Variant information



Systematic Name c.397C>T
Protein name p.Arg133Cys
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 7
2 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 16
3 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 56
4 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 57
5 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 105
6 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 156
7 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 157
8 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 158
9 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 263
10 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 264
11 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 288
12 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 292
13 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 293
14 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 294
15 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 355
16 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 377
17 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 380
18 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 383
19 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 400
20 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 411
21 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 418
22 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 451
23 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 880
24 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Preserved speech 881
25 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 866
26 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 839
27 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1030
28 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1175
29 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1176
30 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1219
31 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1224
32 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1280
33 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1281
34 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1282
35 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1283
36 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1284
37 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1285
38 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1395
39 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1438
40 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1439
41 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1440
42 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1504
43 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1505
44 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1610
45 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1624
46 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1628
47 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1644
48 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1675
49 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1704
50 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1708
51 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1712
52 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1719
53 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1725
54 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1743
55 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1767
56 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1770
57 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1806
58 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1813
59 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1816
60 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1869
61 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-classical 1961
62 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Classical 1997
63 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 1998
64 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1999
65 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2013
66 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2028
67 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2038
68 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2208
69 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2209
70 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2210
71 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2211
72 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2212
73 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2213
74 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2214
75 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2215
76 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2216
77 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2217
78 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2218
79 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2219
80 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Atypical 2220
81 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2221
82 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2222
83 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2223
84 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2224
85 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2389
86 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2399
87 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2411
88 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2430
89 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2447
90 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2475
91 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2482
92 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2491
93 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 2539
94 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2571
95 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2572
96 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2573
97 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2574
98 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2575
99 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2576
100 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2805
101 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2806
102 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2856
103 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2868
104 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2869
105 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2870
106 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2892
107 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2931
108 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2932
109 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2933
110 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2954
111 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2955
112 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2995
113 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3097
114 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3098
115 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3099
116 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3100
117 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3101
118 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3102
119 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3103
120 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3104
121 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3105
122 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3106
123 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3107
124 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3108
125 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3109
126 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3110
127 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 3366
128 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3385
129 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3393
130 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3394
131 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3427
132 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3428
133 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3429
134 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3430
135 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3529
136 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3530
137 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3531
138 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3532
139 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3533
140 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3534
141 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3535
142 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3634
143 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3635
144 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3636
145 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3637
146 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3638
147 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3639
148 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3640
149 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3641
150 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3642
151 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3643
152 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3644
153 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3790
154 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4062
155 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4117
156 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4118
157 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4119
158 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4120
159 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4121
160 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4248
161 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4314
162 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4359
163 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4360
164 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4361
165 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4429
166 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4430
167 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4431
168 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4432
169 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4433
170 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4434
171 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4435
172 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4436
173 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4732
174 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4733
175 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4734
176 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4735
177 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 4809
178 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4832
179 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4833
180 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4834
181 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4835
182 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 4865
183 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4917
184 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5045
185 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5046
186 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 5123
187 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 6729
188 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 6727
189 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6728
190 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Rett synd. 6601
191 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Male Not Rett synd. 6600
192 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6563
193 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6562
194 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6561
195 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6560
196 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6559
197 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6558
198 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6557
199 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6556
200 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6555
201 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6554
202 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6553
203 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6552
204 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6551
205 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6550
206 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6549
207 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6548
208 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6547
209 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6546
210 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6545
211 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6544
212 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6543
213 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6542
214 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6541
215 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6540
216 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6539
217 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6538