BRCA1 — 10998 ClinVar variants

All ClinVar germline BRCA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4306 flagged for review →

2431 Pathogenic · 191 Pathogenic/Likely pathogenic · 225 Likely pathogenic · 2626 Conflicting · 714 Benign · 86 Benign/Likely benign · 2429 Likely benign · 2296 Uncertain significance

Full BRCA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 4306

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 23

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

BRCA1 p.Arg1495Thr Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp1778Asn Pathogenic Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Glu1559Lys Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1623Gly Pathogenic/Likely pathogenic Multiple submitters
Inherited ovarian cancer (without breast cancer)
BRCA1 p.Ala1823Ser Pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1823Thr Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1495Lys Pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1495Met Pathogenic Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp1692Asn Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1818Gly Pathogenic/Likely pathogenic Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Glu1559Gln Pathogenic/Likely pathogenic Multiple submitters
Inherited breast cancer and ovarian cancer
BRCA1 p.Gly1803Ala Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Met1411Thr Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Pro1812Ala Pathogenic/Likely pathogenic Multiple submitters
Fanconi anemia, complementation group S
BRCA1 p.Ala1823Pro Likely pathogenic Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1830Ser Likely pathogenic Single submitter
ovarian cancer
BRCA1 p.Asp1441Asn Likely pathogenic Single submitter
BRCA1 p.Asp1778Tyr Likely pathogenic Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu1682Val Likely pathogenic Single submitter
hereditary neoplastic syndrome
BRCA1 p.His318Leu Likely pathogenic Single submitter
ovarian cancer
BRCA1 p.Met1663Arg Likely pathogenic Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Met1775Val Likely pathogenic Single submitter
hereditary neoplastic syndrome
BRCA1 p.Phe1695Val Pathogenic No assertion criteria
breast-ovarian cancer, familial, susceptibility to, 1

Predictors agree, ClinVar conflicts 1858

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 1858

BRCA1 p.Ala1039Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1070Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1082Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1082Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1142Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1142Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1166Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1175Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1175Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1206Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1206Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1248Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1277Val Conflicting Single submitter
BRCA1-related cancer predisposition
BRCA1 p.Ala1279Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1279Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1279Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1293Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1293Pro Conflicting Single submitter
BRCA1-related cancer predisposition
BRCA1 p.Ala1293Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1293Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1611Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1615Pro Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1615Thr Conflicting Single submitter
hereditary breast carcinoma
BRCA1 p.Ala1616Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1617Thr Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1627Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1708Val Conflicting Single submitter
BRCA1-related cancer predisposition
BRCA1 p.Ala1843Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala1843Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala221Ser Conflicting Single submitter
Inherited breast cancer and ovarian cancer
BRCA1 p.Ala253Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala253Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala253Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala254Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala302Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala314Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala322Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala344Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala344Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala344Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala344Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala407Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala410Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala410Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala433Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala439Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala439Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala439Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala439Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala469Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala469Thr Conflicting Single submitter
Fanconi anemia, complementation group S
BRCA1 p.Ala485Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala485Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala485Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala521Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala521Thr Conflicting Single submitter
BRCA1-related cancer predisposition
BRCA1 p.Ala521Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala524Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala524Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala524Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala579Pro Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala584Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala5Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala605Glu Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala605Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala605Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala622Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala622Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala675Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala675Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala678Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala705Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala705Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala744Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala744Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala744Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala794Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala794Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala806Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala806Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala807Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala807Ser Conflicting Single submitter
Fanconi anemia, complementation group S
BRCA1 p.Ala807Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala854Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala854Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala854Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala878Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala878Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala883Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala883Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala942Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala942Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Ala942Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1012Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1012Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1012Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1012Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1028Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1074Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1076Lys Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg1076Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1203Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1204Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1204Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1243Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1347Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1443Gln Conflicting Single submitter
familial pancreatic carcinoma
BRCA1 p.Arg1443Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1583Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1589Cys Conflicting Single submitter
Fanconi anemia, complementation group S
BRCA1 p.Arg1634Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1645Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1645Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg166Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg170Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1726Gly Conflicting Single submitter
Breast and/or ovarian cancer
BRCA1 p.Arg1753Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1758Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1762Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg1762Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg1835Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg213Lys Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg252Cys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg252His Conflicting Single submitter
Inherited ovarian cancer (without breast cancer)
BRCA1 p.Arg256Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg256Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg315Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg315Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg315Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg331Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg332Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg332Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg350Ile Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg350Lys Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg350Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg365Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg365Ile Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg365Lys Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg365Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg446Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg446Ile Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg466Gln Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg466Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg496Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg496Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg507Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg610Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg613Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg618Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Arg618Ser Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 16

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

BRCA1 c.301+1G>A Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 c.301+1G>C Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 c.301+1G>T Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 c.4097-2A>C Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 c.4186-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 c.593+1G>A Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 c.594-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 c.670+1G>A Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 c.671-1G>C Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 c.671-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 c.671-2A>G Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala224fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Gln148Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRCA1 p.Leu1854fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA1 p.Lys222Ter Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Pro209fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome

Predictors lean, ClinVar uncertain 1331

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1331

BRCA1 p.Ala1752Thr Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Arg1699Pro Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Gly1788Asp Uncertain significance Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Leu1404Arg Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Leu28Pro Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Phe1668Ser Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser1722Tyr Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser1841Asn Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Trp1718Ser Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ala102Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala102Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1248Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala134Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala134Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1368Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1368Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1369Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1412Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1416Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1438Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1453Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1453Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1453Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1453Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1474Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1481Thr Uncertain significance Multiple submitters
BRCA1-related disorder
BRCA1 p.Ala1481Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1588Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1599Thr Uncertain significance Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Ala1599Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1608Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1608Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1615Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1616Pro Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1617Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1617Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1623Thr Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1623Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1627Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1627Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1641Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ala1752Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala17Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala194Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala194Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala221Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala224Thr Uncertain significance Multiple submitters
Breast and/or ovarian cancer
BRCA1 p.Ala807Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala807Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala887Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala927Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala92Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1028Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg1397Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1507Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1507Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg1555Lys Uncertain significance Multiple submitters
pancreatic cancer, susceptibility to, 4
BRCA1 p.Arg1583Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1583Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg163Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg1649Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg166Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg213Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg762Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg7Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1002Ser Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asn103Ser Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asn112Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn112Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn113Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn113Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn113Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1444His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn1468Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1468Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1519Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn1521Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn158His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn16Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1742Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1745Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn1774His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn1819Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn192Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn298Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn343Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asn550Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn569Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn682Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn743Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1065Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp120Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp120Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1390Asn Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp1390Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp1398Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1398Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1398Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1435Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1482Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1482Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1482Gly Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp1533Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1533Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1533Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp1557Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1557Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1557Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1573His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp1582Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1582Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1621Ala Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp1621Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1757Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1778Glu Uncertain significance Multiple submitters
Breast and/or ovarian cancer
BRCA1 p.Asp1840Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp201Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp214Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp214Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp219His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp219Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp219Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp397Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp821Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Cys1372Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Cys1372Phe Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Cys1501Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys1501Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys1513Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys1697Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys1767Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys91Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys953Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1069Glu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1118Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1182Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1388Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1395Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln139Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1401His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1401Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1408Arg Uncertain significance Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Gln1409Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1420Glu Uncertain significance Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Gln1458Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1467Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln148Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1518Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1518Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1518His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome

Predictors split 1078

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 1078

BRCA1 p.Ala280Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg170Trp Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg1751Gln Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg504His Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg612Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg762Ser Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg841Trp Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg866Cys Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Arg866His Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asn132Lys Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asn810Tyr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp1733Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp642His Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp67Tyr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp96Asn Likely pathogenic Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Glu1038Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu1214Lys Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu1731Lys Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Gly1048Val Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Gly275Asp Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Gly275Ser Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.His1686Tyr Likely pathogenic Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ile1044Val Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Leu1664Pro Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Leu1844Arg Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Leu512Phe Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Leu668Phe Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Lys45Gln Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Lys862Glu Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Met1775Arg Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Met1775Lys Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Pro1150Ser Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser1140Gly Benign Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser1387Pro Likely benign Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser1512Ile Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser1715Cys Likely pathogenic Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser1841Thr Uncertain significance Expert panel
BRCA1-related cancer predisposition
BRCA1 p.Ser186Tyr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser316Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser387Thr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser643Gly Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ser784Leu Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Thr1685Ala Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Thr276Arg Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Thr539Met Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Tyr179Cys Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Tyr856His Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Val1804Asp Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1416Gly Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Ala1616Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1669Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1693Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1752Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1814Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala1830Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala433Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ala92Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg131Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1397Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1645Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg1751Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Arg1835Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Arg610Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asn112Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1398Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1475Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1533Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1557Tyr Uncertain significance Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Asp1733Asn Uncertain significance Multiple submitters
Fanconi anemia, complementation group S
BRCA1 p.Asp1813His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp1813Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp185Asn Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Asp189Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp214Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Asp67Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp96Gly Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Asp96Val Pathogenic/Likely pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Cys1767Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Cys1768Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Cys1768Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Gln1227Leu Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Gln126Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1388Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1388His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1396Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1409His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1721Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA1 p.Gln1811Arg Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln1857His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln81Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gln94His Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Glu10Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu1375Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu1683Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu1725Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu1754Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu1781Lys Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu181Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Glu188Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu188Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu577Asp Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRCA1 p.Glu75Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Glu84Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Glu85Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly129Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly129Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly1422Glu Uncertain significance Multiple submitters
BRCA1-related cancer predisposition
BRCA1 p.Gly1560Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly1567Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly1567Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly1763Ala Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA1 p.Gly1763Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Gly1763Glu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.His1402Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.His1421Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.His1746Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ile1391Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ile1723Thr Likely benign Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ile1807Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ile1858Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ile379Met Benign/Likely benign Multiple submitters
Inherited breast cancer and ovarian cancer
BRCA1 p.Ile460Met Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu1154Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu137Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu1385Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1392Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1407Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1414Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1418Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1547Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu1605Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu165Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu182Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu182Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu1850Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu291Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu726Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Leu785Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu852Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Leu99Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Lys109Glu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Lys168Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Met1411Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Phe1571Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Phe1668Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Phe1704Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Pro1856Ser Likely benign Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Pro985Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA1 p.Ser104Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA1 p.Ser1125Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome

