MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID View record
c.1235_1260del26 g.153296019_153296044del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3 View details
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 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8 View details
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 15 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17 View details
c.1153_1190del38 g.153296089_153296126del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22 View details
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23 View details
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 24 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 31 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 32 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35 View details
c.1012_1202del191 g.153296077_153296267del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36 View details
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37 View details
c.1154_1185del32 g.153296094_153296125del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 45 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 46 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 58 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 59 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 60 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 62 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 63 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 64 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 65 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 66 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 67 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 68 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 69 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 70 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 72 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102 View details
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 224 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 225 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 226 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 227 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 228 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 229 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 230 View details
c.481G>T g.153296798C>A p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 231 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 232 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 233 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 234 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 235 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Not certain Unknown 236 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 239 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 240 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 241 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 242 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 243 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 244 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 245 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 246 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 247 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 248 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 249 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 250 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 251 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 252 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 253 View details
c.439delG g.153296840delC p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 254 View details
c.731_1166del436 g.153296113_153296548del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 255 View details
c.747_751dup5 g.153296528_153296532dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 256 View details
c.1150_1192del43 g.153296087_153296129del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 260 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 261 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 295 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 296 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 297 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 298 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 299 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 302 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 308 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 309 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328 View details
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 330 View details
c.431delA g.153296848delT p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 335 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349 View details
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Not certain Unknown 1008 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1006 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1005 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1004 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1003 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Unknown 1002 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 953 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Classical Female 952 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 951 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 934 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 928 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 924 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918 View details
c.1163_1216del54 g.153296063_153296116del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 919 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 913 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 911 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 912 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Unknown 909 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 910 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 907 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 908 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 905 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 906 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 901 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 902 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 898 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome- Unknown 899 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 896 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 897 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 892 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 893 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 890 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 891 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 888 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 889 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 886 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 887 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 884 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 885 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 882 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 883 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 880 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Unknown 881 View details
c.76delC g.153297959delG p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Unknown 878 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 838 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1542 View details
c.410A>G g.153296869T>C p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd. Male 1012 View details
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 1013 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1014 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1015 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1016 View details
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 1017 View details
c.850A>G g.153296429T>C p.Lys284Glu Missense TRD Unknown Not Rett synd. Male 1018 View details
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1019 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Male 1020 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 1021 View details
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1022 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1023 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031 View details
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1033 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1034 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1035 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1036 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1037 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1038 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1039 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1040 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1041 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1042 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1043 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1044 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1045 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1046 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1047 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1048 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1049 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1050 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1051 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1052 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1053 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1063 View details
c.430A>T g.153296849T>A p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1079 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106 View details
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108 View details
c.554delG g.153296725delC p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1110 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1111 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1112 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1113 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1114 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115 View details
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 View details
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 View details
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 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119 View details
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 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1123 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1124 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1125 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1126 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1130 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1131 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1132 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1133 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1134 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1135 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137 View details
c.257C>G g.153297778G>C p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1138 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139 View details
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140 View details
c.871T>G g.153296408A>C p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1141 View details
c.914A>G g.153296365T>C p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143 View details
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd. Female 1149 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1150 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1151 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Not Rett synd. Female 1152 View details
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1153 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Not Rett synd. Female 1154 View details
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Male 1155 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1177 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178 View details
c.1158_1186del29 g.153296093_153296121del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181 View details
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1193 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Unknown 1194 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 1540 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 1543 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1544 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1546 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1547 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1550 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1551 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1552 View details
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1966 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1967 View details
c.587C>G g.153296692G>C p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 2368 View details
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 2369 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374 View details
c.591G>A g.153296688C>T p.Thr197Thr Silent Inter-domain region Silent polymorphism Not Rett synd. Male 2375 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2376 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Female 2377 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2378 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 2379 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2380 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2381 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2382 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2383 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2384 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2385 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2386 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2387 View details
c.27-55G>A g.153298063C>T intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2661 View details
