CDKL5 Proband List
cDNA name | Protein name | Pathogenicity | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.197_198delCT | p.Leu67Glnfs*23 | pathogenic variant | Rett syndrome - atypical | Female | 27734276 Gokben, S. et al (2017) | cp585 |
c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome | Female | 27599155 Lilles S et al (2016) | cp583 |
c.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp581 |
c.2152+1G>A | p.? | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp582 |
c.2225_2228del | p.Glu742Alafs*41 | pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp580 |
c.1942C>T | p.Gln648* | pathogenic variant | Not Rett syndrome | Male | 27290639 Pronicka E et al (2016) | cp579 |
c.530A>G | p.Tyr177Cys | variant of uncertain significance | Not Rett syndrome | Female | 27265524 Christianto, A. et al (2016) | cp584 |
c.915T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp504 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp507 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp508 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp509 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp510 |
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 |
c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342] | p.[=/Val793Thrfs*22/Ser833Thrfs*22] | pathogenic variant | Not Rett syndrome - infantile spasms, CDKL5-related phenotype | Female | 24715584 Boutry-Kryza et al (2014) | cp419 |
c.234delA | p.Arg80Valfs*33 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp451 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - infantile spasms | Male | 24564546 Zhao et al (2014) | cp449 |
c.890_891dupTT | p.Gln298Phefs*53 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp447 |
c.890_891dupTT | p.Gln298Phefs*53 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp448 |
c.1111delC | p.Ala372Leufs*121 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp445 |
c.1790dupG | p.Tyr598Leufs*13 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp446 |
c.2360delA | p.Lys787Argfs*16 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp450 |
c.2830C>A | p.Pro944Thr | likely benign variant | Rett syndrome - atypical | Female | 23756444 Diebold et al (2014) | cp435 |
c.2830C>A | p.Pro944Thr | likely benign variant | Unaffected - unaffected family member | Male | 23756444 Diebold et al (2014) | cp436 |
c.2995G>A | p.Val999Met | benign variant | Not Rett syndrome - developmental delay (no seizures) | Female | 23756444 Diebold et al (2014) | cp433 |
c.2995G>A | p.Val999Met | benign variant | Unaffected - unaffected family member | Male | 23756444 Diebold et al (2014) | cp434 |
c.379C>T | p.His127Tyr | likely pathogenic variant | Not Rett syndrome - Lennox-Gastaut syndrome | Unknown | 23934111 Epi4K Consortium et al (2013) | cp442 |
c.638G>A | p.Gly213Glu | likely pathogenic variant | Not Rett syndrome - infantile spasms | Male | 23934111 Epi4K Consortium et al (2013) | cp443 |
c.1390C>T | p.Gln464* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23934111 Epi4K Consortium et al (2013) | cp444 |
c.-253-?_*1085del | p.Met1? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.-253-?_*1085del | p.? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.549dupA | p.Leu184Thrfs*22 | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23828526 Ermel et al (2013) | cp420 |
c.433C>T | p.His145Tyr | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp423 |
c.433C>T | p.His145Tyr | variant of uncertain significance | Unaffected - unaffected family member | Female | 23708187 Carvill et al (2013) | cp432 |
c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp427 |
c.545T>C | p.Leu182Pro | likely pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp424 |
c.620G>A | p.Gly207Glu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp428 |
c.1741C>T | p.His581Tyr | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp430 |
c.1925delT | p.Leu642Argfs*16 | pathogenic variant | Not Rett syndrome - infantile spasms | Male | 23708187 Carvill et al (2013) | cp426 |
c.1925delT | p.Leu642Argfs*16 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp429 |
c.2564C>G | p.Ser855* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23708187 Carvill et al (2013) | cp425 |
c.2572C>T | p.Arg858Cys | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp431 |
c.2494C>T | p.Gln832* | pathogenic variant | Not Rett syndrome - ISSX | Female | 23647072 Veeramah et al (2013) | cp417 |
c.62A>G | p.Glu21Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp416 |
c.65-?_99+?del | p.(Ala23Asnfs*3) | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp415 |
c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp413 |
c.513C>A | p.Tyr171* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp411 |
c.578A>G | p.Asp193Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp409 |
c.578A>G | p.Asp193Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 23583054 Mirzaa et al (2013) | cp410 |
c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp412 |
c.2413C>T | p.Gln805* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp412 |
c.2593C>T | p.Gln865* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp414 |
c.[1767C>T(;)2995G>A] | p.[=(;)Val999Met] | benign variant | Rett syndrome - atypical (early seizure variant) | Female | 23242510 Das et al (2013) | cp439 |
c.2200A>G | p.Thr734Ala | variant of uncertain significance | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp441 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp440 |
c.2896G>A | p.Val966Ile | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp437 |
c.3032C>T | p.Ala1011Val | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp438 |
c.283-3_290del11 | p.Asn95Ilefs*2 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp407 |
c.656A>C | p.Gln219Pro | likely pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp405 |
c.660_664dup | p.Thr222Ilefs*8 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp406 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp408 |
