Q9UIF7
PR
Gene name |
MUTYH (MYH) |
Protein name |
Adenine DNA glycosylase |
Names |
MutY homolog, hMYH |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4595 |
EC number |
3.2.2.31: Hydrolyzing N-glycosyl compounds |
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
3 structures for Q9UIF7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X51 | NMR | - | A | 356-497 | PDB |
| 3N5N | X-ray | 230 A | X/Y | 76-362 | PDB |
| AF-Q9UIF7-F1 | Predicted | AlphaFoldDB |
1055 variants for Q9UIF7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs757906591 RCV001179410 |
1 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs865954220 RCV001307520 |
1 | M>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464651 rs865954220 |
1 | M>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687399 RCV001770172 RCV003165560 rs865954220 RCV002282055 RCV000223135 |
1 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1646823787 RCV001066037 RCV001188722 |
1 | M>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297434 rs1646822689 |
2 | T>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1646822375 RCV001233094 |
3 | P>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659091 CA10577757 RCV000217552 |
3 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10577756 RCV000215169 RCV000818843 rs745424307 |
3 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000572771 CA089510 RCV000695272 rs745424307 |
3 | P>R | Variant assessed as Somatic; 0.0002333 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000772839 CA340137905 rs587782404 RCV000804149 |
4 | L>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064794772 RCV002526587 CA16617171 RCV002376876 RCV000481735 |
4 | L>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012116 rs587782404 RCV000131438 |
4 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553137063 RCV000640354 CA340137891 |
5 | V>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201933 RCV001177255 |
5 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201933 CA340137894 RCV000776242 |
5 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA012678 RCV000164470 rs786201933 RCV001850298 |
5 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001762479 RCV000214713 CA10577754 rs587782837 RCV000640357 |
6 | S>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002483273 RCV000656906 CA011733 RCV000212695 rs587782837 RCV000132425 RCV000458224 |
6 | S>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000698395 CA340137878 rs1382218222 |
7 | R>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001216494 rs1382218222 |
7 | R>G | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491930 RCV001238814 rs1114167687 CA340137875 |
7 | R>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873264 RCV001015414 CA340137866 rs1570591840 |
8 | L>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800108 CA340137859 rs1570591736 |
9 | S>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189247 rs1570591700 |
10 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565975 RCV001731760 RCV000527208 rs755928199 CA089468 |
10 | R>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA089469 RCV000581823 rs755928199 RCV001065926 |
10 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1570591700 CA340137851 RCV001016909 |
10 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752665489 RCV001766848 RCV002551820 CA089471 RCV001019783 |
11 | L>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019150 rs878854188 CA10581815 RCV000227994 |
11 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478455 RCV003168963 rs1064795596 RCV001209233 CA16617170 |
12 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853721 CA340137829 rs767402084 RCV000569145 |
12 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060501343 RCV001207308 RCV000468941 CA16610127 |
12 | W>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064795596 RCV001020690 CA340137833 RCV001351536 |
12 | W>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000199845 rs375349172 RCV000502616 RCV000216921 CA338910 RCV001589079 |
13 | A>T | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000131635 RCV001260346 RCV000123150 CA013492 rs587780747 RCV000485844 |
13 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340137333 RCV001021863 rs1570467299 |
14 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130881 CA013551 rs202240122 |
14 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001284667 RCV001183941 rs1570467299 |
14 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340137302 RCV000803702 rs1570467004 |
15 | M>I | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340137307 rs201163858 RCV002331331 RCV000687407 |
15 | M>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000478752 RCV000467236 CA057589 rs201163858 RCV000571566 |
15 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1570467133 RCV002332595 RCV000794526 CA340137316 |
15 | M>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803844 CA340137297 rs1570466955 |
16 | R>W | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034676 rs79777494 CA011771 RCV000121605 RCV001353745 RCV000129344 VAR_077640 RCV000123151 |
18 | P>L | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in multiple polyposis, colorectal and lung cancer cases; unknown pathological significance; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA013854 rs587780088 RCV000447652 RCV000144639 RCV003162540 RCV000763343 RCV000115767 RCV000206117 |
19 | R>* | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780088 RCV003168772 RCV000467752 CA056632 |
19 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780081 RCV001301888 |
19 | R>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986307 CA340137251 rs587780081 |
19 | R>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000212697 rs587780081 CA011787 RCV000115752 RCV000230254 RCV001194162 |
19 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000584265 rs756437904 CA057179 |
20 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057517460 RCV000571651 RCV002505996 CA16040740 RCV000409877 |
21 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570466281 RCV001025231 CA915941280 |
22 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs3219484 RCV000566823 RCV000701653 CA340137214 |
22 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_018872 CA011797 RCV000119118 RCV001353454 RCV000034677 RCV000129820 rs3219484 RCV000079503 RCV001262768 |
22 | V>M | Carcinoma of colon Breast carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553131563 CA340137198 RCV000566677 |
23 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189986 RCV000034679 rs386833408 CA011818 RCV001300424 |
24 | S>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876659143 CA10577751 RCV000640380 RCV000216257 |
24 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570466003 RCV000824636 CA340137186 |
24 | S>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129347 CA011829 RCV001353637 VAR_077641 rs75321043 RCV000034680 RCV000121606 RCV000123155 |
25 | G>D | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000814205 CA026524 rs764645557 |
25 | G>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000411408 rs587782693 RCV000132129 CA014346 |
27 | R>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA058129 RCV000773209 RCV000671051 rs768386527 |
29 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002369941 RCV000702932 rs1557492581 CA340137150 |
30 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819657 rs1570465480 CA340137147 |
30 | A>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781704 RCV000479390 RCV000129874 RCV000640397 |
31 | A>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645573077 RCV001350839 |
31 | A>D | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340137146 rs1553131489 RCV000539217 RCV002377080 |
31 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202903 CA014723 RCV003153449 RCV000165964 RCV000802392 |
32 | S>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10611140 RCV000286237 rs886046367 |
33 | Q>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224701 CA336648 RCV003126591 RCV000196716 RCV000773663 |
33 | Q>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001858117 rs863224701 RCV000566702 CA340137130 |
33 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1645571595 RCV001177178 |
34 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557492431 RCV001869087 CA340137126 RCV000772801 |
34 | E>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577750 RCV000456712 RCV000213765 rs876658745 |
35 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501336 RCV000460168 RCV002379435 |
36 | R>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1376695165 RCV001212107 CA340137112 RCV001009838 |
36 | R>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553131446 RCV000565376 CA340137108 |
36 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000640355 RCV002458050 rs1270853129 CA340137106 |
37 | Q>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1270853129 CA340137107 RCV000575333 |
37 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340137090 RCV001009989 rs1570464856 RCV001212919 |
38 | K>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572882 rs1553131429 CA340137081 |
39 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475875 CA16610145 RCV001175826 rs1060501338 |
40 | A>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167094 CA340137040 RCV001850360 CA012471 RCV000640353 rs200514222 |
42 | N>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV000824066 RCV000131452 rs563275223 CA012458 RCV001194163 |
42 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001178668 rs1645564054 |
43 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185714 rs1645561773 RCV001059766 |
44 | S>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1195175 CA10577749 RCV000216955 rs876659408 |
44 | S>N | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000700034 rs1557491929 CA340137003 RCV001011004 |
45 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212710 rs1645561128 |
47 | K>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757260904 RCV001179408 CA060270 |
47 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012777 RCV000166209 rs786203069 |
48 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577748 rs876660488 RCV000640370 RCV000214827 |
50 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000165370 RCV000985856 rs786202523 CA013039 |
52 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1245520779 CA340136935 RCV001039548 RCV000774811 |
52 | D>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781374 RCV001264535 CA011699 RCV000165078 RCV000197171 RCV000236854 |
53 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1570463568 RCV001012251 CA340136925 |
53 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001698970 rs587781374 RCV000409275 RCV000129189 CA011708 |
53 | G>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001185902 RCV001862924 rs1645395987 |
54 | M>IF | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557487867 CA340136824 RCV000700078 |
54 | M>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184675 rs1645396759 |
54 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570447125 CA340136806 RCV000794784 |
56 | A>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340136796 rs1557487793 RCV000706795 |
57 | E>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000231159 rs878854187 CA10581813 RCV000567365 |
57 | E>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1372337348 RCV001319272 |
58 | C>Y | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570446625 RCV000814087 CA340136771 |
59 | P>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340136773 RCV001013379 rs1279830238 |
59 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340136766 RCV000640376 rs763693540 RCV002280129 RCV000569625 |
60 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs541110664 CA21839914 RCV001063392 RCV001179407 |
60 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000773661 RCV001873131 rs763693540 CA055762 |
60 | G>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001215188 rs1570446268 |
61 | A>D | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339156 rs1645387931 RCV002412059 |
61 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645387931 RCV001044456 |
61 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570446268 RCV001013698 CA340136756 |
61 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553130504 CA340136750 RCV000537116 |
62 | P>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484216 CA16617169 RCV001062360 rs1064793421 RCV001013877 RCV002465682 |
63 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479773 RCV000801139 RCV000493987 rs746449748 |
64 | G>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340136712 rs1352377479 RCV001014028 |
64 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA013233 RCV001370071 rs786203354 RCV000166629 |
66 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001061960 RCV002418524 rs1645382242 |
67 | R>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767237971 RCV001064252 RCV001014554 CA056259 RCV000479870 |
68 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219858 RCV000699386 CA056369 rs759140181 RCV001813772 |
69 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000571169 RCV002489150 rs1064794128 RCV000692825 CA16617168 RCV000482126 |
70 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1471949219 RCV000776599 RCV001569571 CA340136635 RCV001370929 |
71 | E>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_077642 CA340136618 RCV000772350 rs1557487179 |
72 | V>E | Hereditary cancer-predisposing syndrome likely benign variant; does not affect DNA glycosylase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA340136612 RCV000811833 RCV000568650 rs1553130405 |
73 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645377813 RCV001201721 RCV002451412 |
75 | Q>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645377413 RCV001177948 RCV001068384 |
75 | Q>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002295312 rs1557487125 CA340136571 RCV000777554 |
76 | A>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234728 rs1645377017 |
76 | A>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549733 CA340136554 rs946755892 RCV001185483 |
78 | V>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803729 rs946755892 CA21839797 RCV002442679 |
78 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563597 rs876658645 RCV001858313 CA340136540 |
79 | S>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658645 CA340136538 RCV000582551 |
79 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218436 RCV000235580 rs773198648 RCV000525881 RCV002267956 CA057146 |
79 | S>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876658645 RCV000759883 RCV000474344 CA10577746 RCV000222626 |
