List of variants reported as pathogenic for Hereditary spastic paraplegia 15 by Paris Brain Institute, Inserm - ICM

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)	rs988442865	0.00001
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)	rs2040001177
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)	rs773333879
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)	rs1392868365
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	rs387907057
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)	rs2140185555
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)	rs2140183172

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.