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 |
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-162-?_64+?del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp344 |
c.207_213del7 | p.Glu70Leufs*4 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp343 |
c.403+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp345 |
c.1375C>T | p.Gln459* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp347 |
c.2046+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp346 |
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 |
c.2277-2A>G | p.? | pathogenic variant | Not Rett syndrome - infantile-onset seizure | Female | 22812903 Paine et al (2012) | cp299 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - ISSX | Female | 22678952 Bahi-Buisson et al (2012) | cp452 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp453 |
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp456 |
c.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp457 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp455 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp454 |
c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp458 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp459 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - ISSX | Female | 22678952 Bahi-Buisson et al (2012) | cp460 |
c.464-1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22670143 Willemsen et al (2012) | cp342 |
c.404-?_554+?del | p.(Asp135Alafs*43) | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp337 |
c.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp341 |
c.942delA | p.Lys314Asnfs*36 | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp340 |
c.1090G>T | p.Glu364* | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp336 |
c.1854delC | p.Asp618Glufs*3 | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp339 |
c.65dupG | p.Ala23Serfs*7 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp470 |
c.587C>T | p.Ser196Leu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp498 |
c.745-?_2276+?del | p.Phe249Glufs*4 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 22264704 Moseley et al (2012) | cp495 |
c.812T>C | p.Leu271Pro | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp496 |
c.855A>C | p.Arg285Ser | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp471 |
c.2593C>T | p.Gln865* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 22264704 Moseley et al (2012) | cp497 |
c.146-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 21802232 Saitsu et al (2012) | cp205 |
c.99+5G>A | p.Ala23Asnfs*3 | pathogenic variant | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp331 |
c.275_276insAA | p.Glu93Metfs*21 | pathogenic variant | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp330 |
c.283-3_290del11 | p.Asn95Ilefs*2 | pathogenic variant | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp333 |
c.1784dupG | p.Leu596Thrfs*15 | pathogenic variant | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp334 |
c.2105_2106delAC | p.His702Profs*4 | pathogenic variant | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp332 |
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 |
c.283-99C>A | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp217 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp218 |
c.1767C>T | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp216 |
c.2854C>T | p.Arg952* | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp206 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - unaffected family member | Female | 21775177 Intusoma et al (2011) | cp207 |
c.2854C>T | p.Arg952* | benign variant | Not Rett syndrome - mild mental retardation | Female | 21775177 Intusoma et al (2011) | cp208 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - unaffected family member | Female | 21775177 Intusoma et al (2011) | cp209 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp210 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp211 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp212 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp213 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp214 |
c.2854C>T | p.Arg952* | benign variant | Unaffected - normal control | Female | 21775177 Intusoma et al (2011) | cp215 |
c.2995G>A | p.Val999Met | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp219 |
c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp295 |
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
c.39delT | p.Phe13Leufs*7 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp287 |
c.146-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp297 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp288 |
c.904C>T | p.Leu302Phe | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp289 |
c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
c.1079delT | p.Leu360Profs*8 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp291 |
c.[1238C>G(;)1400A>C] | p.[Ser413*(;)His467Pro] | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp292 |
c.1675C>T | p.Arg559* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp293 |
c.2016dupC | p.Ser673Leufs*10 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp294 |
c.2377-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp298 |
c.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp223 |
c.884delC | p.Pro295Leufs*55 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp220 |
c.1082dupC | p.Ala362Cysfs*3 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp221 |
c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp224 |
c.2529delA | p.Leu843Phefs*20 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp222 |
c.404-1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21309761 Melani et al (2011) | cp226 |
c.473G>C | p.Arg158Pro | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21309761 Melani et al (2011) | cp225 |
c.[=/-253-?_99+?del] | p.[=/Met1?] | pathogenic variant | Not Rett syndrome - severe developmental delay with possible regression | Male | 21293276 Bartnik et al (2011) | cp227 |
