ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001123383.1(BCOR):c.3268del (p.Asp1090fs) rs1555915854
NM_001356.4(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.4(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.750_774dup (p.Ala259delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_005710.2(PQBP1):c.451_452AG[4] (p.Arg153fs) rs606231193

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.