CDKL5 Proband List



cDNA name Protein name Pathogenicity Phenotype Gender Reference Proband ID
c.65-?_99+?del p.(Ala23Asnfs*3) pathogenic variant Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp415
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-?_554+?del p.(Asp135Alafs*43) pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp337
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.-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.-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.-189C>T p.= variant of uncertain significance Rett syndrome - not certain Female 16015284 Evans et al (2005) cp28
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.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.100-73C>T;c.145+17A>G; c.146-98A>G; c.404-57T>C; c.2153-47_2153-38del10; c.30 p.= benign variant Not Rett syndrome - epileptic encephalopathy Male 27187038 et al () cp500
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.145+17A>G;c.146-98A>G;c.404-57T>C;c.2153-47_2153-38del10; c.3003C>T;c.3084G>A p.= benign variant Not Rett syndrome - West syndrome Male 27187038 et al () cp501
c.216T>A p.= benign variant Rett syndrome - atypical Female 17089071 Li et al (2007) cp56
c.283-43G>A p.= likely benign variant Rett syndrome - not certain Female 16015284 Evans et al (2005) cp38
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.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.[404-53T>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.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.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.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.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.915T>C p.= benign variant Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp504
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.1278A>C p.= benign variant Not Rett syndrome - autism spectrum disorder Unknown 20479760 Piton et al (2011) cp230
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.1767C>T p.= benign variant Not Rett syndrome - infantile intractable epilepsy Female 21775177 Intusoma et al (2011) cp216
c.2046+79G>A p.= benign variant Not known Unknown 19241098 Russo et al (2009) cp135
c.2152+48C>T p.= likely benign variant Rett syndrome - not certain Female 16015284 Evans et al (2005) cp41
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.2377-31T>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.2541G>A p.= benign variant Not Rett syndrome - non-progressive encephalopathy Female 27187038 et al () cp506
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.2714-47C>T p.= variant of uncertain significance Rett syndrome - not certain Female Roche Martinez et al (2012) cp398
c.2928G>A p.= benign variant Not known Female 23064044 Raymond et al (2013) cp356
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.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
c.-253-?_-162-27968del p.? pathogenic variant Rett syndrome - early onset seizures Female 19455595 Bahi-Buisson et al (2010) cp139
c.64+2delT p.? pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp77
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.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.403+1G>A p.? pathogenic variant Rett syndrome - early-onset seizure Female 22982301 Zhang et al (2012) cp345
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.464-1G>A p.? pathogenic variant Rett syndrome - early-onset seizure Female 22670143 Willemsen et al (2012) cp342
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.2046+1G>A p.? pathogenic variant Rett syndrome - early-onset seizure Female 22982301 Zhang et al (2012) cp346
c.2277-2A>G p.? pathogenic variant Not Rett syndrome - infantile-onset seizure Female 22812903 Paine et al (2012) cp299
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.2377-?_*1085del p.? pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp298
c.2497-?_*1085del p.? pathogenic variant Not Rett syndrome - West syndrome Female 18564362 Nishimura et al (2009) cp270
c.3032C>T p.Ala1011Val likely benign variant Rett syndrome - atypical Female 23242510 Das et al (2013) cp438
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.65dupG p.Ala23Serfs*7 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp470
c.1082dupC p.Ala362Cysfs*3 pathogenic variant Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp221
c.1111delC p.Ala372Leufs*121 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp445
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.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.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.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.473G>C p.Arg158Pro likely pathogenic variant Not Rett syndrome - epileptic encephalopathy Male 21309761 Melani et al (2011) cp225
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.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.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.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.855A>C p.Arg285Ser variant of uncertain significance Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp471
c.902_977+29del105 p.Arg301Lysfs*24 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp503
c.91A>G p.Arg31Gly pathogenic variant Not Rett syndrome - early-onset seizures Female 23064044 Raymond et al (2013) cp359
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.1432_1433insT p.Arg478Metfs*17 pathogenic variant Not known Female 23064044 Raymond et al (2013) cp353
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.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.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.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.2343delG p.Arg781Serfs*3 pathogenic variant Rett syndrome - early seizure Female 15917271 Mari et al (2005) cp22
c.234delA p.Arg80Valfs*33 pathogenic variant Not Rett syndrome - early-onset epileptic encephalopathy Female 24564546 Zhao et al (2014) cp451
c.2572C>T p.Arg858Cys variant of uncertain significance Not Rett syndrome - uncertain Unknown 23708187 Carvill et al (2013) cp431
c.2767C>T p.Arg923Cys variant of uncertain significance Not known Unknown 19241098 Russo et al (2009) cp124
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.2908C>T p.Arg970* variant of uncertain significance Rett syndrome - atypical Female 19428276 Psoni et al (2010) cp194
