881764 CA020041 |
704 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791368 RCV001175339 RCV000223638 RCV000001830 RCV000482957 RCV000030250 rs63749811 |
705 | V>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553369128 RCV000546593 CA346729256 |
705 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002422496 RCV000690955 CA346729254 rs1553369128 |
705 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420347 RCV000558976 rs1553369131 |
706 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA033986 rs773949031 RCV001857770 RCV000223111 |
706 | D>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346729268 RCV000568803 rs1553369135 RCV001042581 |
707 | C>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA034085 rs373226409 RCV003137826 RCV000795839 RCV000213584 |
707 | C>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001193853 RCV000160602 CA020070 RCV000491763 RCV001354130 rs373226409 RCV000410402 RCV001085231 RCV000761096 |
707 | C>Y | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750084297 RCV000630126 CA346729273 |
708 | I>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs63750108 CA020091 RCV002417652 |
708 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63750108 RCV000563438 CA346729275 RCV000629938 |
708 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000469918 rs750084297 RCV000491178 RCV000481613 CA034231 |
708 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16610889 RCV002230813 rs1060502030 |
709 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167864 RCV000491366 |
710 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA034290 RCV000629899 RCV002420671 rs373717132 |
710 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706971 RCV002422613 rs1558519878 CA346729285 |
710 | A>P | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1558519878 RCV000771721 CA346729286 RCV002533997 |
710 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047611 CA10584220 RCV000235271 rs373717132 |
710 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000763494 RCV000129341 RCV000076405 RCV000202062 rs63750636 RCV001000186 RCV001249926 COSM26860 CA020107 RCV000524377 RCV002272055 |
711 | R>* | Lynch-like syndrome large_intestine Lynch syndrome 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000807667 CA346729287 rs63750636 |
711 | R>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346729289 RCV000777516 RCV000629968 rs138465383 |
711 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001036842 rs138465383 RCV001014562 CA346729288 |
711 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA034312 RCV000758589 rs138465383 RCV001356554 RCV001545453 RCV000792263 RCV000563683 |
711 | R>Q | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001014566 CA346729290 RCV001860766 rs1573570391 |
712 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076406 RCV000706282 rs63751453 RCV001353601 |
713 | G>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA034328 RCV001014475 RCV001860762 rs753555602 |
713 | G>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001206853 rs753555602 CA034338 RCV002429884 |
713 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751224 CA020132 RCV000574384 RCV000535935 VAR_043780 |
714 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs63750545 RCV000076410 |
715 | G>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706108 rs1558519942 CA346729309 |
715 | G>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774808 RCV002534156 CA346729307 rs1268745538 |
715 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000503521 rs1553369164 RCV001218798 |
716 | D>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000500471 rs1553369165 |
716 | D>missing | Carcinoma of colon [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853809 RCV001380226 RCV000234418 |
717 | S>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051815 rs778712654 CA034355 |
717 | S>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001181937 RCV000206475 CA034373 rs752883472 |
717 | S>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001177844 rs1667312762 |
718 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001804826 RCV000214955 rs587779139 CA020138 RCV000627699 RCV000506389 RCV000076411 RCV001353948 |
718 | Q>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527341 rs587779139 CA346729326 RCV000776722 RCV000508020 RCV001539955 |
718 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045690 RCV001191591 rs63750810 |
718 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667312654 RCV001245600 |
718 | Q>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066012 rs1667313093 |
719 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA034401 rs777933557 RCV000813306 |
719 | L>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000524727 rs747265823 CA034415 RCV000214268 |
720 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000076413 rs63750722 |
721 | G>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502032 RCV002418384 RCV000460606 CA16610828 |
721 | G>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459526 RCV001269187 RCV000662733 RCV000575773 RCV001810952 CA16610829 rs587781996 |
722 | V>F | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_076355 RCV000130409 RCV000487305 RCV000509191 RCV000168465 CA020155 rs587781996 |
722 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs587779140 RCV000076414 |
723 | S>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573278 rs63750794 CA346729359 RCV001865718 |
723 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002465506 VAR_043781 COSM1668897 RCV000802176 rs63750794 CA020163 |
723 | S>F | skin Hereditary nonpolyposis colorectal neoplasms LYNCH1; decreased mismatch repair activity; has no effect on MSH2 splicing [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000702679 RCV000580596 rs879254203 RCV000236233 CA10584221 |
724 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000492028 RCV000629694 CA020167 RCV000160603 rs63751125 |
724 | T>M | 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 |
|
RCV000570096 CA346729362 rs63751125 |
724 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001762309 RCV002230803 RCV000767207 RCV000539212 CA020172 CA16610890 CA346729377 RCV000131413 RCV000524379 RCV000227062 rs587782396 RCV000486473 |
726 | M>I | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1114167847 CA346729371 RCV000491430 RCV000699809 CA346729373 |
726 | M>L | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667314656 RCV001062646 |
726 | M>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167847 CA346729372 RCV000572776 RCV000555029 |
726 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573570621 RCV000817120 |
727 | A>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183628 rs1667315336 |
727 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104895026 CA020178 RCV001014647 RCV000168145 |
727 | A>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104895026 CA020185 RCV000114841 RCV000812332 |
727 | A>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369194 RCV002289686 RCV000500339 |
728 | E>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284504 CA020191 RCV001361930 rs587779141 CA10577999 RCV000222756 |
729 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558520059 VAR_043782 RCV000773921 CA346729391 RCV000819683 |
729 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001177549 rs864622370 RCV001361901 |
730 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020196 RCV000076417 RCV002415567 rs63749802 |
731 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729408 RCV001014690 rs1573570670 |
731 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860089 VAR_043783 CA346729414 RCV000584081 rs730881765 |
732 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000160604 RCV001308489 CA020205 rs730881765 |
732 | T>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1667316325 RCV001183377 |
733 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656998 RCV000524380 RCV000236347 CA034588 RCV001358322 RCV003153472 rs772662439 RCV000662875 RCV000491392 |
733 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001755787 rs1553369204 CA346729424 RCV000568631 RCV000532179 |
734 | S>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369204 RCV001181193 |
734 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076421 RCV000687066 rs63750572 |
735 | I>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020218 RCV000471467 RCV000411526 RCV000491584 rs2229061 RCV000588732 RCV001175338 RCV000148638 |
735 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002518276 rs876658727 CA10578000 RCV000213595 |
736 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658727 RCV001318430 |
736 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729437 RCV001592981 RCV001014790 RCV001030714 RCV000798577 rs1573570754 |
737 | R>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1222434906 CA346729653 RCV001014806 |
737 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014802 rs267607997 CA46702960 |
737 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369624 CA346729664 RCV000581966 |
739 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369624 RCV001225505 RCV002429955 |
739 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000544417 rs1553369627 CA346729676 RCV000759111 |
740 | T>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729682 rs1553369628 RCV000823553 |
740 | T>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580404 CA346729680 rs1553369628 RCV001853879 |
740 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250023 RCV002418858 rs1667386244 |
741 | K>missing | Lynch-like syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071311 rs1667386150 |
741 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667386150 RCV001326367 |
741 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573573619 RCV001014839 RCV001237914 |
742 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076436 rs63751156 |
742 | D>* | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564620 rs879254183 RCV000236064 CA10584222 RCV000556812 |
742 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002431937 rs879254183 RCV001327663 |
742 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491630 RCV000236386 RCV000076434 CA020306 CA020302 RCV001353876 rs63751155 RCV000630114 RCV000851293 RCV001062167 RCV000076435 |
743 | S>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573573646 CA915943841 RCV001014854 |
743 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000507559 RCV002431464 rs63751155 CA346729718 RCV001250042 RCV001219215 |
743 | S>L | Lynch-like syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002426634 CA020311 rs63750403 RCV000076437 |
744 | L>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573573674 RCV001014891 CA346729726 RCV002549409 TCGA novel |
745 | I>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
| VAR_043784 | 745 | I>del | LYNCH1; decreased mismatch repair activity [UniProt] | Yes | UniProt |
|
RCV000202169 rs863225392 RCV000811143 |
746 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231114 RCV002429985 rs1667387473 |
746 | I>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629773 rs587779142 |
746 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751036 RCV000076442 |
747 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607690 RCV000492043 |
747 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553369641 RCV000076440 |
747 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065224 CA346729739 RCV000561848 rs1553369652 |
