CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.-253-?_64+?del p.Met1? pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp377
c.64+26G>A p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp383
c.64+26G>A p.= benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp384
c.145+4AT[13] p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp385
c.145+4AT[13] p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp386
c.145+4AT[13] p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp387
c.145+4AT[13] p.= benign variant Unaffected - non-Rett syndrome control Female Roche Martinez et al (2012) cp388
c.145+4AT[13] p.= benign variant Unaffected - non-Rett syndrome control Female Roche Martinez et al (2012) cp389
c.528G>T p.Trp176Cys pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp378
c.1266C>A p.Asp422Glu variant of uncertain significance Rett syndrome - atypical, preserved speech Female Roche Martinez et al (2012) cp376
c.1341delC p.Phe447Leufs*46 pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp375
c.1417dupA p.Ile473Asnfs*6 pathogenic variant Rett syndrome - atypical, congenital Female Roche Martinez et al (2012) cp381
c.1550delT p.Phe517Serfs*6 pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp382
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp390
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp391
c.2372A>C p.Gln791Pro benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp392
c.2372A>C p.Gln791Pro benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp393
c.2372A>C p.Gln791Pro benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp394
c.2372A>C p.Gln791Pro benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp395
c.2389G>A p.Asp797Asn benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp396
c.2389G>A p.Asp797Asn benign variant Unaffected - non-Rett syndrome control Female Roche Martinez et al (2012) cp397
c.2673G>A p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp399
c.2673G>A p.= benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp402
c.2704C>T p.Gln902* pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp379
c.2714-47C>T p.= variant of uncertain significance Rett syndrome - not certain Female Roche Martinez et al (2012) cp398
c.2927C>T p.Pro976Leu likely benign variant Rett syndrome - atypical, late regression Female Roche Martinez et al (2012) cp380
c.3003C>T p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp400
c.3003C>T p.= benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp403
c.3084G>A p.= benign variant Rett syndrome - not certain Female Roche Martinez et al (2012) cp401
c.3084G>A p.= benign variant Unaffected - unaffected family member Female Roche Martinez et al (2012) cp404

Displaying 30 entries