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Items: 1 to 100 of 1465

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
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
Microsatellite
(intron variant)
not specified
+2 more
GLikely benign
C11orf65, ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(P1922S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATM, C11orf65
(S1924del)
Microsatellite
(inframe_indel +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(P1922H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
(G1925R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(G1925A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(G1925E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(T1926A)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
C11orf65, ATM
(F1928L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(N1929S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
C11orf65, ATM
(D1930G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
(A1931fs)
Indel
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GBenign/Likely benign
ATM, C11orf65
(D1935fs)
Indel
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
ATM, C11orf65
(N1937S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(L1939Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
(E1940D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V1941G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(A1942V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(K1943E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(K1943R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
(S1947Y)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
(A1950T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(H1951P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
(F1952fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
(T1953I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
(A1954P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
C11orf65, ATM
(A1954G)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
C11orf65, ATM
(L1956V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM, C11orf65
(L1956F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(L1956H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
ATM, C11orf65
(A1958V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(E1959G)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(I1960N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
(K1964*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1964N)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(M1967fs)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K1965N)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
ATM, C11orf65
(S1966N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M1967V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(Q1970*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
ATM, C11orf65
(Q1970R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(E1971fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(R1973G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(R1973K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM, C11orf65
Deletion
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
(A1976T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(F1977fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
C11orf65, ATM
(F1977S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+6 more
GPathogenic
ATM, C11orf65
(G1980R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(Q1982R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(T1984S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(T1984I)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
ATM, C11orf65
(T1984K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
(I1986V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
C11orf65, ATM
(E1991*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic
ATM, C11orf65
(E1991K)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM, C11orf65
(E1991D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1992R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(S1993fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
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