Variant information



Systematic Name c.473C>T
Protein name p.Thr158Met
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Rett syndrome-Male variant 61
2 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 62
3 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 63
4 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 64
5 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 65
6 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 66
7 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 67
8 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 68
9 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 69
10 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 70
11 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 71
12 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 72
13 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 108
14 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 109
15 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 139
16 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 145
17 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 146
18 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 163
19 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 164
20 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 165
21 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 166
22 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 167
23 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 192
24 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 193
25 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 228
26 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 229
27 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 230
28 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 267
29 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 268
30 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 295
31 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 296
32 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 297
33 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 298
34 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 299
35 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 354
36 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 359
37 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 363
38 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 379
39 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 402
40 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 404
41 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 405
42 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 422
43 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 434
44 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 439
45 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 447
46 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 453
47 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 461
48 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 463
49 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 465
50 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 953
51 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 934
52 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 928
53 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 924
54 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 890
55 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 888
56 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 889
57 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 886
58 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 887
59 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 884
60 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 885
61 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 868
62 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 841
63 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1033
64 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1034
65 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1035
66 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1036
67 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1037
68 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1038
69 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1039
70 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1040
71 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1041
72 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1042
73 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1043
74 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1044
75 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1045
76 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1046
77 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1047
78 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1048
79 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1049
80 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1050
81 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1051
82 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1052
83 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1053
84 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1163
85 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1164
86 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1165
87 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1177
88 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1197
89 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1212
90 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1214
91 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1217
92 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1226
93 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1245
94 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1246
95 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1293
96 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1294
97 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1295
98 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1296
99 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1297
100 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1298
101 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1299
102 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1300
103 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Rett syndrome-Classical 1387
104 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1397
105 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1398
106 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1399
107 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1442
108 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1443
109 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1444
110 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1464
111 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1465
112 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1466
113 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 1479
114 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 1480
115 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1481
116 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-classical 1506
117 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-classical 1507
118 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1508
119 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1509
120 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 1556
121 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-atypical 1559
122 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1621
123 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1645
124 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1661
125 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1663
126 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1665
127 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1666
128 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1685
129 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1715
130 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1723
131 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1746
132 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1749
133 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1779
134 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1802
135 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1836
136 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1847
137 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1855
138 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1874
139 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1886
140 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1887
141 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1927
142 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1931
143 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1933
144 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1935
145 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1941
146 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1947
147 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1948
148 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1950
149 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2001
150 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2019
151 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2046
152 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2066
153 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2339
154 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2340
155 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2341
156 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2342
157 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2343
158 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 2344
159 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2345
160 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2346
161 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2347
162 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2348
163 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2349
164 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2350
165 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2351
166 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2352
167 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2353
168 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2354
169 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2355
170 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2356
171 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2357
172 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2358
173 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2359
174 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2360
175 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2361
176 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2362
177 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2363
178 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2364
179 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2405
180 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Forme fruste 2415
181 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2425
182 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2428
183 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2440
184 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2442
185 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2444
186 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2448
187 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2464
188 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2472
189 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Congenital onset 2478
190 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2480
191 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2483
192 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2486
193 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 2492
194 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 2540
195 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Male Rett syndrome-male variant 2548
196 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Male Rett syndrome-male variant 2549
197 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2582
198 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2583
199 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2584
200 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2585
201 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2586
202 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2587
203 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2588
204 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2589
205 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2590
206 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2591
207 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2592
208 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2807
209 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2808
210 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2809
211 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2810
212 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2854
213 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2855
214 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2873
215 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2874
216 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2893
217 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2894
218 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2935
219 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2936
220 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2937
221 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2959
222 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2960
223 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2961
224 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2962
225 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2963
226 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2988
227 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2989
228 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2996
229 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2997
230 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2998
231 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2999
232 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3038
233 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3039
234 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3068
235 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3069
236 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3070
237 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3071
238 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3072
239 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3073
240 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3074
241 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3075
242 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3076
243 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3118
244 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3119
245 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3120
246 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3121
247 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3122
248 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3123
249 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3124
250 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3125
251 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3126
252 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3127
253 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3128
254 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3129
255 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3130
256 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3131
257 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3132
258 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3133
259 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3134
260 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3135
261 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3136
262 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3137
263 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3374
264 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3375
265 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 3376
266 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3384
267 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3390
268 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3391
269 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3392
270 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3442
271 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3443
272 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3444
273 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3445
274 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3446
275 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3447
276 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3448
277 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3449
278 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3450
279 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3543
280 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3544
281 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3545
282 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3546
283 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3547
284 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3548
285 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3549
286 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3550
287 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3551
288 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3552
289 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3553
290 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3554
291 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3555
292 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3556
293 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3557
294 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3654
295 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3655
296 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3656
297 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3657
298 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3658
299 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3659
300 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3660
301 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3661
302 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3662
303 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3663
304 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3664
305 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3665
306 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3666
307 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3667
308 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3668
309 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3669
310 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3670
311 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3671
312 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3672
313 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3673
314 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3674
315 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3675
316 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3788
317 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3789
318 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3792
319 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Rett synd. 3980
320 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4063
321 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4064
322 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4065
323 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4109
324 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4110
325 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4111
326 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4112
327 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4113
328 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4114
329 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4115
330 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4116
331 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Rett synd. 5298
332 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4231
333 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4232
334 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4233
335 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4234
336 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4235
337 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4236
338 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4237
339 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4238
340 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4239
341 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4240
342 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4301
343 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4302
344 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4303
345 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4304
346 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4312
347 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4364
348 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4365
349 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4366
350 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4367
351 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4368
352 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4369
353 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4370
354 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4447
355 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4448
356 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4449
357 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4450
358 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4451
359 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4452
360 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Unknown Not Known 4453
361 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4454
362 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4455
363 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4456
364 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4457
365 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4740
366 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4741
367 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4742
368 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4743
369 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4744
370 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4745
371 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4810
372 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4836
373 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4837
374 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4838
375 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4839
376 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4868
377 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4869
378 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4906
379 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4907
380 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4918
381 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4919
382 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4923
383 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5051
384 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5052
385 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5053
386 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 5125
387 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6736
388 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6735
389 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6733
390 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-congenital onset 6734
391 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6530
392 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6529
393 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6528
394 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6527
395 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6526
396 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6525
397 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6524
398 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6523
399 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6522
400 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6521
401 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6520
402 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6519
403 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6518
404 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6517
405 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6516
406 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6515
407 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6514
408 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6513
409 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6512
410 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6511
411 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6510
412 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6509
413 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6508
414 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6507
415 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6506
416 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6505
417 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6504
418 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6503
419 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6502