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Items: 1 to 100 of 674

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GUncertain significance
BRCA1
(Y1863D +80 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+3 more
GUncertain significance
BRCA1
(H1813Q +80 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GUncertain significance
BRCA1
Deletion
(inframe_indel +3 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(H756fs +3 more)
Duplication
(frameshift variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA1
(I1858T +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
(inframe_indel +3 more)
Hereditary breast ovarian cancer syndrome
+3 more
GUncertain significance
BRCA1
(Y1853fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Y1853* +3 more)
Duplication
(frameshift variant +3 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T1852I +80 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA1
(C1847* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1846H +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
BRCA1
(A1843V +80 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(L1839S +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1837* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1837G +80 more)
Single nucleotide variant
(missense variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(W1837R +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E1836K +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
BRCA1
(R1788fs +3 more)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1835P +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GUncertain significance
BRCA1
(R1835Q +80 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T1834I +80 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BRCA1
(P1852fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P727T +80 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(E1829K +80 more)
Single nucleotide variant
(missense variant +2 more)
BRCA1-related disorder
+4 more
GUncertain significance
BRCA1
(G1778fs +4 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1848V +90 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(G1825R +90 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BRCA1
(I1824V +90 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice donor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GPathogenic/Likely pathogenic
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1811R +80 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely pathogenic
BRCA1
(Q1811* +90 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V1810A +80 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
BRCA1
(V1809I +90 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(V1808A +80 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GUncertain significance
BRCA1
(V1808L +90 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(G1756C +90 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GPathogenic/Likely pathogenic
BRCA1
(S1743fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(G1788V +79 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L1786P +79 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely pathogenic
BRCA1
(Q1785* +79 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1783I +79 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(W1782* +79 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1782* +79 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E1734K +79 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+5 more
GUncertain significance
BRCA1
(Q1732fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D1731E +79 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
+2 more
GUncertain significance
BRCA1
(D1778G +79 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GPathogenic/Likely pathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P1776L +79 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA1
(P1776S +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(M1775R +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(N1774S +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(N1774fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P1771fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(G1770A +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
BRCA1
(Y665fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C1768fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(I1766S +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L1764P +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L1717fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Deletion
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA1
Single nucleotide variant
(splice donor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1756fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1751* +79 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(G1748D +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GPathogenic/Likely pathogenic
BRCA1
(Q1700fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(H1746Q +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GUncertain significance
BRCA1
(N1742S +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(V1740L +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(D1739G +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA1
(G1738E +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA1
(G1738R +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V1736A +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
BRCA1
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
BRCA1
(E1731* +79 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GPathogenic/Likely pathogenic
BRCA1
(L1729Q +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA1
(M1728fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1747fs +3 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1722F +79 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
BRCA1
(Q1721E +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
BRCA1
(V1719L +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
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