MECP2 Proband List



Nucleotide change Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID
MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6845
c.*156G>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6875
c.*92C>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6874
c.*9G>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6873
c.*487G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 48
c.*93G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non Rett syndrome control Unknown 381
c.*8C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 445
c.*8C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 449
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-autism only Female 1386
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1914
c.*122delT 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915
c.*93G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1978
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2119
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2121
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-ADHD Male 2370
c.*177G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-autism only Female 2371
c.*177G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Unaffected family member Female 2372
c.*5348T>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-autism only Male 2373
c.*5348T>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Unaffected family member Female 2374
c.*36G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Angelman syndrome Female 2494
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2527
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2528
c.*92C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638
c.*328G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639
c.*328G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640
c.*359G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641
c.*363G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2674
c.*93G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2675
c.*204G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2676
c.*371G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2677
c.*544G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Unknown 2678
c.*554G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2679
c.*767G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Unknown 2680
c.*861T>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2681
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2682
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2683
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2684
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2685
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2686
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2687
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2688
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2689
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2690
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2691
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2692
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2693
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2694
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2695
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2696
c.*1368C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2697
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2698
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2699
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2700
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2701
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2702
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2703
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2704
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2705
c.*2556T>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2706
c.*2657G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Unknown 2707
c.*2706G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Female 2708
c.*2956G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Male 2709
c.*3477G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2710
c.*3477G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2711
c.*3658C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-Autism Unknown 2712
c.*3878G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2713
c.*4576A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2714
c.*5486_*5487dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2715
c.*7748C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2716
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2717
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2718
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2719
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2720
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2721
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2722
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2723
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2724
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2725
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2726
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2727
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2728
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2729
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2730
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2731
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2732
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2733
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Autism Unknown 2734
c.*393G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2735
c.*489G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2736
c.*529G>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2737
c.*806G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2738
c.*831G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2739
c.*875dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2740
c.*1237T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2741
c.*3662A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2742
c.*4086_*4087delGT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2743
c.*5839C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Unknown 2744
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-atypical Female 3858
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-mental retardation and autism Female 3859
c.*1134G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-congenital Female 3860
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 3861
c.*8500C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3862
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3863
c.*328G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3978
c.*328G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3979
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4000
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4001
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4002
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4003
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4004
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4005
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4006
c.*878C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4007
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4008
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4009
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4010
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4011
c.*1737G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4012
c.*3477G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4013
c.*3477G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4014
c.*3477G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4015
c.*3878G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4016
c.*4576A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4017
c.*4576A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4018
c.*5486_*5487dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4019
c.*7748C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4020
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4021
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4022
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4023
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4024
c.*7856A>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4025
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4026
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4027
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4028
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4029
c.*8503delC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4030
c.*8503dupC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4031
c.*8503dupC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 4032
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4043
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4048
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4049
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-autism Unknown 4201
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4202
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4203
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4204
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4205
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4206
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4207
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4208
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4209
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4210
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4211
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4212
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4213
c.*9G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4214
c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-autism Unknown 4215
c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4216
c.*55C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Male 4217
c.*92C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-classical Female 4300
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Female 4408
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-non Rett syndrome control Female 4409
c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-not certain Female 5226
c.*93G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Unknown 5227
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5228
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5229
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Female 5230
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Female 5231
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-normal control Female 5232
c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd.-unaffected family member Female 6666
c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-forme fruste Female 6665
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 6611
c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd.-unaffected family member Female 6347
c.-15C>T 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-Unaffected family member Female 951
c.-15C>T 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2551
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2552
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd.-non-specific mental retardation Female 2553
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3983
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Male 3984
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Male 3985
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Male 3986
c.1408_1411del4insTG p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5251
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5253
c.[1024_1025insAG;1029delG;1155_1209del55] p.Proro342_Proro403delins44 combined in-frame insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5246
