"Baylor Genetics"[submitter] AND "PHKA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033522	NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)	PHKA1 (S809fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease IXd	GPathogenic
Select item 1380978	NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)	PHKA1 (R748H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2180092	NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)	PHKA1 (R555Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd +1 more	GUncertain significance
Select item 1029464	NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)	PHKA1 (V462M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd +1 more	GUncertain significance
Select item 913677	NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)	PHKA1 (A179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1029465	NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)	PHKA1 (I51T)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 625792	GRCh37/hg19 Xq13.2(chrX:71801020-71804146)	PHKA1	Copy number loss	Glycogen storage disease IXd	GPathogenic

ClinVar