List of variants reported as pathogenic for Glycogen storage disease due to hepatic glycogen synthase deficiency by Invitae

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)	rs146195866
NM_021957.4(GYS2):c.122-8_141del	rs746120293
NM_021957.4(GYS2):c.465del (p.Phe155fs)
NM_021957.4(GYS2):c.495+1G>T	rs372079212
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	rs201157731
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	rs121918419
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter)	rs267603422
NM_021957.4(GYS2):c.941+1G>C	rs587776831

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.