"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GYS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1006088	NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)	GYS1 (R625C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1021949	NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)	GYS1 (G569V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3380628	NM_002103.5(GYS1):c.1834G>A (p.Ala612Thr)	GYS1 (A548T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 329818	NM_002103.5(GYS1):c.1026C>T (p.Phe342=)	GYS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3380629	NM_002103.5(GYS1):c.866C>G (p.Ala289Gly)	GYS1 (A225G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018886	NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)	GYS1 (R177Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 558922	NM_002103.5(GYS1):c.493-22G>T	GYS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514449	NM_002103.5(GYS1):c.234A>G (p.Glu78=)	GYS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency +1 more	GBenign/Likely benign

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