CDKL5 Proband Search Results
| cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
|---|---|---|---|---|---|---|
| c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
| c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
| c.-162-?_99+? | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp525 |
| c.38T>C | p.Phe13Ser | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp551 |
| c.64+1G>A | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp566 |
| c.64+2T>C | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp567 |
| c.65-?_1944+?dup | p.? | variant of uncertain significance | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp568 |
| c.100-9_100-3delCCCTTGCinsGCAGA | p.Lys33dup | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp512 |
| c.100-?_*1085del | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp511 |
| c.146-6T>G | p.Glu49Valfs*2 | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp520 |
| c.146-1G>A | p.(=) | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp519 |
| c.146-?_282+?del | p.Asn50Tyrfs*15 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp517 |
| c.146-?_463+?dup | p.? | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp518 |
| c.214_216del | p.Ile72del | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp532 |
| c.214_216del | p. Ile72del | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp532 |
| c.215T>C | p.Ile72Thr | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
| c.215T>C | p.Ile72Thr | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
| c.220G>T | p.Glu74* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp534 |
| c.282+3_282+6delAAGT | p.(=) | likely benign variant | Not known | Female | 25657822 Fehr S et al (2015) | cp546 |
| c.282+3_282+6delAAGT | p.(=) | likely benign variant | Not known | Female | 25657822 Fehr S et al (2015) | cp547 |
| c.351T>A | p.Tyr117* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp548 |
| c.364G>A | p.Ala122Thr | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp549 |
| c.377G>A | p.Cys126Tyr | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp550 |
| c.395T>G | p.Val132Gly | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp552 |
| c.395T>G | p.Val132Gly | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp552 |
| c.404-3C>A | p.(=) | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp553 |
| c.404A>G | p.Asp135Gly | likely pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp554 |
| c.428T>A | p. Ile143Asn | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp555 |
| c.456_457delTG | p.Cys152* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp556 |
| c.458A>T | p. Asp153Val | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp557 |
| c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp558 |
| c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp558 |
| c.506_507delCA | p.Thr169Argfs*36 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp559 |
| c.506_507delCA | p.Thr168Argfs*36 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp559 |
| c.514G>A | p.Val172Ile | likely pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp560 |
| c.526T>C | p.Trp176Arg | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp561 |
| c.536C>T | p. Ser179Phe | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp562 |
| c.556_557delGC | p.Ala186Serfs*19 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp563 |
| c.577G>C | p.Asp193His | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp564 |
| c.595T>C | p.Cys199Arg | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp565 |
| c.670C>T | p.Gln224* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp569 |
| c.745-2A>G | p.Phe249_Lys275del | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp571 |
| c.745-?_977+?del | p.Phe249Lysfs*16 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp570 |
| c.801_802delAT | p.Asn267Lysfs*5 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp572 |
| c.825+1G>A | p.Phe249_Lys275del | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp573 |
| c.825+1G>T | p.Phe249_Lys275del | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp574 |
| c.857dupA | p.Tyr286* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp575 |
| c.859_868del10 | p.Leu287Serfs*3 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp576 |
| c.872G>A | p.Cys291Tyr | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp577 |
| c.872G>A | p.Cys291Tyr | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp577 |
| c.978-?_2980+?del | p.Asn327Valfs*29 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp578 |
| c.1030_1031insGAC | p.Lys344delinsArgGln | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp513 |
| c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
| c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
| c.1371dupA | p.Leu458Thrfs*5 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp515 |
| c.1446delC | p.Tyr482* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp516 |
| c.1470_1471delGG | p.Ala491Thrfs*3 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp521 |
| c.1547_1554del8 | p.Tyr516Phefs*2 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp522 |
| c.1581del | p.Thr528Profs*44 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp523 |
| c.1612A>G | p.Thr538Ala | variant of uncertain significance | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp524 |
| c.1612A>G | p.Thr538Ala | variant of uncertain significance | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp524 |
| c.1671dupA | p.Arg558Thrfs*9 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp526 |
| c.1782T>G | p.Tyr594* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp527 |
| c.1791delC | p.Tyr598Thrfs*18 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp528 |
| c.2038A>T | p.Lys680* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp529 |
| c.2047-2A>G | p.Gly683Cysfs*66 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp530 |
| c.2072_2073delCT | p.Ser691* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp531 |
| c.2258_2259delAA | p.Gln753Profs*10 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp535 |
| c.2276+1G>A | p.Val718_Trp759delinsGly | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp536 |
| c.2374dupA | p.Thr792Asnfs*9 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp537 |
| c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp539 |
| c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp539 |
| c.2420_2430del | p.Ser807Cysfs*2 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp540 |
| c.2420_2430del | p.Ser807Cysfs*2 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp540 |
| c.2477-?_2713+?del | p.Ser833Thrfs*22 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp541 |
| c.2477-?_2713+?del | p.Ser833Thrfs*22 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp542 |
| c.2684C>T | p.Pro895Leu | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp544 |
| c.2711delC | p.Pro904Glnfs*23 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp545 |
Displaying 78 entries
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
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Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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