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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(R35*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
ATM
(I97T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM
(C107Y)
Single nucleotide variant
(missense variant)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM
(A112T)
Single nucleotide variant
(missense variant)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM
(D126E)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(V182L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM
(G204R)
Single nucleotide variant
(missense variant)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM
(K224E)
Single nucleotide variant
(missense variant)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM
(L236V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(R337C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GBenign
ATM
(N358S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(Y380N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(V410A)
Single nucleotide variant
(missense variant)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
ATM
(G514D)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(L544S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
(L546V)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(F582L)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(Y583C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(P604S)
Single nucleotide variant
(missense variant)
ATM-related condition
+7 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
ATM
(E699G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(S707P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM
(S788R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(F858L)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM
(P872S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(S974C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(S978P)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM
(N1005S)
Single nucleotide variant
(missense variant)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM
(P1054R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM
(Q1128R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
ATM
(F1201I)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
(A1309T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(D1364G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
(H1380Y)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GBenign
ATM
(L1420F)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
ATM
(A1427T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(F1463C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(V1468I)
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
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM
(R1575H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(N1650S)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GBenign/Likely benign
ATM
(S1691R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
ATM-related condition
+3 more
GConflicting classifications of pathogenicity
ATM
(D1853N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
ATM
(D1853V)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
ATM-related condition
+6 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
ATM, C11orf65
(I2030V)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM, C11orf65
(L2077fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K2148R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2179M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(E2181D)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2272K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM, C11orf65
(A2274T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2307F)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2330V)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2332P)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GBenign
C11orf65, ATM
(T2396S)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T2438I)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2492R)
Single nucleotide variant
(missense variant +1 more)
Astroblastoma, MN1-altered
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M2531T)
Single nucleotide variant
(non-coding transcript variant +2 more)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(N2586S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2849*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2854C)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
ATM-related condition
+4 more
GConflicting classifications of pathogenicity
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