ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, syndromic, Claes-Jensen type, X-linked

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_004187.4(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter)
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313

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.