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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC1
(R83C)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
+5 more
GPathogenic
GAA
(Q553*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GPathogenic