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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATIC
(T116S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ATIC
(Y362C)
Single nucleotide variant
(missense variant)
AICA-ribosiduria
GLikely pathogenic