All BRCA1 variants

Pathogenic 2431

Showing the top 300 by review status; the full set is in the sitemap.

c.135-1G>T Expert panel BRCA1-related cancer predisposition
c.212+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+3A>G Expert panel BRCA1-related cancer predisposition
c.213-12A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.302-1G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.302-2del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4097-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4097-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2_4185+22delinsA Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-1787_4358-1668dup Expert panel BRCA1-related cancer predisposition
c.4357+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358_4484del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+2T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-22_442-13del Expert panel BRCA1-related cancer predisposition
c.4484+1del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+3A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+6T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+2T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5152+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5152+3A>C Expert panel BRCA1-related cancer predisposition
c.5152+6T>C Expert panel BRCA1-related cancer predisposition
c.5153-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5153-1G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5155dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-12G>A Expert panel BRCA1-related cancer predisposition
c.5277+1_5277+6del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5277+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5278-2del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5331_5332+1delinsCAACAT Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5332+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5333-36_5406+400del Expert panel BRCA1-related cancer predisposition
c.5468-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.547+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.547+2T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5470_5477del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.80+4A>T Expert panel BRCA1-related cancer predisposition
c.81-9C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
n.5274delG Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1039fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1070delinsValLeuMetLysTrpAlaProValLeuMetLysTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1082_Met1083insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1142fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1166fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1199fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1206fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1279_Ser1280insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1279fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1293fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala134fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1615fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1627fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1641fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1669fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1708fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1708Glu Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1789fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1823fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala302_Glu303insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala302fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala322fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala407fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala433fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala439_Leu440insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala469fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala521_Asp522delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala521Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala524fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala605fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala794fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala807fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala854fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala883fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala887fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala927fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala92fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1076Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1085_Leu1086insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1203Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg131Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg133fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1347fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg136fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1443Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1495fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1495Thr Expert panel breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Arg1583fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1589fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1634fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg163fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg163Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1649fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1670fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1699Gln Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1699Trp Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1726fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1737fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1737Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1744fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1751Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1753fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1762fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1835fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1835Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg296fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg296Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg315fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg350fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg365Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg446fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg504_Lys505insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg504fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg506fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg507fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg507Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg610_Leu611insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg613fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg618fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg629fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg629Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg691_His692insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg691fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg71fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg71Gly Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg78fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg7fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg823fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg951fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg951Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg959fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1002_Phe1003insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1002fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1016fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1029fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1043fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1045fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1052fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn106fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1121fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1121Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn112fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1132_Leu1133insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1132fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1168_Asp1169insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1168fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1215fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1236fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1255fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1259fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1265fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1272Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1309fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1311fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1354fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1355fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1364_Leu1365insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn13fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1403_Leu1404insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1444fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn144fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1468fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1488fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1592fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1647fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1678_Leu1679insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn16fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1745fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1774fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn235fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn244delinsSerAsnLysTyrTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn244fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn277fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn277Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn319fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn329fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn363fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn376fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn383fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn417fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn473fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn500_Lys501insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn500fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn537fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn542fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn550fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn567fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn602fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn635_Cys636insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn665fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn682Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn714fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn723fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn742fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn742Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn799fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn810fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn859fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn877fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn909fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn916fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn916Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn941fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn961fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn969fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn976fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn997fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1131fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1151fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1151Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1155fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1156fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1162fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1169fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1220fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1305_Leu1306insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1362fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1390fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1398fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1506fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1692fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1692His Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1739fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1778Asn Expert panel BRCA1-related cancer predisposition ⚠
p.Asp1851fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp245_Leu246insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp295fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp396fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp397fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp411delinsSerTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp411fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp414fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp430fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp642Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp693fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp746fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp821fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp825fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp853Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1103_Lys1104insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1103Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1146fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1225fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1251Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1270Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1300_Ser1301insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1372_Glu1373delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1372fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1372Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1382Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1501Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1697_Glu1698delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1697Arg Expert panel BRCA1-related cancer predisposition
p.Cys1767fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1767Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1768fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1787_Gly1788delinsSerAsp Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1787fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1787Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1828_Glu1829delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1847Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys226fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys226Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys24fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys24Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys27_Lys45delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys274Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys328_Asn329insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys328_Asp330delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys348_Glu349delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys348Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys360_Ser361insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys360Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys39_Asp40delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys39Arg Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys442Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys44fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys44Phe Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys44Tyr Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys47fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys47Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys47Tyr Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys61fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys61Gly Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys636fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys644fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys64fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys64Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys64Tyr Expert panel BRCA1-related cancer predisposition
p.Cys712fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys801fs Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys801Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys882_Ala883delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 1

