CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp295 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
c.39delT | p.Phe13Leufs*7 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp287 |
c.146-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp297 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp288 |
c.904C>T | p.Leu302Phe | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp289 |
c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
c.1079delT | p.Leu360Profs*8 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp291 |
c.[1238C>G(;)1400A>C] | p.[Ser413*(;)His467Pro] | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp292 |
c.1675C>T | p.Arg559* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp293 |
c.2016dupC | p.Ser673Leufs*10 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp294 |
c.2377-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp298 |
Displaying 14 entries