747 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608007 CA10582023 RCV002417987 RCV000228641 RCV001366376 |
748 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002298686 CA346729746 rs267608007 RCV000563466 |
748 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708842 CA346729747 RCV002424730 rs1558521518 |
748 | D>V | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020351 rs267608007 VAR_054520 RCV002428386 |
748 | D>Y | Hereditary cancer-predisposing syndrome LYNCH1; has no effect on MSH2 splicing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553369665 RCV000567028 RCV001865719 |
749 | E>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550802 CA46704848 rs63751477 COSM26095 RCV001014912 |
749 | E>* | large_intestine 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 |
|
VAR_043785 RCV000218283 rs63751477 CA020357 RCV000076444 RCV001062435 |
749 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; no loss of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000819543 CA346729769 rs1573573774 |
751 | G>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1734692 CA346729765 RCV000076445 RCV001014940 RCV000680198 rs63751119 RCV000508314 CA020361 RCV000561670 |
751 | G>R | Lynch syndrome pancreas Hereditary cancer-predisposing syndrome Lynch syndrome 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1573573787 RCV001014957 CA346729780 |
753 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076446 rs267608009 |
754 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001140258 RCV002500622 RCV000196465 CA035098 rs757268664 RCV000560982 RCV000589091 |
754 | T>A | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553369680 CA346729786 RCV000629984 |
754 | T>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA035112 RCV001843496 rs757268664 RCV002485413 RCV000464199 RCV000221755 RCV000780438 |
754 | T>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000504395 rs1553369686 RCV000573846 |
755 | S>K | Carcinoma of colon Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250037 rs1667389777 |
756 | T>* | Lynch-like syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793685 rs750646335 RCV000565456 RCV000759112 CA035125 |
756 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750646335 RCV001305464 |
756 | T>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781562 CA035142 rs372383829 RCV000573097 RCV001788225 RCV000464961 |
756 | T>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000583000 rs750646335 CA46704862 |
756 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491085 rs1114167824 |
757 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558521605 RCV000785435 RCV002442607 CA913189962 |
757 | Y>* | Hereditary cancer-predisposing syndrome Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729799 rs780448421 RCV001015003 RCV000690793 |
757 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553369693 CA346729798 RCV000630029 |
757 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069438 rs780448421 |
757 | Y>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014857 CA346729803 rs876658254 RCV001873256 |
758 | D>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002446812 RCV000477479 CA16611050 rs876658254 |
758 | D>N | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs876658254 RCV000215978 RCV001222233 CA10578001 |
758 | D>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798392 RCV000223378 CA020392 RCV000076448 rs63749854 |
759 | G>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000986685 RCV002444462 RCV000034800 VAR_067290 rs386833406 CA020397 |
759 | G>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome LYNCH1; unknown pathological significance; decreased mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002447293 rs386833406 RCV001302008 |
759 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346729818 RCV000805655 rs1573573888 |
760 | F>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204050 RCV001390931 RCV000167895 |
761 | G>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582024 RCV000231413 RCV001321661 rs876659937 |
761 | G>A | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729821 RCV000564777 RCV001844200 CA16610823 RCV001858296 rs1060502038 RCV000456782 RCV002446814 |
761 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220420 CA10578002 rs876659937 RCV001053718 |
761 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758590 CA346729828 rs1558521698 |
762 | L>S | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729831 RCV001176685 rs1318630651 |
763 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA020406 RCV000218725 RCV000456427 RCV000160609 rs144412585 |
763 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000076449 rs63749913 |
764 | W>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076450 RCV000491006 rs587779143 RCV000694856 CA020422 |
764 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206689 rs63751105 RCV000584494 RCV000076451 CA020435 |
764 | W>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020440 RCV000684788 rs63751105 RCV000491833 |
764 | W>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686400 RCV000236402 CA10584223 RCV001015090 rs879254058 |
764 | W>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000629759 CA346729837 RCV002448927 rs879254058 |
764 | W>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs63750346 RCV002514352 RCV000076453 |
765 | A>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1261458082 RCV001206183 |
765 | A>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338683 rs63750368 RCV000411596 RCV000215183 RCV000199509 |
765 | A>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561684 RCV001764664 RCV000698314 rs1261458082 RCV000758591 CA346729845 |
765 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000076454 rs63751143 |
766 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533797 RCV001778790 rs863225394 RCV000491734 RCV000201981 |
766 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202054 RCV000490838 rs863225393 |
766 | I>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795116 CA16617601 RCV000527665 RCV000484269 RCV000563540 |
766 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000202197 RCV000766654 rs374399939 CA020456 RCV000798203 RCV000165690 |
766 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225395 RCV000491337 RCV000800051 RCV000202080 CA279719 |
767 | S>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491604 rs1114167861 |
767 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986686 rs1573574024 |
767 | S>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144618 rs587783053 |
768 | E>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583359 RCV000535846 CA346729861 rs1553369720 RCV001770404 |
768 | E>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750896 RCV000076456 |
769 | Y>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573574086 RCV002427049 CA346729871 RCV000820262 |
769 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729865 RCV000491056 rs1114167859 RCV000825374 RCV002523441 |
769 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759827 RCV000219799 rs371718349 RCV000206397 CA035315 |
770 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001804168 RCV000217041 VAR_004487 RCV000586175 RCV000410216 CA020467 RCV000076457 rs63750684 RCV000524385 |
770 | I>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1667393512 RCV002447397 RCV001340645 |
771 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167862 RCV000491196 |
772 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015143 CA346729884 rs1573574121 RCV001202641 |
772 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1263286428 RCV001211706 RCV000581069 CA346729888 |
772 | T>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000758592 CA346729890 rs1558521813 |
773 | K>E | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000629895 CA035357 CA035333 RCV001015167 rs745528772 RCV001015168 |
773 | K>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860785 CA035391 RCV001015182 rs775464903 |
774 | I>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10582025 RCV000231884 RCV001300356 rs878853811 |
774 | I>S | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000473566 RCV001284505 CA16611051 rs878853811 RCV001015184 RCV000761089 |
774 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003168800 RCV000468999 RCV001270006 CA16610892 rs775464903 RCV000492021 |
774 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000686668 RCV002458205 rs1558521842 CA346729904 |
776 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180441 RCV000986687 rs1573574188 RCV002445144 |
778 | C>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491680 rs1114167872 |
778 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000663148 RCV000491112 rs63750618 RCV000076458 RCV001388594 RCV000115517 CA020471 |
778 | C>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750618 RCV002447369 RCV001323282 |
778 | C>W | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220511 RCV002451505 rs1667394664 |
778 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697514 RCV000490902 RCV000076459 rs63750149 |
779 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs41295292 VAR_038028 RCV000629729 RCV000160610 RCV000572885 CA020479 |
779 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167843 CA346729925 RCV001015218 RCV000629902 |
779 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491512 rs1114167843 RCV001796075 RCV002248720 CA346729926 RCV001343493 |
779 | M>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346729935 RCV000582143 rs1553369737 |
780 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369742 RCV000629985 CA346729941 RCV001015237 |
781 | A>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750233 RCV000076461 |
783 | H>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180548 CA346729956 RCV000528600 rs1553369748 |
783 | H>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020486 rs587781594 RCV000129653 RCV001047553 |
783 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369748 CA346729957 RCV000630179 |
783 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549300 CA346729967 rs1553369756 |
784 | F>C | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686602 rs1558521908 RCV002442421 CA346729971 |
784 | F>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553369750 CA346729964 RCV000541071 |
784 | F>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002445249 RCV001047648 rs1667395869 RCV002249654 |
785 | H>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196615 CA020494 rs200252727 RCV000165012 RCV000522265 RCV000587565 |
785 | H>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000213407 CA020496 rs200252727 RCV000735967 RCV000168313 RCV001580463 RCV000589584 |
785 | H>R | Colorectal cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553369759 RCV000525278 CA346729974 |
785 | H>Y | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558521929 RCV000758593 RCV001269395 CA346730002 RCV002442567 |
787 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558521925 RCV000777487 CA346729997 |
787 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480512 RCV000490851 RCV001040813 rs63750463 RCV000076464 |
788 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076462 rs63750803 RCV003162496 RCV000076463 RCV002444539 RCV001854327 |
788 | T>missing | Hereditary cancer-predisposing syndrome Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750937 RCV000144612 |
788 | T>missing | Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774440277 CA035470 RCV000585967 RCV001526856 RCV000456146 RCV000569234 |
