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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(M1T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
ATM
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(D44G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(W57*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic
ATM
(Q87E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(N122S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity
ATM
(N246S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(R248*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(L262*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM
(R270G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(P292L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GLikely pathogenic
ATM
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(R309S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(E343fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(S403*)
Single nucleotide variant
(nonsense)
Malignant tumor of breast
+4 more
GPathogenic/Likely pathogenic
ATM
(T417fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(R447*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(R457L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(G506C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(E522fs)
Microsatellite
(frameshift variant)
Seizure
+6 more
GPathogenic
ATM
(I550V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(H674R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(R692H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM
(M780del)
Microsatellite
(inframe_deletion)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(S809*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(K828fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic
ATM
(A869V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(E937fs)
Duplication
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(L950R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GLikely pathogenic
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
OOncogenic
ATM
(A1014T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GPathogenic/Likely pathogenic
ATM
(A1089S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ATM
(I1093V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(Q1128fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(G1130*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
ATM
(K1181*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(W1221*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(A1355fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(S1383L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
(Y1442H)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(L1465P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GLikely pathogenic
ATM
(Q1503*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(Y1556*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic
ATM
(V1570A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM
(Q1579*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(L1598I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ATM
(K1615fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
ATM
(R1618*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM
(D1637G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(D1725fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(S1905fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2067D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Insertion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2187fs)
Indel
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
C11orf65, ATM
(H2208Y)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2227H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(L2251fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2334fs)
Microsatellite
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(T2333fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2443Q)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2459C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(C2464R)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2514*)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic
ATM, C11orf65
(W2638*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2642S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2662D)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2663A)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(D2708N)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2719H)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2832C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(T2911N)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(D2959fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(P2974L)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2993*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E3007*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R3008C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
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