List of variants reported as likely pathogenic for hereditary spastic paraplegia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)
NM_007347.5(AP4E1):c.1317-2A>C	rs1567230528
NM_014946.4(SPAST):c.1567del (p.Cys523fs)
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs)	rs34141362
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)	rs1595817021

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.