"Centogene AG - the Rare Disease Company"[submitter] AND "PHKG2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973563	NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)	PHKG2 (R152*)	Single nucleotide variant (nonsense)	Glycogen storage disease type IXc +1 more	GPathogenic/Likely pathogenic
Select item 577568	NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)	PHKG2 (R185*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXc +1 more	GPathogenic