ClinVar for MedGen (Select 344698) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700689	NM_000151.4(G6PC1):c.853_854insT (p.Lys285fs)	G6PC1 (K285fs)	Insertion (frameshift variant +1 more)	Increased hepatic glycogen content	GLikely pathogenic
Select item 694638	NM_000292.3(PHKA2):c.918+1G>A	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1 +1 more	GPathogenic/Likely pathogenic