c.[=/-253-?_2276+?del] | p.[=/Met1?] | pathogenic variant | Not Rett syndrome - severe intellectual disability, autism, intractable seizures | Female | 21293276 Bartnik et al (2011) | cp229 |
c.100-?_145+?del | p.(Glu34Lysfs*27) | pathogenic variant | Not Rett syndrome - intractable epilpsy, psychomotor retardation, hypotonia | Female | 21293276 Bartnik et al (2011) | cp228 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp282 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp283 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp284 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp285 |
c.607G>T | p.Glu203* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp280 |
c.1708G>T | p.Glu570* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp281 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp271 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp272 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp273 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp274 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp275 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp276 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp277 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp278 |
c.[3003C>T;3084G>A] | p.= | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp279 |
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 20493745 Castren et al (2011) | cp195 |
c.1278A>C | p.= | benign variant | Not Rett syndrome - autism spectrum disorder | Unknown | 20479760 Piton et al (2011) | cp230 |
c.1382A>G | p.Asn461Ser | likely benign variant | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp231 |
c.1382A>G | p.Asn461Ser | likely benign variant | Unaffected - unaffected family member | Female | 20479760 Piton et al (2011) | cp232 |
c.1523T>C | p.Ile508Thr | variant of uncertain significance | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp233 |
c.1523T>C | p.Ile508Thr | variant of uncertain significance | Unaffected - unaffected family member | Female | 20479760 Piton et al (2011) | cp234 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp235 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp236 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp237 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp238 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp239 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp240 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp241 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp242 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp243 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp244 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp245 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp246 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp247 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp248 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp249 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp250 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp251 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp252 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp253 |
c.2984T>G | p.Phe995Cys | likely benign variant | Not Rett syndrome - schizophrenia | Male | 20479760 Piton et al (2011) | cp254 |
c.3003C>T | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp255 |
c.3003C>T | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp256 |
c.3003C>T | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp257 |
c.3003C>T | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp258 |
c.3012G>T | p.Arg1004Ser | likely benign variant | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp259 |
c.3012G>T | p.Arg1004Ser | likely benign variant | Unaffected - unaffected family member | Female | 20479760 Piton et al (2011) | cp260 |
c.3084G>A | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp261 |
c.3084G>A | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp262 |
c.3084G>A | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp263 |
c.3084G>A | p.= | benign variant | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp264 |
c.[=/99+5G>A] | p.[=/Ala23Asnfs*3] | pathogenic variant | Not Rett syndrome - encephalopathy and early-onset seizures | Male | 20602487 Masliah-Plachon et al (2010) | cp140 |
c.58G>C | p.Gly20Arg | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp142 |
c.463+22T>C | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp192 |
c.463+22T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp193 |
c.554+11G>A | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp144 |
c.554+11G>A | p.= | benign variant | Unaffected - unaffected family member | Male | 20397747 White et al (2010) | cp145 |
c.587C>T | p.Ser196Leu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp143 |
c.978-23T>C | p.= | benign variant | Not Rett syndrome - neonatal seizures, severe epilepsy and mental retardation | Male | 20397747 White et al (2010) | cp190 |
c.978-23T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp191 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp147 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp148 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp149 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp150 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp151 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp152 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp153 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp154 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp155 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp156 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp157 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp158 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp159 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp160 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp161 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp162 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp163 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp164 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp165 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - unaffected family member | Male | 20397747 White et al (2010) | cp166 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp167 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp168 |
