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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(I159V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(P178T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
ATM
(Q201*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
ATM
(R329K)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(K482Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
(E522*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
ATM
(L701F)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
ATM
(L895I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2346V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(G2772R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
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