List of variants in gene TMEM216 reported as pathogenic for Joubert syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875

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.