CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.119C>T p.Ala40Val pathogenic variant Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp452
c.119C>T p.Ala40Val pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp453
c.175C>T p.Arg59* pathogenic variant Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp456
c.400C>T p.Arg134* pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp457
c.532C>T p.Arg178Trp likely pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp455
c.533G>A p.Arg178Gln pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp454
c.1648C>T p.Arg550* pathogenic variant Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp458
c.2635_2636delCT p.Leu879Glufs*30 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp459
c.2635_2636delCT p.Leu879Glufs*30 pathogenic variant Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp460

Displaying 9 entries