MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID
c.1235_1260del26 g.153296019_153296044del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 4
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 15
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17
c.1153_1190del38 g.153296089_153296126del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 24
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 31
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 32
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35
c.1012_1202del191 g.153296077_153296267del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37
c.1154_1185del32 g.153296094_153296125del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 45
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 46
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 58
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 59
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 60
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 61
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 62
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 63
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 64
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 65
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 66
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 67
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 68
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 69
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 70
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 72
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 106
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 108
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 109
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121
c.[965C>T(;)999G>T] g.[153296314G>A;153296280C>A] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Rett syndrome-Not certain Female 122
c.258_259delCA g.153297776_153297777delTG p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126
c.1364_1365insC g.153295914_153295915insG p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127
c.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 128
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 129
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 130
c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 131
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 132
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 133
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 134
c.601dupG g.153296678dupC p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 135
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 136
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 137
c.849_1236del388 g.153296043_153296430del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 138
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 139
c.785_818del34 g.153296461_153296494del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 140
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 141
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 142
c.914_1172del259 g.153296107_153296365del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 143
c.905C>A g.153296374G>T p.Pro302His Missense TRD Unknown Rett syndrome-Not certain Unknown 144
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 145
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 146
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Rett syndrome-Not certain Unknown 147
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 148
c.752C>T g.153296527G>A p.Pro251Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 149
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Not Rett synd. Female 150
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 151
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 152
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 153
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154
c.372G>C g.153297663C>G p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 155
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 156
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 157
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 158
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 159
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 160
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 161
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 162
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 163
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 164
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 165
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 166
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 167
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 168
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 169
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 170
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 171
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 172
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 173
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 174
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 175
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 176
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 177
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 178
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 179
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 180
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 181
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 182
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 183
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 184
c.375delC g.153297660delG p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 185
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 186
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 187
c.756_759delCAGG g.153296520_153296523delCCTG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 188
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 190
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 192
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 193
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 195
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 196
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 197
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 198
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 199
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 200
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 201
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 202
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 203
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 204
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 206
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 209
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 210
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 211
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 212
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 217
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 218
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 219
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 220
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 221
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 222
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 223
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 224
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 225
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 226
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 227
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 228
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 229
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 230
c.481G>T g.153296798C>A p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 231
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 232
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 233
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 234
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 235
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Not certain Unknown 236
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 237
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 238
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 239
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 240
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 241
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 242
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 243
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 244
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 245
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 246
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 247
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 248
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 249
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 250
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 251
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 252
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 253
c.439delG g.153296840delC p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 254
c.731_1166del436 g.153296113_153296548del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 255
c.747_751dup5 g.153296528_153296532dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 256
c.1150_1192del43 g.153296087_153296129del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 260
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 261
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 263
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 264
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 265
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 266
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 267
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 268
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 270
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 271
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 272
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 273
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 274
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 275
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 276
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 277
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 278
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 279
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 280
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 281
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 282
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 283
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 284
c.720dupC g.153296559dupG p.Thr241fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 285
c.1156_1200del45 g.153296079_153296123del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286
c.1039_1195del157insGT g.153296084_153296240delinsAC p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 295
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 296
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 297
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 298
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 299
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 302
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 308
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 309
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 330
c.431delA g.153296848delT p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 335
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 354
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 356
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 357
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 359
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 361
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 362
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 363
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Atypical Female 364
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 365
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 368
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 369
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 370
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 373
c.[590C>T(;)674C>T] g.[153296689G>A;153296605G>A] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Atypical Female 374
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 375
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 376
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 379
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 380
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 381
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 383
c.[1157_1197del41; 1232_1240del9] g.[153296082_153296122del41;153296039_153296047del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 384
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 386
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 387
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 388
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 389
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 390
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 391
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 392
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 394
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Female 395
c.[880C>T(;)1430G>C] g.[153296399G>A;153295849C>G] p.[Arg294*(;)Ser477Thr] Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 396
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Classical Female 398
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 399
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 402
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 404
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 405
c.1450_*12del24 g.153295806_153295829del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 406
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 407
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 408
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 412
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 413
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Not Rett synd. Female 414
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Rett syndrome-Atypical Female 415
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 416
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 419
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 422
c.[1104C>T; 1107_1327del221] g.[153296175G>A;153295952_153296172del221] p.[His368His;His370fs] Silent, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 423
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 426
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 429
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 430
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Atypical Female 431
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 432
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 434
c.[897C>T(;)1155_1200del46] g.[153296382G>A;153296079_153296124del46] p.[Thr299Thr(;)Leu386fs] Silent, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Atypical Female 435
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 436
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 437
c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 438
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 439
c.[397C>T(;)438C>T] g.[153296882G>A;153296841G>A] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Rett syndrome-Classical Female 440
c.[819G>T(;)1161C>T] g.[153296460C>A;153296118G>A] p.[Gly273Gly(;)Pro387Pro] Silent TRD, C-term Silent polymorphism Rett syndrome-Atypical Female 441
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Rett synd. Female 442
c.480_481delTG g.153296798_153296799delCA p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 443
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 445
c.[806delG(;) *8C>T] g.[153296473delC;153295810G>A] p.Gly269fs frameshift insertion or deletion, 3'UTR variation TRD-NLS, 3'UTR Mutation associated with disease Rett syndrome-Classical Female 446
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 447
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 449
c.812_818del7 g.153296461_153296467del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 450
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 453
c.[808C>T(;) 1233C>T] g.[153296471G>A;153296046G>A] p.[Arg270*(;) Ser411Ser] nonsense, silent TRD-NLS, C-term Mutation associated with disease Rett syndrome-Classical Female 454
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 457
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 458
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 461
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 463
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 465
c.1403_1408del6 g.153295871_153295876del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 467
c.100_103delGATA g.153297932_153297935delTATC p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 468
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Atypical Female 470
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 472
c.[916C>T(;)984C>T] g.[153296363G>A;153296295G>A] p.[Arg306Cys(;)Leu328Leu] Missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 473
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Not Rett synd. Female 474
c.[608C>T(;)763C>T] g.[153296671G>A;153296516G>A] p.[Thr203Met(;)Arg255*] Missense, nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 475
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Not Known Female 476
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478
c.27-8C>G g.153298016G>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 479
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 480
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 481
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 833
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 834
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 835
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 836
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 837
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 838
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 839
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 840
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 841
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 842
c.620dupT g.153296659dupA p.Gln208fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Unknown 843
