"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PHKA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384586	NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	PHKA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 506356	NM_000292.3(PHKA2):c.2806+13C>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1 +1 more	GBenign/Likely benign
Select item 255773	NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1 +2 more	GBenign
Select item 255771	NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	PHKA2 (I693V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +2 more	GBenign/Likely benign
Select item 714585	NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	PHKA2 (T557R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +2 more	GBenign/Likely benign
Select item 566810	NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)	PHKA2 (D526N)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +1 more	GConflicting classifications of pathogenicity
Select item 1301802	NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)	PHKA2 (T158I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance

ClinVar