CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.62A>G | p.Glu21Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp416 |
c.65-?_99+?del | p.(Ala23Asnfs*3) | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp415 |
c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp413 |
c.513C>A | p.Tyr171* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp411 |
c.578A>G | p.Asp193Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp409 |
c.578A>G | p.Asp193Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 23583054 Mirzaa et al (2013) | cp410 |
c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp412 |
c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp412 |
c.2593C>T | p.Gln865* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp414 |
Displaying 9 entries