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