Q9BX63
PR
Gene name |
BRIP1 |
Protein name |
Fanconi anemia group J protein |
Names |
Protein FACJ, ATP-dependent RNA helicase BRIP1, BRCA1-associated C-terminal helicase 1, BRCA1-interacting protein C-terminal helicase 1, BRCA1-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83990 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
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
4 structures for Q9BX63
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1T15 | X-ray | 185 A | B | 988-995 | PDB |
| 1T29 | X-ray | 230 A | B | 985-998 | PDB |
| 3AL3 | X-ray | 215 A | B | 1129-1138 | PDB |
| AF-Q9BX63-F1 | Predicted | AlphaFoldDB |
2267 variants for Q9BX63
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000230644 rs876661246 RCV002450655 RCV001271068 RCV000221782 |
1 | M>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581042 RCV000571784 RCV000536251 rs764585550 |
1 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474167 rs764585550 RCV003153455 RCV000484413 RCV000411221 RCV000167101 RCV002283462 RCV000410570 |
1 | M>V | Fanconi anemia complementation group J Genetic non-acquired premature ovarian failure Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751194347 COSM1679987 RCV000562127 CA292281864 COSM1679988 RCV001362707 |
2 | S>F | Hereditary cancer-predisposing syndrome central_nervous_system Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002370167 RCV000808984 rs1603368490 |
3 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603368491 RCV001306224 |
3 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603368491 RCV001018622 CA400486088 |
3 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400486080 rs1386396228 RCV000636072 RCV002256428 |
4 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400486084 RCV000774961 rs45512093 |
4 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2078973570 RCV001349928 |
4 | M>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467101 RCV000216902 RCV003148687 RCV001354597 CA10580900 rs45512093 |
4 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555618738 RCV000583347 CA400486072 |
5 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319299 rs2078973424 |
5 | W>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215218 rs2078973498 |
5 | W>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603368484 RCV001013224 CA400486063 RCV001071716 |
6 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014003 RCV001860752 CA400486062 rs1246321339 |
7 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8691019 RCV003163490 rs752411477 RCV001194695 RCV001853547 RCV000216493 |
8 | Y>* | Gastric cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV002429737 rs2078973246 RCV001069461 |
9 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567878234 RCV000709568 RCV000990045 |
10 | I>missing | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203418 CA196556 RCV000166716 RCV001052914 RCV001753564 |
10 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001016908 RCV001209674 CA292281860 rs945685514 |
10 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400486027 RCV000568790 rs1555618733 |
12 | G>E | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555618727 RCV001021864 CA400486016 RCV000576446 |
14 | K>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618727 RCV001210217 |
14 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303577 rs2078972704 |
14 | K>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400486009 rs1567878177 RCV000698912 |
15 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214696 rs876660613 RCV000696347 |
16 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA163990 RCV000129220 rs587781387 |
16 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186814 rs2078972580 |
16 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808470 CA400485995 rs1603368465 |
17 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400485986 RCV000542420 RCV000564557 rs1555618724 |
18 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024311 RCV000696136 rs1567878148 |
19 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636140 CA10580898 rs876660880 RCV000217783 |
19 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804020 RCV001823167 CA400485964 rs1603368436 |
21 | A>D | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603368436 RCV002356887 RCV001207184 |
21 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603368431 RCV001025549 RCV001216804 CA400485955 |
22 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000772477 CA400485958 rs1567878117 |
22 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218322 rs876659008 RCV001051421 RCV003165562 CA10580896 |
22 | Y>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001025781 rs1292425366 RCV001237833 CA400485949 |
23 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001343443 rs1603368425 CA400485952 RCV001025665 |
23 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618716 RCV000571820 RCV000467954 |
24 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485943 RCV000694240 rs1567878087 |
24 | S>L | Variant assessed as Somatic; impact. Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001036465 rs2078971612 |
25 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485930 RCV000821901 rs1603368414 |
26 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001344944 rs1603368414 |
26 | L>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001390437 RCV000772710 RCV001267999 rs1555618709 RCV000663215 |
27 | A>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485926 RCV000566279 rs1555618704 |
27 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202674 RCV000165601 CA193792 RCV001064592 |
28 | M>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1330147176 RCV001591328 CA400485921 RCV000636122 RCV000561978 |
28 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001171456 rs1330147176 CA400485922 RCV000801846 RCV001127950 RCV000570506 |
28 | M>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs769585673 CA400485907 RCV001030547 RCV000570164 RCV000691171 CA8691014 RCV001194697 RCV000570903 |
29 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2078971287 RCV001294659 |
29 | M>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192043 rs2078971136 |
31 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580127 CA400485883 rs776386693 |
32 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002370072 RCV000793829 rs1603367753 |
33 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690994 rs772319724 RCV001054310 RCV000562728 |
33 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000163702 CA188988 rs786201468 |
34 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182086 RCV002289938 CA400485866 rs373104267 RCV000636074 |
35 | G>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000217605 rs876659168 CA10580894 |
35 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001186692 rs876659168 |
35 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344286 CA8690993 RCV002395754 rs373104267 RCV001176272 RCV002282525 |
35 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP ClinGen ESP ExAC TOPMed gnomAD |
|
rs774586397 RCV000636168 RCV001799639 CA8690992 RCV000215935 |
36 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060501767 RCV000460801 CA16615847 |
36 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222467 rs876659105 RCV000764136 CA10580893 |
37 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001233850 rs2078951497 |
38 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485848 RCV000636102 rs1555618429 RCV000572926 |
38 | S>N | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001307190 rs2078951392 |
38 | S>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485840 rs1555618428 RCV000569770 |
39 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078951315 RCV001320650 |
40 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010446 CA400485824 rs1253714284 |
41 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001203883 RCV000773114 rs770930270 CA8690991 |
41 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002424707 rs1555618423 CA400485815 RCV000704979 |
42 | C>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567877037 RCV001308934 |
42 | C>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485819 RCV003163154 RCV000691506 rs1567877037 |
42 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618423 CA400485817 RCV000561259 |
42 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486415 RCV001066099 rs1064794202 RCV001271070 RCV001010722 |
43 | L>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA163617 RCV000128992 RCV000482088 rs587781292 RCV000196974 RCV000662599 RCV001798433 |
45 | E>* | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300803 rs2078950725 |
45 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582447 rs587781292 RCV000222594 CA8690988 RCV000686973 |
45 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781292 RCV001248723 |
45 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485789 rs1567877002 RCV000703709 |
46 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000409748 CA117038 RCV000200979 RCV000587908 RCV000410864 RCV000005002 RCV001090025 rs28903098 RCV000778130 RCV000199377 RCV000116124 RCV000990044 VAR_020896 RCV003149563 |
47 | P>A | Breast cancer, early-onset Fanconi anemia complementation group J BRIP1-Related Disorders Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary BC; early onset; loss of ATPase and helicase activities [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065714 RCV000216538 rs28903098 RCV000160330 CA298854 |
47 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000657235 rs587782065 RCV001174940 RCV000130549 RCV000536840 |
48 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755317452 RCV001047452 RCV002393233 |
48 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755317452 RCV000216242 CA8690987 RCV000698138 RCV000584278 |
48 | T>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2078950409 RCV001294709 |
50 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485762 RCV001039314 rs1603367704 RCV001011962 |
51 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002460943 RCV000165219 RCV000459006 CA192802 rs786202417 |
53 | S>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078949879 RCV001204419 RCV002402586 |
54 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812965 rs1603367684 CA400485731 |
55 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012695 RCV001390436 rs1603367673 |
56 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001863001 rs1435822764 RCV001189622 CA400485718 |
57 | L>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs749920386 RCV001012911 CA400485713 |
58 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001235569 rs749920386 RCV001189235 |
58 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690983 rs749920386 RCV000475170 RCV000575988 |
58 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555618394 RCV001067478 |
60 | A>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485704 rs1555618394 RCV000636093 |
60 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078949344 RCV001183934 |
60 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485696 rs1567876917 RCV000705060 |
61 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202861 RCV000165899 CA194474 RCV001063465 |
62 | A>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202861 RCV000541366 RCV001013382 CA400485692 |
62 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078949086 RCV001234504 |
62 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485679 RCV001013553 rs1603367647 RCV001380153 |
63 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013464 RCV001574232 rs1603367649 CA400485684 |
63 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013482 rs1603367652 CA400485687 RCV001360769 |
63 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189791 RCV001863003 rs2078948660 |
65 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs575595017 CA8690981 RCV000636179 RCV000588194 RCV000568753 RCV000657727 |
65 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000579786 rs1555618377 CA400485667 |
65 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047491 rs2078948703 |
66 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013990 RCV000549682 rs1555618374 |
68 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153498 RCV000549099 CA10580891 RCV000586010 rs372581879 RCV000223223 |
69 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1555617925 RCV000636155 |
70 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580217 rs957072709 RCV000705430 CA292280624 |
70 | K>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs779629295 CA8690971 RCV001185472 |
71 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000217208 rs876659680 CA10580890 RCV001366040 |
71 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001216792 RCV001189798 rs2078910927 |
72 | A>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1357919929 RCV000564499 RCV000793926 RCV001260400 CA400485617 |
72 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000562576 RCV000473938 CA16615534 rs769573395 RCV002056711 |
76 | V>I | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1603366423 RCV001015100 CA400485584 |
77 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1292988272 RCV001856183 RCV000780064 RCV001015489 |
81 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804981 RCV000484917 rs1064794890 RCV002455925 |
82 | V>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221344 RCV001234900 rs876659594 CA10580889 |
82 | V>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000198791 RCV001762297 CA165726 RCV002271415 RCV000130117 RCV003149897 rs587781830 RCV000484594 RCV000662486 |
85 | S>L | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000582528 rs1555617900 CA400485521 |
86 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400485522 rs1555617900 RCV000544893 |
86 | C>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1323005329 CA400485519 RCV001016004 |
86 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001178841 rs1555617897 RCV001320179 |
87 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336891 rs863224800 RCV000197005 RCV001307947 |
87 | C>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802648 rs1555617897 RCV000564994 CA400485515 RCV001755930 |
87 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224800 CA339376 RCV000200543 |
87 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000225968 RCV002267893 RCV000160361 RCV000409620 RCV000412087 RCV000235146 rs730881648 |
87 | C>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078909444 RCV001181704 |
88 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781388 RCV000206278 RCV000129221 RCV001355848 RCV000587394 RCV002292377 |
88 | C>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555617890 CA400485507 RCV000636078 |
88 | C>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709566 rs1349422972 RCV000990041 CA400485497 |
89 | A>G | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000558834 CA400485501 rs1555617884 |
89 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501740 RCV000460420 CA16615839 |
90 | C>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603366351 CA400485478 RCV001016521 |
92 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690965 rs755930156 RCV001221264 |
92 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603366347 CA400485471 RCV001016613 |
93 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197173 RCV001342761 RCV000580165 CA337012 rs529201896 |
94 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001194699 RCV001876260 rs2078908690 |
96 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763009188 RCV000197800 RCV000412074 RCV000410961 RCV000480199 RCV000167103 |
97 | N>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184382 rs2078908581 |
97 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070310 rs766561078 RCV003160579 CA8690964 |
97 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV000707118 CA400485433 rs1555617859 |
98 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478530 RCV000206440 CA350472 RCV000567628 rs781121675 |
98 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201617644 RCV002440496 CA400485427 RCV000781182 RCV000698838 |
99 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1603366321 RCV001017672 CA400485430 |
99 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168226 RCV000663002 RCV000460063 rs587782427 RCV000131481 |
100 | M>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603366309 CA400485426 RCV001017805 |
100 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566912 rs1484234707 CA400485406 RCV000636126 |
102 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001858090 rs1555617834 RCV000561824 |
103 | G>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690962 RCV000636148 rs777068696 |
103 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580887 RCV000222811 rs876659500 |
104 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000571146 CA400485388 rs1555617829 |
105 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780247 RCV000780051 CA288582 RCV000212298 RCV000990040 RCV000205068 RCV000411175 RCV000409171 RCV000116153 |
106 | R>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000220020 rs143615668 RCV002225445 RCV000588637 RCV000663050 RCV001082225 RCV000131589 CA168409 |
106 | R>H | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000526478 rs587780247 CA10577565 RCV002321846 RCV000216303 |
106 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10580886 RCV001040448 rs876659809 RCV000221098 |
107 | H>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2078907400 RCV001233112 RCV001191004 |
107 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603366250 RCV001019261 |
108 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078907245 RCV001313761 |
109 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3712552 RCV000709565 rs587782734 RCV000213770 RCV002267884 RCV000687515 RCV000132232 CA169463 COSM3712551 RCV000990039 |
109 | N>S | upper_aerodigestive_tract Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000583153 RCV000636099 rs1423363607 |
110 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485357 RCV000581815 rs1555617818 |
110 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529399 CA400485360 RCV002323945 rs1555617821 |
110 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708688 rs201790351 CA400485349 |
111 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000222664 RCV000226236 rs201790351 RCV000160339 CA298881 |
111 | P>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs1200837936 CA400485352 RCV001019979 |
111 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001191692 rs1869938974 |
112 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636103 rs1555617813 CA400485345 |
112 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000535510 RCV002284407 RCV000571933 rs778480809 CA8690960 |
113 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001354529 RCV001858273 CA400485338 RCV000568848 rs1555617812 |
113 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219242 rs876658965 CA10580885 RCV002298532 |
114 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002451104 CA16615836 RCV000466721 rs876658965 |
114 | P>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001855997 RCV000771450 rs1555617800 CA400485328 |
115 | P>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000573255 rs1555617800 CA400485327 RCV001858089 |
115 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580884 RCV000781173 rs876659142 RCV000636083 RCV000219689 |
115 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753571 CA197460 rs748793974 RCV000167086 RCV000814712 |
116 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748793974 CA292280542 RCV000813549 RCV002336680 |
116 | S>F | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA198178 rs786203890 RCV000167391 |
117 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583641 RCV000229479 rs786202477 |
119 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000985639 rs889877039 RCV000539870 CA292280535 RCV000572830 RCV001262881 |
119 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002466455 CA298884 RCV000532063 RCV000160340 RCV000581551 rs730881637 |
120 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000699626 rs1567874485 |
121 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485298 RCV000777494 RCV000797303 rs1567874478 |
121 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705215 RCV001800562 RCV000216740 CA8690958 rs777630298 |
121 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555617788 RCV000552732 CA400485291 |
122 | S>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA298931 RCV000160363 RCV000410368 rs45617634 RCV000212299 RCV000205266 RCV000409265 |
124 | T>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002307422 CA192862 RCV000460048 RCV000165248 rs45617634 |
124 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs876660020 RCV000792628 CA10580882 RCV000216937 |
125 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021201 rs1170174893 RCV000792193 CA400484618 |
127 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000580227 RCV002529095 CA400485262 rs1311206718 |
127 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001021228 rs1603362725 |
128 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821971 CA400484608 rs1603362723 RCV001178492 |
128 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221096 rs876660080 |
129 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780831 RCV000123359 RCV000484573 RCV000213973 RCV001354166 CA332990 RCV001582596 |
129 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000583933 rs587780831 CA400484604 RCV002529229 |
129 | P>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002358486 rs1555616229 CA400484605 RCV000536304 |
129 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002469074 rs876658860 CA10580880 RCV000218899 RCV001047162 |
130 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2078781577 RCV001231551 RCV002375233 |
131 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078781626 RCV001211894 |
131 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262882 RCV001781466 RCV001800425 rs587781416 RCV000636112 RCV000129282 |
132 | T>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662866 CA298828 RCV000167936 RCV002298487 RCV000160320 rs730881623 RCV000212300 |
132 | T>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000565228 rs1555616206 |
133 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002369966 rs764256720 RCV000706075 CA400484582 |
133 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000570140 CA8690935 rs764256720 RCV000525072 |
133 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000221937 RCV000463838 RCV002466470 RCV002508202 rs876658195 CA10580879 |
134 | L>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001253394 rs2078781062 |
135 | A>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002323585 RCV001390984 rs1057520058 RCV000439831 |
137 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855157 RCV001194700 CA10583640 RCV000227127 RCV000576071 |
137 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003149813 RCV000212301 RCV001844041 CA288603 rs587780251 RCV000168359 RCV000662431 RCV000116160 |
138 | L>S | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA167676 RCV000119157 RCV000411415 RCV000990035 RCV000589911 RCV000412061 RCV001355891 RCV000131152 RCV001800405 rs202072866 |
139 | S>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688486 CA400484546 rs1567868653 |
139 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078780535 RCV001217635 |
140 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484531 rs1603362663 RCV001862203 RCV001022117 |
141 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484529 RCV001194701 RCV000566378 rs1555616188 |
142 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603362656 RCV001220734 |
143 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022219 CA400484518 RCV001862208 rs1603362656 RCV001593186 RCV001355351 |
143 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast Familial ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636153 CA400484512 RCV002331140 rs1555616182 |
144 | A>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355323 RCV000589730 RCV000408974 RCV000410510 rs116952709 RCV001084094 RCV000120404 RCV000131536 CA157716 COSM254568 |
144 | A>T | Carcinoma of colon Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome urinary_tract Familial cancer of breast Neoplasm of ovary [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001022403 RCV001056611 rs886038702 CA400484498 |
146 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567868598 RCV001188273 |
146 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050813 rs1555616176 RCV000656708 |
147 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310102 RCV000166730 rs786203429 |
147 | Y>missing | Hereditary cancer-predisposing syndrome Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657825 RCV000587107 RCV000473245 CA196900 RCV000166862 rs786203521 |
147 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244017 rs2078779429 |
147 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802169 CA400484490 rs1603362622 |
147 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990034 RCV001342570 CA400484496 rs1567868580 RCV000709563 |
147 | Y>H | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484485 rs1243511600 RCV001059333 |
148 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs770613242 RCV000809093 CA8690932 RCV001022529 |
149 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001185395 rs2078779238 |
149 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636081 rs762701532 CA400484474 |
150 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8690931 RCV001327917 rs762701532 RCV002329299 |
150 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000541078 CA400484464 rs1555616165 |
151 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484450 rs1567868486 RCV000771681 |
153 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772695469 RCV001022733 CA8690930 |
153 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001239721 rs1567868477 |
154 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695687 RCV001022811 rs1567868477 |
155 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130041 RCV000699984 CA165590 rs587781786 RCV000213568 |
155 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001296185 rs587781786 |
155 | Q>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555616153 RCV000583282 CA400484434 |
155 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002332487 RCV000702303 CA400484427 rs1567868429 |
156 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223551 CA10580875 rs876659373 |
156 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003142110 rs876659373 RCV001186352 CA400484429 RCV001347897 |
156 | V>L | Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001066857 rs2078778379 |
157 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603362578 CA400484411 RCV001022988 |
158 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336687 rs769364081 RCV000814823 CA400484414 |
158 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000533378 RCV000662737 RCV000561024 RCV000759711 rs1555616143 |
159 | K>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243823 rs2078778116 |
159 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001390592 RCV000545986 rs1555616150 |
160 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603362580 RCV001022987 RCV001067881 |
160 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1610572 CA400484398 RCV000562873 rs1330277587 RCV001867885 COSM1610571 RCV000679790 |
160 | R>I | liver Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs786203916 CA198280 RCV000167428 RCV000549162 RCV000759712 |
161 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484711 rs747604569 RCV000198978 RCV000166003 RCV003162707 RCV001781513 RCV000588178 CA194744 |
162 | R>* | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer Hereditary breast ovarian cancer syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs61757643 RCV000662676 RCV000131634 RCV001174711 RCV001559562 CA168512 RCV000231093 |
162 | R>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61757643 RCV002528007 RCV000562353 CA400484388 |
162 | R>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61757643 CA165098 RCV000129791 RCV000466396 RCV000424619 |
162 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811860 RCV000565081 CA16620544 rs1064795902 RCV000483934 |
163 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780024960 RCV000807668 CA8690927 RCV000580382 |
165 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000466657 rs1060501738 RCV001023382 CA16615545 |
167 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758218234 CA8690926 RCV000525279 RCV000561920 RCV001535796 RCV001764555 |
167 | T>I | BRIP1-Related Disorders Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001235611 rs758218234 |
167 | T>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292278245 RCV000702494 RCV000581000 rs748211848 |
168 | Q>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001181431 rs2078777082 |
168 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343241 CA400484345 RCV000636164 RCV001775935 rs876660937 |
169 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078776978 RCV001323908 |
169 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181463 RCV001858718 RCV000990032 rs1265322103 CA400483465 |
170 | I>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000806827 rs1603361718 RCV002336644 CA400483473 |
170 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501765 CA400483426 RCV000688451 |
172 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501765 CA16615543 RCV000464158 RCV000775734 |
172 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023591 rs1603361705 |
173 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410168 CA157719 RCV000990031 RCV000129172 RCV000512967 RCV000120405 RCV001082598 RCV001798383 VAR_020897 rs4988345 RCV000411236 RCV001355393 |
