CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.-426C>G p.= benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp312
c.-426C>G p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp313
c.-426C>G p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp314
c.-426C>G p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp315
c.-426C>G p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp316
c.-426C>G p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp317
c.-391G>T p.= benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp322
c.-391G>T p.= benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp323
c.-391G>T p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp324
c.-391G>T p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp325
c.-391G>T p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp326
c.-391G>T p.= benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp327
c.[145+17A>G;3003C>T;3084G>A] p.= benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp328
c.[145+17A>G;3003C>T;3084G>A] p.= benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp329
c.403+27A>G p.= likely benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp318
c.510_511dup p.Tyr171Cysfs*58 pathogenic variant Rett syndrome - early-onset seizures Female 22867051 Maortua et al (2012) cp300
c.745-?_825+?del p.Phe249_Lys275del pathogenic variant Not Rett syndrome - infantile-onset seizures Female 22867051 Maortua et al (2012) cp301
c.1455_1460delGGCCAA p.Ala486_Lys487del likely benign variant Not Rett syndrome - infantile-onset seizures Female 22867051 Maortua et al (2012) cp302
c.1455_1460delGGCCAA p.Ala486_Lys487del likely benign variant Unaffected - unaffected family member Female 22867051 Maortua et al (2012) cp303
c.2389G>A p.Asp797Asn benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp304
c.2389G>A p.Asp797Asn benign variant Unaffected - unaffected family member Male 22867051 Maortua et al (2012) cp305
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp306
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp307
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp308
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp309
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp310
c.2389G>A p.Asp797Asn benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp311
c.2995G>A p.Val999Met benign variant Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp319
c.2995G>A p.Val999Met benign variant Unaffected - unaffected family member Female 22867051 Maortua et al (2012) cp320
c.2995G>A p.Val999Met benign variant Unaffected - non-RTT control Female 22867051 Maortua et al (2012) cp321

Displaying 30 entries