c.2376+118T>A | p.= | benign variant | Not Rett syndrome - West syndrome | Male | 20397747 White et al (2010) | cp169 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp170 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp171 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp172 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp173 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp174 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp175 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp176 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp177 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp178 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp179 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp180 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp181 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp182 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp183 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp184 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp185 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp186 |
c.2376+118T>A | p.= | benign variant | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp187 |
c.2377-31T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp188 |
c.2377-31T>C | p.= | benign variant | Unaffected - unaffected family member | Female | 20397747 White et al (2010) | cp189 |
c.2504delC | p.Pro835Hisfs*2 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp146 |
c.-253-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 19807736 Cordova-Fletes et al (2010) | cp141 |
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-253-?_825+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp204 |
c.-162-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp201 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp199 |
c.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp200 |
c.404-1385_554+59del | p.(Asp135Alafs*43) | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp203 |
c.964dupA | p.Thr322Asnfs*4 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp198 |
c.2066delC | p.Pro689Hisfs*95 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp197 |
c.-253-?_-162-27968del | p.? | pathogenic variant | Rett syndrome - early onset seizures | Female | 19455595 Bahi-Buisson et al (2010) | cp139 |
c.2908C>T | p.Arg970* | variant of uncertain significance | Rett syndrome - atypical | Female | 19428276 Psoni et al (2010) | cp194 |
c.211A>G | p.Asn71Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp338 |
c.395T>G | p.Val132Gly | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
c.395T>G | p.Val132Gly | variant of uncertain significance | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp335 |
c.609G>C | p.Glu203Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp462 |
c.1039C>T | p.Gln347* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
c.1039C>T | p.Gln347* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp92 |
c.-162-2A>G | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp93 |
c.100-2A>G | p.Glu34Lysfs*27 | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp94 |
c.458A>G | p.Asp135_Phe154del | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp95 |
c.463+1G>A | p.Asp135_Phe154del | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp96 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
c.533G>C | p.Arg178Pro | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp97 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp101 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 19793311 Nemos et al (2009) | cp103 |
c.680T>G | p.Leu227Arg | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp99 |
c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp100 |
c.1892T>C | p.Ile631Thr | likely benign variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp102 |
c.1892T>C | p.Ile631Thr | likely benign variant | Unaffected - unaffected family member | Female | 19793311 Nemos et al (2009) | cp104 |
c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 19740913 Ricciardi et al (2009) | cp107 |
c.403+49_403+53delTTAAG | p.= | likely benign variant | Not Rett syndrome - Early-onset myoclonic epilepsy | Female | 19734009 Nabbout et al (2009) | cp108 |
c.191T>C | p.Leu64Pro | likely pathogenic variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp106 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp105 |
c.-253-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp266 |
c.-162-?_145+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp267 |
c.-162-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp268 |
c.215T>C | p.Ile72Thr | likely pathogenic variant | Rett syndrome - atypical | Female | 19396824 Saletti et al (2009) | cp138 |
c.215T>C | p.Ile72Thr | likely pathogenic variant | Rett syndrome - atypical | Female | 19396824 Saletti et al (2009) | cp138 |
c.1196A>C | p.Asn399Thr | variant of uncertain significance | Rett syndrome - early-onset seizures | Female | 19253388 Sprovieri et al (2009) | cp136 |
c.-162-?_99+?del | p.Met1? | pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp109 |
c.99+29T>G | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp130 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp131 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp132 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp133 |
c.145+4AT(11_13) | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp134 |
c.380A>G | p.His127Arg | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp111 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | benign variant | Not known | Female | 19241098 Russo et al (2009) | cp127 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | benign variant | Unaffected - unaffected family member | Female | 19241098 Russo et al (2009) | cp128 |
