"Baylor Genetics"[submitter] AND "PHKG2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 943254	NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)	PHKG2 (H43Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2671939	NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)	PHKG2 (R71Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 318937	NM_000294.3(PHKG2):c.393G>A (p.Arg131=)	PHKG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032296	NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)	PHKG2 (L216I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 1032297	NM_000294.3(PHKG2):c.927+13G>A	PHKG2	Single nucleotide variant (intron variant)	Glycogen storage disease IXc	GConflicting classifications of pathogenicity
Select item 1029779	NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)	PHKG2 (R329W)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc +1 more	GUncertain significance

ClinVar