CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.64+2delT p.? pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp77
c.99+1G>T p.Ala23Asnfs*3 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp78
c.145+2T>C p.? pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp79
c.229_232delGAAG p.Glu77Hisfs*35 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp67
c.352C>T p.Gln118* pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp64
c.425T>A p.Leu142* pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp65
c.555-19C>G p.= benign variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp81
c.555-19C>G p.= benign variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp82
c.555-19C>G p.= benign variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp83
c.555-19C>G p.= benign variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp84
c.555-19C>G p.= benign variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp85
c.555-19C>G p.= benign variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp86
c.555-19C>G p.= benign variant Unaffected - unaffected family member Female 18790821 Bahi-Buisson et al (2008) cp87
c.555-19C>G p.= benign variant Unaffected - unaffected family member Female 18790821 Bahi-Buisson et al (2008) cp88
c.801_802delTA p.Asn267Lysfs*5 pathogenic variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp68
c.867dupA p.Gln290Thrfs*36 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp69
c.1311dupC p.Ser438Glnfs*25 pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp70
c.1892_1893dupTA p.Gly632* pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp71
c.2016delC p.Ser673Leufs*111 pathogenic variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp73
c.2045_2046delAGins18 p.Glu682Glyfs*12 pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp72
c.2152G>A p.Val718Met likely pathogenic variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp80
c.2325_2326delGA p.Lys776Alafs*24 pathogenic variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp74
c.2500C>T p.Gln834* pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp66
c.2635_2636delCT p.Leu879Glufs*30 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp75
c.2635_2636delCT p.Leu879Glufs*30 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp76

Displaying 25 entries