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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1, LOC126862571
(D1362fs +21 more)
Duplication
(frameshift variant +1 more)
Breast and/or ovarian cancer
GLikely pathogenic
BRCA1, LOC126862571
(N1355fs +21 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(N1355del +21 more)
Microsatellite
(intron variant +2 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(T1349M +21 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(R1347G +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(V1286fs +21 more)
Deletion
(frameshift variant +1 more)
Breast and/or ovarian cancer
+1 more
GPathogenic/Likely pathogenic
BRCA1, LOC126862571
(H1237Q +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+2 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(S1253fs +21 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1253C +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+8 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1250K +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(P1238L +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
LOC126862571, BRCA1
(I1237M +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast neoplasm
+6 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(N1236K +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(F1231fs +21 more)
Duplication
(intron variant +1 more)
Breast and/or ovarian cancer
GLikely pathogenic
BRCA1, LOC126862571
(S1170fs +21 more)
Duplication
(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
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(C1146S +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126862571, BRCA1
(S1140G +21 more)
Single nucleotide variant
(intron variant +1 more)
BRCA1-related cancer predisposition
GBenign
BRCA1, LOC126862571
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC126862571, BRCA1
(Q1064fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(K1110del +20 more)
Deletion
(inframe_deletion +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(C1103Y +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(S1101N +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(P1099L +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(G1077fs +20 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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