CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] benign variant Rett syndrome - atypical (early seizure variant) Female 23242510 Das et al (2013) cp439
c.2200A>G p.Thr734Ala variant of uncertain significance Rett syndrome - atypical Female 23242510 Das et al (2013) cp441
c.2372A>C p.Gln791Pro benign variant Rett syndrome - atypical Female 23242510 Das et al (2013) cp440
c.2896G>A p.Val966Ile likely benign variant Rett syndrome - atypical Female 23242510 Das et al (2013) cp437
c.3032C>T p.Ala1011Val likely benign variant Rett syndrome - atypical Female 23242510 Das et al (2013) cp438

Displaying 5 entries