CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.463+1G>A | p.Asp135_Phe154del | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp96 |
c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp100 |
c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp92 |
c.-162-2A>G | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp93 |
c.100-2A>G | p.Glu34Lysfs*27 | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp94 |
c.458A>G | p.Asp135_Phe154del | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp95 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
c.533G>C | p.Arg178Pro | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp97 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp101 |
c.680T>G | p.Leu227Arg | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp99 |
c.1892T>C | p.Ile631Thr | likely benign variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp102 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 19793311 Nemos et al (2009) | cp103 |
c.1892T>C | p.Ile631Thr | likely benign variant | Unaffected - unaffected family member | Female | 19793311 Nemos et al (2009) | cp104 |
Displaying 13 entries