79 | S>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057154 RCV000657766 rs370124822 RCV000570847 RCV000576504 |
80 | S>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000773492 rs370124822 CA340136530 RCV001869097 |
80 | S>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA340136532 RCV001015643 rs1570444542 RCV000814659 |
80 | S>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294926 rs1645373048 |
80 | S>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065387 rs1645371113 RCV001182520 RCV002268427 |
81 | Y>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA011742 RCV000034675 RCV000131672 rs200747973 RCV000471221 |
81 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001354525 RCV000505782 RCV001420901 rs558707786 RCV000220679 RCV001219416 CA057160 |
82 | H>R | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001244463 RCV002451596 rs1645370714 |
82 | H>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000215528 rs781163298 RCV000701957 CA057169 |
83 | L>V | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1557486724 RCV000708799 CA340136494 |
86 | D>H | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013287 RCV000213878 rs375526246 RCV000123148 |
87 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001191284 CA057207 rs375526246 |
87 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA340136482 rs1553130284 RCV000573546 |
88 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860833 CA340136477 RCV001016492 rs1570443687 |
89 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163063 RCV000670925 rs1553130269 |
90 | V>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814319 rs1570443585 RCV002433972 |
90 | V>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340136460 rs1553130271 RCV000640387 |
91 | T>I | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645363196 RCV001292910 RCV002436999 |
92 | A>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572435 CA340136450 rs1553130266 RCV002528992 |
93 | F>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057238 RCV001016877 rs750954949 RCV001860844 |
93 | F>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA340136448 RCV000562167 RCV000820432 rs750954949 RCV000600493 |
93 | F>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000235267 RCV000471769 rs138775799 COSM290186 CA013297 RCV000129018 |
94 | R>* | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000555612 RCV001354534 rs755653922 RCV000612945 RCV003151751 RCV000164952 RCV003153444 CA013305 |
94 | R>Q | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001017526 RCV001308214 CA340136440 rs1570443086 |
95 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557486313 RCV001385505 RCV000777549 |
96 | S>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294644 rs1645359691 |
96 | S>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340136429 RCV001036445 RCV001017754 RCV002249633 RCV001228835 rs752209909 CA057259 RCV000567732 |
96 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000160749 rs730881831 CA013315 RCV000221619 |
97 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219482 CA10577745 RCV001853603 rs876660011 |
98 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057312 RCV000568035 rs759170125 RCV001858115 |
98 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1645356863 RCV001230377 |
99 | S>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000199027 RCV000773660 CA338347 rs863224697 |
99 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523882 CA013324 rs748170941 RCV000196257 RCV000164326 |
100 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000697243 rs1553130185 RCV000571879 RCV000657695 CA340136412 |
100 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050678 COSM3944130 rs748170941 CA340136408 |
100 | W>C | ovary Familial adenomatous polyposis 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000005617 RCV000486820 RCV000163049 RCV002496270 RCV001353649 CA013334 rs121908380 RCV000661934 |
101 | Y>* | Carcinoma of colon Familial colorectal cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16610202 RCV002323701 RCV000462774 rs1060501344 |
101 | Y>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501344 CA340136406 RCV000539814 |
101 | Y>H | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340136400 RCV000772281 RCV001068911 rs1557485832 |
102 | D>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780746 RCV002322085 CA21839659 RCV001223873 |
102 | D>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000759161 RCV000123149 RCV000609799 CA013355 RCV000131617 VAR_077644 rs587780746 |
102 | D>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome found in multiple polyposis and sporadic colorectal cancer cases; unknown pathological significance; does not affect DNA glycosylase activity; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA340136401 RCV001208809 RCV000569328 rs587780746 |
102 | D>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340136390 rs1553130148 RCV001299398 RCV000564382 |
103 | Q>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561126 CA16610200 RCV000458657 rs1060501339 |
104 | E>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773108803 CA340136387 RCV001019143 RCV002549498 |
104 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000470709 rs773108803 CA057360 RCV003168773 |
104 | E>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000555832 rs876658237 CA10577744 RCV000223249 |
105 | K>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052961 rs765123255 |
106 | R>G | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761763725 CA057382 RCV000532016 RCV001019554 RCV002261103 |
106 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000581587 RCV001853928 rs761763725 CA21839643 |
106 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000230772 CA013370 RCV000442590 RCV000162761 rs765123255 RCV001353971 RCV003162684 |
106 | R>W | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221272 rs1553130086 CA340136366 RCV000564491 |
107 | D>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340136370 RCV000565452 rs1553130091 |
107 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553130091 CA340136371 RCV000806544 |
107 | D>Y | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557485553 CA340136361 RCV001020006 RCV000699792 |
108 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234687 rs878854189 |
109 | P>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1217742466 CA340136356 RCV000575798 RCV002526879 |
109 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001206801 rs888691362 RCV000776071 CA21839639 RCV001354223 |
110 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000223250 rs776719541 RCV000640359 RCV002458051 RCV000640381 CA340136353 CA057398 |
110 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686097 rs1557485377 CA340136344 |
111 | R>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA21839637 rs950856923 RCV000771420 RCV002249421 RCV000704923 |
112 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373766973 CA340136333 RCV001020376 RCV001061774 |
113 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA340136332 RCV000777589 rs587782683 |
113 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000515197 RCV000479477 rs587782683 CA013393 RCV000780501 RCV000197990 RCV000132110 |
113 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373766973 RCV001353576 RCV000656907 RCV000195451 CA013382 RCV000212698 RCV000132238 |
113 | R>W | Carcinoma of colon Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1304163797 RCV001020455 CA340136317 RCV001221729 |
114 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000576676 rs1553129892 RCV000777015 CA340136310 |
115 | E>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553129892 RCV000533366 CA340136312 |
115 | E>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001296133 rs1557484399 CA340136282 RCV000772871 |
118 | M>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340136284 RCV000708798 rs1557484437 |
118 | M>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020844 CA340136273 rs876660505 |
119 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781444 RCV001731386 CA013471 RCV001795250 RCV000460472 RCV000129359 |
123 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10577741 RCV000559697 rs876660615 RCV000218591 |
125 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_026045 | 125 | Y>H | FAP2; decreased function in DNA repair [UniProt] | Yes | UniProt |
|
rs1553129798 RCV001322158 |
126 | A>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580647 CA340136236 rs1553129798 RCV000535741 |
126 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000521741 RCV000128998 rs587781295 RCV001068416 CA013516 |
128 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001069108 rs587781295 |
128 | W>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013507 RCV000212700 VAR_026046 RCV000701601 rs730881832 RCV000160751 |
128 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000573409 rs1553129676 |
129 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577739 RCV000640366 RCV000215292 rs876660804 |
129 | V>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763273196 RCV001230781 |
129 | V>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000590403 RCV000165052 rs763273196 RCV001731494 RCV002478507 RCV000466109 CA013526 |
129 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001323117 rs1645276297 |
131 | E>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350188 rs864622450 RCV000566693 RCV000206122 |
131 | E>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553129652 RCV000473747 |
133 | M>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777514 RCV002298767 CA340136159 rs1557482691 |
136 | Q>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548215 rs1553129638 |
138 | Q>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219018 CA10577738 rs876659625 |
138 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1454101217 TCGA novel RCV001040864 |
139 | V>I | Familial adenomatous polyposis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1570433288 RCV000813914 RCV001759579 CA340136138 |
140 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660791 RCV000528762 CA10577737 RCV000213787 |
142 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230803 RCV002327552 rs1645267570 |
144 | N>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985860 CA013572 RCV000228615 rs771641237 RCV000165758 RCV002485025 |
144 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1570433022 RCV001022500 CA340136101 |
145 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570433085 RCV001022477 RCV001242858 CA340136104 |
145 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645266736 RCV001049885 |
145 | Y>H | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340136096 RCV000536667 RCV001189381 rs1221837292 |
146 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA013582 RCV001039571 RCV000164386 RCV001194164 rs745507536 |
147 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_064938 | 148 | G>GIW | FAP2; reduced DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair [UniProt] | Yes | UniProt |
|
CA340136087 COSM1343047 RCV000688220 RCV000792047 RCV000130757 CA013601 rs587782165 |
148 | G>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002339609 rs1645261795 RCV001225731 |
149 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484268 rs876660190 RCV000461918 RCV000215777 |
149 | W>IW | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689501 rs1261588058 CA340136082 RCV001525310 |
149 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501328 CA16610128 RCV000474511 RCV000775763 |
150 | M>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770511 RCV002298675 RCV000569034 CA340136071 rs1553129535 |
150 | M>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645260006 RCV001192319 |
151 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657380 RCV003140050 rs1553129349 |
152 | K>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577735 RCV000216618 rs876660787 RCV000485126 RCV000707329 |
152 | K>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003165561 CA057931 RCV002500727 RCV000213856 RCV000235993 rs762307622 RCV001353489 RCV000411443 |
153 | W>* | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340136019 RCV003133383 rs762307622 RCV000580319 |
153 | W>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340136023 RCV000773822 rs1557481282 |
153 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355674 rs777184451 RCV000165108 VAR_077646 CA013620 RCV000226581 |
154 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000491960 rs1114167684 CA340136006 RCV001323975 |
154 | P>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001022938 rs1570428456 |
155 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186108 rs1645229700 |
155 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771549068 RCV002334112 CA057957 RCV000640389 |
155 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000215207 RCV000554382 CA10577734 rs199862273 RCV000766675 |
156 | L>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000583931 CA340135990 rs1490584219 |
156 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000772991 rs1212933615 CA340135980 |
157 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000708797 RCV000567523 CA340135979 rs1212933615 |
157 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013648 RCV000656908 RCV000204817 rs564930066 RCV000129002 RCV000481844 |
158 | D>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA013660 rs587782132 RCV000130676 RCV000640367 |
158 | D>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1570427705 RCV001862254 CA340135946 RCV001023202 |
160 | A>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340135953 rs1570427764 RCV000806139 |
160 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3386203 rs1557480827 CA340135939 RCV001861869 RCV000679428 |
161 | S>N | pancreas Familial adenomatous polyposis 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000228243 RCV000165474 RCV000590519 CA013670 RCV003155097 rs201103359 |
162 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA013678 RCV000640373 rs587780087 RCV000115765 |
163 | S>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340135921 rs1570427458 RCV000809899 |
163 | S>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553129230 RCV000579879 CA340135905 RCV001053091 |
165 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002341499 RCV001206070 rs1553129062 |
166 | E>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117343 RCV000572524 CA340135865 rs1553129078 |
166 | E>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002293428 rs764546111 CA058105 RCV000217176 RCV000557309 |
166 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340135866 RCV003159815 RCV000544923 rs1553129083 |
166 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000640384 CA340135867 rs1553129083 |
