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Items: 1 to 100 of 1014

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASP8
Single nucleotide variant
(synonymous variant +2 more)
Familial cancer of breast
+4 more
GBenign/Likely benign
BARD1
(P759S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
BARD1
(A724V +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
BARD1
(K706E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BARD1
(Q666* +4 more)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
BARD1
(G656D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
BARD1
(C645R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
BARD1
(L625fs +3 more)
Deletion
(frameshift variant +2 more)
Malignant tumor of breast
+3 more
GPathogenic/Likely pathogenic
BARD1
(D612V +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BARD1
(D601G +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+2 more
GUncertain significance
BARD1
(A594S +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
BARD1
(Q564* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
BARD1
(S558P +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+2 more
GUncertain significance
BARD1
(C557S +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
BARD1
(S551* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
BARD1
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
BARD1
(H499D +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
BARD1
(P454A +1 more)
Single nucleotide variant
(intron variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BARD1
(Y404* +1 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+4 more
GPathogenic
BARD1
(M383K +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
BARD1
(R378S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GBenign
BARD1
(C336Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GUncertain significance
BARD1
(N326D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BARD1
(L239Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BARD1
(S231F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
BARD1
(E223G +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BARD1
(L211S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BARD1
(K207R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
BARD1
(S192Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GUncertain significance
BARD1
(D190N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BARD1
(S186G +1 more)
Single nucleotide variant
(missense variant +2 more)
Ovarian cancer
+5 more
GConflicting classifications of pathogenicity
BARD1
(P89L +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+2 more
GUncertain significance
BARD1
(E67D)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BARD1
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
BARD1
(P28T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
BARD1
(A25P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BARD1
(N18K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BARD1
(Q11H)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
not provided
+14 more
GPathogenic
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+14 more
GUncertain significance
PIK3CA
(K884R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+16 more
GUncertain significance
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+17 more
GPathogenic
RAD50
(R196C)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+2 more
GUncertain significance
RAD50
(R365Q)
Single nucleotide variant
(missense variant)
RAD50-related disorder
+7 more
GConflicting classifications of pathogenicity
RAD50
(R883C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ESR1
Single nucleotide variant
(synonymous variant)
Estrogen resistance syndrome
+4 more
GBenign
ESR1
Single nucleotide variant
(synonymous variant +2 more)
Migraine with or without aura, susceptibility to, 1
+5 more
GBenign/Likely benign
NBN
(L421S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+6 more
GConflicting classifications of pathogenicity
PTEN
(Q298E +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
PTEN hamartoma tumor syndrome
+11 more
GPathogenic
ATM
Single nucleotide variant
Familial cancer of breast
+2 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM
(R35*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(R45W)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(I68V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(K92T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
(Q95K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(Q95*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(S99G)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(C107Y)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(A112T)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
(D126E)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
ATM
(G134S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(C157*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(G204R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(A220V)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GUncertain significance
ATM
(E223G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(H231R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(R248*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(T267A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(H291D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(G301D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
ATM
(I323V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(A350V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(D351N)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GBenign
ATM
(Q368E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(Y370*)
Duplication
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(Q374*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(S381fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM
(R457*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM
(R457L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(L480F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM
(L481*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
ATM
(W488C)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
(G506C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(E522fs)
Microsatellite
(frameshift variant)
Ataxia-telangiectasia syndrome
+7 more
GPathogenic
ATM
(C532Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(L546V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
ATM
(R568I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM
(R568S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(K640*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(L643V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(S644*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
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