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Items: 1 to 100 of 264

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN2A, LOC130001603
Single nucleotide variant
(genic upstream transcript variant +1 more)
Melanoma and neural system tumor syndrome
+7 more
GPathogenic
PTEN
(R130* +1 more)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of prostate
+8 more
GPathogenic
OOncogenic
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Malignant tumor of prostate
+12 more
GPathogenic
OOncogenic
BRCA2
(K437fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K944*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q1089fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y1655*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1784fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y1894*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(R2659K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
(T3033fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T3085fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
CDH1, LOC130059290
Single nucleotide variant
(5 prime UTR variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
CDH1
(P30T)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
Single nucleotide variant
(synonymous variant +1 more)
Malignant tumor of prostate
+9 more
GConflicting classifications of pathogenicity
CDH1
(P126L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
CDH1
(H128fs)
Deletion
(frameshift variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(G239R)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(V391I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
CDH1
(V412I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial cancer of breast
+6 more
GUncertain significance
CDH1
(T457M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
CDH1
(T470I +1 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
(A592S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
CDH1
(A617T +2 more)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
CDH1
Microsatellite
(nonsense)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(L791F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
CDH1
(R800C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GUncertain significance
CDH1
(P825L +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CDH1
(S838G +3 more)
Single nucleotide variant
(missense variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
TP53
(R282W +3 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(R273H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(G245S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(synonymous variant)
Li-Fraumeni syndrome
+5 more
GBenign/Likely benign
TP53
(V177M +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+5 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(S176R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(H140Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+5 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(R175H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
RAD51D, RAD51L3-RFFL
(R232* +2 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 4
+5 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
Single nucleotide variant
(splice donor variant)
Breast-ovarian cancer, familial, susceptibility to, 4
+1 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
(R186* +2 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 4
+3 more
GPathogenic
RAD51D, RAD51L3-RFFL
(K111fs +1 more)
Duplication
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
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
(R1747fs +3 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(splice acceptor variant)
not provided
+6 more
GPathogenic
BRCA1
(R1699Q +78 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D1692H +79 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S551fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Y1563* +77 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(H1464fs +3 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1408* +58 more)
Single nucleotide variant
(nonsense +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
(V1234fs +21 more)
Microsatellite
(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
(E1114fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D778fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q780* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K606fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
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
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(E23fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
RAD51C
(F32fs)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 3
+5 more
GPathogenic
RAD51C
(Y75*)
Duplication
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GPathogenic
RAD51C
Single nucleotide variant
(splice acceptor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
RAD51C
(L262V)
Single nucleotide variant
(missense variant +1 more)
RAD51C-related disorder
+6 more
GConflicting classifications of pathogenicity
BRIP1
(W1217*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GUncertain significance
BRIP1
(I1191V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
BRIP1
(A1187T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
BRIP1
(G1155E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Ovarian neoplasm
+6 more
GConflicting classifications of pathogenicity
BRIP1
(D1148E)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
BRIP1
(E1144G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRIP1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
BRIP1
(Y1131fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group J
+5 more
GLikely pathogenic
BRIP1
(E1126D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRIP1
Single nucleotide variant
(synonymous variant)
Ovarian neoplasm
+5 more
GBenign/Likely benign
BRIP1
(E1111Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
BRIP1
(P1092L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
BRIP1
(A1081fs)
Duplication
(frameshift variant)
not provided
+7 more
GConflicting classifications of pathogenicity
BRIP1
(I1079M)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+5 more
GUncertain significance
BRIP1
(I1079T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRIP1
(S1075L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+5 more
GUncertain significance
BRIP1
(S1066fs)
Deletion
(frameshift variant)
Familial cancer of breast
+5 more
GLikely pathogenic
BRIP1
(T1050N)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+4 more
GConflicting classifications of pathogenicity
BRIP1
(R1035H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
BRIP1
(R1035C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+6 more
GConflicting classifications of pathogenicity
BRIP1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
BRIP1
(S1032R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
BRIP1
(G1024R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRIP1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
BRIP1
(P1017L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
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