CDKL5 Proband List
| cDNA name | Protein name | Pathogenicity | Phenotype | Gender | Reference | Proband ID |
|---|---|---|---|---|---|---|
| c.-440G>T | p.= | variant of uncertain significance | Rett syndrome - Rett-like male | Male | 16015284 Evans et al (2005) | cp23 |
| c.-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 | 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.-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.-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.-253-?_-162-27968del | p.? | pathogenic variant | Rett syndrome - early onset seizures | Female | 19455595 Bahi-Buisson et al (2010) | cp139 |
| 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-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp266 |
| c.-253-?_99+?del | p.Met1? | pathogenic variant | Rett syndrome - atypical | Female | Directly submitted | cp286 |
| c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
| 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.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
| c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
| c.-253-?_*1085del | p.Met1? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
| c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
| c.-253-?_825+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp204 |
| 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.-253-?_977+?del | p.Met1? | pathogenic variant | Not Rett syndrome - severe encephalopathy | Male | 17256798 Van Esch et al (2007) | cp269 |
| c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp92 |
| c.-253-?_-163+?del | p.0? | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp295 |
| c.-253-?_64+?del | p.Met1? | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | Roche Martinez et al (2012) | cp377 |
| c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
| c.-253-?_*1085del | p.? | 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 - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
| c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
| c.-253-?_*1085del | p.? | pathogenic variant | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
| c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
| c.-189C>T | p.= | variant of uncertain significance | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp28 |
| 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 | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp109 |
| c.-162-?_99+?del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp268 |
| c.-162-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp201 |
| c.-162-?_64+?del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp344 |
| c.-162-?_99+? | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp525 |
| c.-162-2A>G | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp93 |
| c.38T>C | p.Phe13Ser | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp551 |
| c.39delT | p.Phe13Leufs*7 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp287 |
| c.58G>C | p.Gly20Arg | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp142 |
| c.59G>A | p.Gly20Asp | likely pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp348 |
| c.62A>G | p.Glu21Gly | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp416 |
| 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.64+1G>A | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp566 |
| c.64+2delT | p.? | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp77 |
| c.64+2T>C | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp567 |
| c.65-?_99+?del | p.(Ala23Asnfs*3) | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp415 |
| c.65dupG | p.Ala23Serfs*7 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp470 |
| c.65G>T | p.Gly22Val | variant of uncertain significance | Not Rett syndrome - intractible epilepsy, severe delay | Female | Directly submitted | cp489 |
| c.65-?_1944+?dup | p.? | variant of uncertain significance | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp568 |
| c.91A>G | p.Arg31Gly | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp359 |
| 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.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.[=/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.99+29T>G | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp130 |
| 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.100-9_100-3delCCCTTGCinsGCAGA | p.Lys33dup | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp512 |
| c.100-2A>G | p.Glu34Lysfs*27 | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp94 |
| 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.100-?_*1085del | p.? | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp511 |
| 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.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp199 |
| 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.125A>G | p.Lys42Arg | pathogenic variant | Not known | Female | Directly submitted | cp465 |
| c.145+2T>C | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp63 |
| c.145+2T>C | p.? | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp79 |
| c.145+4AT[13] | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp36 |
| 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.145+4AT[15] | p.= | benign variant | Unaffected - normal control | Male | 16015284 Evans et al (2005) | cp37 |
| 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.[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.[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.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-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 21802232 Saitsu et al (2012) | cp205 |
