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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(R23*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(R35*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(D130fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM
(R447*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(K468fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(L615P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(R805*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
ATM
(N843fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(N1010fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic
ATM
(S1232fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(R1618*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(V1841fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM
(R1882*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(T1884fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM, C11orf65
(Y2009*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
C11orf65, ATM
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(W2300S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(non-coding transcript variant +2 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Malignant tumor of breast
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2791*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(D2822fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
(Q2896P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(R3008C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
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