173 | R>C | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761432927 RCV000166292 RCV000709562 CA195486 RCV001798595 RCV000199555 |
173 | R>H | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000773693 RCV002534090 CA400483395 rs761432927 |
173 | R>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400483405 RCV001023668 rs4988345 |
173 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690913 RCV000233677 rs776248182 RCV002347915 |
174 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs546727788 RCV000562523 CA400483354 |
175 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2078748560 RCV001231921 |
176 | F>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235612 rs2078748443 |
177 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068815 rs2078748501 |
177 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219733 rs876658780 CA10580871 RCV000555022 RCV000478045 |
178 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876658780 CA400483268 RCV001862276 RCV001023948 |
178 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400483260 rs1555615784 RCV000575600 |
179 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534012 rs1567866837 RCV000772349 |
179 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804165 rs1603361670 CA400483240 |
180 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078748128 RCV001194702 RCV001241246 |
181 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475128 rs1060501778 |
183 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060504335 RCV001299431 |
183 | L>F | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166445 rs201047375 RCV000461927 CA195893 |
184 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000132540 RCV000168177 CA294540 RCV001358268 rs201047375 RCV001196849 RCV001192824 RCV000662870 RCV000212302 |
184 | D>Y | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690910 RCV000581355 rs745645356 RCV000471201 RCV001775807 |
185 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA298831 RCV000160321 rs730881624 RCV003162674 |
186 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211476 rs730881624 |
186 | K>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078747614 RCV001862910 RCV001185391 |
187 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659064 CA10580870 RCV002518300 RCV000223649 |
187 | V>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483082 RCV002343402 RCV000657683 rs1555615763 |
189 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869090 rs1555615763 CA400483079 RCV000772935 |
189 | S>L | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000458246 CA8690908 RCV001185470 rs756269682 |
190 | G>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000777071 rs1567866683 CA400483047 |
191 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660769 RCV000804472 RCV000217247 |
192 | T>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1429063662 RCV001858187 CA400483034 RCV000572207 RCV002291671 |
192 | T>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2078747261 RCV001349578 |
192 | T>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078747114 RCV001179941 |
193 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA157722 RCV001358435 RCV000120406 VAR_020898 RCV000116161 RCV000990030 RCV000412457 RCV001084461 RCV002225334 RCV001798360 RCV000410926 rs4988346 RCV000759713 |
193 | V>I | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555615743 RCV000572875 |
195 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482988 rs1555615749 RCV000579537 |
195 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000116162 RCV000410203 RCV000120407 rs4988347 VAR_020899 RCV001082551 CA157725 RCV001798361 RCV000411259 RCV000589840 RCV000990029 |
195 | L>P | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758851721 RCV000709561 RCV000990028 CA292277712 RCV000792364 RCV001175891 |
196 | N>K | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000586611 COSM249456 RCV003149814 RCV001030546 RCV001356416 RCV001082539 rs550707862 RCV001356235 RCV000116163 RCV000235147 CA288606 RCV001127949 |
196 | N>S | kidney Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Cancer of cervix Hereditary breast ovarian cancer syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001857766 CA10580867 RCV000219578 rs533184563 |
197 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA167679 rs533184563 RCV000235300 RCV000825289 RCV000198544 RCV001762306 RCV000131156 |
197 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001024659 RCV001215301 RCV001593190 CA8690904 rs530897769 |
197 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs533184563 RCV000216053 CA10580868 RCV000707127 |
197 | S>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400482937 rs144969738 RCV001024722 |
199 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001024758 rs1603361587 |
200 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482913 rs1555615732 RCV000539257 |
200 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078746295 RCV002558809 RCV001176245 |
200 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802368 rs1603361577 |
201 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615729 CA400482894 RCV000555283 |
201 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482884 rs778275257 RCV001071901 |
202 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001591084 CA16615523 RCV000469045 RCV000573114 rs778275257 |
202 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1603361570 RCV001805901 RCV000821577 |
203 | N>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078745913 RCV001214349 RCV002356918 |
203 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636121 rs761401027 RCV000220255 CA8690902 RCV002307457 |
204 | S>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001821252 RCV000458465 rs1060501731 RCV000566393 |
204 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317480 CA400482838 rs1603361561 RCV001024934 |
205 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024948 rs1603361558 |
206 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001546767 CA334612 RCV000662572 rs565458815 RCV000168335 RCV000506651 RCV000222015 |
206 | S>L | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001213973 rs2078745221 RCV002365960 |
209 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003144166 RCV000220042 RCV002288845 RCV001561778 rs748912293 RCV000464761 CA10580865 |
209 | K>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000214330 rs140097800 RCV000709560 RCV000213204 CA8690872 RCV000465031 RCV000990027 |
210 | P>H | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690873 rs140097800 RCV000773238 RCV000636068 RCV001544914 |
210 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001290444 RCV000590600 RCV000130394 rs150313156 RCV000662423 RCV000200420 CA166320 |
210 | P>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060501779 RCV000463454 |
211 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780026145 RCV000776532 RCV000759714 RCV000531438 CA8690871 |
211 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001057993 rs2078117905 |
211 | P>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779466229 RCV000657273 RCV000706262 RCV000215252 RCV003155934 |
212 | G>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555609387 RCV001230573 |
212 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555609387 CA400485240 RCV001221914 RCV000584189 |
212 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376760085 RCV000694124 CA400485232 |
213 | H>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376760085 RCV000205783 RCV000217577 CA195347 RCV000166239 RCV001194200 |
213 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2078117088 RCV001039518 |
214 | C>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636165 CA8690868 rs779409059 RCV000575253 |
214 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002267967 RCV000464882 CA10580864 rs12947398 RCV000216172 |
215 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA292287877 rs12947398 RCV001202036 |
215 | S>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1603347042 RCV001193527 RCV001025301 |
216 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078116990 RCV001059452 |
216 | R>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130737 CA167009 RCV000475279 rs587782156 |
217 | C>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001030545 rs587782156 |
217 | C>S | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295672 rs587782156 |
217 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754242563 CA8690866 RCV000461921 RCV000479866 RCV000580267 |
218 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555609353 RCV000687267 RCV000561587 |
219 | C>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410746 RCV000412358 RCV000228414 RCV000160331 RCV000214329 CA298857 rs730881630 |
219 | C>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA167421 RCV000130939 rs587782238 RCV001342620 |
219 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000574313 rs1555609351 RCV001347756 CA400485189 |
220 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001284463 CA8690865 rs777618772 RCV000563866 RCV000457055 |
221 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025475 rs373774920 CA400485181 |
221 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs777618772 RCV001297550 |
221 | T>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690864 RCV001025473 RCV000687033 rs373774920 |
221 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA400485178 rs1603346983 RCV001025497 RCV002236282 RCV001381445 |
222 | K>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201733 RCV000164174 CA190233 |
223 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203708 RCV000167128 RCV001284464 RCV001241245 CA197560 |
223 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs990737815 RCV000990026 CA292287866 RCV000709559 RCV000583227 RCV000636123 |
224 | G>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
TCGA novel rs1567838486 RCV000704993 CA400485166 RCV001025563 |
224 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs1567838461 CA400485157 RCV000774387 |
225 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204321 rs2078115717 RCV003163544 |
226 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025658 RCV001194704 RCV001210339 rs45459799 COSM1563714 RCV003160184 CA400485144 RCV002271613 COSM1563715 |
227 | Q>* | Fanconi anemia complementation group J large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000196200 RCV000564063 rs45459799 RCV002267935 RCV000411595 CA336231 RCV001762423 RCV000410552 RCV001546249 |
227 | Q>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025729 rs876659909 RCV001862341 CA400485131 |
228 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000166271 RCV000411446 RCV000515765 RCV001086889 CA195418 RCV001328338 RCV000386668 rs759031349 RCV000409005 |
230 | S>L | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA400485116 RCV000774985 rs1567838412 |
231 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078115132 RCV001213226 |
232 | T>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690859 rs762781085 RCV000689865 |
232 | T>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000581649 RCV000810321 RCV000781172 rs769535320 CA8690857 |
233 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA16615822 RCV000471622 RCV001025918 rs1060501780 |
234 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780834 CA332996 RCV000123364 RCV002362753 |
234 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400485099 rs587780834 RCV000686121 |
234 | K>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479679 rs876659379 RCV000221449 RCV000471922 |
235 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555609300 RCV000636145 CA400485087 |
236 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696777 RCV001805811 rs1567838306 CA400485082 |
236 | D>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555609298 RCV000568156 |
237 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400485075 RCV001303011 RCV000777338 rs1567838288 |
237 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1490001091 CA400485070 RCV000636118 |
238 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs745955726 RCV000567919 RCV001238205 COSM473152 COSM1135976 CA8690854 |
238 | T>I | kidney Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1490001091 CA400485069 RCV000532810 RCV000777190 |
238 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1567838246 RCV000990024 RCV000709558 |
240 | K>missing | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002370150 rs1350322711 RCV000807362 CA400485056 |
240 | K>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400485055 rs1350322711 RCV002375155 RCV001210088 |
240 | K>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194705 RCV001227266 RCV000561737 rs771542690 CA8690852 |
241 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001194706 RCV000545432 RCV000222563 rs876660647 CA10580861 |
242 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2078113517 RCV001219826 |
243 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484934 RCV003137638 RCV000473070 RCV000990023 CA165876 RCV000130174 RCV000709557 rs587781860 |
243 | I>T | Fanconi anemia complementation group J Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000818566 rs1603346861 RCV002381849 |
244 | P>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480350 RCV001225641 CA16620542 rs1064795594 RCV001026308 |
245 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524495 RCV001232376 rs376893571 |
246 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759716 RCV001125840 RCV000534123 RCV000580310 rs376893571 CA8690851 |
246 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA915950718 RCV001026299 RCV001052702 rs1603346857 |
247 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs2078112912 RCV001036069 RCV001759727 |
248 | F>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000708607 rs1567838174 |
250 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484989 rs1555609275 RCV000777113 |
250 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568986 RCV000550168 RCV001193529 rs1555609275 RCV001252983 CA400484990 |
250 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180445 RCV001875989 rs2078112756 |
250 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165345 RCV002225482 RCV000219928 RCV000662796 CA193144 RCV000206065 RCV001781512 rs752309409 |
251 | R>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000222495 rs780834054 COSM1589084 COSM982302 RCV000280552 CA8690849 RCV000692424 |
251 | R>H | Variant assessed as Somatic; 9.24e-05 impact. Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA400484986 RCV000558153 rs780834054 |
251 | R>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234031 rs1567838131 RCV000772461 CA400484984 |
252 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690782 rs1567838124 RCV001026565 CA400484979 |
252 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234807 rs2078112338 |
253 | H>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268468 RCV001302425 rs2078112284 RCV002393717 |
253 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224066 rs2078112240 |
254 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2078112057 RCV001255879 RCV002558716 |
254 | K>missing | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603346830 RCV001178723 |
255 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026653 rs1603346830 CA400484961 |
255 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_023700 rs2078111971 RCV001194716 |
255 | Q>H | Fanconi anemia complementation group J FANCJ [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000771405 rs1567838107 RCV000695058 CA400484958 |
255 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818568 RCV002397709 rs1603346813 |
257 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562513 rs1555609260 CA400484944 |
257 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484947 rs754515912 RCV001862380 RCV001026725 |
257 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555609257 RCV001044683 |
258 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484936 rs1198536492 RCV000581143 RCV001236149 RCV002293464 |
258 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567838078 CA400484939 RCV001524994 RCV000702738 |
258 | Q>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567838078 RCV001237146 |
258 | Q>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553186 rs1555609254 |
260 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160362 RCV000123365 RCV001125839 RCV002225394 RCV003149846 CA298928 rs138743097 RCV000586716 RCV002267867 |
260 | T>A | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001050296 RCV001180153 rs2078111313 |
261 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484916 rs1441703380 RCV000773361 RCV001056263 |
261 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876658283 RCV000221058 CA10580859 RCV000470570 |
262 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10580858 RCV000216224 rs876658312 |
262 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813780 RCV000663200 RCV001194717 CA16615865 rs1060501776 RCV000775746 RCV000467138 |
263 | L>F | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501776 CA400484909 RCV001860044 RCV000579965 |
263 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001026942 CA400484904 RCV000636169 rs28997569 |
264 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758360637 RCV001192825 RCV000572564 RCV000551521 CA8690847 |
264 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000679792 RCV000120409 RCV000411226 RCV000409223 CA157728 RCV001082519 RCV001269494 VAR_023701 RCV000116164 RCV000515771 rs28997569 RCV001798362 |
264 | R>W | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001305741 rs876659650 CA400484901 RCV001026977 |
265 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61754143 RCV001797800 CA400484896 RCV000808182 |
265 | R>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000223409 rs876659650 CA10580857 |
265 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003149815 CA288609 rs550031006 RCV000662521 RCV000448094 RCV000116165 RCV000198777 |
266 | T>M | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000580349 rs865910081 RCV000228879 CA10583639 COSM706568 COSM1147838 |
267 | A>T | lung Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA298860 rs730881631 RCV000160332 RCV001044858 |
267 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168563 RCV000131664 rs587782514 |
268 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212080 rs2078110465 |
268 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1412610651 RCV000575290 CA400484876 |
269 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2078110345 RCV001053062 |
269 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555609214 RCV000583047 |
270 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1401241698 RCV001348629 |
270 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484871 rs1401241698 RCV000636135 RCV001027159 |
270 | G>W | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130060 RCV001753514 RCV000804460 CA165634 rs587781797 |
273 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001225541 RCV001027247 CA400484855 rs587781797 |
273 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130310 CA166155 RCV000588437 RCV000527670 RCV002222404 RCV001125838 rs62620988 |
274 | T>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178206 rs2078109856 |
274 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411578 RCV001062010 rs587781425 |
275 | I>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164166 RCV000663199 RCV002288624 rs587781425 RCV000473432 RCV000485268 RCV000129307 |
275 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001210396 rs1567837876 TCGA novel |
278 | S>G | Variant assessed as Somatic; impact. Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1567837876 RCV000688523 CA400484824 |
278 | S>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000584712 rs759584091 CA8690845 RCV000636146 RCV000568517 RCV000478189 CA16620541 |
279 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400484807 rs1555609193 RCV000572797 |
280 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351777 rs2078109366 |
280 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777273 RCV000529304 rs1555609191 RCV000663150 |
281 | H>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002448664 rs1064795442 RCV000540266 CA400484803 |
281 | H>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799626 RCV001194718 CA400484800 rs1603346710 |
281 | H>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45624635 CA400484793 RCV000636116 |
282 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000116166 RCV000220423 CA288612 rs45624635 RCV000693086 |
282 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017810 CA400484794 rs1603346704 |
282 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636186 rs771096783 CA400484787 RCV002448974 |
283 | C>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400484789 RCV001017882 RCV001296797 rs1555609186 |
283 | C>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555609186 CA400484790 RCV000561442 |
283 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771096783 CA8690844 RCV001169899 RCV002445406 |
283 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs141055990 RCV001017977 CA400484775 RCV002550837 |
285 | H>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002225442 RCV000411077 RCV000412159 CA167682 RCV000781177 RCV001356435 rs141055990 RCV000220964 RCV000131157 RCV000231925 |
285 | H>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001299797 rs2078108519 |
286 | P>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690843 RCV001018010 rs770289817 RCV002298830 |
286 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400484760 rs1603346684 RCV001018095 RCV003117694 |
287 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442716 RCV000811467 CA400484766 rs1309409845 |
287 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1375475281 RCV001350685 CA400484753 |
288 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001385848 rs864622166 RCV000205570 |
289 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340905 rs2078108215 |
289 | V>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484752 rs1567837768 RCV001018144 RCV000695772 |
289 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484744 rs148556781 RCV001858191 RCV000575179 |
290 | G>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000567295 RCV000795649 rs148556781 CA292287764 |
290 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
COSM1184937 RCV000484748 RCV000823332 RCV000775425 CA8690840 COSM1184938 rs145601931 |
290 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1555609162 RCV000565681 RCV000805607 |
292 | F>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573698 CA8690839 RCV000636175 RCV000319358 rs746599076 |
293 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001018318 CA400484723 rs746599076 |
293 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660125 CA400484703 RCV000494920 |
296 | E>* | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400484702 RCV000690359 rs878855158 |
296 | E>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10580855 RCV000221644 rs876658249 COSM3820128 COSM3820127 RCV000229608 |
296 | E>D | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001284465 RCV000709556 CA10583638 RCV000226821 RCV001018433 rs878855158 |
296 | E>G | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876660125 TCGA novel RCV000802658 CA400484704 |
296 | E>K | Variant assessed as Somatic; impact. Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002281070 RCV000214417 RCV000636125 rs876660125 CA10580856 |
296 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001381186 RCV000232385 rs878855159 |
297 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202610 RCV000576435 RCV000168341 RCV000481880 RCV000165504 RCV001192943 |
297 | K>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218444 RCV001857764 rs876658528 CA10580854 |
297 | K>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798363 RCV000412293 rs28997570 RCV000120408 CA151532 RCV000116167 RCV001354244 RCV000990022 RCV001084039 RCV000410013 RCV000590718 |
297 | K>R | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000580683 rs28997570 RCV000636147 CA400484697 |
297 | K>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555609140 CA400484690 RCV000569676 |
298 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555609145 RCV000566586 CA400484692 |
298 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137852985 RCV000005003 VAR_020900 RCV000636166 RCV000582137 CA117041 |
299 | M>I | Breast cancer, early-onset Hereditary cancer-predisposing syndrome Familial cancer of breast BC; early onset; reduces helicase efficiency on longer substrates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002374982 RCV001067811 rs2078106961 |
299 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659490 RCV000223526 RCV001201525 |
301 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565742 rs750376292 RCV001858088 CA8690838 |
301 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001858190 RCV000564768 rs1555609130 CA400484655 |
303 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795230 CA400484648 rs1459305482 |
304 | G>E | Variant assessed as Somatic; impact. Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA400484651 RCV000698356 rs1567837588 |
304 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636154 rs1555609116 |
306 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571540 RCV001005049 rs1555609121 RCV000657409 |
306 | N>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484633 RCV001855913 RCV000759000 rs1567837564 |
306 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603343427 RCV001220738 |
307 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603343427 CA400484329 RCV000798374 |
307 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077994056 RCV001190017 |
307 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077993866 RCV001190004 |
308 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077993753 RCV001325405 |
309 | S>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299210 RCV002375356 rs1567832184 |
310 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780063 RCV001856182 rs1567832184 CA400484309 |
310 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662777 rs1555607792 RCV001385761 |
311 | Y>missing | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778138 RCV001019178 RCV001854600 RCV000120410 |
311 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA169453 RCV000540504 rs587782731 RCV000132228 RCV001284467 |
311 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587782731 RCV000553144 CA400484300 |
311 | Y>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001019170 CA400484302 RCV000799195 rs1603343412 |
311 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1436085018 CA400484282 RCV000701553 |
313 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001190538 rs2077993152 |
314 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs112076926 CA292286125 RCV001349110 |
314 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA292286123 rs867548960 RCV001019365 |
315 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603343393 RCV001019359 CA400484274 |
315 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484270 rs867548960 RCV000776366 |
315 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375197 rs2077992906 RCV001219652 |
318 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622236 RCV001019514 RCV001388770 RCV000204964 |
320 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636060 rs1555607779 CA400484227 |
321 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000120411 RCV001854601 rs587778139 CA157732 |
322 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774864 CA400484222 rs1567832102 |
322 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379893 RCV000636114 RCV002271633 RCV001234117 rs1555607775 CA400484211 |
323 | H>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs2077992477 RCV001038778 |
323 | H>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002271628 rs771630777 RCV001876261 RCV001194722 CA400484198 RCV002375122 |
325 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555607768 RCV001069088 |
326 | Q>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569079 rs1555607768 CA400484197 |
326 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607763 CA400484184 RCV000569097 |
328 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217638 rs876659057 RCV000823535 CA10580849 RCV002288867 |
328 | F>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555607759 RCV000582259 |
329 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077991700 RCV003163558 RCV001205614 |
329 | Q>* | Familial cancer of breast Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690820 RCV001207621 RCV001019829 rs778863018 |
329 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002267858 CA288615 RCV000116168 rs587780252 RCV000771331 RCV000636062 |
331 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484162 RCV000709555 RCV000794975 rs1380876424 RCV000575763 |
331 | M>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587782771 CA169594 RCV000132300 |
331 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000213448 RCV000219492 RCV000636095 rs876660521 CA10577564 |
332 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs535414791 RCV000561620 RCV000709554 CA298863 RCV000473511 RCV000160333 |
334 | A>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8690818 RCV000219711 RCV000536267 RCV000483340 rs535414791 RCV000780059 RCV001125837 |
334 | A>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000815867 rs1555607749 RCV000570826 RCV001280634 CA400484136 |
335 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA190545 rs786201808 RCV000164287 |
335 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226559 rs2077990704 RCV002322097 |
337 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400484122 rs1365389773 RCV000817915 RCV001016975 |
337 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000548040 RCV000567478 rs777653224 CA292286104 |
338 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000234635 RCV000563981 rs878855134 |
340 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194724 CA8690816 rs755796609 RCV000462189 RCV000563667 RCV001124866 RCV001584150 |
340 | L>F | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA337093 rs863224797 RCV000197282 RCV001299351 RCV002415857 |
341 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484092 RCV001017050 rs1603343284 RCV000820808 |
342 | S>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400484081 RCV000688160 rs1414803437 |
343 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1414803437 CA400484080 RCV001017061 |
343 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs751841684 RCV000580888 CA8690815 RCV000626975 RCV000560634 |
344 | G>E | Breast carcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555607734 RCV000701190 CA400484079 RCV000583905 |
344 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327528 rs2077989830 |
345 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410942 rs786201819 RCV000164304 RCV001798580 RCV000371659 CA190582 RCV000636110 RCV000409937 |
347 | L>P | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000131544 RCV000761010 CA157735 RCV000216316 rs149364097 RCV000023492 RCV000466014 RCV002271374 VAR_023702 RCV000120412 |
349 | A>P | Fanconi anemia complementation group J Diffuse intrinsic pontine glioma Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000213526 CA10580847 RCV001051721 rs149364097 RCV002466471 |
349 | A>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000431413 rs149364097 RCV000563742 RCV000706778 CA16607753 |
349 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001061221 rs1184306036 CA400484044 |
349 | A>V | Variant assessed as Somatic; 0.0 impact. Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001271069 rs2077989420 |
350 | C>missing | Breast and/or ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658173 RCV001054900 RCV001176689 |
350 | C>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483983 RCV000549174 rs876658173 RCV000214181 CA10580846 |
350 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762417690 CA8690813 RCV002402460 RCV001067064 |
352 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002307417 RCV000160334 RCV001535790 RCV000542718 CA298866 rs730881632 RCV000213947 |
352 | Y>H | BRIP1-Related Disorders Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796155 rs1603343235 RCV001017140 |
353 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567831780 CA400484023 RCV002397459 RCV000702256 |
353 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077989056 RCV001303856 |
353 | Y>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776939714 RCV001044759 CA8690812 RCV000214947 |
354 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881633 RCV003162675 RCV000160335 RCV001030543 CA298869 RCV000212307 RCV000636104 |
356 | R>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs730881633 CA400484005 RCV000709552 RCV000808903 RCV001190623 |
356 | R>G | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002256654 CA400484004 rs1289648562 RCV001045227 RCV001593213 |
356 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002411870 RCV001234612 COSM1385016 rs769081927 CA8690810 COSM1385017 |
357 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000697279 rs769081927 CA400484001 |
357 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567831649 RCV000684898 |
358 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881634 CA298872 RCV001300398 RCV000160336 RCV000565573 |
359 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587781639 RCV000129762 |
361 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688860 rs1060501737 CA400483976 |
361 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000472157 CA16615855 rs1060501737 |
361 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579755 CA400483964 rs1555607683 |
362 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139701369 RCV001009875 CA400483957 |
363 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690804 RCV001527038 RCV001017248 rs770306753 RCV001245894 |
364 | I>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077987772 RCV001058422 |
364 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356214 RCV000636067 COSM1246240 CA400483955 RCV000575286 COSM1246239 rs770306753 |
364 | I>V | oesophagus Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000569160 rs749251680 CA400483948 RCV001226561 RCV001764660 |
365 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001194725 rs749251680 CA8690803 RCV001217022 RCV001017258 |
365 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660219 RCV000217387 |
367 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773777 rs1567831581 CA400483930 |
367 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699015 CA400483935 rs1567831592 |
367 | C>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179978 rs1567831581 |
367 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436525 RCV000486758 CA16620538 rs1064793072 |
368 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607669 RCV003159789 CA400483925 RCV000550495 |
368 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000526617 rs786202218 RCV000409363 RCV000164934 RCV000411336 CA192106 |
369 | Y>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA163753 RCV000470192 RCV001561211 RCV000129066 rs587781325 |
369 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786202218 RCV001297819 |
369 | Y>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569917 RCV000586091 RCV001069949 rs777511615 RCV000662391 RCV001124865 CA8690802 |
370 | N>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690293 RCV001188622 rs1567831477 |
371 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501768 RCV001525372 RCV000473551 CA16615528 |
371 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587783377 RCV000130909 RCV000822648 |
372 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001770421 CA292286069 rs786202637 RCV000569842 RCV000538350 |
372 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001194726 RCV000165545 CA193651 RCV001030542 RCV001850319 rs786202637 |
372 | L>I | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001009886 rs1603343117 CA400483889 |
374 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572170 RCV000230469 CA10583635 rs878855135 |
375 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164893 rs786202192 CA192031 RCV000804829 |
375 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587780224 RCV000662763 RCV000497284 RCV001781449 RCV000116118 RCV000560652 |
376 | Q>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581764 CA292286062 RCV001783084 RCV001234227 rs1028347439 |
376 | Q>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1603343101 RCV001017416 |
376 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292286057 RCV000709551 RCV000990020 rs927733243 RCV001227699 |
377 | I>M | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803149 CA10580844 RCV000222191 rs876659688 |
377 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573737 CA400483865 RCV000698388 rs1555607637 |
378 | R>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607637 RCV001187802 |
378 | R>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400483859 RCV001349860 rs1555607635 RCV000574402 |
379 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483862 rs1603343094 RCV001009975 |
379 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077985927 RCV001214025 |
380 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575900 CA400483854 RCV001865733 rs1555607633 |
380 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580380 RCV000758984 CA8690800 rs569696977 RCV000822100 |
380 | S>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001371011 rs569696977 CA8690799 RCV000566062 |
380 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA16615507 RCV001017422 rs1060501741 RCV000464547 |
381 | M>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501741 RCV001224334 |
381 | M>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555607251 RCV000573050 CA400483837 |
381 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1452168198 CA400483829 RCV001307089 RCV001188578 |
382 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000817188 CA400483820 RCV002336692 rs1603342360 |
383 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471576 CA16615852 rs1060501750 |
384 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483812 RCV001372533 rs1603342354 RCV001017489 |
384 | N>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001762422 RCV000582933 RCV000199172 RCV000286010 rs748001678 CA338439 |
385 | L>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915950713 rs1603342339 RCV000808670 |
386 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA298875 rs730881635 RCV000505742 RCV001390434 RCV002354404 |
386 | K>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042373 RCV001010016 rs730881635 CA400483803 |
386 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527980 rs1555607230 RCV000565775 CA400483796 |
387 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690639 rs1304655615 CA400483786 |
388 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400483781 RCV001766645 rs1603342334 RCV000796759 RCV002325518 |
388 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485017 CA16620537 RCV001344442 rs587780825 |
389 | V>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000123345 rs587780825 RCV000521223 RCV000219844 CA332977 |
389 | V>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8690779 RCV001214135 rs781168634 |
390 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803483 RCV001182336 rs1427603031 CA400483766 |
391 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000195653 CA335818 RCV000662590 rs863224798 RCV000564729 |
391 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA400483757 RCV000636065 rs1555607200 |
393 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001354580 RCV001205835 rs2077952602 |
394 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552357 RCV002341295 CA8690777 rs778992385 |
395 | A>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2077952484 RCV001309000 |
395 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533050 CA400483738 rs778992385 RCV001010086 RCV001262879 |
395 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000985635 RCV000816776 RCV001194729 rs1603342316 RCV001010215 CA400483735 |
396 | H>D | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568743 RCV000483663 rs996493095 RCV000456902 CA16615514 RCV001354996 |
396 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1603342313 RCV001010225 RCV002223965 |
397 | N>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA166541 RCV003159103 RCV000457387 RCV000130499 rs587782039 |
397 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607182 CA400483724 RCV001010261 |
397 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA198460 rs786203967 RCV000167500 RCV000545385 |
398 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001055494 rs2077951770 |
399 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686333 rs1567829526 CA400483712 |
399 | E>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782816 RCV000409044 CA169741 RCV000228302 RCV002277278 RCV000132388 RCV000411467 |
399 | E>K | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764711572 RCV000196847 RCV000219685 CA336753 RCV000215891 RCV002465561 |
400 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010198 RCV000704388 rs756636362 CA8690776 |
401 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400483703 rs756636362 RCV001010197 |
401 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002345826 rs1340018456 CA400483701 RCV000808957 |
401 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000231997 RCV000212306 RCV000160360 rs730881647 |
402 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697413 rs876659282 RCV000223391 CA10580843 |
402 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202780 RCV000459631 CA194169 RCV000165766 RCV000483464 |
403 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000343344 RCV001192826 CA332980 rs369631413 RCV000123346 RCV000409639 RCV000411604 RCV000215569 |
403 | R>W | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Variant assessed as Somatic; 4.626e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003221989 rs1060501747 RCV000583531 RCV000466194 CA16615505 RCV002271502 |
406 | A>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524337 rs767872861 RCV001211135 CA8690775 |
406 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400483670 RCV000581075 RCV000533268 rs1555607156 |
407 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690774 RCV001556329 RCV000636136 RCV000220583 rs759835916 |
407 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001297785 rs2077950726 |
407 | S>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603342258 RCV001010396 RCV001390858 |
408 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130955 CA167452 rs587782247 |
409 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483652 RCV001010430 rs587782247 RCV001214758 |
409 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483651 RCV000804596 rs587782247 |
409 | S>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483644 rs1315040357 RCV000570082 |
410 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000165215 rs786202415 |
411 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575632 RCV000479248 rs1064795649 RCV000853338 |
412 | E>missing | Ovarian Cancers Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200575 RCV000481091 rs863224525 RCV000216061 |
413 | V>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545615 rs45576134 RCV001800747 CA8690773 RCV001010495 |
413 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000129878 RCV000411128 CA165277 RCV000701846 RCV000409609 RCV000781179 RCV000445256 rs368796923 |
414 | Q>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA400483618 RCV000572169 rs1257200897 RCV001853765 |
414 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001222884 RCV002379841 rs2077949826 |
416 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566468 CA8690772 RCV000467513 rs772570870 RCV001584151 |
416 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000116119 RCV000558154 RCV000780058 CA288508 rs587780225 RCV000571154 RCV003137632 |
416 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001236385 rs2077949494 |
417 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567829310 RCV000686161 CA400483597 |
418 | A>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150624408 RCV000772589 CA400483593 RCV001869085 |
419 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690771 RCV000463365 RCV002418374 rs748105919 |
419 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000411100 RCV000116120 RCV000587794 RCV003149812 rs150624408 RCV000206467 CA157738 RCV000415326 RCV000120413 RCV001262875 VAR_020901 RCV001356264 RCV000409993 |
419 | R>W | Breast carcinoma Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001202869 rs2077949084 |
420 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447315 RCV001307990 rs2077949016 |
421 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077949016 RCV001189624 |
421 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348981 rs2077948964 |
421 | E>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400483567 rs746778889 RCV000561716 |
423 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746778889 RCV002526826 RCV000572388 CA8690769 RCV000636091 |
423 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1028779004 RCV000574706 RCV001040896 CA292285674 |
424 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001836842 rs1354610577 RCV000811919 RCV001821697 RCV000580509 CA400483561 |
424 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1028779004 RCV001010651 CA400483563 |
424 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000636101 rs1555607086 CA400483550 RCV001182087 |
425 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483553 rs1555607090 RCV000579591 |
425 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698590 rs1567829230 CA400483556 |
425 | M>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3742355 rs1466605276 COSM3742356 RCV001187413 CA400483537 |
427 | N>S | liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs779237423 RCV001046201 |
428 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219872 RCV000559529 CA8690768 RCV001533933 rs779237423 |
428 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000570276 CA400483526 RCV002528004 rs1555607082 |
429 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186174 rs587781463 |
429 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000519909 CA164347 rs587781463 RCV000129398 RCV000535703 |
429 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000772533 RCV001039415 CA400483517 rs1567829158 |
430 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010778 RCV000547465 CA400483515 rs1555607077 |
430 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212503 RCV001194743 rs1567829158 RCV002379752 |
430 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1328630889 RCV000636130 CA400483510 |
431 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400483503 RCV000566907 rs1555607070 |
432 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483504 RCV000580556 rs1555607070 |
432 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077947183 RCV001214990 |
433 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379904 rs2077947326 RCV001236726 |
433 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206870 RCV002379785 rs1567829117 |
434 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400483480 RCV000685808 rs1567829117 |
434 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501758 RCV001186163 |
435 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204749 CA298878 RCV000212308 RCV000160338 rs730881636 |
435 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060501758 RCV001525373 RCV000475043 RCV000663159 CA16615851 |
435 | H>Y | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001010885 rs878855137 RCV000228671 CA10583634 |
437 | P>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555607056 RCV002380001 RCV001298424 |
438 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555607056 CA400483422 RCV000571942 |
438 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662793 RCV001787088 RCV000116121 rs587780226 RCV000699261 RCV000210150 RCV003162547 CA288511 |
439 | R>* | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast Familial ovarian cancer Gastric cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8690764 rs753214212 RCV000775423 COSM254570 COSM3932683 RCV000528173 |
439 | R>Q | Hereditary cancer-predisposing syndrome urinary_tract Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1458068665 CA400483388 RCV001316627 |
441 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001188945 RCV000457451 RCV000662896 rs1060501782 CA16615502 |
441 | V>M | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483374 rs1555607040 RCV001011038 |
442 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011020 rs1603342146 CA400483383 RCV000821608 |
442 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607040 RCV000567518 RCV001207578 CA400483379 |
442 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483360 rs1555607035 RCV000636064 RCV001011049 |
443 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691993 CA400483328 RCV000800003 CA400483331 rs200581792 RCV001183078 |
444 | S>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1603342140 CA400483334 RCV001000693 |
444 | S>T | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166825 RCV001047345 CA196810 rs786203496 RCV000709550 |
446 | I>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758985 RCV000573487 RCV002526825 CA400483304 rs1555607024 |
446 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379918 RCV001240402 rs2077945752 |
447 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010945 CA400483274 RCV001862772 rs1603342134 |
447 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000586228 rs775171520 RCV000449028 RCV000198848 CA338228 |
448 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400482350 rs775171520 RCV000688923 |
448 | W>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001186421 rs2077857156 |
450 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771861055 CA8690752 RCV001183951 RCV001174952 RCV001194745 RCV001061658 |
451 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001036455 rs2077857017 |
452 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881640 RCV001212378 |
452 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603340413 CA400482296 RCV000990018 |
452 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1153123 COSM982294 rs587780227 RCV000221894 RCV000116122 RCV002465521 RCV000524937 CA288514 |
453 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000663127 RCV002386137 CA400482282 rs1555605955 |
454 | E>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808231 rs769918040 CA400482281 |
454 | E>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs786202553 RCV000165414 RCV001359024 CA193333 |
454 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690751 RCV000809729 RCV001759452 rs769918040 RCV000771394 |
454 | E>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077856391 RCV001036997 |
455 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780826 RCV003117856 RCV001229542 |
455 | Y>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000123347 RCV001183950 rs587780826 CA332983 |
455 | Y>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400482268 rs1555605947 RCV000636156 |
456 | L>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002384472 RCV001344539 CA400482261 rs1369274888 |
457 | V>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000985636 CA400482265 rs748221377 RCV000571111 |
457 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000474977 RCV001325138 RCV001011201 CA8690750 RCV000679775 rs748221377 |
457 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000781186 CA288517 RCV000116123 RCV000663293 RCV000473135 RCV000212309 RCV001781450 rs587780228 |
458 | E>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000580245 rs1555605942 RCV001853869 CA400482257 |
458 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776784 CA400482259 rs587780228 |
458 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752052351 RCV001818542 CA8690748 RCV000694775 RCV000214628 |
459 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001178960 rs780310294 RCV000580858 RCV001798903 RCV001860042 CA8690747 RCV001363850 |
459 | R>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000657659 CA336051 RCV002381683 RCV000195948 rs587780875 |
461 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400482232 RCV001011272 rs1603340353 RCV001862775 |
462 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482225 rs1555605920 RCV000580303 RCV000822996 |
463 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000772234 rs1308550801 CA400482212 |
465 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001011317 CA400482208 rs1603340346 |
465 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055850 rs764979728 RCV000220101 CA8690745 |
467 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803051 CA400482190 RCV002388495 RCV002269314 rs1369814158 |
468 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2077854841 RCV001301579 |
469 | S>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603340339 CA400482174 RCV000822304 |
470 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482165 RCV001372997 RCV000563546 rs1555605906 |
471 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694857 rs1555605902 RCV000575093 CA400482158 |
472 | E>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482159 RCV000679776 RCV003163079 rs1555605902 |
472 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657382 rs768736851 RCV000576786 RCV001063357 RCV000775422 |
475 | L>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709548 RCV000990017 RCV002388352 RCV001194747 RCV001056183 RCV001030541 rs1567825164 CA400482126 |
476 | T>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1389470069 RCV001185142 |
477 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45501097 RCV001187748 |
478 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001366352 rs45501097 RCV001178090 CA400482115 |
478 | H>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2077853857 RCV001202392 |
478 | H>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45501097 RCV000116125 RCV002225333 RCV000514890 RCV000409336 RCV001084447 RCV000120388 RCV000410488 CA157673 |
478 | H>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8690743 RCV000481033 RCV001038079 rs761452695 RCV000575059 |
478 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2077853790 RCV001211705 |
479 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482096 RCV000554675 rs1555605887 |
480 | M>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1422020047 CA400482102 RCV001876134 RCV001184366 |
480 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA288520 RCV000530704 rs587780229 RCV000116126 RCV000220981 |
481 | G>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA294222 RCV000469846 RCV000130729 RCV000212311 RCV001124864 rs200062099 RCV000663131 RCV001030540 RCV000780054 |
481 | G>D | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780229 RCV001239565 |
481 | G>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390257 RCV001854561 RCV000116127 CA288523 rs200062099 |
481 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054190 rs2077853451 |
482 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759360709 RCV001321924 CA337401 RCV000197743 RCV000581460 |
482 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA288526 rs142744352 RCV000589605 RCV000662396 RCV000195858 RCV000218129 |
482 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000562447 CA400482081 rs1555605874 |
483 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176224 rs1555605874 RCV001875802 |
483 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077852941 RCV001224298 |
485 | A>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077853006 RCV001237237 |
485 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482063 RCV001011673 rs1603340296 RCV001233260 |
486 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603340281 RCV001011696 RCV001860679 |
488 | P>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1237035767 RCV002393448 RCV001194748 |
488 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1450320184 RCV000575739 CA400482052 RCV000542268 |
488 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000565670 rs1555605866 |
489 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002509226 RCV000462892 RCV000588035 rs587780230 CA288529 RCV001787919 RCV000116129 |
489 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693834 CA400482048 RCV000780060 RCV000563502 rs1555605855 |
489 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567824994 RCV000772554 CA400482036 RCV001869083 |
490 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321732 rs2077852333 |
490 | L>W | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570500 CA400482030 rs1555605852 RCV000690425 |
491 | Q>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555605852 RCV001295451 |
491 | Q>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077672955 RCV001315240 |
492 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555603626 RCV002388042 RCV000636120 CA400481768 |
493 | H>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580963 rs1555603628 RCV001365042 CA400481772 |
493 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555603622 RCV000564849 RCV002528120 |
495 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792006 CA400481743 rs1555603617 |
495 | S>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000554730 CA400481745 rs1555603617 RCV002395346 |
495 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481738 rs536081549 RCV000805439 RCV002388512 |
495 | S>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM1385014 CA400481461 RCV000584433 COSM1385015 RCV001294964 rs1555603612 |
496 | A>V | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs876658725 RCV000804157 CA400481460 |
497 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000696982 RCV002478789 RCV000222629 CA10580840 rs876658725 RCV001260297 |
497 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000569583 RCV001058846 CA400481444 rs1555603600 |
498 | L>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481447 RCV001011853 rs1603337024 RCV001051400 |
498 | L>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473198 CA16615495 rs1060501739 |
499 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002395728 RCV001327391 rs2077672083 |
500 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058756 RCV001819724 RCV001011906 CA8690719 rs746329838 |
500 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000587053 RCV001352446 CA400481382 rs1555603594 |
503 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1443429619 RCV001800765 RCV000798722 RCV000570177 CA400481373 |
503 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001268481 rs775735278 RCV000657179 RCV000544085 RCV001011957 RCV000464669 RCV000576749 RCV000221659 |
504 | I>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660478 CA10580839 RCV001350822 RCV000215869 |
504 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA292283073 rs755306832 RCV000562211 RCV001071902 |
504 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615817 RCV000457490 rs945661395 RCV000569483 |
505 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400481356 RCV001042847 rs1603337009 RCV001011979 |
505 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077671171 RCV001306678 |