c.820_1153del334ins67 uncertain combined in-frame insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5252
c.[27-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] complex rearrangement, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 3855
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917
c.378-?_1337+?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786
c.378-?_1185+?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788
c.378-?_1337+?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3325
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3326
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3327
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3328
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3329
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3330
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3351
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3352
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 3781
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1820
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1865
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1918
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Not certain Female 1919
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2071
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2072
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2073
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2075
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2076
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2077
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2078
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2079
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2080
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2498
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2534
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2535
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2536
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2537
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2783
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2789
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2791
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2904
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2908
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2909
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3331
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3332
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3333
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3334
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3335
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3336
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3337
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3338
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3339
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3353
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3611
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3615
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3616
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3617
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3767
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3769
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3770
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3771
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3775
c.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 3776
c.-168-?_26+?del (deletion exons 1 and 2) p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-congenital Female 4600
c.631-?_657+?del p.? exonic deletion MBD Mutation associated with disease Rett syndrome-classical Female 3786
c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Rett syndrome-classical Female 4934
c.27-?_*?del (deletion of exons 3 and 4) p.Arg9? exonic deletion N-term Mutation associated with disease Rett syndrome-classical Female 4935
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3768
c.27-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3772
c.27-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3773
c.27-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3774
c.27-?_1397+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3777
c.27-?_1397+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3778
c.27-?_1397+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Rett syndrome-classical Female 3779
c.1017-?_1397+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 3780
c.1169-?_1170+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3782
c.1169-?_1397+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3783
c.1396-?_1397+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3784
c.1396-?_1397+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3785
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 5136
c.184-?_1065+?del p.? exonic deletions MBD Mutation associated with disease Rett syndrome-classical Female 5137
c.1044-?_1442+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5138
c.1044-?_1442+?del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5139
c.[184-?_1065+?del; *5338_*5361+?del] p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 5140
c.631-?_657+?dup p.? exonic duplication MBD Unknown Rett syndrome-preserved speech Female 3787
c.1039_1195del157insGT p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287
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
c.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203
c.1030_1195del166insGT p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1366
c.750_750delCinsTCAGGAAGCTT p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1380
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1603
c.1265_1289del25insAGCGGCCG p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824
c.1161_1205del45insA p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1856
c.748_753del6insGGCCG p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872
c.611_612delinsAG p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1873
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497
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
c.1162_1163delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-sporadic mental retardation Female 2659
c.1129_*568delinsCCGTGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3291
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323
c.27-4722_*739delins43 p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3342
c.27-4722_*112delinsCACTTTGTG p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3343
c.27-6026_1190delinsGT (deletion of exons 3 and 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3344
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3349
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3356
c.1158_1186del29insCCA p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3610
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-ADHD, global developmental delay and OCD Female 5301
c.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Known Female 4421
c.736_743delinsGTG p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Not Known Female 4479
c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 4773
c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4774
c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-mild mental retardation Female 4775
c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Male 4776
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-classical Female 4853
c.867_1223delinsA p.Ser291Glnfs*26 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 4878
c.[584_624del41insTT; 638delTinsCA] p.[Gly195_Gln208delinsVal; Leu213Profs*23] frameshift combined insertion and deletion inter-domain region, TRD Mutation associated with disease Rett syndrome-classical Female 4933
c.869_880delinsCACA p.Glu290Alafs*38 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 5060
c.962_1267delinsG p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-Rett-like Female 5133
c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] frameshift combined insertion and deletion, missense N-term, MBD Mutation associated with disease Rett syndrome-classical Female 2906
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327
c.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? frameshift insertion of deletion N-term Mutation associated with disease Rett syndrome-classical Female 2907
c.1235_1260del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14
c.1153_1190del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 32
c.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35
c.1012_1202del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37
c.1154_1185del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39
c.1160_1185del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40
c.1160_1185del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41
c.1160_1185del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42
c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43
c.1454_1457del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44
c.258_259delCA p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125
c.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126
c.1364_1365insC p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127
c.601dupG p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 135
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 137
c.849_1236del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 138
c.785_818del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 140
c.914_1172del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 143
c.375delC p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 185
c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 186
c.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 187
c.756_759delCAGG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 188
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189
c.439delG p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 254
c.731_1166del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 255
c.747_751dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 256
c.1150_1192del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257
c.1157_1187del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258
c.1158_1200del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259
c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 260
c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 261
c.720dupC p.Thr241fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 285
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 308
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 309
c.431delA p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347
c.1160_1200del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349
c.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367
c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 369
c.[1157_1197del41; 1232_1240del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 384
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 386
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 391
c.1155_1200del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 429
c.480_481delTG p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 443
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448
c.812_818del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 450
c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 468
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 472
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482
c.1158_1167del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946
c.677_678insA p.Phe226fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 944
c.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936
c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 933
c.1165_1190del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 929
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917
