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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(R23*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic
ATM
(R32C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM
(F213L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
ATM
(N230fs)
Deletion
(frameshift variant)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
ATM
(I238V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
(Q445fs)
Deletion
(frameshift variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(T460M)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(D479G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(E522fs)
Microsatellite
(frameshift variant)
Seizure
+6 more
GPathogenic
ATM
(P604S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(C669*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GLikely pathogenic
ATM
(Q781*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
ATM
Deletion
(nonsense)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM
(V1570A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM
(Q1839*)
Single nucleotide variant
(nonsense)
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
(Q2028fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2366*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(F2485fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
+1 more
GLikely pathogenic
ATM, C11orf65
(Q2809*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2832C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(P2903fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(R2912G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
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