c.377+18C>G g.153297640G>C intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2662 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2663 View details
c.393C>G g.153296886G>C p.Ala131Ala silent MBD Silent polymorphism Not Rett synd. Unknown 2664 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2665 View details
c.617G>C g.153296662C>G p.Gly206Ala missense inter-domain region Unknown Not Rett synd. Male 2666 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 2667 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2668 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2669 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 2670 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 2672 View details
c.245A>G g.153297790T>C p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd. Male 2673 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2674 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2675 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677 View details
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2678 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679 View details
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2680 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2682 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2683 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2684 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2685 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2686 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2687 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2688 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2689 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2690 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2691 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2692 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2693 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2694 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2695 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2696 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2698 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2699 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2700 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2701 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2702 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2703 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2704 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2705 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706 View details
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2707 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2710 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2711 View details
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2712 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2713 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2714 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2715 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2716 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2717 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2718 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2719 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2720 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2721 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2722 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2723 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2724 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2725 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2726 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2727 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2728 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2729 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2730 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2731 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2732 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2733 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2734 View details
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2735 View details
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2736 View details
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2737 View details
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2738 View details
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2739 View details
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2740 View details
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2741 View details
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2742 View details
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2743 View details
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2744 View details
c.1373G>A g.153295906C>T p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd. Male 3876 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4088 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4089 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4090 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4091 View details
c.1138G>A g.153296141C>T p.Val380Met missense C-term Unknown Not Rett synd. Female 4092 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4093 View details
c.515C>T g.153296764G>A p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4180 View details
c.710delG g.153296569delC p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4182 View details
c.377+266T>C g.153297392A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4199 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4200 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4201 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4202 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4203 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4204 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4205 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4206 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4207 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4208 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4209 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4210 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4211 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4212 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4213 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4214 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4215 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4216 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4217 View details
c.[316C>T(;)1233C>T] g.[153297719G>A;153296046G>A] p.[Arg106Trp(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4226 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4227 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4228 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4229 View details
c.[334A>T(;)871T>G] g.[153297701T>A;153296408A>C] p.[Lys112*(;)Ser291Ala] nonsense, missense MBD, TRD Mutation associated with disease Rett syndrome-Classical Female 4230 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4231 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4232 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4233 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4234 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4235 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4236 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4237 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4238 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4239 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4240 View details
c.[473C>T(;)590C>T] g.[153296806G>A;153296689G>A] p.[Thr158Met(;)Thr197Met] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4241 View details
c.[473C>T(;)1233C>T] g.[153296806G>A;153296046G>A] p.[Thr158Met(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4242 View details
c.[473C>T(;)1335G>A] g.[153296806G>A;153295944C>T] p.[Thr158Met(;)Thr445Thr] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4243 View details
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-Classical Female 4244 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-Classical Female 4245 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4246 View details
c.400T>C g.153296879A>G p.Ser134Pro missense MBD Unknown Rett syndrome-Classical Female 4247 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4248 View details
c.[397C>T(;)1233C>T] g.[153296882G>A;153296046G>A] p.[Arg133Cys(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 4249 View details
c.[398G>T(;)602C>T] g.[153296881C>A;153296677G>A] p.[Arg133Leu(;)Ala201Val] missense MBD, inter-domain region Unknown Rett syndrome-Classical Female 4250 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4251 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4252 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4253 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4254 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4255 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4256 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4257 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4258 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4259 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4260 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4261 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4262 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4263 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4264 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4265 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4266 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4267 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4268 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4269 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4270 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4271 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 4272 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Rett syndrome-not certain Female 4273 View details
c.666C>G g.153296613G>C p.Val222Val silent TRD Silent polymorphism Rett syndrome-not certain Female 4274 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4275 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4276 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4277 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4278 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4279 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4280 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4281 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4282 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4283 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4284 View details
c.[590C>T(;)916C>T] g.[153296689G>A;153296363G>A] p.[Thr197Met(;)Arg306Cys] missense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 4285 View details
c.[916C>T(;)1233C>T] g.[153296363G>A;153296046G>A] p.[Arg306Cys(;)Ser411Ser] missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 4286 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-Classical Female 4287 View details
c.[1233C>T(;)1460G>T] g.[153296046G>A;153295819C>A] p.[Ser411Ser(;)*487Leuext*27] silent, non-stop C-term Unknown Rett syndrome-Classical Female 4288 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4289 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4290 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4291 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4292 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4293 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4294 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4295 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4296 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4297 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4298 View details
c.[377+28A>G(;)1014C>T] g.[153297630T>C;153296265G>A] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 4334 View details
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease Rett syndrome-Classical Female 4335 View details
c.[378-74C>T(;)473C>T] g.[153296975G>A;153296806G>A] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Rett syndrome-Atypical Female 4336 View details
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4337 View details
c.[426C>T(;)608C>T] g.[153296853G>A;153296671G>A] p.[Phe142Phe(;)Thr203Met] silent, missense MBD, inter-domain region Polymorphism not causing disease Rett syndrome-Atypical Female 4338 View details
c.[455C>G(;)582C>T] g.[153296824G>C;153296697G>A] p.[Pro152Arg(;)Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4339 View details
c.[473C>T(;)*14G>A] g.[153296806G>A;153295804C>T] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Rett syndrome-Atypical Female 4340 View details
c.[763C>T(;)1133C>G] g.[153296516G>A;153296146G>C] p.[Arg255*(;)Ala378Gly] nonsense, missense TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 4341 View details
c.[880C>T(;)1233C>T] g.[153296399G>A;153296046G>A] p.[Arg294*(;)Ser411Ser] nonsense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 4342 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4343 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4344 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-Classical Female 4345 View details
c.289G>T g.153297746C>A p.Asp97Tyr missense MBD Unknown Rett syndrome-Classical Female 4346 View details
c.326dupA g.153297709dupT p.Gln110fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 4347 View details
c.377+1G>A g.153297657C>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Classical Female 4348 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4349 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4350 View details
c.378-14G>A g.153296915C>T intronic variation intronic variation intronic Unknown Rett syndrome-Classical Female 4351 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4352 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4353 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4354 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4355 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4356 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4357 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4358 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4359 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4360 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4361 View details