788 | T>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876660292 RCV000695831 CA346730035 RCV000773306 |
789 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566248 RCV000820264 rs1553369769 CA346730032 |
789 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221170 rs876660292 CA10578003 RCV002229309 RCV001284506 |
789 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253732 rs1667397201 RCV002447238 |
790 | L>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693578 rs1558521949 |
790 | L>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1341247425 RCV001178523 |
791 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704029 CA346730067 RCV001797134 RCV002442526 rs1558521964 |
791 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000584623 rs587782891 RCV000806010 CA346730081 |
792 | N>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1281667531 CA346730082 RCV000679305 RCV000553342 RCV002456044 |
792 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000540856 RCV000132529 RCV001650987 rs587782891 RCV001354926 RCV001818334 CA020519 RCV000409026 |
792 | N>S | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881769 RCV001284507 RCV002451640 RCV001384160 |
793 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357332 RCV000542071 RCV000160611 CA020523 rs730881769 RCV000656881 RCV000212618 |
793 | Q>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA035514 RCV002447347 RCV000569330 RCV002288815 RCV002273983 RCV000198539 RCV001318479 rs767520406 |
793 | Q>H | Turcot syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
RCV000222790 rs730881769 RCV000529621 CA10578004 |
793 | Q>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876660291 RCV001284508 RCV000217546 RCV001365745 CA10578005 |
793 | Q>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575701 CA346730091 rs876660291 |
793 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730102 RCV000565463 RCV000554251 rs1553369781 |
794 | I>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217766 rs1553369778 CA346730100 RCV000816114 CA346730098 RCV000569025 RCV003166350 |
794 | I>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM477460 RCV000688975 CA346730122 rs1558521999 |
795 | P>Q | kidney Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001856946 RCV000491237 rs1114167832 |
796 | T>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211930 rs1667398945 |
796 | T>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730133 RCV001015359 RCV001199895 rs876660738 |
796 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs863224641 RCV000216489 RCV001577165 CA339316 RCV000200437 |
796 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863224641 RCV002454289 RCV001040239 |
796 | T>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730135 RCV000772463 rs876660738 |
796 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000213912 RCV000690363 CA10578006 rs876660738 |
796 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs863224641 RCV001181432 CA346730139 RCV000799266 |
796 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002514353 RCV000584065 RCV000219933 RCV000076465 rs63749983 |
797 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856945 RCV000491446 rs1114167826 |
798 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185618 rs1667399090 |
798 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020533 RCV000166263 rs786203105 |
798 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750498919 RCV001205556 RCV001346899 CA035539 RCV002451434 |
798 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000167962 RCV001762391 rs786204073 RCV000986688 RCV000773069 CA020537 |
798 | N>S | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000630005 RCV001015381 CA346730165 rs786204073 |
798 | N>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002550805 RCV001799022 rs1573574468 RCV001015390 |
799 | N>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001188619 rs1667399535 |
799 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209085 RCV002451450 CA035563 rs368988823 |
799 | N>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001224509 RCV000566106 CA346730193 rs1114167875 |
801 | H>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730191 RCV000490997 rs1114167875 |
801 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062324 CA346730192 RCV001015422 rs1114167875 |
801 | H>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169045 RCV001354587 CA346730189 RCV000822968 rs1573574512 |
801 | H>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750060 RCV000076468 |
803 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588000 RCV001030715 rs63751168 RCV001015432 RCV000543029 CA46705221 |
803 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202362 RCV001215820 CA020564 RCV000165131 |
803 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230804 rs1060502005 COSM1719533 CA16610824 RCV001015446 |
804 | A>T | NS Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000490846 rs1114167837 |
805 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002530753 RCV000580257 CA035692 rs779182536 |
805 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1667400871 RCV001236384 |
805 | L>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067291 | 805 | L>V | LYNCH1; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes | UniProt |
|
RCV000568311 rs758889557 RCV000480146 CA035718 RCV000708843 RCV000205485 |
806 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779144 RCV000076469 |
807 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667401329 RCV001177172 RCV001875836 |
807 | T>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484404 RCV002455914 CA035732 rs41295294 RCV001309933 |
807 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs41295294 RCV001189876 CA46705280 |
807 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000627714 CA020570 RCV000573758 rs41295294 VAR_038029 |
807 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1553369812 RCV001858108 CA658655768 RCV000571703 |
808 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs34986638 RCV002453386 CA020574 RCV000076471 |
808 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865590 RCV000500713 rs202145681 RCV001353705 RCV002446975 CA346730246 |
809 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1374788237 RCV001040811 |
809 | E>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730251 RCV001015495 rs1573574641 |
809 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1374788237 RCV000808437 CA346730248 |
809 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000034556 RCV000121564 rs202145681 RCV001030484 RCV001787035 RCV001356651 RCV001080801 RCV001093691 CA020577 RCV000129519 |
809 | E>K | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs63751079 RCV000076472 |
810 | T>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667402259 RCV001205988 |
810 | T>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751018 RCV001388595 RCV000076473 RCV002298462 CA020589 |
811 | L>* | Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1667402513 RCV001296036 |
811 | L>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573574654 CA346730263 RCV001015511 |
811 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192012 rs1667402575 |
812 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580076 rs1553369826 CA346730271 RCV001236705 |
812 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020596 CA46705323 RCV001356219 RCV000777250 RCV000129838 RCV000168339 RCV000807280 VAR_079825 RCV000482932 RCV001175571 RCV001352102 rs587781678 |
813 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms no effect on protein levels [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP ClinGen ExAC gnomAD |
|
RCV000411724 rs63749841 RCV000570186 CA020593 RCV000148639 RCV000586466 VAR_043786 RCV000790629 RCV000524387 |
813 | M>V | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1667403044 RCV001061202 RCV002451258 |
814 | L>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667403267 RCV002537641 RCV002511068 RCV001262890 |
815 | Y>C | Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1667403267 RCV001183122 |
815 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020600 RCV001201361 rs63749917 RCV000076476 RCV001015571 COSM461018 |
816 | Q>* | cervix Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001236583 CA035821 RCV003153497 RCV000221679 RCV000985803 rs768572053 |
816 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001015585 CA346730304 rs1573574730 |
817 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730299 RCV001229080 RCV000580054 rs1334775360 |
817 | V>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346730315 RCV000561225 rs1369739730 RCV001362451 |
819 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs794729229 RCV002559697 RCV001176644 |
820 | G>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561295 RCV000184050 RCV000466235 rs794729229 RCV000708845 CA020624 |
820 | G>D | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730321 rs940042059 RCV001190527 |
820 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003114617 rs1114167828 RCV000708844 RCV000491477 |
821 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1408274 RCV001015615 CA346730523 rs1573578373 |
821 | V>A | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001860800 RCV001015613 rs1573578366 CA346730515 |
821 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573578366 RCV001179422 CA346730517 RCV000793768 |
821 | V>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000587946 CA46707579 rs63749846 COSM26116 |
822 | C>* | large_intestine Lynch syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs63751621 RCV000580315 RCV000076483 RCV001723649 RCV001854329 RCV003159096 |
822 | C>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807996 rs63749846 CA346730541 |
822 | C>W | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667490450 RCV001237094 |
823 | D>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491152 rs63750623 CA020635 RCV000076485 RCV001284510 RCV000816151 |
824 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_043787 rs63750623 CA020631 COSM162583 RCV001314549 |
824 | Q>E | NS Hereditary nonpolyposis colorectal neoplasms gastric cancer; unknown pathological significance [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000805444 RCV002442690 rs1573578423 |
825 | S>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553370310 RCV001857066 RCV000502826 |
825 | S>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573102 RCV001858300 rs1553370314 CA346730569 |
825 | S>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758594 RCV001071073 COSM26097 CA46707600 RCV002445368 CA346730597 rs63750478 |
827 | G>R | Lynch syndrome large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000813131 rs1573578439 |
828 | I>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572057 RCV000469497 RCV002284395 CA036249 rs753067992 |
828 | I>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63751117 RCV002509200 RCV000985804 RCV001067777 RCV000076487 RCV001015712 |
829 | H>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569186 CA346730628 rs1180659446 |
829 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs989510855 CA46707640 RCV000691228 RCV000492018 |
829 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM3962873 CA346730626 rs1180659446 RCV001015716 |
829 | H>R | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000544839 rs1553370328 CA346730637 |
830 | V>A | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821083 rs1573578511 CA346730641 |
