ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_032335.3(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_203473.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
Single allele

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.