ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1411_1412AG[2] (p.Glu472fs) rs267608634
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241

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.