c.420delG g.153296859delC p.Tyr141fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 4362 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 4363 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4364 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4365 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4366 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4367 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4368 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4369 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4370 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4371 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4372 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4373 View details
c.566dupG g.153296713dupC p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4374 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Female 4375 View details
c.696delC g.153296583delG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 4376 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4377 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4378 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4379 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4380 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4381 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4382 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4383 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4384 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4385 View details
c.900_908del g.153296371_153296379del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Rett syndrome-forme fruste Female 4386 View details
c.777C>T g.153296502G>A p.Ala259Ala silent TRD-NLS Silent polymorphism Not Rett synd. Female 4387 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4388 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Female 4389 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4390 View details
c.603G>A g.153296676C>T p.Ala201Ala silent inter-domain region Silent polymorphism Not Rett synd. Female 4391 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4399 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4400 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4401 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4402 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4403 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4404 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4405 View details
c.1118C>G g.153296161G>C p.Ser373* nonsense C-term Mutation associated with disease Not Known Female 4410 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4411 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4412 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4413 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4414 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4415 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4416 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Male 4417 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4418 View details
c.1170_1207del38 g.153296072_153296109del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4419 View details
c.1214_1230del17 g.153296049_153296065del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4420 View details
c.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Known Female 4421 View details
c.1357C>T g.153295922G>A p.Arg453* nonsense C-term Mutation associated with disease Not Known Female 4422 View details
c.146C>G g.153297889G>C p.Ser49* nonsense N-term Mutation associated with disease Not Known Female 4423 View details
c.194C>G g.153297841G>C p.Ser65* nonsense N-term Mutation associated with disease Not Known Female 4424 View details
c.224C>T g.153297811G>A p. Pro75Leu missense N-term Unknown Not Known Female 4425 View details
c.302C>G g.153297733G>C p.Pro101Arg missense MBD Unknown Not Known Female 4426 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4427 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4428 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4429 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4430 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4431 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4432 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4433 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4434 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4435 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4436 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Not Known Female 4437 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4438 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4439 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4440 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4441 View details
c.464T>G g.153296815A>C p.Phe155Cys missense MBD Unknown Not Known Female 4442 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Not Known Female 4443 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Not Known Female 4444 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4445 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 4446 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4447 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4448 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4449 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4450 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4451 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4452 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Unknown 4453 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4454 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4455 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4456 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4457 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4458 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Rett synd. Female 4459 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4460 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4461 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4462 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4465 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Known Female 4466 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Rett synd. Female 4467 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Known Female 4468 View details
c.55C>T g.153297980G>A p.Gln19* nonsense N-term Mutation associated with disease Not Known Female 4469 View details
c.56dupA g.153297979dupT p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4470 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4471 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4472 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4473 View details
c.673C>A g.153296606G>T p.Pro225Thr missense TRD Mutation associated with disease Not Known Female 4474 View details
c.686C>A g.153296593G>T p.Ser229* nonsense TRD Mutation associated with disease Not Known Female 4475 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Known Female 4476 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Known Male 4477 View details
c.689_756del68 g.153296523_153296590del68 p.Pro230fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4478 View details
c.736_743delinsGTG g.153296536_153296543delinsCAC p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Not Known Female 4479 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4480 View details
c.763_1383del621ins15 p.Arg255_Ile461delins5 in-frame combined insertion and deletion TRD, TRD-NLS, C-term Mutation associated with disease Not Known Female 4481 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4482 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Rett synd. Female 4483 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4484 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4485 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4486 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4487 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4488 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4489 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4490 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4491 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4496 View details
c.834_939del106 g.153296340_153296445del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4497 View details
c.857A>G g.153296422T>C p.Lys286Arg missense TRD Unknown Not Known Female 4498 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4499 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4500 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4501 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4502 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4503 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4505 View details
c.911A>G g.153296368T>C p.Lys304Arg missense TRD Unknown Not Known Female 4506 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4507 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4508 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4509 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4510 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4511 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Not Known Female 4512 View details
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 4513 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4604 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4605 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4606 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4607 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4608 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 4609 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4610 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4611 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4612 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4613 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4614 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4615 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4616 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Unknown 4617 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Female 4618 View details
c.843C>T g.153296436G>A p.Ala281Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4619 View details
c.596C>A g.153296683G>T p.Pro199His missense inter-domain region Unknown Not Rett synd. Female 4620 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 4621 View details
c.426C>T g.153296853G>A p.Phe142Phe silent MBD Silent polymorphism Not Rett synd. Unknown 4622 View details
c.375C>A g.153297660G>T p.Ile125Ile silent MBD Silent polymorphism Not Rett synd. Unknown 4623 View details
c.375C>A g.153297660G>T p.Ile125Ile silent MBD Silent polymorphism Not Rett synd. Unknown 4624 View details
c.375C>A g.153297660G>T p.Ile125Ile silent MBD Silent polymorphism Not Rett synd. Unknown 4625 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 4626 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4627 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4628 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4629 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4630 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 4631 View details
c.627G>A g.153296652C>T p.Val209Val silent TRD Silent polymorphism Not Rett synd. Unknown 4632 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4633 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4634 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 4635 View details
c.1053C>G g.153296226G>C p.Pro351Pro silent C-term Silent polymorphism Not Rett synd. Male 5080 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Male 5081 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5082 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5083 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5084 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5085 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5086 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5087 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5088 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5089 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5090 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5091 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5092 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5093 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5094 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5095 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5096 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5097 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5098 View details
c.1180_1181insT g.153296098_153296099insA p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5110 View details
c.832G>A g.153296447C>T p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd. Female 5236 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 5237 View details
c.[378-109A>G;518C>G] g.[153297010T>C;153296761G>C] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Not Rett synd. Female 5239 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 5250 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 6753 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6752 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 6729 View details
c.1189G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6914 View details
c.419C>T g.153296860G>A missense MBD Mutation associated with disease Not Rett synd. Male 6913 View details
c.608C>T g.153296671G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 6911 View details
c.1255C>T g.153296024G>A missense C-term Unknown Not Rett synd. Female 6912 View details
c.1193A>C g.153296086T>G missense C-term Polymorphism not causing disease Not Rett synd. Male 6910 View details
c.1316C>T g.153295963G>A missense C-term Polymorphism not causing disease Not Rett synd. Female 6909 View details
c.590C>T g.153296689G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 6908 View details
c.426C>T g.153296853G>A missense MBD Silent polymorphism Not Rett synd. Male 6907 View details
MECP2_e1: c.1225G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6905 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6906 View details