c.1151_1188del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915
c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916
c.1145_1194del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914
c.76delC p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Unknown 878
c.1101_1201del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853
c.[1103_1172del; 1185_1191del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 852
c.1159_1201del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851
c.620dupT p.Gln208fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Unknown 843
c.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 1024
c.554delG p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1110
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1111
c.752_753dupCC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1112
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1113
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1114
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119
c.[1163_1173del11; 1176_1193del18] p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1120
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121
c.1308_1309delTC p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Angelman syndrome Female 1151
c.1159_1210del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Angelman syndrome Female 1153
c.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd.-Angelman syndrome Male 1155
c.1158_1186del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181
c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1199
c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1200
c.345delC p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1201
c.898_1099del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1202
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-not certain Unknown 1204
c.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206
c.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1239
c.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1240
c.531delA p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1252
c.880_884del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254
c.1099_1118del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255
c.1121_1191del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258
c.1167_1200del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259
c.201delG p.Ser68fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Unknown 1357
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1358
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1359
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1360
c.1163_*39del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1362
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1363
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1364
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1365
c.1096_1201del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1368
c.1132_1202del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379
c.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1423
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1424
c.736_737insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1425
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426
c.1160_1188del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428
c.1200dupC p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1452
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455
c.1152_1195del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457
c.35_42dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1458
c.566delG p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1468
c.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478
c.411delG p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1484
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1495
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1496
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-X-linked mental retardation Female 1497
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1498
c.1190dupA p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524
c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Unknown 1525
c.451delG p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1526
c.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Unaffected family member Female 1546
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1560
c.422dupA p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1561
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1594
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1598
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1607
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1611
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1618
c.898_904del7 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1620
c.428_429insT p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1641
c.1271_1416del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1668
c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693
c.1105delC p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702
c.1330_1342del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711
c.229_238del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713
c.1338_1354del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716
c.1324_1364del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1734
c.1129_1193del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741
c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744
c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754
c.854dupA p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768
c.651_652delTG p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1774
c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776
c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780
c.715delG p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1795
c.864dupG p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812
c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1815
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834
c.470dupT p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1839
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841
c.1160_1200del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848
c.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1857
c.1123_1202del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863
c.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1871
c.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1876
c.483delG p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888
c.792_793delTC p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1896
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1897
c.1012_1193del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916
c.315dupA p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 1926
c.739delG p.Val247fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1930
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940
c.755delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1951
c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1952
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1965
c.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980
c.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969
c.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1981
c.1135_1142delCCCGTGCC p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Sporadic mental retardation Female 2000
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014
c.1155_1200del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021
c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Male 2047
c.1163_1179del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2081
c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2082
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
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
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
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
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
[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
c.617delG p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091
c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2092
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2093
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2094
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2095
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2096
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2097
c.1097_1203del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098
c.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099
c.126dupG p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 2100
c.654_657delGAAG p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2103
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116
c.1223_1265del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117
c.1052_1200del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179
c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180
c.1152_1195del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181
c.1152_1155del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288
c.994_1346del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335
c.994_998delAGCGG p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336
c.91delG p.Val31* Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2365
c.311_323del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 2366
c.1164_1207del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2487
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
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2501
c.27-12521_*5072del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531
c.651_652delTG p.Gly218fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2542
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2544
c.189_190delGA p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2564
c.753dupC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2598
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2604
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2605
c.816_832del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2609
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2610
c.[1063_1188del126; 1189_1231inv; 1232_1236del5] p.Ser355fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2621
c.1116_1201del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2624
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2625
c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2627
c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2628
c.1164_1207del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2629
c.27-?_*8554+?del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2644
c.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2645
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755
MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770
MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2781
c.27-?_1337+?del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2782
c.27-?_1337+?del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2784
c.27-?_1185+?del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2785
c.27-?_1337+?del p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2787
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
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-progressive encephalopathy of neonatal onset Male 2793
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-progressive encephalopathy of neonatal onset Male 2794
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2801
MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2802
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2803
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2862
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2863
c.830delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2884
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 2885
