List of variants reported as likely pathogenic for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)	rs369901030	0.00008
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)	rs1207105923	0.00001
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)	rs1554961118
NM_177400.3(NKX6-2):c.234del (p.Leu79fs)	rs765650727
NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)	rs2134706153
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)	rs1565019928

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.