Pathogenic/Likely pathogenic 191

c.134+1G>C Multiple submitters hereditary neoplastic syndrome
c.134+1G>T Multiple submitters hereditary neoplastic syndrome
c.134+3_134+6del Multiple submitters hereditary neoplastic syndrome
c.134+5G>A Multiple submitters hereditary breast carcinoma
c.134+5G>C Multiple submitters hereditary neoplastic syndrome
c.135-1G>A Multiple submitters Inherited ovarian cancer (without breast cancer)
c.212+2T>C Multiple submitters hereditary neoplastic syndrome
c.213-5T>A Multiple submitters hereditary neoplastic syndrome
c.302-1G>A Multiple submitters hereditary neoplastic syndrome
c.302-1G>T Multiple submitters hereditary neoplastic syndrome
c.302-2A>C Multiple submitters hereditary neoplastic syndrome
c.302-2A>G Multiple submitters hereditary neoplastic syndrome
c.302-3C>G Multiple submitters hereditary neoplastic syndrome
c.4185+1G>T Multiple submitters hereditary neoplastic syndrome
c.4185+2T>G Multiple submitters hereditary neoplastic syndrome
c.4357+1del Multiple submitters hereditary neoplastic syndrome
c.4357+1G>C Multiple submitters hereditary neoplastic syndrome
c.4357+2T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.441+1G>A Multiple submitters hereditary neoplastic syndrome
c.441+2T>A Multiple submitters breast neoplasm
c.441+2T>C Multiple submitters hereditary neoplastic syndrome
c.4485-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4485-2A>G Multiple submitters BRCA1-related disorder
c.4675+2T>G Multiple submitters hereditary neoplastic syndrome
c.4676-1G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4676-2A>G Multiple submitters hereditary neoplastic syndrome
c.4986+3G>C Multiple submitters BRCA1-related cancer predisposition
c.4986+4A>C Multiple submitters hereditary neoplastic syndrome
c.4986+4A>T Multiple submitters hereditary neoplastic syndrome
c.4986+5G>A Multiple submitters hereditary neoplastic syndrome
c.4986+5G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4986+6T>C Multiple submitters Inherited breast cancer and ovarian cancer
c.4987-2A>C Multiple submitters hereditary neoplastic syndrome
c.4987-3C>G Multiple submitters hereditary neoplastic syndrome
c.4987-5T>A Multiple submitters hereditary neoplastic syndrome
c.5074+3A>G Multiple submitters Fanconi anemia, complementation group S
c.5075-1G>A Multiple submitters hereditary neoplastic syndrome
c.5075-1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.5075-2A>C Multiple submitters hereditary neoplastic syndrome
c.5075-2del Multiple submitters hereditary neoplastic syndrome
c.5075-?_5277+?dup203 Multiple submitters hereditary breast ovarian cancer syndrome
c.5152+2dup Multiple submitters hereditary breast carcinoma
c.5152+2T>C Multiple submitters hereditary neoplastic syndrome
c.5152+5G>A Multiple submitters ovarian cancer
c.5152+5G>C Multiple submitters hereditary neoplastic syndrome
c.5152+6T>G Multiple submitters hereditary neoplastic syndrome
c.5153-2A>G Multiple submitters hereditary neoplastic syndrome
c.5193+1del Multiple submitters hereditary neoplastic syndrome
c.5194-2A>G Multiple submitters Breast and/or ovarian cancer
c.5277+1del Multiple submitters hereditary neoplastic syndrome
c.5277+2T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.5278-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.5278-2A>T Multiple submitters hereditary neoplastic syndrome
c.5332+1del Multiple submitters hereditary neoplastic syndrome
c.5332+2T>A Multiple submitters hereditary neoplastic syndrome
c.5333-1G>C Multiple submitters hereditary neoplastic syndrome
c.5333-2A>G Multiple submitters hereditary neoplastic syndrome
c.5333-2A>T Multiple submitters hereditary neoplastic syndrome
c.536_547+166delinsT Multiple submitters hereditary breast ovarian cancer syndrome
c.5406+1_5406+3del Multiple submitters hereditary breast ovarian cancer syndrome
c.5406+4_5406+7del Multiple submitters hereditary breast ovarian cancer syndrome
c.5406+4A>G Multiple submitters hereditary neoplastic syndrome
c.5406+4del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.5406+5G>A Multiple submitters hereditary neoplastic syndrome
c.5406+5G>C Multiple submitters hereditary neoplastic syndrome
c.5406+5G>T Multiple submitters hereditary neoplastic syndrome
c.5407-1G>C Multiple submitters hereditary neoplastic syndrome
c.5407-2A>G Multiple submitters hereditary neoplastic syndrome
c.5467+1_5467+16del Multiple submitters hereditary neoplastic syndrome
c.5467+2T>C Multiple submitters hereditary neoplastic syndrome
c.5467+2T>G Multiple submitters hereditary neoplastic syndrome
c.5468-1_5469del Multiple submitters hereditary neoplastic syndrome
c.5468-2A>T Multiple submitters hereditary neoplastic syndrome
c.547+1G>A Multiple submitters hereditary neoplastic syndrome
c.547+1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.594_597delTGTG Multiple submitters hereditary neoplastic syndrome
c.671-215_901del Multiple submitters hereditary breast ovarian cancer syndrome
c.671-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.80+1G>A Multiple submitters hereditary neoplastic syndrome
c.80+5G>T Multiple submitters hereditary neoplastic syndrome
c.81-?_134+?del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.81-2A>C Multiple submitters hereditary neoplastic syndrome
c.81-2A>G Multiple submitters hereditary neoplastic syndrome
c.-19-2A>G Multiple submitters Fanconi anemia, complementation group S
p.Ala1608fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1623Gly Multiple submitters Inherited ovarian cancer (without breast cancer) ⚠
p.Ala1693del Multiple submitters hereditary neoplastic syndrome
p.Ala1752Pro Multiple submitters Fanconi anemia, complementation group S
p.Ala1823Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala225fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala870fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Arg71Met Multiple submitters hereditary neoplastic syndrome
p.Asn1018fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn306Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Asn455fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp1337Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp1692Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1739Gly Multiple submitters hereditary neoplastic syndrome
p.Asp1739Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp1739Val Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp1818Gly Multiple submitters BRCA1-related cancer predisposition ⚠
p.Asp366fs Multiple submitters hereditary neoplastic syndrome
p.Asp560fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp940fs Multiple submitters hereditary neoplastic syndrome
p.Asp96fs Multiple submitters hereditary neoplastic syndrome
p.Asp96Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp96Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Cys1697fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Cys24Arg Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys24Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys24Ser Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys24Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys39Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Cys39Phe Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Cys39Ser Multiple submitters Inherited breast cancer and ovarian cancer
p.Cys44= Multiple submitters hereditary neoplastic syndrome
p.Cys47Arg Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys47Phe Multiple submitters hereditary neoplastic syndrome
p.Cys61Arg Multiple submitters hereditary neoplastic syndrome
p.Cys64Ser Multiple submitters hereditary neoplastic syndrome
p.Cys64Trp Multiple submitters breast neoplasm
p.Cys801_Val802delinsSerPheProLeuTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln1424fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln1811Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1811fs Multiple submitters hereditary neoplastic syndrome
p.Gln1826fs Multiple submitters hereditary neoplastic syndrome
p.Glu1287fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1446Ter Multiple submitters
p.Glu1559Gln Multiple submitters Inherited breast cancer and ovarian cancer ⚠
p.Glu1731Ter Multiple submitters hereditary neoplastic syndrome
p.Glu230Ter Multiple submitters hereditary neoplastic syndrome
p.Glu438Ter Multiple submitters hereditary neoplastic syndrome
p.Glu673fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1706Arg Multiple submitters Breast and/or ovarian cancer
p.Gly1738del Multiple submitters hereditary neoplastic syndrome
p.Gly1738Glu Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly1748Asp Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly1803Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly263fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly535fs Multiple submitters hereditary neoplastic syndrome
p.Gly949fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.His1673del Multiple submitters hereditary breast ovarian cancer syndrome
p.His1686Arg Multiple submitters Inherited ovarian cancer (without breast cancer)
p.His1686Gln Multiple submitters hereditary breast ovarian cancer syndrome
p.His399fs Multiple submitters hereditary breast ovarian cancer syndrome
p.His41Tyr Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile1432_Ile1433insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile1766Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1340Ter Multiple submitters hereditary neoplastic syndrome
p.Leu1605fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu1705Pro Multiple submitters hereditary neoplastic syndrome
p.Leu1780Pro Multiple submitters Fanconi anemia, complementation group S
p.Leu1844fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Leu28fs Multiple submitters hereditary neoplastic syndrome
p.Lys1264fs Multiple submitters hereditary neoplastic syndrome
p.Lys1338Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Lys56fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Lys576fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Lys711Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Met1689Arg Multiple submitters BRCA1-related disorder
p.Met18Lys Multiple submitters Breast and/or ovarian cancer
p.Met1Val Multiple submitters Inherited breast cancer and ovarian cancer
p.Phe43_Cys44insTer Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1190fs Multiple submitters hereditary neoplastic syndrome
p.Pro1594fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro1812Ala Multiple submitters Fanconi anemia, complementation group S ⚠
p.Pro364fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro875fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro977fs Multiple submitters hereditary neoplastic syndrome
p.Ser1101fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1484Ter Multiple submitters hereditary neoplastic syndrome
p.Ser1655Phe Multiple submitters hereditary neoplastic syndrome
p.Ser643fs Multiple submitters hereditary neoplastic syndrome
p.Ser784Ter Multiple submitters hereditary neoplastic syndrome
p.Ser803fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1022_Val1023insTer Multiple submitters hereditary neoplastic syndrome
p.Thr1550fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1691Ile Multiple submitters hereditary neoplastic syndrome
p.Thr1691Lys Multiple submitters hereditary neoplastic syndrome
p.Thr37Arg Multiple submitters hereditary neoplastic syndrome
p.Trp1718Cys Multiple submitters hereditary neoplastic syndrome
p.Trp1837Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr1113fs Multiple submitters hereditary neoplastic syndrome
p.Tyr1853Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr465Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Val1120_Asn1121insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Val1341fs Multiple submitters hereditary neoplastic syndrome
p.Val1714Gly Multiple submitters hereditary neoplastic syndrome
p.Val1736Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Val1833Met Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 225