506 | P>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077671245 RCV001048296 |
506 | P>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481332 RCV000575490 RCV000636181 rs1555603569 |
507 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481313 rs1567817029 RCV001337571 RCV000774897 |
508 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035347 rs2077671034 |
508 | Y>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567604 CA400481301 rs1555603567 RCV001212506 |
509 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481296 RCV000808502 rs1603336991 |
510 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481278 RCV000571712 rs1555603565 RCV001042064 |
511 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811244 CA400481264 rs1603336980 |
512 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567816997 RCV000695002 |
513 | A>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793812 RCV000484034 RCV002526540 |
515 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481218 RCV000691432 RCV001012042 rs1567816977 |
515 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268473 RCV001345069 rs2077670264 |
516 | V>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001546297 RCV001348473 RCV000777057 CA400481212 rs1567816972 |
516 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202169 RCV000164858 RCV001850306 CA191937 |
517 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA400481199 RCV002397598 rs1603336970 RCV000798223 |
517 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343230 rs1555603541 RCV000561182 CA400481186 |
518 | V>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201701 RCV001356649 RCV000475560 CA190066 RCV000164112 RCV000439785 |
518 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481175 rs1555603538 RCV000581012 |
519 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575364 rs1555603538 CA400481173 RCV000636151 |
519 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012100 rs1228125213 |
519 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245687 rs2077669665 |
520 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796962 CA400481161 rs757629526 RCV001012158 |
520 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001012185 rs730881638 CA298887 RCV000160341 |
520 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244601 RCV000775100 CA292283062 rs913184257 |
521 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV002402605 rs2077669449 RCV001207759 |
521 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481133 rs1555603525 RCV000570283 |
522 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319669 rs2077669404 |
522 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481129 RCV000562602 RCV001226471 rs1555603510 |
523 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477399 RCV000663134 rs1060501764 CA16615813 |
523 | T>I | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481118 RCV001012231 rs1603336940 |
524 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662858 RCV000479784 RCV000636167 rs1064795196 RCV001183706 |
524 | Q>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615843 rs587781726 RCV000472237 |
524 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000795285 RCV000129913 CA165345 rs587781726 |
524 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2077668951 RCV001219045 |
526 | M>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481066 RCV001012257 rs1603336934 RCV002549363 |
527 | L>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858188 CA8690713 rs748962730 RCV000568422 |
528 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000229619 CA157676 rs138784299 RCV000662859 RCV000120389 RCV000562551 |
529 | G>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10580837 RCV000560732 RCV000217753 rs876659321 |
529 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481034 RCV001191730 RCV000815587 rs1603336923 |
530 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232484 rs878855139 CA10583632 |
531 | F>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482354 rs4988350 RCV000662403 RCV000573125 CA350456 RCV000206417 VAR_020902 |
531 | F>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002404775 RCV000636080 rs1339743866 |
532 | M>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571401 RCV001222581 rs1179705368 CA400481010 |
532 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876658383 RCV000214562 RCV000532257 RCV000780069 CA10580835 RCV001194750 |
532 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555603483 RCV000574873 CA400480992 |
533 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474112 RCV000580669 CA16615491 rs1060501752 |
536 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153836 CA400480937 RCV000777287 rs1567816751 |
537 | L>H | Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001346547 rs1567816751 |
537 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622208 CA350079 RCV000205999 |
537 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077667669 RCV001053297 |
538 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860708 RCV001012422 CA400480933 rs1603336907 |
538 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130314 RCV000226321 rs199616792 RCV000662628 CA166163 RCV001800431 RCV000709547 RCV000990015 |
539 | R>K | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000816751 rs1603336897 CA400480903 |
540 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465039 RCV000662789 CA168446 RCV000781166 RCV000222534 RCV000131607 RCV002288649 rs4988349 VAR_020903 |
540 | Q>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603336895 RCV000792944 |
541 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579518 rs1555603461 |
542 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480865 rs1193170320 RCV000568937 |
542 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001806043 RCV001205772 rs2077612367 |
546 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662956 RCV000269215 rs754414731 RCV000326593 RCV000537150 RCV002254687 RCV000165883 RCV000758989 CA194431 |
547 | D>E | Fanconi anemia complementation group J Fanconi anemia Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077612324 RCV001294942 |
547 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230012 CA168159 rs587782405 RCV000131440 |
548 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305467 rs587782405 |
548 | Y>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167467 RCV000130967 rs587782254 RCV000636069 RCV000479209 |
550 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1603334858 RCV001012568 CA400480544 |
550 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858087 RCV000567527 rs1555602638 |
551 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002267937 RCV000205457 RCV000679777 RCV000663320 CA349621 RCV000217074 rs375246789 |
551 | A>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8690692 rs766302517 RCV001053258 |
551 | A>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000582348 rs766302517 CA400480542 RCV001035683 |
551 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1153122 RCV000636090 COSM982288 RCV001122087 rs375246789 RCV000481084 RCV000130386 CA166303 |
551 | A>V | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000132461 rs369340666 RCV000215881 RCV000662589 RCV000204568 CA169885 |
552 | I>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA400480538 RCV001350684 rs1603334819 RCV001012603 |
552 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860043 rs876660693 RCV000580779 CA400480526 |
553 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702705 RCV003165885 rs749762964 |
554 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012636 rs1603334758 |
554 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777217004 RCV001869076 RCV000771280 CA400480524 |
554 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001778812 RCV000218328 CA8690691 RCV000462805 rs777217004 RCV000590587 |
554 | Q>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000461047 CA16615489 rs1060501749 |
554 | Q>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077611229 RCV001179993 RCV001236655 |
555 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012625 RCV001051923 rs752797989 CA8690689 |
556 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001067520 rs2077611091 |
557 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480501 RCV002402564 rs1375911072 RCV002473215 RCV001199256 RCV001321609 |
557 | S>F | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs767648925 CA8690688 RCV000636163 RCV001012667 |
558 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001177031 rs876658266 |
559 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218161 rs876658266 RCV000232870 CA10580833 |
559 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000588788 rs1555602592 RCV001367564 CA400480482 |
560 | N>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077610620 RCV002402611 RCV001208549 |
561 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1209325148 RCV001203738 CA400480472 RCV000572976 |
561 | Q>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000822412 RCV001824893 rs1603334713 CA400480476 |
561 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000456914 RCV000160342 RCV000663029 RCV000212314 rs45533636 CA298890 |
562 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs577768294 CA400480462 RCV001012711 |
563 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001012736 rs1603334654 CA400480460 |
563 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002222450 CA8690687 RCV002291600 RCV000227822 rs577768294 RCV000218250 |
563 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA400480461 rs577768294 RCV000820640 |
563 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000583577 RCV002267971 RCV000220814 rs780590493 RCV000701766 |
563 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292282224 RCV000686260 rs755635967 RCV000581220 |
564 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400480456 RCV000562168 rs1555602569 |
564 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045191 rs1603334619 |
565 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001776040 CA400480447 RCV003169013 rs1603334619 RCV000820818 |
565 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077609777 RCV002400220 RCV001037147 |
566 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480444 rs1289102059 RCV001062238 RCV002402441 |
566 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400480441 RCV000808676 rs1603334596 RCV002406813 |
566 | D>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232677 RCV000572341 RCV000483400 rs878855140 CA10583631 |
567 | K>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570267 RCV000663330 RCV000477976 RCV000416663 RCV000636137 rs1057519365 |
568 | N>missing | Carcinoma of colon Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221496 RCV002291598 RCV000636144 CA8690685 rs763458922 |
568 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000522878 rs1555602554 RCV002404343 RCV000662473 |
568 | N>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208125 rs373228183 CA8690684 |
569 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA400480423 rs1259933364 RCV000636082 |
569 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs373228183 RCV001053078 RCV002466614 RCV002400307 |
569 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001875917 RCV001179001 rs2077609211 |
570 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208230 RCV001192194 rs2077609103 |
570 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549379 RCV001012803 rs754566378 RCV001776078 |
571 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567813643 CA400480402 RCV000773588 |
572 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001355454 RCV000811857 rs1603334516 RCV002397671 CA400480399 |
572 | V>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA193483 RCV000485697 rs786202587 RCV000165469 RCV000533781 |
573 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000230474 RCV000484019 CA8690681 RCV000562779 rs377302300 |
574 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000776859 CA400480391 rs377302300 |
574 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002399486 RCV000120390 rs587778131 |
576 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603334464 CA400480373 RCV001012873 RCV001776079 |
577 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705294 rs1411869768 CA400480369 RCV002406645 |
577 | K>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001211893 rs1355330975 RCV001178225 |
578 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192970 RCV000212315 CA288532 RCV000116130 RCV000410174 RCV000412043 rs28997571 RCV000196018 |
579 | R>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768224857 RCV000636129 RCV000775419 CA8690680 |
579 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768224857 CA10580832 RCV000221005 |
579 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400480358 RCV002406555 RCV000690661 rs28997571 |
579 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001873241 rs1356014648 RCV001012932 CA400480352 |
580 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012933 rs1356014648 CA400480351 RCV000551078 |
580 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000568917 RCV000785424 rs780020495 RCV000657756 RCV000804787 RCV000503203 CA8690678 |
581 | R>* | Breast cancer, early-onset Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000120392 RCV001798381 rs587778133 CA157682 RCV000527065 RCV000221625 RCV001569960 |
581 | R>Q | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10580831 rs876658547 RCV000222420 RCV000535277 RCV001753660 |
583 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000219324 CA8690675 RCV000589026 RCV001002260 rs756946068 RCV000636131 |
585 | A>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001013019 rs1603334346 |
585 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555602479 CA658658671 RCV000563409 |
585 | A>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400480326 RCV001013018 RCV001212966 rs1603334364 |
585 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482369 RCV000218989 CA10580830 rs876660519 RCV000473133 RCV000662848 |
587 | H>D | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460900 rs876660646 RCV000662901 RCV001194199 RCV000216569 RCV000219246 CA10577562 |
587 | H>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660519 RCV001058192 |
587 | H>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001187524 rs876660646 |
587 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527441 CA10580829 rs876660355 RCV000220033 |
588 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567813355 RCV000774359 CA400480298 |
590 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876661057 CA10577561 RCV000565787 RCV000234466 RCV000217380 |
591 | F>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1057523507 RCV001183084 |
591 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077606796 RCV001194762 RCV003163492 |
592 | W>missing | Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047429 RCV000215063 CA8690674 RCV001013105 rs753023295 |
592 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs753023295 RCV001067807 |
592 | W>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780231 RCV000380078 RCV000116131 CA288535 RCV001041862 RCV001177573 |
592 | W>G | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406545 rs1567813260 CA400480266 RCV000687730 |
594 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA164705 rs587781559 RCV000457619 RCV000129578 |
594 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066364 CA10580828 rs876658256 RCV000218008 |
594 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759727507 RCV001177572 CA8690673 |
595 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs864622155 RCV000205584 RCV000564548 RCV001368866 CA349717 |
596 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615812 RCV000475483 rs751667661 |
597 | A>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2077606219 RCV001177533 |
597 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567813223 RCV000696107 |
598 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580827 RCV000222289 rs876658510 |
598 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690644 RCV001013216 COSM254569 COSM1756947 rs745367580 RCV000226896 |
600 | F>L | Hereditary cancer-predisposing syndrome urinary_tract Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002406878 CA8690643 COSM254569 COSM1756947 rs375625993 RCV000819403 |
600 | F>L | Hereditary cancer-predisposing syndrome urinary_tract Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1317946589 CA400480222 RCV001013233 RCV002533824 RCV000758990 |
601 | S>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400480214 RCV000580936 rs1555602221 RCV001344519 |
602 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400480206 RCV000796590 rs1555602215 RCV000568486 |
603 | I>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555602215 RCV000780066 RCV000570378 RCV001217477 CA400480205 |
603 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566521 CA400480187 rs1386348664 |
606 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001013272 RCV002282334 rs1567812636 CA400480169 RCV000697689 |
608 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581727 RCV003144328 RCV000590700 RCV000528910 CA292281934 rs189758577 |
609 | T>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000685488 rs1567812616 |
611 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662932 RCV000165836 RCV000480949 rs777741543 CA194306 RCV000233742 |
611 | V>I | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077597358 RCV001318713 |
612 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA349159 RCV002247630 RCV000569552 RCV001753609 rs864622345 RCV000204974 |
613 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555602203 RCV000573312 CA400480133 |
615 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227749 rs2077597056 |
615 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480127 rs1397233707 RCV001208628 |
616 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000487183 RCV001013389 RCV000554110 rs1064794095 CA16620528 RCV001821394 |
617 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001262873 RCV000456484 RCV000221008 rs876660191 CA10580825 |
618 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000409999 RCV000522061 RCV000576417 RCV000556616 RCV000412318 rs587781985 RCV000130385 |
619 | P>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233838 RCV002411862 rs2077596661 |
619 | P>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297542 RCV002411949 rs2077596661 |
619 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580589 rs1555602185 RCV000530129 CA400480101 |
620 | M>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190049 RCV001228449 rs1555602185 |
620 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM562077 COSM1141226 CA10580824 RCV001296861 RCV000220360 rs876658346 |
620 | M>V | lung Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002409444 rs2077596312 RCV001053132 |
622 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077596367 RCV001337442 |
622 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622438 RCV001352164 RCV000206329 CA350375 |
623 | F>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549389 CA400480082 RCV001013454 rs864622438 |
623 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781321 RCV000589135 RCV001781464 RCV000129060 RCV000228701 RCV000254651 RCV000576387 CA293947 |
624 | S>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000197937 RCV000410706 RCV000166032 RCV000411705 rs587781321 RCV001262874 RCV000284654 COSM3421757 COSM231854 CA194817 |
624 | S>L | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome skin Familial cancer of breast Neoplasm of ovary [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001002605 RCV001224574 RCV000758992 rs935011040 RCV000568571 CA16620527 |
625 | S>P | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001217442 rs1567812484 RCV001179676 RCV002411805 RCV001875945 CA400480043 |
626 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001181169 rs2077595930 |
627 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777527 rs1567812479 RCV001365389 CA400480038 |
627 | L>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479351 RCV000583129 RCV001853914 rs1064794907 |
628 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002413328 RCV000818704 rs1064794907 RCV000478238 CA16620526 |
628 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565485 rs1555602175 CA658658669 |
628 | G>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479347 RCV000576145 rs1555602164 |
629 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188865 RCV000487110 rs1064793626 RCV001215660 RCV001271071 |
630 | T>missing | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763818712 RCV001038619 RCV000584348 RCV001800803 |
630 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181505 rs2077595608 |
630 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690640 RCV002406366 rs780407946 RCV000636128 |
630 | T>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000581967 rs1555602154 |
631 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013595 rs1603333110 CA400479318 |
631 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013588 CA400479325 rs1603333116 |
631 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479308 RCV001858189 RCV000576027 rs1555602149 |
632 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000999642 rs765314472 RCV000164796 CA191781 RCV000457977 RCV000217145 |
633 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8690637 RCV000990013 RCV000220030 RCV000662814 RCV001171799 rs28997572 RCV000234693 RCV000781165 VAR_052192 |
633 | I>M | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP |
|
RCV001586128 rs587780232 RCV001327372 |
633 | I>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288538 RCV000546290 rs587780232 RCV000116132 |
633 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468940 CA16615840 rs1060501748 |
634 | Q>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227910 rs754280136 CA400479277 |
635 | L>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501769 RCV001775808 RCV000467890 RCV001525047 CA16615511 |
636 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036969 rs2077594670 |
638 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603333030 RCV001013688 CA400479218 RCV000801721 |
639 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555602127 RCV000636182 |
640 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400479205 rs1567812341 RCV000709545 |
640 | I>T | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603333007 RCV001858717 RCV000990012 CA400479198 |
641 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985637 CA400479194 RCV000565083 rs1555602126 |
641 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077594282 RCV001178256 RCV001326485 |
644 | S>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254051324 RCV000636187 CA400479145 RCV000571285 |
645 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876660648 RCV000216298 CA10580822 RCV000990010 |
645 | Q>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA400478637 RCV001783077 RCV000565890 RCV001526941 RCV000657705 rs786202760 RCV000690470 |
647 | W>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000584404 CA400478643 rs1555601203 |
647 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165735 RCV000412383 RCV001847787 VAR_023703 RCV000709542 CA194104 RCV000410856 CA10583627 RCV000542964 rs786202760 RCV000226066 RCV001778762 RCV000481541 RCV000990006 RCV000582028 |
647 | W>C | Variant assessed as Somatic; impact. Neoplasm of ovary Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast FANCJ; associated with C-707 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD UniProt |
|
RCV001304132 rs2077537998 |
648 | V>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780475484 RCV000223303 CA8690619 RCV000469719 |
648 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000204591 rs746066323 CA348814 RCV002265685 RCV001013778 |
649 | G>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001013776 CA8690618 RCV001238342 rs746066323 |
649 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001052115 rs2077537479 |
650 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181447 rs2077537888 |
650 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757305097 CA400478598 RCV000580391 |
651 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000230038 rs757305097 RCV000218247 RCV000222634 CA8690616 |
651 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400478588 rs1555601190 RCV000581407 |
652 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690613 RCV000798098 rs756511744 RCV000221905 |
653 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567809053 CA400478566 RCV000772413 |
654 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001057125 CA8690611 RCV001759808 rs767872111 |
655 | P>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8690612 RCV000570087 rs753036322 COSM250852 RCV000231802 |
655 | P>S | liver Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP |
|
CA400478541 rs1603328913 RCV001013889 |
656 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793415 RCV002418498 RCV000480342 RCV001851146 CA16620524 |
656 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400478536 rs1322017079 RCV000695284 |
656 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001567561 RCV003155949 RCV000583417 RCV000537071 rs760782298 |
657 | G>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013898 CA400478524 rs1603328878 RCV001352229 |
657 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA292280861 rs1051619247 RCV000698925 RCV001013874 |
657 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1603328878 RCV001223118 |
657 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036157 rs2077537050 |
658 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298761 RCV001194763 RCV000774222 CA400478517 rs786203170 RCV001798975 |
658 | R>G | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759142191 RCV000781168 CA8690609 RCV000460306 RCV000575276 |
658 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000411903 RCV000205396 RCV001169900 CA195651 RCV000409454 rs786203170 RCV001557438 RCV000166362 |
658 | R>W | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001013814 CA400478500 rs1213142447 |
659 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615484 RCV000775735 rs1060501746 RCV000464396 |
660 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233455 rs1160736353 |
661 | C>F | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660402 CA10580819 RCV000213851 |
661 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400478481 rs876660402 RCV002422732 RCV000799330 |
661 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000568340 RCV001218563 rs1160736353 CA400478478 |
661 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs571340013 RCV000167392 RCV000521753 CA198181 RCV000168048 |
662 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001013917 rs1603328816 |
663 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117507 RCV002268268 CA400478459 rs1567808933 RCV000708687 |
663 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002422772 RCV000807659 CA400478426 rs1603328780 |
665 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690608 RCV001194764 RCV002418656 rs765816425 RCV001876263 |
666 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765816425 CA400478413 RCV000702583 |
666 | N>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000636174 rs1555601107 RCV002420709 CA400478358 |
670 | F>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484507 RCV001174684 RCV001781519 RCV000167209 rs775537066 RCV000205261 |
671 | E>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214355 RCV000636172 RCV000120394 rs587778135 CA157686 RCV000767211 |
671 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555601094 RCV000574351 |
672 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197264 RCV000544477 rs786203619 RCV000167010 RCV000759703 |
673 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555601084 RCV000580481 CA400478299 |
674 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478304 RCV000636077 rs1555601087 |
674 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705505 rs1567808842 CA400478309 |
674 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555601081 RCV001867861 RCV001194765 CA400478292 RCV000575692 |
675 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478297 rs1603328683 RCV001014101 |
675 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014106 rs1603328667 |
676 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555601076 CA400478274 RCV000566798 |
676 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077534052 RCV001201861 |
677 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865708 RCV000563344 rs1555601064 |
677 | G>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567808797 RCV000686741 CA400478266 |
677 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238005 rs1555601069 RCV000562530 CA400478271 |
677 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297735 RCV001806102 rs1211313166 CA400478251 |
678 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555601056 CA400478246 RCV000701584 RCV000568892 |
679 | L>F | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000213084 RCV003128146 RCV000116134 RCV000636139 RCV000409330 rs587778134 RCV000409984 RCV000469530 RCV001271072 RCV000120393 |
680 | L>missing | Uterine corpus cancer Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of ovary Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077534283 RCV001253166 |
680 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582871 rs1400202829 |
680 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063724 rs2077534379 |
680 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077534218 RCV001231885 |
682 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400478178 RCV000698055 rs1294492499 RCV000575611 |
683 | V>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000805847 rs773347072 CA8690606 |