c.1358G>A g.153295921C>T missense C-term Unknown Not Known Female 6904 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 192 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 218 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 219 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 220 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 221 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 222 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 223 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 404 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 405 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 849 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 848 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 847 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 837 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 836 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 835 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 834 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 833 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Rett synd. Male 1199 View details
c.753dupC g.153296526dupG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1200 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Rett synd. Male 1239 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1240 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1265 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1266 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1267 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1268 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1269 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1270 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1271 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1272 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1479 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 1480 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1481 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 1493 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1495 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 1496 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Female 1497 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1498 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1562 View details
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 View details
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 View details
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 View details
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1572 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1575 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 1576 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Not Rett synd. Male 1577 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1578 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1579 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1580 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1581 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1582 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1583 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1584 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1585 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1586 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 1669 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1672 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 1673 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1817 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1818 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1982 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1983 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1987 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1988 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1989 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1990 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1991 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1992 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Male 1993 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1994 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1995 View details
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd. Female 1996 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1998 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2214 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2505 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2506 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2548 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2549 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755 View details
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 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 2763 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3801 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3802 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 5302 View details
c.454C>G g.153296825G>C p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd. Female 3856 View details
c.454C>G g.153296825G>C p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd. Male 3857 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3859 View details
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3861 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3862 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3863 View details
c.[1155_1172del18; 1373G>A] g.[153296107_153296124del18;153295906C>T] p.[Leu386_Pro391del; Arg458His] in-frame insertion or deletion, missense c-term Unknown Rett syndrome-not certain Female 3874 View details
c.[1373G>A; 1448_*29del43] g.[153295906C>T;153295789_153295831del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Rett syndrome-not certain Female 3875 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3933 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3934 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Not Rett synd. Female 3980 View details
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 3981 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 3982 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3987 View details
c.365T>C g.153297670A>G p.Val122Ala missense MBD Unknown Not Rett synd. Male 4036 View details
c.365T>C g.153297670A>G p.Val122Ala missense MBD Unknown Not Rett synd. Female 4037 View details
c.365T>C g.153297670A>G p.Val122Ala missense MBD Unknown Not Rett synd. Female 4038 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4043 View details
c.439G>A g.153296840C>T p.Asp147Asn missense MBD Polymorphism not causing disease Not Rett synd. Female 4044 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4045 View details
c.36G>C g.153297999C>G p.Lys12Asn missense N-term Polymorphism not causing disease Not Rett synd. Male 4046 View details
c.1451G>C g.153295828C>G p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4047 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4048 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4049 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd. Male 4050 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4051 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4052 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4053 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4054 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4055 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4056 View details
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Female 4057 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 4058 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4059 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4060 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4061 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4072 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4073 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4074 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4075 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4103 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4104 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4219 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4220 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4221 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4224 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-male variant Male 4225 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4398 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4770 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4771 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4772 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4773 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4774 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4775 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Male 4776 View details
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 4777 View details
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 4778 View details
c.153C>G g.153297882G>C p.His51Gln missense N-term Unknown Not Rett synd. Female 4788 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4790 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4791 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4792 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4793 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4794 View details
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4806 View details
c.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4807 View details
c.898G>A g.153296381C>T p.Val300Ile missense TRD Unknown Not Rett synd. Female 4880 View details
c.898G>A g.153296381C>T p.Val300Ile missense TRD Unknown Not Rett synd. Female 4881 View details
c.909C>G g.153296370G>C p.Ile303Met missense TRD Unknown Not Rett synd. Female 4882 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4894 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4895 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Male 4966 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Female 4967 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 6673 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6674 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6669 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6668 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6650 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6649 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6648 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Male 6647 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd. Female 6627 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Rett syndrome-classical Female 6626 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd. Female 6601 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd. Male 6600 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Female 6581 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Male 6580 View details
MECP2_e1: c.638C>T g.153296677G>A missense TRD Polymorphism not causing disease Not Known Male 6898 View details
MECP2_e1: c.653G>C g.153296662C>G missense TRD Unknown Not Known Female 6900 View details
MECP2_e1: c.1453G>C g.153295862C>G missense C-term Unknown Not Rett synd. Male 6901 View details
c.298C>G g.153297737G>C p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2807 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2808 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2809 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2810 View details
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811 View details
c.482G>A g.153296797C>T p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813 View details
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 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819 View details
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 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822 View details
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 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824 View details
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 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-classical Female 2830 View details
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 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3355 View details
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 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4062 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4063 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4064 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4065 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4066 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4067 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4068 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4069 View details
c.710delG g.153296569delC p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4070 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4071 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4076 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4077 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4078 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 5113 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 5114 View details
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327 View details
c.*156G>T g.153295662C>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6875 View details
c.*92C>T g.153295726G>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6874 View details
c.*9G>A g.153295809C>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6873 View details
c.1449G>A g.153295830C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6872 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6871 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6870 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6869 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6867 View details
c.1197C>T g.153296082G>A silent C-term Silent polymorphism Not Rett synd. Female 6868 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6866 View details
c.1168_1173del6 g.153296106_153296111del6 frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6865 View details
c.1133C>G g.153296146G>C Missense C-term Polymorphism not causing disease Not Rett synd. Female 6864 View details