c.1151_1191del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886
c.734_759del26 p.Val245fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2887
c.756_763dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2888
c.898_901del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2890
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2896
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2905
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-autism only Female 2910
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2916
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2928
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2929
c.215dupC p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2930
c.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950
c.1194_1195insT p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2953
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2971
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2972
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2973
c.-98-?_377+?del (deletion of exons 2 and 3) p.Met1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2975
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3007
c.874_875insA p.Ser292fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3008
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009
c.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3010
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3011
c.140dupA p.Pro48fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3035
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3046
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3047
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066
c.107_113del7 p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3255
c.117dupA p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3256
c.215_216insT p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3257
c.382_1189del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3258
c.475delG p.Val159* frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3259
c.480delT p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3260
c.608_609insA p.Ser204fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3262
c.676_677insA p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3263
c.676_677insA p.Phe226fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3264
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3265
c.711_1269del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3266
c.748_749insT p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3267
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3268
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3269
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3270
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3271
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3272
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3273
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3274
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277
c.851_1188del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3278
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3279
c.865_866delAA p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3280
c.883delT p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3281
c.898delG p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3282
c.906delC p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3283
c.1009_1027del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284
c.1046_1206del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3285
c.1078_*2524del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3286
c.1105_1225del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287
c.[1105_1116del12; 1152_1195del44] p.[His369_His372del; Pro385fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3288
c.1127_1137del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3289
c.1127_1137del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3290
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3292
c.1155_1200del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3293
c.1155_1183del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3294
c.[1159_1174del16; 1205_1432del228] p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3295
c.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3297
c.1157_1199del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3301
c.1156_1157dupCT p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3302
c.1158_1167del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3303
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3304
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3305
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3306
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3307
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3308
c.1157_*944del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3309
c.1158_1200del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310
c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3315
c.1163_1179del17 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3316
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3317
c.1165_1190del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3318
c.1164delA p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3319
c.1165_1190del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3320
c.[1197_1237inv; 1238_1266del] p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3321
c.1202dupG p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3322
c.1454_1457del4 p.Val485fs frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3324
c.27-96_1205del (deletion of exon 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3340
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3341
c.27-3928_1184del (deletion of exons 3 and 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3345
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3346
c.[27-5862_1132del; 1157_1197del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3347
c.[27-5944_1132del; 1157_1197del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3348
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 3350
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3355
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357
c.1145_1194del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3358
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3359
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 3379
c.766_779dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3380
c.76delC p.Leu26fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3383
c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3409
c.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3410
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3411
c.470_471delTC p.Phe157fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-preserved speech Female 3412
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] p.Glu348fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3413
c.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3414
c.1164_1206del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3415
c.1158_1198del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3416
c.1158_1198del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3417
c.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3509
c.1157_1187del31 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3510
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3511
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3512
c.1160_1180del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513
c.894_1095del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3519
c.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520
c.1196_1266del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3522
c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3596
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3597
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3598
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3599
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3600
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3601
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3602
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3603
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3604
c.881_902del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3605
c.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3608
c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3609
c.27-?_1021+?del (deletion of exons 3 and start of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3612
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3613
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3614
c.378-?_1170+?del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3618
c.1169-?_*?del p.Pro390fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3619
c.1048_1199del152 p.Ser350fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3621
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3743
c.107_108delAA p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3744
c.543_544delTC p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 3745
c.1450_1453delAGAG p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3746
c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3747
c.1115_1326del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3748
c.243dupC p.Lys82fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3750
c.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3751
c.1320dupT p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752
c.233delC p.Ser78fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3753
c.375delC p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3754
c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3755
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3756
c.756_759delCAGG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3757
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3758
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3759
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3760
c.1132_1202del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3761
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3765
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3766
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3793
c.378-3_383del9 p.Asn126Lysfs*11 frameshift insertion or deletion MBD Mutation associated with disease Not Rett synd.-Severe congenital encephalopathy Male 3827
c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd.-neonatal encephalopathy Male 3869
c.1151_1188del38 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3870
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3871
c.810_813delAAAG p.Lys271fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3872
c.869dupA p.Ser291fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3912
c.1455_1456dupTA p.Ser486fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3914
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-unaffected family member Female 3982
c.[=/808delC] p.[=/Arg270fs] frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-unaffected family member Male 3988
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4070
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4071
c.484dupA p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 4084
c.495delC p.Ser166fs frameshift insertion or deletion inter-domain region Mutation associated with disease Not Known Female 4102
c.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4103
c.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4104
c.819delG p.Ser274fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4105
c.1128_1179del52 p.Lys377fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4106
c.1162_1163delCC p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4107
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4182
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-autism Female 5300