c.134+3A>T Expert panel BRCA1-related cancer predisposition
c.4987-7A>G Expert panel BRCA1-related cancer predisposition
c.5407-10G>A Expert panel BRCA1-related cancer predisposition
c.81-6T>A Expert panel BRCA1-related cancer predisposition
p.Ala1789Thr Expert panel BRCA1-related cancer predisposition
p.Arg1751Pro Expert panel BRCA1-related cancer predisposition
p.Arg1753Gly Expert panel BRCA1-related cancer predisposition
p.Asp1692Val Expert panel BRCA1-related cancer predisposition
p.Asp96Asn Expert panel BRCA1-related cancer predisposition ⚠
p.Cys1697Tyr Expert panel BRCA1-related cancer predisposition
p.Gly1748Cys Expert panel BRCA1-related cancer predisposition
p.His1686Tyr Expert panel BRCA1-related cancer predisposition ⚠
p.His1746Asp Expert panel BRCA1-related cancer predisposition
p.His41Asn Expert panel BRCA1-related cancer predisposition
p.His41Leu Expert panel BRCA1-related cancer predisposition
p.Leu1780Arg Expert panel BRCA1-related cancer predisposition
p.Leu1854Pro Expert panel BRCA1-related cancer predisposition
p.Phe1734Ile Expert panel BRCA1-related cancer predisposition
p.Phe1761Cys Expert panel BRCA1-related cancer predisposition
p.Pro25Leu Expert panel BRCA1-related cancer predisposition
p.Pro34Leu Expert panel BRCA1-related cancer predisposition
p.Pro34Ser Expert panel BRCA1-related cancer predisposition
p.Ser1655Pro Expert panel BRCA1-related cancer predisposition
p.Ser1715Cys Expert panel BRCA1-related cancer predisposition ⚠
p.Thr1700Ala Expert panel BRCA1-related cancer predisposition
p.Trp1718Gly Expert panel BRCA1-related cancer predisposition
p.Tyr1703Cys Expert panel BRCA1-related cancer predisposition
p.Val11Gly Expert panel BRCA1-related cancer predisposition
p.Val1713Ala Expert panel BRCA1-related cancer predisposition
p.Val1714Phe Expert panel BRCA1-related cancer predisposition
p.Val1809Phe Expert panel BRCA1-related cancer predisposition
c.4097-20_4134del Multiple submitters hereditary neoplastic syndrome
c.441+1G>C Multiple submitters hereditary neoplastic syndrome
c.442-18_442-4del Multiple submitters hereditary neoplastic syndrome
c.4676-1G>C Multiple submitters hereditary neoplastic syndrome
c.5074+3A>T Multiple submitters hereditary neoplastic syndrome
c.5152+5G>T Multiple submitters hereditary neoplastic syndrome
c.5467+5G>C Multiple submitters hereditary neoplastic syndrome
c.547+2del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1843Pro Multiple submitters hereditary neoplastic syndrome
p.Ala878fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1699Leu Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys1787Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys27Phe Multiple submitters hereditary neoplastic syndrome
p.Cys27Trp Multiple submitters Inherited breast cancer and ovarian cancer
p.Cys27Tyr Multiple submitters hereditary neoplastic syndrome
p.Gln1857fs Multiple submitters hereditary neoplastic syndrome
p.Gly1743Glu Multiple submitters hereditary neoplastic syndrome
p.Gly1748Arg Multiple submitters hereditary neoplastic syndrome
p.Gly1788Cys Multiple submitters hereditary neoplastic syndrome
p.His1686Asp Multiple submitters Fanconi anemia, complementation group S
p.Lys339Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Met1411Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met1689Lys Multiple submitters Inherited breast cancer and ovarian cancer
p.Met18Arg Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser1722Pro Multiple submitters hereditary neoplastic syndrome
p.Ser1841Arg Multiple submitters Inherited breast cancer and ovarian cancer
p.Ser1841Ile Multiple submitters hereditary breast ovarian cancer syndrome
p.Thr1691Arg Multiple submitters hereditary neoplastic syndrome
p.Trp1837Ser Multiple submitters hereditary neoplastic syndrome
p.Tyr1703Asp Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr1853Asn Multiple submitters hereditary breast ovarian cancer syndrome
p.Val1687Gly Multiple submitters Inherited breast cancer and ovarian cancer
p.Val1736Phe Multiple submitters hereditary neoplastic syndrome
c.129_134+2del Single submitter hereditary neoplastic syndrome
c.(134+1_135-1 Single submitter hereditary neoplastic syndrome
c.134+2574_5275dup Single submitter
c.134+3249_548-657del Single submitter
c.135-?_441+?dup Single submitter hereditary breast ovarian cancer syndrome
c.1388_1389insALU Single submitter hereditary neoplastic syndrome
c.1569_1570insSVA Single submitter hereditary neoplastic syndrome
c.208_212+22del Single submitter hereditary neoplastic syndrome
c.209_212+10delinsTTCTTACATAATGATGCTAGGTTGGAATAA Single submitter hereditary breast ovarian cancer syndrome
c.212_212+1delinsTGA Single submitter hereditary neoplastic syndrome
c.212+1del Single submitter hereditary neoplastic syndrome
c.212+3A>T Single submitter hereditary breast ovarian cancer syndrome
c.2301_2302insALU Single submitter hereditary neoplastic syndrome
c.2692_2693insALU Single submitter hereditary neoplastic syndrome
c.301+3A>C Single submitter hereditary breast ovarian cancer syndrome
c.3122_3123insALU Single submitter hereditary neoplastic syndrome
c.412_441+58del Single submitter hereditary breast ovarian cancer syndrome
c.4185_4185+1del Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1G>C Single submitter hereditary breast ovarian cancer syndrome
c.4185+2_4185+21del Single submitter hereditary breast ovarian cancer syndrome
c.4185+2del Single submitter
c.4185+4_4185+22del Single submitter
c.4485-2A>T Single submitter hereditary breast ovarian cancer syndrome
c.4676-2A>C Single submitter hereditary breast ovarian cancer syndrome
c.(4986+1_4987-1 Single submitter hereditary neoplastic syndrome
c.4986+3G>T Single submitter hereditary neoplastic syndrome
c.4986+4A>G Single submitter
c.4987-23_4987-22insALU Single submitter hereditary neoplastic syndrome
c.5054_5074+3del Single submitter hereditary neoplastic syndrome
c.5074+1del Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.5075-27del Single submitter hereditary breast carcinoma
c.5145_5152+8delinsAAATAG Single submitter
c.5152+6T>A Single submitter hereditary breast ovarian cancer syndrome
c.5153-16_5156delinsAATA Single submitter hereditary neoplastic syndrome
c.5194-2_5195del Single submitter
c.5194-2A>C Single submitter hereditary neoplastic syndrome
c.5277+2916_5277+2946del Single submitter hereditary breast carcinoma
c.5278-11_5278-1del Single submitter hereditary breast carcinoma
c.5278-35_5317del Single submitter hereditary neoplastic syndrome
c.5278-?_5406+?dup129 Single submitter hereditary breast ovarian cancer syndrome
c.5324_5332+5del Single submitter hereditary neoplastic syndrome
c.5332_5332+6delinsT Single submitter Breast and/or ovarian cancer
c.5332+1_5332+7del Single submitter hereditary breast ovarian cancer syndrome
c.5333-36_5333-22del Single submitter hereditary breast carcinoma
c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT Single submitter hereditary neoplastic syndrome
c.5402_5406+14del Single submitter hereditary neoplastic syndrome
c.5408delG Single submitter hereditary neoplastic syndrome
c.5468-40T>A Single submitter hereditary breast carcinoma
c.5468-9T>A Single submitter hereditary neoplastic syndrome
c.670+295_844del Single submitter hereditary breast ovarian cancer syndrome
c.671-26_1018del Single submitter
p.Ala1369fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1453fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1789Asp Single submitter hereditary breast ovarian cancer syndrome
p.Ala1789Val Single submitter hereditary neoplastic syndrome
p.Ala1823Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1830Ser Single submitter ovarian cancer ⚠
p.Arg1085fs Single submitter hereditary breast ovarian cancer syndrome
p.Arg1751Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Arg1753Ile Single submitter hereditary neoplastic syndrome
p.Arg1753Ser Single submitter hereditary breast ovarian cancer syndrome
p.Arg71Trp Single submitter hereditary neoplastic syndrome
p.Asn1678fs Single submitter hereditary breast ovarian cancer syndrome
p.Asn656fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1441Asn Single submitter ⚠
p.Asp1739Glu Single submitter hereditary neoplastic syndrome
p.Asp1739His Single submitter hereditary neoplastic syndrome
p.Asp1778Tyr Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asp96Ala Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Cys1697Phe Single submitter hereditary breast ovarian cancer syndrome
p.Cys27Arg Single submitter hereditary neoplastic syndrome
p.Cys27Gly Single submitter hereditary neoplastic syndrome
p.Cys44Ser Single submitter
p.Cys44Trp Single submitter hereditary breast ovarian cancer syndrome
p.Cys47Gly Single submitter hereditary breast ovarian cancer syndrome
p.Gln1408His Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Gln1811Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Gln380fs Single submitter
p.Glu1092Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1115fs Single submitter
p.Glu1115Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1682Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu1698Ter Single submitter hereditary breast ovarian cancer syndrome
p.Glu1765fs Single submitter
p.Glu1836fs Single submitter hereditary breast ovarian cancer syndrome
p.Glu1849Ter Single submitter hereditary neoplastic syndrome
p.Glu23_Cys24del Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Glu9fs Single submitter hereditary neoplastic syndrome
p.Glu9Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1624fs Single submitter hereditary breast ovarian cancer syndrome
p.Gly1706Val Single submitter hereditary breast ovarian cancer syndrome
p.Gly1770fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1788Ala Single submitter hereditary breast ovarian cancer syndrome
p.Gly1788Ser Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Gly1803fs Single submitter hereditary neoplastic syndrome
p.Gly876Ter Single submitter hereditary breast ovarian cancer syndrome
p.His1284fs Single submitter
p.His1805fs Single submitter hereditary neoplastic syndrome
p.His318Leu Single submitter ovarian cancer ⚠
p.His41_Lys45delinsLeu Single submitter hereditary breast ovarian cancer syndrome
p.His41Asp Single submitter hereditary breast ovarian cancer syndrome
p.Ile1766Thr Single submitter hereditary breast ovarian cancer syndrome
p.Leu1404fs Single submitter hereditary breast ovarian cancer syndrome
p.Leu1504fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1504Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1780Gln Single submitter hereditary breast ovarian cancer syndrome
p.Leu95Pro Single submitter hereditary neoplastic syndrome
p.Lys1254fs Single submitter hereditary breast ovarian cancer syndrome
p.Lys1702Asn Single submitter Inherited breast cancer and ovarian cancer
p.Lys1702Gln Single submitter hereditary neoplastic syndrome
p.Lys1711Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer Single submitter hereditary breast ovarian cancer syndrome
p.Lys711fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Met1324delinsIleSerAlaArgGlyLysLeuTer Single submitter hereditary breast ovarian cancer syndrome
p.Met1652fs Single submitter
p.Met1663Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Met1775Val Single submitter hereditary neoplastic syndrome ⚠
p.Phe1231fs Single submitter Breast and/or ovarian cancer
p.Phe1695_Val1696del Single submitter
p.Phe461fs Single submitter
p.Pro1315fs Single submitter
p.Pro1523fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Pro34Arg Single submitter hereditary neoplastic syndrome
p.Ser127fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser1280fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1512Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Ser770fs Single submitter
p.Thr1349fs Single submitter
p.Thr1548fs Single submitter hereditary breast ovarian cancer syndrome
p.Thr374fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Thr637delinsSerGlnTer Single submitter hereditary breast ovarian cancer syndrome
p.Thr760fs Single submitter
p.Trp1712Gly Single submitter hereditary neoplastic syndrome
p.Tyr105Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Tyr1769Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Tyr1853fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Tyr1853His Single submitter hereditary breast ovarian cancer syndrome
p.Tyr1853Ser Single submitter hereditary neoplastic syndrome
p.Val1653Glu Single submitter hereditary neoplastic syndrome
p.Val1688Phe Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Val1713Leu Single submitter hereditary neoplastic syndrome
p.Val1719Gly Single submitter hereditary neoplastic syndrome
p.Val1784Glu Single submitter hereditary neoplastic syndrome
p.Val1809Asp Single submitter hereditary neoplastic syndrome
p.Val1833Gly Single submitter hereditary breast ovarian cancer syndrome
p.Val1838Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Val419fs Single submitter
c.473_547+288del No assertion criteria breast carcinoma
c.4987-16T>G No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1
c.5406+2T>G No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1
c.5468-1_5468delinsTT No assertion criteria hereditary breast ovarian cancer syndrome
p.Asn354fs No assertion criteria breast carcinoma
p.Cys882fs No assertion criteria ovarian carcinoma
p.Glu495fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1
p.Leu137fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1
p.Lys339fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Pro919fs No assertion criteria breast carcinoma
p.Thr37Ala No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1
p.Thr499_Asn500insTer No assertion criteria BRCA1-related disorder
p.Tyr1509fs No assertion criteria hereditary neoplastic syndrome
p.Val35Ala No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1

