List of variants in gene GYS1 reported as likely pathogenic for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)	rs587777375	0.00006
NM_002103.5(GYS1):c.678+1G>A	rs755305465	0.00006
NM_002103.5(GYS1):c.119-2_120del	rs1422043936	0.00003
NM_002103.5(GYS1):c.1170-2A>G	rs1219432457	0.00001
NM_002103.5(GYS1):c.1063-2A>G
NM_002103.5(GYS1):c.1229+1G>A	rs111911126
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)	rs748334413
NM_002103.5(GYS1):c.301-2A>C	rs2122525708
NM_002103.5(GYS1):c.678+2T>G	rs2122520177

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.