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