CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.58G>C | p.Gly20Arg | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp142 |
c.463+22T>C | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp192 |
c.463+22T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp193 |
c.554+11G>A | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp144 |
c.554+11G>A | p.= | benign variant | Unaffected - unaffected family member | Male | 20397747 White et al (2010) | cp145 |
c.587C>T | p.Ser196Leu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp143 |
c.978-23T>C | p.= | benign variant | Not Rett syndrome - neonatal seizures, severe epilepsy and mental retardation | Male | 20397747 White et al (2010) | cp190 |
c.978-23T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp191 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp147 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp148 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp149 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp150 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp151 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp152 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp153 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp154 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp155 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp156 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp157 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp158 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp159 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp160 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp161 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp162 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp163 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp164 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp165 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - unaffected family member | Male | 20397747 White et al (2010) | cp166 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp167 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp168 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp169 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp170 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp171 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp172 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp173 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp174 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp175 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp176 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp177 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp178 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp179 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp180 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp181 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp182 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp183 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp184 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp185 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp186 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp187 |
c.2377-31T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp188 |
c.2377-31T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp189 |
c.2504delC | p.Pro835Hisfs*2 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp146 |
Displaying 52 entries