Conflicting classifications of pathogenicity 2626

Showing the top 300 by review status; the full set is in the sitemap.

c.134+3A>G Single submitter hereditary neoplastic syndrome
c.134+4A>C Single submitter hereditary neoplastic syndrome
c.135-15C>A Single submitter hereditary breast ovarian cancer syndrome
c.135-3T>C Single submitter hereditary neoplastic syndrome
c.135-4A>G Single submitter hereditary neoplastic syndrome
c.135-5T>C Single submitter Hereditary cancer
c.135-8dup Single submitter hereditary neoplastic syndrome
c.212+4T>A Single submitter hereditary neoplastic syndrome
c.213-15A>G Single submitter hereditary breast ovarian cancer syndrome
c.213-7A>G Single submitter hereditary breast ovarian cancer syndrome
c.301+1G>A Single submitter hereditary neoplastic syndrome ⚠
c.301+1G>C Single submitter hereditary breast ovarian cancer syndrome ⚠
c.301+1G>T Single submitter hereditary neoplastic syndrome ⚠
c.301+3A>G Single submitter hereditary breast ovarian cancer syndrome
c.301+6T>C Single submitter hereditary breast carcinoma
c.302-3C>T Single submitter hereditary neoplastic syndrome
c.302-7T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.302-8T>C Single submitter hereditary breast ovarian cancer syndrome
c.302-9A>G Single submitter hereditary breast ovarian cancer syndrome
c.4096+9A>G Single submitter hereditary neoplastic syndrome
c.4097-11T>G Single submitter hereditary neoplastic syndrome
c.4097-15T>C Single submitter hereditary breast ovarian cancer syndrome
c.4097-2A>C Single submitter hereditary breast ovarian cancer syndrome ⚠
c.4097-7A>G Single submitter hereditary neoplastic syndrome
c.4185+10G>A Single submitter hereditary neoplastic syndrome
c.4185+31TG[3] Single submitter hereditary breast ovarian cancer syndrome
c.4185+4105C>T Single submitter hereditary breast ovarian cancer syndrome
c.4185+5A>G Single submitter hereditary breast ovarian cancer syndrome
c.4186-10G>A Single submitter Breast and/or ovarian cancer
c.4186-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.4357+4T>C Single submitter hereditary neoplastic syndrome
c.4357+6T>C Single submitter Inherited breast cancer and ovarian cancer
c.4357+7A>G Single submitter Breast and/or ovarian cancer
c.4358-2725T>C Single submitter hereditary neoplastic syndrome
c.4358-2786G>A Single submitter hereditary breast ovarian cancer syndrome
c.4358-31_4358-27del Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.4358-31A>G Single submitter hereditary neoplastic syndrome
c.4358-4A>G Single submitter hereditary breast ovarian cancer syndrome
c.441+5A>G Single submitter hereditary breast ovarian cancer syndrome
c.441+6dup Single submitter hereditary breast ovarian cancer syndrome
c.441+8C>T Single submitter hereditary neoplastic syndrome
c.441+9A>G Single submitter hereditary breast ovarian cancer syndrome
c.442-3del Single submitter hereditary neoplastic syndrome
c.442-?_547+?(2 Single submitter hereditary breast ovarian cancer syndrome
c.4484+13A>G Single submitter hereditary breast ovarian cancer syndrome
c.4484+3A>C Single submitter hereditary breast ovarian cancer syndrome
c.4484+5G>C Single submitter hereditary breast ovarian cancer syndrome
c.4484+5G>T Single submitter hereditary neoplastic syndrome
c.4485-10A>G Single submitter hereditary breast carcinoma
c.4485-11T>C Single submitter hereditary neoplastic syndrome
c.4485-8C>A Single submitter hereditary breast ovarian cancer syndrome
c.4485-8C>T Single submitter BRCA1-related cancer predisposition
c.4675+3A>G Single submitter hereditary neoplastic syndrome
c.4676-3C>T Single submitter hereditary breast ovarian cancer syndrome
c.4676-85G>A Single submitter hereditary breast ovarian cancer syndrome
c.4986+13A>G Single submitter hereditary breast ovarian cancer syndrome
c.4987-11T>C Single submitter BRCA1-related cancer predisposition
c.4987-3C>A Single submitter hereditary neoplastic syndrome
c.4987-5T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.4987-6T>A Single submitter hereditary neoplastic syndrome
c.5074+4T>C Single submitter hereditary breast ovarian cancer syndrome
c.5075-15T>G Single submitter hereditary breast ovarian cancer syndrome
c.5075-3C>T Single submitter hereditary breast ovarian cancer syndrome
c.5075-6C>A Single submitter hereditary neoplastic syndrome
c.5075-8T>G Single submitter hereditary neoplastic syndrome
c.5152+4A>G Single submitter hereditary neoplastic syndrome
c.5152+5_5152+10dup Single submitter hereditary neoplastic syndrome
c.5152+7A>G Single submitter hereditary neoplastic syndrome
c.5152+80del Single submitter hereditary breast ovarian cancer syndrome
c.5152+9A>C Single submitter
c.5153-26A>G Single submitter Fanconi anemia, complementation group S
c.5153-3T>C Single submitter hereditary breast ovarian cancer syndrome
c.5153-8C>A Single submitter hereditary neoplastic syndrome
c.5193+11G>T Single submitter hereditary neoplastic syndrome
c.5193+3_5193+15del Single submitter hereditary neoplastic syndrome
c.5194-16_5194-15del Single submitter hereditary neoplastic syndrome
c.5277+3A>G Single submitter hereditary neoplastic syndrome
c.5277+5A>G Single submitter hereditary neoplastic syndrome
c.5277+6G>C Single submitter hereditary neoplastic syndrome
c.5277+6G>T Single submitter hereditary breast ovarian cancer syndrome
c.5277+7C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.5278-3C>T Single submitter hereditary neoplastic syndrome
c.5278-96del Single submitter hereditary neoplastic syndrome
c.5332+3A>G Single submitter hereditary neoplastic syndrome
c.5332+4A>G Single submitter hereditary neoplastic syndrome
c.5332+5G>A Single submitter hereditary neoplastic syndrome
c.5333-13A>G Single submitter hereditary neoplastic syndrome
c.5333-18T>G Single submitter hereditary breast ovarian cancer syndrome
c.5333-3T>C Single submitter hereditary neoplastic syndrome
c.5333-483T>G Single submitter hereditary neoplastic syndrome
c.5333-6T>G Single submitter hereditary neoplastic syndrome
c.5333-7A>G Single submitter hereditary neoplastic syndrome
c.5333-8C>T Single submitter Breast and/or ovarian cancer
c.5406+10G>A Single submitter Fanconi anemia, complementation group S
c.5406+9T>C Single submitter Breast and/or ovarian cancer
c.5407-13C>A Single submitter hereditary neoplastic syndrome
c.5407-25T>A Single submitter hereditary neoplastic syndrome
c.5407-4C>G Single submitter hereditary neoplastic syndrome
c.5407-9G>A Single submitter hereditary breast ovarian cancer syndrome
c.5467+14A>G Single submitter hereditary breast ovarian cancer syndrome
c.5467+3A>C Single submitter hereditary breast carcinoma
c.5467+5G>T Single submitter hereditary breast ovarian cancer syndrome
c.5467+8G>A Single submitter hereditary neoplastic syndrome
c.5468-17G>A Single submitter hereditary neoplastic syndrome
c.5468-18T>A Single submitter hereditary neoplastic syndrome
c.5468-20C>T Single submitter hereditary breast ovarian cancer syndrome
c.5468-4C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.5468-5T>G Single submitter hereditary neoplastic syndrome
c.547+14del Single submitter hereditary neoplastic syndrome
c.548-12G>A Single submitter hereditary neoplastic syndrome
c.548-14G>A Single submitter Fanconi anemia, complementation group S
c.548-15G>A Single submitter hereditary neoplastic syndrome
c.548-15G>T Single submitter hereditary neoplastic syndrome
c.548-16G>A Single submitter hereditary neoplastic syndrome
c.548-3T>C Single submitter hereditary neoplastic syndrome
c.548-9del Single submitter hereditary neoplastic syndrome
c.593+11G>A Single submitter hereditary breast ovarian cancer syndrome
c.593+1G>A Single submitter hereditary breast ovarian cancer syndrome ⚠
c.593+4A>G Single submitter hereditary neoplastic syndrome
c.593+4del Single submitter hereditary breast ovarian cancer syndrome
c.593+9A>G Single submitter hereditary breast carcinoma
c.594-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.594-5T>C Single submitter hereditary neoplastic syndrome
c.594-6C>T Single submitter hereditary breast ovarian cancer syndrome
c.670+1G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
c.670+8C>T Single submitter hereditary neoplastic syndrome
c.671-10A>G Single submitter hereditary neoplastic syndrome
c.671-11T>G Single submitter hereditary neoplastic syndrome
c.671-1G>C Single submitter hereditary breast ovarian cancer syndrome ⚠
c.671-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.671-2A>G Single submitter hereditary breast ovarian cancer syndrome ⚠
c.671-8A>G Single submitter hereditary neoplastic syndrome
c.80+16A>T Single submitter hereditary neoplastic syndrome
c.80+5G>A Single submitter hereditary neoplastic syndrome
c.80+7C>A Single submitter hereditary breast ovarian cancer syndrome
c.80+7C>T Single submitter hereditary neoplastic syndrome
c.81-12C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 1
c.81-4038G>A Single submitter hereditary neoplastic syndrome
c.81-5G>A Single submitter hereditary neoplastic syndrome
c.81-6T>C Single submitter Breast and/or ovarian cancer
c.-106C>G Single submitter hereditary neoplastic syndrome
c.-125C>T Single submitter hereditary neoplastic syndrome
c.-16A>G Single submitter hereditary neoplastic syndrome
c.-19-5T>C Single submitter hereditary neoplastic syndrome
c.-19-7G>A Single submitter hereditary breast ovarian cancer syndrome
c.-1A>C Single submitter hereditary neoplastic syndrome
c.-1A>G Single submitter hereditary neoplastic syndrome
c.-20+13C>T Single submitter hereditary breast ovarian cancer syndrome
c.-86C>T Single submitter hereditary breast ovarian cancer syndrome
c.-9C>G Single submitter hereditary breast ovarian cancer syndrome
c.*1271T>C Single submitter hereditary neoplastic syndrome
c.*4C>T Single submitter hereditary neoplastic syndrome
c.*528G>C Single submitter hereditary breast ovarian cancer syndrome
c.*58C>T Single submitter Fanconi anemia, complementation group S
p.Ala1039Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1070Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1082Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1082Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1142Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1142Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1166Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1175= Single submitter hereditary breast ovarian cancer syndrome
p.Ala1175Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1175Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1206Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1206Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1248Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1277Val Single submitter BRCA1-related cancer predisposition ⚠
p.Ala1279Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1279Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1279Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1293Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala1293Phe Single submitter hereditary neoplastic syndrome
p.Ala1293Pro Single submitter BRCA1-related cancer predisposition ⚠
p.Ala1293Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1293Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1453= Single submitter hereditary neoplastic syndrome
p.Ala1611Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1615Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1615Thr Single submitter hereditary breast carcinoma ⚠
p.Ala1616Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1617Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1627Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1669Ser Single submitter Fanconi anemia, complementation group S ⚠
p.Ala1669Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1708Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1708Thr Single submitter Fanconi anemia, complementation group S ⚠
p.Ala1708Val Single submitter BRCA1-related cancer predisposition ⚠
p.Ala1789Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1830Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1843Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala1843Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala221Ser Single submitter Inherited breast cancer and ovarian cancer ⚠
p.Ala224= Single submitter hereditary breast ovarian cancer syndrome
p.Ala224fs Single submitter hereditary neoplastic syndrome ⚠
p.Ala253Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala253Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala253Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala254Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala280Asp Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala302Asp Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala302Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala302Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala302Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala314Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala322Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala322Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala344Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala344Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala344Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala344Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala407Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala410Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala410Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala433Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala439Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala439Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala439Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala439Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala469Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala469Thr Single submitter Fanconi anemia, complementation group S ⚠
p.Ala485Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala485Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala485Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala521Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala521Thr Single submitter BRCA1-related cancer predisposition ⚠
p.Ala521Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala524Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala524Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala524Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala579Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala584Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala5Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala605Glu Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala605Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala605Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala622Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala622Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala675Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala675Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala678Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala705Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala705Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala744Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala744Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala744Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala794Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala794Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala806Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala806Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala807Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala807Ser Single submitter Fanconi anemia, complementation group S ⚠
p.Ala807Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala854Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala854Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala854Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala870Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala870Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala870Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala870Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala878Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala878Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala883Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala883Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala942Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala942Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala942Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1012Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1012Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1012Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1012Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1028Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg1074Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1076Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Arg1076Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1203Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1204Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1204Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1243Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg133His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1347Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1443Gln Single submitter familial pancreatic carcinoma ⚠
p.Arg1443Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg1583Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1589Cys Single submitter Fanconi anemia, complementation group S ⚠
p.Arg1634Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1645Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Arg1645Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1645Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg166Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg170Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1726Gly Single submitter Breast and/or ovarian cancer ⚠
p.Arg1726Ile Single submitter hereditary neoplastic syndrome ⚠
p.Arg1753Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg1758Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1762Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1762Met Single submitter hereditary neoplastic syndrome ⚠
p.Arg1762Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Arg1835Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1835Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠

