CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.211A>G | p.Asn71Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp338 |
c.395T>G | p.Val132Gly | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
c.395T>G | p.Val132Gly | variant of uncertain significance | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp335 |
c.609G>C | p.Glu203Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp462 |
c.1039C>T | p.Gln347* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
c.1039C>T | p.Gln347* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
Displaying 7 entries