c.1035A>G g.153296244T>C silent C-term Silent polymorphism Not Rett synd. Female 6863 View details
c.996C>T g.153296283G>A silent C-term Silent polymorphism Not Rett synd. Female 6862 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6861 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6860 View details
c.834C>T g.153296445G>A silent TRD Silent polymorphism Rett syndrome-atypical Female 6859 View details
c.819G>T g.153296460C>A silent TRD Silent polymorphism Not Rett synd. Female 6858 View details
c.683C>G g.153296596G>C Missense TRD Polymorphism not causing disease Rett syndrome-classical Female 6857 View details
c.683C>G g.153296596G>C Missense TRD Polymorphism not causing disease Not Rett synd. Female 6856 View details
c.587C>G g.153296692G>C Missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 6855 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6853 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6854 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6852 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6851 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6850 View details
c.378-65C>G g.153296966G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6849 View details
c.378-74C>T g.153296975G>A intronic intronic Polymorphism not causing disease Not Rett synd. Female 6848 View details
c.377+22C>G g.153297636G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6847 View details
c.375C>A g.153297660G>T silent MBD Silent polymorphism Not Rett synd. Female 6846 View details
MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 6845 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6844 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6843 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6842 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6841 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Male 6840 View details
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd. Female 6839 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 106 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 108 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 109 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119 View details
c.904C>G g.153296375G>C p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121 View details
c.[965C>T(;)999G>T] g.[153296314G>A;153296280C>A] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Rett syndrome-Not certain Female 122 View details
c.258_259delCA g.153297776_153297777delTG p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126 View details
c.1364_1365insC g.153295914_153295915insG p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 206 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207 View details
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 209 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 210 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 211 View details
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 212 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 217 View details
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 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 877 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 876 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 875 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 874 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 873 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 872 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 871 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 870 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 869 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 868 View details
c.463T>A g.153296816A>T p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 867 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866 View details
c.291C>A g.153297744G>T p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 865 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 864 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 863 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 862 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 861 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 860 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 859 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 858 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 857 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 856 View details
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 View details
c.1123_1191del69 g.153296088_153296156del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 854 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853 View details
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 View details
c.1159_1201del43 g.153296078_153296120del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851 View details
c.167_168delCC g.153297867_153297868delGG p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 1024 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1529 View details
c.345delC g.153297690delG p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1201 View details
c.898_1099del202 g.153296180_153296381del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1202 View details
c.989_994delinsGCATCTTCTCCTCTTT g.153296285_153296290delinsAAAGAGGAGAAGATGC p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203 View details
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Unknown 1204 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1241 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1243 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1244 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1245 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1246 View details
c.531delA g.153296748delT p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247 View details
c.635_655del21 g.153296624_153296644del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Rett syndrome-Not certain Female 1248 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1249 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1250 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1251 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1252 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253 View details
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254 View details
c.1099_1118del20 g.153296161_153296180del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255 View details
c.1121_1191del71 g.153296088_153296158del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258 View details
c.1167_1200del34 g.153296079_153296112del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259 View details
c.55C>T g.153297980G>A p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 1264 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1397 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1398 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1399 View details
c.898G>A g.153296381C>T p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 1400 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403 View details
c.64A>T g.153297971T>A p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1404 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1421 View details
c.889C>T g.153296390G>A p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1422 View details
c.696delC g.153296583delG p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1423 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1424 View details
c.736_737insAT g.153296542_153296543insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1425 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426 View details
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428 View details
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431 View details
c.903C>T g.153296376G>A p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1432 View details
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435 View details
c.411delG g.153296868delC p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1484 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1494 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Unknown 1502 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1503 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1504 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1505 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1506 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1507 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1508 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1509 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Unknown 1510 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1511 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1512 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1513 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1514 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1515 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1516 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1517 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1518 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-classical Unknown 1521 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-classical Unknown 1522 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1523 View details
c.1190dupA g.153296089dupT p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524 View details
c.100_103delGATA g.153297932_153297935delTATC p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Unknown 1525 View details
c.451delG g.153296828delC p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1526 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527 View details
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 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1530 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1531 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Not Rett synd. Female 1533 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1534 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1535 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1537 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1539 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1560 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1661 View details
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1663 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1665 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1666 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1668 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670 View details
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671 View details
c.529A>T g.153296750T>A p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677 View details
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1678 View details
c.523A>T g.153296756T>A p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1685 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Not Known Female 1686 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Not Known Female 1687 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694 View details
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712 View details
c.229_238del10 g.153297797_153297806del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1715 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721 View details
c.807_*125del780 g.153295693_153296472del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1723 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1726 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1729 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731 View details
c.194C>G g.153297841G>C p.Ser65* Nonsense N-term Mutation associated with disease Not Known Female 1732 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1734 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Not Known Female 1735 View details
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1737 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739 View details
c.401C>T g.153296878G>A p.Ser134Phe Missense MBD Unknown Not Known Female 1740 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744 View details
c.1041_*29del450 g.153295789_153296238del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1746 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1749 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750 View details
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Not Known Female 1755 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757 View details
c.854dupA g.153296425dupT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761 View details
c.46C>T g.153297989G>A p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1762 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Female 1763 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765 View details
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770 View details
c.210C>T g.153297825G>A p.Ser70Ser Silent N-term Silent polymorphism Not Known Male 1771 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773 View details
c.651_652delTG g.153296627_153296628delCA p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1774 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776 View details
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1779 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786 View details
c.715delG g.153296564delC p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Not Known Female 1788 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789 View details
c.760A>T g.153296519T>A p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1790 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793 View details
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 1794 View details
c.710dupG g.153296569dupC p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1795 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797 View details
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 1798 View details
c.864dupG g.153296415dupC p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1802 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Known Female 1805 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1809 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 1810 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 1811 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1815 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1820 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1823 View details
