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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(E26Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM
(R32H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(T39A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM
(L120P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
Deletion
(frameshift variant)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
ATM
(R248Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(Y264fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM
(G301D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
ATM
(R337C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(V341I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(R457L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
ATM
(K468fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ATM
(E522fs)
Microsatellite
(frameshift variant)
Seizure
+7 more
GPathogenic
ATM
(I550V)
Single nucleotide variant
(missense variant)
ATM-related condition
+4 more
GConflicting classifications of pathogenicity
ATM
(E609Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(I678T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(I826L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(G844E)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
(M855T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(S877T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(I879T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
ATM
(F897I)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
ATM
(R924W)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
(T1020I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(V1160L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
Deletion
(nonsense)
Ataxia-telangiectasia syndrome
+6 more
GPathogenic
ATM
(D1285fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(Y1300C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(Q1331R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
(S1411fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(E1428K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(Y1442H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ATM
(Y1529*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
ATM
(I1581fs)
Duplication
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(I1659V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
(A1694V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(I1792T)
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
+4 more
GPathogenic/Likely pathogenic
ATM
(P1843A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
(Q1852K)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
(M1916T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S1993fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
ATM, C11orf65
(D2003N)
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GUncertain significance
C11orf65, ATM
(E2014*)
Single nucleotide variant
(nonsense +1 more)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2034Q)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(H2038N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(A2067D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2076V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
(Y2086F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(V2115I)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(C2337fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic
C11orf65, ATM
(R2459C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM, C11orf65
(C2488Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M2503I)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+4 more
GPathogenic
ATM, C11orf65
(Q2593R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2656V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(M2667V)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+4 more
GUncertain significance
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2719H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2912G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(C2931S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(L2995I)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
ATM, C11orf65
(G3029D)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+7 more
GConflicting classifications of pathogenicity
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