"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PYGL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882388	NM_002863.5(PYGL):c.*78G>A	PYGL	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1038832	NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)	PYGL (N847I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +2 more	GUncertain significance
Select item 194735	NM_002863.5(PYGL):c.2112T>C (p.Ala704=)	PYGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 573678	NM_002863.5(PYGL):c.1828-9T>A	PYGL	Single nucleotide variant (intron variant)	Glycogen storage disease, type VI	GUncertain significance
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 841485	NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)	PYGL (N451S +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 193644	NM_002863.5(PYGL):c.1093-6C>A	PYGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

ClinVar