List of variants reported as likely benign for Glycogen storage disease due to hepatic glycogen synthase deficiency by Illumina Clinical Services Laboratory,Illumina

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: 10

Download table as spreadsheet

HGVS	dbSNP
NM_021957.4(GYS2):c.*437dup	rs60154469
NM_021957.4(GYS2):c.-219T>G	rs184607089
NM_021957.4(GYS2):c.1063-15C>G	rs150691568
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)	rs139043251
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)	rs150433001
NM_021957.4(GYS2):c.1767T>C (p.Thr589=)	rs147417298
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)	rs140646346
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)	rs117474773
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser)	rs149533049
NM_021957.4(GYS2):c.615C>T (p.His205=)	rs569279347

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.