166 | E>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203212 RCV000166425 CA013711 |
167 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203212 RCV002476226 RCV000574829 RCV000640369 CA340135857 |
167 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166145 CA013723 rs773674701 RCV000457696 RCV001280570 |
168 | N>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs864622242 RCV002336556 CA349356 RCV000205162 |
168 | N>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781528 RCV001361000 RCV000129521 CA013734 |
168 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1466705435 CA340135810 RCV001023670 RCV000640351 |
170 | L>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1570423912 CA340135806 RCV001023690 |
170 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340135796 rs1306473047 RCV001218539 RCV000985861 RCV002346192 |
171 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340135791 rs1570423722 RCV001023769 |
171 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1306473047 CA340135793 RCV001023752 |
171 | W>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340135801 RCV002348846 RCV001248176 rs1404599487 |
171 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001247996 rs1306473047 |
171 | W>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545846 CA340135784 rs770478980 |
172 | A>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001800770 rs770478980 RCV000702202 CA058137 RCV000573714 |
172 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000569402 RCV000985862 rs1057517457 RCV000412332 |
173 | G>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469829 rs1060501345 CA16610143 |
173 | G>D | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813812 rs1553128962 CA340135730 RCV000569508 |
175 | G>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183600 rs1645192561 |
176 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144631 VAR_018873 RCV000005613 RCV000121607 RCV000079502 RCV002476933 RCV003137494 rs34612342 RCV000005612 RCV002251879 RCV001554314 CA011761 RCV000115766 |
176 | Y>C | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Endometrial carcinoma Gastric cancer Paragangliomas 1 FAP2; loss of DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000561565 CA340135700 rs1553128929 |
177 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645192232 RCV001296789 |
177 | Y>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_077647 | 177 | Y>S | FAP2 [UniProt] | Yes | UniProt |
|
RCV000225912 rs769684812 CA058159 RCV002347872 |
178 | S>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915941276 rs1570422674 RCV000822973 |
178 | S>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577731 RCV000534271 RCV000221169 rs876658906 |
178 | S>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664278 RCV000640349 rs769684812 CA21838772 |
178 | S>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001246375 rs769684812 RCV000572878 CA340135690 |
178 | S>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003153454 rs747993448 RCV000166998 CA013785 RCV000229525 RCV002272151 VAR_064939 RCV000236750 |
179 | R>C | Pilomatrixoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Ovarian cancer FAP2; also found in multiple polyposis and colorectal cancer cases; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001209735 rs747993448 RCV001524498 |
179 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000508179 RCV002478487 COSM175679 RCV000214896 RCV000200700 rs143353451 CA013795 VAR_026047 RCV000160752 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 large_intestine Hereditary cancer-predisposing syndrome FAP2; loss of DNA glycosylase activity; loss of function in DNA repair [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001770127 RCV000164867 RCV000799235 rs143353451 CA013808 |
179 | R>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001024139 RCV001811496 RCV000807417 CA340135670 rs143353451 |
179 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587781864 RCV000456187 RCV000130180 CA013822 RCV000519177 |
180 | G>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1645188053 RCV001054538 |
180 | G>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013841 RCV000482615 RCV000557996 rs758567247 RCV000167475 |
181 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000657000 RCV001526816 CA013832 RCV000485428 RCV000167037 RCV000233436 rs779997419 |
181 | R>W | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs533899702 VAR_077648 RCV000566675 CA058221 RCV000640396 |
182 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001004834 RCV000478161 RCV000562580 CA058212 VAR_064940 RCV001643192 RCV000803247 rs750592289 |
182 | R>W | Breast carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Familial cancer of breast FAP2; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002348303 rs1060501337 RCV000474198 RCV000506764 CA16610196 |
183 | L>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000669566 CA340135601 RCV002343420 rs1553128813 |
184 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013867 RCV000235859 RCV000165256 rs757503642 RCV000534025 |
184 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1335408660 RCV000589262 RCV000567650 RCV001764642 CA340135574 RCV000801439 |
185 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340135589 RCV000562332 COSM1258335 RCV000701792 rs1428261191 |
185 | E>K | oesophagus Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA340135580 rs1553128788 RCV000793415 RCV000580110 |
185 | E>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077649 CA058243 rs754155145 |
186 | G>E | FAP2; decreased function in DNA repair [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000771753 rs754155145 CA340135566 |
186 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001759460 RCV001246572 RCV000776070 rs764458059 CA21838704 |
187 | A>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000219640 RCV000470639 CA10577730 RCV001192932 rs764458059 |
187 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764458059 RCV000566534 CA058249 RCV001309478 |
187 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002350269 RCV000551054 CA340135555 rs1553128757 |
187 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561703 RCV002476227 rs761101420 RCV000705814 CA340135541 |
188 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000765176 CA013903 RCV000212702 RCV000168022 RCV000115768 RCV001192928 rs369677603 |
188 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000165580 rs761101420 CA013889 RCV000204489 RCV001594862 |
188 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238574 RCV001759467 CA340135528 RCV000777572 rs1557478342 |
189 | K>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660092 CA16610120 RCV000468414 |
189 | K>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs879254293 CA10584151 RCV000236809 RCV001218841 |
190 | V>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340135467 RCV000565520 rs1553128642 RCV002530341 |
191 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340135458 RCV000573232 RCV001346639 rs1384803634 RCV001755947 |
192 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000478506 RCV000571018 rs745921592 CA058359 RCV000475342 |
193 | E>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001375560 RCV000129775 rs587781645 RCV000484778 CA013929 RCV000539493 |
193 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303307 rs745921592 |
193 | E>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002560939 rs1645156886 RCV001189225 |
195 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679430 RCV002352098 rs1263648272 CA340135431 |
196 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001297528 rs1645156181 |
196 | G>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340135414 rs1172521297 RCV001315327 RCV000561894 |
198 | M>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553128595 RCV000527985 CA658656927 |
198 | M>IS | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001844192 RCV002358501 CA340135419 RCV000547425 rs1553128600 |
198 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130971 CA013944 rs587782258 |
198 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778104957 CA058405 RCV000461692 RCV002356666 |
199 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001175998 rs1645153275 |
199 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013965 RCV000220980 rs587780748 RCV000478528 RCV000123152 RCV001824618 COSM1645292 |
200 | R>C | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587780748 RCV000167073 RCV000640347 CA013955 |
200 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs538383136 CA058419 RCV000476106 COSM1195469 RCV000217909 |
200 | R>H | lung Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000463276 rs538383136 CA16610137 |
200 | R>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000470362 RCV000657152 rs538383136 CA013976 RCV000484208 RCV000129904 |
200 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000164707 RCV001053084 CA013987 rs759988845 |
202 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1645149413 RCV002356931 RCV001218449 |
203 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176620 RCV000640362 rs1553128548 CA340135392 |
203 | E>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207835 rs749896967 |
204 | T>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376561094 RCV000426595 RCV000554059 RCV000223123 CA058460 |
207 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823192 CA340135368 rs1570416757 |
207 | Q>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577728 rs876660154 RCV000214264 RCV000795483 |
208 | L>F | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001294447 rs1645145092 |
208 | L>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570415363 RCV000819711 |
209 | L>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570416435 CA340135356 RCV000820063 |
209 | L>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349772 rs1645143512 |
210 | P>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001358407 CA014022 RCV000164298 RCV000502295 rs776487884 |
212 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001576133 RCV000542510 CA058472 rs768553551 VAR_077650 RCV000216464 |
213 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000410783 RCV000508296 RCV002485012 rs537292657 CA014031 RCV001698984 RCV000163703 |
214 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs147754007 RCV000129023 RCV000482890 CA014050 RCV000411202 RCV001778745 RCV000766702 COSM1639902 |
214 | R>H | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs537292657 RCV000564009 CA340135333 RCV001038690 |
214 | R>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000822025 CA340135328 rs1570415740 RCV001188709 |
215 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577727 rs745808534 RCV001211192 RCV000220689 |
215 | Y>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340135322 RCV000986305 rs771064557 |
216 | T>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178266 rs771064557 |
216 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759578 CA058520 rs771064557 RCV000813910 |
216 | T>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001206558 rs1489217206 |
217 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640382 RCV000481354 RCV001025477 CA16617165 rs1064793779 |
218 | G>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491459 CA340135307 rs1114167683 RCV000640395 |
219 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340135302 rs1557476104 RCV000704277 RCV001184087 |
219 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002477280 RCV000212703 RCV000115769 RCV000197617 RCV000586038 VAR_077651 CA014073 RCV001358471 rs200872702 |
220 | I>V | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in multiple polyposis case; unknown pathological significance; reduced DNA glycosylase activity; no effect on function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000690950 CA340135294 rs878854192 |
221 | A>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227938 rs878854192 CA10581809 RCV000772146 |
221 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645132762 RCV001302848 |
222 | S>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025645 rs371875647 CA340135279 |
223 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001559546 CA014084 rs200965879 RCV000164430 RCV000669978 |
223 | I>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000589976 RCV000460674 RCV000222437 COSM910160 RCV001175349 rs369854269 CA058577 |
224 | A>T | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10577726 RCV000218668 VAR_077652 RCV000475653 rs11545695 |
224 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs752114814 RCV000554982 RCV002485032 RCV000166547 RCV001589037 CA014110 |
226 | G>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130293 rs371102235 RCV001347366 CA014096 |
226 | G>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000487288 RCV000707275 RCV001025763 CA16617164 rs1064796630 |
227 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309556 rs1064796630 |
227 | Q>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025797 rs199989617 CA340135257 |
227 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001239087 RCV002366051 rs1645128943 |
227 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781551140 RCV000570410 CA058713 RCV000687170 |
228 | A>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000474739 rs587782351 RCV000455747 RCV000131294 CA014124 |
229 | T>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000531000 rs587782351 CA058731 RCV001185801 |
229 | T>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147487160 RCV000567412 CA058781 RCV002480377 RCV000480983 RCV000460021 |
230 | G>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001371217 rs377639760 CA058769 RCV000567047 |
230 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000759167 RCV000570183 rs377639760 CA16610136 RCV000474962 |
230 | G>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000123153 RCV000212704 rs200165598 RCV000131773 VAR_077653 CA014145 RCV000586141 |
231 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome probable disease-associated variant found in a case of familial colorectal cancer; no significant effect on DNA glycosylase activity; slightly decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1570409746 RCV001025963 |
232 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660729 RCV000219744 CA10577725 |
233 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570409700 RCV001025999 CA340134913 |
233 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026053 CA340134895 RCV001225954 rs1570409596 |
234 | G>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186828 rs1645099488 |
234 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517765 RCV000502397 CA16042398 RCV000414648 VAR_077654 RCV001026079 RCV001353995 |
