"Baylor Genetics"[submitter] AND "PHKA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028673	NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)	PHKA2, PHKA2-AS1 (Q1177*)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 2582630	NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)	PHKA2 (H1096R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2671950	NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)	PHKA2 (G965D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2442135	NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)	PHKA2 (I586S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 10537	NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)	PHKA2 (H132Y)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GPathogenic
Select item 1013871	NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	PHKA2 (R2G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic

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