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Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(K31N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
ATM
(C107Y)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(A112T)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
(D126E)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
ATM
(S160fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(G197V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(G204R)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
(Y264fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM
(S310N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(G335R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(R337C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GBenign
ATM
(V410A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(R568I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(F582L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(P604S)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
ATM
(N619H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM
(V630M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(S707P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
ATM
(F763L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(S788R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GBenign/Likely benign
ATM
(F858L)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(N870D)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(P972L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
ATM
(R982H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
(N1005S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(M1040V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(Q1128R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GBenign/Likely benign
ATM
(V1193I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(P1354T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
ATM
(L1420F)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GBenign/Likely benign
ATM
(G1459R)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
ATM
(F1463C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(Y1475C)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
(Q1478R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+5 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(V1570A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(Y1603H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM
(I1631S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
Deletion
(intron variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(V1729L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(H1747R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
ATM
(I1804F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATM
(D1853V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ATM
(R1918T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GBenign/Likely benign
ATM, C11orf65
(K1992T)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2030V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GBenign/Likely benign
C11orf65, ATM
(V2079I)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S2146T)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S2168L)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2287A)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(L2307F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(L2330V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
ATM, C11orf65
(T2438I)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2461C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2492R)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2540I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
ATM-related disorder
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(D2569G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(R2580S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Q2593R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T2640I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K2756*)
Single nucleotide variant
(nonsense +1 more)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
C11orf65, ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM, C11orf65
(V2937A)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM, C11orf65
(D2987Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATM, C11orf65
(E2990K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
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