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