CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp48 |
c.404-1G>T | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 16611748 Archer et al (2006) | cp43 |
c.539C>T | p.Pro180Leu | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp49 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp52 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp53 |
c.678_691conNM_003159.2:c.673_683inv | p.Gly228_Pro231delinsAlaProSer | variant of uncertain significance | Not Rett syndrome - X-linked West syndrome/autism | Female | 16611748 Archer et al (2006) | cp47 |
c.978-49_978-41del9 | p.? | likely benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp51 |
c.978-2A>G | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp44 |
c.2363_2367delAGAAA | p.Lys788Ilefs*11 | pathogenic variant | Not Rett syndrome - X-linked West syndrome/autism | Female | 16611748 Archer et al (2006) | cp46 |
c.2376+1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp45 |
c.2378T>C | p.Val793Ala | variant of uncertain significance | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp50 |
Displaying 11 entries