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.1196A>C p.Asn399Thr variant of uncertain significance Rett syndrome - early-onset seizures Female 19253388 Sprovieri et al (2009) cp136
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.211A>G p.Asn71Asp likely pathogenic variant Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp338
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.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.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.838_847del10 p.Asp281Thrfs*4 pathogenic variant Rett syndrome - early seizure Female 15917271 Mari et al (2005) cp21
c.1071delC p.Asp357Glufs*11 pathogenic variant Not known Female 23064044 Raymond et al (2013) cp350
c.1266C>A p.Asp422Glu variant of uncertain significance Rett syndrome - atypical, preserved speech Female Roche Martinez et al (2012) cp376
c.1854delC p.Asp618Glufs*3 pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp339
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.455G>T p.Cys152Phe pathogenic variant Rett syndrome - not certain Female 15499549 Tao et al (2004) cp8
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.352C>T p.Gln118* pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp64
c.656A>C p.Gln219Pro likely pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp405
c.867dupA p.Gln290Thrfs*36 pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp69
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.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.1375C>T p.Gln459* pathogenic variant Rett syndrome - early-onset seizure Female 22982301 Zhang et al (2012) cp347
c.1390C>T p.Gln464* pathogenic variant Not Rett syndrome - infantile spasms Female 23934111 Epi4K Consortium et al (2013) cp444
c.1954C>T p.Gln652* pathogenic variant Not known Female Directly submitted cp467
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.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 et al () cp507
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp508
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - epileptic encephalopathy Male 27187038 et al () cp509
c.2372A>C p.Gln791Pro benign variant Not Rett syndrome - epileptic encephalopathy Male 27187038 et al () cp510
c.2413C>T p.Gln805* pathogenic variant Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp412
c.2494C>T p.Gln832* pathogenic variant Not Rett syndrome - ISSX Female 23647072 Veeramah et al (2013) cp417
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.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.2704C>T p.Gln902* pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp379
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.62A>G p.Glu21Gly pathogenic variant Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp416
c.100-2A>G p.Glu34Lysfs*27 pathogenic variant Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp94
c.1090G>T p.Glu364* pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp336
c.1247_1248del p.Glu416Valfs*2 pathogenic variant Not known Female 23064044 Raymond et al (2013) cp354
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.1708G>T p.Glu570* pathogenic variant Rett syndrome - early-onset seizures Female 21160487 Hadzsiev et al (2011) cp281
c.2045_2046delAGins18 p.Glu682Glyfs*12 pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp72
c.207_213del7 p.Glu70Leufs*4 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22832775 Jahn et al (2013) cp343
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.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.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.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 - 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.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.637G>A p.Gly213Arg likely pathogenic variant Rett syndrome - early-onset seizure Female 27187038 et al () cp502
c.638G>A p.Gly213Glu likely pathogenic variant Not Rett syndrome - infantile spasms Male 23934111 Epi4K Consortium et al (2013) cp443
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.65G>T p.Gly22Val variant of uncertain significance Not Rett syndrome - intractible epilepsy, severe delay Female Directly submitted cp489
c.1892_1893dupTA p.Gly632* pathogenic variant Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp71
c.2047-1G>A p.Gly683Valfs*101 pathogenic variant Rett syndrome - atypical Female 15492925 Weaving et al (2004) cp4
c.248G>T p.Gly83Val variant of uncertain significance Not known Female Directly submitted cp485
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.379C>T p.His127Tyr likely pathogenic variant Not Rett syndrome - Lennox-Gastaut syndrome Unknown 23934111 Epi4K Consortium et al (2013) cp442
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.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.1741C>T p.His581Tyr variant of uncertain significance Not Rett syndrome - uncertain Unknown 23708187 Carvill et al (2013) cp430
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.2531dupA p.His844Glnfs*66 pathogenic variant Not known Female 23064044 Raymond et al (2013) cp355
c.2530delC p.His844Ilefs*19 pathogenic variant Rett syndrome - classical Female Directly submitted cp464
c.1417dupA p.Ile473Asnfs*6 pathogenic variant Rett syndrome - atypical, congenital Female Roche Martinez et al (2012) cp381
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.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.215T>A p.Ile72Asn pathogenic variant Rett syndrome - early seizure Female 16015284 Evans et al (2005) cp31
c.214_216del p.Ile72del likely pathogenic variant Not known Female 23064044 Raymond et al (2013) cp349
c.215T>C p.Ile72Thr likely pathogenic variant Rett syndrome - atypical Female 19396824 Saletti et al (2009) cp138
c.425T>A p.Leu142* pathogenic variant Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp65
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.659T>C p.Leu220Pro pathogenic variant Not Rett syndrome - severe epileptic encephalopathy with infantile spasms Female 17993579 Rosas-Vargas et al (2008) cp59
c.680T>G p.Leu227Arg likely pathogenic variant Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp99
c.812T>C p.Leu271Pro likely pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp496