235 | N>S | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; loss of DNA glycosylase activity; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057517765 RCV001851159 RCV000479523 RCV000574246 CA16617163 |
235 | N>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482643 RCV000792421 rs1064793197 RCV002374880 |
236 | V>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993997 RCV000167374 RCV000409405 rs759295912 CA014175 |
236 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759295912 RCV000565067 CA340134881 |
236 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774237159 RCV001175980 |
237 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468855 RCV000565823 rs774237159 RCV001356323 CA058824 |
237 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000212705 RCV000656909 RCV000458598 CA014186 RCV000160753 rs369120013 |
237 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060501346 RCV000459400 RCV000584291 CA16610124 |
238 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000235834 VAR_026048 RCV000164664 CA014196 rs34126013 RCV000369240 |
238 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in a case of sporadic colorectal cancer; unknown pathological significance; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1645090735 RCV001046675 |
239 | V>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164890 RCV000487349 RCV001797650 RCV000204713 RCV000480213 CA16617161 CA014205 rs769766446 |
239 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA058850 RCV000217549 RCV000686969 RCV000485459 RCV000766433 rs769766446 |
239 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048319 rs1645090090 RCV002379534 |
240 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645090090 RCV001303739 |
240 | L>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026256 rs1570408704 CA340134853 |
241 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA058870 RCV000560428 rs375346290 RCV000222576 |
241 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000722047 RCV000034678 rs200495564 RCV000129829 RCV000482239 RCV003162293 CA011806 RCV002496519 VAR_077655 |
242 | R>C | Familial colorectal cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer probable disease-associated variant found in multiple polyposis cases; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_077656 CA014226 COSM681164 RCV001262379 RCV001353906 RCV000129105 RCV000515198 RCV000196778 rs140342925 RCV003129783 RCV000212706 |
242 | R>H | lung Familial adenomatous polyposis 4 Carcinoma of colon Breast carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; loss of function in DNA repair [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs864622114 RCV000203961 CA348240 |
243 | V>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131615 RCV001292933 CA014236 rs587780749 VAR_077657 RCV000123154 RCV000212707 |
243 | V>F | Pilomatrixoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000475824 RCV000222948 rs587780749 CA058920 RCV001549280 RCV000590172 |
243 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000144630 CA014247 RCV003162593 rs587782885 RCV000236829 RCV000132522 RCV000500909 |
244 | R>* | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587782885 VAR_077658 RCV000767386 CA340134841 RCV002386286 |
244 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome reduced DNA glycosylase activity; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs777335285 CA058944 RCV000985863 RCV000582142 RCV000467495 |
244 | R>Q | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA058956 RCV000214035 rs755635173 |
245 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340134829 RCV001026475 rs1570407749 |
246 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753509 rs587781529 RCV000129523 RCV000819363 CA014271 |
247 | G>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001853568 RCV000221323 CA10577724 rs876659465 |
249 | D>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167023 rs564919438 CA014302 |
250 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs564919438 RCV001764700 RCV001860050 CA058977 RCV000579687 |
250 | P>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001863016 CA059004 rs754652471 RCV001190269 |
251 | S>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340134797 RCV001187454 RCV000809277 rs1570407081 |
252 | S>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000530727 RCV002395378 rs1553128005 CA340134795 |
252 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340134789 RCV001873414 rs1570406957 RCV001026686 RCV001585928 |
253 | T>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570927 RCV000543190 CA059024 RCV001770436 rs766173546 |
253 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001190268 RCV001859142 CA059012 rs766173546 |
253 | T>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA21837319 RCV001037758 rs112422930 RCV001026746 |
254 | L>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001175948 rs1645076048 |
256 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340134770 RCV000561322 rs1553127975 |
256 | S>F | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs773087549 CA059049 RCV001222430 RCV000235928 |
257 | Q>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000775623 RCV001856121 rs773087549 CA340134769 |
257 | Q>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340134756 RCV001766614 RCV001026865 CA059057 RCV000777407 rs765339120 RCV001068681 |
258 | Q>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1645074800 RCV001208811 |
258 | Q>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794479 rs1570406302 RCV003166117 CA340134745 |
260 | W>* | Familial adenomatous polyposis 2 Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685563 CA340134730 rs1338038953 |
260 | W>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1557472871 CA340134748 RCV001026908 RCV000684904 |
260 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570406302 RCV001068994 |
260 | W>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340134728 RCV000640386 rs1328890188 |
261 | G>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001356147 CA340134723 RCV001026955 RCV002524138 rs1570404090 |
261 | G>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340134721 rs878854194 RCV001299308 |
262 | L>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA014322 rs750344996 RCV000166396 RCV000698428 |
263 | A>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750344996 RCV001210671 |
263 | A>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203115 RCV003223616 RCV003162709 RCV000198325 RCV000166279 CA014333 |
264 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553127846 CA340134710 RCV000640345 |
264 | Q>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645052808 RCV001307136 |
265 | Q>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420742 rs1553127825 |
267 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1331273811 CA340134689 RCV001314917 |
267 | V>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1331273811 RCV000581418 CA340134688 |
267 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340134692 RCV002528009 rs765046399 RCV000567883 |
267 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA059229 rs765046399 RCV000802984 RCV000563931 |
267 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002463653 CA014368 RCV000411809 RCV000164236 rs786201772 |
269 | P>S | Familial adenomatous polyposis 2 Lynch syndrome 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1645047324 RCV001179877 RCV001036654 |
270 | A>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562264 RCV001365013 rs1553127798 CA340134672 |
270 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027296 CA340134668 rs149866955 |
271 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129219 RCV000034681 CA011841 RCV000123156 RCV000613933 rs149866955 |
271 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003159665 RCV000519616 rs769237459 COSM1638133 RCV000640346 RCV000570778 CA059263 VAR_077659 |
271 | R>W | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome bone Gastric cancer FAP2; loss of function in DNA repair [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA340134657 rs1557471507 RCV000708794 |
273 | G>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027377 CA340134654 RCV002552002 rs1553127779 |
274 | D>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340134652 RCV000816254 RCV000574062 rs1553127779 |
274 | D>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781953 CA014451 RCV001232259 RCV000130325 |
276 | N>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577723 RCV000223375 RCV001800559 rs587778534 RCV001220277 |
276 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000985864 RCV000491219 CA014438 RCV000121590 rs587778534 RCV000410208 |
276 | N>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000464676 CA16610189 rs1060501329 RCV000581325 |
278 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340134609 RCV001017815 rs1570402446 RCV001860876 |
279 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476647 RCV000132291 CA014460 rs587782764 |
279 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002445354 RCV001068451 rs876659676 |
280 | M>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570282 rs1553127709 |
280 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350437 rs1645038575 |
280 | M>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610184 rs1060501327 RCV001188946 RCV000458648 |
280 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536194 VAR_077660 RCV000479475 rs876659676 RCV001355443 CA10577722 RCV000216419 |
280 | M>V | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; reduced DNA glycosylase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002447135 rs141280536 RCV001226431 CA059334 |
281 | E>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1570402068 RCV001036602 |
282 | L>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160754 rs730881833 CA014470 RCV000221854 VAR_077661 RCV003162678 RCV000191933 |
283 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer FAP2; also found in a patient with multiple polyps; unknown pathological significance; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs772540425 CA059342 RCV001060217 |
283 | G>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000691462 CA059361 RCV002442443 rs730881833 |
283 | G>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000499908 RCV001310852 RCV000777643 RCV001353713 rs761468459 |
284 | A>missing | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175988 rs1557470940 CA340134547 |
284 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014480 rs786204085 RCV000223152 RCV000167981 |
284 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570400946 RCV000793953 |
286 | V>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795466 RCV000775777 RCV000479935 CA16617160 RCV002525888 |
287 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781949 CA340134495 RCV000580937 |
289 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814364 RCV000218669 CA059437 rs780500491 |
289 | P>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000549648 RCV000130319 rs587781949 CA014523 |
289 | P>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860903 CA340134488 RCV001018313 rs1553127659 |
290 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553127659 CA340134487 RCV000572506 |
290 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214420 RCV000459211 RCV001797643 rs199840380 CA014535 RCV000160755 |
291 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000213855 RCV000457374 RCV001293539 RCV000485598 rs146044717 CA059467 |
291 | R>H | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000235921 RCV001353603 rs374950566 RCV000164625 RCV000456980 RCV001554252 VAR_077663 CA014557 |
292 | P>L | Carcinoma of colon Breast carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in multiple polyposis cases; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs879254257 CA340134438 RCV000502805 |
294 | C>F | Carcinoma of colon [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349949 RCV002377487 rs1645027632 |
294 | C>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000236614 CA10584149 RCV000813716 rs879254257 RCV001186972 |
294 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000236217 RCV000564704 CA059524 rs757080586 RCV000526759 |
295 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001018522 rs937766053 CA21837059 RCV000692520 |
295 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1645025596 RCV001326357 |
297 | C>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340134395 RCV000812015 rs753883191 |
297 | C>W | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001209428 rs1645020416 |
298 | P>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340134389 rs1557470128 RCV000773876 |
298 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572690 RCV000690222 rs760889663 RCV001192786 RCV001557967 CA340134380 |
299 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA059559 RCV000686186 rs760889663 |
299 | V>M | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs863224700 RCV000568138 RCV000196565 CA336527 |
300 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001183964 rs1645023044 |
300 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752934398 RCV001218389 CA059569 |
300 | E>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798937 CA340134353 RCV000573304 rs1553127574 RCV000613114 RCV001755945 |
301 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA059578 RCV001284023 RCV000215490 RCV000704136 rs767805597 |
301 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000474320 rs730881834 RCV000573806 CA014594 RCV000160756 |
303 | C>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204112 CA014579 RCV000569860 RCV000168050 |
303 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549492 rs759822330 RCV001018992 CA340134322 |
304 | R>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210037 rs1645019518 RCV003163595 |
304 | R>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129507 RCV000467096 RCV000586807 RCV000484904 rs140156029 CA014631 |
304 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000640360 rs759822330 CA014609 RCV000165997 |
304 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011853 rs138089183 RCV000198445 RCV000131155 RCV000034682 RCV000212709 VAR_077664 |
306 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in multiple polyposis cases; unknown pathological significance; does not affect DNA glycosylase activity; slightly decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000640388 RCV000132221 rs587782727 CA014653 |
306 | R>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000212710 RCV000765175 rs149342980 RCV000590230 RCV000160757 CA014664 RCV000168393 |
308 | R>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000640385 CA059674 rs369973885 RCV002478801 RCV000218958 |