831 | A>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002426955 rs863225396 RCV000201967 CA279661 |
832 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702508 rs763361583 CA036265 |
832 | E>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346730650 RCV002530309 rs863225396 RCV000575224 |
832 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575248 rs1553370334 CA346730654 |
832 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667492746 RCV002431999 RCV001352619 |
833 | L>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044310 CA346730667 rs1573578539 RCV001015754 RCV001356377 |
833 | L>H | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779146 RCV000076486 |
834 | A>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63750757 RCV000679306 VAR_004488 CA020643 RCV001084815 RCV000076488 RCV000131725 RCV000659884 |
834 | A>T | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; decreased mismatch repair activity; shows no functional defects in gel shift assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000076489 RCV001051236 RCV001824598 RCV000163822 rs63751447 RCV000202117 |
835 | N>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020655 RCV000198710 rs41295296 RCV000130169 RCV000520077 |
835 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA020651 RCV000410916 RCV001082618 RCV000115519 VAR_038030 RCV000212621 RCV000656882 rs41295296 |
835 | N>H | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000567964 RCV000550167 rs779729016 CA036330 |
835 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs63750008 RCV000076491 RCV002426636 |
836 | F>missing | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791825 RCV000580935 CA346730696 rs1553370345 |
836 | F>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA46707710 RCV001179052 rs942412988 RCV001048678 |
836 | F>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1573578602 CA346730714 RCV000844898 |
837 | P>R | Ataxia-telangiectasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000534450 CA346730711 RCV001805149 rs1198289499 |
837 | P>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578009 RCV001175264 rs876659466 RCV000218052 RCV000629882 |
839 | H>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524391 RCV000479296 RCV001357139 VAR_054521 rs267608016 CA020666 RCV000216575 |
839 | H>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms LYNCH1; has no effect on MSH2 splicing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV003153356 RCV000486446 VAR_043788 RCV001085048 rs63750027 RCV000986690 RCV001354097 RCV000076492 CA020662 RCV000765673 RCV000166332 |
839 | H>R | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Ovarian cancer Lynch syndrome LYNCH1; decreases protein levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000076494 RCV000657835 rs587779147 RCV000491602 |
840 | V>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617604 RCV000482567 RCV000630056 rs1064794561 RCV000568796 |
840 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000230025 RCV002429093 CA10582027 rs878853812 |
840 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1573578666 RCV001015809 CA346730750 |
841 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730761 RCV002458414 RCV000793726 rs922747063 |
841 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA346730757 RCV000630060 RCV001015812 rs1275767178 |
841 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001232965 rs1573578666 |
841 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000076495 RCV000410241 RCV000524392 rs587779148 RCV001525554 |
842 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015815 RCV001766338 RCV000630138 rs1553370366 |
842 | E>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183949 rs373393954 CA346730767 RCV001047234 |
842 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs373393954 RCV000662576 RCV001558974 RCV000204953 RCV000565136 CA349143 |
842 | E>V | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002453387 RCV000076496 rs63749975 |
843 | C>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067292 | 843 | C>G | LYNCH1; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes | UniProt |
|
rs1667495338 RCV001212501 |
843 | C>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747700106 RCV000565473 CA346730781 |
843 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA020680 RCV000166329 RCV001194027 RCV000232782 rs747700106 RCV001594863 |
843 | C>Y | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000551281 rs1553370371 |
845 | K>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346730798 RCV001015793 rs63750571 |
845 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs63750571 RCV000524393 RCV000662762 RCV001174808 VAR_013172 CA020689 RCV001030485 RCV000076497 RCV000215108 |
845 | K>E | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary breast ovarian cancer syndrome LYNCH1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000236795 RCV001857813 rs879254133 |
846 | Q>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002453388 rs63750857 CA020692 RCV000076498 RCV000657648 RCV001207810 |
846 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656883 RCV000168241 RCV000663089 CA020697 RCV000235176 rs140754514 RCV000160621 |
846 | Q>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1667496297 RCV002430072 RCV001812992 |
847 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001570632 RCV000204877 RCV000491044 CA036472 rs746972142 |
848 | A>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000581658 CA036452 rs746972142 |
848 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040531 rs1667496559 |
848 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002426637 RCV000076499 RCV001854330 rs587779149 |
849 | L>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1316766241 CA346730856 RCV001370451 RCV001190391 |
849 | L>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000820212 RCV002426668 RCV002221491 RCV000121565 rs587778527 CA020700 |
849 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002438757 rs1667497027 RCV001327722 RCV001553379 |
850 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553370381 RCV000573214 |
851 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491427 RCV000410329 CA020709 RCV003153357 rs267608015 RCV002247471 RCV000236323 RCV000552050 |
851 | L>I | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000236960 rs267608015 CA020713 RCV000698893 RCV000129900 |
851 | L>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000532767 RCV000410280 RCV000480490 CA020728 RCV000129378 rs587781453 RCV000767208 |
852 | E>D | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000563696 rs587779966 CA346730887 RCV000697620 RCV001800769 |
852 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000115520 rs587779966 RCV000196855 RCV000221197 CA020723 |
852 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346730905 RCV002457991 RCV000630194 rs1553370397 |
853 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230812 rs766906365 |
853 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656884 rs63750797 RCV000484878 RCV000541354 RCV000164439 CA020731 RCV000663223 RCV001356683 VAR_043789 |
853 | E>A | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs63750797 RCV000524394 RCV001818240 RCV000160622 CA020735 RCV000583069 |
853 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253553 rs1114167836 RCV000491221 |
855 | Q>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553370404 CA346730930 RCV002431520 RCV000526846 |
855 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346730928 rs1553370404 RCV000530134 |
855 | Q>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000559277 rs1553370408 CA346730935 RCV000573716 |
855 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130969 rs587782256 CA020739 RCV000483907 RCV000547275 |
855 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768137500 RCV001249924 CA036646 |
856 | Y>* | Lynch-like syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692140 RCV000774582 CA020747 RCV001818241 rs587779150 RCV000662430 |
856 | Y>C | Variant assessed as Somatic; 0.0 impact. Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002516431 RCV000160623 CA020752 rs587779150 RCV001181939 |
856 | Y>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA020743 RCV000819465 RCV000985805 rs786203818 RCV000167291 |
856 | Y>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1400051085 RCV000823779 CA346730953 RCV000780442 RCV000575878 |
857 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753459308 RCV000679307 CA036657 RCV000694840 RCV000574140 |
857 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001185403 rs754533481 |
858 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356868 RCV000462770 rs754533481 CA036678 RCV000491706 |
858 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA020766 RCV000794539 RCV001015992 RCV000076506 rs63749830 |
859 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553370422 CA346730974 RCV000584527 |
859 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300819 rs1553370422 |
859 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020760 RCV000122986 RCV002247503 RCV000562134 rs63749830 |
859 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410609 rs587781278 RCV000128935 RCV000664314 RCV000168369 RCV000656885 RCV000202257 |
859 | E>missing | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020773 RCV000076507 RCV002281910 RCV002228186 rs63750849 RCV000491600 RCV000144616 |
860 | S>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001284511 COSM1408279 RCV000524395 RCV000438978 rs63750849 RCV000575134 RCV000076508 VAR_067293 CA020779 |
860 | S>L | large_intestine Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome LYNCH1; unknown pathological significance; normal mismatch repair activity [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000491532 rs63750291 RCV000076509 RCV001386002 CA020783 |
861 | Q>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750291 RCV000774957 CA346730999 |
861 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750291 RCV001186543 |
861 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000547670 RCV001016009 rs1313098392 CA346731004 |
861 | Q>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346731001 RCV000535059 rs1313098392 |
861 | Q>P | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001016014 rs876660297 CA346731009 |
862 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216656 CA10578010 RCV001854687 rs876660297 |
862 | G>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630157 RCV000579586 rs1216558739 CA346731015 |
862 | G>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000560222 RCV002431521 rs1553370431 |
863 | Y>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657824 RCV001016027 RCV000809827 CA658822769 rs1553370435 |
863 | Y>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731018 rs1573579032 RCV001016025 |
863 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667501219 RCV001524064 RCV001317136 |
864 | D>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224642 CA338641 RCV001301708 RCV000199433 |
864 | D>A | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002431853 rs1553370439 CA346731030 RCV000629934 |
864 | D>N | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553370439 CA346731033 RCV000564702 |
864 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553370443 RCV002528135 RCV000565983 |
865 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000479072 rs759912716 RCV000630027 RCV001190697 |
865 | I>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587779151 RCV000076511 |