c.555-19C>G | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp125 |
c.555-19C>G | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp126 |
c.902_903dupGA | p.Leu302Aspfs*49 | pathogenic variant | Not Rett syndrome - Angelman syndrome | Female | 19241098 Russo et al (2009) | cp110 |
c.2046+79G>A | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp135 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp113 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp114 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp115 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp116 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp117 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp118 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp119 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp120 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp121 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp122 |
c.2372A>C | p.Gln791Pro | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp123 |
c.2376+5G>A | p.? | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp112 |
c.2767C>T | p.Arg923Cys | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp124 |
c.*15C>T | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp129 |
c.[1675C>T];[=] | p.[Arg559*];[=] | pathogenic variant | Rett syndrome - early-onset seizures | Male | 19161156 Sartori et al (2009) | cp137 |
c.2497-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 18564362 Nishimura et al (2009) | cp270 |
c.533G>C | p.Arg178Pro | pathogenic variant | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp91 |
c.863C>T | p.Thr288Ile | pathogenic variant | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp90 |
c.872G>A | p.Cys291Tyr | variant of uncertain significance | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp89 |
c.872G>A | p.Cys291Tyr | pathogenic variant | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp89 |
c.64+2delT | p.? | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp77 |
c.99+1G>T | p.Ala23Asnfs*3 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp78 |
c.145+2T>C | p.? | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp79 |
c.229_232delGAAG | p.Glu77Hisfs*35 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp67 |
c.352C>T | p.Gln118* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp64 |
c.425T>A | p.Leu142* | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp65 |
c.555-19C>G | p.= | benign variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp81 |
c.555-19C>G | p.= | benign variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp82 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp83 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp84 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp85 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp86 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp87 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp88 |
c.801_802delTA | p.Asn267Lysfs*5 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp68 |
c.867dupA | p.Gln290Thrfs*36 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp69 |
c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp70 |
c.1892_1893dupTA | p.Gly632* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp71 |
c.2016delC | p.Ser673Leufs*111 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp73 |
c.2045_2046delAGins18 | p.Glu682Glyfs*12 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp72 |
c.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp80 |
c.2325_2326delGA | p.Lys776Alafs*24 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp74 |
c.2500C>T | p.Gln834* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp66 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp75 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp76 |
c.145+2T>C | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp63 |
c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp62 |
c.119C>T | p.Ala40Val | pathogenic variant | Rett syndrome - early seizure | Female | 17993579 Rosas-Vargas et al (2008) | cp57 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy with infantile spasms | Female | 17993579 Rosas-Vargas et al (2008) | cp58 |
c.194G>A | p.Arg65Gln | benign variant | Rett syndrome - atypical (not early-onset seizures) | Female | 17993579 Rosas-Vargas et al (2008) | cp60 |
c.194G>A | p.Arg65Gln | benign variant | Unaffected - unaffected family member | Male | 17993579 Rosas-Vargas et al (2008) | cp61 |
c.659T>C | p.Leu220Pro | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy with infantile spasms | Female | 17993579 Rosas-Vargas et al (2008) | cp59 |
c.-253-?_977+?del | p.Met1? | pathogenic variant | Not Rett syndrome - severe encephalopathy | Male | 17256798 Van Esch et al (2007) | cp269 |
c.216T>A | p.= | benign variant | Rett syndrome - atypical | Female | 17089071 Li et al (2007) | cp56 |
c.[2500C>T;2995G>A] | p.Gln834* | pathogenic variant | Rett syndrome - early seizure | Female | 16813600 Nectoux et al (2006) | cp54 |
c.2995G>A | p.Val999Met | benign variant | Unaffected - unaffected family member | Female | 16813600 Nectoux et al (2006) | cp55 |
c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp48 |
c.404-1G>T | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 16611748 Archer et al (2006) | cp43 |
c.539C>T | p.Pro180Leu | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp49 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp52 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp53 |
c.678_691conNM_003159.2:c.673_683inv | p.Gly228_Pro231delinsAlaProSer | variant of uncertain significance | Not Rett syndrome - X-linked West syndrome/autism | Female | 16611748 Archer et al (2006) | cp47 |
c.978-49_978-41del9 | p.? | likely benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp51 |
c.978-2A>G | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp44 |
c.2363_2367delAGAAA | p.Lys788Ilefs*11 | pathogenic variant | Not Rett syndrome - X-linked West syndrome/autism | Female | 16611748 Archer et al (2006) | cp46 |
