C3694531[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444190	NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)	PHKA2 (E1112D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2444416	NM_000292.3(PHKA2):c.717+1G>A	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 1333453	NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter)	PHKA2 (R86*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 1333379	NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter)	PHKA2 (Y49*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GLikely pathogenic

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