865 | I>missing | Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580161 rs549759248 RCV000460192 CA036766 |
865 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA46707997 RCV002258160 RCV001213246 rs1013401625 |
865 | I>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000571221 rs1553370453 CA346731058 |
866 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186097 rs1667502467 |
867 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs63751400 RCV002664237 CA020798 VAR_043790 |
868 | P>A | Hereditary nonpolyposis colorectal neoplasms gastric cancer; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000708846 rs730881772 RCV001354344 RCV000203841 CA020801 RCV001193897 RCV000565478 RCV000759828 |
869 | A>E | Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA346731098 RCV000685684 rs730881772 |
869 | A>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553370464 RCV000561402 CA658655787 |
870 | A>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553370462 CA346731109 RCV000567908 |
870 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs63750709 RCV001221779 CA346731114 RCV001016051 |
870 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1156823520 RCV003163542 RCV001204232 CA346731128 COSM1021252 |
871 | K>N | 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 dbSNP gnomAD |
|
CA020810 RCV000130894 rs587782214 |
871 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563636 RCV002469017 rs587780686 RCV000122987 RCV000411448 RCV003149838 CA020814 |
872 | K>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780686 RCV000580816 CA346731138 |
872 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1558524553 RCV000773133 CA346731149 |
873 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000076516 CA020820 rs587779152 |
874 | Y>* | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776212 CA036876 RCV000630014 RCV000781567 rs775390721 |
874 | Y>C | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10584225 RCV000235500 rs879254152 RCV002229806 |
874 | Y>D | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178927 rs1667504304 |
875 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA501122 RCV002424839 rs1573579206 RCV000798885 |
876 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1271303836 RCV001860814 RCV001016084 CA346731169 |
876 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA346731167 RCV000536400 rs1553370474 RCV001016082 |
876 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429210 rs886041613 RCV002519052 RCV000353297 |
877 | R>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063932 rs1667504677 |
877 | R>* | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821334 CA346731174 RCV001355883 rs1573579234 |
877 | R>K | Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001002172 RCV003162497 RCV000076517 RCV000548456 RCV000616983 rs63751618 RCV000213582 RCV000201958 |
878 | E>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Gastric cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697249 CA020847 RCV001723650 RCV000772325 RCV000076524 rs63751624 |
878 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731186 RCV001016178 rs1573579250 RCV001054059 RCV001284651 |
878 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA036897 rs749543152 RCV001876045 RCV001181940 |
878 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000697633 rs63751469 RCV000521246 CA020860 RCV000076530 RCV000491055 |
879 | Q>* | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001064476 RCV002429713 rs63751469 CA037172 |
879 | Q>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1667576996 RCV001232136 |
881 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792951 RCV000466405 |
881 | E>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566548 rs876660450 CA346731335 |
881 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524618 rs876660450 CA10578013 RCV000221700 |
881 | E>Q | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691943 rs1284087975 CA346731362 RCV001525887 |
882 | K>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000076533 RCV000657244 RCV000160633 rs63750084 RCV000497287 RCV000561651 RCV000076532 RCV000537212 RCV000797824 RCV001357129 |
883 | I>missing | Endometrial carcinoma Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002245022 rs768983827 RCV000580301 RCV001193286 CA037199 RCV000629841 |
883 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000478084 rs1064796682 RCV000793156 CA16617610 |
883 | I>T | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA037220 RCV000566067 rs774732579 RCV000236021 RCV000804993 |
884 | I>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001016216 RCV000549838 RCV000485019 rs63750409 CA16617611 |
884 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA020873 rs63750808 RCV003155064 RCV000076535 RCV000491409 RCV001386004 RCV000202119 |
885 | Q>* | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057521018 RCV000567515 RCV001176266 CA346731408 RCV001875806 |
885 | Q>H | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808700 RCV002455962 CA346731415 RCV000501100 rs1230083633 |
886 | E>* | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA020876 VAR_043793 rs63750350 |
886 | E>G | LYNCH1; unknown pathological significance; normal mismatch repair activity [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001016229 CA346731411 rs1230083633 RCV001873274 |
886 | E>K | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002289718 RCV001193289 CA346731442 RCV002431522 rs1290935051 RCV000526536 |
887 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001357579 RCV000629927 rs63751007 RCV000076537 RCV000491264 |
888 | L>missing | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044876 rs1667578174 |
888 | L>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346731464 RCV000539123 RCV002248759 RCV001016251 rs1553370845 |
889 | S>F | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491349 CA346731472 rs1114167880 |
890 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212325 rs1114167880 |
890 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1239791741 RCV000582667 CA346731493 |
891 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000614715 rs876658211 RCV000657245 RCV000810344 RCV000214664 |
894 | M>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016316 rs1573582532 CA346731544 RCV001860822 |
894 | M>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001341611 RCV001046744 RCV000777371 rs1558526023 CA346731533 |
894 | M>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781991 CA346731541 rs1558526026 |
894 | M>R | Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558526026 CA346731538 RCV000698986 RCV001190392 |
894 | M>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001357777 RCV000561718 RCV000539916 rs786203553 CA346731558 |
895 | P>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020884 rs786203553 RCV000166913 RCV000484021 RCV001058479 |
895 | P>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731551 rs1186801216 RCV000812256 |
895 | P>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346731572 rs1558526040 RCV000773646 |
896 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696486 CA346731564 rs1558526036 |
896 | F>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000470535 RCV000569475 rs1060502037 CA16610851 RCV001560001 RCV001844163 |
898 | E>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA46712554 RCV000629815 RCV003222042 RCV000569579 rs890670494 |
898 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001016339 rs878853813 CA10582028 RCV000233718 RCV001262889 |
899 | M>I | Breast carcinoma Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573582582 RCV001016336 CA346731619 |
899 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227488 rs878853814 RCV001305492 CA10582029 |
900 | S>* | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303094 CA46712560 rs867671639 |
902 | E>* | Variant assessed as Somatic; impact. Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs876660824 RCV000698616 RCV000217786 CA10578014 |
902 | E>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567210 RCV002528134 CA346731682 rs1553370856 |
902 | E>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10578015 rs876658389 RCV000220752 |
903 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824479 CA346731724 rs1463743654 |
904 | I>F | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346731727 rs1573582638 RCV000800762 |
904 | I>N | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731722 RCV001772189 rs1463743654 RCV001016375 RCV001203323 RCV003150379 |
904 | I>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs267608022 CA020895 RCV001084144 RCV000781552 RCV000131745 RCV000235233 |
905 | T>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001016380 rs1573582647 CA346731738 |
905 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267608022 RCV000076539 RCV000129528 RCV000424772 VAR_004489 RCV000203618 CA020892 |
905 | T>R | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002229281 CA10578017 rs876659835 RCV000216683 |
906 | I>M | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA020901 rs587780687 RCV000706985 RCV000167178 RCV001356340 |
906 | I>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000122988 rs587780687 CA020898 RCV000573859 RCV002251992 RCV000412095 RCV001558333 |
906 | I>T | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10578016 rs876658598 RCV000461039 RCV000223491 |
906 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879254253 RCV000701182 CA346731804 |
909 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000412048 RCV000223226 RCV000198941 RCV000235290 CA037340 rs34319539 VAR_068709 |
909 | K>I | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms found in a colorectal cancer sample; normal mismatch repair activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000236832 RCV000812576 rs879254253 CA10584226 |
909 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197107 RCV001550881 rs34319539 RCV001798670 CA037327 RCV000491688 |
909 | K>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000463661 CA037365 rs775130557 RCV000771514 RCV001798835 |
910 | Q>K | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000772497 RCV002530899 RCV000589997 rs1553370878 CA346731831 |
910 | Q>R | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346731844 rs41295182 RCV000582577 |
911 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000589745 RCV000172810 CA020910 RCV001354813 RCV000235177 RCV000129717 RCV000760996 RCV003149751 rs41295182 RCV000524397 VAR_038031 |
911 | L>R | Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1667581727 RCV001298911 |
912 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346731848 RCV000693917 rs1060501998 |
912 | K>E | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501998 RCV002230359 CA16611064 |
912 | K>Q | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461861 CA16610856 RCV002436426 rs1060502026 |
913 | A>G | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002298895 rs1060502026 RCV001189772 |
913 | A>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573582750 RCV001016460 |
914 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020913 RCV000076542 rs267608024 RCV002433580 |
914 | E>* | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694992 CA346731896 rs1558526149 |
914 | E>G | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697646 RCV000572179 CA346731919 rs1399941088 |
915 | V>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553370884 CA346731909 RCV000630159 |
