ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000117.2(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) rs1557135929
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001195553.2(DCX):c.-22-364C>T rs761786389
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474

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.