"OMIM"[submitter] AND "GYS2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16053	NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)	GYS2 (M491R)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GConflicting classifications of pathogenicity
Select item 16055	NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro)	GYS2 (S483P)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
Select item 16051	NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	GYS2 (P479Q)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 16056	NM_021957.4(GYS2):c.1336C>G (p.His446Asp)	GYS2, LOC126861480 (H446D)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GUncertain significance
Select item 16052	NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)	GYS2 (A339P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16050	NM_021957.4(GYS2):c.941+1G>C	GYS2	Single nucleotide variant (splice donor variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GPathogenic
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 16054	NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)	GYS2 (N39S)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency	GLikely pathogenic