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 844
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 847
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 848
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 849
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Classical Unknown 850
c.1159_1201del43 g.153296078_153296120del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851
c.[1103_1172del; 1185_1191del] g.[153296107_153296176del;153296088_153296094del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 852
c.1101_1201del101 g.153296078_153296178del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853
c.1123_1191del69 g.153296088_153296156del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 854
c.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 855
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 856
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 857
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 858
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 859
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 860
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 861
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 862
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 863
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 864
c.291C>A g.153297744G>T p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 865
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866
c.463T>A g.153296816A>T p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 867
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 868
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 869
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 870
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 871
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 872
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 873
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 874
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 875
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 876
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 877
c.76delC g.153297959delG p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Unknown 878
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 880
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Unknown 881
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 882
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 883
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 884
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 885
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 886
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 887
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 888
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 889
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 890
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 891
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 892
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 893
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 896
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 897
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 898
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome- Unknown 899
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 901
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 902
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 905
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 906
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 907
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 908
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Unknown 909
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 910
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 911
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 912
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 913
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918
c.1163_1216del54 g.153296063_153296116del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 919
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 920
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 922
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 923
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 924
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 925
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 928
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 929
c.592A>T g.153296687T>A p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 933
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 934
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 938
c.1038C>G g.153296241G>C p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 939
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 940
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 941
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 943
c.677_678insA g.153296601_153296602insT p.Phe226fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 944
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 945
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 947
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 948
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 951
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Classical Female 952
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 953
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Unknown 1002
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1003
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1004
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1005
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1006
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Not certain Unknown 1008
c.686C>T g.153296593G>A p.Ser229Leu Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 1011
c.410A>G g.153296869T>C p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd. Male 1012
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 1013
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1014
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1015
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1016
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 1017
c.850A>G g.153296429T>C p.Lys284Glu Missense TRD Unknown Not Rett synd. Male 1018
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1019
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1020
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 1021
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1022
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1023
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 1024
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1033
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1034
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1035
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1036
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1037
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1038
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1039
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1040
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1041
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1042
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1043
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1044
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1045
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1046
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1047
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1048
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1049
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1050
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1051
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1052
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1053
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1063
c.430A>T g.153296849T>A p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1079
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108
c.554delG g.153296725delC p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1110
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1111
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1112
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1113
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1114
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115
c.[965_970del6; 1029dupG; 1138_1208del71] g.[153296309_153296314del6;153296250dupC;153296071_153296141del71] p.[Pro322_Leu323del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1116
c.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1117
c.[1161_1166del6; 1180_1205del26] g.[153296113_153296118del6;153296074_153296099del26] p.[Pro390_Pro391del;Glu394Profs*2] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1118
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119
c.[1163_1173del11; 1176_1193del18] g.[153296106_153296116del11;153296086_153296103del18] p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1120
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1123
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1124
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1125
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1126
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1130
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1131
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1132
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1133
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1134
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1135
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137
c.257C>G g.153297778G>C p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1138
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140
c.871T>G g.153296408A>C p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1141
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd. Female 1149
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1150
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1151
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Not Rett synd. Female 1152
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1153
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Not Rett synd. Female 1154
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Male 1155
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1156
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1157
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1158
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1159
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1160
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1161
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1162
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1163
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1164
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1165
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1166
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1167
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1168
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1169
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1171
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1177
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178
c.1158_1186del29 g.153296093_153296121del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1193
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Unknown 1194
c.1061_1156del96 g.153296123_153296218del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1197
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1198
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Rett synd. Male 1199
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1200
c.345delC g.153297690delG p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1201
c.898_1099del202 g.153296180_153296381del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1202
c.989_994delinsGCATCTTCTCCTCTTT g.153296285_153296290delinsAAAGAGGAGAAGATGC p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Unknown 1204
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1207
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Rett syndrome-Classical Female 1210
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1212
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1214
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Classical Female 1215
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1217
c.1176G>A g.153296103C>T p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1218
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Classical Female 1221
c.686C>T g.153296593G>A p.Ser229Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1222
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1225
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1226
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1227
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1228
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1229
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1230
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1231
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1232
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1233
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd. Female 1234
c.[763C>T(;)1449G>C] g.[153296516G>A;153295830C>G] p.[Arg255*(;)Glu483Asp] Nonsense TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1235
c.[802C>T(;) 808C>T] g.[153296477G>A;153296471G>A] p.[Arg268Trp(;) Arg270*] Missense, nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1236
c.[750C>T(;)1459T>C] g.[153296529G>A;153295820A>G] p.[Arg250Arg(;)*487Argext27] Silent, nonstop TRD, C-term Unknown Rett syndrome-Classical Female 1237
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Not Rett synd. Female 1238
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Rett synd. Male 1239
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1240
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1241
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1243
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1244
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1245
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1246
c.531delA g.153296748delT p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247
c.635_655del21 g.153296624_153296644del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Rett syndrome-Not certain Female 1248
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1249
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1250
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1251
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1252
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254
c.1099_1118del20 g.153296161_153296180del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255
c.1121_1191del71 g.153296088_153296158del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258
c.1167_1200del34 g.153296079_153296112del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263
c.55C>T g.153297980G>A p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 1264
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1265
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1266
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1267
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1268
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1269
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1270
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1271
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1272
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1273
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1274
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1275
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1276
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1277
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1278
c.331A>G g.153297704T>C p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1279
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1280
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1281
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1282
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1283
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1284
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1285
c.403A>G g.153296876T>C p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1286
c.403A>G g.153296876T>C p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1287
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1288
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1289
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1290
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1291
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1292
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1293
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1294
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1295
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1296
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1297
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1298
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1299
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1300
c.629A>T g.153296650T>A p.Lys210Ile Missense TRD Unknown Rett syndrome-Not certain Unknown 1301
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1302
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1303
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1304
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1305
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1306
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1307
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1308
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1309
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1310
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1311
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1312
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1313
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1314
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1315
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1316
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1317
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1318
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1319
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1320
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1321
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1322
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1323
