"Genome-Nilou Lab"[submitter] AND "GYS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261460	NM_021957.4(GYS2):c.*6A>T	GYS2	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 261469	NM_021957.4(GYS2):c.1890+25del	GYS2	Deletion (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign/Likely benign
Select item 261466	NM_021957.4(GYS2):c.1422+23C>G	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261464	NM_021957.4(GYS2):c.1229+40T>C	GYS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 199162	NM_021957.4(GYS2):c.1229+11G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 261463	NM_021957.4(GYS2):c.1169+12A>T	GYS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261462	NM_021957.4(GYS2):c.1087A>G (p.Met363Val)	GYS2 (M363V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

ClinVar