Benign 714

Showing the top 300 by review status; the full set is in the sitemap.

c.134+111C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1335dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1391C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1632C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1651dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1704dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1788C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1936C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+1967T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+202A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+224del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2349GAAAA[2] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2570A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2672A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+296C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2983_134+2987del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2990G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2993T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2994G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+2999del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3001_134+3002del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3004G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3379T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3404C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3597C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+3898T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+4133C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+4177A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+4294A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+4313C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+563G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+693C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.134+746G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-1006G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-1231G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-1803dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2258T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2435C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2458G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2524_135-2509dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2555C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-2683G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3013T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-332C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3390G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3551G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3552C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3641C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3759A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3807T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-396A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-3999C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-4161C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-4494T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-4533T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-499G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-563C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-766C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.135-925T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+23T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+325T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+430G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.212+657A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.213-161A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.213-266A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.213-485T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.301+7G>A Expert panel BRCA1-related cancer predisposition
c.301+8T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.302-41T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.302-70G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4097-10G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4097-11T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+10G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+112C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1392_4185+1393insG Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1393_4185+1394insAG Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1458A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1571G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+1787T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+201_4185+206dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2046T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2211C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2361G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2684A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+2981A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3033A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3045del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3333T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3334G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3470A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+3489C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+355C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+563A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+676A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+877CTT[2] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+879del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4185+880del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-1207C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-1247A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-1451C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-1457del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-2050A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-2187C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-2483A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-2852T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-3102dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-3361C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-3420A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-3572GT[22] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-3910T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-4027G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-514T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4186-603GAAA[5] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+117G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1212T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1386T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1513dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1563T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+1723G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2045G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2077C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2128T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2313T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2519C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+259A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+2723C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+380A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+651A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+794G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4357+877C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1130del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1132A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1142A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1147dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1181T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1194T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1226C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1277A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1413C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1475del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1597C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1705T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1745T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1893A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-1906T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2324C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2351G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2359T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2455C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2590T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2704C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-2885G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-722dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4358-755A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1028T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1037T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1173dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1321G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1379G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1382A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1383T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1416C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1653A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1734G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+18CTT[6] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1965T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+1990C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+2009G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+280G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+52_441+63del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.441+868C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-1431G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-1770C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-34C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-678C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-680T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-692TA[6] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-702AT[5] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-714T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-715A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-715AT[4] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-716A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-737AT[5] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-740_442-738del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-810_442-809insAAC Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-983G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4484+14A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4484+385A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4484+463C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4484+899C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-137T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-203_4485-199del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-340G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-413_4485-400del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-565TTCC[6] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4485-63C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+105G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+1392T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+1455dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+1515C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+315A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+509A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+563A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+565T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+567T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+569T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+581T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+693del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4675+903C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-1011G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-1025G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-284_4676-283insATTACAAGCATTGTTACAGTGAAC Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-55C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4676-777del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+1349G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+222A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+483T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+484A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4986+846G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-1060G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-1466G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-20A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-511T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-576G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-608G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-68A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4987-92A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1010T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1053A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1158G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1199C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1253T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1292C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1388A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1618A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+1751G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+205G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+221A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+228C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+265G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+284C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+65G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+6C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+760G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+820T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+878G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+909C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+918G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5074+918G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1073C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1135G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1139del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1143G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1412T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1546A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-1584T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-237C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-238A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-373C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-376C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-53C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-745A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5075-965A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5152+188dup Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5152+66G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5152+85del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5153-13A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5153-6C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1139_5193+1140del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1232_5193+1234del Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1271A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1354G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1457G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1590G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1602A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1690A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+1724C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2032G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2230C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2256C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2337G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2545G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2582G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2588C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+2803G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+3012T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5193+730A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-1179G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-1242T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-1244T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-1264A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-1450A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2072G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2216G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-221T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2379TGT[16] Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2381T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2501T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2801A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.5194-2912T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 1

