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Items: 1 to 100 of 434

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS2
(M600V +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA1
(E230* +20 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
PMS2
(S587N +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
(inframe_indel +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
PMS2
(M431fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
RET
(M1064T)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GUncertain significance
MSH6
(N455T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA2
(I605T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
(D245V +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
(F1510del +9 more)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
FH
Duplication
(inframe_insertion)
FH-related condition
+5 more
GConflicting classifications of pathogenicity
KCNK12, MSH2
Single nucleotide variant
(genic downstream transcript variant)
not provided
GBenign
MSH2
(G693E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
VHL
(N90S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FLCN
(D33H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
FLCN
(R320Q +1 more)
Single nucleotide variant
(missense variant)
FLCN-related condition
+5 more
GConflicting classifications of pathogenicity
FLCN
(W306*)
Single nucleotide variant
(nonsense +1 more)
FLCN-related condition
+4 more
GConflicting classifications of pathogenicity
FLCN
(G303R)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FLCN
(L296Q)
Single nucleotide variant
(missense variant +1 more)
FLCN-related condition
+2 more
GBenign/Likely benign
FLCN
(I196V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GBenign
FLCN
(A90S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
FLCN
(K508R +1 more)
Single nucleotide variant
(missense variant)
FLCN-related condition
+4 more
GConflicting classifications of pathogenicity
MEN1
(Q258H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MEN1
(R171Q +1 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia
+5 more
GConflicting classifications of pathogenicity
MEN1
(S114I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MEN1
(A541T +1 more)
Single nucleotide variant
(no sequence alteration)
not specified
+3 more
GConflicting classifications of pathogenicity
MEN1
(Q508E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MEN1
(R460Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
(R62G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDC73
(M435T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
WT1
(C138R +7 more)
Single nucleotide variant
(missense variant +2 more)
WT1-related condition
+6 more
GConflicting classifications of pathogenicity
RET
(T278N +3 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia
+8 more
GConflicting classifications of pathogenicity
RET
(V262A +3 more)
Single nucleotide variant
(missense variant)
RET-related condition
+9 more
GConflicting classifications of pathogenicity
RET
(T170I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
RET
(K994N +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia
+9 more
GConflicting classifications of pathogenicity
RET
(V871I +17 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+9 more
GConflicting classifications of pathogenicity
RET
(M848K +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
RET
(N763I +17 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RET
(R67H)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia
+8 more
GBenign/Likely benign
RET
Single nucleotide variant
not provided
GUncertain significance
SDHAF2
(R33C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
SDHAF2
(R18G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BRCA1
(L246V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(H1860P +80 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
BRCA1
(L1705V +78 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(A1669S +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+7 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
(E1635K +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
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
(S1512I +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R1507T +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(L1472F +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA1
(P142H +6 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
Single nucleotide variant
(intron variant)
not specified
GLikely benign
BRCA1, LOC126862571
(R1347G +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(S1321C +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(L1261F +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA1, LOC126862571
(K1183R +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(S1140G +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(P1099L +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
(M1008I +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(G928D +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
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
(K820E +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(V772A +20 more)
Single nucleotide variant
(missense 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
(T617A +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
(E597K +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R496H +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(D411E +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Q356R +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
PDGFRA
(V299A +2 more)
Single nucleotide variant
(missense variant)
PDGFRA-related condition
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(L221F +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
PDGFRA
(T200S +2 more)
Single nucleotide variant
(missense variant)
PDGFRA-related condition
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(D1002Y +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
PDGFRA
(H966R +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(G79D +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
PDGFRA
(R764H +2 more)
Single nucleotide variant
(missense variant)
PDGFRA-related condition
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(P567L +2 more)
Single nucleotide variant
(missense variant)
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
+2 more
GUncertain significance
PDGFRA
(S478P +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
PDGFRA
(L442P +2 more)
Single nucleotide variant
(missense variant)
PDGFRA-related condition
+4 more
GConflicting classifications of pathogenicity
PDGFRA
(G429R +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(V367M +2 more)
Single nucleotide variant
(missense variant)
PDGFRA-related condition
+3 more
GConflicting classifications of pathogenicity
PDGFRA
(R340Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
SMAD4
(R189C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
SMAD4
(I525V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
CDH1
(A298T)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(R224H)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(G693S +3 more)
Single nucleotide variant
(missense variant)
CDH1-related condition
+2 more
GConflicting classifications of pathogenicity
CDH1
(P597S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse gastric adenocarcinoma
+1 more
GConflicting classifications of pathogenicity
CDH1
(A592T +2 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
BMPR1A
(P2T)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GBenign
BMPR1A
(I532M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BMPR1A
(R478H)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+5 more
GConflicting classifications of pathogenicity
BMPR1A
(E415K)
Single nucleotide variant
(missense variant)
Juvenile polyposis syndrome
+4 more
GConflicting classifications of pathogenicity
SMARCB1
(T166S +1 more)
Single nucleotide variant
(missense variant +1 more)
SMARCB1-related condition
+1 more
GLikely benign
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