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1324
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1325
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1326
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1327
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1328
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1329
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1330
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1331
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1332
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1333
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1334
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1335
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1336
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1337
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1338
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1339
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1340
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1341
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1342
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1343
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1344
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1345
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1346
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1347
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1348
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1349
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1350
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1351
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1352
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1353
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1354
c.27-6C>G g.153298014G>C p.Arg9fs Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 1355
c.377+2T>G g.153297656A>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Not certain Unknown 1356
c.201delG g.153297834delC p.Ser68fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Unknown 1357
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1358
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1359
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1360
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1361
c.1163_*39del338 g.153295779_153296116del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1362
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1363
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1364
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1365
c.1030_1195del166insGT g.153296084_153296249delinsAC p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1366
c.1097_*13del378 g.153295805_153296182del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1367
c.1096_1201del106 g.153296078_153296183del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1368
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369
c.517C>G g.153296762G>C p.Pro173Ala Missense Inter-domain region Unknown Rett syndrome-Not certain Unknown 1370
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 1371
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Unknown 1372
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Unknown 1373
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1374
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1375
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379
c.750_750delCinsTCAGGAAGCTT g.153296529delinsAAGCTTCCTGA p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1380
c.1043_1173del131insTG g.153296106_153296236delinsCA p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381
c.377+6_377+9del g.153297649_153297652del intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1382
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1383
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1384
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1386
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1387
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 1388
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1389
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1390
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1391
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1392
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Male 1393
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1394
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1397
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1398
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1399
c.898G>A g.153296381C>T p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 1400
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1404
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1421
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1422
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1423
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1424
c.736_737insAT g.153296542_153296543insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1425
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431
c.903C>T g.153296376G>A p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1432
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1434
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Classical Female 1436
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1438
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1439
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1440
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1441
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1442
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1443
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1444
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1445
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1446
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1447
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1448
c.622C>T g.153296657G>A p.Gln208* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1449
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1450
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1451
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1452
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457
c.35_42dup g.153297993_153298000dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1458
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1459
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1460
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 1461
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1462
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-Preserved speech Female 1463
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1464
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1465
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1466
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467
c.566delG g.153296713delC p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1468
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1469
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1470
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1471
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1472
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1473
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1474
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1475
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1476
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1479
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 1480
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1481
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483
c.411delG g.153296868delC p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1484
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1485
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1486
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1487
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1488
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1489
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1490
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 1493
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1494
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1495
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1496
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Female 1497
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1498
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1499
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1500
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1501
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Unknown 1502
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1503
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1504
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1505
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1506
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1507
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1508
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1509
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Unknown 1510
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1511
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1512
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1513
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1514
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1515
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1516
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1517
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1518
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-classical Unknown 1521
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-classical Unknown 1522
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1523
c.1190dupA g.153296089dupT p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524
c.100_103delGATA g.153297932_153297935delTATC p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Unknown 1525
c.451delG g.153296828delC p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1526
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527
c.[881_1169del289; 1189_1196del8] g.[153296110_153296398del289;153296083_153296090del8] p.Arg294_Asp398delinsHisLeuSerProArgAla In-frame insertion or deletion, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Unknown 1528
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1529
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1530
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1531
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Not Rett synd. Female 1533
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1534
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1535
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1537
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1539
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1540
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1542
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 1543
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1544
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1546
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1547
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1550
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1551
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1552
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Rett synd. Female 1555
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1556
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 1557
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Female 1559
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1560
c.422dupA g.153296857dupT p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1561
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1562
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1563
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Male 1564
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Female 1565
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1566
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1567
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1568
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 1569
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1570
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1571
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1572
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1573
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1575
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 1576
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Not Rett synd. Male 1577
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1578
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1579
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1580
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1581
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1582
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1583
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1584
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1585
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1586
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1588
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1589
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1590
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1593
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1594
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1596
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Unknown 1597
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1598
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1599
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1600
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] g.[153296142_153296154del13;153296016_153296141inv;153296078_153296121del;153296015_153296016insTCC] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1603
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1605
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1607
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1608
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1611
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Male 1613
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1614
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1617
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1618
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619
c.898_904del7 g.153296375_153296381del7 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1620
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1621
c.469T>A g.153296810A>T p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 1622
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1627
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628
c.26+2T>A g.153357640A>T intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1629
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1630
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1631
c.683C>G g.153296596G>C p.Thr228Ser Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1632
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1633
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1634
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1635
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Not certain Female 1636
c.1441G>A g.153295838C>T p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 1637
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1638
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1639
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Male 1640
c.428_429insT g.153296850_153296851insA p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1641
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1645
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1646
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1647
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1648
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1649
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1651
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1652
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Male 1653
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd. Female 1654
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1656
c.674C>T g.153296605G>A p.Pro225Leu Missense TRD Unknown Rett syndrome-Male variant Male 1659
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1661
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1663
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1665
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1666
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1668
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 1669
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1672
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 1673
c.529A>T g.153296750T>A p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1678
c.523A>T g.153296756T>A p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1685
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Not Known Female 1686
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Not Known Female 1687
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712
c.229_238del10 g.153297797_153297806del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1715
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721
c.807_*125del780 g.153295693_153296472del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1723
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1726
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1729
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731
c.194C>G g.153297841G>C p.Ser65* Nonsense N-term Mutation associated with disease Not Known Female 1732
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1734
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Known Female 1735
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1737
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739
c.401C>T g.153296878G>A p.Ser134Phe Missense MBD Unknown Not Known Female 1740
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744
c.1041_*29del450 g.153295789_153296238del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1746
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1749
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Not Known Female 1755
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757
c.854dupA g.153296425dupT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1762
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1763
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1771
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773
