List of variants in gene GYG1 reported as pathogenic for Glycogen storage disease XV; Polyglucosan body myopathy type 2

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_004130.4(GYG1):c.143+3G>C	rs370652040	0.00016
NM_004130.4(GYG1):c.631del (p.Val211fs)	rs1429663478	0.00001
NC_000003.11:g.(?_148709428)_(148709454_?)del
NC_000003.12:g.148996742del
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)	rs1559834349
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
NM_004130.4(GYG1):c.487del (p.Asp163fs)	rs727502871
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
NM_004130.4(GYG1):c.683del (p.Thr228fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)	rs1714533252
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
NM_004130.4(GYG1):c.93dup (p.Thr32fs)

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.