| Mutation Type | Nucleotide Change | AA Change | Number of Patients | Phenotype Category | Reference |
| |
| early truncating | 763C>T | Arg255* | 26 | classic Rett, ND (age less than 4 years) |  |
| |
| gene deletion | | | 24 | classic Rett, high functioning PSV, ND (age less t | |
| |
| missense | 473C>T | T158M | 24 | PSV, classic Rett, ND (age less than 4 years) | |
| |
| early truncating | 808C>T | R270X | 22 | classic Rett, forme fruste, ND (age less than 4 ye | |
| |
| early truncating | 502C>T | R168X | 19 | classic Rett, Rett-like | |
| |
| missense | 397C>T | Arg133Cys | 16 | PSV, forme fruste, classic Rett, high functioning |
|
| |
| missense | 916C>T | Arg306Cys | 16 | classic Rett, PSV, Rett-like | |
| |
| missense | 880C>T | Arg294* | 13 | classic Rett, PSV, ND (age less than 4 years) | |
| |
| missense | 455C>G | P152R | 8 | forme fruste, classic Rett, PSV, ND (age less than | |
| |
| late truncating | 1164_1207del | Pro389* | 4 | PSV, classic Rett, ND (age less than 4 years) | |
| |
| missense | 316C>T | R106W | 4 | Rett-like, PSV, classic Rett | |
| |
| early truncating | 423C>G | Y141X | 3 | classic Rett | |
| |
| late truncating | 1163del44 | Pro389* | 3 | PSV, classic Rett, forme fruste | |
| |
| missense | 917G>A | R306H | 3 | classic Rett | |
| |
| missense | 468C>G | D156E | 3 | classic Rett | |
| |
| late truncating | 1163del35 | P388fs | 2 | classic Rett | |
| |
| $nd | 1160_1166delCCCCACC | P387fsX406 | 2 | classic Rett, ND (age less than 4 years) | |
| |
| early truncating | 1164_1207del44 | Pro389* | 2 | classic Rett | |
| |
| missense | C473T | T158M | 2 | classic Rett, ND (age less than 4 years) | |
| |
| missense | 401C>G | S134C | 2 | ND (age less than 4 years), classic Rett | |
| |
| late truncating | 1157del32 | L386fs | 2 | classic Rett, PSV |
|
| |
| missense | 1234G>A | V412I | 1 | ND (age less than 4 years) | |
| |
| late truncating | 1163del17 | P388fs | 1 | forme fruste | |
| |
| missense | 331A>G | R111G | 1 | classic Rett | |
| |
| early truncating | 13delGCCCGC | R5fsX39 | 1 | ND (age less than 4 years) | |
| |
| late truncating | 1163del6 | P388fs | 1 | classic Rett | |
| |
| late truncating | 1326_1327insC | A443Xfs | 1 | classic Rett | |
| |
| late truncating | 1163-1207del44 | P388fs | 1 | PSV | |
| |
| late truncating | 1164_1177del14 | P388fs | 1 | classic Rett | |
| |
| $nd | 1164_1189del | | 1 | classic Rett | |
| |
| early truncating | 119_120delAG | E40fs | 1 | classic Rett | |
| |
| late truncating | 1165del69ins21 | P389_P411del23ins7 | 1 | classic Rett | |
| |
| late truncating | 1357C>T | R453X | 1 | high functioning PSV | |
| |
| late truncating | 1157_1188del32 | L386fs | 1 | classic Rett | |
| |
| late truncating | 1072_1186del114 | A358fs | 1 | ND (age less than 4 years) | |
| |
| early truncating | 108_111del | E37Xfs | 1 | ND (age less than 4 years) | |
| |
| early truncating | 108del4 | K36fs | 1 | classic Rett | |
| |
| early truncating | 1116_1201del86 | H372Qfs* | 1 | classic Rett | |
| |
| late truncating | 1116del86 | H371fs | 1 | classic Rett | |
| |
| $nd | 1124_1176del | | 1 | classic Rett | |
| |
| late truncating | 1148del47 | L383fs | 1 | classic Rett | |
| |
| late truncating | 1151_1352del202 | P384fs | 1 | classic Rett | |
| |
| late truncating | 1152_1193del | P385Xfs | 1 | classic Rett | |
| |
| late truncating | 1155_1198del44 | Q386Xfs | 1 | ND (age less than 4 years) | |
| |
| late truncating | 1162_1187del26 | P388Xfs | 1 | classic Rett | |
| |
| late truncating | 1156del33 | L386fs | 1 | PSV | |
| |
| late truncating | 1163-1201del38 | | 1 | PSV | |
| |
