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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
(S442A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(Q2184*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K457R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(A1669V +77 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GUncertain significance
BRCA1
(S1655P +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
BRCA2
(C1654*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q756*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(H1775fs +4 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(E183fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA2
(S1882fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1581fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
TP53
(V104M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
BRCA2
(I2490T)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA1
(K443* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
MSH2
Microsatellite
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(L173R +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GPathogenic
MSH2
(E776fs +1 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(Q718* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(R711* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(F591fs +1 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
Deletion
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH2
Deletion
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(E483* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH2
(R482* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(P28L)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Deletion
(splice acceptor variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(L260R +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
GPathogenic
MLH1
(R226Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GLikely pathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
MLH1
(Q742* +8 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(L676P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MLH1
(R659* +6 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MLH1
(K260fs +5 more)
Indel
(frameshift variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(L451fs +5 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MLH1
(R487* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
(Q426* +5 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(K1325del +2 more)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
MSH6
(E1163* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(A492fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(R644S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(R495* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(E446D +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GUncertain significance
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +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
(A1708E +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(F591fs +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
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
BRCA1
(S1448G +58 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1
(Y1429* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1395* +48 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC126862571, BRCA1
(I1237M +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1214* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(L1086* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V802fs +20 more)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
BRCA1
(M1V)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA1
(L63* +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(F414fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA2
(K3161*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R3128*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A3029T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA2
(L2732*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V2138F)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA2
(A1991V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(H1561N)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
BRCA2
(K1533N)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group D1
+7 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A495T)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+4 more
GConflicting classifications of pathogenicity
BRCA2
(I2944F)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(T1915M)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(M784V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(I3412V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(K322Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
BRCA2
(G2044V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA1
(E23fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1783T +79 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+6 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(Q1064fs +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
MSH2
Single nucleotide variant
(intron variant)
Lynch syndrome
GPathogenic
BRCA1
(Q1756fs +3 more)
Duplication
(frameshift variant +1 more)
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
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
TP53
(R337H +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+17 more
GPathogenic/Likely pathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(A938fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
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