915 | V>L | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188214 rs1667582593 |
916 | I>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751216225 RCV001860831 RCV000699117 CA037420 CA346731925 RCV001016472 |
916 | I>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796529 rs751216225 CA346731923 |
916 | I>V | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001016483 CA037438 RCV000692281 rs200581817 |
917 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA346731967 RCV001016506 rs1553370893 RCV002440584 RCV001193292 RCV000532962 CA346731965 RCV000758595 |
918 | K>N | Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lynch syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
RCV002440652 CA346731971 rs1573582795 RCV000798036 |
919 | N>D | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667583110 RCV001243531 |
919 | N>I | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573582800 RCV001305455 RCV001093658 RCV001016517 |
920 | N>missing | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553370894 RCV000566034 CA346732003 |
920 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205831 rs1667583292 RCV002436791 |
920 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732031 rs1558526183 RCV000777541 |
921 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708847 CA346732071 RCV002440558 rs55859129 |
922 | F>L | Hereditary cancer-predisposing syndrome Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056005 rs1667583417 |
922 | F>S | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533753 rs146421227 RCV001016538 CA020923 RCV000148640 VAR_043794 |
923 | V>E | Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Hereditary nonpolyposis colorectal neoplasms LYNCH1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA037511 rs779846182 RCV001042664 RCV000218347 |
924 | N>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000781561 RCV000663160 RCV000231382 rs199747712 RCV000565937 RCV000485086 CA037530 |
926 | I>N | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000775821 CA46712676 rs995312903 RCV000812125 |
926 | I>V | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553370905 CA346732166 RCV000582834 |
927 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1667584495 RCV001211251 |
927 | I>M | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436814 RCV001211280 rs1667584347 |
927 | I>T | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130158 CA020930 rs587781852 RCV000600081 RCV001361853 |
928 | S>A | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349405 RCV001762430 RCV000205217 RCV001304396 rs587781852 RCV002257502 |
928 | S>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000586820 RCV000410460 RCV000487485 RCV003162498 RCV002281911 CA020933 RCV000708848 RCV000236645 rs551060742 RCV001081865 |
929 | R>* | Carcinoma of colon Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Gastric cancer Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346732210 rs587779967 RCV000562070 RCV000629872 |
929 | R>L | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587779967 RCV002436607 RCV001052366 |
929 | R>P | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469769 RCV000759829 CA020939 RCV000583830 RCV000662933 rs587779967 COSM1021253 |
929 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Lynch syndrome 1 endometrium Hereditary nonpolyposis colorectal neoplasms [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000144622 CA020942 rs587783054 |
930 | I>K | Lynch syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020945 rs587779155 RCV000411744 RCV000691322 RCV001016615 |
930 | I>M | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001176199 rs587783054 |
930 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051797 rs1667585271 |
931 | K>missing | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732230 rs1476533863 RCV002438742 RCV001324135 |
931 | K>E | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_043795 CA020951 rs267608023 |
931 | K>T | LYNCH1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000165311 RCV000236328 RCV000198076 rs786202481 |
932 | V>missing | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558526261 RCV000772225 CA346732265 |
932 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1172428337 RCV001185463 CA346732255 RCV001862914 |
932 | V>I | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587779156 RCV000076551 RCV002514354 |
933 | T>missing | Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA346732270 RCV001016362 rs1573582957 |
933 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587779968 RCV000216013 RCV000196057 RCV000588848 RCV001762226 CA020953 |
933 | T>I | Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1573582957 RCV001180785 |
933 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558906 rs587779968 RCV001755788 RCV001181312 CA346732277 |
933 | T>S | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000564878 RCV000767184 RCV000235791 rs587779969 RCV000234169 RCV001353614 CA037620 RCV000662845 |
934 | T>K | Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000212622 CA020959 RCV000115524 RCV001357791 RCV000986691 rs587779969 RCV001194031 RCV001086842 |
934 | T>M | Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs786203590 RCV000166970 CA020956 |
934 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000775698 rs1558526293 RCV001297142 |
935 | T>= | Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571289 rs876658335 RCV001858373 CA346732308 RCV001547313 |
935 | T>L | 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 |
|
CA346732300 rs1573582999 RCV000810586 |
935 | T>R | Hereditary nonpolyposis colorectal neoplasms [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA346728410 rs1573422534 |
3 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 11 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000486490 rs1064795264 |
13 | S>missing | No |
ClinVar dbSNP |
|
|
rs776671839 CA038788 |
15 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA039101 rs769731040 |
17 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA039498 rs774708147 |
21 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA46666694 rs746259256 |
25 | G>S | No |
ClinGen TOPMed |
|
|
CA041033 rs757892928 |
30 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746635262 CA041168 |
31 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA042018 rs769631146 |
33 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs63751424 CA46666852 |
34 | V>E | No |
ClinGen Ensembl |
|
|
CA346728766 rs1060502012 |
35 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754341095 CA028006 |
45 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763573151 CA028523 |
47 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1377091956 CA346728928 |
48 | E>D | No |
ClinGen TOPMed |
|
|
rs1488461123 CA346728935 |
49 | D>Y | No |
ClinGen gnomAD |
|
|
rs876658582 CA346728950 |
50 | A>V | No |
ClinGen gnomAD |
|
|
rs780840040 CA029520 |
52 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1456393710 CA346728972 |
53 | A>V | No |
ClinGen gnomAD |
|
|
CA030865 rs771255106 |
59 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA346729011 rs587779113 |
61 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558452054 CA346729019 RCV000759103 |
63 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064795914 CA16617551 RCV000481689 |
68 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1376434666 CA346729059 |
69 | P>S | No |
ClinGen gnomAD |
|
|
rs1064793802 CA346729451 |
71 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs63750042 CA035159 |
76 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA346729485 rs1203185481 |
77 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776423120 CA036666 |
86 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs63751456 CA46672800 |
93 | L>P | No |
ClinGen Ensembl |
|
|
rs1553350167 CA658795725 |
98 | Y>* | No |
ClinGen Ensembl |
|
|
CA346729649 rs1227943908 |
104 | K>* | No |
ClinGen Ensembl |
|
|
rs1363957627 CA346729681 |
106 | R>G | No |
ClinGen gnomAD |
|
|
rs780496649 CA037871 |
109 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346730003 rs1558457410 RCV000759830 |
110 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021021 rs63751040 |
110 | K>R | No |
ClinGen Ensembl |
|
|
rs770536851 CA037994 |
115 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1558457486 CA346730099 |
117 | W>C | No |
ClinGen Ensembl |
|
|
rs730881767 CA038326 |
123 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761767467 CA038365 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs17217772 CA021096 |
127 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346730359 rs1383819080 |
129 | S>P | No |
ClinGen gnomAD |
|
|
rs779803074 CA038631 |
140 | D>Y | No |
ClinGen ExAC |
|
| TCGA novel | 140 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346730450 rs878853817 |
143 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs929758799 CA46677784 |
149 | G>S | No |
ClinGen Ensembl |
|
|
CA346730490 rs1404136347 |
151 | K>E | No |
ClinGen TOPMed |
|
|
CA346730518 rs759712763 |
154 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA346730527 rs1372639847 |
155 | V>I | No |
ClinGen TOPMed |
|
|
rs786204319 RCV000168724 |
159 | R>missing | No |
ClinVar dbSNP |
|
|
CA346730592 RCV000588121 rs63751426 |
160 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1573440972 CA346730596 |
160 | Q>P | No |
ClinGen Ensembl |
|
|
rs63750126 CA346730611 |
161 | V>G | No |
ClinGen Ensembl |
|
|
CA039015 rs757733033 |
167 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs63750902 CA346730716 |
171 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147346837 CA039162 |
174 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs587779164 CA021311 |
176 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 178 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299036002 CA346730817 |
179 | P>A | No |
ClinGen TOPMed |
|
|
CA346730832 rs1159514085 |
180 | D>V | No |
ClinGen gnomAD |
|
|
CA346730853 rs730881770 |
182 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs878853819 CA346730898 |
185 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA039223 rs766497093 |
186 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA039245 rs759603999 |
187 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs63750080 CA46678168 |
189 | A>S | No |
ClinGen Ensembl |
|
|
rs63750821 CA021427 |
189 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs267607927 CA021440 |
190 | L>P | No |
ClinGen Ensembl |
|
|
rs763459034 CA039293 |
190 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346730982 rs1453901558 |
193 | Q>H | No |
ClinGen gnomAD |
|
| rs1553350789 | 195 | G>E | No | Ensembl | |
|
rs754478179 CA039398 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs587779166 CA021501 |
198 | E>K | No |
ClinGen Ensembl |
|
|
CA039519 rs781178004 |
207 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA039533 rs746013810 |
209 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 217 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762436663 CA039965 |
217 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346731709 rs1573446509 |
220 | G>E | No |
ClinGen Ensembl |
|
|
CA039981 rs763720908 |
222 | I>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000481900 CA16617559 rs1064795747 |
222 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs63749897 | 230 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs63749897 | 230 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346731914 rs1384841612 |
231 | D>H | No |
ClinGen TOPMed |
|
|
CA346732051 rs63751307 |
237 | I>F | No |