| c.146-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp297 |
| 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.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp19 |
| c.163_166delGAAA | p.Glu55Argfs*20 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp200 |
| c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp48 |
| c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 19740913 Ricciardi et al (2009) | cp107 |
| c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 20493745 Castren et al (2011) | cp195 |
| c.175C>T | p.Arg59* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp413 |
| c.175C>T | p.Arg59* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp456 |
| 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.191T>C | p.Leu64Pro | likely pathogenic variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp106 |
| 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.197_198delCT | p.Leu67Glnfs*23 | pathogenic variant | Rett syndrome - atypical | Female | 27734276 Gokben, S. et al (2017) | cp585 |
| c.199C>T | p.Leu67Phe | variant of uncertain significance | Not known | Female | Directly submitted | cp468 |
| c.207_213del7 | p.Glu70Leufs*4 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp343 |
| c.211A>G | p.Asn71Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp338 |
| 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 Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp532 |
| 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 Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp532 |
| c.215T>A | p.Ile72Asn | pathogenic variant | Rett syndrome - early seizure | Female | 16015284 Evans et al (2005) | cp31 |
| 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 | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
| 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 | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp533 |
| c.216T>A | p.= | benign variant | Rett syndrome - atypical | Female | 17089071 Li et al (2007) | cp56 |
| c.220G>T | p.Glu74* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp534 |
| 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.234delA | p.Arg80Valfs*33 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp451 |
| c.248G>T | p.Gly83Val | variant of uncertain significance | Not known | Female | Directly submitted | cp485 |
| 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.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.283-43G>A | p.= | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp38 |
| 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.283-3_290del11 | p.Asn95Ilefs*2 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp407 |
| c.283-99C>A | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp217 |
| 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.351T>A | p.Tyr117* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp548 |
| c.352C>T | p.Gln118* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp64 |
| 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.379C>T | p.His127Tyr | likely pathogenic variant | Not Rett syndrome - Lennox-Gastaut syndrome | Unknown | 23934111 Epi4K Consortium et al (2013) | cp442 |
| c.380A>G | p.His127Arg | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp111 |
| 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.395T>G | p.Val132Gly | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
| 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 | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp463 |
| c.395T>G | p.Val132Gly | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp552 |
| c.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp223 |
| c.400C>T | p.Arg134* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp457 |
| c.403+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp345 |
| c.403+27A>G | p.= | likely benign variant | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp318 |
| c.403+49_403+53delTTAAG | p.= | likely benign variant | Not Rett syndrome - Early-onset myoclonic epilepsy | Female | 19734009 Nabbout et al (2009) | cp108 |
| 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.[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.404-3C>A | p.(=) | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp553 |
| c.404-1G>T | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 16611748 Archer et al (2006) | cp43 |
| c.404-1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21309761 Melani et al (2011) | cp226 |
| c.404-?_554+?del | p.(Asp135Alafs*43) | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp337 |
| c.404A>G | p.Asp135Gly | likely pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp554 |
| 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.425T>A | p.Leu142* | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp65 |
| c.428T>A | p. Ile143Asn | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp555 |
| 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.455G>T | p.Cys152Phe | pathogenic variant | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp8 |
| c.456_457delTG | p.Cys152* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp556 |
| c.458A>G | p.Asp135_Phe154del | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp95 |
| c.458A>T | p. Asp153Val | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp557 |
| c.463+1G>A | p.Asp135_Phe154del | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp96 |
| c.463+22T>C | p.= | benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp40 |
| 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.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 - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