683 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000663038 RCV000223392 RCV001041952 CA10580817 rs876659533 |
685 | Q>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002298824 RCV001014249 rs1603328545 CA400478148 |
685 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077533936 RCV001034804 |
685 | Q>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769820537 RCV000536608 RCV000587464 RCV003150262 CA8690605 RCV001014251 |
686 | T>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603328535 CA400478136 RCV001014258 |
686 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555601030 RCV001796100 RCV000525384 CA400478123 |
687 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659296 RCV000215398 RCV001589149 CA10580816 RCV001359108 |
687 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000225925 rs878855144 CA10583626 RCV000572253 |
690 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818324 RCV000410807 RCV000229910 RCV000131304 rs587782356 CA294357 RCV000409629 RCV000212317 |
691 | I>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400478073 rs587782356 RCV000701123 |
691 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1603328466 RCV000781183 RCV003166071 |
693 | C>missing | Familial cancer of breast Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065843 rs1555601008 RCV002258122 |
695 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501772 RCV000461704 RCV002418375 RCV001388237 |
696 | P>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781170 RCV000662731 rs147755155 RCV000116135 RCV003144129 RCV000212318 RCV001762240 RCV001355750 CA288543 RCV000204798 |
696 | P>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA400477988 rs1603328417 RCV001014399 |
697 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811551 rs1603328426 CA400477990 |
697 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555601002 CA400477963 RCV000573931 |
699 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658270 CA10580815 RCV000222016 RCV002519666 |
701 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555591547 RCV000573366 CA400483413 |
702 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485974 RCV000203877 rs786203384 RCV003133158 RCV000166665 |
703 | K>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762590242 CA8690590 RCV001324113 RCV000579457 |
703 | K>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002418233 RCV001267955 CA16042174 RCV000636132 RCV000411722 rs1057517643 RCV000409317 |
704 | L>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216913 RCV001193528 rs864622611 RCV000204583 RCV000662725 RCV000569882 RCV001781612 |
705 | K>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077034404 RCV001183531 |
706 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227729 RCV000213828 VAR_023704 rs764803896 CA8690587 RCV001194768 RCV000990001 RCV000561689 |
707 | R>C | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast FANCJ; associated with C-647 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs764803896 RCV001050777 RCV002416384 |
707 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480168 CA8690586 RCV000702861 rs200313471 RCV000583533 |
707 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000475605 RCV001354165 RCV000584331 CA8690585 rs200313471 |
707 | R>L | Hereditary cancer-predisposing syndrome Familial cancer of breast Familial ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs764803896 CA400483312 RCV000793099 |
707 | R>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001177286 rs2077034073 |
708 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400483276 rs1567781600 RCV001873161 RCV000776961 |
709 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077033994 RCV001214603 |
709 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580045 rs1555591505 CA400483264 |
710 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690584 RCV001323508 rs768393936 |
710 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8690583 RCV000781187 RCV000568562 RCV001764553 RCV000526515 rs760515227 RCV001030539 |
711 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs760515227 RCV001309540 |
711 | T>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567781543 RCV000692158 |
712 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061156 rs1060501755 |
712 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348413 CA400483241 rs1060501755 RCV001188567 |
712 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501755 CA16615831 RCV001786388 RCV000468222 |
712 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10583625 RCV000229169 rs878855145 |
713 | L>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776601 CA400483214 rs1567781516 |
714 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603304614 RCV001014591 CA400483228 RCV001860767 |
714 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077033211 RCV001064298 |
715 | H>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222893 rs1253181575 CA400483206 |
715 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16615506 RCV000465706 RCV001193532 rs1060501745 RCV000563216 |
716 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001063845 rs2077032975 RCV002429710 |
717 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855146 RCV000233153 RCV000573342 |
720 | V>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555591459 RCV001357775 CA400483158 RCV000581314 RCV000800859 |
720 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483132 rs1603304593 RCV001014661 RCV001216078 |
722 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579729 CA400483134 rs1555591453 |
722 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222035 RCV000636157 rs145616741 RCV000222292 RCV001174560 CA10577559 |
723 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001299215 RCV002291728 RCV001181522 rs2077032430 |
724 | I>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057197 rs777860588 |
724 | I>M | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163183 rs1236873736 CA400483105 RCV000694607 |
725 | V>I | Variant assessed as Somatic; 0.0 impact. Familial cancer of breast Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA400483087 RCV000539238 rs1555591425 RCV001014643 |
726 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659826 RCV000214009 CA10580814 |
726 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400483083 RCV001014646 RCV000691600 rs769797684 |
727 | P>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000481353 RCV000219308 RCV000469514 CA10580813 rs876659309 |
727 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876659309 RCV001180708 |
727 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035631 RCV002427481 rs1296238058 CA400483075 |
728 | Q>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2077031766 RCV001349716 |
728 | Q>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1404094308 RCV002429674 CA400483058 RCV001057343 |
729 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000556236 RCV000566354 rs1555591407 CA400483064 |
729 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573512 RCV001821669 rs748616469 RCV001566458 CA8690575 RCV000636134 |
730 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001014685 rs1603304544 CA400483046 RCV001039470 |
731 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077031435 RCV001238717 |
733 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060127 rs1353526212 RCV001179146 CA400482998 |
735 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555591385 RCV000657812 RCV000703182 |
736 | D>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054747 rs2077031257 |
736 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482964 RCV000777105 rs1567781239 |
738 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567781239 RCV000772594 CA400482963 |
738 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780234 RCV002415596 CA288546 RCV000116136 RCV000526865 |
739 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555591365 RCV000534157 RCV002431576 |
740 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581423 CA400482947 rs1555591361 |
740 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555591361 RCV001206871 |
740 | Q>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001798382 RCV000409608 RCV000123354 RCV000120396 RCV000488342 CA157692 RCV001358098 RCV000989999 RCV000411134 CA8690571 RCV000131414 rs45589637 RCV000778128 |
740 | Q>H | Fanconi anemia complementation group J BRIP1-Related Disorders Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000700250 rs1567781169 |
741 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA626801760 RCV002424401 RCV000636124 rs1310861578 |
741 | V>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000564166 RCV001227050 rs1555591357 CA400482933 |
741 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482938 RCV002429675 rs1308293137 RCV001058467 |
741 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002431900 rs1308293137 RCV001316484 |
741 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561359 rs1555591351 CA400482922 |
742 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573545 rs1555591351 RCV000759707 RCV000801819 CA400482924 |
742 | Y>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077030288 RCV001232702 |
743 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636127 rs750033391 RCV000166681 CA196455 |
743 | Y>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002524160 CA400482893 RCV000583929 rs374362388 RCV000502318 |
744 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA400482899 rs1555591345 RCV000582694 |
744 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000194594 RCV000662754 COSM1184941 rs587780235 RCV000477497 RCV001762241 RCV000586157 COSM982278 CA208855 RCV000116137 |
745 | A>T | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001384433 RCV000551045 RCV000132220 rs587782726 |
746 | I>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002225367 RCV003149826 RCV000409120 CA157689 RCV001084184 rs111536363 RCV000410719 RCV000129045 RCV001356261 RCV000120395 |
746 | I>V | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA400482848 rs1257401983 RCV000504601 RCV000694900 RCV001554339 RCV000657691 RCV000576013 |
748 | Y>* | Breast carcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587782556 RCV000484256 RCV000131774 CA168734 RCV000467599 |
749 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs764061653 RCV001245056 CA8690569 RCV000775417 |
750 | G>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000564112 rs1555591308 RCV001783070 |
751 | E>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690568 rs760438320 RCV001237597 RCV000562106 |
751 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs730881649 RCV001781501 RCV000662905 RCV000167986 RCV000212320 RCV000587824 RCV000160364 |
752 | K>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819597 RCV000773395 rs1555591308 RCV003166043 |
752 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001804958 RCV001043521 CA10580811 RCV000215789 rs876659651 |
752 | K>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001248527 CA10580810 RCV000217131 rs876660016 |
752 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077009355 RCV001246170 |
753 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190618 rs745578572 RCV001194773 RCV000234088 RCV000164317 RCV001706079 RCV000662914 |
753 | D>G | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1603304458 RCV000802070 CA400482804 |
753 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812413 RCV000777059 rs1555590565 CA400482754 |
755 | A>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555590565 CA400482753 RCV000636159 RCV002448973 |
755 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001030538 rs2077009187 |
756 | L>F | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482740 rs1192826909 RCV001014858 |
758 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001193525 RCV000636094 RCV000576781 RCV000116138 RCV000258967 rs587780236 |
759 | A>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555590521 RCV000564352 |
761 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572550 RCV000545443 rs1422958547 CA400482721 |
761 | C>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000777049 CA400482719 rs1567779745 RCV000792444 |
761 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000120398 RCV000457123 RCV000657037 RCV000565299 rs587778136 CA157698 |
762 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000663145 RCV003150017 RCV000227922 CA191375 rs200960251 RCV000164605 COSM1135974 RCV000855584 RCV001122086 RCV000590146 COSM473150 |
762 | R>H | kidney Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8690558 RCV000573939 RCV000806586 rs200960251 |
762 | R>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000561123 rs200960251 CA400482713 |
762 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002448661 rs1555590511 CA658658661 RCV000553339 |
762 | R>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690557 rs371484780 RCV001015073 |
763 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10580809 rs876660890 RCV000217157 |
763 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482707 RCV002268404 rs1603303860 RCV001015085 |
764 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555590489 CA400482700 RCV000575297 RCV001764661 |
765 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580498 RCV001063685 RCV001194707 rs369434185 RCV001122085 RCV001030537 CA8690555 |
767 | E>D | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2077008054 RCV001067016 |
768 | G>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482675 RCV001860782 RCV001015018 rs1603303846 |
768 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482665 RCV000636107 rs1555590457 |
770 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775416 RCV000707522 CA8690553 rs146091205 |
773 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001015186 CA400482635 rs1057520434 RCV001860786 |
774 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000580132 rs992780498 CA292268913 |
774 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA350336 RCV001731436 RCV000520323 rs375146450 RCV000206272 RCV000571248 |
775 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000663063 RCV001030536 RCV000120397 RCV000475545 RCV000165749 rs571108955 CA157695 RCV000656813 RCV003153386 |
775 | N>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA400482624 RCV001015196 RCV000636070 rs1555590421 |
776 | A>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077007192 RCV001307429 |
776 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003168952 rs1064794689 RCV000477985 |
777 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164534 RCV000529694 CA191205 rs768555161 RCV001552975 |
777 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768555161 RCV000695760 RCV001015205 CA8690551 |
777 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1243106 RCV000636177 CA8690550 RCV002286722 RCV000215983 rs747568830 COSM1243107 |
777 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs747568830 RCV000772410 RCV001327173 CA400482620 |
777 | R>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001220461 RCV002447107 rs2077006983 |
778 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482607 rs1567779485 RCV000687045 |
779 | V>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603303802 RCV001043242 |
779 | V>F | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015219 COSM982274 rs1603303802 COSM1153120 RCV001238686 CA400482612 |
779 | V>I | Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1603303802 RCV000818896 CA400482611 |
779 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482604 RCV001348845 rs1467232177 |
780 | I>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8690549 RCV001860787 RCV001015221 rs776131401 |
780 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603303793 RCV001015235 CA400482601 |
780 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797013 RCV000575012 rs1467232177 CA400482602 |
780 | I>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400482603 RCV000797453 rs1467232177 |
780 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776131401 RCV001052718 RCV002451216 |
780 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177936 RCV000662926 rs1555590388 |
781 | T>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555590382 CA400482595 RCV000565998 |
781 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000583295 CA8690547 RCV001755973 rs778758437 RCV000816110 |
782 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs142806416 RCV000131421 CA168131 RCV000410875 RCV000409672 RCV000759709 RCV000989996 RCV000234751 |
782 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001776148 RCV001220140 rs2077006387 |
783 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482582 rs1603303771 RCV000796017 |
784 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555590356 RCV001190534 |
787 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482558 RCV000563101 rs1555590356 |
787 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000144587 rs587783045 CA270846 |
788 | N>K | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501728 RCV000456256 CA16615501 RCV001179535 |
789 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015298 RCV000689257 RCV001762508 rs876661097 RCV000222877 CA10577560 |
789 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659615 RCV000222611 RCV000705289 CA10580806 CA400482532 |
791 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
CA400482533 rs876658934 RCV002456089 RCV000547000 |
791 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001171422 rs876658934 RCV000461754 RCV000216036 RCV000478836 CA10580807 |
791 | D>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587782574 CA168781 RCV000131801 RCV000703456 RCV000519624 RCV000663018 |
793 | Q>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400482520 rs1567779336 RCV000785562 |
793 | Q>H | Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562557 rs1261005517 CA400479861 RCV000636113 |
794 | V>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000663309 CA298825 RCV000160319 RCV000781178 RCV000212323 rs730881622 RCV000477092 RCV001194708 |
797 | K>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000504276 RCV000116139 RCV000515368 RCV000205436 RCV000212324 RCV000312325 RCV000778127 RCV000989994 RCV001355458 RCV001535465 RCV003155909 RCV003162209 rs137852986 RCV000394625 RCV000005004 RCV003149564 RCV000409918 CA253268 |
798 | R>* | Fanconi anemia complementation group J Breast cancer, early-onset BRIP1-Related Disorders Fanconi anemia Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Gastric cancer Ovarian cancer Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM297552 CA169845 RCV000475477 RCV000132435 RCV002509244 RCV000662702 rs375082407 RCV000220012 |
798 | R>Q | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001015391 CA400479807 rs1603293473 |
799 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001270930 RCV000205848 RCV000588697 RCV002272137 rs574552037 RCV000254652 RCV000131417 CA294369 RCV001180451 |
800 | Y>* | Fanconi anemia complementation group J Breast-ovarian cancer, familial, susceptibility to, 1 (brovca1) Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, Ensembl] | Yes |
ClinVar dbSNP ClinGen 1000Genomes ExAC gnomAD |
|
RCV001337828 rs2061856846 |
800 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268183 RCV000695935 RCV000565658 rs1305107535 CA400479791 |
800 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001015418 CA400479779 RCV001227086 rs1408016407 |
801 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555580947 CA400479767 RCV000565853 |
801 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001571264 RCV001015421 rs1325317591 CA400479773 RCV000691047 |
801 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8690534 rs748981650 RCV001232798 RCV002447166 |
802 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10580805 RCV000222483 rs876660273 RCV000548413 RCV000781184 |
802 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555580944 CA400479764 RCV000567782 |
802 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479740 RCV001015435 rs762039913 |
803 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061856155 RCV001040505 |
803 | H>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699560 RCV001015448 rs777277034 CA8690532 |
804 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001040141 rs2061855838 RCV002445225 |
805 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571281 RCV001854562 CA288550 rs587780237 RCV000116140 |
808 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568103 rs1555580892 CA400479668 RCV001053457 |
809 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555580886 RCV002456090 RCV000560808 CA400479659 |
809 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247111 rs2061855206 |
810 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288553 rs587780238 RCV000116141 RCV000231144 RCV000570772 |
810 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001346660 rs876659410 |
812 | P>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535997 RCV000579710 rs876659410 RCV000587115 CA400479625 |
812 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580804 RCV000219849 rs876659410 |
812 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs779915262 RCV001051924 |
812 | P>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356698 RCV000662392 RCV000120399 RCV001083712 CA157701 RCV000588835 RCV000131535 rs201869624 RCV001030535 RCV000709540 |
814 | R>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000801683 CA16620518 RCV000483176 rs201869624 RCV000567310 |
814 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA166286 RCV001356230 RCV000130375 rs45468199 RCV000410258 RCV000234009 RCV001030534 RCV000218503 RCV000411419 |
814 | R>H | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001015566 CA400479591 rs1282067719 |
815 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064795352 CA16620517 RCV000485368 RCV000775951 |
816 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204250 RCV001382996 RCV000168450 CA334772 |
816 | W>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015575 RCV001320415 CA400479574 rs1064795352 |
816 | W>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560924 rs1338241931 CA400479582 |
816 | W>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000662910 rs1555580828 CA400479564 |
817 | Y>C | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548486 rs1555580819 CA400479557 |
818 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555580819 RCV001210964 |
818 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061854079 RCV001176377 |
820 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690651 CA10580803 rs876658697 RCV000223309 |
821 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636138 rs1483527885 |
822 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781572 RCV001295270 CA164760 RCV000129606 |
822 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760887592 RCV000574768 RCV000196234 CA336264 |
822 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000777286 RCV003153835 CA400479485 rs1567755628 |
823 | R>G | Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054437 rs45479297 |
823 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356515 CA288556 rs587780239 RCV000116142 RCV000662607 RCV000123356 RCV000590497 |
823 | R>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1603293334 CA400479472 RCV001015663 |
824 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774939280 RCV000796893 CA400479434 |
826 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8690523 rs760127237 RCV002225651 RCV000582319 RCV000541763 RCV000587241 |
826 | N>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000229009 RCV000580273 rs786203898 CA10583622 |
827 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177707 RCV001875855 rs2061853111 |
827 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA198205 RCV000167402 RCV001850368 rs786203898 |
827 | Q>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429995 rs2061853042 RCV001232689 |
828 | A>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659062 RCV000572594 CA400479392 |
830 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659062 CA10580802 RCV000222074 |
830 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000538973 RCV001389637 rs1555580769 |
831 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771382903 RCV000549959 CA8690521 |
831 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000525948 CA400482506 rs768222842 RCV000579758 |
832 | C>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8690494 rs768222842 RCV001216249 |
832 | C>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580799 RCV000216630 RCV000463029 RCV001311492 rs876660936 |
833 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199831248 RCV000215748 CA10580800 RCV001051764 RCV000709539 RCV000989993 |
833 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183715 rs2061478980 |
835 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482482 rs775547651 RCV000538672 |
835 | H>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061398 rs2061478781 |
836 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501736 RCV000463753 CA16615500 |
836 | R>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061478740 RCV001351309 |
836 | R>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482473 RCV000685372 rs1555574810 RCV000569662 |
837 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689226 rs1567737801 CA400482464 |
838 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636075 rs1555574803 RCV003162845 CA400482454 |
839 | W>* | Familial cancer of breast Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482458 rs1555574807 RCV000793510 |
839 | W>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482460 RCV000773235 RCV000636142 rs1555574807 |
839 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555574796 RCV000565568 |
840 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555574796 RCV000771734 |
841 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400482445 rs1555574790 RCV000530868 RCV000573067 |
841 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061477722 RCV001040843 |
842 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564088 rs1555574788 RCV001205607 |
842 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603280507 RCV001015813 |
842 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164278 rs786201802 CA190522 RCV001055593 |
842 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501751 RCV001015835 RCV000456694 RCV001775806 CA16615830 |
842 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201802 COSM3795897 RCV000693924 RCV000221450 CA10580798 COSM3795896 |
842 | L>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. urinary_tract Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs996693020 RCV000773644 RCV000820958 CA292270118 |
843 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001194711 CA400482427 rs1555574776 RCV000574404 RCV001030533 |
844 | L>P | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482421 rs1555574775 RCV000571541 |
845 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659409 CA10580797 RCV000216557 RCV000701138 |
846 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215166 RCV000538746 CA10580796 rs876659013 |
847 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570309 RCV000456342 CA16615788 rs45572934 |
848 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000696907 CA10580795 rs45572934 RCV000216369 |
848 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA165626 RCV000130056 RCV001255230 RCV000699539 RCV000663220 rs374334794 RCV002273958 RCV001194712 |
848 | R>H | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000131711 RCV000212326 RCV001220332 rs45572934 CA294430 |
848 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA192420 rs786202317 RCV001318958 RCV000165064 |
849 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202834 rs2061477480 RCV003163527 |
850 | R>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130050 rs587781793 CA165618 |
851 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179659 rs2061477443 |
851 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218071 rs745782331 CA8690490 RCV000556037 RCV001194713 |
852 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876658785 RCV001054709 |
852 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473074 CA16615499 rs1060501775 |
853 | P>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000636106 CA400482370 rs1060501775 |
853 | P>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061477133 RCV001205155 |
854 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662411 RCV000780055 CA338792 RCV000199690 RCV000709538 rs146031731 RCV000215624 RCV000478148 |
855 | R>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200894063 CA270849 RCV000116144 RCV000662940 RCV000589567 RCV000144588 RCV000167924 |
855 | R>H | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000464228 RCV000580601 CA8690489 rs200894063 |
855 | R>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001015961 CA400482351 RCV001873269 rs146031731 |
855 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000569256 RCV000636158 RCV000663234 rs781556845 CA8690488 RCV000481563 |
856 | Y>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002307678 rs2061476921 RCV001070443 |
856 | Y>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792894 rs1427254734 CA400482318 |
857 | I>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001865710 rs766432760 RCV000567986 CA8690485 |
857 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803884 RCV001015978 CA8690486 RCV002268294 RCV001030532 rs28904918 |
857 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1064793893 CA16620515 RCV001524371 RCV001194203 RCV000478046 |
858 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061476512 RCV002430034 RCV001243419 |
859 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636111 rs1555573507 CA400482012 RCV002424400 |