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.1079delT p.Leu360Profs*8 pathogenic variant Not Rett syndrome - epileptic encephalopathy Male 21770923 Liang et al (2011) cp291
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.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.191T>C p.Leu64Pro likely pathogenic variant Not Rett syndrome - severe encephalopathy and early-onset seizures Male 19564592 Fichou et al (2009) cp106
c.199C>T p.Leu67Phe variant of uncertain significance Not known Female Directly submitted cp468
c.2529delA p.Leu843Phefs*20 pathogenic variant Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp222
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.942delA p.Lys314Asnfs*36 pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp340
c.125A>G p.Lys42Arg pathogenic variant Not known Female Directly submitted cp465
c.2376+1G>C p.Lys760Tyrfs*10 pathogenic variant Not Rett syndrome - West syndrome Female 16015284 Evans et al (2005) cp30
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.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.-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-?_825+?del p.Met1? pathogenic variant Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp204
c.-253-?_977+?del p.Met1? pathogenic variant Not Rett syndrome - severe encephalopathy Male 17256798 Van Esch et al (2007) cp269
c.-253-?_64+?del p.Met1? pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp377
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.-162-2A>G p.Met1? pathogenic variant Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp93
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.39delT p.Phe13Leufs*7 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp287
c.745-?_2276+?del p.Phe249Glufs*4 pathogenic variant Not Rett syndrome - epileptic encephalopathy Male 22264704 Moseley et al (2012) cp495
c.745-?_825+?del p.Phe249_Lys275del pathogenic variant Not Rett syndrome - infantile-onset seizures Female 22867051 Maortua et al (2012) cp301
c.1341delC p.Phe447Leufs*46 pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp375
c.1550delT p.Phe517Serfs*6 pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp382
c.2984T>G p.Phe995Cys likely benign variant Not Rett syndrome - schizophrenia Male 20479760 Piton et al (2011) cp254
c.539C>T p.Pro180Leu pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 16611748 Archer et al (2006) cp49
c.884delC p.Pro295Leufs*55 pathogenic variant Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp220
c.2066delC p.Pro689Hisfs*95 pathogenic variant Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp197
c.2504delC p.Pro835Hisfs*2 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 20397747 White et al (2010) cp146
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.2927C>T p.Pro976Leu likely benign variant Rett syndrome - atypical, late regression Female Roche Martinez et al (2012) cp380
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.1008_1029del22 p.Ser337Argfs*6 pathogenic variant Not Rett syndrome - early-onset seizures Female 23064044 Raymond et al (2013) cp358
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.1757_1758delCT p.Ser586Cysfs*24 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp505
c.2016dupC p.Ser673Leufs*10 pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp294
c.2016delC p.Ser673Leufs*111 pathogenic variant Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp73
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.2497-?_2713+?del p.Ser855Thrfs*22 pathogenic variant Not Rett syndrome - epilepsy, intellectual disability Female Directly submitted cp482
c.506_507delCA p.Thr169Argfs*36 pathogenic variant Not Rett syndrome - early-onset seizures Male 23064044 Raymond et al (2013) cp357
c.660_664dup p.Thr222Ilefs*8 pathogenic variant Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp406
c.863C>T p.Thr288Ile pathogenic variant Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp90
c.964dupA p.Thr322Asnfs*4 pathogenic variant Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp198
c.1612A>G p.Thr538Ala variant of uncertain significance Rett syndrome - male variant Male Directly submitted cp486
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.2200A>G p.Thr734Ala variant of uncertain significance Rett syndrome - atypical Female 23242510 Das et al (2013) cp441
c.528G>T p.Trp176Cys pathogenic variant Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp378
c.526T>G p.Trp176Gly pathogenic variant Not Rett syndrome - early-onset seizures Female 23064044 Raymond et al (2013) cp360
c.513C>A p.Tyr171* pathogenic variant Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp411
c.510_511dup p.Tyr171Cysfs*58 pathogenic variant Rett syndrome - early-onset seizures Female 22867051 Maortua et al (2012) cp300
c.1790dupG p.Tyr598Leufs*13 pathogenic variant Rett syndrome - atypical, early onset seizures Female 24564546 Zhao et al (2014) cp446
c.395T>G p.Val132Gly likely pathogenic variant Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp463
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.2378T>C p.Val793Ala variant of uncertain significance Not Rett syndrome - not certain Female 16611748 Archer et al (2006) cp50
c.2896G>A p.Val966Ile likely benign variant Rett syndrome - atypical Female 23242510 Das et al (2013) cp437
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.[1767C>T(;)2995G>A] p.[=(;)Val999Met] benign variant Rett syndrome - atypical (early seizure variant) Female 23242510 Das et al (2013) cp439
c.[=/518C>A] p.[=/Ala173Asp] likely pathogenic variant Rett syndrome - Rett-like male Male Directly submitted cp491
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.[=/-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.[=/2420_2430del] p.[=/Ser807Cysfs*2] pathogenic variant Not Rett syndrome - developmental delay Male Directly submitted cp493
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.[1675C>T];[=] p.[Arg559*];[=] pathogenic variant Rett syndrome - early-onset seizures Male 19161156 Sartori et al (2009) cp137
c.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] benign variant Rett syndrome - early-onset seizures Female Directly submitted cp494
c.[1238C>G(;)1400A>C] p.[Ser413*(;)His467Pro] pathogenic variant Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp292

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