ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_016529.6(ATP8A2):c.1058-2A>G
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1868-2A>G
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.3469+1G>C

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.