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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
ATM
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
ATM
(K224E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(G301D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
(S333F)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
ATM
(E343fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(N358S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+5 more
GBenign/Likely benign
ATM
(G514D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GBenign/Likely benign
ATM
(L546V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GBenign/Likely benign
ATM
(T554M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM
(F582L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GLikely pathogenic
ATM
(P604S)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
ATM
(S707P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GBenign
ATM
(D814E)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+6 more
GBenign
ATM
(N859*)
Duplication
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
ATM
(F858L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+4 more
GBenign/Likely benign
ATM
(P872S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+6 more
GBenign
ATM
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+3 more
GBenign
ATM
(M1040V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Deletion
(intron variant)
not specified
+4 more
GBenign/Likely benign
ATM
Duplication
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
Deletion
(nonsense)
Ataxia-telangiectasia syndrome
+6 more
GPathogenic
ATM
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+6 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
ATM
(P1354T)
Single nucleotide variant
(missense variant)
Hereditary cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(H1380Y)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
ATM
(L1420F)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
ATM
(H1474D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
ATM
(V1570A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
(R1575H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Hereditary breast ovarian cancer syndrome
+5 more
GBenign/Likely benign
ATM
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+5 more
GBenign
ATM
(S1691R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
ATM
(D1853N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GBenign
ATM, C11orf65
(V2079I)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign/Likely benign
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GBenign/Likely benign
ATM, C11orf65
(Q2177*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+6 more
GBenign
ATM, C11orf65
(L2307F)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2330V)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GBenign/Likely benign
C11orf65, ATM
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
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