"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GYG1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 969811	NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)	GYG1 (G23E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383918	NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)	GYG1 (S46C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1428936	NM_004130.4(GYG1):c.175A>G (p.Ile59Val)	GYG1 (I59V)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +3 more	GUncertain significance
Select item 162663	NM_004130.4(GYG1):c.304G>C (p.Asp102His)	GYG1 (D102H)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +4 more	GPathogenic/Likely pathogenic
Select item 516905	NM_004130.4(GYG1):c.452A>T (p.His151Leu)	GYG1 (H151L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 385794	NM_004130.4(GYG1):c.609G>A (p.Val203=)	GYG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 162662	NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)	GYG1 (R324* +1 more)	Single nucleotide variant (nonsense +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic

ClinVar