ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability-psychosis-macroorchidism syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
MECP2, 240-BP DEL, NT1161
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715

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.