List of variants in gene SPG11 reported as pathogenic for Charcot-Marie-Tooth disease

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: 8

Download table as spreadsheet

HGVS	dbSNP
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	rs140385286
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	rs267607084
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	rs765061840
NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs)	rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)	rs863225440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	rs118203963
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)	rs863225439
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	rs371334506

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.