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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(A1942V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(F1977S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATM, C11orf65
(Q1982R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GLikely pathogenic
ATM, C11orf65
(G2023R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2047G)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
C11orf65, ATM
(H2111R)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
(splice donor variant +1 more)
not provided
GPathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2274T)
Single nucleotide variant
(missense variant +1 more)
Tip-toe gait
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T2396S)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
C11orf65, ATM
(E2457A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 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
(P2518S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(M2531T)
Single nucleotide variant
(non-coding transcript variant +2 more)
ATM-related disorder
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2540I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Deletion
(intron variant)
not provided
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2580S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(S2592C)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
ATM, C11orf65
(C2624S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
C11orf65, ATM
(T2640I)
Single nucleotide variant
(missense variant +1 more)
Tip-toe gait
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(K2710R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(C2735fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2763*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM, C11orf65
(F2799fs)
Microsatellite
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2832C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(R2912G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(I2914T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(E2932K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
OUncertain significance
ATM, C11orf65
(P2974L)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S3027fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(G3029D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
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