CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.607G>T | p.Glu203* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp280 |
c.1708G>T | p.Glu570* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp281 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp271 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp272 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp273 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp274 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp275 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp276 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp277 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp278 |
c.[3003C>T;3084G>A] | p.= | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp279 |
Displaying 11 entries