CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.59G>A | p.Gly20Asp | likely pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp348 |
c.91A>G | p.Arg31Gly | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp359 |
c.99+34A>G | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp371 |
c.99+34A>G | p.= | benign variant | Unaffected - unaffected family member | Female | 23064044 Raymond et al (2013) | cp372 |
c.214_216del | p.Ile72del | likely pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp349 |
c.214_216del | p. Ile72del | likely pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp349 |
c.333A>G | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp367 |
c.333A>G | p.= | benign variant | Unaffected - unaffected family member | Male | 23064044 Raymond et al (2013) | cp368 |
c.405T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp369 |
c.405T>C | p.= | benign variant | Unaffected - unaffected family member | Male | 23064044 Raymond et al (2013) | cp370 |
c.506_507delCA | p.Thr169Argfs*36 | pathogenic variant | Not Rett syndrome - early-onset seizures | Male | 23064044 Raymond et al (2013) | cp357 |
c.506_507delCA | p.Thr168Argfs*36 | pathogenic variant | Not Rett syndrome - early-onset seizures | Male | 23064044 Raymond et al (2013) | cp357 |
c.526T>G | p.Trp176Gly | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp360 |
c.573C>G | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp365 |
c.573C>G | p.= | benign variant | Unaffected - unaffected family member | Male | 23064044 Raymond et al (2013) | cp366 |
c.1008_1029del22 | p.Ser337Argfs*6 | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp358 |
c.1071delC | p.Asp357Glufs*11 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp350 |
c.1247_1248del | p.Glu416Valfs*2 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp354 |
c.1330C>T | p.Arg444Cys | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp363 |
c.1330C>T | p.Arg444Cys | benign variant | Unaffected - unaffected family member | Female | 23064044 Raymond et al (2013) | cp364 |
c.1431T>C | p.= | benign variant | Not known | Female | 23064044 Raymond et al (2013) | cp351 |
c.1431T>C | p.= | benign variant | Not known | Male | 23064044 Raymond et al (2013) | cp352 |
c.1432_1433insT | p.Arg478Metfs*17 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp353 |
c.2308C>A | p.Gln770Lys | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp361 |
c.2308C>A | p.Gln770Lys | benign variant | Unaffected - unaffected family member | Female | 23064044 Raymond et al (2013) | cp362 |
c.2377-31T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp373 |
c.2377-31T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 23064044 Raymond et al (2013) | cp374 |
c.2531dupA | p.His844Glnfs*66 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp355 |
c.2928G>A | p.= | benign variant | Not known | Female | 23064044 Raymond et al (2013) | cp356 |
Displaying 29 entries