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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(T60A)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+7 more
GConflicting classifications of pathogenicity
MUTYH
(E480del +7 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GPathogenic
MUTYH
(A357fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
MUTYH
(Y90* +5 more)
Single nucleotide variant
(nonsense +2 more)
Familial adenomatous polyposis 2
+4 more
GPathogenic/Likely pathogenic
EPCAM
(I277M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
BARD1
(I702M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MLH1
(K546R +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SDHA
(A488T +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+5 more
GUncertain significance
SDHA
(R554W +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+6 more
GConflicting classifications of pathogenicity
APC
(R1128H +12 more)
Single nucleotide variant
(missense variant)
Familial colorectal cancer
+5 more
GUncertain significance
RAD50
(R327H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RAD50
(R1077Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RAD50, TH2-LCR
+1 more
(R1256S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
(L786M +9 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GConflicting classifications of pathogenicity
FANCC
Single nucleotide variant
(splice acceptor variant)
FANCC-related condition
+4 more
GPathogenic/Likely pathogenic
PTCH1
(R290H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TSC1
(R190C +2 more)
Single nucleotide variant
(missense variant)
TSC1-related condition
+4 more
GConflicting classifications of pathogenicity
BMPR1A
(E415K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PTEN
(A79T +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
SUFU
(G109R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SUFU
(R339W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
ATM
(W156*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2606V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
SDHD
(T112I +1 more)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+9 more
GUncertain significance
POLE
(E2253Q)
Single nucleotide variant
(missense variant)
POLE Exonuclease Domain Mutation
+3 more
GUncertain significance
BRCA2
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(N372H)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(I605fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N986fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(L1152*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1251fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1277fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R1694I)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V1852D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N2706S)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+5 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E2863fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q2893*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q3026*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(P3089L)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+2 more
GUncertain significance
BLM
(E69K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(A357V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GConflicting classifications of pathogenicity
CDH1
(S146C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(C137R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
NF1
(R416*)
Single nucleotide variant
(nonsense)
Neurofibromatosis-Noonan syndrome
+7 more
GPathogenic
NF1
Deletion
(frameshift variant)
NF1-related condition
+5 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+2 more
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
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
(Q1537* +75 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
GBenign
BRCA1, LOC126862571
(S1253fs +21 more)
Microsatellite
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1203* +21 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(K1183R +21 more)
Single nucleotide variant
(intron 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
(S849fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T837fs +20 more)
Insertion
(frameshift variant +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
(T826K +20 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
GBenign
BRCA1
(K692fs +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
(N550H +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(L476fs +20 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
BRCA1
(L455fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(F486L +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Q356R +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Y179C +11 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GPathogenic/Likely pathogenic
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRIP1
(R658W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRIP1
(C283Y)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
SMARCA4
(P195H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(N186S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(R181C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-Related Cancer Susceptibility
+6 more
GConflicting classifications of pathogenicity
NF2
(R411C +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
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