308 | R>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1570396086 RCV001019196 RCV001043729 CA340134252 RCV000985865 |
309 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002570449 RCV001251386 rs1644998333 |
310 | E>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014709 RCV000129103 rs587781338 RCV000478448 RCV000527702 |
311 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1557468846 RCV002369823 RCV002268248 CA340134207 RCV000686143 |
312 | E>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644997083 RCV001321642 RCV002447363 |
312 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340134198 RCV001019375 rs1423565685 |
313 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001214408 rs1644995145 |
314 | L>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189002 rs878854195 |
314 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001762522 RCV000575553 rs878854195 RCV000230499 CA10581806 |
314 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553127406 RCV001036167 |
315 | L>F | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1362124228 RCV000563921 CA340134170 RCV001237859 |
315 | L>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340134153 RCV002381834 RCV000816312 RCV001553751 rs1570395209 |
316 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340134141 RCV000575184 rs1553127397 RCV001858311 |
317 | S>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001551196 RCV000507210 RCV000705044 CA059784 rs765686051 RCV000219497 RCV000540135 CA340134139 RCV001551819 |
318 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776362892 RCV001387801 RCV000570829 |
319 | S>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781810 RCV000130081 CA014735 |
319 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_077665 RCV002369679 RCV000640378 rs587781810 CA340134122 |
319 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect DNA glycosylase activity; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000582752 CA014745 RCV001564902 RCV001327884 RCV000130715 RCV000410968 rs138833473 CA340134120 |
319 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs587781810 RCV001856869 RCV000482683 CA16617158 RCV002383928 |
319 | S>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000690384 rs558173961 CA340134104 |
321 | S>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3419273 CA014753 RCV000766300 RCV000552627 RCV000213585 rs558173961 RCV001844058 |
321 | S>L | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587780752 RCV000236292 CA10584148 RCV001344979 RCV000562155 |
325 | D>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000541072 rs147718169 RCV000164277 CA340134044 RCV000692755 RCV000604526 CA014781 |
326 | V>L | Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000205715 RCV000656910 rs147718169 RCV000129011 RCV000515294 CA014772 RCV000121592 |
326 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553127290 RCV000640356 CA340134024 RCV002386059 |
327 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777590 CA340134028 rs1557467923 |
327 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019863 CA340134035 RCV001051153 rs1570394120 |
327 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570393789 RCV000777421 |
328 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019895 rs1374712964 CA340134015 |
328 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003163709 RCV001221939 CA21836697 rs376830217 |
328 | E>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001307853 RCV000565466 rs1553127256 CA340134006 |
329 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001821677 RCV000575983 CA340133997 rs1553127251 |
330 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340133943 RCV001298855 rs1374768333 RCV002256731 |
330 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476756 CA011932 RCV000162642 RCV000780497 RCV000765174 rs587778537 |
331 | P>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340133932 RCV000532191 rs1553127049 |
331 | P>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820649 rs587778537 CA340133939 |
331 | P>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011921 RCV000121594 RCV000411238 RCV001576763 rs587778537 RCV000218057 |
331 | P>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1570388553 CA340133928 RCV000813366 RCV001009644 |
332 | N>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1400887684 CA340133919 RCV001016961 |
332 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000221955 rs765808018 CA060122 RCV001582745 RCV000461753 |
332 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553127030 RCV000563301 CA340133915 RCV001858194 |
333 | T>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465481 RCV002478802 CA10577720 rs876659790 RCV000222190 |
333 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000575765 RCV002528010 CA340133899 rs1553127007 |
334 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062564 CA011941 RCV000131501 rs587782438 |
334 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465024 RCV002498495 RCV000115753 CA011953 RCV000212713 rs587780082 |
335 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000034684 CA011883 RCV000299432 VAR_018874 RCV000144634 CA340133885 RCV001270291 RCV000584255 RCV000777602 RCV000079500 RCV000640420 RCV000131427 rs3219489 |
335 | Q>H | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs199742231 CA340133887 RCV000563039 |
335 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA011963 rs587780083 RCV001534582 RCV000771092 RCV000115754 RCV001081431 |
335 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077666 rs199742231 RCV001284313 RCV002055845 RCV000131793 CA011975 RCV001818328 |
335 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome found in a family with non-polyposis colorectal cancer-like syndrome; unknown pathological significance; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA340133881 rs1570387815 RCV000807634 |
336 | C>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000640393 rs1553126848 |
339 | C>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567719 rs1553126942 RCV001858312 CA340133832 |
340 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644929092 RCV001040175 |
341 | P>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702846 CA340133816 rs1377976805 |
342 | P>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1215979 CA012017 rs587778538 RCV001582593 RCV000121595 RCV000216934 RCV000123137 |
343 | S>L | Familial adenomatous polyposis 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000165499 rs587778538 RCV002492662 RCV000203957 RCV000759877 CA012006 |
343 | S>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000776276 CA340133789 rs1557465450 |
344 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA060196 RCV000236058 RCV000706460 RCV000572984 rs780178101 |
345 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060501324 CA16610113 RCV000476649 RCV001017073 |
346 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340133778 rs1557465355 RCV000777092 |
346 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA060205 rs772199096 RCV001188700 RCV002559155 |
347 | D>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1644922836 RCV001175732 |
348 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575550 rs1553126817 CA340133743 |
348 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA060230 RCV000575934 RCV000703092 RCV002268201 rs587781703 RCV000759878 |
349 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012047 RCV000129873 rs587781703 |
349 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002411877 RCV001237825 rs1644920219 |
353 | V>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190145 RCV000814133 rs966143902 CA21836372 |
353 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs754178539 RCV000562865 CA060255 RCV000235990 RCV000708793 |
354 | N>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012057 rs587781601 RCV000226144 RCV000129675 RCV000759879 |
355 | F>L | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000640358 RCV002420741 CA340133678 rs587781601 |
355 | F>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000562010 rs1553126738 CA340133674 RCV001043267 |
355 | F>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418497 CA16617157 rs1064793199 RCV001755722 |
355 | F>YT | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574563 RCV000481886 CA16610177 rs1060501323 RCV000474007 |
356 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.659e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587782773 RCV000132303 RCV002483271 CA012067 RCV001582608 RCV000411922 RCV000780503 |
356 | P>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000409401 rs1057517456 RCV001176292 |
357 | R>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA012077 RCV001850312 rs786202371 RCV000165143 |
357 | R>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017237 RCV000816437 CA340133630 rs1570385510 |
359 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232586 rs753207020 RCV002429993 RCV002249822 |
359 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223437 CA012086 RCV001753521 rs151316420 RCV000544801 RCV000144629 |
361 | R>C | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000123138 rs587780741 CA012099 RCV000131222 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001225195 RCV000584703 CA340133589 rs1553126588 RCV002298700 |
362 | K>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644913465 RCV001210228 RCV001189953 |
362 | K>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA915941263 RCV000805859 rs1570384879 |
362 | K>NS | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777052 RCV000808296 CA340133575 rs1557464361 |
363 | P>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557464361 RCV001175660 |
363 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA055070 RCV000705241 rs267598622 RCV000573082 |
363 | P>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210695 rs267598622 |
363 | P>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768130289 RCV000474499 |
364 | P>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000215104 rs876660262 CA10577716 RCV000557362 |
364 | P>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764941200 CA055078 RCV001862983 RCV001188699 |
364 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10577715 rs764941200 RCV000215090 |
364 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768130289 RCV000688652 RCV000165254 RCV000485059 RCV000582105 RCV001387744 |
365 | R>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000210110 rs869312771 |
365 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610176 RCV000465276 rs1060501340 |
365 | R>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001035348 CA340133560 RCV000772352 rs1060501340 |
365 | R>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1557463988 RCV000772317 CA340133547 |
366 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017362 rs61751011 CA340133512 |
368 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340133508 RCV000806301 rs587782261 RCV002440718 |
369 | S>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796187 CA340133505 rs763862261 |
369 | S>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000562681 RCV000605918 rs763862261 RCV000474861 RCV002506112 CA055147 |
369 | S>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782261 RCV000130984 RCV000466813 CA012134 |
369 | S>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000533553 CA340133501 rs1553126489 COSM302697 |
370 | A>S | Familial adenomatous polyposis 2 central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA011551 rs35352891 RCV000034668 RCV000160763 RCV000123139 RCV000417387 VAR_048262 |
370 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect DNA glycosylase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA340133487 RCV000568391 RCV000508017 rs1553126467 RCV000813411 |
371 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167685 RCV000491171 CA340133475 |
372 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570382822 RCV001009932 CA340133477 RCV001860619 |
372 | C>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570382822 RCV001009931 CA340133479 |
372 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340133472 rs1570382710 RCV001009938 |
373 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017407 CA340133470 rs1570382710 |
373 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546183 RCV001180794 rs1216396008 CA340133459 |
374 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000567971 rs1553126436 CA340133448 |
375 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232705 rs772113192 CA026526 RCV000579561 |
375 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002549306 CA055177 rs745910470 RCV001009972 |
376 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000216663 RCV000759153 rs876658699 CA10577714 |
377 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_077667 | 377 | P>T | FAP2; decreased function in DNA repair [UniProt] | Yes | UniProt |
|
RCV000198794 RCV003129781 RCV000121596 rs587778539 RCV000580244 CA012161 |
378 | G>W | Pilomatrixoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340133407 RCV000794623 rs1570381741 |
379 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570381679 CA340133402 RCV001017456 RCV002298829 |
379 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580410 rs1553126354 |
380 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343272 rs1553126383 CA340133379 RCV000640371 |
381 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000626290 RCV000121593 RCV000235584 RCV000164291 RCV002251990 RCV000196379 RCV000144632 rs587778536 |
382 | A>missing | Carcinoma of colon Familial colorectal cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180718 RCV002558964 rs876659232 |
382 | A>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456233 CA10577713 rs876659232 RCV000219830 RCV000679423 |
382 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876659232 RCV000550913 CA340133372 |
382 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000227674 CA10581804 rs878854183 |
383 | Q>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16610175 RCV000465018 rs1060501335 RCV000771347 VAR_077668 |
385 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in multiple polyposis cases; loss of DNA glycosylase activity; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1249171431 RCV002352181 CA340133334 RCV001766520 RCV000699299 |
385 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553126320 RCV000570979 CA340133320 |
386 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327507 RCV001216497 rs1644891144 RCV001587234 |
387 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001526027 RCV001320865 rs1644891144 |
387 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA012199 rs587783057 RCV000413062 RCV002221498 RCV000410310 RCV001572626 RCV003162600 RCV000144635 RCV000569738 |
