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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1743fs +3 more)
Deletion
(frameshift variant +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
(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
(V1736A +79 more)
Single nucleotide variant
(missense 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
Deletion
(splice acceptor variant)
not provided
+6 more
GPathogenic
BRCA1
(Y1703C +78 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(R1699Q +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1699W +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T1677fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(A1615T +77 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia, complementation group S
+9 more
GUncertain significance
BRCA1
(S1613G +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
(T1550I +75 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
BRCA1
(W1508* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+6 more
GPathogenic
BRCA1
(R1443* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(N1355fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(G1348fs +21 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1298* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(K1207fs +21 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1170fs +21 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(Q1200* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(K1183R +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(Q1064fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1040N +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(E1038G +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S956fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D936fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E908* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P871L +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R866C +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Y856H +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R841W +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(D778fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D821fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K812fs +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
GBenign
BRCA1
(S770* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S713* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(D693N +20 more)
Single nucleotide variant
(missense 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
(K607fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q563* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(G559fs +20 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(I379M +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GBenign/Likely benign
BRCA1
(Q356R +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S282fs +19 more)
Deletion
(intron 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
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Pancreatic cancer, susceptibility to, 4
+6 more
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Pancreatic cancer, susceptibility to, 4
+7 more
GConflicting classifications of pathogenicity
BRCA1
(Q81* +4 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R71G +1 more)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C61G +1 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(H41L)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GPathogenic/Likely pathogenic
BRCA1
(T37K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C24fs)
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
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