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Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1
(R1835fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(A1823T +90 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GPathogenic/Likely pathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GPathogenic/Likely pathogenic
BRCA1
(A1789S +79 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BRCA1
(Q1785* +79 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
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
(R1751* +79 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1747* +79 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
GLikely benign
BRCA1
(R1679fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(I1723V +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(T1720A +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Deletion
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
BRCA1
Deletion
(frameshift variant +2 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
(G1706A +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
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
(E1694* +78 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
GBenign
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
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA1
(M1652I +76 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(M1628T +77 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
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(N1592K +77 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(Y1563* +77 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T1561I +77 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GBenign/Likely benign
BRCA1
(D1546N +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(V1534M +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1512I +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1503* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
BRCA1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GBenign/Likely benign
BRCA1
(R1443G +58 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
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
GLikely benign
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
BRCA1
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(N1355fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1347G +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(E1346K +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
BRCA1, LOC126862571
(I1318V +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(S1298del +20 more)
Microsatellite
(inframe_indel +2 more)
Hereditary breast ovarian cancer syndrome
+2 more
GUncertain significance
BRCA1, LOC126862571
(I1275V +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(V1274fs +21 more)
Duplication
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(E1257fs +21 more)
Microsatellite
(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
(E1250* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1, LOC126862571
(V1247I +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(N1236K +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(E1214* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1203Q +21 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(R1203* +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
(E1114fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(D1115fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1140G +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, LOC126862571
(K1110del +20 more)
Deletion
(intron variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(P1099L +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
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
(S1024N +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(M1008V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(N997fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(N976fs +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
(Q934* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V876fs +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
(E908* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P850fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(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
(R841Q +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GBenign/Likely benign
BRCA1
(R841W +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
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