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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
+2 more
Duplication
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
(W2300S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GConflicting classifications of pathogenicity