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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029650	NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)	PYGL (G695R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 11992	NM_002863.5(PYGL):c.1768+1G>A	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 575514	NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)	PYGL (D528N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 522775	NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	PYGL (P348L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2442209	NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)	PYGL (E333K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1029652	NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)	PYGL (P216L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029651	NM_002863.5(PYGL):c.528+2T>C	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 1033544	NM_002863.5(PYGL):c.298A>G (p.Met100Val)	PYGL (M100V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VI	GUncertain significance

ClinVar