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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GYS2
(E518A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GYS2
(Q183*)
Single nucleotide variant
(nonsense)
Glycogen storage disorder due to hepatic glycogen synthase deficiency
+1 more
GPathogenic