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 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1826 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829 View details
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 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1836 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1838 View details
c.470dupT g.153296809dupA p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1839 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1844 View details
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 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd. Female 1846 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1847 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1850 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1851 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1852 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Not Rett synd. Male 1853 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1855 View details
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 View details
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1857 View details
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858 View details
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862 View details
c.1123_1202del80 g.153296077_153296156del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1865 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1867 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1871 View details
c.748_753del6insGGCCG g.153296526_153296531delinsCGGCC p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872 View details
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 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1874 View details
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 View details
c.108_111delAGAA g.153297924_153297927delTTCT p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1876 View details
c.297C>G g.153297738G>C p.Thr99Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1877 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881 View details
c.341G>C g.153297694C>G p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Male 1885 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1886 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1887 View details
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 1891 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894 View details
c.792_793delTC g.153296486_153296487delGA p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1896 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1897 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898 View details
c.819G>T g.153296460C>A p.Gly273Gly Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1899 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd. Male 1904 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906 View details
c.1012_1193del182 g.153296086_153296267del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1908 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910 View details
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911 View details
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1912 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1918 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1919 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004 View details
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 View details
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 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2007 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014 View details
c.910A>G g.153296369T>C p.Lys304Glu Missense TRD Unknown Not Known Female 2015 View details
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 2016 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2019 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024 View details
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 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028 View details
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 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Known Male 2030 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2037 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040 View details
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 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2044 View details
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 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2046 View details
c.752_753dupCC g.153296526_153296527dupGG p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Male 2047 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052 View details
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 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054 View details
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 View details
c.479C>G g.153296800G>C p.Thr160Ser Missense MBD Unknown Not Known Female 2058 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Known Female 2059 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd. Male 2062 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064 View details
c.362A>G g.153297673T>C p.Asp121Gly Missense MBD Unknown Not Known Female 2065 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2066 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067 View details
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 View details
c.464T>G g.153296815A>C p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069 View details
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2071 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2072 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2073 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2075 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2076 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2077 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2078 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2079 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2080 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2081 View details
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2082 View details
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 View details
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 View details
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 View details
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 View details
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 View details
[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 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Not Rett synd. Female 2089 View details
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090 View details
c.617delG g.153296662delC p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091 View details
c.695delG g.153296584delC p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2092 View details
c.710delG g.153296569delC p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2093 View details
c.753delC g.153296526delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2094 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2095 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2096 View details
c.806delG g.153296473delC p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2097 View details
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099 View details
c.126dupG g.153297909dupC p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 2100 View details
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101 View details
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102 View details
c.654_657delGAAG g.153296622_153296625delCTTC p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2103 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104 View details
c.865A>T g.153296414T>A p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116 View details
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121 View details
c.897C>T g.153296382G>A p.Thr299Thr Silent TRD Silent polymorphism Rett syndrome-Atypical Female 2122 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2123 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2124 View details
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126 View details
c.815C>T g.153296464G>A p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127 View details
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Known Female 2128 View details
c.690A>C g.153296589T>G p.Pro230Pro Silent TRD Silent polymorphism Not Rett synd. Male 2129 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130 View details
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 2131 View details
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Known Female 2132 View details
c.720C>T g.153296559G>A p.Thr240Thr Silent TRD Silent polymorphism Not Rett synd. Male 2133 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2134 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Not Rett synd. Male 2135 View details
c.585C>T g.153296694G>A p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 2136 View details
c.386G>T g.153296893C>A p.Gly129Val Missense MBD Unknown Not Known Female 2137 View details
c.277C>T g.153297758G>A p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 2138 View details
c.215C>T g.153297820G>A p.Pro72Leu Missense N-term Unknown Not Known Male 2139 View details
c.168C>T g.153297867G>A p.Pro56Pro Silent N-term Silent polymorphism Not Known Male 2140 View details
c.155A>G g.153297880T>C p.His52Arg Missense N-term Unknown Not Rett synd. Female 2141 View details
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd. Male 2144 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd. Female 2148 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2149 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2150 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Male 2151 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 2153 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 2154 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2155 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Male 2156 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2157 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2159 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Known Female 2160 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Rett synd. Male 2161 View details
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 View details
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166 View details
c.302C>A g.153297733G>T p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2167 View details
c.302C>T g.153297733G>A p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2168 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2170 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2171 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2172 View details
c.674C>G g.153296605G>C p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2173 View details
c.905C>T g.153296374G>A p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2175 View details
c.905C>G g.153296374G>C p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2176 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178 View details
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181 View details
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182 View details
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 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190 View details
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 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2192 View details
c.730C>T g.153296549G>A p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2193 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Not Rett synd. Female 2195 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205 View details
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 View details
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 2207 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224 View details
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 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245 View details
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 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2331 View details
c.917G>A g.153296362C>T p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2332 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2333 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2334 View details
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335 View details
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336 View details
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 2337 View details
c.146C>A g.153297889G>T p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 2338 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2339 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2340 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2341 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2342 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2343 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2344 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2345 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2346 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2347 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2348 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2349 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2350 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2351 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2352 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2353 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2354 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2355 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2356 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2357 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2358 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2359 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2360 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2361 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2362 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2363 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2364 View details
