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 - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-253-?_825+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp204 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-162-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp201 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp199 |
c.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp200 |
c.404-1385_554+59del | p.(Asp135Alafs*43) | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp203 |
c.964dupA | p.Thr322Asnfs*4 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp198 |
c.2066delC | p.Pro689Hisfs*95 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp197 |
Displaying 9 entries