CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.1278A>C p.= benign variant Not Rett syndrome - autism spectrum disorder Unknown 20479760 Piton et al (2011) cp230
c.1382A>G p.Asn461Ser likely benign variant Not Rett syndrome - autism spectrum disorder Male 20479760 Piton et al (2011) cp231
c.1382A>G p.Asn461Ser likely benign variant Unaffected - unaffected family member Female 20479760 Piton et al (2011) cp232
c.1523T>C p.Ile508Thr variant of uncertain significance Not Rett syndrome - autism spectrum disorder Male 20479760 Piton et al (2011) cp233
c.1523T>C p.Ile508Thr variant of uncertain significance Unaffected - unaffected family member Female 20479760 Piton et al (2011) cp234
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp235
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp236
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp237
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp238
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp239
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp240
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp241
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp242
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp243
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp244
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp245
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp246
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp247
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp248
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp249
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp250
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp251
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp252
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp253
c.2984T>G p.Phe995Cys likely benign variant Not Rett syndrome - schizophrenia Male 20479760 Piton et al (2011) cp254
c.3003C>T p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp255
c.3003C>T p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp256
c.3003C>T p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp257
c.3003C>T p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp258
c.3012G>T p.Arg1004Ser likely benign variant Not Rett syndrome - autism spectrum disorder Male 20479760 Piton et al (2011) cp259
c.3012G>T p.Arg1004Ser likely benign variant Unaffected - unaffected family member Female 20479760 Piton et al (2011) cp260
c.3084G>A p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp261
c.3084G>A p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp262
c.3084G>A p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp263
c.3084G>A p.= benign variant Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp264

Displaying 35 entries