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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1
(S1841R +80 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA1
(E1836K +80 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+4 more
GUncertain significance
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1783T +79 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BRCA1
(N1774fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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
(H1746Y +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GUncertain significance
BRCA1
(D1739G +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA1
(K1655fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L1654fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1699Q +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C1697Y +78 more)
Single nucleotide variant
(missense variant +1 more)
BRCA1-related cancer predisposition
GLikely pathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(T1677fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA1
(S551fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K1606E +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Y1552H +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
BRCA1
(D1546N +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1496* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1467* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1443* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E1419Q +58 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Q1395* +48 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V1378I +48 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(E1373* +48 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(N1355fs +21 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(C1270Y +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(N1144fs +21 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1253fs +21 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(E1250K +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(C1178fs +21 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(E1221* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC126862571, BRCA1
(S1217fs +21 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1203* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(Q1200H +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GBenign/Likely benign
BRCA1, LOC126862571
(E1172G +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(Y1047fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E1060A +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(E1038A +20 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
BRCA1
(I1031S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(E908* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K894fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R866C +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(K820E +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(P798A +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA1
(T790A +20 more)
Single nucleotide variant
(intron variant +1 more)
BRCA1-related disorder
+4 more
GConflicting classifications of pathogenicity
BRCA1
(P726fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(N723D +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(F709fs +20 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R691fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K679* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L668F +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Y608fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K607fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K606fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(R496C +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(L481V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
BRCA1
(D369N +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(V340fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R332W +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1
(W321* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W321* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V299fs +20 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S282fs +19 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T229fs +19 more)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S220fs +19 more)
Deletion
(intron variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R252C +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA1
(L246V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(C226fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
BRCA1-related cancer predisposition
GBenign
BRCA1
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
(Q172fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q169* +11 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(I43fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q81* +4 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+4 more
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C44F)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Microsatellite
(frameshift variant +3 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E33Q)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA1
(P25L)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
BRCA1, LOC111589215
Single nucleotide variant
(5 prime UTR variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
Breast and/or ovarian cancer
GPathogenic
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