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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(I10fs)
Deletion
(frameshift variant)
Ataxia telangiectasi
GPathogenic
ATM, C11orf65
(Y2036*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic