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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(K50R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(R337C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(R337H)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(V410A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM
(A416P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
ATM
(K482Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(L544S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATM
(T554M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(I576T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATM
(L615P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(V723A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATM
(R785H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
(A799V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM
(V835fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic
ATM
(E839G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(A869V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
(T935M)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(R981C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
ATM
(R982H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(N1005S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(T1020K)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(T1020I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(Y1300C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(A1309T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(Q1361R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(Y1442H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ATM
(T1504A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(L1598I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM
(D1848G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
Deletion
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E1959G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1992T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2014Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(V2115I)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GUncertain significance
ATM, C11orf65
(S2215R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
C11orf65, ATM
(L2379V)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
ATM, C11orf65
(T2396S)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2492R)
Single nucleotide variant
(missense variant +1 more)
Astroblastoma, MN1-altered
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M2520T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(T2640I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y2755fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
C11orf65, ATM
(R2832H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(W2845*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(N2875T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(T2921M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(H2981R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(I2998T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M3011V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(G3029D)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R3047*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GPathogenic
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