C0017925[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685053	NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)	PYGL (G657R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +1 more	GUncertain significance
Select item 21331	NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	PYGL (D634H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +2 more	GConflicting classifications of pathogenicity
Select item 1686118	NM_002863.5(PYGL):c.1404-1G>A	PYGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 522775	NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	PYGL (P348L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 499130	NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)	PYGL (G233S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803027	NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)	PYGL (T59K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic

ClinVar