CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.[145+17A>G;3003C>T;3084G>A] p.= benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp5
c.[145+17A>G;3003C>T;3084G>A] p.= benign variant Unaffected - normal control Unknown 15499549 Tao et al (2004) cp6
c.[145+17A>G;3003C>T;3084G>A] p.= benign variant Unaffected - normal control Unknown 15499549 Tao et al (2004) cp7
c.455G>T p.Cys152Phe pathogenic variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp8
c.525A>T p.Arg175Ser pathogenic variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp9
c.525A>T p.Arg175Ser pathogenic variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp10
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp11
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp12
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp13
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp14
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp15
c.2372A>C p.Gln791Pro benign variant Unaffected - normal control Unknown 15499549 Tao et al (2004) cp16
c.2372A>C p.Gln791Pro benign variant Unaffected - normal control Unknown 15499549 Tao et al (2004) cp17
c.2372A>C p.Gln791Pro benign variant Unaffected - normal control Unknown 15499549 Tao et al (2004) cp18

Displaying 14 entries