860 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196126 RCV000116146 RCV001356499 CA288561 RCV000212328 RCV000662554 rs587780242 |
860 | L>P | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221150 rs1567732136 |
861 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197963 rs774415723 RCV000167301 RCV000533602 |
861 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567732145 CA400482008 RCV000697306 |
861 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400482003 RCV000791761 RCV002424790 rs1603277012 |
862 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570125 CA400481997 rs745318756 |
862 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555573497 RCV001525099 CA400481991 RCV000636183 |
863 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804466 CA10580793 rs876660452 RCV000219467 |
863 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603277005 RCV000808883 |
864 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016037 RCV000794092 rs1294102948 CA400481985 |
864 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs149529390 CA8690474 RCV000546088 RCV000679781 RCV000575702 |
864 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270801 RCV000198650 RCV000507155 RCV001565835 RCV001199264 rs781609846 RCV000165535 CA193631 |
865 | R>Q | Fanconi anemia complementation group J BRIP1-Related Disorders Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000662563 RCV000228828 RCV000217245 COSM1589090 RCV000709537 CA8690473 COSM982272 rs578022079 RCV002267955 RCV000586310 |
865 | R>W | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000130366 rs587781974 |
866 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820343 rs1603276987 CA400481975 |
866 | Q>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA292268214 RCV001323278 rs182028200 |
867 | Q>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs2061361421 RCV001220208 |
868 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481958 RCV000689517 rs1060501766 |
869 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000584460 CA16615784 rs1060501766 RCV000470789 |
869 | Q>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501733 RCV000775728 RCV000461585 RCV002275040 CA16615498 |
869 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000206566 CA350588 RCV001304505 rs864622201 |
870 | H>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001187053 CA400481944 rs1171326662 |
871 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000166525 RCV001369525 CA196097 rs786203288 |
871 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002512541 rs587781964 RCV000130343 CA166231 |
872 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061360803 RCV001316395 |
872 | S>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758444508 RCV000557628 RCV000571092 CA8690469 |
873 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10577558 RCV001854743 rs758444508 RCV000216067 |
873 | T>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000223507 RCV000231669 CA10580792 rs876659099 RCV001174776 |
875 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400481914 RCV001016139 rs1555573469 RCV000636171 |
876 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690468 RCV000565343 rs750961319 RCV001300400 |
876 | S>N | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000705219 rs1032574757 RCV002436543 CA16620514 RCV000482339 |
876 | S>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400481908 rs1567731966 RCV002424616 RCV000690686 |
877 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185977 RCV000533672 CA400481904 RCV002274060 rs1555573465 |
877 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481903 rs1603276933 RCV001016176 |
878 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314217 rs1202665874 |
879 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481898 RCV000691813 rs1391013628 |
879 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567731917 RCV000705615 |
881 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061359874 RCV001065202 |
881 | L>W | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016197 CA400481877 rs1603276913 |
882 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000761995 RCV001869047 RCV001805844 rs1453990721 CA400481868 |
883 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000562212 rs1555573451 CA400481857 |
884 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757668121 RCV001188462 RCV001216309 |
888 | H>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233812 rs2061359359 |
888 | H>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679782 RCV000561017 RCV002298519 RCV000410305 RCV000411371 CA337727 RCV000198208 rs757668121 |
888 | H>Y | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001016254 CA400481818 rs1603276892 |
890 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016256 RCV002221599 CA400481815 rs902432731 RCV001373483 |
890 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001057625 CA8690467 rs754224663 RCV001806004 |
891 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001346904 rs754224663 RCV000571380 CA400481812 |
891 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061358811 RCV001221038 |
892 | L>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002288925 RCV001310103 RCV000232131 RCV001358606 RCV000481257 RCV001391201 RCV001270931 rs760551339 RCV000563726 RCV001535435 RCV002467445 |
894 | V>* | Carcinoma of pancreas Fanconi anemia complementation group J BRIP1-Related Disorders Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603276880 RCV001016313 CA400481784 RCV001365463 |
894 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764406913 CA400481761 RCV000547656 |
896 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000481975 RCV001798718 rs764406913 CA8690466 RCV000222623 RCV000458509 |
896 | I>V | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2061358219 RCV001204427 |
897 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001088100 RCV000478765 rs587781644 CA165061 RCV000129774 |
897 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002255535 RCV000815672 rs1603276849 CA400481719 |
899 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797965 rs1359809807 CA400481715 |
900 | T>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000412341 RCV000229209 RCV000116148 RCV000212329 CA288567 RCV000410789 rs587780244 RCV000656814 |
902 | I>M | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001563320 rs1060501781 CA16615780 RCV000773139 RCV000465302 RCV000589053 |
902 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1603276837 RCV001188268 CA400481699 RCV000795930 |
903 | Q>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436578 rs2061357542 RCV001047161 |
903 | Q>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318946 rs1567731807 |
904 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555573413 RCV000636161 RCV001798935 RCV003159145 RCV002289939 RCV002424402 CA400481690 |
904 | D>N | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000773669 CA400481676 rs1567731795 |
905 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002431577 RCV000540935 CA400481678 rs1555573412 |
905 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002430101 rs1042327124 RCV002463463 RCV001301044 |
906 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580791 rs876659677 RCV000220706 |
906 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002473229 rs2061357079 RCV001225318 RCV002429954 |
907 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164448 CA190975 rs786201919 RCV000586440 RCV000699974 |
908 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781853 RCV002430006 RCV001235183 |
909 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690461 RCV000775413 rs770966270 RCV000548026 |
909 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770966270 RCV000462258 CA10603383 RCV001189628 RCV000392670 |
909 | L>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002512538 rs587781853 RCV000130159 CA165834 |
909 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603276787 CA400481652 RCV000800981 |
910 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686041 CA400481655 rs1007808618 RCV002424585 |
910 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000817172 CA16620513 RCV000484483 COSM1303147 RCV000563513 rs1007808618 COSM1303148 |
910 | E>Q | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. urinary_tract Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000583378 CA400481647 rs1555573392 |
911 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481648 RCV001016425 rs1555573392 |
911 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752780954 RCV000657456 RCV000570668 RCV000469617 RCV003155943 |
912 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214831 RCV001182223 CA8690459 rs571949350 |
912 | T>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000571316 rs1555573386 RCV001383629 |
913 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315279 CA400481636 rs1555573382 RCV000565233 |
913 | S>A | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10646355 RCV000575449 RCV000815188 RCV002268031 rs886053215 RCV000394613 |
914 | L>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481616 RCV001016473 rs1603276760 |
916 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247316 CA400481609 rs1603276749 RCV001016479 |
917 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555573369 CA400481608 RCV000584587 |
917 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477291 CA16615777 rs1060501759 |
918 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002295282 rs587781298 RCV000129006 CA163640 |
918 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989991 RCV000412161 RCV000120400 CA157704 RCV000132148 RCV000410195 RCV002225368 VAR_020905 rs4986764 RCV001640104 RCV000755225 |
919 | S>P | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000813742 rs1603276728 |
920 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061355556 RCV001178777 |
920 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA168171 rs587782410 RCV000412207 RCV000410978 RCV002288648 RCV000468535 RCV000588116 RCV000216847 RCV000131449 |
922 | L>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2061355023 RCV001296801 |
923 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636143 CA400481569 rs1555573342 |
924 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234075 rs2061355212 |
925 | A>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055764 rs2061355245 RCV002436619 |
925 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292268093 RCV001016557 RCV001575873 rs1003917080 RCV001127856 RCV000816540 |
926 | A>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000583724 RCV001227207 rs1483709056 CA400481553 |
926 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001058077 rs2061355061 |
927 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184523 rs1295703239 RCV001194730 RCV000636079 |
929 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045856 rs772087074 RCV000579584 CA400481533 |
929 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772087074 RCV001016604 CA8690457 |
929 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000772038 rs1384396768 CA400481531 RCV002534002 |
930 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000465431 rs1295703239 |
931 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636071 rs1555573327 |
931 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574168 rs932408573 CA292268084 RCV001867884 |
931 | P>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA400481525 COSM1159308 RCV000703868 COSM1159307 rs745940032 |
931 | P>S | pancreas Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs778916092 RCV001342950 |
934 | F>C | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438231 RCV000507680 rs1259968679 RCV000692123 RCV001357768 CA400481501 RCV000679783 |
934 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA348966 RCV001575907 RCV001192827 RCV000320950 RCV000204761 rs778916092 RCV000221756 |
934 | F>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000408962 RCV000410527 RCV000200748 RCV000567218 rs863224801 COSM2793757 COSM2793758 CA339524 |
934 | F>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast Neoplasm of ovary breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs4988356 RCV001194202 RCV001348251 |
935 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003144130 rs4988356 RCV000656815 RCV003149827 CA157707 RCV000120401 VAR_020906 RCV000213879 RCV000662595 RCV000468023 |
935 | V>G | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA400481499 rs1219152456 RCV001187192 RCV000780065 RCV001233637 |
935 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001189351 rs878855149 |
936 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481492 RCV000799061 rs878855149 RCV002440662 |
936 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700138 CA8690455 rs754280048 RCV001766526 RCV000771441 RCV001284117 |
936 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10583619 rs878855149 RCV000230139 |
936 | E>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374335608 RCV001317726 |
937 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338325 rs2061354479 |
937 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061354513 RCV001298003 RCV002437013 |
937 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061354513 RCV001040245 |
937 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808415 rs199643061 RCV000574686 CA292268072 |
938 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690454 RCV000522943 RCV000553783 rs756490117 RCV000775412 |
939 | A>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001302743 rs2061354305 |
939 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440548 rs1567731308 RCV000706890 CA400481439 |
942 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854716 RCV000221289 CA8690452 rs370330739 |
942 | C>Y | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1260994999 RCV001016703 |
943 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204143 RCV000168126 RCV002433722 CA334304 |
943 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697488 rs1401830781 CA400481425 |
943 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061353736 RCV001194731 RCV003163491 |
944 | Q>missing | Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853825 RCV000576521 rs140233356 CA8690450 |
944 | Q>* | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000409338 RCV000585934 RCV000199089 rs140233356 RCV000855583 RCV000411198 CA288570 RCV001030467 RCV000116149 |
944 | Q>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001346513 RCV002438803 rs1603276606 |
944 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148232408 CA8690449 RCV000805846 |
944 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000217954 rs148232408 RCV000694637 CA10580788 |
944 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs876659212 RCV000215452 |
945 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400481403 rs863224802 RCV000805332 |
945 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs863224802 CA335751 RCV001785514 RCV000195543 RCV000775411 |
945 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1603276593 CA400481387 RCV000805424 |
946 | L>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603276593 RCV001016570 RCV002550817 CA400481385 |
946 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001863070 rs2061353270 RCV001194732 RCV002436768 |
947 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659756 CA400481371 RCV000564956 |
947 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659756 CA10580786 RCV000529936 RCV000221925 |
947 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054230 RCV000773825 CA400481350 rs1567731150 |
948 | C>W | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481327 RCV000810128 rs1603276576 |
950 | K>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775410 rs730881626 RCV001057053 RCV000160325 CA298841 |
951 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463491 rs1060501735 CA16615776 RCV000565471 |
952 | I>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194733 RCV000215700 RCV000989990 RCV000214349 RCV001030466 RCV000662447 CA8690447 rs200239986 RCV000227974 RCV000709536 |
952 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002438787 rs587780245 RCV001343298 |
953 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016792 rs201672040 RCV001855912 CA8690446 RCV000758993 |
953 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA16615774 RCV000579631 rs587782244 RCV000468640 |
955 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA167441 RCV000367894 rs587782244 RCV000464105 RCV001192822 RCV000130948 RCV002254681 |
955 | N>H | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8690445 RCV001853824 rs761639530 RCV000576318 |
956 | S>* | Fanconi anemia complementation group J Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001206417 CA400481250 RCV001819895 RCV002436795 rs761639530 |
956 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297333 rs2061352600 |
957 | P>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA195288 rs786203077 RCV000166219 RCV000469949 RCV000508234 |
957 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000588258 RCV000166915 rs145859791 RCV000542669 CA197020 |
958 | L>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567731036 RCV001184275 |
959 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796026 rs1567731036 RCV001759429 RCV003165939 RCV000709535 CA400481219 |
959 | P>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808016 rs1603276532 CA400481213 |
960 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603276532 RCV001219568 |
960 | S>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615773 RCV000461289 rs1060501732 |
961 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001797647 RCV000662667 RCV000164008 rs786201632 CA189776 RCV000197368 |
962 | I>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400481185 RCV000810773 rs1603276520 |
962 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400481170 rs1603276518 RCV001016858 |
963 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053714 rs2061351932 |
965 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1176224216 CA400481115 RCV001316093 RCV000562545 |
967 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1305928655 RCV000636061 RCV000771510 CA400481120 |
967 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA294472 RCV000989989 rs587782679 RCV000470512 RCV000709534 RCV000132105 |
968 | K>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400480774 RCV002549443 RCV001016900 rs1603275723 |
969 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555572994 CA400480769 RCV000531641 |
970 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166442 CA195885 RCV000989986 RCV000472014 rs786203224 RCV000709533 RCV000662959 RCV002259316 |
972 | V>I | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060501727 RCV000470953 RCV000775755 CA16615771 RCV000989985 |
973 | F>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501727 RCV001180412 |
973 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501727 RCV001207890 |
973 | F>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061326585 RCV001178287 |
975 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603275707 RCV001017511 CA400480736 |
975 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351320 RCV000204833 CA349021 rs864622628 |
977 | A>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685333 CA400480721 rs864622628 |
977 | A>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294576 RCV002437002 rs864622628 |
977 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770352467 RCV000805150 CA8690422 RCV001805875 |
977 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA298844 RCV000205057 RCV002254684 rs730881627 RCV000212331 RCV000160326 |
979 | K>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001186466 rs2061325944 RCV001044097 |
980 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773059 rs1316369686 CA400480692 RCV001856039 |
982 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001559147 RCV000527467 RCV001194734 rs774684620 RCV000470250 RCV000580476 RCV001783042 RCV000708605 RCV001356979 |
983 | I>missing | Breast carcinoma Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690420 RCV001182220 RCV001038469 rs755337038 |
983 | I>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001359837 rs746715917 CA8690418 RCV000581206 |
983 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000636117 RCV000412403 rs587781417 CA164119 RCV000409964 RCV001775619 RCV000129283 |
983 | I>N | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001525964 RCV001322142 rs587781417 |
983 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061325330 RCV001066365 |
984 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065298 RCV002436659 rs2061325330 |
984 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480669 RCV000575520 rs1555572950 |
985 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690417 rs182087528 RCV000697466 RCV000221048 |
986 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1567729555 RCV001861943 CA400480658 RCV000709532 RCV001805828 |
987 | R>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061324917 RCV001051786 RCV002436603 |
988 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758032378 COSM1710581 RCV000568516 COSM1710580 CA8690416 RCV000799177 |
988 | S>F | Hereditary cancer-predisposing syndrome skin Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001060834 rs2061324880 |
988 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061324725 RCV001212741 RCV002436820 |
991 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564653 rs1555572936 CA400480635 |
991 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206207 rs2061324557 |
992 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061324557 RCV001035868 |
992 | T>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067649 rs1276811545 RCV001191199 |
992 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615828 rs1060501756 RCV001017751 RCV000472413 RCV001764399 |
993 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579932 CA400480609 RCV001853870 rs1555572929 |
995 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400480600 RCV000773988 rs1567729513 |
996 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811494 rs1603275641 CA400480074 |
996 | Q>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230820 RCV003155936 RCV000410664 RCV000214087 RCV001193526 RCV000234901 RCV002272183 rs771028677 RCV000411728 |
997 | T>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary Hereditary breast ovarian cancer syndrome Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780050 rs749978235 RCV000772635 CA8690415 RCV000758995 RCV000636087 |
997 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771028677 RCV000233395 RCV000565373 |
998 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563472 RCV001293609 RCV001731542 RCV000502446 rs878855151 RCV000227245 RCV000481580 |
998 | K>missing | Breast cancer, early-onset BRIP1-associated familial cancer predisposition Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167141 RCV000663176 RCV001781517 RCV002265649 RCV001554295 RCV002288764 rs786203717 RCV000458808 RCV000478533 |
998 | K>missing | Breast carcinoma Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400480046 RCV000579973 rs1555572922 |
998 | K>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217097 RCV000989984 RCV000220971 CA400480036 RCV000544259 CA8690414 rs757225144 |
998 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ExAC ClinVar dbSNP |
|
RCV001017827 rs1603275633 CA400480055 |
998 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555572922 RCV000581118 CA400480045 |
998 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603275616 RCV001017864 |
999 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603275620 CA400480031 RCV000796193 |
999 | R>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000771666 rs1567729445 |
1000 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017994 rs1603275610 RCV001860888 CA400480019 |
1001 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812231 rs763443434 RCV000758996 RCV000165914 |
1002 | W>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690411 RCV000215027 rs546083449 CA8690410 |
1002 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002440693 RCV000803357 rs1603275598 |
1006 | N>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1384999 RCV000570242 RCV000275619 RCV002268030 rs886053214 COSM1384998 RCV000811266 CA10646342 RCV001355025 |
1007 | S>Y | Fanconi anemia complementation group J large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001298045 rs1165704345 |
1008 | L>M | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212649 RCV002436819 rs2061323067 |
1008 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555572908 RCV000696070 CA400479966 RCV000569183 |
1009 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636097 CA163764 RCV001233351 RCV003166432 RCV000129073 rs587781328 |
1009 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555572908 RCV001343231 |
1009 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689637 CA400479954 rs1567729362 RCV001176640 RCV001779059 |
1011 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693242 CA400479938 RCV000569442 rs1278002478 |
1013 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000556790 CA400479934 rs1372474933 RCV000568033 |
1013 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1372474933 CA400479935 RCV001018226 |
1013 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000214950 RCV003221869 rs876659757 CA10580784 RCV001351519 |
1014 | G>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002447392 rs876659757 RCV001338400 |
1014 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001806137 RCV001344940 CA8690407 rs769692303 |
1015 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1006002613 RCV000636108 RCV002448972 CA292267527 |
1015 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2061322186 RCV001300206 |
1016 | I>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA194343 RCV000586787 RCV001549276 rs747907706 RCV001262876 RCV000662372 RCV000165849 RCV000231204 |
1017 | P>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042096 rs2061321875 |
1018 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603275556 CA400479903 RCV001018336 RCV001860904 |
1019 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479898 RCV000572403 rs1555572884 RCV001226153 |
1019 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793073 RCV000482641 CA16620511 RCV000569465 RCV000706762 |
1020 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000568293 CA400479890 RCV001858274 rs1555572880 |
1021 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001357266 RCV001775628 RCV000461152 rs587782808 CA169715 RCV000132368 |
1022 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001018403 RCV000234363 rs587782808 CA10583616 |
1022 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457812 CA400479875 RCV000570958 COSM982268 rs147119272 COSM1153118 CA8690405 RCV000662973 |
1024 | G>R | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000693512 CA165398 RCV000129948 rs587781744 RCV001775621 |
1024 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001194736 RCV000540342 RCV002307533 RCV003159788 RCV000584109 rs1342519012 |
1025 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018472 RCV001860911 rs1603275526 CA400479858 |
1025 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189532 rs2061320985 |
1026 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690402 RCV001348972 RCV000573121 rs756712872 |
1026 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297341 RCV000195734 rs863224804 CA335902 |
1027 | E>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000772583 CA400479835 rs863224804 |
1027 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001818520 CA8690401 RCV000484982 rs371185409 RCV000215643 RCV001087512 |
1027 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001194737 rs371185409 RCV001176169 |
1027 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400479818 RCV001860916 rs1060501762 RCV001018531 RCV002271608 |
1028 | N>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA400479817 rs1424179519 RCV000565962 RCV000636059 |
1028 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501762 RCV000458909 CA16615825 |
1028 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002319584 rs1060501762 RCV000806627 CA400479821 |
1028 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000570681 RCV001775889 RCV000688959 rs1187782159 |
1030 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068006 rs767255426 RCV002320343 CA8690397 |
1030 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000520126 RCV000636160 RCV002247565 CA190983 RCV000164450 RCV000409520 rs763162379 RCV000412033 |
1032 | S>R | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs876659119 CA10580783 RCV000217140 |
1033 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000801182 VAR_020907 CA400479749 rs1199923024 |
1034 | P>L | Familial cancer of breast a patient with ovarian cancer; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs765416041 RCV000557006 CA8690395 RCV001764554 RCV000775409 |
1034 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000590794 RCV000410906 rs45437094 RCV001081667 CA163643 RCV001355322 RCV003149886 RCV000412441 RCV001800423 RCV000129008 |
1035 | R>C | Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000781175 CA288579 RCV000662500 RCV000206801 rs367816363 RCV000212333 RCV000116152 |
1035 | R>H | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000563928 rs367816363 RCV001858272 CA400479739 |
1035 | R>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061319540 RCV001312725 |
1038 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227934 rs876659428 RCV001194738 |
1040 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580782 RCV000231036 rs876659428 RCV000218508 |
1040 | K>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479673 RCV000572731 rs1555572833 |