| 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 - severe epileptic encephalopathy | Female | 16015284 Evans et al (2005) | cp29 |
| 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 | Male | 25657822 Fehr S et al (2015) | cp558 |
| c.464-1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22670143 Willemsen et al (2012) | cp342 |
| c.473G>C | p.Arg158Pro | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21309761 Melani et al (2011) | cp225 |
| 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.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 - early-onset seizures | Male | 23064044 Raymond et al (2013) | cp357 |
| c.506_507delCA | p.Thr168Argfs*36 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp559 |
| c.510_511dup | p.Tyr171Cysfs*58 | pathogenic variant | Rett syndrome - early-onset seizures | Female | 22867051 Maortua et al (2012) | cp300 |
| c.513C>A | p.Tyr171* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp411 |
| c.514G>A | p.Val172Ile | likely pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp560 |
| c.[=/518C>A] | p.[=/Ala173Asp] | likely pathogenic variant | Rett syndrome - Rett-like male | Male | Directly submitted | cp491 |
| 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.525A>T | p.Arg175Ser | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp341 |
| c.526T>G | p.Trp176Gly | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp360 |
| c.526T>C | p.Trp176Arg | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp561 |
| c.528G>T | p.Trp176Cys | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | Roche Martinez et al (2012) | cp378 |
| c.530A>G | p.Tyr177Cys | variant of uncertain significance | Not Rett syndrome | Female | 27265524 Christianto, A. et al (2016) | cp584 |
| c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
| c.532C>T | p.Arg178Trp | likely pathogenic variant | Rett syndrome - congenital onset | Female | Directly submitted | cp265 |
| c.532C>T | p.Arg178Trp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp335 |
| c.532C>T | p.Arg178Trp | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp455 |
| c.533G>C | p.Arg178Pro | pathogenic variant | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp91 |
| c.533G>C | p.Arg178Pro | pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp97 |
| c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp288 |
| c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp427 |
| c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - infantile spasms | Male | 24564546 Zhao et al (2014) | cp449 |
| c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp454 |
| c.536C>T | p. Ser179Phe | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp562 |
| c.539C>T | p.Pro180Leu | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp49 |
| c.545T>C | p.Leu182Pro | likely pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp424 |
| c.549dupA | p.Leu184Thrfs*22 | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23828526 Ermel et al (2013) | cp420 |
| c.549dupA | p.Leu184Thrfs*22 | pathogenic variant | Not known | Female | Directly submitted | cp469 |
| 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.554+11G>A | p.= | benign variant | Rett syndrome - atypical | Female | Directly submitted | cp472 |
| 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.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.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.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.555-19C>G | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp218 |
| 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.556_557delGC | p.Ala186Serfs*19 | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp563 |
| 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.577G>C | p.Asp193His | likely pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp564 |
| 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.587C>T | p.Ser196Leu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp143 |
| c.587C>T | p.Ser196Leu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp498 |
| c.593G>A | p.Gly198Asp | variant of uncertain significance | Not Rett syndrome - Rett-like | Female | Directly submitted | cp487 |
| c.595T>C | p.Cys199Arg | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp565 |
| c.607G>T | p.Glu203* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp280 |
| c.609G>C | p.Glu203Asp | likely pathogenic variant | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp462 |
| c.620G>A | p.Gly207Glu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp428 |
| c.620G>A | p.Gly207Glu | likely pathogenic variant | Not Rett syndrome - epilepsy | Female | Directly submitted | cp478 |
| c.638G>A | p.Gly213Glu | likely pathogenic variant | Not Rett syndrome - infantile spasms | Male | 23934111 Epi4K Consortium et al (2013) | cp443 |
| c.656A>C | p.Gln219Pro | likely pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp405 |
| 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.660_664dup | p.Thr222Ilefs*8 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp406 |
| c.670C>T | p.Gln224* | pathogenic variant | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp569 |
| 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.680T>G | p.Leu227Arg | likely pathogenic variant | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp99 |
| c.745-2A>G | p.Phe249_Lys275del | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp571 |
| c.745-?_825+?del | p.Phe249_Lys275del | pathogenic variant | Not Rett syndrome - infantile-onset seizures | Female | 22867051 Maortua et al (2012) | cp301 |