Benign/Likely benign 86

c.135-23CTTT[2] Multiple submitters hereditary neoplastic syndrome
c.212+10T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.212+4T>C Multiple submitters hereditary neoplastic syndrome
c.301+12A>C Multiple submitters hereditary neoplastic syndrome
c.4097-12T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4097-20C>T Multiple submitters hereditary neoplastic syndrome
c.4097-28A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4185+11TG[5] Multiple submitters hereditary neoplastic syndrome
c.4185+14G>C Multiple submitters hereditary neoplastic syndrome
c.4185+9C>T Multiple submitters hereditary neoplastic syndrome
c.4357+17A>G Multiple submitters Breast and/or ovarian cancer
c.4358-10C>T Multiple submitters Breast and/or ovarian cancer
c.441+13G>A Multiple submitters hereditary neoplastic syndrome
c.441+17del Multiple submitters hereditary breast ovarian cancer syndrome
c.441+17T>C Multiple submitters hereditary neoplastic syndrome
c.441+18C>T Multiple submitters hereditary neoplastic syndrome
c.441+36_441+49del Multiple submitters hereditary breast carcinoma
c.442-10T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4676-16C>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4676-7C>T Multiple submitters hereditary neoplastic syndrome
c.4676-8C>G Multiple submitters Breast and/or ovarian cancer
c.4987-4T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.5074+23A>G Multiple submitters hereditary neoplastic syndrome
c.5075-9A>T Multiple submitters hereditary neoplastic syndrome
c.5152+10A>G Multiple submitters Fanconi anemia, complementation group S
c.5152+12A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.5152+20T>A Multiple submitters hereditary neoplastic syndrome
c.5153-4T>C Multiple submitters hereditary neoplastic syndrome
c.5194-16G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.5194-18G>T Multiple submitters hereditary neoplastic syndrome
c.5194-4T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.5277+20G>A Multiple submitters hereditary neoplastic syndrome
c.5278-20C>T Multiple submitters hereditary neoplastic syndrome
c.5332+13G>T Multiple submitters hereditary breast carcinoma
c.5332+19C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.5407-12C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.5467+9C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.5468-10_5468-9del Multiple submitters hereditary breast ovarian cancer syndrome
c.5468-4C>A Multiple submitters hereditary neoplastic syndrome
c.5468-8G>C Multiple submitters hereditary neoplastic syndrome
c.547+8T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.548-3del Multiple submitters hereditary neoplastic syndrome
c.593+3G>A Multiple submitters hereditary neoplastic syndrome
c.594-34T>C Multiple submitters hereditary neoplastic syndrome
c.671-12del Multiple submitters hereditary neoplastic syndrome
c.81-11T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.81-12C>G Multiple submitters hereditary breast carcinoma
c.81-12del Multiple submitters hereditary neoplastic syndrome
c.81-12dup Multiple submitters hereditary neoplastic syndrome
c.81-13C>A Multiple submitters hereditary neoplastic syndrome
c.81-17C>G Multiple submitters hereditary neoplastic syndrome
c.81-20C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.81-3625del Multiple submitters hereditary neoplastic syndrome
c.81-3636C>T Multiple submitters hereditary neoplastic syndrome
c.-19-10T>C Multiple submitters hereditary neoplastic syndrome
c.-19-32AT[7] Multiple submitters hereditary neoplastic syndrome
c.-20+11C>T Multiple submitters hereditary neoplastic syndrome
c.*20C>T Multiple submitters hereditary neoplastic syndrome
c.*750A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ala221= Multiple submitters hereditary neoplastic syndrome
p.Arg1589His Multiple submitters hereditary breast carcinoma
p.Arg841Gln Multiple submitters hereditary neoplastic syndrome
p.Asn1819Ser Multiple submitters hereditary neoplastic syndrome
p.Asn268= Multiple submitters hereditary neoplastic syndrome
p.Asp1778= Multiple submitters Breast and/or ovarian cancer
p.Gln1200His Multiple submitters BRCA1-related cancer predisposition
p.Gln1848= Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln94His Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1346Lys Multiple submitters BRCA1-related cancer predisposition
p.Glu255= Multiple submitters Breast and/or ovarian cancer
p.Glu736Ala Multiple submitters hereditary neoplastic syndrome
p.Glu84= Multiple submitters hereditary neoplastic syndrome
p.Gly1201Ser Multiple submitters hereditary neoplastic syndrome
p.Gly1803= Multiple submitters hereditary neoplastic syndrome
p.His1862Leu Multiple submitters hereditary neoplastic syndrome
p.His476Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Ile379Met Multiple submitters Inherited breast cancer and ovarian cancer ⚠
p.Ile492Val Multiple submitters hereditary neoplastic syndrome
p.Ile783Val Multiple submitters hereditary neoplastic syndrome
p.Ser1577Pro Multiple submitters hereditary neoplastic syndrome
p.Ser1613Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr1561Ile Multiple submitters hereditary breast carcinoma ⚠
p.Thr1777= Multiple submitters BRCA1-related cancer predisposition
p.Tyr1509= Multiple submitters hereditary breast ovarian cancer syndrome
c.135-27T>A No assertion criteria
c.5193+22C>T No assertion criteria breast-ovarian cancer, familial, susceptibility to, 1

Likely benign 2429

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1142= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1584= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1588= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1611= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1615= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1617= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1641= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1669= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1708= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala1752= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala521= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala622= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala744= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala807= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ala878= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1204= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1325= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1520= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1555= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1589= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1634= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1753= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg1758= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg252= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg256= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg332= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg661= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Arg841= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn103= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1081= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1102= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn113= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1132= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1215= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1268= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1364= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1403= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1444= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn1519= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn329= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn473= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn550= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn569= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn599= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn609= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn635= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn656= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn66= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn824= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn913= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asn961= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1156= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1435= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1506= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1533= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp1813= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp189= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp2= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp201= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp330= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp366= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp414= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp458= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp642= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp693= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Asp96= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1501= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys1768= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Cys47= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1090= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln12= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1240= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln126= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1409= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1424= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1518= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln169= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln172= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln174= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1756= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1779= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln1846= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln262= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln317= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln526= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln544= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln667= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln74= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln804= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln81= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gln867= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1004= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1071= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1134= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1214= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1258= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1358= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1415= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1451= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1581= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1638= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1698= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1725= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu1731= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu181= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu188= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu23= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu250= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu391= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu418= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu445= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu489= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu577= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu648= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu649= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu765= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu85= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Glu902= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1015= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1048= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1205= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1334= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1371= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1471= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1515= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly1770= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly263= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly275= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly462= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly707= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly774= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly778= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Gly911= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1141= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1284= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1421= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1545= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1822= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His1862= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His270= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His279= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His41= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His621= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.His971= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile1031= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile1674= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile1760= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile1855= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile1858= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile587= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile845= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile925= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ile966= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1080= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1230= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1260= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1261= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1306= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1340= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1414= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu147= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1553= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1570= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu159= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1657= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1676= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1679= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1705= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1780= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1844= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1850= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu1854= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu218= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu246= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu292= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu313= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu413= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu432= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu502= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu51= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu523= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu596= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu598= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu611= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu625= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu631= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu639= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu666= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu718= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu73= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu758= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu814= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu857= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu86= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu954= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Leu974= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys110= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1104= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1109= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1171= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1179= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1233= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1278= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1406= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys1601= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys193= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys223= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys309= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys325= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys338= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys339= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys355= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys357= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys443= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys467= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys576= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys583= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys614= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys653= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys672= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys679= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys683= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys701= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys739= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys893= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys894= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys937= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys943= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Lys993= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Phe1003= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Phe1124= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Phe1798= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1010= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1020= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1238= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro142= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1579= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1594= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1659= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1771= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1776= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1856= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro371= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro436= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro490= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro568= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro570= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro674= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro832= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro871= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro875= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro919= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro930= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro977= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Pro981= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1057= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1191= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1212= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser123= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1239= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1266= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1286= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1330= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1342= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1370= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1377= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1387Pro Expert panel BRCA1-related cancer predisposition ⚠
p.Ser140= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1423= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1460= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1473= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1542= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1551= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1580= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1631= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1796= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser1841= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser403= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser405= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser425= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser592= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser713= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser725= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser784= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser868= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Ser955= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1196= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1246= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1256= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1312= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1393= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1394= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1399= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1449= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1548= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1550= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1561= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1620= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1643= Expert panel breast-ovarian cancer, familial, susceptibility to, 1
p.Thr1677= Expert panel breast-ovarian cancer, familial, susceptibility to, 1