c.651_652delTG g.153296627_153296628delCA p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1774
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1779
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786
c.715delG g.153296564delC p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Not Known Female 1788
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789
c.760A>T g.153296519T>A p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1790
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 1794
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1795
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 1798
c.864dupG g.153296415dupC p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1802
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Known Female 1805
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1809
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1810
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 1811
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1815
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1817
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1818
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 1819
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1820
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1823
c.1265_1289del25insAGCGGCCG g.153295990_153296014delinsCGGCCGCT p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1826
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829
c.[763C>T(;)1071C>T] g.[153296516G>A;153296208G>A] p.[Arg255*(;)Ser357Ser] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Not certain Female 1830
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1836
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1838
c.470dupT g.153296809dupA p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1839
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1844
c.[777C>T(;)1157_1197del41] g.[153296502G>A;153296082_153296122del41] p.[Ala259Ala(;)Leu386fs] Silent, frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-Not certain Female 1845
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd. Female 1846
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1847
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1850
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1851
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1852
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Not Rett synd. Male 1853
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1855
c.1161_1205del45insA g.153296074_153296118delinsT p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1856
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1857
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862
c.1123_1202del80 g.153296077_153296156del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1865
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1867
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1871
c.748_753del6insGGCCG g.153296526_153296531delinsCGGCC p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872
c.611_612delinsAG g.153296667_153296668delinsCT p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1873
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1874
c.[609G>A(;)905C>T] g.[153296670C>T;153296374G>A] p.[Thr203Thr(;)Pro302Leu] Silent, missense Inter-domain region, TRD Unknown Rett syndrome-Not certain Female 1875
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1876
c.297C>G g.153297738G>C p.Thr99Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1877
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883
c.341G>C g.153297694C>G p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Male 1885
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1886
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1887
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 1891
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894
c.792_793delTC g.153296486_153296487delGA p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1896
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1897
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1899
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd. Male 1904
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906
c.1012_1193del182 g.153296086_153296267del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1908
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1912
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1918
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1919
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1922
c.315dupA g.153297720dupT p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 1926
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1927
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1928
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-classical Female 1929
c.739delG g.153296540delC p.Val247fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1930
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1931
c.299T>G g.153297736A>C p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1932
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1933
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1934
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1935
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-classical Female 1939
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1941
c.482G>T g.153296797C>A p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 1942
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1943
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-atypical Female 1946
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1947
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1948
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1950
c.755delG g.153296524delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1951
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1952
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1954
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1955
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1962
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1963
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1965
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1966
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1967
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1971
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1972
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1973
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1974
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1975
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1976
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1977
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1978
c.[378-61C>G; *93G>A] g.[153296962G>C;153295725C>T] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Not Rett synd. Male 1979
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1981
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1982
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1983
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1984
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1985
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1986
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1987
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1988
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1989
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1990
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1991
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1992
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1993
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1994
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1995
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1996
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1998
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999
c.1135_1142delCCCGTGCC g.153296137_153296144delGGCACGGG p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2000
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2001
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] g.[153296285_153296287delTCT;153296250delC;153296218C>A;153296079_153296112del34] p.[Lys331del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2002
c.1061G>T g.153296218C>A p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 2003
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2005
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 2006
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2007
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014
c.910A>G g.153296369T>C p.Lys304Glu Missense TRD Unknown Not Known Female 2015
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 2016
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2019
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024
c.[397C>T(;)1061G>T] g.[153296882G>A;153296218C>A] p.[Arg133Cys(;)Arg354Leu] Missense MBD, C-term Mutation associated with disease Not Known Female 2025
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028
c.[377+22C>G; 378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2029
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Known Male 2030
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2037
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040
c.[880C>T(;)*9G>A] g.[153296399G>A;153295809C>T] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Not Known Female 2041
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2044
c.[377+22C>G(;)378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2045
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2046
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Male 2047
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052
c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] Intronic variation, missense Intronic, inter-domain region Polymorphism not causing disease Not Rett synd. Female 2053
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054
c.[1189G>A(;)*55C>G] g.[153296090C>T;153295763G>C] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Not Known Female 2055
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057
c.479C>G g.153296800G>C p.Thr160Ser Missense MBD Unknown Not Known Female 2058
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2059
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd. Male 2062
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064
c.362A>G g.153297673T>C p.Asp121Gly Missense MBD Unknown Not Known Female 2065
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2066
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 2068
c.464T>G g.153296815A>C p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2071
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2072
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2073
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2075
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2076
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2077
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2078
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2079
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2080
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2081
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2082
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2083
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2084
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2085
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2086
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Not certain Female 2087
[c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2088
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2089
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090
c.617delG g.153296662delC p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2092
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2093
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2094
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2095
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2096
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2097
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099
c.126dupG g.153297909dupC p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 2100
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102
c.654_657delGAAG g.153296622_153296625delCTTC p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2103
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104
c.865A>T g.153296414T>A p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Atypical Female 2122
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2123
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2124
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Known Female 2128
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Rett synd. Male 2129
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 2131
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Known Female 2132
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Male 2133
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2134
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Not Rett synd. Male 2135
c.585C>T g.153296694G>A p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 2136
c.386G>T g.153296893C>A p.Gly129Val Missense MBD Unknown Not Known Female 2137
c.277C>T g.153297758G>A p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 2138
c.215C>T g.153297820G>A p.Pro72Leu Missense N-term Unknown Not Known Male 2139
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 2140
c.155A>G g.153297880T>C p.His52Arg Missense N-term Unknown Not Rett synd. Female 2141
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd. Male 2144
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd. Female 2148
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2149
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2150
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Male 2151
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 2153
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 2154
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2155
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Male 2156
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2157
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2159
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Known Female 2160
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Rett synd. Male 2161
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup In-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-Atypical Female 2162
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166
c.302C>A g.153297733G>T p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2167
c.302C>T g.153297733G>A p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2168
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2170
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2171
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2172
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2173
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2175
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2176
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2183
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 2191
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2192
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2193
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Not Rett synd. Female 2195
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205
c.[316C>T(;)917G>T(;)1061G>A] g.[153297719G>A;153296362C>A;153296218C>T] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Missense MBD, TRD, C-term Mutation associated with disease Rett syndrome-Not certain Female 2206
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 2207
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2214
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224
c.[397C>T; 1164_1207del44] g.[153296882G>A;153296072_153296115del44] p.[Arg133Cys; Pro389*] Missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 2225
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245
c.[502C>T(;)897C>T] g.[153296777G>A;153296382G>A] p.[Arg168*(;)Thr299Thr] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2246
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2331
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2332
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2333
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2334
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 2337
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 2338
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2339
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2340
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2341
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2342
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2343
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2344
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2345
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2346
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2347
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2348
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2349
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2350
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2351
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2352
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2353
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2354
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2355
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2356
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2357
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2358
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2359
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2360
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2361
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2362
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2363
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2364
c.91delG g.153297944delC p.Val31* Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2365
c.311_323del13 g.153297712_153297724del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 2366
c.311G>A g.153297724C>T p.Trp104* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2367
c.587C>G g.153296692G>C p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 2368
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 2369
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374
c.591G>A g.153296688C>T p.Thr197Thr Silent Inter-domain region Silent polymorphism Not Rett synd. Male 2375
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2376