c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4219
c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4220
c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-unaffected family member Female 4221
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4224
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-male variant Male 4225
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4308
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4316
c.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4317
c.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 frameshift insertion or deletion TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 4318
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4343
c.1160_1166del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4344
c.326dupA p.Gln110fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 4347
c.420delG p.Tyr141fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 4362
c.566dupG p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4374
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 4376
c.1452_1453dup p.Val485fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4392
c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4411
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4412
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4413
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4414
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4415
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4416
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Male 4417
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4418
c.1170_1207del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4419
c.1214_1230del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4420
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4445
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 4446
c.56dupA p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4470
c.689_756del68 p.Pro230fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4478
c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4480
c.834_939del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4497
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4706
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4707
c.[1121_1311del191; 1326_1334del9] p.Glu374fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4708
c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4709
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4710
c.1160_1166del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4711
c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4712
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 4770
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4771
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4772
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
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
c.50dupA p.Asp17fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 4789
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-slight cognitive delay, no regression known, moderate mental retardation Female 4790
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-moderate mental retardation, does not meet any RTT criteria, significant behavioural problems Female 4791
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-progressive neurodevelopmental problems, seizures at 2y, no purposeful hand use, regression of motor skills Male 4792
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-deceleration of head growth at 2 month, loss of gross motor skills by 7 y, some stereotypic movements Male 4793
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4794
c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4805
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) p.Arg9? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-congenital Female 4827
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4850
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 4856
c.1164_1194del31 p.Pro391fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4857
c.1028_1158del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4890
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4915
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4922
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4931
c.318_321dup p.Leu108fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4932
c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd.- Male 4966
c.1233_1243del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd.-learning disability Female 4967
c.767_1175del409 p.Lys256Serfs*17 frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 5062
c.1101_1201del101 p.His367fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5063
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5064
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5065
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 5066
c.1180_1181insT p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5110
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 5121
MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd.-Rett-like Female 5122
c.[1123_1189del;1249_1270del] p.Ser375Argfs*12 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5134
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Rett-like Female 5135
c.[1089_1129del41;1156_1197del42] p.Lys364Glyfs*13 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5245
c.1168_1173del6 frameshift insertion or deletion C-term Unknown Not Rett synd.-mental retardation Female 6865
c.1163_1200del38 p.Pro388Glnfs*4 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 6754
c.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 6753
c.1157_1197del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6752
c.857_858dupAA p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6748
c.820_823dupAGTG p.Val275Glufs*57 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6747
c.806delG p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Rett syndrome-preserved speech Female 6744
c.573delC p.Ser194Alafs*16 frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-congenital onset Female 6738
c.[1104_1106del3(;) 1157_1197del41] p.[His372del(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6676
c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6675
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-X linked mental retardation Male 6673
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-not certain Female 6674
c.1085_1197del113 p.Pro362fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6671
c.1053_1156del104 p.Lys352fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6672
c.1105delC p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6670
c.1135_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 6669
c.1135_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 6668
c.753_754dup p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6667
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6664
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6663
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 6662
c.1164_1207del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6661
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6660
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6659
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6658
c.1157_1184del28 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6656
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6655
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6654
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6653
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6652
c.1157_1199del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6651
c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd.-mild mental retardation Female 6650
c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd.-mild mental retardation Female 6649
c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd.-unaffected family member Female 6648
c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd.-x-linked mental retardation Male 6647
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6646
c.1173_1207del35 p.Glu392* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6645
c.1324_1364del41 p.Thr442fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6644
c.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6643
c.226delG p.Glu76fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6641
c.1308_1309delTC p.Gln437fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6642
c.229_238del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6640
c.1147_1174del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 6639
c.506_507dupAG p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Not Rett synd.-inf enceph Male 6638
c.478dupA p.Thr160fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6637
c.390dupA p.Ala131fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6636
c.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6635
c.842_843insT p.Glu282fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6634
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6633
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6632
c.829delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6631
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6630
c.863_881del19 p.Val288fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6629
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion exon 1 Mutation associated with disease Not Rett synd.-mental retardation Female 6628
MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Rett syndrome-classical Female 6624
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6610
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6609
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6608
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.- Male 6607
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6606
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6605
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6604
c.[806delG(;) *8C>T] p.Gly269fs frameshift insertion or deletion, 3'UTR variation TRD-NLS, 3'UTR Mutation associated with disease Rett syndrome-Classical Female 446
c.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] frameshift insertion or deletion, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 4713
c.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] frameshift insertion or deletion, intronic variation, missense TRD, intronic, inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5238
c.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Rett syndrome-not certain Female 3875
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] frameshift insertion or deletion, missense C-term Mutation associated with disease Rett syndrome-classical Female 4902
c.1415_1416delAG p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd.-X-linked mental retardation Male 3019
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350
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
c.1043_1173del131insTG p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381
c.906_1138del233insAC p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 3620
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
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 4513
c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Rett syndrome-classical Female 4854
c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 4
c.1104_1106del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23
c.1156_1200del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286
c.1450_*12del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 406
c.1403_1408del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466
c.1163_1216del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 919
c.1123_1191del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 854
c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd.-Unaffected family member Female 837
