CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
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 | Unaffected - unaffected family member | Female | 20479760 Piton et al (2011) | cp234 |
c.3012G>T | p.Arg1004Ser | likely benign variant | Unaffected - unaffected family member | Female | 20479760 Piton et al (2011) | cp260 |
c.1382A>G | p.Asn461Ser | likely benign variant | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp231 |
c.1523T>C | p.Ile508Thr | variant of uncertain significance | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp233 |
c.2984T>G | p.Phe995Cys | likely benign variant | Not Rett syndrome - schizophrenia | Male | 20479760 Piton et al (2011) | cp254 |
c.3012G>T | p.Arg1004Ser | likely benign variant | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp259 |
c.1278A>C | p.= | benign variant | Not Rett syndrome - autism spectrum disorder | Unknown | 20479760 Piton et al (2011) | cp230 |
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.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.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