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