List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Klinikum rechts der Isar

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP
NM_000530.7(MPZ):c.558delG (p.Arg186Serfs)	rs1553259568
NM_021629.3(GNB4):c.229G>A (p.Gly77Arg)	rs1553851490

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.