Uncertain significance 2296

Showing the top 300 by review status; the full set is in the sitemap.

c.4096+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.4096+3A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 1
c.442-1G>T Expert panel BRCA1-related cancer predisposition
c.4484+5G>A Expert panel BRCA1-related cancer predisposition
p.Ala1752Thr Expert panel BRCA1-related cancer predisposition ⚠
p.Arg1699Pro Expert panel BRCA1-related cancer predisposition ⚠
p.Gln210Ter Expert panel BRCA1-related cancer predisposition
p.Glu1731Lys Expert panel BRCA1-related cancer predisposition ⚠
p.Gly1788Asp Expert panel breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Leu1404Arg Expert panel BRCA1-related cancer predisposition ⚠
p.Leu28Pro Expert panel BRCA1-related cancer predisposition ⚠
p.Phe1668Ser Expert panel BRCA1-related cancer predisposition ⚠
p.Ser1722Tyr Expert panel BRCA1-related cancer predisposition ⚠
p.Ser1841Asn Expert panel BRCA1-related cancer predisposition ⚠
p.Ser1841Thr Expert panel BRCA1-related cancer predisposition ⚠
p.Thr208fs Expert panel BRCA1-related cancer predisposition
p.Trp1718Ser Expert panel BRCA1-related cancer predisposition ⚠
c.134+4A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.135-18T>G Multiple submitters hereditary neoplastic syndrome
c.212+5A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.213-14C>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.301+2dup Multiple submitters hereditary neoplastic syndrome
c.301+2T>C Multiple submitters hereditary neoplastic syndrome
c.301+5G>A Multiple submitters hereditary neoplastic syndrome
c.302-8T>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4096+2T>C Multiple submitters hereditary neoplastic syndrome
c.4096+4T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4096+5T>A Multiple submitters hereditary neoplastic syndrome
c.4097-5T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4185+2dup Multiple submitters hereditary neoplastic syndrome
c.4186-1G>T Multiple submitters hereditary neoplastic syndrome
c.4357+3G>A Multiple submitters hereditary neoplastic syndrome
c.4357+4T>G Multiple submitters hereditary neoplastic syndrome
c.4357+5G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.4358-1G>A Multiple submitters hereditary neoplastic syndrome
c.4358-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4358-2del Multiple submitters hereditary neoplastic syndrome
c.4358-31A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4358-33T>G Multiple submitters hereditary neoplastic syndrome
c.4358-3A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4358-6T>C Multiple submitters hereditary neoplastic syndrome
c.4358-9C>A Multiple submitters hereditary neoplastic syndrome
c.442-2A>G Multiple submitters hereditary neoplastic syndrome
c.442-3T>A Multiple submitters hereditary neoplastic syndrome
c.442-3T>C Multiple submitters hereditary neoplastic syndrome
c.442-3T>G Multiple submitters hereditary neoplastic syndrome
c.4484+10A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.4484+4A>G Multiple submitters hereditary neoplastic syndrome
c.4484+6A>C Multiple submitters hereditary neoplastic syndrome
c.4675+3A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4676_4678del Multiple submitters hereditary neoplastic syndrome
c.4987-10T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4987-4del Multiple submitters Breast and/or ovarian cancer
c.5153-12T>A Multiple submitters hereditary breast ovarian cancer syndrome
c.5193+5G>A Multiple submitters hereditary neoplastic syndrome
c.5193+6T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.5277+4A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.5333-3T>A Multiple submitters hereditary breast ovarian cancer syndrome
c.5333-46G>A Multiple submitters BRCA1-related disorder
c.5467+4A>G Multiple submitters hereditary neoplastic syndrome
c.547+4A>C Multiple submitters
c.547+6G>A Multiple submitters hereditary breast carcinoma
c.548-10A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.548-17G>A Multiple submitters hereditary neoplastic syndrome
c.548-9A>G Multiple submitters hereditary neoplastic syndrome
c.593+4A>C Multiple submitters hereditary neoplastic syndrome
c.593+4A>T Multiple submitters hereditary breast ovarian cancer syndrome
c.593+5G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.594-13C>A Multiple submitters hereditary neoplastic syndrome
c.594-1G>A Multiple submitters hereditary neoplastic syndrome
c.594-1G>T Multiple submitters hereditary neoplastic syndrome
c.670+1del Multiple submitters hereditary breast ovarian cancer syndrome
c.670+1G>T Multiple submitters hereditary neoplastic syndrome
c.670+2T>C Multiple submitters hereditary neoplastic syndrome
c.670+3A>G Multiple submitters hereditary neoplastic syndrome
c.670+3A>T Multiple submitters hereditary breast ovarian cancer syndrome
c.670+413A>G Multiple submitters hereditary neoplastic syndrome
c.670+4A>G Multiple submitters hereditary neoplastic syndrome
c.670+5T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.671-6T>G Multiple submitters hereditary neoplastic syndrome
c.-116C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.-19-1G>A Multiple submitters hereditary neoplastic syndrome
c.-19-4_-18del Multiple submitters hereditary neoplastic syndrome
c.-20+3A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-3G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.-3G>T Multiple submitters hereditary neoplastic syndrome
c.*101_*103del Multiple submitters hereditary neoplastic syndrome
c.*1337TGT[1] Multiple submitters hereditary breast ovarian cancer syndrome
c.*14C>G Multiple submitters
c.*465G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.*485G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
c.*869_*873del Multiple submitters
p.Ala102Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala102Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1175del Multiple submitters hereditary neoplastic syndrome
p.Ala1248Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala134_Lys135insThr Multiple submitters hereditary neoplastic syndrome
p.Ala134Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala134Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1368Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1368Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1369Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1412Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1416Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1416Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1438Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1453Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1453Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1453Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1453Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1474Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1481Thr Multiple submitters BRCA1-related disorder ⚠
p.Ala1481Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1588Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1599Thr Multiple submitters BRCA1-related cancer predisposition ⚠
p.Ala1599Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1608Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1608Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1615Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1616Pro Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1616Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1617Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1617Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1623Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala1623Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1627Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1627Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1641Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1669Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1693Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1752Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1752Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala17Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1814Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1830Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala194Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala194Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Ala221Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala224Thr Multiple submitters Breast and/or ovarian cancer ⚠
p.Ala433Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala807Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala807Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala887Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala927Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala92Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala92Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1028Pro Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg131Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1397Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1397Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1507Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1507Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg1555Lys Multiple submitters pancreatic cancer, susceptibility to, 4 ⚠
p.Arg1583Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1583Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg163Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg1645Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1649Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg166Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1751Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg1835Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg213Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg610Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg7_Glu10delinsGln Multiple submitters hereditary neoplastic syndrome
p.Arg762Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg7Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1002Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asn103Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asn112Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn112Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn112Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn113Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn113Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn113Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1259_Ser1266delinsIleCys Multiple submitters hereditary neoplastic syndrome
p.Asn1444His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1468Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1468Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1519Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1521Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn158His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn16Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1742Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1745Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1774His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1819Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn192Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn244del Multiple submitters hereditary neoplastic syndrome
p.Asn298Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn343Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn480_Gly484del Multiple submitters hereditary neoplastic syndrome
p.Asn550Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn569Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn682Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn714_Thr715del Multiple submitters hereditary neoplastic syndrome
p.Asn743Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn743del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1
p.Asn824_Lys830delinsLysTyr Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp1065Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp120Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp120Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1390Asn Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp1390Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp1398Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1398Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1398Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1398Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1435Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1475Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1482Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1482Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1482Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asp1533Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1533Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1533Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1533Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asp1557Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1557Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1557Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1557Tyr Multiple submitters BRCA1-related cancer predisposition ⚠
p.Asp1573His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp1582Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1582Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1621Ala Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp1621Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1733Asn Multiple submitters Fanconi anemia, complementation group S ⚠
p.Asp1757Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1778Glu Multiple submitters Breast and/or ovarian cancer ⚠
p.Asp1813His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1813Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp1840Tyr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp185Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asp185Ter Multiple submitters hereditary neoplastic syndrome
p.Asp189Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp201Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp214Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp214Tyr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp214Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp219His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp219Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp219Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asp397Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp560_Ser561insHisGluAsnLysThrLysGlyAsp Multiple submitters hereditary neoplastic syndrome
p.Asp67Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp821Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Cys1103_His1105del Multiple submitters hereditary neoplastic syndrome
p.Cys1372Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Cys1372Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Cys1501Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1501Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1513Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1697Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1767Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1767Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Cys1768Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1768Tyr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Cys27_Leu28insIleCys Multiple submitters hereditary neoplastic syndrome
p.Cys644del Multiple submitters hereditary neoplastic syndrome
p.Cys91Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys953Phe Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1069Glu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1118Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1182Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1227Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Gln126Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1388Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1388His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1388Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1395Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1396Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln139Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1401His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1401Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1408Arg Multiple submitters BRCA1-related cancer predisposition ⚠
p.Gln1409His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1409Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1420Glu Multiple submitters BRCA1-related cancer predisposition ⚠
p.Gln1458Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1467Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln148Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1518Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1518Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1518His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1518Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1525Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1537His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1556Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln1556His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln155His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1612Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Gln1612His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1721Arg Multiple submitters hereditary breast carcinoma ⚠
p.Gln172Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln174Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln174Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Gln174Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1857His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln206Ter Multiple submitters hereditary neoplastic syndrome
p.Gln210Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln494Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