CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-162-?_99+?del | p.Met1? | pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp109 |
c.380A>G | p.His127Arg | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp111 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | benign variant | Not known | Female | 19241098 Russo et al (2009) | cp127 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | benign variant | Unaffected - unaffected family member | Female | 19241098 Russo et al (2009) | cp128 |
c.902_903dupGA | p.Leu302Aspfs*49 | pathogenic variant | Not Rett syndrome - Angelman syndrome | Female | 19241098 Russo et al (2009) | cp110 |
c.2376+5G>A | p.? | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp112 |
c.99+29T>G | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp130 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp131 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp132 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp133 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp134 |
c.555-19C>G | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp125 |
c.555-19C>G | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp126 |
c.2046+79G>A | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp135 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp113 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp114 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp115 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp116 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp117 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp118 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp119 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp120 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp121 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp122 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp123 |
c.2767C>T | p.Arg923Cys | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp124 |
c.*15C>T | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp129 |
Displaying 27 entries