388 | Q>* | Carcinoma of colon Breast carcinoma Familial colorectal cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000640394 CA21836182 rs984795084 RCV000576141 RCV001572504 |
388 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336597 RCV000799763 rs1570380627 CA340133270 |
390 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644888393 RCV001224521 RCV001187348 RCV002249770 |
391 | N>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749902808 RCV001010190 CA340133254 |
391 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553126299 RCV000563899 CA340133260 |
391 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000515320 RCV000121598 VAR_018875 RCV000005615 RCV001574076 RCV000493920 RCV000115748 RCV002051775 RCV001262769 RCV003137497 RCV000144637 RCV002251880 RCV001580144 RCV000501239 CA011561 RCV000477907 RCV000079501 RCV003137496 rs36053993 RCV000005614 |
393 | G>D | Carcinoma of colon Breast carcinoma Li-Fraumeni syndrome 2 Endometrial cancer Familial colorectal cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas FAP2; reduced DNA glycosylase activity; decreased DNA binding; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs36053993 CA340133193 RCV000799940 |
393 | G>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10577711 rs876658372 RCV002518254 RCV000213322 |
396 | A>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818789 CA21836079 rs876658372 RCV000561203 |
396 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644862174 RCV001040299 RCV001593205 |
397 | G>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610110 RCV000466459 rs1060501334 |
398 | L>M | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340133149 RCV000687481 rs1557461836 |
398 | L>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644859886 RCV001309790 |
399 | W>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660199 RCV001860632 CA340133116 RCV001010292 RCV000820500 CA340133119 |
400 | E>D | Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1644859056 RCV001054077 |
400 | E>K | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486695 RCV001010324 RCV000196963 rs863224501 |
402 | P>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131914 RCV000191934 rs529008617 RCV000144633 RCV000413961 CA012325 RCV002492514 VAR_077669 RCV000722033 |
402 | P>L | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome B lymphoblastic leukemia lymphoma, no ICD-O subtype FAP2; also found in multiple polyposis and colorectal cancer cases; loss of DNA glycosylase activity; loss of function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121908382 VAR_026049 RCV000005619 RCV001851673 CA011572 |
402 | P>S | Familial adenomatous polyposis 2 Gastric cancer GASC; sporadic; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553126007 RCV001181313 RCV000558914 |
402 | P>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821385 rs1570376147 |
403 | S>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644853541 RCV001525118 RCV001297193 |
404 | V>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219092 rs876660539 CA501134 RCV000547667 |
404 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1644852669 RCV001183437 |
405 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144636 RCV000235187 RCV000191935 RCV000115749 rs587780078 |
407 | E>missing | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528378 RCV000132124 CA012360 rs587782690 |
407 | E>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000477814 rs1553125914 |
408 | P>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059144 CA012370 RCV000129534 rs587781533 RCV000759154 |
409 | S>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340133008 RCV000693047 rs1557461219 |
409 | S>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1371096605 RCV001224101 CA340133003 |
410 | E>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000773657 rs766420907 RCV000465367 CA055585 |
411 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000005620 CA011596 rs121908383 VAR_026050 |
411 | Q>R | Gastric cancer GASC; sporadic; unknown pathological significance; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001010508 CA340132978 rs1557460984 RCV000686787 |
412 | L>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012396 RCV000164662 RCV000233366 RCV000482719 RCV000656911 rs773370513 COSM910159 |
414 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome endometrium Variant assessed as Somatic; 9.278e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002478383 CA012406 RCV000128948 RCV001582599 rs373803765 RCV000461545 |
414 | R>H | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773370513 RCV001010559 CA340132961 |
414 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000562672 CA350276 RCV000206217 rs864622671 |
415 | K>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130546 rs369299948 RCV000759155 RCV000408991 CA012438 |
416 | A>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000220875 rs587780744 CA339462 RCV000200655 RCV001574187 |
416 | A>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780744 RCV001175350 RCV000515285 RCV000123142 RCV000130485 RCV000590647 CA012424 |
416 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369299948 RCV000547884 CA340132946 RCV000564547 RCV000759156 |
416 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000115755 RCV000034669 RCV000212714 CA011605 RCV001353918 RCV000123143 VAR_077670 rs144079536 |
417 | L>M | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; also found in patient with multiple polyps and in a family with non-polyposis colorectal cancer-like syndrome; unknown pathological significance; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001010620 rs1570373782 CA340132943 |
417 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201302 RCV000563480 CA350056 RCV000205972 rs144079536 |
417 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000541171 rs1553125786 CA340132939 |
418 | L>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810512 CA340132935 rs1437789978 |
419 | Q>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001053298 rs1644839551 |
419 | Q>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667493 rs1553125766 |
420 | E>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1570373385 RCV001010634 |
420 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610132 RCV000462491 rs1060501321 |
420 | E>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340132926 rs1553125769 RCV000553798 |
420 | E>G | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553125762 RCV000580118 CA340132919 |
421 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340132910 RCV000567165 rs1553125748 |
422 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340132913 RCV001010691 rs1205029214 RCV000759157 RCV000821663 |
422 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA011618 RCV000144640 RCV000115756 RCV000119122 VAR_077671 RCV000034670 rs150792276 RCV000212715 COSM1502889 |
423 | R>C | lung Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; unknown pathological significance; does not affect function in DNA repair [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA055805 RCV000811237 RCV000562396 rs748700385 |
423 | R>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219054 CA055811 RCV000233765 rs748700385 |
423 | R>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000166088 CA012491 rs748700385 |
423 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001209863 rs150792276 |
423 | R>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640364 rs1553125677 |
424 | W>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610172 RCV000459274 RCV001010733 rs1060501325 |
424 | W>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338019 RCV000218813 RCV001555885 CA10577707 rs876658787 |
424 | W>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573432 CA16610131 RCV000464172 rs1060501326 RCV001555548 |
425 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340132891 RCV000806992 rs1570372277 |
426 | G>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010762 CA340132894 rs1570372319 |
426 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553125687 RCV001326031 RCV000564153 CA340132888 |
427 | P>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471700 RCV000115750 RCV000212716 CA011629 rs587780079 |
427 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340132886 RCV000759158 rs587780079 RCV001325882 |
427 | P>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553125687 RCV002379985 RCV001294618 |
427 | P>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771712 rs1280648051 RCV000542541 CA340132883 |
428 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000568119 rs1553125622 RCV001858376 |
430 | A>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557459395 RCV000690687 CA340132868 |
430 | A>G | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340132872 RCV000572833 rs1553125609 |
430 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039633 rs1557459395 |
430 | A>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340132862 RCV001010861 rs587780084 |
431 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA012538 rs587780084 RCV000235188 RCV000115757 RCV001818275 RCV000411291 |
431 | T>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010867 CA340132861 rs141432759 |
432 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA012561 RCV000587968 RCV000410796 RCV000129005 rs141432759 |
432 | H>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811983 RCV002287448 rs1570370748 CA340132852 RCV003166312 |
433 | L>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340132854 rs587782043 RCV000583340 |
433 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000412469 RCV000130506 rs587782043 RCV001580457 CA012569 |
433 | L>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782120 RCV001857463 RCV000131605 CA012600 |
434 | R>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001290443 COSM1667528 RCV000130651 RCV000234150 VAR_077673 rs587782120 RCV000587516 CA012591 |
434 | R>Q | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue does not affect function in DNA repair [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000121597 RCV000590752 CA012579 rs587778540 RCV000206561 RCV000214371 |
434 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010917 CA055954 rs761084380 |
435 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000484790 CA012610 RCV000123144 RCV001010938 rs587780745 |
436 | L>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1557458862 RCV001056269 |
437 | G>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557458862 CA340132832 RCV002386202 RCV000692434 RCV001563165 |
437 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1644819961 RCV001185852 |
437 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693940 rs1064795480 RCV000485027 |
438 | E>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011046 rs1570367534 CA340132804 |
440 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478398 RCV000701248 rs144309934 CA012632 RCV000130888 |
441 | H>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000584316 RCV001755974 RCV000640372 rs747232389 |
443 | F>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202133 RCV000659899 COSM3805399 RCV000164793 CA012643 |
445 | H>D | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs786202133 RCV001317921 |
445 | H>Y | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659414 RCV000217438 |
446 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481845 CA056195 RCV000567832 rs767996570 |
446 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1644794295 RCV001345522 |
447 | K>M | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313362 rs1644794654 |
447 | K>Q | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570640 rs1553125243 RCV001800753 RCV000550116 |
450 | Y>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774968843 RCV001218876 |
450 | Y>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553125235 RCV001359732 RCV000561909 CA340132738 |
450 | Y>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA056224 RCV001238277 rs769152217 RCV001177050 |
451 | Q>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000773656 RCV001869100 rs747614763 CA056232 |
451 | Q>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1399651154 CA340132718 RCV001011196 |
453 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000571537 CA340132717 rs1399651154 RCV000640374 |
453 | Y>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553125193 RCV000583648 CA340132710 |
454 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1570366181 RCV001011237 |
455 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237521 rs1644787002 |
456 | A>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340132694 rs1553125160 RCV000640390 |
457 | L>S | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011291 rs1570365762 CA340132686 |
458 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553125144 CA340132680 RCV000562773 |
459 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1434384304 RCV001806136 RCV001344026 RCV002258211 |
460 | Q>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340132663 rs1557457133 RCV000776962 |
461 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229106 RCV000235231 RCV000657068 rs375597447 RCV000761015 CA012659 RCV000130637 RCV001353621 |
462 | P>A | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10577703 RCV000218474 RCV000526469 rs876660697 |
462 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553125100 RCV000673895 |
463 | V>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001377116 RCV000561817 rs1553125075 |
465 | T>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644780902 RCV001191678 |
465 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313110 rs1644780151 |
465 | T>I | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779701238 RCV000197060 CA012695 RCV000166365 RCV000484811 |
466 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012704 RCV000132362 rs587782803 |
467 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012713 RCV000166002 RCV001762383 rs786202930 |
467 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622204 RCV000206030 CA350097 |
468 | P>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012731 RCV000166009 rs758262369 RCV000687139 RCV001284314 |
469 | G>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012721 rs758262369 RCV000165482 RCV001234267 |
469 | G>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553125016 RCV002477408 RCV000640375 CA340132623 |
469 | G>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA012750 VAR_077674 rs200844166 |
470 | A>D | FAP2; loss of function in DNA repair [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000130207 RCV000198237 RCV000656912 VAR_077675 rs192816572 CA012742 RCV002505107 RCV000212718 |