| late truncating | 1157-1188del32 | L386fs | 1 | classic Rett | |
| |
| late truncating | 1157del41 | L386fs | 1 | PSV | |
| |
| late truncating | 1159_1202del | L386Xfs | 1 | PSV | |
| |
| late truncating | 1159-1199del | P387fs | 1 | classic Rett | |
| |
| late truncating | 1159del44 | P387fs | 1 | PSV | |
| |
| late truncating | 1161del6_1180del26 | P387fs | 1 | classic Rett | |
| |
| late truncating | 1162_1179del18 | | 1 | classic Rett | |
| |
| missense | 341G>A | Gly114Asp | 1 | Rett-like | |
| |
| late truncating | 1163_1179del17 | P388Xfs | 1 | PSV | |
| |
| late truncating | 1163_1188del26 | P388fs | 1 | classic Rett | |
| |
| early truncating | 1156_1196del41 | L386Hfs*5 | 1 | classic Rett | |
| |
| early truncating | C502T | R168X | 1 | classic Rett | |
| |
| missense | 401C>T | S134F | 1 | classic Rett | |
| |
| $nd | 864_1272del | K289_L424del | 1 | classic Rett | |
| |
| early truncating | 889C>T | Q297X | 1 | classic Rett | |
| |
| missense | 901C>G | Leu301Val | 1 | Rett-like | |
| |
| missense | 905C>T | P302L | 1 | classic Rett | |
| |
| missense | 925C>T | Arg309Trp | 1 | high functioning PSV | |
| |
| late truncating | 979_1216del239ins24 | T327fs | 1 | Rett-like | |
| |
| late truncating | C.1157 del 40 | | 1 | classic Rett | |
| |
| late truncating | c.1157del41 | | 1 | classic Rett | |
| |
| early truncating | 806-807delG | G269fsX288 | 1 | classic Rett | |
| |
| missense | C397T | R133C | 1 | ND (age less than 4 years) | |
| |
| missense | 802C>T | R268W | 1 | classic Rett | |
| |
| $nd | del ex 3-4 | | 1 | classic Rett | |
| |
| $nd | del ex3, partially ex 4 | | 1 | classic Rett | |
| |
| $nd | delezione esone 1 | | 1 | classic Rett | |
| |
| $nd | delezione esone 3 | | 1 | ND (age less than 4 years) | |
| |
| $nd | delezione parziale ex 4 | | 1 | ND (age less than 4 years) | |
| |
| $nd | delG332-333 | | 1 | classic Rett | |
| |
| gene deletion | esone 3 e parziale esone 4 | | 1 | ND (age less than 4 years) | |
| |
| $nd | exon 4 partially deleted | | 1 | classic Rett | |
| |
| $nd | IVS3-3 C>G | | 1 | classic Rett | |
| |
| late truncating | c.975 del122 ins 78 | | 1 | classic Rett | |
| |
| early truncating | 540delA | | 1 | classic Rett | |
| |
| early truncating | 387del2 | G129fs | 1 | classic Rett | |
| |
| missense | 398G>T | R133L | 1 | classic Rett | |
| |
| late truncating | 1052_1188del37 | | 1 | classic Rett | |
| |
| missense | 403A>G | K135E | 1 | classic Rett | |
| |
| gene duplication | | | 1 | ND (age less than 4 years) | |
| |
| early truncating | 42ins8 | E14fs | 1 | classic Rett | |
| |
| early truncating | 431delA | K144fs | 1 | classic Rett | |
| |
| missense | 433C>T | Arg145Cys | 1 | ND (age less than 4 years) | |
| |
| early truncating | 466G>T | D156Y | 1 | ND (age less than 4 years) | |
| |
| early truncating | 806delG | G269Xfs | 1 | ND (age less than 4 years) | |
| |
| missense | 472A>G | T158A | 1 | PSV | |
| |
| early truncating | 38_48del | | 1 | classic Rett | |
| |
| early truncating | 567insA | R190fs | 1 | classic Rett | |
| |
| early truncating | 576C>T | R168X | 1 | classic Rett | |
| |
| early truncating | 611C>G | S204X | 1 | classic Rett | |
| |
| missense | 674C>G | P225R | 1 | classic Rett | |
| |
| early truncating | 695delG | G232fs | 1 | Rett-like | |
| |
| early truncating | 710delG | | 1 | classic Rett | |
| |
| early truncating | 747_748insCGCCC | P251fs | 1 | classic Rett | |
| |
| early truncating | 750_751insC | P251fs | 1 | classic Rett | |
| |
| early truncating | 753delC | G252fsX288 | 1 | classic Rett | |
| |
| missense | 472A>C | T158P | 1 | classic Rett | |
