CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-440G>T | p.= | variant of uncertain significance | Rett syndrome - Rett-like male | Male | 16015284 Evans et al (2005) | cp23 |
c.-391G>T | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp24 |
c.-391G>T | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp25 |
c.-265C>G | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp26 |
c.-265C>G | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp27 |
c.-189C>T | p.= | variant of uncertain significance | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp28 |
c.145+4AT[13] | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp36 |
c.145+4AT[15] | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp37 |
c.215T>A | p.Ile72Asn | pathogenic variant | Rett syndrome - early seizure | Female | 16015284 Evans et al (2005) | cp31 |
c.283-43G>A | p.= | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp38 |
c.463+22T>C | p.= | benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp40 |
c.464-40_464-37delCTTT | p.= | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp39 |
c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284 Evans et al (2005) | cp29 |
c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284 Evans et al (2005) | cp29 |
c.1330C>T | p.Arg444Cys | benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp32 |
c.1330C>T | p.Arg444Cys | benign variant | Unaffected - unaffected family member | Male | 16015284 Evans et al (2005) | cp33 |
c.1400A>G | p.His467Arg | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp34 |
c.1400A>G | p.His467Arg | likely benign variant | Unaffected - unaffected family member | Female | 16015284 Evans et al (2005) | cp35 |
c.2152+48C>T | p.= | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp41 |
c.2376+1G>C | p.Lys760Tyrfs*10 | pathogenic variant | Not Rett syndrome - West syndrome | Female | 16015284 Evans et al (2005) | cp30 |
c.2376+118T>A | p.= | benign variant | Not known | Unknown | 16015284 Evans et al (2005) | cp42 |
Displaying 21 entries