c.91delG g.153297944delC p.Val31* Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2365 View details
c.311_323del13 g.153297712_153297724del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 2366 View details
c.311G>A g.153297724C>T p.Trp104* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2367 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 2490 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2491 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2492 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2493 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2495 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd. Male 2496 View details
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2498 View details
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 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2529 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Female 2530 View details
c.27-12521_*5072del19784 g.153290746_153310529del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531 View details
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 View details
c.1023_*14472del14911 g.153281346_153296256del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2534 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2535 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2536 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2537 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2554 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2555 View details
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2556 View details
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 View details
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 View details
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 View details
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 View details
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 View details
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 View details
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 2563 View details
c.289G>T g.153297746C>A p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2649 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2650 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2651 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 2652 View details
c.819G>T g.153296460C>A p.Gly273Gly silent TRD Silent polymorphism Not Rett synd. Unknown 2653 View details
c.897C>T g.153296382G>A p.Thr299Thr silent TRD Silent polymorphism Not Rett synd. Unknown 2654 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 2655 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2656 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2657 View details
c.1430G>C g.153295849C>G p.Ser477Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2658 View details
c.679C>G g.153296600G>C p.Gln227Glu missense TRD Unknown Not Rett synd. Female 2660 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 2745 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Male 2746 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2747 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2748 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2749 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2750 View details
c.609G>A g.153296670C>T p.Thr203Thr silent inter-domain region Silent polymorphism Not Rett synd. Male 2751 View details
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 2752 View details
c.906C>G g.153296373G>C p.Pro302Pro silent TRD Silent polymorphism Not Rett synd. Male 2753 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3915 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2764 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2765 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2766 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2767 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 2768 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2782 View details
c.-168-?_26+?del g.153357642_153363130del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2783 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2784 View details
c.27-?_1185+?del g.153296094_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2785 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786 View details
c.27-?_1337+?del g.153295942_153298008del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2787 View details
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2789 View details
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 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2791 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792 View details
c.225G>A g.153297810C>T p.Pro75Pro silent N-term Silent polymorphism Not Rett synd. Male 3020 View details
c.[528C>G; 897C>T] g.[153296751G>C;153296382G>A] p.[Pro176Pro; Thr299Thr] silent inter-domain region Silent polymorphism Not Rett synd. Male 3021 View details
c.573C>T g.153296706G>A p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd. Male 3022 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3023 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3024 View details
c.686C>T g.153296593G>A p.Ser229Leu missense TRD Polymorphism not causing disease Not Rett synd. Male 3025 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Male 3026 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 3027 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3028 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3029 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3030 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3031 View details
c.683C>G g.153296596G>C p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd. Male 3032 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3033 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3034 View details
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3050 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3068 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3069 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3070 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3071 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3072 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3073 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3074 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3075 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3076 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3079 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081 View details
c.291C>A g.153297744G>T p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095 View details
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3113 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3114 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3115 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3118 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3119 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3120 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3121 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3122 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3123 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3124 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3125 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3126 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3127 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3128 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3129 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3130 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3131 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3132 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3133 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3134 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3135 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3136 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3137 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3138 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3139 View details
c.904C>G g.153296375G>C p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140 View details
c.908T>G g.153296371A>C p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141 View details
c.910A>G g.153296369T>C p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3159 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3160 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3161 View details
c.917G>A g.153296362C>T p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3162 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165 View details
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167 View details
c.28G>T g.153298007C>A p.Glu10* nonsense N-term Mutation associated with disease Rett syndrome-not certain Female 3168 View details
c.382C>T g.153296897G>A p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3169 View details
c.413T>A g.153296866A>T p.Leu138* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3170 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3181 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3182 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3183 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3184 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3185 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3186 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3187 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3188 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3189 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3190 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3191 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3192 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3193 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3194 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3195 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3196 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3197 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3198 View details
c.538A>T g.153296741T>A p.Lys180* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3199 View details
c.592A>T g.153296687T>A p.Arg198* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3200 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3201 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3202 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3203 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3204 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3205 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3206 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3207 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3208 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3209 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3210 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3211 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3212 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3213 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3214 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3215 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3216 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3217 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3218 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3219 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3220 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3221 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3222 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3223 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3224 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3225 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3226 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3227 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3228 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3229 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3230 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3231 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3232 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3233 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3234 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3235 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3236 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3237 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3238 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3239 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3240 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3241 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3242 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3243 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3244 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3245 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3246 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3247 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3248 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3249 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3250 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3251 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3252 View details
c.1-?dup g.153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3253 View details
c.1-?_26+?dup g.153357642_153357667dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3254 View details
c.107_113del7 g.153297922_153297928del7 p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3255 View details
c.117dupA g.153297918dupT p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3256 View details
c.215_216insT g.153297819_153297820insA p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3257 View details
c.382_1189del808 g.153296090_153296897del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3258 View details
c.475delG g.153296804delC p.Val159* frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3259 View details
c.480delT g.153296799delA p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3260 View details
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 View details
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 View details
c.676_677insA g.153296602_153296603insT p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3263 View details
c.676_677insA g.153296602_153296603insT p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3264 View details