470 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome found in patient with multiple polyposis; unknown pathological significance; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000034671 COSM162695 rs200229669 RCV000206141 RCV000164389 RCV000780500 CA011638 RCV000144638 RCV000515389 |
471 | R>C | Carcinoma of colon NS Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002286709 CA012768 RCV000166871 rs764276907 RCV000640377 |
471 | R>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764276907 RCV000216337 RCV000816720 CA10577702 |
471 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011521 RCV001202006 RCV002255625 CA340132616 rs1570364144 |
472 | W>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000693427 rs756405535 CA340132604 |
473 | L>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553124948 CA340132602 RCV000539046 |
474 | T>A | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061295 CA056342 rs767747402 RCV002496855 RCV000482603 RCV000568211 |
474 | T>K | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001589047 VAR_077676 rs767747402 RCV000168051 CA012788 RCV000562525 |
474 | T>M | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1553124948 RCV002559741 RCV001178237 |
474 | T>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774607582 CA340132596 RCV000551676 RCV000777223 |
475 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs376790729 RCV000234544 RCV000571910 CA10581802 RCV000487112 |
476 | E>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000165664 rs376790729 RCV000480347 RCV000200800 CA012816 |
476 | E>K | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001554326 RCV001610395 RCV000123145 RCV000212719 RCV000115758 RCV000121599 RCV002498496 rs587778541 |
477 | E>missing | Breast carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000235388 RCV001353602 RCV000005618 rs121908381 RCV000222872 RCV002496271 CA011650 |
477 | E>* | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001216914 rs1644769384 |
477 | E>V | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064941 | 477 | E>del | FAP2; also found in a case of sporadic colorectal cancer; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair [UniProt] | Yes | UniProt |
|
rs1644768697 RCV001218737 |
479 | H>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486471 rs1553124893 RCV001851135 |
480 | T>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580166 CA340132546 rs1553124891 |
480 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242702 rs1570363119 RCV001806080 |
480 | T>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340132544 RCV000704544 rs1441591597 RCV000565617 |
481 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA21835704 rs151144295 RCV001294588 |
483 | V>L | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1644764817 RCV001040899 |
484 | S>C | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000005616 rs146331482 |
485 | T>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579411 CA340132508 RCV001319799 rs768222428 |
485 | T>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000583498 CA340132497 rs587782263 |
486 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000203814 RCV000781620 RCV000486816 rs587782263 CA012873 RCV000130986 VAR_077677 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; decreased function in DNA repair [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000806016 rs1570362086 CA340132479 |
487 | M>I | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM910158 RCV001011732 RCV001860681 rs1570362145 CA340132485 |
487 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs771655808 RCV001039857 CA056469 RCV001011723 |
487 | M>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219128 CA10577699 RCV001386175 rs876660774 |
488 | K>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1431036902 CA340132473 RCV000566147 RCV001322053 |
488 | K>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863224502 RCV001184572 RCV000198593 CA338021 |
489 | K>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878854185 CA10581801 RCV000229901 |
489 | K>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479402 RCV000215469 RCV002503805 VAR_077678 rs587782228 CA056613 RCV000204688 |
490 | V>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome FAP2; found also in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000197197 RCV000130919 rs587782228 CA012906 RCV000212720 |
490 | V>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs535102558 RCV001184571 RCV001295021 CA056625 |
491 | F>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001536926 CA340132406 RCV001011808 rs1394044603 |
491 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000129824 CA012915 rs587781668 RCV000551862 RCV001002654 |
492 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001353893 RCV000656913 RCV000236240 RCV000131561 rs144111588 RCV000231615 CA012925 |
492 | R>H | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144111588 RCV001236656 |
492 | R>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011831 CA340132392 rs1570346203 |
493 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129217 rs587781385 CA012933 RCV000226351 |
493 | V>M | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001180672 rs1644627944 |
494 | Y>WPI | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001558131 RCV000198891 RCV000132344 rs587782794 CA012950 |
495 | Q>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA012941 RCV000765173 RCV000212721 rs587780085 RCV000115760 RCV000640383 |
495 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553124088 RCV003114696 RCV000640348 RCV000566589 CA340132367 |
496 | G>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202994 rs1644624908 |
497 | Q>* | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388214 CA340132354 rs1557451662 RCV000688755 |
497 | Q>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001378375 RCV000760568 RCV003166017 RCV000777365 RCV002249461 CA21835283 rs932830392 |
498 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011898 CA915941256 rs1570345360 |
498 | Q>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011920 RCV002551752 rs1454804175 CA340132342 |
498 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001041776 rs1644621336 |
499 | P>T | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_018876 RCV002498570 RCV000195990 CA012960 RCV000585961 RCV000130413 RCV003137634 RCV000121600 rs3219494 |
500 | G>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Paragangliomas 2 decreased function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256704 RCV001218187 rs3219494 |
500 | G>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1475081112 RCV000771653 RCV001053493 CA340132324 |
500 | G>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340132317 rs1553124014 RCV000573978 RCV001858314 |
501 | T>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000767387 rs1557451154 |
501 | T>PTAQ | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229418 RCV000566512 RCV000587590 CA10581800 rs876659488 |
502 | C>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000463951 RCV000222673 CA10577698 rs876659488 |
502 | C>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000581640 CA16617151 RCV001052156 RCV000480779 rs1064793656 |
502 | C>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217768 rs1644383406 |
504 | G>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1161972119 RCV000640350 RCV000576123 CA340131960 |
505 | S>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001037621 RCV001186835 rs563885946 |
506 | K>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000589299 RCV001056140 RCV000566025 CA21833464 rs796921537 |
508 | S>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1644379783 RCV001237114 RCV001181266 |
509 | Q>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340131909 RCV000529379 rs1553123054 |
509 | Q>P | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002395726 RCV001327056 rs1553123054 |
509 | Q>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190380 rs1644378236 |
510 | V>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA056894 rs780209880 CA340131898 RCV000233321 RCV000572039 |
510 | V>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001759459 rs780209880 RCV000775686 CA340131899 |
510 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140118273 VAR_026051 RCV000132436 CA011660 RCV000034672 RCV001270289 RCV000119200 RCV000121601 |
512 | S>F | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome does not affect DNA glycosylase activity; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA012986 VAR_077679 rs587778542 RCV000457983 RCV000121602 RCV000131522 RCV000656914 |
513 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000584133 rs1553123034 CA340131863 |
513 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132196 RCV002288654 CA013004 rs587782716 |
514 | C>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465640 rs1553123017 |
515 | S>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227086 rs878854186 |
515 | S>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340131837 RCV000564579 RCV000801202 rs1380281188 |
515 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002402396 rs1064794411 RCV000530772 RCV000485724 |
516 | R>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000123146 RCV001731381 rs369410616 RCV000115761 CA013025 RCV000216371 |
516 | R>Q | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000506869 RCV000476705 RCV000167076 CA013015 RCV001589042 rs754364718 |
516 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1644370527 RCV001324040 |
517 | K>R | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644368705 RCV001350199 |
518 | K>N | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223744 RCV000581113 rs1553122949 CA340131776 |
519 | P>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165016 RCV000679426 CA013050 RCV001175587 RCV000229869 rs147480076 |
520 | R>C | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002298653 RCV000546791 CA056971 rs374655042 VAR_077680 RCV000566156 |
520 | R>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect DNA glycosylase activity; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1570312735 RCV001012208 CA340131749 RCV001860697 |
521 | M>I | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212722 CA011670 rs587780080 RCV000233496 CA340131758 RCV000115751 RCV001853927 RCV000584538 |
521 | M>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1570312788 RCV001860698 RCV001012237 CA340131754 |
521 | M>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000571963 RCV000167910 rs587780080 CA013059 RCV001560234 |
521 | M>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001012270 rs182537898 CA340131715 |
524 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002290434 CA340131702 RCV000794460 rs1570312447 |
525 | V>I | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1484876251 RCV000564334 |
526 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002490462 RCV000121603 RCV000144641 VAR_018877 RCV000115762 RCV000034673 RCV000986299 CA011679 rs3219496 |
526 | L>M | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000568685 CA340131674 rs1553122883 |
527 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013114 RCV002272150 rs147923905 RCV000166616 RCV000411946 |
527 | D>H | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000586335 RCV001731408 RCV000205460 RCV000219550 CA013123 rs147923905 |
527 | D>Y | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001347176 rs1557444203 RCV000776886 |
528 | N>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA057021 RCV001582750 RCV000476152 RCV000221052 rs768671057 |
529 | F>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001662780 RCV000708791 RCV000772419 rs1557444106 CA340131629 |
530 | F>L | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057039 rs3219497 RCV001344421 RCV001012380 |
531 | R>P | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000132024 VAR_018878 rs3219497 CA011691 RCV000034674 RCV000121604 RCV001353914 RCV001079890 RCV002496518 |
531 | R>Q | Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000115763 RCV002465517 rs144616312 RCV000475972 CA013149 RCV000220424 |
531 | R>W | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA057048 rs746159001 RCV001184569 |
533 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002393386 rs757615745 RCV001174791 |
534 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572296 RCV001858116 rs757615745 CA057069 |
534 | I>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000484560 RCV000583734 RCV001035516 rs151196169 VAR_077681 CA057086 |
536 | T>A | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome does not affect DNA glycosylase activity; does not affect function in DNA repair [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1570310709 RCV001067483 |
537 | D>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1439243449 RCV000584294 RCV001059206 CA340131573 |
537 | D>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1644350830 RCV001875858 RCV001177766 |
538 | A>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001284663 rs751053826 CA340131559 RCV000536864 |
538 | A>E | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs751053826 RCV001302152 |
538 | A>G | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751053826 RCV000164546 CA013181 RCV000474274 RCV000589735 |
538 | A>V | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553122813 RCV000580207 CA340131552 |
539 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001755946 RCV000563136 RCV001037770 CA340131538 rs1553122804 |
540 | S>N | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242375 rs1644347050 |
543 | S>missing | Familial adenomatous polyposis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340131507 RCV000562251 RCV001054744 rs1553122801 |
543 | S>G | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340131498 RCV000640365 rs1553122794 RCV001176621 |
543 | S>R | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780086 RCV000200142 RCV000572345 RCV000115764 |
544 | A>missing | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339073 RCV002402938 rs1553122784 |
544 | A>E | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189051 rs1644345586 RCV002298893 |
544 | A>T | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570271 CA340131490 rs1553122784 |
544 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001293835 rs1644340673 |
546 | Q>missing | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393102 CA16610106 RCV000463727 rs765990397 |
546 | Q>* | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA340131477 RCV001012516 rs765990397 |
546 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001324690 CA340131461 rs1308516608 RCV001012567 |
547 | Q>S | Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340137910 rs876659091 |
3 | P>S | No |
ClinGen gnomAD |
|
|
rs1570592292 CA340137900 |
4 | L>P | No |
ClinGen Ensembl |
|
|
