U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
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)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Q1970*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM, C11orf65
(K1992T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 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
(I2076V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
C11orf65, ATM
(W2109*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic
ATM, C11orf65
(V2115I)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GUncertain significance
C11orf65, ATM
(Y2144C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(S2165T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(S2168L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S2174R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(I2179M)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2185T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
(Y2202D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(W2205*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2247M)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
C11orf65, ATM
(F2265L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(I2275V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(A2325V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Duplication
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
ATM, C11orf65
(L2332P)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GBenign
C11orf65, ATM
(T2333fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(R2339K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(W2344*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(E2374A)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
ATM, C11orf65
(S2394L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GLikely pathogenic
ATM, C11orf65
(D2395V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
C11orf65, ATM
(I2401fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(N2412S)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(T2438I)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 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
(R2459G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
C11orf65, ATM
(R2461C)
Single nucleotide variant
(missense variant +1 more)
ATM-related disorder
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(N2501S)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M2503L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
(D2551G)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Malignant tumor of breast
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2598*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+4 more
GPathogenic
ATM, C11orf65
(I2606V)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(W2638G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R2691C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
C11orf65, ATM
(R2691H)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 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
(R2719H)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K2756*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM, C11orf65
(T2771I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
C11orf65, ATM
(K2810Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2832H)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T2853M)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
OUncertain significance
C11orf65, ATM
(H2872fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(G2897D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
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
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
not specified
+3 more
GLikely benign
ATM, C11orf65
(E2936Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
C11orf65, ATM
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(L2984V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
C11orf65, ATM
(R2993*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(S3001N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K3016fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(T3024P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R3047*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GPathogenic
Format
Items per page
Sort by
Choose Destination