c.696delC g.153296583delG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3265 View details
c.711_1269del559 g.153296010_153296568del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3266 View details
c.748_749insT g.153296530_153296531insA p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3267 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3268 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3269 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3270 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3271 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3272 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3273 View details
c.806delG g.153296473delC p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3274 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275 View details
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 View details
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277 View details
c.851_1188del338 g.153296091_153296428del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3278 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3279 View details
c.865_866delAA g.153296413_153296414delTT p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3280 View details
c.883delT g.153296396delA p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3281 View details
c.898delG g.153296381delC p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3282 View details
c.906delC g.153296373delG p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3283 View details
c.1009_1027del19 g.153296252_153296270del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284 View details
c.1046_1206del161 g.153296073_153296233del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3285 View details
c.1078_*2524del2908 g.153293294_153296201del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3286 View details
c.1105_1225del121 g.153296054_153296174del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287 View details
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 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3289 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3290 View details
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 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3292 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3293 View details
c.1155_1183del29 g.153296096_153296124del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3294 View details
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 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3297 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3298 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3299 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3300 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3301 View details
c.1156_1157dupCT g.153296122_153296123dupAG p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3302 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3303 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3304 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3305 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3306 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3307 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3308 View details
c.1157_*944del1249 g.153294874_153296122del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3309 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311 View details
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 View details
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3314 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3315 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3316 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3317 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3318 View details
c.1164delA g.153296115delT p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3319 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3320 View details
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 View details
c.1202dupG g.153296077dupC p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3322 View details
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3324 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3325 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3326 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3327 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3328 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3329 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3330 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3331 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3332 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3333 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3334 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3335 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3336 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3337 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3338 View details
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3339 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3418 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3419 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3420 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3421 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3422 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3423 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3424 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3425 View details
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3426 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3427 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3428 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3429 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3430 View details
c.397C>G g.153296882G>C p.Arg133Gly missense MBD Unknown Rett syndrome-not certain Female 3431 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3432 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3433 View details
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-not certain Female 3434 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3435 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3436 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3437 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3438 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3439 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3440 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3441 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3442 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3443 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3444 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3445 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3446 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3447 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3448 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3449 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3450 View details
c.674C>G g.153296605G>C p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3451 View details
c.905C>T g.153296374G>A p.Pro302Leu missense TRD Unknown Rett syndrome-not certain Female 3452 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3453 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3454 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3455 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3456 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3457 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3458 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3459 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3460 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3461 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3466 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3467 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3468 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3469 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3470 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3471 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3472 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3473 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3474 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3475 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3476 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3477 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3478 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3479 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3480 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3481 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3482 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3483 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3484 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3485 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3486 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3487 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3488 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3489 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3490 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3491 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3496 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3497 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3498 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3499 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3500 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3501 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3502 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3503 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3505 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3506 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3509 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3510 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3511 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3512 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513 View details
c.310T>C g.153297725A>G p.Trp104Arg missense MBD Unknown Rett syndrome-not certain Female 3514 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3515 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516 View details
c.1075T>C g.153296204A>G p.Ser359Pro missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3517 View details
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 View details
c.894_1095del202 g.153296184_153296385del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3519 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520 View details
c.1048_1095del48 g.153296184_153296231del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3521 View details
c.1196_1266del71 g.153296013_153296083del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3522 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3788 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3789 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3790 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3791 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3792 View details
c.856_859delAAAG g.153296420_153296423delCTTT p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3793 View details
c.[397C>T; 602C>T] g.[153296882G>A;153296677G>A] p.[Arg133Cys; Ala201Val] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-male variant Male 3794 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3795 View details
c.358T>G g.153297677A>C p.Tyr120Asp missense MBD Unknown Rett syndrome-not certain Female 3796 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3797 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3916 View details
c.925C>T g.153296354G>A p.Arg309Trp missense TRD Unknown Not Rett synd. Male 3909 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3917 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3918 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3919 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Unknown 3920 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3921 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3922 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3923 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3924 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3925 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3926 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3927 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3928 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3929 View details
c.815C>T g.153296464G>A p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd. Female 3930 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3931 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3932 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3935 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3936 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Female 3937 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 3938 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3939 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3941 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3942 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3943 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3944 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3945 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Male 3946 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3947 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3948 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3949 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Male 3950 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3951 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3952 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3953 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3954 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3955 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3956 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3957 View details
c.695G>C g.153296584C>G p.Gly232Ala missense TRD Polymorphism not causing disease Rett syndrome-NK Female 3958 View details
c.695G>C g.153296584C>G p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd. Unknown 3959 View details
c.695G>C g.153296584C>G