CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.65dupG p.Ala23Serfs*7 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp470
c.587C>T p.Ser196Leu likely pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp498
c.745-?_2276+?del p.Phe249Glufs*4 pathogenic variant Not Rett syndrome - epileptic encephalopathy Male 22264704 Moseley et al (2012) cp495
c.812T>C p.Leu271Pro likely pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp496
c.855A>C p.Arg285Ser variant of uncertain significance Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp471
c.2593C>T p.Gln865* pathogenic variant Not Rett syndrome - epileptic encephalopathy Male 22264704 Moseley et al (2012) cp497

Displaying 6 entries