c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd.-X-linked mental retardation Male 836
c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd.-Unaffected family member Female 835
c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd.-X-linked mental retardation Male 834
c.1161_1400del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd.-X-linked mental retardation Male 833
c.1164_1172del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144
c.1061_1156del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196
c.635_655del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Rett syndrome-Not certain Female 1248
c.1164_1208del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1361
c.1097_*13del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1367
c.807_*125del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722
c.1041_*29del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745
c.1157_1192del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751
c.1115_1201del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Sporadic mental retardation Male 1971
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1972
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1982
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1983
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Sporadic mental retardation Male 1984
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1985
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1986
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1987
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1988
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1989
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1990
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1991
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1992
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-X-linked mental retardation Male 1993
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1994
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1995
c.-168-?_*?dup p.Met1? In-frame insertion or deletion N-term Unknown Not Rett synd.-Unaffected family member Female 1996
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2005
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2006
c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049
c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2068
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
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163
c.1162_1179del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2183
c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 2191
c.1023_*14472del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2554
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2555
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd.-non-specific mental retardation Female 2556
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2557
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2558
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2559
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2560
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2561
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-specific mental retardation Female 2562
c.1069_1071delAGC p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2622
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3915
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
c.1164_1208del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Rett syndrome-congenital onset Female 2883
c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-atypical Female 2891
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 2912
c.1162_1191del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2951
c.1160_1180del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952
c.488_1189del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3261
c.822_1184del363 p.Val275_Ser396del in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3276
c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3298
c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3299
c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3300
c.1159_1458del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3312
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313
c.1162_1191del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3314
c.[641_653del13; 711_1309del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3518
c.1048_1095del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3521
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 3595
c.1151_1183del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3607
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3916
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3917
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-seizures at adolescence Female 3987
c.1163_1201del39 p.Pro388_Ser401delinsArg in-frame insertion or deletion C-term Unknown Not Rett synd.-seizures, no speech Female 4108
c.295_297delACC p.Thr99del in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4181
c.343_1282del p.Arg115_Glu394del in-frame insertion or deletion MBD, inter-domain, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 4306
c.900_908del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Rett syndrome-forme fruste Female 4386
c.1162_1179del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4714
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4806
c.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4807
c.1093_1095delGAG p.Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 4818
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4821
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-not certain Female 4822
c.1117_1203del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 4852
c.1161_1166del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Unknown Not Rett synd.-Angelman syndrome-like Female 4855
c.409_1158del p.Glu137_Leu386del in-frame insertion or deletion MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 4866
c.871_1044del p.Ile293_Ser350del in-frame insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-atypical Female 4879
c.1153_1188del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 4916
c.1155_1166del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 5059
c.1152_*29del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5071
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
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 5114
c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 5250
c.1152_1292del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6657
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd.-unaffected family member Female 6627
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
c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 6614
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 6345
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 6344
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd.-autism Female 6844
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6843
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6842
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6841
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Male 6840
c.[965_970del6; 1029dupG; 1138_1208del71] 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
c.[1161_1166del6; 1180_1205del26] 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
c.[881_1169del289; 1189_1196del8] p.Arg294_Asp398delinsHisLeuSerProArgAla In-frame insertion or deletion, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Unknown 1528
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] p.[Lys331del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2002
c.[1104_1106del3;1157_1197del41] p.[His372del;Leu386fs] in-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5244
c.[488_995del508;1061_1062delGC;1229_1240del12] p.Gly163Alafs*5 in-frame insertion or deletion, frameshift insertion or deletion inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5248
c.[1155_1172del18; 1373G>A] p.[Leu386_Pro391del; Arg458His] in-frame insertion or deletion, missense c-term Unknown Rett syndrome-not certain Female 3874
c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] inframe insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2545
c.616_1122del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 3749
c.378-17delT intronic intronic Polymorphism not causing disease Not Rett synd.-mental retardation Female 6852
c.378-17delT intronic intronic Polymorphism not causing disease Not Rett synd.-autism Female 6851
c.378-17delT intronic intronic Polymorphism not causing disease Not Rett synd.-autism Female 6850
c.378-65C>G intronic intronic Polymorphism not causing disease Not Rett synd.-mental retardation Female 6849
c.378-74C>T intronic intronic Polymorphism not causing disease Not Rett synd.-mental retardation Female 6848
c.377+22C>G intronic intronic Polymorphism not causing disease Not Rett synd.-mental retardation Female 6847
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3866
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20
c.378-2A>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103
c.378-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207
c.377+11G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208
c.378-61C>G intronic variation Intronic variation Intronic Unknown Not Rett synd.-Sporadic mental retardation Female 212
c.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 253
c.378-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 284
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Atypical Female 470
c.27-8C>G intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 479
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-X-linked mental retardation Male 1023
c.378-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1233
c.27-6C>G p.Arg9fs Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 1355
c.377+2T>G intronic variation Intronic variation Intronic Unknown Rett syndrome-Not certain Unknown 1356
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Unknown 1372
c.377+6_377+9del intronic variation Intronic variation Intronic Unknown Not Rett synd.-autism only Female 1382
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1383
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1384
c.378-241C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-autism only Male 1562
c.377+95G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-autism only Male 1563
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-autism only Male 1575
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-autism only Male 1583
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1584
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1585
c.377+95G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1586
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1596
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Unaffected family member Unknown 1597
c.26+2T>A intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1629
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1638
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1646
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1647
c.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Not certain Male 1817
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Not certain Male 1818
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829
c.27-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1975
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1976
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1977
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027
c.[377+22C>G; 378-74C>T] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2029
c.[377+22C>G(;)378-74C>T] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2045
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051
c.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056
c.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063
c.27-9A>G intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101
