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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(R982C +17 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GConflicting classifications of pathogenicity
BRCA2
(E510*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A938fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T3033fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C1740Y +79 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
BRCA1
(E1731K +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(M1652I +76 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1613G +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(D1115fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(I1112fs +21 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(C1146fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E1038G +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(T837fs +20 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L455fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q356R +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S220fs +19 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GPathogenic/Likely pathogenic
BRCA1
(R71G +1 more)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC111589215
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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