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Items: 1 to 100 of 618

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
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(S1924*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(A1931fs)
Indel
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(W1933*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(D1935fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(N1937fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
ATM, C11orf65
(Y1938N)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A1942S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
C11orf65, ATM
(A1942V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(V1944L)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(Y1957C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
ATM, C11orf65
(E1959V)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
Breast carcinoma
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1964*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K1965fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
ATM, C11orf65
(K1964N)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(S1966fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(K1965N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(Q1970*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
ATM, C11orf65
(Q1970R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
ATM, C11orf65
(E1971fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K1972E)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
C11orf65, ATM
(K1972T)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(R1973G)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R1973K)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
C11orf65, ATM
(F1977S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM, C11orf65
(E1979*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Q1982*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic
ATM, C11orf65
(Q1982R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
(T1984S)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T1984I)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
C11orf65, ATM
(I1986T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(S1993fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E1991*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
ATM, C11orf65
(E1991K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(S1993fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(G1998V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(I1999K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(S2000N)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(L2001S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(L2001*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(L2005V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(E2007fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
ATM, C11orf65
(I2008V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(Y2009H)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
ATM, C11orf65
(E2014Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(S2017fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic
ATM, C11orf65
(Y2019*)
Duplication
(nonsense +1 more)
Familial cancer of breast
GLikely pathogenic
C11orf65, ATM
(C2021Y)
Single nucleotide variant
(missense variant +1 more)
ATM-related disorder
+4 more
GUncertain significance
ATM, C11orf65
(G2022S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(Q2028E)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(H2038Q)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
C11orf65, ATM
(E2039K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(M2041T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(K2044fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K2044*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2045T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(A2045fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Microsatellite
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
ATM, C11orf65
(Y2049D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2052K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2054S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
(S2058fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(S2058*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(T2059S)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(T2059I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2060C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R2060P)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
ATM, C11orf65
(A2062fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(A2062fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(G2063E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2065fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
C11orf65, ATM
(I2065T)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
ATM, C11orf65
(Q2066E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Abnormal central motor function
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+1 more
GPathogenic
ATM, C11orf65
(A2067D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(L2068S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2072R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(G2072A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(L2073F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(L2077fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+4 more
GPathogenic
ATM, C11orf65
(Y2080C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(G2083R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(D2085E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
C11orf65, ATM
(Y2086F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(P2093S)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2094*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(L2098P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(H2099R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
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