ClinGen TOPMed |
|
|
CA346732232 rs1231844538 |
246 | K>R | No |
ClinGen TOPMed |
|
|
CA022174 rs730881779 RCV000160639 |
250 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA46681506 rs63750347 |
252 | Q>E | No |
ClinGen Ensembl |
|
|
CA346732414 rs1249423454 |
256 | A>G | No |
ClinGen gnomAD |
|
|
CA46681638 rs866818044 |
259 | P>Q | No |
ClinGen Ensembl |
|
|
rs1064793863 RCV000485656 |
270 | L>missing | No |
ClinVar dbSNP |
|
|
CA46683893 rs139891783 |
271 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs587779186 CA022352 |
272 | A>M | No |
ClinGen Ensembl |
|
|
rs63749840 CA022365 |
273 | V>K | No |
ClinGen Ensembl |
|
|
rs375351205 CA46683989 |
279 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46683995 rs1024743168 |
279 | L>P | No |
ClinGen TOPMed |
|
|
CA346732823 rs63749991 |
281 | S>L | No |
ClinGen gnomAD |
|
|
rs1248694149 CA346732862 |
288 | Q>R | No |
ClinGen gnomAD |
|
|
CA346732874 rs587779190 |
290 | E>Q | No |
ClinGen gnomAD |
|
|
CA46684157 rs267607998 |
298 | Q>P | No |
ClinGen TOPMed |
|
|
rs1064793654 RCV000483225 CA16617568 |
303 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751600874 CA041105 |
305 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1294936198 CA346732995 |
309 | A>V | No |
ClinGen gnomAD |
|
|
CA346732997 rs750866402 |
310 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1060504424 CA346733005 |
311 | N>K | No |
ClinGen gnomAD |
|
|
rs970103452 CA46684318 |
313 | F>L | No |
ClinGen Ensembl |
|
|
rs1114167845 CA346733018 |
314 | Q>K | No |
ClinGen gnomAD |
|
|
rs1307482567 CA346733045 |
317 | V>A | No |
ClinGen gnomAD |
|
|
CA346733040 rs1446446614 |
317 | V>I | No |
ClinGen gnomAD |
|
|
rs1064794010 CA16617571 RCV000479663 |
320 | T>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs368982417 CA346733059 |
320 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765886157 CA041916 |
325 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553353157 CA346733103 |
330 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 335 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346733133 rs1573456437 |
335 | T>P | No |
ClinGen Ensembl |
|
|
rs63751062 CA026644 |
336 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1184524306 CA346733235 |
352 | D>G | No |
ClinGen TOPMed |
|
|
rs1465121242 CA346733233 |
352 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1673082068 RCV001269891 |
356 | I>missing | No |
ClinVar dbSNP |
|
|
CA346733272 rs1208014123 |
358 | E>K | No |
ClinGen TOPMed |
|
|
rs63751604 CA46687382 |
359 | R>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000781555 rs1558478097 CA346733524 |
360 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553356523 RCV000583441 |
361 | N>KSST | No |
ClinVar dbSNP |
|
|
CA346733536 rs1422479161 |
362 | L>* | No |
ClinGen TOPMed |
|
|
CA017227 CA346733539 rs63751699 |
362 | L>F | No |
ClinGen TOPMed |
|
|
CA46702488 rs80285180 |
367 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139652783 CA026982 |
370 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA026989 rs745889191 |
371 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459450047 CA346733615 |
375 | T>S | No |
ClinGen gnomAD |
|
|
rs1213103139 CA346733621 |
376 | L>F | No |
ClinGen TOPMed |
|
|
CA346733660 rs752373431 |
382 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346733668 rs376934727 |
383 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 386 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs63750485 CA46702690 |
387 | L>P | No |
ClinGen Ensembl |
|
|
rs1057517762 RCV000413539 |
388 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 392 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000523381 rs1553356643 |
393 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 396 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 396 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346733870 rs1447862897 |
396 | R>T | No |
ClinGen gnomAD |
|
|
CA346733996 rs1344783415 |
403 | D>G | No |
ClinGen Ensembl |
|
|
CA46702858 rs971476198 |
405 | Y>C | No |
ClinGen gnomAD |
|
|
CA027262 rs764825558 |
411 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA346734258 rs63750006 |
419 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346734272 rs767609290 |
420 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA017684 rs63750228 |
421 | L>M | No |
ClinGen gnomAD |
|
|
rs756071499 CA027348 |
423 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221492320 CA346724482 |
426 | G>E | No |
ClinGen Ensembl |
|
|
CA346724516 rs63751315 |
431 | L>S | No |
ClinGen TOPMed |
|
|
CA027986 rs766379227 |
446 | D>E | No |
ClinGen ExAC |
|
|
rs1484032641 CA346724668 |
446 | D>G | No |
ClinGen gnomAD |
|
|
CA346724679 rs1205789078 |
447 | F>S | No |
ClinGen gnomAD |
|
|
rs587781627 CA028085 |
454 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001269945 rs1675074248 |
455 | E>missing | No |
ClinVar dbSNP |
|
|
CA346724798 rs63750521 |
458 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA028477 rs750737783 |
464 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA028558 rs267607959 |
470 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
| rs1553365719 | 471 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46680314 rs867579502 |
476 | P>S | No |
ClinGen Ensembl |
|
|
CA346726858 rs1051194508 |
478 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs555986369 CA028646 |
479 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA028660 rs745666037 |
479 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 481 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225132374 CA346726948 |
484 | I>T | No |
ClinGen gnomAD |
|
|
rs1008774957 CA46680423 |
484 | I>V | No |
ClinGen TOPMed |
|
|
rs1472536680 CA346726977 |
486 | N>D | No |
ClinGen gnomAD |
|
|
rs1558508227 CA346726998 |
487 | D>Y | No |
ClinGen Ensembl |
|
|
CA028828 rs370970617 |
494 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46680676 rs63751600 |
504 | G>C | No |
ClinGen Ensembl |
|
|
CA346727703 rs1191742655 |
504 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs63751600 CA346727213 |
504 | G>S | No |
ClinGen Ensembl |
|
|
CA018534 rs267607968 |
508 | G>S | No |
ClinGen Ensembl |
|
|
CA018547 RCV000160590 rs730881758 |
509 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA029448 rs373564353 |
516 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346727783 rs1060501997 |
517 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs763323368 CA029503 |
518 | Q>L | No |
ClinGen ExAC gnomAD |
|
| rs63749930 | 518 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371291280 CA346727793 |
519 | F>I | No |
ClinGen gnomAD |
|
|
rs1225503418 CA346727794 |
519 | F>Y | No |
ClinGen gnomAD |
|
|
rs267607966 CA018626 |
523 | F>I | No |
ClinGen Ensembl |
|
|
CA346727827 rs1396878326 |
525 | V>L | No |
ClinGen TOPMed |
|
|
CA346727887 rs1179845590 |
533 | L>H | No |
ClinGen gnomAD |
|
|
rs63750029 CA029699 |
534 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs63750029 CA46685132 |
534 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980244810 CA46685191 |
537 | K>E | No |
ClinGen Ensembl |
|
|
rs747074044 CA029779 |
537 | K>T | No |
ClinGen ExAC gnomAD |
|
| rs1558511092 | 538 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46685221 rs141150847 |
541 | T>A | No |
ClinGen ESP |
|
|
rs63750432 CA018944 |
557 | T>P | No |
ClinGen Ensembl |
|
|
rs750453437 CA030467 |
559 | L>I | No |
ClinGen ExAC |
|
|
rs1553367608 RCV000499728 |
562 | E>missing | No |
ClinVar dbSNP |
|
|
CA019010 rs63751054 |
563 | Y>S | No |
ClinGen Ensembl |
|
| rs63750737 | 566 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346728126 rs1449130671 |
569 | E>K | No |
ClinGen gnomAD |
|
|
rs906877196 CA46691008 |
575 | D>E | No |
ClinGen Ensembl |
|
|
CA346728169 rs370330868 |
575 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346728168 rs1472272075 |
575 | D>Y | No |
ClinGen gnomAD |
|
|
rs751336185 CA030701 |
580 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346728196 rs63751411 |
580 | E>K | No |
ClinGen TOPMed |
|
|
rs587779964 RCV000115509 |
582 | V>missing | No |
ClinVar dbSNP |
|
|
rs1553367687 RCV000506328 |
583 | N>missing | No |
ClinVar dbSNP |
|
|
rs1436608214 COSM575521 CA346728249 |
587 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA46700015 rs951988481 |
591 | P>A | No |
ClinGen Ensembl |
|
|
rs1384503379 CA346728280 |
592 | M>I | No |
ClinGen gnomAD |
|
|
rs1558517764 RCV000780436 |
596 | N>G | No |
ClinVar dbSNP |
|
|
rs944599279 CA46700072 |
596 | N>K | No |
ClinGen gnomAD |
|
|
rs112457919 CA46700085 |
599 | L>V | No |
ClinGen Ensembl |
|
|
COSM26096 CA46700132 rs63750657 |
603 | D>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1553368570 RCV000657289 |
607 | S>missing | No |
ClinVar dbSNP |
|
|
rs1667236103 RCV001291556 |
611 | V>missing | No |
ClinVar dbSNP |
|
|
CA346728399 rs1298430398 |
614 | G>A | No |
ClinGen gnomAD |
|
|
rs1380847972 CA346728394 |
614 | G>R | No |
ClinGen gnomAD |
|
|
CA346728428 rs1260310695 |
617 | V>G | No |
ClinGen gnomAD |
|
|
rs879254204 RCV000236713 |
623 | A>missing | No |
ClinVar dbSNP |
|
|
rs781698416 CA031843 |
623 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA019493 rs63750669 |
625 | L>V | No |
ClinGen Ensembl |
|
|
RCV001200432 rs1667240539 |
627 | K>I | No |
ClinVar dbSNP |
|
|
CA019503 rs63750626 |
627 | K>N | No |
ClinGen gnomAD |
|
|
rs63750203 CA346728538 |
629 | Q>E | No |
ClinGen TOPMed |
|
|
rs63750875 CA346728614 |
636 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs730881776 RCV000160631 |
639 | H>missing | No |
ClinVar dbSNP |
|
|
rs63749946 VAR_004484 CA019570 |
641 | C>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA346728723 rs775484022 |
646 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs373475495 CA46700513 |
648 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1064793455 RCV000478538 |
649 | A>missing | No |
ClinVar dbSNP |
|
|
CA46700548 rs868745991 |
650 | F>L | No |
ClinGen Ensembl |
|
|
CA346728773 rs267607983 |
652 | P>R | No |
ClinGen TOPMed |
|
|
rs1346762892 CA346728783 |
653 | N>I | No |
ClinGen TOPMed |
|
|
CA346728821 rs1326883188 |
657 | F>V | No |
ClinGen TOPMed |
|
|
rs1371534730 CA346728850 |
659 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346728945 rs1450475535 |
666 | I>M | No |
ClinGen TOPMed |
|
|
CA16617600 rs1064794678 RCV000478897 |
668 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs63751668 CA46700757 |
669 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 671 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000759107 rs587779127 CA019811 |
671 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA46702349 rs63751445 |
675 | K>R | No |
ClinGen Ensembl |
|
|
CA46702421 rs63751002 |
682 | T>A | No |
ClinGen Ensembl |
|
|
CA033429 rs755920849 |
683 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA019906 rs267607995 |
683 | G>W | No |
ClinGen TOPMed |
|
|
rs587779134 CA019948 |
690 | Q>E | No |
ClinGen Ensembl |
|
|
rs63751409 CA46702559 |
694 | F>L | No |
ClinGen Ensembl |
|
|
CA46702673 rs876659187 |
701 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA033656 rs776820509 |
701 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA020035 rs267607999 |
703 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 709 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46702737 rs373717132 |
710 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346729305 rs1268745538 |
715 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 716 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46702850 rs63751125 |
724 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46702887 rs1001847791 |
