"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GYS2"[gene] - ClinVar - NCBI

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Items: 17

	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 558809	NM_021957.4(GYS2):c.2100A>G (p.Glu700=)	GYS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137530	NM_021957.4(GYS2):c.2067C>T (p.His689=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 214526	NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)	GYS2 (D669N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 137528	NM_021957.4(GYS2):c.1965G>C (p.Gln655His)	GYS2 (Q655H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 766741	NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)	GYS2 (S627L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653240	NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)	GYS2 (L592V)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GUncertain significance
Select item 137526	NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)	GYS2 (T546A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 214533	NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	GYS2 (E518A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137525	NM_021957.4(GYS2):c.1464A>G (p.Leu488=)	GYS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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
Select item 261473	NM_021957.4(GYS2):c.942-17G>A	GYS2	Single nucleotide variant (intron variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign
Select item 3380097	NM_021957.4(GYS2):c.299G>T (p.Cys100Phe)	GYS2 (C100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137522	NM_021957.4(GYS2):c.280G>A (p.Ala94Thr)	GYS2 (A94T)	Single nucleotide variant (missense variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +2 more	GBenign