List of variants reported as pathogenic for Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)	rs535912271	0.00003
NM_020680.4(SCYL1):c.1230+1G>A	rs864309666	0.00001
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter)	rs864309667	0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)	rs942522644	0.00001
NM_020680.4(SCYL1):c.1180del (p.Val394fs)
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1386+1G>T	rs201581270
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)	rs1554969925
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs)	rs864309665
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs)	rs1590740858
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)	rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)	rs1554970375
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)	rs1320473430
NM_020680.4(SCYL1):c.937del (p.Val313fs)	rs864309664

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.