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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
ATM
(S227L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(R250Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
ATM
(L263F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(I326V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(I326M)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(Y370*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(T371A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(I396M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(K482Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
(E522fs)
Microsatellite
(frameshift variant)
Seizure
+6 more
GPathogenic
ATM
(V630M)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
ATM
(H674R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(R717W)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(G757R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
(F763L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM
(A799V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(K827R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(R832C)
Single nucleotide variant
(missense variant)
Hereditary cancer
+6 more
GConflicting classifications of pathogenicity
ATM
(D840N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(S941F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATM
Indel
(splice donor variant)
Familial cancer of breast
+1 more
GLikely pathogenic
ATM
(E958G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(S978P)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM
(R982H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(M1006V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(T1100M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(L1111V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(S1137N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely pathogenic
ATM
(G1202A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(R1205H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(D1226H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
ATM
(N1243T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(A1359D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(D1371N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(H1568R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(N1595S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(D1637G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(F1877C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
(H1951Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
Breast carcinoma
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I1986V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S1993fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
C11orf65, ATM
(K1992T)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2023R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(T2396S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(N2412S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(I2471V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
(L2492R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+4 more
GPathogenic
C11orf65, ATM
(R2580S)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Q2615E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(V2781F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
(S2797G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(K2810Q)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2850S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(R2854C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
OUncertain significance
ATM, C11orf65
(R2912G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(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
(L3026R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GUncertain significance
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