| c.745-?_2276+?del | p.Phe249Glufs*4 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 22264704 Moseley et al (2012) | cp495 |
| c.745-?_977+?del | p.Phe249Lysfs*16 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp570 |
| 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.801_802delAT | p.Asn267Lysfs*5 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp572 |
| c.812T>C | p.Leu271Pro | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp496 |
| 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.838_847del10 | p.Asp281Thrfs*4 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp21 |
| c.855A>C | p.Arg285Ser | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Female | 22264704 Moseley et al (2012) | cp471 |
| 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.863C>T | p.Thr288Ile | pathogenic variant | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp90 |
| c.867dupA | p.Gln290Thrfs*36 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp69 |
| 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 | 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 - Severe encephalopathy and early-onset seizures | Male | 18809835 Elia et al (2008) | cp89 |
| c.872G>A | p.Cys291Tyr | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp577 |
| c.884delC | p.Pro295Leufs*55 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp220 |
| 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.902_903dupGA | p.Leu302Aspfs*49 | pathogenic variant | Not Rett syndrome - Angelman syndrome | Female | 19241098 Russo et al (2009) | cp110 |
| c.904C>T | p.Leu302Phe | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp289 |
| c.915T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp504 |
| c.942delA | p.Lys314Asnfs*36 | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp340 |
| c.964dupA | p.Thr322Asnfs*4 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp198 |
| c.978-49_978-41del9 | p.? | likely benign variant | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp51 |
| 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.978-2A>G | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp44 |
| c.978-?_2980+?del | p.Asn327Valfs*29 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp578 |
| c.1008_1029del22 | p.Ser337Argfs*6 | pathogenic variant | Not Rett syndrome - early-onset seizures | Female | 23064044 Raymond et al (2013) | cp358 |
| 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 - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
| 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 | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
| 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 | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
| c.1039C>T | p.Gln347* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
| c.1071delC | p.Asp357Glufs*11 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp350 |
| c.1079delT | p.Leu360Profs*8 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp291 |
| c.1082dupC | p.Ala362Cysfs*3 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp221 |
| c.1090G>T | p.Glu364* | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp336 |
| c.1111delC | p.Ala372Leufs*121 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp445 |
| c.1196A>C | p.Asn399Thr | variant of uncertain significance | Rett syndrome - early-onset seizures | Female | 19253388 Sprovieri et al (2009) | cp136 |
| c.[1238C>G(;)1400A>C] | p.[Ser413*(;)His467Pro] | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp292 |
| c.1247_1248del | p.Glu416Valfs*2 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp354 |
| c.1266C>A | p.Asp422Glu | variant of uncertain significance | Rett syndrome - atypical, preserved speech | Female | Roche Martinez et al (2012) | cp376 |
| c.1278A>C | p.= | benign variant | Not Rett syndrome - autism spectrum disorder | Unknown | 20479760 Piton et al (2011) | cp230 |
| c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp70 |
| c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 19793311 Nemos et al (2009) | cp100 |
| 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.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.1341delC | p.Phe447Leufs*46 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | Roche Martinez et al (2012) | cp375 |
| c.1371dupA | p.Leu458Thrfs*5 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp515 |
| c.1375C>T | p.Gln459* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp347 |
| 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.1390C>T | p.Gln464* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23934111 Epi4K Consortium et al (2013) | cp444 |
| 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.1417dupA | p.Ile473Asnfs*6 | pathogenic variant | Rett syndrome - atypical, congenital | Female | Roche Martinez et al (2012) | cp381 |
| 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.1446delC | p.Tyr482* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp516 |
| 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.1470_1471delGG | p.Ala491Thrfs*3 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp521 |
| 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.1547_1554del8 | p.Tyr516Phefs*2 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp522 |
| c.1550delT | p.Phe517Serfs*6 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | Roche Martinez et al (2012) | cp382 |
| 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 | Rett syndrome - male variant | Male | Directly submitted | cp486 |
| 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 | Rett syndrome - male variant | Male | Directly submitted | cp486 |