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Female 2377
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2378
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 2379
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2380
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2381
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2382
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2383
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2384
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2385
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2386
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2387
c.1357C>T g.153295922G>A p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2388
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd. Female 2390
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Male 2391
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2392
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2393
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2394
c.720C>G g.153296559G>C p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Female 2395
c.720C>G g.153296559G>C p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Female 2396
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2397
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2398
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Congenital onset Female 2401
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2402
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2403
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2404
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2405
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2406
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2407
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Classical Female 2408
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2410
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2412
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2414
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2415
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2416
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Classical Female 2417
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2418
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2420
c.666C>G g.153296613G>C p.Val222Val Silent TRD Silent polymorphism Rett syndrome-Preserved speech Female 2421
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2422
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2423
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2425
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2426
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2427
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2428
c.674C>T g.153296605G>A p.Pro225Leu Missense TRD Unknown Rett syndrome-Classical Female 2429
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2431
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2433
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2434
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2435
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2439
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2440
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2441
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2442
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Congenital onset Female 2443
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2444
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2445
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2446
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2448
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2449
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2450
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452
c.[763C>T(;)1233C>T] g.[153296516G>A;153296046G>A] p.[Arg255*(;)Ser411Ser] Nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 2453
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2454
c.[502C>T(;)750C>A] g.[153296777G>A;153296529G>T] p.[Arg168*(;)Arg250Arg] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2455
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2456
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Classical Female 2457
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2458
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2459
c.[710G>T(;)763C>T] g.[153296569C>A;153296516G>A] p.[Gly237Val(;)Arg255*] missense, nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2460
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2461
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2462
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2463
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2464
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2465
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2466
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2468
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2469
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2471
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2472
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2473
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2474
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475
c.1163C>T g.153296116G>A p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 2476
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Female 2477
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2478
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2479
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2480
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2481
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2483
c.317G>T g.153297718C>A p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2485
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2486
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2487
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Not Known Female 2489
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 2490
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2491
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2492
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2493
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2495
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd. Male 2496
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2498
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2499
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2501
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2505
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2506
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2517
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2518
c.422A>G g.153296857T>C p.Tyr141Cys Missense MBD Unknown Rett syndrome-Atypical Female 2519
c.666C>G g.153296613G>C p.Val222Val Silent TRD Silent polymorphism Not Rett synd. Male 2520
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2521
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2522
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2523
c.1206C>T g.153296073G>A p.Pro402Pro Silent C-term Silent polymorphism Not Rett synd. Female 2524
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2525
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2526
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2527
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2528
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2529
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Female 2530
c.27-12521_*5072del19784 g.153290746_153310529del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs Frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2532
c.1023_*14472del14911 g.153281346_153296256del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2534
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2535
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2536
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2537
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 2540
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 2541
c.651_652delTG g.153296627_153296628delCA p.Gly218fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2542
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2543
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2544
c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] inframe insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2545
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2548
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2549
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-male variant Male 2550
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2554
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2555
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2556
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2557
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2558
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2559
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2560
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2561
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2562
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 2563
c.189_190delGA g.153297845_153297846delTC p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2564
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2565
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2566
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2567
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2568
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2569
c.323T>A g.153297712A>T p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 2570
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2571
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2572
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2573
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2574
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2575
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2576
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2577
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-Classical Female 2578
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2579
c.430A>T g.153296849T>A p.Lys144* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2580
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 2581
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2582
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2583
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2584
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2585
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2586
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2587
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2588
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2589
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2590
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2591
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2592
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2593
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2594
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2595
c.611C>G g.153296668G>C p.Ser204* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2596
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-Classical Female 2597
c.753dupC g.153296526dupG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2598
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2599
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2600
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2601
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2602
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2603
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2604
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2605
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2606
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2607
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2608
c.816_832del17 g.153296447_153296463del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2609
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2610
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2611
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2612
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2613
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2614
c.904C>T g.153296375G>A p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 2615
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2616
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2617
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2618
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2619
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2620
c.[1063_1188del126; 1189_1231inv; 1232_1236del5] g.[153296091_153296216del126;153296048_153296090inv;153296043_153296047del5] p.Ser355fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2621
c.1069_1071delAGC g.153296208_153296210delGCT p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2622
c.1116_1201del86 g.153296078_153296163del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2624
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2625
c.1162C>T g.153296117G>A p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 2626
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2627
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2628
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2629
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2630
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2631
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 2632
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2633
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2634
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Rett syndrome-Classical Female 2635
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2636
c.1335G>A g.153295944C>T p.Thr445Thr silent c-term Silent polymorphism Rett syndrome-Classical Female 2637
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2642
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643
c.27-?_*8554+?del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2644
c.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2645
c.289G>T g.153297746C>A p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2649
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2650
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2651
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 2652
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 2653
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 2654
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 2655
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2656
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2657
c.1430G>C g.153295849C>G p.Ser477Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2658
c.1162_1163delinsTA g.153296116_153296117delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 2659
c.679C>G g.153296600G>C p.Gln227Glu missense TRD Unknown Not Rett synd. Female 2660
c.27-55G>A g.153298063C>T intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2661
c.377+18C>G g.153297640G>C intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2662
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2663
c.393C>G g.153296886G>C p.Ala131Ala silent MBD Silent polymorphism Not Rett synd. Unknown 2664
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2665
c.617G>C g.153296662C>G p.Gly206Ala missense inter-domain region Unknown Not Rett synd. Male 2666
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 2667
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2668
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2669
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 2670
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 2672
c.245A>G g.153297790T>C p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd. Male 2673
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2674
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2675
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2678
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2680
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2682
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2683
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2684
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2685
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2686
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2687
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2688
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2689
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2690
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2691
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2692
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2693
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2694
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2695
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2696
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2698
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2699
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2700
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2701
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2702
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2703
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2704
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2705
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2707
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2710
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2711
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2712
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2713
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2714
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2715
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2716
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2717
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2718
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2719
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2720
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2721
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2722
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2723
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2724
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2725
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2726
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2727
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2728
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2729
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2730
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2731
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2732
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2733
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2734
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2735
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2736
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2737
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2738
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2739
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2740
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2741
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2742
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2743
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2744
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 2745
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Male 2746
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2747
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2748
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2749
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2750
c.609G>A g.153296670C>T p.Thr203Thr silent inter-domain region Silent polymorphism Not Rett synd. Male 2751
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 2752
c.906C>G g.153296373G>C p.Pro302Pro silent TRD Silent polymorphism Not Rett synd. Male 2753
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755
MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-atypical Female 2758
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759
c.-168-?_26+?del g.153357642_153363130del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2760
c.-168-?_26+?del g.153357642_153363130del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2761
c.-168-?_*?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2762
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 2763
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2764
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2765
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2766
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2767
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 2768
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 2769
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 2771
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Female 2772
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Female 2773
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 2774
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Female 2775
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Female 2776
c.1315G>A g.153295964C>T p.Ala439Thr missense C-term Unknown Not Rett synd. Female 2777
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 2778
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Female 2779
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 2780
MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2781
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2782
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2783
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2784
c.27-?_1185+?del g.153296094_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2785
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2787
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2789
c.1336-?_*?del p.? frameshift insertion or deletion N-term/MBD/interdomain/TRD/NLS/C-term Mutation associated with disease Rett syndrome-classical Female 2790
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2791
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2793
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2794
c.469T>A g.153296810A>T p.Phe157Ile missense MBD Unknown Not Rett synd. Male 2795
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 2796
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2801
MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2802
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2803
c.298C>G g.153297737G>C p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2807
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2808
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2809
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2810
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811
c.482G>A g.153296797C>T p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813
c.[426C>T(;)916C>T] g.[153296853G>A;153296363G>A] p.[Phe142Phe(;)Arg306Cys] silent, missense MBD, TRD Mutation associated with disease Rett syndrome-classical Female 2814
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819
c.[502C>T(;)1326C>T] g.[153296777G>A;153295953G>A] p.[Arg168*(;)Thr442Thr] nonsense, silent inter-domain region, C-term Mutation associated with disease Rett syndrome-classical Female 2820
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824
c.[808C>T(;) 1326C>T] g.[153296471G>A;153295953G>A] p.[Arg270*(;) Thr442Thr] nonsense, silent TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 2825
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-classical Female 2830
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2831
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2852
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2853
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2854
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2855
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856
c.1162C>T g.153296117G>A p.Pro388Ser missense C-term Unknown Rett syndrome-congenital onset Female 2857
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2859
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2860
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2862
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2863
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2864
c.36G>C g.153297999C>G p.Lys12Asn missense N-term Polymorphism not causing disease Rett syndrome-not certain Female 2865
c.28G>C g.153298007C>G p.Glu10Gln missense N-term Unknown Rett syndrome-forme fruste Female 2866
c.383A>C g.153296896T>G p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 2867
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2868
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2869
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2870
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2871
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2872
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2873
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2874
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 2875
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2876
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2877
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2878
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2879
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2880
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2881
c.830delC g.153296449delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Rett syndrome-congenital onset Female 2883
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2884
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 2885
c.1151_1191del41 g.153296088_153296128del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886
c.734_759del26 g.153296520_153296545del26 p.Val245fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2887
c.756_763dup g.153296516_153296523dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2888
c.799A>T g.153296480T>A p.Lys267* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2889
c.898_901del g.153296378_153296381del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2890
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-atypical Female 2891
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2893
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2894
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2895
c.710dupG g.153296569dupC p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2896
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2897
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2898
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2899
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2900
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2901
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2902
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2903
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2904
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2905
c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] frameshift combined insertion and deletion, missense N-term, MBD Mutation associated with disease Rett syndrome-classical Female 2906
c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? frameshift insertion of deletion N-term Mutation associated with disease Rett syndrome-classical Female 2907
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2908
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2909
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2910
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 2911
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 2912
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2916
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2928
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2929
c.215dupC g.153297820dupG p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2930
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2931
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2932
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2933
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 2934
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2935
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2936
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2937
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2938
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2939
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2940
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2941
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2942
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2943
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2944
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2945
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2946
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2947
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2951
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952
c.1194_1195insT g.153296084_153296085insA p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2953
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2954
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2955
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-atypical Female 2956
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 2957
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2958
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2959
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2960
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2961
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2962
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2963
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-atypical Female 2964
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2965
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2966
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2967
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2969
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2970
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2971
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2972
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2973
c.27-2A>G g.153298010T>C intronic variation intronic variation N-term Mutation associated with disease Rett syndrome-atypical Female 2974
c.-98-?_377+?del (deletion of exons 2 and 3) p.Met1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2975
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 2976
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 2977
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2978
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2979
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2980
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2981
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2982
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2983
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2984
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2985
c.401C>T g.153296878G>A p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 2986
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2987
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2988
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2989
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2990
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2991
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2992
c.[834C>T(;) 965C>T] g.[153296445G>A;153296314G>A] p.[Ala278Ala(;) Pro322Leu] silent, missense TRD, C-term Unknown Rett syndrome-classical Female 2993
c.753C>T g.153296526G>A p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-classical Female 2994
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2996
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2997
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2998
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2999
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3000
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3001
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3002
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3003
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3004
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3005
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3006
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3007
c.874_875insA g.153296404_153296405insT p.Ser292fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3008
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009
c.[1158_1167del10; 1173_1188del16] g.[153296112_153296121del10;153296091_153296106del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3010
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3011
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018
c.1415_1416delAG g.153295863_153295864delCT p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd. Male 3019
c.225G>A g.153297810C>T p.Pro75Pro silent N-term Silent polymorphism Not Rett synd. Male 3020
c.[528C>G; 897C>T] g.[153296751G>C;153296382G>A] p.[Pro176Pro; Thr299Thr] silent inter-domain region Silent polymorphism Not Rett synd. Male 3021
c.573C>T g.153296706G>A p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd. Male 3022
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3023
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3024
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 3025
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Male 3026
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 3027
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3028
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3029
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3030
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3031
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 3032
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3033
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3034
c.140dupA g.153297895dupT p.Pro48fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3035
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3036
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3037
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3038
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3039
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3040
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3041
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3042
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3043
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3044
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3045
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3046
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3047
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3048
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3050
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3068
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3069
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3070
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3071
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3072
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3073
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3074
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3075
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3076
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3079
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 3082
c.291C>A g.153297744G>T p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3113
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3114
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3115
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3118
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3119
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3120
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3121
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3122
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3123
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3124
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3125
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3126
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3127
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3128
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3129
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3130
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3131
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3132
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3133
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3134
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3135
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3136
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3137
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3138
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3139
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140
c.908T>G g.153296371A>C p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141
c.910A>G g.153296369T>C p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3159
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3160
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3161
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3162
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167
c.28G>T g.153298007C>A p.Glu10* nonsense N-term Mutation associated with disease Rett syndrome-not certain Female 3168
c.382C>T g.153296897G>A p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3169
c.413T>A g.153296866A>T p.Leu138* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3170
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3181
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3182
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3183
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3184
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3185
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3186
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3187
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3188
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3189
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3190
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3191
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3192
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3193
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3194
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3195
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3196
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3197
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3198
c.538A>T g.153296741T>A p.Lys180* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3199
c.592A>T g.153296687T>A p.Arg198* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3200
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3201
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3202
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3203
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3204
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3205
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3206
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3207
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3208
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3209
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3210
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3211
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3212
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3213
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3214
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3215
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3216
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3217
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3218
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3219
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3220
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3221
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3222
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3223
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3224
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3225
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3226
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3227
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3228
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3229
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3230
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3231
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3232
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3233
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3234
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3235
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3236
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3237
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3238
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3239
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3240
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3241
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3242
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3243
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3244
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3245
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3246
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3247
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3248
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3249
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3250
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3251
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3252
c.1-?dup g.153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3253
c.1-?_26+?dup g.153357642_153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3254
c.107_113del7 g.153297922_153297928del7 p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3255
c.117dupA g.153297918dupT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3256
c.215_216insT g.153297819_153297820insA p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3257
c.382_1189del808 g.153296090_153296897del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3258
c.475delG g.153296804delC p.Val159* frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3259
c.480delT g.153296799delA p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3260
c.488_1189del702 g.153296090_153296791del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3261
c.608_609insA g.153296670_153296671insT p.Ser204fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3262
c.676_677insA g.153296602_153296603insT p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3263
c.676_677insA g.153296602_153296603insT p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3264
c.696delC g.153296583delG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3265
c.711_1269del559 g.153296010_153296568del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3266
c.748_749insT g.153296530_153296531insA p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3267
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3268
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3269
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3270
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3271
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3272
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3273
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3274
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275
c.822_1184del363 g.153296095_153296457del363 p.Val275_Ser396del in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3276
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277
c.851_1188del338 g.153296091_153296428del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3278
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3279
c.865_866delAA g.153296413_153296414delTT p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3280
c.883delT g.153296396delA p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3281
c.898delG g.153296381delC p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3282
c.906delC g.153296373delG p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3283
c.1009_1027del19 g.153296252_153296270del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284
c.1046_1206del161 g.153296073_153296233del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3285
c.1078_*2524del2908 g.153293294_153296201del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3286
c.1105_1225del121 g.153296054_153296174del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287
c.[1105_1116del12; 1152_1195del44] g.[153296163_153296174del12;153296084_153296127del44] p.[His369_His372del; Pro385fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3288
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3289
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3290
c.1129_*568delinsCCGTGG g.153295250_153296150delinsCCACGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3291
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3292
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3293
c.1155_1183del29 g.153296096_153296124del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3294
c.[1159_1174del16; 1205_1432del228] g.[153296105_153296120del16;153295847_153296074del228] p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3295
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3297
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3298
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3299
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3300
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3301
c.1156_1157dupCT g.153296122_153296123dupAG p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3302
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3303
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3304
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3305
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3306
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3307
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3308
c.1157_*944del1249 g.153294874_153296122del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3309
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311
c.1159_1458del300 g.153295821_153296120del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3312
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3314
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3315
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3316
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3317
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3318
c.1164delA g.153296115delT p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3319
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3320
c.[1197_1237inv; 1238_1266del] g.[153296042_153296082inv;153296013_153296041del] p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3321
c.1202dupG g.153296077dupC p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3322
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3324
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3325
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3326
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3327
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3328
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3329
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3330
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3331
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3332
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3333
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3334
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3335
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3336
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3337
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3338
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3339
c.27-96_1205del (deletion of exon 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3340
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] g.[153296242_153296275del;153296225_153296228del;153296207_153296220del;153293220_153296118del] p.Gly335fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3341
c.27-4722_*739delins43 p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3342
c.27-4722_*112delinsCACTTTGTG g.153295706_153302730delinsCACAAAGTG p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3343
c.27-6026_1190delinsGT (deletion of exons 3 and 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3344
c.27-3928_1184del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3345
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3346
c.[27-5862_1132del; 1157_1197del] g.[153296147_153303870del;153296082_153296122del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3347
c.[27-5944_1132del; 1157_1197del] g.[153296147_153303952del;153296082_153296122del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3348
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3349
c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3350
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3351
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3352
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3353
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3354
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3355
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] g.[153296146_153296150delinsACTC;153296079_153296124del46] p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3356
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3358
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3359
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3360
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3361
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3362
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3363
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3364
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3365
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3366
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3367
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3368
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3369
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3370
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3371
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3372
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3373
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3374
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3375
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3376
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 3377
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 3378
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 3379
c.766_779dup14 g.153296500_153296513dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3380
c.905C>T g.153296374G>A p.Pro302Leu missense TRD Unknown Rett syndrome-classical Female 3381
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3382
c.76delC g.153297959delG p.Leu26fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3383
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3384
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3385
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3386
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3387
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3388
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3389
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3390
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3391
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3392
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3393
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3394
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3395
c.372G>C g.153297663C>G p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3396
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 3397
c.905C>G g.153296374G>C p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3398
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3399
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3400
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3401
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3402
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3403
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3404
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3405
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3406
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3407
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3408
c.695delG g.153296584delC p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3409
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3410
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3411
c.470_471delTC g.153296808_153296809delGA p.Phe157fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-preserved speech Female 3412
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] g.[153296223_153296236del14;153296205_153296218del14;153296173_153296175del3;153296116_153296141del26;153296094_153296101del8] p.Glu348fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3413
c.[1051_1065del15; 1088_1115del28; 1138_1207del70] g.[153296214_153296228del15;153296164_153296191del28;153296072_153296141del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3414
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3415
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3416
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3417
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3418
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3419
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3420
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3421
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3422
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3423
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3424
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3425
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3426
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3427
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3428
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3429
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3430
c.397C>G g.153296882G>C p.Arg133Gly missense MBD Unknown Rett syndrome-not certain Female 3431
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3432
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3433
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-not certain Female 3434
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3435
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3436
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3437
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3438
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3439
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3440
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3441
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3442
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3443
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3444
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3445
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3446
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3447
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3448
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3449
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3450
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3451
c.905C>T g.153296374G>A p.Pro302Leu missense TRD Unknown Rett syndrome-not certain Female 3452