CA089465 rs753502884 |
8 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA089494 rs767402084 |
12 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA057578 rs758220894 |
14 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs943979644 CA21840925 |
21 | A>P | No |
ClinGen Ensembl |
|
|
CA340137162 rs1553131499 RCV000588717 |
28 | K>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340137069 rs1432929984 |
40 | A>P | No |
ClinGen gnomAD |
|
|
rs141679570 CA340137028 |
43 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21840702 rs992146999 |
50 | A>V | No |
ClinGen Ensembl |
|
|
CA340136941 rs1476095647 |
51 | C>Y | No |
ClinGen gnomAD |
|
|
rs1372337348 CA340136781 |
58 | C>F | No |
ClinGen gnomAD |
|
|
CA340136775 rs1279830238 |
59 | P>A | No |
ClinGen gnomAD |
|
|
rs1286046243 CA340136729 |
63 | A>V | No |
ClinGen TOPMed |
|
|
rs1352377479 CA340136714 |
64 | G>A | No |
ClinGen TOPMed |
|
|
rs1409006256 CA340136708 |
65 | L>V | No |
ClinGen gnomAD |
|
|
rs1064794128 CA340136652 |
70 | E>* | No |
ClinGen TOPMed |
|
|
CA340136617 rs1557487179 |
72 | V>G | No |
ClinGen Ensembl |
|
|
CA057126 rs762806212 |
77 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762806212 CA340136559 |
77 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA057218 rs758900778 |
88 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1287695407 CA340136473 |
89 | E>V | No |
ClinGen gnomAD |
|
|
rs1140507 VAR_077643 |
100 | W>R | found in sporadic hepatocellular carcinoma; unknown pathological significance; loss of function in DNA repair [UniProt] | No |
UniProt dbSNP |
|
rs1570441666 CA340136369 |
107 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340136293 rs1570438557 |
117 | E>A | No |
ClinGen Ensembl |
|
|
rs1553129862 CA340136286 |
118 | M>V | No |
ClinGen Ensembl |
|
| VAR_077645 | 121 | D>G | likely benign variant; does not affect DNA glycosylase activity; does not affect function in DNA repair [UniProt] | No | UniProt |
|
CA340136266 rs1297793272 |
121 | D>H | No |
ClinGen gnomAD |
|
|
CA013462 rs587782041 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA057571 rs746112825 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759765956 CA057713 |
127 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1300812494 CA340136212 |
128 | W>L | No |
ClinGen TOPMed |
|
|
rs1305578549 CA340136192 |
132 | V>I | No |
ClinGen TOPMed |
|
|
CA057759 rs770153763 |
133 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs371317117 CA057793 |
138 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1454101217 CA340136143 |
139 | V>F | No |
ClinGen gnomAD |
|
|
rs1292255414 CA340135983 |
157 | Q>* | No |
ClinGen gnomAD |
|
|
rs1470545731 CA340135771 |
173 | G>S | No |
ClinGen gnomAD |
|
|
rs1427702684 CA340135735 |
175 | G>S | No |
ClinGen gnomAD |
|
|
CA340135613 rs1309501452 |
183 | L>P | No |
ClinGen gnomAD |
|
|
CA058376 rs757414131 |
194 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263648272 CA340135432 |
196 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA058442 rs749896967 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA340135388 rs1570417137 |
204 | T>P | No |
ClinGen Ensembl |
|
|
CA058450 rs764850896 |
205 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA21838549 rs982058566 |
211 | G>S | No |
ClinGen gnomAD |
|
|
rs745808534 CA058503 |
215 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1489217206 CA340135316 |
217 | A>S | No |
ClinGen gnomAD |
|
|
CA340135312 rs1214428547 |
218 | G>R | No |
ClinGen TOPMed |
|
|
rs1553128391 RCV000588354 CA340135292 |
221 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs147487160 CA058789 |
230 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190213874 CA340134832 |
246 | I>V | No |
ClinGen gnomAD |
|
|
rs752369438 CA058964 |
249 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs879254255 RCV000235821 CA10584150 |
268 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1427656678 CA340134663 |
272 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587778535 RCV000121591 CA014497 |
285 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_077662 | 287 | C>W | found in a case of sporadic lung cancer; unknown pathological significance; loss of function in DNA repair [UniProt] | No | UniProt |
| TCGA novel | 288 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340134507 rs1570401055 |
288 | T>P | No |
ClinGen Ensembl |
|
|
CA340134460 RCV000513232 rs1553127634 |
292 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs764260089 CA059545 |
298 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1064793522 CA16617159 RCV000483090 COSM426361 |
307 | Q>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs751875215 | 309 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570396026 CA340134244 |
309 | V>A | No |
ClinGen Ensembl |
|
|
CA059741 rs766638306 |
310 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA340134197 rs1423565685 |
313 | Q>* | No |
ClinGen TOPMed |
|
|
CA340134117 rs1381906248 |
320 | L>M | No |
ClinGen gnomAD |
|
|
CA21836751 rs867991237 |
324 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374712964 CA340134017 |
328 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349388248 CA340134021 |
328 | E>K | No |
ClinGen gnomAD |
|
|
CA340134011 rs1445730316 |
329 | C>S | No |
ClinGen TOPMed |
|
|
rs761738565 CA060167 |
343 | S>T | No |
ClinGen ExAC |
|
|
rs1570386733 CA340133771 |
346 | W>* | No |
ClinGen Ensembl |
|
|
CA055039 rs753207020 |
359 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA340133615 rs1394139323 |
360 | S>N | No |
ClinGen gnomAD |
|
|
rs761572866 CA055096 |
365 | R>G | No |
ClinGen ExAC |
|
|
CA340133535 rs1407012581 |
367 | E>* | No |
ClinGen TOPMed |
|
|
rs1284255412 CA340133529 |
367 | E>V | No |
ClinGen TOPMed |
|
|
rs776423413 CA055130 |
368 | S>N | No |
ClinGen ExAC |
|
|
CA340133429 rs886046366 |
376 | Q>H | No |
ClinGen Ensembl |
|
|
CA055195 rs774441289 RCV000781619 |
377 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 379 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000481734 CA16617156 rs1064795219 |
393 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA21836075 rs892204813 |
399 | W>* | No |
ClinGen Ensembl |
|
|
rs1452254809 CA340133122 |
400 | E>G | No |
ClinGen gnomAD |
|
|
CA340133105 rs1570376587 |
401 | F>V | No |
ClinGen Ensembl |
|
|
CA055478 rs559963863 |
403 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA055463 rs559963863 |
403 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA055687 rs730881835 |
413 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000160759 rs730881835 CA012385 |
413 | Q>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA340132956 rs373803765 |
414 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340132873 rs1276625381 |
429 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1225123656 CA340132865 |
431 | T>A | No |
ClinGen TOPMed |
|
|
rs762970030 CA340132856 |
432 | H>Q | No |
ClinGen ExAC gnomAD |
|
| VAR_077672 | 434 | R>P | found in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair [UniProt] | No | UniProt |
|
rs144309934 CA340132795 |
441 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1475410456 CA340132796 |
441 | H>Y | No |
ClinGen gnomAD |
|
|
rs760994413 CA056158 |
442 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760994413 CA340132787 |
442 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs775654698 CA056178 |
443 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs786202133 RCV001270024 |
445 | H>N | No |
ClinVar dbSNP |
|
|
CA056209 rs759942127 |
448 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340132706 rs1290761746 |
455 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 458 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340132667 rs1570365580 |
461 | T>P | No |
ClinGen Ensembl |
|
|
CA056255 rs780322075 |
464 | T>F | No |
ClinGen ExAC |
|
|
CA056322 rs764276907 |
471 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756405535 CA056332 |
473 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA056389 rs774607582 |
475 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340132554 rs1570363119 |
480 | T>P | No |
ClinGen Ensembl |
|
|
rs1570362767 CA340132517 |
484 | S>P | No |
ClinGen Ensembl |
|
|
CA056448 rs768222428 |
485 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1393979949 CA340132471 |
488 | K>N | No |
ClinGen gnomAD |
|
|
CA340132395 rs587781385 |
493 | V>L | No |
ClinGen TOPMed |
|
|
CA16617152 RCV000485940 rs1064793198 |
494 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876660675 CA338806 |
497 | Q>CW | No |
ClinGen Ensembl |
|
|
CA056698 rs774287215 |
499 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 499 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340132327 rs1475081112 |
500 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340132293 rs1426807005 |
503 | M>I | No |
ClinGen TOPMed |
|
|
RCV000985855 CA340132302 rs1570344605 |
503 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA056878 rs563885946 |
506 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140118273 CA340131869 |
512 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757781701 CA056926 |
514 | C>W | No |
ClinGen ExAC |
|
|
rs779256175 CA056916 |
514 | C>Y | No |
ClinGen ExAC |
|
|
CA340131832 rs1196038451 |
515 | S>N | No |
ClinGen gnomAD |
|
|
CA056962 rs751141974 |
518 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs751141974 CA056951 |
518 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs182537898 CA21833366 |
524 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs780031631 CA21833350 |
524 | Q>P | No |
ClinGen Ensembl |
|
|
CA340131676 rs147923905 |
527 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749775244 CA057077 |
535 | S>F | No |
ClinGen ExAC |
|
|
CA340131582 rs151196169 |
536 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21833301 rs930407042 |
541 | L>V | No |
ClinGen Ensembl |
|
|
rs1354297478 CA340131481 |
545 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA057114 rs765990397 |
546 | Q>E | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9UIF7
[MIM: 608456]: Familial adenomatous polyposis 2 (FAP2)
A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269|PubMed:11818965, ECO:0000269|PubMed:12606733, ECO:0000269|PubMed:12853198, ECO:0000269|PubMed:15366000, ECO:0000269|PubMed:16134147, ECO:0000269|PubMed:16287072, ECO:0000269|PubMed:16557584, ECO:0000269|PubMed:16941501, ECO:0000269|PubMed:18091433, ECO:0000269|PubMed:18515411, ECO:0000269|PubMed:19953527, ECO:0000269|PubMed:20418187, ECO:0000269|PubMed:20848659, ECO:0000269|PubMed:25820570, ECO:0000269|PubMed:26694661}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613659]: Gastric cancer (GASC)
A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:15273732, ECO:0000269|PubMed:25820570}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732). {ECO:0000269|PubMed:15273732}.
Without disease ID
- A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269|PubMed:11818965, ECO:0000269|PubMed:12606733, ECO:0000269|PubMed:12853198, ECO:0000269|PubMed:15366000, ECO:0000269|PubMed:16134147, ECO:0000269|PubMed:16287072, ECO:0000269|PubMed:16557584, ECO:0000269|PubMed:16941501, ECO:0000269|PubMed:18091433, ECO:0000269|PubMed:18515411, ECO:0000269|PubMed:19953527, ECO:0000269|PubMed:20418187, ECO:0000269|PubMed:20848659, ECO:0000269|PubMed:25820570, ECO:0000269|PubMed:26694661}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:15273732, ECO:0000269|PubMed:25820570}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732). {ECO:0000269|PubMed:15273732}.
7 regional properties for Q9UIF7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | NUDIX hydrolase domain | 364 - 495 | IPR000086 |
| conserved_site | Helix-hairpin-helix motif | 194 - 223 | IPR000445 |
| domain | HhH-GPD domain | 125 - 285 | IPR003265 |
| conserved_site | Endonuclease III-like, iron-sulphur cluster loop motif | 286 - 306 | IPR003651 |
| binding_site | Endonuclease III, iron-sulphur binding site | 287 - 303 | IPR004035 |
| conserved_site | Endonuclease III-like, conserved site-2 | 196 - 226 | IPR004036 |
| domain | Adenine DNA glycosylase, C-terminal | 365 - 494 | IPR029119 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.2.31 | Hydrolyzing N-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity | Catalysis of the removal of 8-oxo-7,8-dihydroguanine bases by cleaving the N-C1' glycosidic bond between the oxidized purine and the deoxyribose sugar. |
| adenine/guanine mispair binding | Binding to a double-stranded DNA region containing an A/G mispair. |
| DNA N-glycosylase activity | Catalysis of the removal of damaged bases by cleaving the N-C1' glycosidic bond between the target damaged DNA base and the deoxyribose sugar. The reaction releases a free base and leaves an apurinic/apyrimidinic (AP) site. |
| metal ion binding | Binding to a metal ion. |
| MutSalpha complex binding | Binding to a MutSalpha mismatch repair complex. |
| oxidized purine DNA binding | Binding to a DNA region containing an oxidized purine residue. |
| purine-specific mismatch base pair DNA N-glycosylase activity | Catalysis of the removal of purines present in mismatches, especially opposite oxidized purines, by cleaving the N-C1' glycosidic bond between the target damaged DNA base and the deoxyribose sugar. The reaction releases a free base and leaves an apurinic (AP) site. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| depurination | The disruption of the bond between the sugar in the backbone and the A or G base, causing the base to be removed and leaving a depurinated sugar. |
| 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. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| negative regulation of necroptotic process | Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F4JRF4 | MYH | Adenine DNA glycosylase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTPLVSRLSR | LWAIMRKPRA | AVGSGHRKQA | ASQEGRQKHA | KNNSQAKPSA | CDGMIAECPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APAGLARQPE | EVVLQASVSS | YHLFRDVAEV | TAFRGSLLSW | YDQEKRDLPW | RRRAEDEMDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRRAYAVWVS | EVMLQQTQVA | TVINYYTGWM | QKWPTLQDLA | SASLEEVNQL | WAGLGYYSRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRLQEGARKV | VEELGGHMPR | TAETLQQLLP | GVGRYTAGAI | ASIAFGQATG | VVDGNVARVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CRVRAIGADP | SSTLVSQQLW | GLAQQLVDPA | RPGDFNQAAM | ELGATVCTPQ | RPLCSQCPVE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLCRARQRVE | QEQLLASGSL | SGSPDVEECA | PNTGQCHLCL | PPSEPWDQTL | GVVNFPRKAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKPPREESSA | TCVLEQPGAL | GAQILLVQRP | NSGLLAGLWE | FPSVTWEPSE | QLQRKALLQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQRWAGPLPA | THLRHLGEVV | HTFSHIKLTY | QVYGLALEGQ | TPVTTVPPGA | RWLTQEEFHT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AAVSTAMKKV | FRVYQGQQPG | TCMGSKRSQV | SSPCSRKKPR | MGQQVLDNFF | RSHISTDAHS |
| LNSAAQ |