| c.1612A>G | p.Thr538Ala | variant of uncertain significance | Not Rett syndrome | Male | 25657822 Fehr S et al (2015) | cp524 |
| c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp62 |
| c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp224 |
| c.1648C>T | p.Arg550* | pathogenic variant | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp458 |
| c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome | Female | 27599155 Lilles S et al (2016) | cp583 |
| c.1671dupA | p.Arg558Thrfs*9 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp526 |
| c.1675C>T | p.Arg559* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp293 |
| c.1675C>T | p.Arg559* | pathogenic variant | Not known | Female | Directly submitted | cp466 |
| c.[1675C>T];[=] | p.[Arg559*];[=] | pathogenic variant | Rett syndrome - early-onset seizures | Male | 19161156 Sartori et al (2009) | cp137 |
| 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.1708G>T | p.Glu570* | pathogenic variant | Rett syndrome - early-onset seizures | Female | 21160487 Hadzsiev et al (2011) | cp281 |
| c.1741C>T | p.His581Tyr | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp430 |
| c.1767C>T | p.= | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp216 |
| c.[1767C>T(;)2995G>A] | p.[=(;)Val999Met] | benign variant | Rett syndrome - atypical (early seizure variant) | Female | 23242510 Das et al (2013) | cp439 |
| c.1782T>G | p.Tyr594* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp527 |
| 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.1790dupG | p.Tyr598Leufs*13 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp446 |
| c.1791delC | p.Tyr598Thrfs*18 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp528 |
| c.1854delC | p.Asp618Glufs*3 | pathogenic variant | Rett syndrome - Hanefeld | Female | 22430159 Pini et al (2012) | cp339 |
| c.1892_1893dupTA | p.Gly632* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp71 |
| 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.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.1942C>T | p.Gln648* | pathogenic variant | Not Rett syndrome | Male | 27290639 Pronicka E et al (2016) | cp579 |
| c.1954C>T | p.Gln652* | pathogenic variant | Not known | Female | Directly submitted | cp467 |
| c.2016delC | p.Ser673Leufs*111 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp73 |
| c.2016dupC | p.Ser673Leufs*10 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp294 |
| c.2038A>T | p.Lys680* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp529 |
| c.2045_2046delAGins18 | p.Glu682Glyfs*12 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp72 |
| c.2046+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp346 |
| c.2046+79G>A | p.= | benign variant | Not known | Unknown | 19241098 Russo et al (2009) | cp135 |
| c.2047-2A>G | p.Gly683Cysfs*66 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp530 |
| c.2047-1G>A | p.Gly683Valfs*101 | pathogenic variant | Rett syndrome - atypical | Female | 15492925 Weaving et al (2004) | cp4 |
| c.2066delC | p.Pro689Hisfs*95 | pathogenic variant | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp197 |
| c.2072_2073delCT | p.Ser691* | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp531 |
| 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.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp80 |
| c.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp581 |
| c.2152+48C>T | p.= | likely benign variant | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp41 |
| c.2152+1G>A | p.? | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp582 |
| c.2200A>G | p.Thr734Ala | variant of uncertain significance | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp441 |
| c.2225_2228del | p.Glu742Alafs*41 | pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp580 |
| 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.2277-2A>G | p.? | pathogenic variant | Not Rett syndrome - infantile-onset seizure | Female | 22812903 Paine et al (2012) | cp299 |
| 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.2325_2326delGA | p.Lys776Alafs*24 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp74 |
| c.2343delG | p.Arg781Serfs*3 | pathogenic variant | Rett syndrome - early seizure | Female | 15917271 Mari et al (2005) | cp22 |
| c.2360delA | p.Lys787Argfs*16 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp450 |
| c.2363_2367delAGAAA | p.Lys788Ilefs*11 | pathogenic variant | Not Rett syndrome - X-linked West syndrome/autism | Female | 16611748 Archer et al (2006) | cp46 |
| 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.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - severe encephalopathy and early-onset seizures | Male | 19564592 Fichou et al (2009) | cp105 |
| 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.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.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.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.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.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp440 |
| 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 | 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.[2372A>C];[2372A>C] | p.[Gln791Pro];[Gln791Pro] | benign variant | Rett syndrome - early-onset seizures | Female | Directly submitted | cp494 |
| c.2374dupA | p.Thr792Asnfs*9 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp537 |
| c.2376+1G>C | p.Lys760Tyrfs*10 | pathogenic variant | Not Rett syndrome - West syndrome | Female | 16015284 Evans et al (2005) | cp30 |
| c.2376+1G>A | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp45 |