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3453
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3454
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3455
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3456
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3457
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3458
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3459
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3460
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3461
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3463
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3464
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3465
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3466
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3467
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3468
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3469
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3470
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3471
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3472
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3473
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3474
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3475
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3476
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3477
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3478
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3479
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3480
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3481
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3482
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3483
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3484
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3485
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3486
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3487
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3488
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3489
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3490
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3491
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3492
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3493
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3494
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3495
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3496
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3497
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3498
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3499
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3500
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3501
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3502
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3503
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3504
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3505
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3506
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3509
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3510
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3511
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3512
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513
c.310T>C g.153297725A>G p.Trp104Arg missense MBD Unknown Rett syndrome-not certain Female 3514
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3515
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516
c.1075T>C g.153296204A>G p.Ser359Pro missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3517
c.[641_653del13; 711_1309del599] g.[153296626_153296638del13;153295970_153296568del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3518
c.894_1095del202 g.153296184_153296385del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3519
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520
c.1048_1095del48 g.153296184_153296231del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3521
c.1196_1266del71 g.153296013_153296083del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3522
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3523
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3524
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3525
c.364G>A g.153297671C>T p.Val122Met missense MBD Unknown Rett syndrome-not certain Female 3526
c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] missense MBD Unknown Rett syndrome-not certain Female 3527
c.386G>T g.153296893C>A p.Gly129Val missense MBD Unknown Rett syndrome-not certain Female 3528
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3529
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3530
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3531
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3532
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3533
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3534
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3535
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3536
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3537
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3538
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3539
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3540
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3541
c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-not certain Female 3542
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3543
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3544
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3545
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3546
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3547
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3548
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3549
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3550
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3551
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3552
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3553
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3554
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3555
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3556
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3557
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3558
c.913A>G g.153296366T>C p.Lys305Glu missense TRD Unknown Rett syndrome-not certain Female 3559
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3560
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3561
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3562
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3563
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3564
c.1015T>C g.153296264A>G p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 3565
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3567
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3568
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3569
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3570
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3571
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3572
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3573
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3574
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3575
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3576
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3577
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3578
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3579
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3580
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3581
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3582
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3583
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3584
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3585
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3586
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3587
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3588
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3589
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3590
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3591
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3592
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3593
c.378-2A>T g.153296903T>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-not certain Female 3594
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 3595
c.119_120delAG g.153297915_153297916delCT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3596
c.710delG g.153296569delC p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3597
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3598
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3599
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3600
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3601
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3602
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3603
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3604
c.881_902del22 g.153296377_153296398del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3605
c.1151_1183del33 g.153296096_153296128del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3607
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3608
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3609
c.1158_1186del29insCCA g.153296093_153296121delinsTGG p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3610
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3611
c.27-?_1021+?del (deletion of exons 3 and start of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3612
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3613
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3614
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3615
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3616
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3617
c.378-?_1170+?del g.153296109_153296901del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3618
c.1169-?_*?del p.Pro390fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3619
c.906_1138del233insAC g.153296141_153296373delinsGT p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 3620
c.1048_1199del152 g.153296080_153296231del152 p.Ser350fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3621
c.392C>A g.153296887G>T p.Ala131Asp missense MBD Unknown Rett syndrome-classical Female 3623
c.401C>T g.153296878G>A p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 3624
c.467A>C g.153296812T>G p.Asp156Ala missense MBD Unknown Rett syndrome-classical Female 3625
c.904C>A g.153296375G>T p.Pro302Thr missense TRD Unknown Rett syndrome-classical Female 3626
c.914A>G g.153296365T>C p.Lys305Arg missense TRD Unknown Rett syndrome-classical Female 3627
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3628
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3629
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3630
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3631
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3632
c.372G>T g.153297663C>A p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3633
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3634
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3635
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3636
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3637
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3638
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3639
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3640
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3641
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3642
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3643
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3644
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 3645
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3646
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3647
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3648
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3649
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3650
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3651
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 3652
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 3653
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3654
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3655
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3656
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3657
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3658
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3659
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3660
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3661
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3662
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3663
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3664
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3665
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3666
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3667
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3668
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3669
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3670
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3671
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3672
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3673
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3674
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3675
c.905C>A g.153296374G>T p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3676
c.905C>A g.153296374G>T p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3677
c.905C>G g.153296374G>C p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3678
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3679
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3680
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3681
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3682
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3683
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3684
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3685
c.203C>G g.153297832G>C p.Ser68* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 3686
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 3687
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3688
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3689
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3690
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3691
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3692
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3693
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3694
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3695
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3696
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3697
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3698
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3699
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3700
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3701
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3702
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3703
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3704
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3705
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3706
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3707
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3708
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3709
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3710
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3711
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3712
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3713
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3714
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3715
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3716
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3717
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3718
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3719
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3720
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3721
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3722
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3723
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3724
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3725
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3726
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3727
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3728
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3729
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3730
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3731
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3732
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3733
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3734
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3735
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3736
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3737
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3738
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3739
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3740
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3741
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3742
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3743
c.107_108delAA g.153297927_153297928delTT p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3744
c.543_544delTC g.153296735_153296736delGA p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 3745
c.1450_1453delAGAG g.153295826_153295829delCTCT p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3746
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3747
c.1115_1326del212 g.153295953_153296164del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3748
c.616_1122del507 g.153296157_153296663del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 3749
c.243dupC g.153297792dupG p.Lys82fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3750
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3751
c.1320dupT g.153295959dupA p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752
c.233delC g.153297802delG p.Ser78fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3753
c.375delC g.153297660delG p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3754
c.695delG g.153296584delC p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female