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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(S163P)
Single nucleotide variant
(missense variant)
Paragangliomas 4
+7 more
GConflicting classifications of pathogenicity
SDHB
(R90Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MUTYH
(L420M +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MUTYH
(R185W +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+2 more
GConflicting classifications of pathogenicity
SDHC
(M164L +10 more)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+6 more
GConflicting classifications of pathogenicity
MSH2
(P259S +1 more)
Single nucleotide variant
(missense variant)
MSH2-related disorder
+6 more
GConflicting classifications of pathogenicity
MSH6
(V878A +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
MSH6
(T1243S +2 more)
Single nucleotide variant
(missense variant)
Inherited ovarian cancer (without breast cancer)
+6 more
GConflicting classifications of pathogenicity
BARD1
(Q11H)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
MLH1
(I219V +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(H318Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
MLH1
(V618M +7 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
ATR
(W470C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
XRCC2
(L90F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NBN
(W501* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GPathogenic/Likely pathogenic
TSC1
(S530T +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
LOC106736614, RET
(G7D)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
RET
(V262A +3 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+8 more
GConflicting classifications of pathogenicity
RET
(R982C +17 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GConflicting classifications of pathogenicity
ATM
(S474N)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(F582L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(Y1124F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA2
(Q472*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E510*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q699*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V875L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA2
(D878H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(A938fs)
Deletion
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
(R2787C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA2
(D2900V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA2
(A2951S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BRCA2
(A2951T)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(T3033fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K3196E)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(K3326*)
Single nucleotide variant
(nonsense)
BRCA2-related cancer predisposition
GBenign
DICER1
(I461V)
Single nucleotide variant
(missense variant)
DICER1-related tumor predisposition
GBenign
SLX4
(A774S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(L1143H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
PALB2
(V1103fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
PALB2
(I941V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PALB2
(P864S)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign/Likely benign
PALB2
(E672Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
PALB2
(K311fs)
Insertion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PALB2
(L278H)
Indel
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
WRAP53
(A522fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
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
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
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
BRIP1
(N306fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRIP1
(R264W)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
AXIN2
(S762N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AXIN2
(A695S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
STK11
(S404F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
SMARCA4
(P135A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GConflicting classifications of pathogenicity
POLD1
(V759I +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+3 more
GConflicting classifications of pathogenicity
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+7 more
GPathogenic/Likely pathogenic
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related cancer predisposition
+5 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
(K141T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
(R137* +1 more)
Single nucleotide variant
(nonsense +1 more)
CHEK2-related cancer predisposition
+8 more
GPathogenic
NF2
(F592L +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
+2 more
GConflicting classifications of pathogenicity
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