ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys) rs148617918
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys) rs369069984
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val) rs202136674
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His) rs143798221
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg) rs376935348
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)

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.