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.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp457 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp454 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp455 |
c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp458 |
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp456 |
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