Variant information



Systematic Name c.316C>T
Protein name p.Arg106Trp
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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 6
2 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 10
3 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 49
4 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 50
5 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 51
6 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 52
7 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 53
8 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 54
9 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 55
10 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 104
11 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 154
12 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 191
13 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 224
14 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 225
15 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 226
16 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 227
17 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 262
18 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 289
19 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 290
20 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 368
21 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 370
22 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 424
23 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 456
24 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 879
25 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 864
26 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 863
27 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 846
28 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 845
29 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 844
30 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1027
31 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1028
32 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1029
33 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1145
34 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1223
35 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1242
36 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1273
37 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1274
38 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1275
39 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1276
40 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1277
41 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1278
42 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1376
43 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1437
44 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1482
45 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1612
46 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1625
47 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1682
48 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1699
49 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1727
50 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1752
51 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1792
52 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1801
53 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1878
54 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1879
55 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1880
56 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1881
57 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-classical 1924
58 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 2023
59 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 2067
60 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2197
61 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2198
62 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2199
63 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2200
64 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2201
65 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2202
66 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2203
67 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2204
68 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2205
69 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Forme fruste 2419
70 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2438
71 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2470
72 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2565
73 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2566
74 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2567
75 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2568
76 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2569
77 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3036
78 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3037
79 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3067
80 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3087
81 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3088
82 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3089
83 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3090
84 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3091
85 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3092
86 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3093
87 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3094
88 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3382
89 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3395
90 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3419
91 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3420
92 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3421
93 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3422
94 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3423
95 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3424
96 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3523
97 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3524
98 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3628
99 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3629
100 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3630
101 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3803
102 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4135
103 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4136
104 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4137
105 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4138
106 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4139
107 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 4227
108 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 4228
109 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4229
110 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4315
111 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4427
112 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4428
113 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4728
114 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4729
115 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4808
116 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4828
117 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4829
118 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4830
119 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4831
120 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4904
121 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 5054
122 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Rett synd. 6574
123 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6573
124 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6572
125 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6571
126 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6570
127 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6569
128 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6568
129 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6567
130 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6566
131 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6565
132 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6564