"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GYS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137529	NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)	GYS2 (F685S)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 569452	NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)	GYS2 (R386*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 307997	NM_021957.4(GYS2):c.1128C>T (p.Asn376=)	GYS2	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 16049	NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	GYS2 (R246*)	Single nucleotide variant (nonsense)	Glycogen storage disease +3 more	GPathogenic/Likely pathogenic
Select item 214530	NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	GYS2 (R192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214529	NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	GYS2 (Q183*)	Single nucleotide variant (nonsense)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GPathogenic
Select item 665082	NM_021957.4(GYS2):c.495+1G>T	GYS2	Single nucleotide variant (splice donor variant)	See cases +1 more	GPathogenic/Likely pathogenic

ClinVar