"3billion"[submitter] AND "PHKG2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526237	NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del)	PHKG2 (E213del)	Microsatellite (inframe_deletion)	Glycogen storage disease IXc	GUncertain significance
Select item 1687518	NM_000294.3(PHKG2):c.800_801+34del	PHKG2	Deletion (splice donor variant)	Glycogen storage disease IXc	GPathogenic
Select item 1705670	NM_000294.3(PHKG2):c.802-2A>C	PHKG2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXc	GPathogenic

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