| c.2376+5G>A | p.? | likely pathogenic variant | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp112 |
| c.2376+118T>A | p.= | benign variant | Not known | Unknown | 16015284 Evans et al (2005) | cp42 |
| 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.[=/2377-1569_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.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.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.2377-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp298 |
| c.2378T>C | p.Val793Ala | variant of uncertain significance | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp50 |
| 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.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.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 | Male | 25657822 Fehr S et al (2015) | cp539 |
| 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 | 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.[=/2420_2430del] | p.[=/Ser807Cysfs*2] | pathogenic variant | Not Rett syndrome - developmental delay | Male | Directly submitted | cp493 |
| 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.2494C>T | p.Gln832* | pathogenic variant | Not Rett syndrome - ISSX | Female | 23647072 Veeramah et al (2013) | cp417 |
| c.2497-?_2713+?del | p.Ser855Thrfs*22 | pathogenic variant | Not Rett syndrome - epilepsy, intellectual disability | Female | Directly submitted | cp482 |
| c.2497-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - West syndrome | Female | 18564362 Nishimura et al (2009) | cp270 |
| c.2500C>T | p.Gln834* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp66 |
| c.[2500C>T;2995G>A] | p.Gln834* | pathogenic variant | Rett syndrome - early seizure | Female | 16813600 Nectoux et al (2006) | cp54 |
| c.2504delC | p.Pro835Hisfs*2 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp146 |
| c.2529delA | p.Leu843Phefs*20 | pathogenic variant | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp222 |
| c.2530delC | p.His844Ilefs*19 | pathogenic variant | Rett syndrome - classical | Female | Directly submitted | cp464 |
| c.2531dupA | p.His844Glnfs*66 | pathogenic variant | Not known | Female | 23064044 Raymond et al (2013) | cp355 |
| c.2564C>G | p.Ser855* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23708187 Carvill et al (2013) | cp425 |
| c.2564C>G | p.Ser855* | pathogenic variant | Not Rett syndrome - early onset seizures | Female | Directly submitted | cp475 |
| c.2572C>T | p.Arg858Cys | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp431 |
| c.2593C>T | p.Gln865* | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp414 |
| c.2593C>T | p.Gln865* | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Male | 22264704 Moseley et al (2012) | cp497 |
| c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp20 |
| 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.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp408 |
| 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.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.2684C>T | p.Pro895Leu | variant of uncertain significance | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp544 |
| c.2704C>T | p.Gln902* | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | Roche Martinez et al (2012) | cp379 |
| c.2711delC | p.Pro904Glnfs*23 | pathogenic variant | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp545 |
| c.2714-47C>T | p.= | variant of uncertain significance | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp398 |
| c.2767C>T | p.Arg923Cys | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp124 |
| 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.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.2896G>A | p.Val966Ile | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp437 |
| c.2908C>T | p.Arg970* | variant of uncertain significance | Rett syndrome - atypical | Female | 19428276 Psoni et al (2010) | cp194 |
| c.2927C>T | p.Pro976Leu | likely benign variant | Rett syndrome - atypical, late regression | Female | Roche Martinez et al (2012) | cp380 |
| c.2928G>A | p.= | benign variant | Not known | Female | 23064044 Raymond et al (2013) | cp356 |
| c.2984T>G | p.Phe995Cys | likely benign variant | Not Rett syndrome - schizophrenia | Male | 20479760 Piton et al (2011) | cp254 |
| c.2995G>A | p.Val999Met | benign variant | Unaffected - unaffected family member | Female | 16813600 Nectoux et al (2006) | cp55 |
| c.2995G>A | p.Val999Met | benign variant | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp219 |
| 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.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.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.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.[3003C>T;3084G>A] | p.= | benign variant | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp279 |
| c.[3003C>T;3084G>A] | p.= | benign variant | Not Rett syndrome - developmental delay and seizures | Female | Directly submitted | cp479 |
| 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.3032C>T | p.Ala1011Val | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp438 |
| 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.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.*15C>T | p.= | variant of uncertain significance | Not known | Unknown | 19241098 Russo et al (2009) | cp129 |
| 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 |
Displaying 605 entries
To limit/filter the entries shown in this table (or to change the fields displayed), please go to the proband search page.
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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