C3694531[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810400	NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)	PHKA2 (Q657*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 10535	NM_000292.3(PHKA2):c.557G>A (p.Arg186His)	PHKA2 (R186H)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely pathogenic