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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(L43V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(R248G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(S310G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(V455M)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
ATM
Deletion
(splice donor variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(R805Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(S809L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(R1086H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ATM
(R1150T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(Q1274*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity
ATM
(T1350M)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
ATM
(K1454N)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(D1637G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
ATM
(F1877S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(F1877fs)
Indel
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2131P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(C2159R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
C11orf65, ATM
(E2181K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(C2323F)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(R2436K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y2437*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2457A)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2466E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2486*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(N2501S)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2596D)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y2791*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(F2799fs)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(Q2972R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
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