c.2376+1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp45 |
c.2378T>C | p.Val793Ala | variant of uncertain significance | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp50 |
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 |
c.838_847del10 | p.Asp281Thrfs*4 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp21 |
c.2343delG | p.Arg781Serfs*3 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp22 |
c.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp19 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp20 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp5 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp6 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp7 |
c.455G>T | p.Cys152Phe | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp8 |
c.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp9 |
c.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp10 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp11 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp12 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp13 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp14 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp15 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp16 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp17 |
c.2372A>C | p.Gln791Pro | benign variant | Unaffected - normal control | Unknown | 15499549 Tao et al (2004) | cp18 |
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Not Rett syndrome - sporadic mental retardation | Male | 15492925 Weaving et al (2004) | cp1 |
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp2 |
c.183delT | p.Met63Cysfs*13 | pathogenic variant | Not Rett syndrome - autism only | Female | 15492925 Weaving et al (2004) | cp3 |
c.2047-1G>A | p.Gly683Valfs*101 | pathogenic variant | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp4 |
c.1684A>G | p.Thr562Ala | variant of uncertain significance | Not Rett syndrome - infantile spasms, developmental delay ( fine motor, speech), acquired microcephaly | Female | Directly submitted | cp499 |
c.65G>T | p.Gly22Val | variant of uncertain significance | Not Rett syndrome - intractible epilepsy, severe delay | Female | Directly submitted | cp489 |
c.248G>T | p.Gly83Val | variant of uncertain significance | Not known | Female | Directly submitted | cp485 |
c.380A>G | p.His127Arg | likely pathogenic variant | Not known | Female | Directly submitted | cp473 |
c.380A>G | p.His127Arg | likely pathogenic variant | Not Rett syndrome - early onset seizures | Female | Directly submitted | cp483 |
c.[=/518C>A] | p.[=/Ala173Asp] | likely pathogenic variant | Rett syndrome - Rett-like male | Male | Directly submitted | cp491 |
c.555-19C>G | p.= | benign variant | Rett syndrome - atypical | Female | Directly submitted | cp474 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | Directly submitted | cp481 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe mental retardation and early seizures | Female | Directly submitted | cp484 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | Directly submitted | cp490 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - not certain | Female | Directly submitted | cp492 |
c.593G>A | p.Gly198Asp | variant of uncertain significance | Not Rett syndrome - Rett-like | Female | Directly submitted | cp487 |
c.620G>A | p.Gly207Glu | likely pathogenic variant | Not Rett syndrome - epilepsy | Female | Directly submitted | cp478 |
c.1612A>G | p.Thr538Ala | variant of uncertain significance | Rett syndrome - male variant | Male | Directly submitted | cp486 |
c.1612A>G | p.Thr538Ala | variant of uncertain significance | Rett syndrome - male variant | Male | Directly submitted | cp486 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - early onset refractory epileptic encephalopathy | Male | Directly submitted | cp476 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - severe mental retardation and autism | Female | Directly submitted | cp477 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - developmental delay and infantile spasms | Male | Directly submitted | cp480 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - developmental delay and infantile spasms | Female | Directly submitted | cp488 |
c.[2372A>C];[2372A>C] | p.[Gln791Pro];[Gln791Pro] | benign variant | Rett syndrome - early-onset seizures | Female | Directly submitted | cp494 |
c.[=/2420_2430del] | p.[=/Ser807Cysfs*2] | pathogenic variant | Not Rett syndrome - developmental delay | Male | Directly submitted | cp493 |
c.2497-?_2713+?del | p.Ser855Thrfs*22 | pathogenic variant | Not Rett syndrome - epilepsy, intellectual disability | Female | Directly submitted | cp482 |
c.2564C>G | p.Ser855* | pathogenic variant | Not Rett syndrome - early onset seizures | Female | Directly submitted | cp475 |
c.[3003C>T;3084G>A] | p.= | benign variant | Not Rett syndrome - developmental delay and seizures | Female | Directly submitted | cp479 |
c.554+11G>A | p.= | benign variant | Rett syndrome - atypical | Female | Directly submitted | cp472 |
c.125A>G | p.Lys42Arg | pathogenic variant | Not known | Female | Directly submitted | cp465 |
c.199C>T | p.Leu67Phe | variant of uncertain significance | Not known | Female | Directly submitted | cp468 |
c.549dupA | p.Leu184Thrfs*22 | pathogenic variant | Not known | Female | Directly submitted | cp469 |
c.1675C>T | p.Arg559* | pathogenic variant | Not known | Female | Directly submitted | cp466 |
c.1954C>T | p.Gln652* | pathogenic variant | Not known | Female | Directly submitted | cp467 |
c.2530delC | p.His844Ilefs*19 | pathogenic variant | Rett syndrome - classical | Female | Directly submitted | cp464 |
c.532C>T | p.Arg178Trp | likely pathogenic variant | Rett syndrome - congenital onset | Female | Directly submitted | cp265 |
c.-253-?_99+?del | p.Met1? | pathogenic variant | Rett syndrome - atypical | Female | Directly submitted | cp286 |
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