1040 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175823 CA8690394 RCV000989983 RCV000233906 rs761225576 |
1041 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400479665 RCV000564914 RCV001318714 rs1555572831 |
1041 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479645 rs1555572828 RCV000565160 RCV001337211 |
1042 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061318885 RCV001179653 |
1043 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061318961 RCV001204507 |
1043 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537705 rs1555572825 RCV002323944 CA400479634 |
1043 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555572824 RCV000550332 CA400479601 RCV000563297 |
1046 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555572824 RCV000808657 CA400479599 RCV001186860 |
1046 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166612 CA196307 rs786203344 RCV001194739 RCV000636185 |
1047 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs896510433 RCV002322202 RCV001303227 |
1048 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400479551 RCV000776363 rs1567728933 RCV001338644 RCV001759462 |
1050 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3736170 RCV000662424 rs373040333 RCV000129015 RCV000213740 COSM3736169 RCV000197620 CA163667 |
1050 | T>N | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome skin Familial cancer of breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000709531 CA400479552 rs1567728933 |
1050 | T>P | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066891 RCV002320335 CA400479524 rs1285783476 |
1052 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002560092 rs2061318138 RCV001190761 |
1053 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069273 rs1603275438 RCV003142024 |
1056 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400479462 RCV001018893 rs1603275438 |
1056 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061317850 RCV001339642 |
1057 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572464 rs1555572799 |
1058 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061317781 RCV001224194 |
1058 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564229 CA400479429 rs1400975728 |
1059 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001018980 rs1400975728 RCV001860933 CA400479431 |
1059 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000709530 RCV000989982 RCV001567722 RCV000534521 RCV000568104 COSM1384997 CA292267465 rs149016505 COSM1384996 |
1060 | V>I | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA dbSNP gnomAD |
|
CA400479416 rs778430337 RCV000810967 |
1061 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778430337 RCV001039369 RCV002320245 CA8690391 |
1061 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061317245 RCV001185570 |
1061 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690390 RCV000575730 RCV001858368 rs770517912 |
1062 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001194741 RCV000780052 rs575998972 RCV000813309 CA8690389 RCV000216254 |
1063 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001190794 RCV001863026 rs2061317060 |
1063 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615764 RCV000709529 RCV000573965 rs916937983 RCV001556168 RCV000475646 |
1064 | F>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000576714 RCV000220516 RCV000590317 rs730881645 RCV000460746 RCV000993845 |
1066 | S>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400479356 RCV001063963 RCV001019117 rs1567728809 |
1066 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350707 rs1199327421 CA400479359 |
1066 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001187262 RCV001219207 rs1199327421 |
1066 | S>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046541 rs878855153 |
1067 | C>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583614 RCV000231423 RCV001798742 rs878855153 RCV003165648 |
1067 | C>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061316462 RCV001125758 |
1068 | P>L | Fanconi anemia complementation group J [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002322158 RCV001244530 rs2061316417 |
1069 | Q>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552971 rs748598593 RCV001284119 RCV001019231 |
1070 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615485 RCV000459986 RCV000481412 rs777213170 RCV002323711 |
1070 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000775408 RCV001339492 rs756074244 CA8690386 |
1072 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019288 CA400479278 rs786204068 RCV001057016 RCV001844261 |
1072 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001317647 CA334047 rs786204068 RCV000587674 RCV000167953 |
1072 | T>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000458321 RCV000220966 RCV000662888 CA8690384 RCV000254825 rs183928474 |
1075 | S>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV000573382 RCV001342554 rs368867532 CA8690385 |
1075 | S>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000775407 RCV000204843 rs864622113 CA349030 |
1076 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1420431000 RCV000776642 CA400479223 RCV000636085 |
1077 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001850330 CA194731 RCV000165998 rs786202927 |
1078 | K>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447427 CA8690383 RCV001349198 rs570238270 |
1078 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA400479207 rs1603275371 RCV000824586 |
1078 | K>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA165144 RCV000758998 RCV000662741 RCV000129821 RCV000200144 RCV000780068 rs587781666 |
1079 | I>M | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000218787 RCV000204707 RCV000780057 RCV000116154 CA288585 RCV000663136 rs150813402 |
1079 | I>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001019289 RCV001070427 rs1603275367 CA915950687 |
1079 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204230 RCV002321675 RCV001318107 RCV000168373 CA334673 |
1080 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579524 RCV003168480 RCV001030465 RCV000398289 RCV000657450 rs779741278 RCV000576538 RCV001063687 RCV001844126 |
1081 | A>missing | Fanconi anemia complementation group J BRIP1-Related Disorders Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772531 rs1567728640 RCV001869081 CA400479166 |
1081 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603275338 RCV002322241 RCV001321664 |
1082 | T>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550846 rs1603275338 CA400479144 RCV001019418 |
1082 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000773391 rs1567728614 CA400479139 |
1083 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215579 CA10580781 rs876660768 |
1084 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775231 RCV000364269 rs876660768 CA10649748 |
1084 | T>S | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697882 CA400479123 rs1567728589 |
1085 | R>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177925 rs2061314506 |
1085 | R>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771654971 RCV000709528 RCV001203231 RCV000219598 |
1087 | N>missing | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773520 CA400479110 rs1430023275 |
1087 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567728557 RCV001340324 CA400479105 RCV000777508 |
1087 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202024 RCV001762372 CA191419 RCV000164623 RCV000551876 |
1087 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001182858 RCV001047152 rs2061314121 |
1088 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855154 RCV001284120 RCV000564840 RCV000228140 CA10583613 RCV001354748 |
1088 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8690378 RCV001313777 rs764205156 RCV000569744 |
1089 | S>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA349425 COSM1563717 RCV001194752 RCV000568092 RCV000205242 rs761278503 RCV001369002 COSM1563716 |
1089 | S>C | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs761278503 RCV001524710 CA8690377 RCV000471184 |
1089 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000540633 rs776129117 CA8690376 |
1091 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001853871 CA400479084 RCV000580917 rs1555572732 |
1091 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA165900 RCV000662393 rs587780830 RCV001284121 RCV000123358 RCV000130186 RCV000442394 |
1092 | P>L | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000636141 CA400479077 rs587780830 RCV000989981 RCV000709527 RCV000581888 |
1092 | P>Q | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000563698 RCV001251274 CA8690375 rs768065626 RCV000473819 |
1092 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768065626 RCV001238396 |
1092 | P>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217837 CA10580779 rs876660638 |
1093 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400479075 RCV001525074 rs876660638 RCV000808691 RCV003153849 |
1093 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091878 RCV002445379 rs1479296707 CA400479059 |
1095 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001057916 rs2061313248 |
1095 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220039 rs876658746 RCV000701514 RCV000590421 CA10580778 |
1097 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10583612 rs876658746 RCV000584629 RCV000232395 |
1097 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001860956 RCV001019710 rs1603275271 |
1097 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1361161166 RCV001342709 CA400479041 |
1098 | A>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA292267341 RCV001019716 rs1034545913 RCV001873320 |
1098 | A>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000506104 RCV000477468 RCV001357851 CA194298 RCV000165832 rs772709195 |
1099 | L>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189347 rs587781923 RCV001587211 RCV001862993 |
1100 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002267875 RCV000709526 RCV000546539 RCV001284122 CA166081 RCV000989980 rs587781923 RCV000130274 |
1100 | D>N | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs864622072 RCV001367041 RCV000203867 CA348166 |
1100 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227079 rs587781923 |
1100 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350068 rs2061312470 |
1101 | P>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554552 CA8690371 RCV001182277 rs748140041 |
1102 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400479021 rs1350551922 RCV000567090 |
1102 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001567368 RCV000573765 CA16615762 rs781102464 RCV000463699 |
1103 | I>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001019846 CA8690370 rs781102464 |
1103 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA400479014 rs1555572700 RCV000636088 |
1103 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555572698 CA400479008 RCV000636150 |
1104 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065231 rs1555572697 CA400479003 RCV000584290 |
1104 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219320 CA400479005 rs1567728360 RCV000772523 |
1104 | E>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603275236 RCV001019926 CA400478996 RCV001873323 |
1105 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1275343223 RCV000700540 CA400478985 |
1108 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2061311430 RCV001215656 RCV002322045 |
1109 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000775737 RCV000465286 rs1060501774 CA16615821 |
1110 | E>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615483 RCV001181993 RCV000469052 rs1060501742 RCV002466502 |
1110 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501774 RCV001224097 |
1110 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603275210 CA400478959 RCV001020012 |
1111 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204181 RCV000214821 RCV001354313 RCV001194197 RCV000410336 RCV000409119 rs587780248 RCV001762242 RCV000116155 CA288588 |
1111 | E>Q | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2061311057 RCV001039414 |
1111 | E>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221951 RCV001284123 RCV000477261 CA10580777 rs369843642 |
1112 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000475399 rs968860042 RCV002323710 CA16615474 |
1112 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA292267318 RCV000565197 RCV000636089 rs968860042 |
1112 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002322099 RCV001227649 rs2061310712 |
1113 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555572681 RCV000657729 CA400478943 RCV002534259 |
1114 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603275193 CA400478940 RCV001020042 |
1114 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001194753 RCV000562325 CA400478933 rs1419933310 RCV000636178 |
1115 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1419933310 CA400478934 RCV000530731 |
1115 | S>F | Familial cancer of breast Variant assessed as Somatic; 4.633e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567728281 RCV000688353 CA400478936 |
1115 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315566 rs1419933310 CA400478932 RCV002322225 |
1115 | S>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779860140 RCV001293946 RCV000164569 RCV000546751 RCV001559488 CA191292 |
1117 | S>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702483 rs1555572672 CA400478921 RCV000574108 |
1117 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001523996 rs2061310251 RCV001231696 |
1118 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615470 RCV003153616 RCV000466152 rs1060501773 |
1118 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178221 rs2061310147 |
1119 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860971 rs1603275179 RCV001020075 |
1120 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555572663 RCV000636098 CA400478905 |
1120 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020106 RCV000811671 RCV000679784 rs754056526 CA8690368 RCV000478257 |
1123 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001284124 RCV001215436 RCV003155309 rs1426528935 RCV000774184 |
1124 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620510 rs1064793894 RCV000701214 RCV000484914 RCV000570953 |
1124 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020125 RCV000485677 RCV001355547 rs745344948 RCV000168472 |
1125 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212334 RCV000989979 RCV000410562 RCV001080937 RCV001354736 rs145855459 RCV000411633 RCV000116156 RCV000587193 CA288591 |
1126 | E>D | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs45552539 RCV000818513 CA292267292 |
1128 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222155 rs45552539 RCV001179247 |
1128 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603275152 RCV001020156 COSM192623 CA400478841 |
1129 | S>Y | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001228531 rs2061309076 |
1130 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA193321 RCV000165410 rs786202549 |
1130 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
TCGA novel rs2061308845 RCV001052634 RCV002451215 |
1130 | I>M | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000820751 RCV000441972 rs1057522432 CA16607741 RCV000775924 |
1130 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478837 RCV000559311 RCV000569557 rs786202549 RCV002268145 |
1130 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs778664039 RCV000219431 RCV003155931 RCV001804172 RCV000543566 RCV000576546 RCV000396476 RCV000589475 |
1131 | Y>missing | Fanconi anemia complementation group J BRIP1-Related Disorders Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555572645 CA400478812 RCV001020189 RCV000560658 |
1133 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205001 RCV000772027 rs756853672 RCV000732737 |
1134 | P>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795233 rs1603275121 |
1135 | E>DR | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221135 CA400478803 rs1235908208 |
1135 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194754 rs369340444 RCV000581029 CA400478806 |
1135 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs876660100 RCV001175603 RCV001853608 RCV000213148 |
1136 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400478797 RCV000579866 rs1555572626 RCV000636184 |
1136 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061308258 RCV001204817 |
1136 | L>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357702 RCV001064987 rs2061308195 |
1137 | Y>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057518847 RCV003168605 CA16043535 RCV001199372 RCV000414896 RCV000814484 |
1138 | D>G | Fanconi anemia complementation group J Hereditary cancer Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000536947 rs1555572620 |
1138 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459206 CA8690365 rs587780249 RCV000709525 RCV000587926 RCV000223506 |
1138 | D>N | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000580458 rs1057518847 CA400478783 |
1138 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212335 CA288594 rs587780249 RCV000116157 |
1138 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555572620 RCV001190188 RCV000691968 RCV002282331 |
1138 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400478775 rs1555572613 RCV000801887 RCV002305510 RCV000584427 |
1139 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478778 rs1186451404 RCV001873330 RCV001020242 |
1139 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797364 CA292267261 rs1034551306 RCV001187109 |
1141 | D>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1034551306 RCV001181980 |
1141 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1034551306 RCV000524593 CA400478762 |
1141 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001586044 RCV001204261 RCV002451426 rs1279318199 CA400478756 |
1142 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400478746 RCV001347059 rs1315917374 |
1143 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001040017 rs2061307264 |
1143 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210482 CA400478753 rs1217932471 |
1143 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000409113 RCV002466467 RCV000206799 CA350798 rs774605759 RCV000581063 RCV000411587 |
1144 | E>G | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000220940 RCV001824696 rs876660035 CA10580773 |
1145 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537167 RCV000164964 rs786202247 CA192182 |
1146 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002451261 RCV001061610 rs1567727955 |
1146 | K>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695230 CA400478727 rs1567727955 |
1146 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561490 RCV000636076 RCV000657331 rs753683450 |
1147 | N>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563144 rs1258403817 RCV001865711 CA400478723 |
1147 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1603275034 CA400478717 RCV001020317 |
1147 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020320 RCV000120402 RCV000989978 RCV000411479 RCV001535623 RCV003149828 rs28997573 RCV000409042 VAR_052193 CA400478710 RCV000204453 CA157710 RCV000589005 RCV000131003 |
1148 | D>E | Fanconi anemia complementation group J Breast and/or ovarian cancer Familial cancer of breast Neoplasm of ovary Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs2061306531 RCV001037518 |
1148 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002455935 rs1064796059 CA16620508 RCV000479074 RCV001851241 |
1150 | A>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8690363 RCV001320047 rs757363615 RCV001020326 |
1150 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555572587 RCV000636109 CA400478700 RCV001020340 |
1151 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478682 rs1603275027 RCV000814760 |
1153 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002454235 RCV001210225 RCV000989976 CA8690362 rs769359514 RCV001732008 |
1154 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000427270 RCV000820752 rs1057522433 RCV000775895 CA16607403 |
1154 | R>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662347 RCV003150947 RCV001535683 RCV000116158 CA288597 RCV000662581 RCV000200049 rs45603843 |
1155 | G>E | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001020369 CA400478660 rs1603275008 RCV002550858 |
1156 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001370279 CA10580772 RCV000214687 rs876659655 |
1158 | L>W | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860985 RCV001020393 CA400478625 rs368610199 |
1159 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001020394 rs368610199 CA8690359 RCV001873331 |
1159 | A>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs368610199 CA10580771 RCV001762476 RCV000808973 RCV000222116 RCV000521348 |
1159 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2061305104 RCV001046667 |
1160 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194755 rs2061304922 RCV001863071 |
1161 | N>missing | Colorectal cancer Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061304985 RCV001222073 |
1163 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061304701 RCV001239012 |
1164 | C>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347741 rs2061304770 |
1164 | C>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071590 rs771889454 |
1165 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636152 CA8690356 RCV000772628 rs771889454 |
1165 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061304526 RCV001325016 |
1166 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555572570 RCV001342593 |
1167 | A>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571779 RCV001211268 CA400478525 rs1555572570 |
1167 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1259866317 CA400478507 RCV001187746 |
1168 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002455976 RCV000506530 RCV000701820 CA8690355 rs749589266 |
1168 | K>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061304201 RCV001242752 |
1169 | D>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240256 RCV000216628 RCV000255184 rs375741316 CA349272 RCV001762439 RCV000205088 |
1169 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000130477 RCV001582604 rs587782029 RCV000473664 CA166504 RCV001030464 |
1169 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587782552 RCV000131766 RCV001030463 CA168724 RCV000706879 |
1170 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583611 rs878855155 RCV000233067 |
1171 | F>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001226578 rs2061303840 |
1173 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202662 RCV000165581 CA193750 |
1174 | R>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs372799558 RCV001591213 RCV000709524 RCV000525915 CA292267187 RCV000989975 RCV001020519 RCV000780067 |
1175 | T>A | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000357297 RCV000196468 rs777367075 RCV000216896 |
1176 | I>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580510 rs1555572545 |
1176 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061303537 RCV001295613 |
1176 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003106099 RCV001020527 CA400478402 rs756313788 |
1177 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8690354 RCV000692471 RCV001020526 rs756313788 |
1177 | K>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567727749 RCV001191352 RCV000702682 |
1178 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603274934 RCV001020545 |
1178 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577557 rs876661115 RCV002450644 RCV000219880 |
1178 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468712 rs876661115 RCV000566706 CA16615759 |
1178 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794973 CA400478386 rs876661115 |
1178 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567944 CA8690353 rs752850661 RCV000538490 |
1178 | E>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001020548 rs1603274921 |
1179 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061303001 RCV001043372 RCV002339218 |
1180 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400478333 RCV000555654 rs1555572535 RCV000583448 |
1182 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061302714 RCV001179892 |
1183 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400478283 RCV000685900 RCV000700503 rs1567727691 CA400478284 |
1185 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766709841 RCV001560975 RCV000216904 CA8690350 RCV001294767 |
1186 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000709523 RCV000662546 RCV000573454 RCV000226626 rs367610893 CA298847 RCV001192971 RCV000160327 RCV000989974 |
1187 | A>T | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603274878 RCV000801787 CA400478252 |
1187 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061301893 RCV002339330 RCV001065989 |
1188 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370371 CA191159 RCV002510801 rs786201962 RCV000164518 |
1188 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001320795 rs2061301683 RCV002456434 |
1190 | C>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190224 RCV001194756 rs2061301543 RCV001363903 |
1191 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166662 RCV000219026 RCV001798598 RCV000198324 CA196415 RCV000781167 rs761405340 RCV000662435 |
1191 | I>V | Fanconi anemia complementation group J Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000565825 rs1555572525 CA400478193 |
1192 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1368343911 RCV001213140 |
1193 | T>K | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1368343911 RCV002558889 RCV001178754 |
1193 | T>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580546 RCV001247059 rs1555572519 |
1195 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679786 CA165179 rs587781677 RCV000473357 RCV000129837 |
1197 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400478114 RCV001776032 rs1603274842 RCV000817401 RCV002453862 |
1198 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603274834 RCV001020680 CA400478108 |
1199 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853594 rs876659839 CA10580770 RCV000217471 |
1199 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA298850 rs730881628 RCV000160328 RCV001051623 |
1200 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067106 rs2061300384 |
1201 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776010326 RCV000796012 CA400478074 |
1202 | E>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776010326 RCV000165933 RCV000233466 RCV000214877 CA194566 |
1202 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782615 CA169027 RCV000131993 RCV001192823 |
1203 | E>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1345178694 RCV001189008 |
1205 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350613 rs2061299577 |
1206 | I>M | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292267135 rs139539831 RCV001306101 |
1207 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000487009 RCV000689972 RCV000678993 rs760589795 CA16620507 |
1208 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8690347 rs760589795 RCV000540096 |
1208 | D>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001860998 RCV001020751 rs1603274780 CA400477978 |
1209 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020755 RCV000482446 RCV000802727 rs1064794200 |
1210 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231334 rs112214651 CA292267123 |
1210 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696975 RCV000776820 rs1567727439 CA400477949 |
1211 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2061298986 RCV001308652 |
1214 | K>N | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400477908 RCV001020794 rs1567727417 RCV000701257 |
1216 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002222418 rs542698396 RCV000166368 RCV000662837 RCV000586366 RCV000457986 CA195671 |
1217 | W>* | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA165328 rs542698396 RCV000227303 RCV000657056 RCV000989972 RCV000129907 RCV000709522 |
1217 | W>C | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296638 rs2061298543 |
1219 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020812 rs1567727404 CA400477891 RCV000707033 |
1219 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000533428 rs1555572476 CA400477883 |
1220 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042376 rs2061298409 |
1220 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400477885 rs1555572476 RCV000562715 RCV001365383 |
1220 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778805688 RCV000167303 CA197967 RCV001227505 |
1221 | L>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000567587 RCV000546037 RCV000677869 RCV000985640 rs752586524 |
1222 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770175142 CA400477869 RCV000793815 RCV001020834 |
1222 | E>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001298935 rs2061297923 |
1223 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773241 CA8690340 rs781140410 RCV000230422 |
1226 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2061297833 RCV002451672 RCV001301688 |
1227 | H>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636180 rs755069935 CA8690339 RCV000482462 RCV000564305 |
1227 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555572457 RCV000584048 |
1229 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1157058742 CA400477824 RCV000824351 |
1229 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001194760 rs1603274697 RCV001020884 CA400477817 |
1230 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709520 RCV000569978 rs1046992728 CA292267084 RCV000989970 RCV001055410 |
1231 | I>M | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8690337 RCV001313111 RCV003166784 RCV001776186 rs780578438 |
1231 | I>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA400477810 RCV000558507 rs780578438 RCV001020896 |
1231 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000636086 rs876659290 RCV000216449 RCV000989971 RCV000709521 CA10580768 |