730 | L>M | No |
ClinGen Ensembl |
|
|
rs267607997 CA346729440 |
737 | R>K | No |
ClinGen Ensembl |
|
|
rs1420354168 CA346729704 |
742 | D>G | No |
ClinGen TOPMed |
|
|
rs1188205467 CA346729719 |
744 | L>I | No |
ClinGen gnomAD |
|
|
CA346729743 rs1474166605 |
747 | I>T | No |
ClinGen gnomAD |
|
|
rs780448421 CA035170 |
757 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs35784190 CA46705083 |
782 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 783 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384620238 CA346729992 |
786 | E>D | No |
ClinGen gnomAD |
|
|
rs1341247425 CA346730060 RCV000985802 |
791 | A>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1341247425 CA346730058 |
791 | A>T | No |
ClinGen gnomAD |
|
|
rs1573574436 RCV000788994 |
795 | P>missing | No |
ClinVar dbSNP |
|
|
CA346730182 rs766586857 |
800 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 806 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346730229 rs758889557 |
806 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA46705295 rs63751018 |
811 | L>S | No |
ClinGen TOPMed |
|
|
rs1424156408 CA346730285 |
815 | Y>H | No |
ClinGen gnomAD |
|
|
CA46705349 rs940042059 |
820 | G>C | No |
ClinGen TOPMed |
|
|
CA020627 rs63751621 |
822 | C>* | No |
ClinGen Ensembl |
|
|
CA346730537 rs1198818428 |
822 | C>S | No |
ClinGen gnomAD |
|
|
RCV000504270 rs1553370324 |
829 | H>missing | No |
ClinVar dbSNP |
|
|
rs1169809892 CA346730648 |
831 | A>V | No |
ClinGen gnomAD |
|
| rs587779148 | 842 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346730789 rs1312020921 |
844 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 844 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346730796 rs63750571 |
845 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346730857 rs1171704794 |
850 | E>K | No |
ClinGen gnomAD |
|
|
rs1412599352 CA346730877 |
851 | L>P | No |
ClinGen gnomAD |
|
|
CA036616 rs774804216 |
854 | F>C | No |
ClinGen ExAC gnomAD |
|
|
RCV001284512 rs1313098392 |
861 | Q>R | No |
ClinVar dbSNP |
|
|
rs1216558739 CA346731011 |
862 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 864 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs863224642 CA346731036 |
864 | D>G | No |
ClinGen TOPMed |
|
|
RCV000482945 rs1064795368 CA16617605 |
866 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346731091 rs1458784088 |
868 | P>L | No |
ClinGen TOPMed |
|
|
CA036820 rs63751400 |
868 | P>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_043791 CA020804 rs63750709 |
870 | A>G | gastric cancer; unknown pathological significance [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
| TCGA novel | 871 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_043792 CA020817 rs63750795 |
873 | C>G | gastric cancer; unknown pathological significance [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA346731183 rs749543152 |
878 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000486454 rs1064793822 CA16617609 |
879 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs63750409 CA020870 |
884 | I>S | No |
ClinGen gnomAD |
|
|
CA346731413 rs1230083633 |
886 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs63751205 CA46712548 |
888 | L>R | No |
ClinGen Ensembl |
|
|
RCV001269924 rs1667578908 |
894 | M>missing | No |
ClinVar dbSNP |
|
|
rs748318462 CA037273 |
903 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1085308059 CA346731785 |
908 | L>I | No |
ClinGen Ensembl |
|
|
rs1553370880 RCV000519753 |
910 | Q>missing | No |
ClinVar dbSNP |
|
|
rs775130557 CA037382 |
910 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399941088 CA346731920 |
915 | V>G | No |
ClinGen Ensembl |
|
|
rs200581817 CA346731940 |
917 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767318526 COSM1327061 CA037470 |
917 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs561565629 CA46712643 |
923 | V>L | No |
ClinGen 1000Genomes |
|
|
rs755118317 CA037549 |
926 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA46712715 rs1802577 |
928 | S>* | No |
ClinGen Ensembl |
|
|
rs1558526240 CA346732218 |
930 | I>V | No |
ClinGen Ensembl |
|
|
rs786203590 CA346732283 |
934 | T>A | No |
ClinGen gnomAD |
5 associated diseases with P43246
[MIM: 120435]: Hereditary non-polyposis colorectal cancer 1 (HNPCC1)
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: 158320]: Muir-Torre syndrome (MRTES)
Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. {ECO:0000269|PubMed:7713503}. Note=The disease is caused by variants affecting the gene represented in this entry.
[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:0000305|PubMed:11306449, ECO:0000305|PubMed:21642682}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 619096]: Mismatch repair cancer syndrome 2 (MMRCS2)
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:12549480, ECO:0000269|PubMed:16372347}. 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:12792735, ECO:0000269|PubMed:14504054, ECO:0000269|PubMed:15996210, ECO:0000269|PubMed:9559627}. Note=Disease susceptibility may be 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
- Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. {ECO:0000269|PubMed:7713503}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 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:0000305|PubMed:11306449, ECO:0000305|PubMed:21642682}. 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:12549480, ECO:0000269|PubMed:16372347}. 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:12792735, ECO:0000269|PubMed:14504054, ECO:0000269|PubMed:15996210, ECO:0000269|PubMed:9559627}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
6 regional properties for P43246
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DNA mismatch repair protein MutS, C-terminal | 662 - 852 | IPR000432 |
| domain | DNA mismatch repair protein MutS-like, N-terminal | 18 - 131 | IPR007695 |
| domain | DNA mismatch repair protein MutS, core | 306 - 645 | IPR007696 |
| domain | DNA mismatch repair protein MutS, connector domain | 156 - 289 | IPR007860 |
| domain | DNA mismatch repair protein MutS, clamp | 474 - 568 | IPR007861 |
| domain | DNA mismatch repair protein Msh2, ATP-binding cassette domain | 633 - 852 | IPR032642 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| MutSbeta complex | A heterodimer involved in binding to and correcting insertion/deletion mutations. In human the complex consists of two subunits, MSH2 and MSH3. |
| 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. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| 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. |
| centromeric DNA binding | Binding to a centromere, a region of chromosome where the spindle fibers attach during mitosis and meiosis. |
| 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. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| 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. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
27 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| B cell mediated immunity | Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. |
| 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. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| germ cell development | The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 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 cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to 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. |
| maintenance of DNA repeat elements | Any process involved in sustaining the fidelity and copy number of DNA repeat elements. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| 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. |
| mitotic intra-S DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression. |
| mitotic recombination | The exchange, reciprocal or nonreciprocal, of genetic material between one DNA molecule and a homologous DNA region that occurs during mitotic cell cycles. |
| negative regulation of DNA recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| oxidative phosphorylation | The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. |
| positive regulation of helicase activity | Any process that activates or increases the activity of a helicase. |
| positive regulation of isotype switching to IgA isotypes | Any process that activates or increases the frequency, rate or extent of isotype switching to IgA isotypes. |
| positive regulation of isotype switching to IgG isotypes | Any process that activates or increases the frequency, rate or extent of isotype switching to IgG isotypes. |
| postreplication repair | The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication. Includes pathways that remove replication-blocking lesions in conjunction with DNA replication. |
| protein localization to chromatin | Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into chromatin. |
| response to UV-B | 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 a UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 280 to 315 nm. |
| response to X-ray | 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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
| 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. |
| somatic recombination of immunoglobulin genes involved in immune response | The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43248 | spel1 | DNA mismatch repair protein spellchecker 1 | Drosophila melanogaster (Fruit fly) | PR |
| P20585 | MSH3 | DNA mismatch repair protein Msh3 | Homo sapiens (Human) | PR |
| O43196 | MSH5 | MutS protein homolog 5 | Homo sapiens (Human) | PR |
| P52701 | MSH6 | DNA mismatch repair protein Msh6 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVQPKETLQ | LESAAEVGFV | RFFQGMPEKP | TTTVRLFDRG | DFYTAHGEDA | LLAAREVFKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QGVIKYMGPA | GAKNLQSVVL | SKMNFESFVK | DLLLVRQYRV | EVYKNRAGNK | ASKENDWYLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YKASPGNLSQ | FEDILFGNND | MSASIGVVGV | KMSAVDGQRQ | VGVGYVDSIQ | RKLGLCEFPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NDQFSNLEAL | LIQIGPKECV | LPGGETAGDM | GKLRQIIQRG | GILITERKKA | DFSTKDIYQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNRLLKGKKG | EQMNSAVLPE | MENQVAVSSL | SAVIKFLELL | SDDSNFGQFE | LTTFDFSQYM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLDIAAVRAL | NLFQGSVEDT | TGSQSLAALL | NKCKTPQGQR | LVNQWIKQPL | MDKNRIEERL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLVEAFVEDA | ELRQTLQEDL | LRRFPDLNRL | AKKFQRQAAN | LQDCYRLYQG | INQLPNVIQA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEKHEGKHQK | LLLAVFVTPL | TDLRSDFSKF | QEMIETTLDM | DQVENHEFLV | KPSFDPNLSE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LREIMNDLEK | KMQSTLISAA | RDLGLDPGKQ | IKLDSSAQFG | YYFRVTCKEE | KVLRNNKNFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TVDIQKNGVK | FTNSKLTSLN | EEYTKNKTEY | EEAQDAIVKE | IVNISSGYVE | PMQTLNDVLA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QLDAVVSFAH | VSNGAPVPYV | RPAILEKGQG | RIILKASRHA | CVEVQDEIAF | IPNDVYFEKD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KQMFHIITGP | NMGGKSTYIR | QTGVIVLMAQ | IGCFVPCESA | EVSIVDCILA | RVGAGDSQLK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GVSTFMAEML | ETASILRSAT | KDSLIIIDEL | GRGTSTYDGF | GLAWAISEYI | ATKIGAFCMF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ATHFHELTAL | ANQIPTVNNL | HVTALTTEET | LTMLYQVKKG | VCDQSFGIHV | AELANFPKHV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IECAKQKALE | LEEFQYIGES | QGYDIMEPAA | KKCYLEREQG | EKIIQEFLSK | VKQMPFTEMS |
| 910 | 920 | 930 | |||
| EENITIKLKQ | LKAEVIAKNN | SFVNEIISRI | KVTT |