List of variants in gene MYORG reported as pathogenic for basal ganglia disorder

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter)	rs760451348	0.00001
I655T
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)	rs1180204613
NM_020702.5(MYORG):c.1233del (p.Phe411fs)	rs1563981857
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	rs1563981743
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)	rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)	rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu)	rs1563982307

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.