ClinVar Miner

List of variants reported as likely pathogenic for Pelizaeus-Merzbacher disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) rs0
NM_020435.4(GJC2):c.591dup (p.His198fs) rs1455411788

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.