1231 | I>V | Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000530158 rs1555572446 CA400477805 |
1232 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501734 RCV000468361 CA16615757 RCV001562522 RCV000574401 |
1233 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1603274686 RCV001020907 |
1234 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778137 RCV000220406 RCV000636173 CA157713 RCV000120403 RCV000767212 |
1234 | F>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10583610 rs878855156 RCV000233279 |
1234 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000771631 CA400477787 rs1567727245 RCV001062051 |
1235 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501771 RCV000477091 CA16615479 |
1236 | P>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781819 COSM1141221 CA165696 COSM562082 RCV001305929 RCV000130095 |
1237 | S>F | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001860262 rs587781819 RCV000606452 CA400477772 |
1237 | S>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603274664 RCV002549529 RCV001020954 |
1238 | P>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1192747697 RCV001211115 |
1238 | P>T | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781886 RCV001849929 RCV000130216 CA165968 |
1239 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA288600 RCV001190860 RCV000116159 RCV001231956 rs587780250 |
1243 | G>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765545033 RCV000459332 CA16615818 RCV002348307 RCV000519725 |
1243 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001020983 rs765545033 CA8690335 |
1243 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000205061 RCV000160359 rs730881646 RCV000217493 |
1244 | M>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470471 RCV001180358 rs1491231712 |
1244 | M>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560935 rs1555572407 RCV000558722 |
1244 | M>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690333 RCV000775404 rs753516000 RCV000690085 |
1244 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001047519 RCV002249653 rs1260819959 CA400477730 |
1244 | M>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001020993 CA8690334 RCV002551833 rs761468878 |
1244 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001262871 RCV000636105 RCV000222505 COSM1710578 CA10580767 COSM1710579 rs876660074 |
1246 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome skin Familial cancer of breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA400477712 rs1196057129 RCV001021008 RCV002549531 |
1247 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002348361 rs2061295225 RCV001043249 |
1248 | F>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8690332 RCV002343240 rs763579793 RCV000636073 |
1248 | F>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001228582 CA400477705 rs1567727102 RCV000679787 |
1248 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658798920 RCV000636176 rs1555572410 RCV000777424 |
1249 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400477687 rs1603274602 RCV000989969 |
1250 | K>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618729 CA400486020 RCV000506482 |
13 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1488264110 CA400486024 |
13 | V>M | No |
ClinGen gnomAD |
|
|
rs1415589484 CA400485985 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400485977 rs876659588 |
19 | Y>* | No |
ClinGen gnomAD |
|
|
CA773832479 rs1406859817 |
22 | Y>* | No |
ClinGen TOPMed |
|
|
CA8691013 rs747867580 |
30 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8690995 rs776386693 |
32 | I>F | No |
ClinGen ExAC |
|
|
RCV000780049 CA400485864 rs876659168 |
35 | G>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA400485857 rs1256465650 |
37 | N>D | No |
ClinGen TOPMed |
|
|
RCV001193530 rs770930270 |
41 | H>D | No |
ClinVar dbSNP |
|
|
CA16620548 RCV000487123 rs1064793071 |
50 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs960787663 CA292281326 |
51 | G>E | No |
ClinGen Ensembl |
|
|
CA8690986 rs751182362 |
53 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1461022839 CA400485741 |
54 | L>V | No |
ClinGen TOPMed |
|
|
rs757909937 CA8690984 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765205377 CA8690982 |
61 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317680188 CA400485595 |
75 | G>S | No |
ClinGen gnomAD |
|
|
CA400485557 rs1327144251 |
80 | A>D | No |
ClinGen gnomAD |
|
|
CA400485558 rs1603366420 |
80 | A>S | No |
ClinGen Ensembl |
|
|
rs1397368808 CA400485554 |
81 | E>K | No |
ClinGen gnomAD |
|
|
rs565078834 CA8690969 |
82 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565078834 CA400485545 |
82 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756707967 CA8690968 |
83 | Q>* | No |
ClinGen ExAC |
|
|
CA400485540 rs1383287302 |
83 | Q>P | No |
ClinGen gnomAD |
|
| rs587781388 | 88 | C>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250665493 CA400485494 |
90 | C>R | No |
ClinGen gnomAD |
|
|
CA400485490 rs1221074399 |
90 | C>Y | No |
ClinGen gnomAD |
|
|
rs1567874779 RCV000708606 |
99 | D>* | No |
ClinVar dbSNP |
|
|
rs773532701 RCV000478481 CA16620546 |
99 | D>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs773532701 CA8690963 |
99 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1425170841 CA400485412 |
101 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA400485401 rs777068696 RCV000657701 |
103 | G>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs876659809 CA400485380 |
107 | H>R | No |
ClinGen TOPMed |
|
|
CA292280539 rs866057691 |
117 | E>G | No |
ClinGen Ensembl |
|
|
CA400485294 rs777630298 |
121 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753965650 CA8690936 |
132 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA400484570 rs1295736478 |
135 | A>G | No |
ClinGen TOPMed |
|
|
RCV000485264 rs1555616185 |
142 | K>missing | No |
ClinVar dbSNP |
|
|
CA400484501 rs1567868598 |
146 | I>L | No |
ClinGen Ensembl |
|
|
rs774677996 CA8690933 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207857968 CA400484459 |
152 | D>H | No |
ClinGen TOPMed |
|
|
CA8690929 rs769364081 |
158 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA400484405 rs1603362575 |
159 | K>R | No |
ClinGen Ensembl |
|
|
rs1330277587 CA400484400 |
160 | R>T | No |
ClinGen gnomAD |
|
|
CA400484374 rs1391690780 |
165 | E>Q | No |
ClinGen gnomAD |
|
|
CA292278242 rs748211848 |
168 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1372901008 CA400483461 |
170 | I>M | No |
ClinGen TOPMed |
|
|
rs546727788 CA8690912 |
175 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8690911 rs746963627 |
176 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs748268716 CA8690907 |
191 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA400483032 rs1429063662 |
192 | T>I | No |
ClinGen gnomAD |
|
|
CA292277717 rs796681126 |
194 | K>N | No |
ClinGen Ensembl |
|
|
CA400482903 rs1484783363 |
201 | K>E | No |
ClinGen gnomAD |
|
|
rs776372251 CA8690901 |
204 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775636640 CA8690899 |
207 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1443511163 CA400482792 |
208 | Q>E | No |
ClinGen TOPMed |
|
|
rs1060501779 RCV000657344 |
212 | G>missing | No |
ClinVar dbSNP |
|
|
rs772140734 CA8690869 |
213 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400485185 rs1357803255 |
220 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766340391 CA8690860 |
231 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs756499865 CA8690850 |
247 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA400484969 rs1156469750 |
254 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754515912 CA8690848 |
257 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555609257 RCV000498236 CA400484941 |
258 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1412610651 CA400484874 |
269 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405765260 CA400484832 |
276 | L>P | No |
ClinGen TOPMed |
|
|
CA16620540 RCV000478559 rs1064795442 |
281 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001260413 rs2078107930 |
292 | F>missing | No |
ClinVar dbSNP |
|
|
RCV001194719 rs2078107772 |
293 | N>K | No |
ClinVar dbSNP |
|
|
CA400484685 rs1242769076 |
299 | M>L | No |
ClinGen gnomAD |
|
|
CA8690837 rs750376292 |
301 | L>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746681841 CA8690822 |
320 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001194720 rs2077992703 |
321 | D>H | No |
ClinVar dbSNP |
|
| TCGA novel | 324 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16620539 RCV000482006 rs1064794046 |
326 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001194723 rs2077991975 |
327 | T>S | No |
ClinVar dbSNP |
|
|
rs587782771 CA400484161 |
331 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8690819 rs757196702 |
333 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1430929794 CA400484128 |
336 | D>A | No |
ClinGen gnomAD |
|
|
rs1214800958 CA400484131 |
336 | D>Y | No |
ClinGen TOPMed |
|
|
rs777653224 CA8690817 |
338 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400484045 rs1184306036 |
349 | A>G | No |
ClinGen gnomAD |
|
|
rs775191379 CA8690808 |
358 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1158711504 CA400483989 |
359 | I>V | No |
ClinGen gnomAD |
|
|
rs1060501741 RCV001194728 |
381 | M>R | No |
ClinVar dbSNP |
|
| TCGA novel | 408 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372635508 CA400483637 |
411 | T>K | No |
ClinGen gnomAD |
|
|
rs1396705621 CA400483642 |
411 | T>P | No |
ClinGen gnomAD |
|
|
CA8690770 rs768633507 |
422 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA400483542 RCV000781169 rs1567829202 |
426 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1352266926 CA400483468 |
435 | H>Q | No |
ClinGen gnomAD |
|
|
rs1064795413 RCV000479813 |
438 | L>missing | No |
ClinVar dbSNP |
|
|
rs756119073 CA8690765 |
438 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1567828971 RCV000723256 |
442 | C>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 445 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379791142 CA400482269 |
456 | L>F | No |
ClinGen gnomAD |
|
|
RCV001194746 rs1555605947 |
456 | L>P | No |
ClinVar dbSNP |
|
| TCGA novel | 457 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199869583 CA400482248 |
460 | D>N | No |
ClinGen gnomAD |
|
|
RCV000482651 rs1064794073 |
461 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1389470069 CA400482123 |
477 | L>V | No |
ClinGen TOPMed |
|
|
CA400482066 rs1190796460 |
486 | T>A | No |
ClinGen gnomAD |
|
|
rs1237035767 CA400482051 |
488 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8690720 rs536081549 |
495 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310324883 CA400481378 |
503 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA400481379 rs1310324883 |
503 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001194749 rs2077671480 |
504 | I>F | No |
ClinVar dbSNP |
|
| rs775735278 | 504 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775735278 | 504 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400481273 rs1418736430 |
511 | E>D | No |
ClinGen gnomAD |
|
|
rs757629526 CA8690715 |
520 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA292283055 rs748962730 |
528 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA400481041 rs1326418771 |
530 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 531 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292283045 rs56024614 |
535 | D>E | No |
ClinGen Ensembl |
|
|
rs199616792 CA8690712 |
539 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400480522 RCV001194761 RCV000781185 rs1567813893 |
554 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA400480466 rs1374464175 |
562 | I>M | No |
ClinGen gnomAD |
|
|
rs1259933364 CA400480421 |
569 | G>W | No |
ClinGen TOPMed |
|
| rs587778131 | 576 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000120391 rs587778132 CA157679 |
576 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746494295 CA8690679 |
580 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs750288231 CA8690677 |
582 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1567813429 CA400480320 |
586 | V>F | No |
ClinGen Ensembl |
|
|
CA400480304 rs1442606786 |
589 | L>V | No |
ClinGen TOPMed |
|
|
rs751667661 CA8690672 |
597 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs771672834 | 599 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000758991 rs770750488 CA8690642 |
602 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 606 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112505689 CA292281937 |
608 | Q>R | No |
ClinGen Ensembl |
|
|
rs749200646 CA8690641 |
610 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1464898721 RCV001175602 |
612 | L>F | No |
ClinVar dbSNP |
|
|
CA400480140 rs864622345 |
613 | T>R | No |
ClinGen TOPMed |
|
|
CA8690638 rs765314472 |
633 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292281891 rs541203428 |
637 | A>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 642 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778867622 CA8690617 |
651 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 656 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322017079 CA400478538 |
656 | K>T | No |
ClinGen TOPMed |
|
|
CA400478476 rs1160736353 |
661 | C>S | No |
ClinGen gnomAD |
|
|
CA400478470 rs571340013 |
662 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA292280846 rs876659106 |
666 | N>K | No |
ClinGen Ensembl |
|
|
rs762535496 CA8690607 |
670 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA400478030 rs1465283737 |
694 | F>V | No |
ClinGen gnomAD |
|
|
rs1567808635 CA400477973 RCV000759705 |
698 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876658270 CA16607410 RCV000423786 |
701 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8690589 rs756412722 |
703 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs2077034373 RCV001194767 |
706 | E>A | No |
ClinVar dbSNP |
|
|
CA292269270 rs768393936 |
710 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248938894 CA400483248 |
711 | T>I | No |
ClinGen TOPMed |
|
|
CA400483200 rs1060501745 |
716 | N>H | No |
ClinGen TOPMed |
|
|
CA8690582 rs774478325 |
718 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001194771 rs771122056 |
719 | L>V | No |
ClinVar dbSNP |
|
|
RCV001194772 rs878855146 |
720 | V>missing | No |
ClinVar dbSNP |
|
|
rs1312043643 CA400483111 |
724 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 725 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8690577 rs769797684 |
727 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16620522 RCV000484955 rs769797684 |
727 | P>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 734 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755361298 CA8690573 |
737 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8690570 rs750033391 |
743 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA400482743 rs1213182039 |
757 | L>P | No |
ClinGen gnomAD |
|
|
rs1192826909 CA400482741 |
758 | V>I | No |
ClinGen TOPMed |
|
|
rs371227751 CA292268922 |
766 | S>G | No |
ClinGen Ensembl |
|
|
rs1298345650 CA400482654 |
771 | F>L | No |
ClinGen gnomAD |
|
|
rs1462414397 CA400482633 |
775 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 783 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 787 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289778155 CA400482535 |
791 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400479842 rs1486758464 |
795 | E>D | No |
ClinGen gnomAD |
|
|
rs1567755959 CA919872908 |
800 | Y>* | No |
ClinGen Ensembl |
|
|
CA400479781 rs1408016407 |
801 | N>H | No |
ClinGen TOPMed |
|
|
CA400479747 rs1386234504 |
803 | H>L | No |
ClinGen gnomAD |
|
|
CA400479744 rs1386234504 |
803 | H>P | No |
ClinGen gnomAD |
|
|
rs747622456 CA8690530 |
806 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781153382 CA8690529 |
808 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 810 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400479640 rs1205831534 |
811 | L>P | No |
ClinGen TOPMed |
|
|
rs779915262 CA8690526 |
812 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1282067719 CA400479593 |
815 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 816 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45479297 CA292261339 |
823 | R>M | No |
ClinGen Ensembl |
|
|
CA292270141 VAR_020904 rs4988355 |
832 | C>Y | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA8690493 rs746492294 |
835 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA8690491 rs771929845 |
837 | N>H | No |
ClinGen ExAC |
|
|
rs1412270207 CA400482451 |
840 | G>R | No |
ClinGen Ensembl |
|
|
rs1281537935 CA400482431 |
843 | I>M | No |
ClinGen gnomAD |
|
|
rs1348994568 CA400482375 |
853 | P>T | No |
ClinGen Ensembl |
|
|
CA8690471 rs747213803 |
867 | Q>R | No |
ClinGen ExAC |
|
|
RCV001194714 rs2061361150 |
869 | Q>H | No |
ClinVar dbSNP |
|
|
CA400481941 rs199721657 |
871 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400481895 rs1202665874 |
879 | E>A | No |
ClinGen gnomAD |
|
|
CA400481892 CA400481891 rs4986765 |
879 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400481885 rs1217852974 |
880 | S>F | No |
ClinGen gnomAD |
|
|
CA288564 rs587780243 RCV000116147 |
884 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA292268174 rs902432731 |
890 | K>I | No |
ClinGen Ensembl |
|
|
RCV000503950 CA400481765 rs1555573437 |
895 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8690464 rs752340544 |
898 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA400481714 rs1359809807 |
900 | T>S | No |
ClinGen gnomAD |
|
|
rs759080195 CA8690463 |
906 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs571949350 CA292268129 |
912 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1028504408 COSM1479820 COSM437063 CA292268126 |
913 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1555573382 RCV001194715 |
913 | S>P | No |
ClinVar dbSNP |
|
|
RCV001284116 rs2061356129 |
915 | K>N | No |
ClinVar dbSNP |
|
|
RCV000160323 rs587781298 CA298835 |
918 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs4986764 CA400481600 |
919 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400481599 rs4986764 |
919 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001171423 rs587782410 |
922 | L>S | No |
ClinVar dbSNP |
|
|
CA298838 RCV000160324 rs730881625 |
924 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1567731533 CA400481565 |
924 | E>V | No |
ClinGen Ensembl |
|
|
CA8690456 rs745940032 |
931 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA400481426 rs1401830781 |
943 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 948 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 950 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587780245 CA288573 RCV000116150 |
953 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA292268045 rs74824981 |
956 | S>P | No |
ClinGen Ensembl |
|
|
CA292268028 rs113697814 |
965 | R>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000116151 rs587780246 CA288576 |
978 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781622986 CA8690421 |
980 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs774684620 | 983 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603275660 RCV001194735 |
987 | R>G | No |
ClinVar dbSNP |
|
|
RCV000480248 rs1064794668 |
992 | T>missing | No |
ClinVar dbSNP |
|
|
rs1276811545 CA400480630 RCV000507744 |
992 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8690412 rs753664225 |
1002 | W>* | No |
ClinGen ExAC |
|
| TCGA novel | 1003 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8690409 rs766562396 |
1004 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8690408 rs587781328 |
1009 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs868277916 CA292267525 |
1017 | P>S | No |
ClinGen Ensembl |
|
|
CA8690406 rs747345595 |
1023 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA400479831 rs777660106 |
1027 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8690399 rs755949409 |
1029 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8690396 rs767255426 |
1030 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1036 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1040 | K>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8690393 rs776002434 |
1042 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1344938745 CA400479636 |
1043 | S>G | No |
ClinGen TOPMed |
|
|
CA292267473 rs896510433 |
1048 | P>R | No |
ClinGen Ensembl |
|
|
rs772507914 CA8690392 |
1049 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1055 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292267466 rs951001849 |
1057 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1062 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490736110 CA400479368 |
1065 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1069 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777213170 CA8690388 |
1070 | S>L | No |
ClinGen ExAC |
|
| TCGA novel | 1074 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219988835 CA400479255 |
1074 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1075 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555572749 RCV000589375 CA400479154 |
1081 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1090 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400479080 rs1281827397 |
1091 | H>Q | No |
ClinGen TOPMed |
|
|
CA8690373 rs770509300 |
1097 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555572707 RCV000657405 |
1098 | A>missing | No |
ClinVar dbSNP |
|
|
CA292267323 rs111943191 |
1106 | S>P | No |
ClinGen Ensembl |
|
|
CA16620509 RCV000485098 rs1064796566 |
1125 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1128 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868546317 CA292267289 |
1128 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1129 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400478829 rs1567728145 |
1131 | Y>C | No |
ClinGen Ensembl |
|
|
rs866610891 CA292267279 |
1134 | P>S | No |
ClinGen Ensembl |
|
|
rs369340444 CA8690366 |
1135 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400478780 rs1186451404 |
1139 | P>T | No |
ClinGen gnomAD |
|
|
RCV001194198 rs2061307605 |
1142 | T>A | No |
ClinVar dbSNP |
|
|
rs1279318199 CA400478755 |
1142 | T>K | No |
ClinGen gnomAD |
|
|
rs1279870189 CA400478745 |
1144 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1378029485 CA400478737 |
1145 | E>K | No |
ClinGen gnomAD |
|
| rs753683450 | 1147 | N>K | Variant assessed as Somatic; 0.0006828 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs4987050 CA400478679 |
1153 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776599258 CA8690360 |
1157 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1167 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781289228 CA8690352 |
1179 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1443889417 CA400478338 |
1181 | S>* | No |
ClinGen gnomAD |
|
|
rs763298204 CA8690349 |
1186 | K>R | No |
ClinGen ExAC |
|
|
rs1368343911 CA400478177 |
1193 | T>I | No |
ClinGen gnomAD |
|
|
rs1603274852 CA400478142 |
1196 | N>S | No |
ClinGen Ensembl |
|
|
CA400478094 rs1441586932 |
1200 | H>Q | No |
ClinGen gnomAD |
|
|
rs1396175226 COSM1141222 COSM562081 CA400478089 |
1201 | I>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA400478065 rs1285317687 |
1203 | E>K | No |
ClinGen gnomAD |
|
|
rs1403310555 CA400478054 |
1203 | E>V | No |
ClinGen gnomAD |
|
|
CA292267138 rs941141257 |
1204 | S>R | No |
ClinGen Ensembl |
|
|
rs1345178694 CA400478031 |
1205 | K>E | No |
ClinGen gnomAD |
|
|
rs768156067 CA8690348 |
1205 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA400477986 rs1223419621 |
1208 | D>V | No |
ClinGen gnomAD |
|
|
rs771805501 CA8690345 |
1215 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001194759 rs2061298344 |
1221 | L>V | No |
ClinVar dbSNP |
|
|
rs1170304369 CA400477868 |
1222 | E>D | No |
ClinGen gnomAD |
|
|
CA8690343 rs770175142 |
1222 | E>G | No |
ClinGen ExAC |
|
|
rs748310432 CA8690341 |
1223 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1224 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1228 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400477783 rs1432536152 |
1235 | K>I | No |
ClinGen gnomAD |
|
|
RCV000985641 rs1265133595 CA400477776 |
1236 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA400477768 rs1192747697 |
1238 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs929857537 CA292267066 |
1239 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1242 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555572426 CA658798921 |
1243 | G>VL | No |
ClinGen Ensembl |
2 associated diseases with Q9BX63
[MIM: 114480]: Breast cancer (BC)
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 609054]: Fanconi anemia complementation group J (FANCJ)
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:16116423, ECO:0000269|PubMed:16116424, ECO:0000269|PubMed:20639400}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:16116423, ECO:0000269|PubMed:16116424, ECO:0000269|PubMed:20639400}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q9BX63
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase-like, DEXD box c2 type | 13 - 437 | IPR006554 |
| domain | ATP-dependent helicase, C-terminal | 680 - 866 | IPR006555 |
| domain | RAD3-like helicase, DEAD | 248 - 415 | IPR010614 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 17 - 441 | IPR014001 |
| domain | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type | 11 - 442 | IPR014013 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| BRCA1-B complex | A protein complex that contains the BRCA1-BARD1 heterodimer, BACH1 and TopBP1, and binds to DNA during S phase at DNA damage sites. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| 5'-3' DNA helicase activity | Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| metal ion binding | Binding to a metal ion. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to angiotensin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to vitamin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. |
| chiasma assembly | The cell cycle process in which a connection between chromatids assembles, indicating where an exchange of homologous segments has taken place by the crossing-over of non-sister chromatids. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| double-strand break repair involved in meiotic recombination | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix that contributes to reciprocal meiotic recombination. |
| homologous recombination | A DNA recombination process that results in the exchange of an equal amount of genetic material between highly homologous DNA molecules. |
| meiotic DNA double-strand break processing involved in reciprocal meiotic recombination | The cell cycle process in which the 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang occurs resulting in double strand break formation and repair through a double Holliday junction intermediate. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| seminiferous tubule development | The reproductive developmental process whose specific outcome is the progression of the seminiferous tubule over time, from its formation to the mature structure. Seminiferous tubules are ducts located in the testicles, and are the specific location of meiosis, and the subsequent creation of gametes, namely spermatozoa. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
| spermatogonial cell division | The mitotic divisions of the primary spermatogonial cell (a primordial male germ cell) to form secondary spermatogonia (primary spermatocytes). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSMWSEYTI | GGVKIYFPYK | AYPSQLAMMN | SILRGLNSKQ | HCLLESPTGS | GKSLALLCSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAWQQSLSGK | PADEGVSEKA | EVQLSCCCAC | HSKDFTNNDM | NQGTSRHFNY | PSTPPSERNG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TSSTCQDSPE | KTTLAAKLSA | KKQASIYRDE | NDDFQVEKKR | IRPLETTQQI | RKRHCFGTEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HNLDAKVDSG | KTVKLNSPLE | KINSFSPQKP | PGHCSRCCCS | TKQGNSQESS | NTIKKDHTGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SKIPKIYFGT | RTHKQIAQIT | RELRRTAYSG | VPMTILSSRD | HTCVHPEVVG | NFNRNEKCME |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLDGKNGKSC | YFYHGVHKIS | DQHTLQTFQG | MCKAWDIEEL | VSLGKKLKAC | PYYTARELIQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DADIIFCPYN | YLLDAQIRES | MDLNLKEQVV | ILDEAHNIED | CARESASYSV | TEVQLRFARD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELDSMVNNNI | RKKDHEPLRA | VCCSLINWLE | ANAEYLVERD | YESACKIWSG | NEMLLTLHKM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GITTATFPIL | QGHFSAVLQK | EEKISPIYGK | EEAREVPVIS | ASTQIMLKGL | FMVLDYLFRQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NSRFADDYKI | AIQQTYSWTN | QIDISDKNGL | LVLPKNKKRS | RQKTAVHVLN | FWCLNPAVAF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SDINGKVQTI | VLTSGTLSPM | KSFSSELGVT | FTIQLEANHI | IKNSQVWVGT | IGSGPKGRNL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CATFQNTETF | EFQDEVGALL | LSVCQTVSQG | ILCFLPSYKL | LEKLKERWLS | TGLWHNLELV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KTVIVEPQGG | EKTNFDELLQ | VYYDAIKYKG | EKDGALLVAV | CRGKVSEGLD | FSDDNARAVI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TIGIPFPNVK | DLQVELKRQY | NDHHSKLRGL | LPGRQWYEIQ | AYRALNQALG | RCIRHRNDWG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ALILVDDRFR | NNPSRYISGL | SKWVRQQIQH | HSTFESALES | LAEFSKKHQK | VLNVSIKDRT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NIQDNESTLE | VTSLKYSTSP | YLLEAASHLS | PENFVEDEAK | ICVQELQCPK | IITKNSPLPS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SIISRKEKND | PVFLEEAGKA | EKIVISRSTS | PTFNKQTKRV | SWSSFNSLGQ | YFTGKIPKAT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PELGSSENSA | SSPPRFKTEK | MESKTVLPFT | DKCESSNLTV | NTSFGSCPQS | ETIISSLKID |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ATLTRKNHSE | HPLCSEEALD | PDIELSLVSE | EDKQSTSNRD | FETEAEDESI | YFTPELYDPE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| DTDEEKNDLA | ETDRGNRLAN | NSDCILAKDL | FEIRTIKEVD | SAREVKAEDC | IDTKLNGILH |
| 1210 | 1220 | 1230 | 1240 | ||
| IEESKIDDID | GNVKTTWINE | LELGKTHEIE | IKNFKPSPSK | NKGMFPGFK |