c.378-3C>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Phobia Female 2384
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Alcoholism Male 2385
c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Alcoholism Male 2386
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Alcoholism Male 2387
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2517
c.378-17delT intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2518
c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2630
c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2631
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2642
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2649
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2650
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2651
c.27-55G>A intronic variation intronic variation intronic Unknown Not Rett synd.-Autism Unknown 2661
c.377+18C>G intronic variation intronic variation intronic Unknown Not Rett synd.-Autism Unknown 2662
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-Autism Unknown 2663
c.377+24C>A intronic variation intronic variation intronic Unknown Not Rett synd.-mental retardation Male 2745
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-mental retardation Male 2764
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-mental retardation Male 2765
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-mental retardation Male 2766
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-specfic mental retardation Female 2780
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800
c.27-2A>G intronic variation intronic variation N-term Mutation associated with disease Rett syndrome-atypical Female 2974
c.378-2A>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-not certain Female 3594
MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 3762
c.377+1G>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3763
c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3764
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-classical Female 3799
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3918
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3921
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3922
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3923
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Male 3924
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Male 3925
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3926
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3927
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 3928
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3931
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3932
c.377+24C>A intronic variation intronic variation intronic Unknown Not Rett synd.-unaffected family member Female 3935
c.377+24C>A intronic variation intronic variation intronic Unknown Not Rett synd.-unaffected family member Female 3936
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3976
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3990
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3991
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3992
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3993
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3994
c.377+266T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4199
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4337
c.377+1G>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Classical Female 4348
c.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4349
c.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4350
c.378-14G>A intronic variation intronic variation intronic Unknown Rett syndrome-Classical Female 4351
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4352
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Female 4353
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4354
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4355
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4356
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4357
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4358
c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Female 4388
c.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Female 4390
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5082
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5083
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5084
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5085
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5086
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5087
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5088
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5089
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5090
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5091
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5092
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5093
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5094
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5095
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5096
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5097
c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-autism Male 5098
c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5141
c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5142
c.377+28A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5143
c.377+30G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5144
c.378-70C>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5145
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5146
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5147
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5148
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5149
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5150
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5151
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5152
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5153
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5154
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5155
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5156
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5157
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5158
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5159
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5160
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5161
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5162
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5163
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5164
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5165
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5166
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5167
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5168
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5169
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5170
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5171
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5172
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5173
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5174
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5175
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5176
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5177
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5178
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5179
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5180
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5181
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5182
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5183
c.378-17delT intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd.-normal control Unknown 5184
c.378-2A>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6603
c.27-8C>G intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 6353
c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6352
c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6351
c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6350
c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Not Rett synd.-Sporadic mental retardation Male 1979
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
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.-Unaffected family member Female 2053
c.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Rett syndrome-Atypical Female 4336
c.[378-109A>G;518C>G] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Not Rett synd.-unaffected family member Female 5239
c.[26+22C>G(;) 808C>T] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823
c.[26+22C>G(;) 808C>T] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2831
c.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 4334
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759
c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2760
c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2761
c.-168-?_*?del p.Met1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2762
c.[27-?_377+?del(;)1085_1216del132] p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] large deletion, inframe insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 3854
c.1-?dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3253
c.1-?_26+?dup p.Met1? large duplication N-term Unknown Rett syndrome-not certain Female 3254
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26
c.289G>T p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28
c.398G>A p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 46
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 58
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 59
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 60
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 61
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 62
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 63
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 64
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 65
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 66
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 67
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 68
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 69
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 70
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 72
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 106
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 108
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 109
c.904C>G p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 133
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 136
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 139
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 141
c.905C>A p.Pro302His Missense TRD Unknown Rett syndrome-Not certain Unknown 144
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 145
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 146
c.752C>T p.Pro251Leu Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 149
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 151
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 152
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 153
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154
c.372G>C p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 155
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 156
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 157
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 158
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 159
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 160
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 161
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 162
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 163
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 164
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 165
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 166
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 167
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 168
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 169
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 170
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 171
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 172
c.302C>G p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 190
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 192
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 193
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 217
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Female 218
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Female 219
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 220
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 221
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 222
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 223
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 224
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 225
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 226
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 227
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 228
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 229
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 230
c.481G>T p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 231
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 232
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 233
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 234
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 235
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 263
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 264
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 265
c.467A>G p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 266
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 267
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 268
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290
c.380C>T p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 295
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 296
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 297
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 298
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 299
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 302
c.904C>G p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324
c.398G>T p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 335
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 354
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 359
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 361
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 362
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 363
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 368
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 370
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 373
c.[590C>T(;)674C>T] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Atypical Female 374
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 375
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 376
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 379
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 380
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 383
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385
c.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 394
c.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 395
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Classical Female 398
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 399
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 402
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 404
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 405
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 413
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 419
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 422
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 426
c.398G>A p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 434
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 437
c.[473C>T];[1189G>A] p.[Thr158Met];[Glu397Lys] Missense MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 438
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 439
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 447
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 453
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 461
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 463
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 465
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 467
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Not Known Female 476
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-Unaffected family member Female 953
c.1038C>G p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 939
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 938
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 934
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 928
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 924
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 913
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 911
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 912
c.905C>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 910
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 890
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 888
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 889
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 886
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 887
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 884
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 885
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 880
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Unknown 881
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 868
c.463T>A p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 867
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866
c.291C>A p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 865
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 864
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 863
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 862
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 861
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 860
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 859
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 858
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 857
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 856
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 844
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 841
c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 840
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 839
c.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 1011
c.410A>G p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd.-X-linked mental retardation Male 1012
c.499C>T p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd.-X-linked mental retardation Male 1013
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 1014
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 1015
c.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd.-X-linked mental retardation Male 1016
c.1358G>A p.Arg453Gln Missense C-term Unknown Not Rett synd.-X-linked mental retardation Male 1017
c.850A>G p.Lys284Glu Missense TRD Unknown Not Rett synd.-X-linked mental retardation Male 1018
c.1160C>T p.Pro387Leu Missense C-term Unknown Not Rett synd.-X-linked mental retardation Male 1022
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031
c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1033
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1034
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1035
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1036
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1037
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1038
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1039
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1040
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1041
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1042
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1043
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1044
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1045
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1046
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1047
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1048
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1049
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1050
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1051
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1052
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1053
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1126
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129
c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136
c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137
c.257C>G p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1138
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139
c.859G>C p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140
c.871T>G p.Ser291Ala Missense TRD Unknown Rett syndrome-Not certain Female 1141
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142
c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Non-progressive encephalopathy of neonatal onset Male 1150
c.302C>G p.Pro101Arg Missense MBD Unknown Not Rett synd.-Angelman syndrome Female 1152
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1163
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1164
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1165
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1171
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1177
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1529
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1197
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1212
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1214
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Classical Female 1215
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1217
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219
c.289G>T p.Asp97Tyr Missense MBD Unknown Rett syndrome-Classical Female 1221
c.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1222
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1225
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1226
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1231
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1232
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242
c.468C>G p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1243
c.468C>G p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1244
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1245
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1246
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1249
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1250
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1251
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-Unaffected family member Female 1265
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 1266
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-Unaffected family member Female 1267
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation, manic-depressive illness Male 1268
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation, manic-depressive illness Male 1269
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation Male 1270
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-Unaffected family member Female 1271
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-X-linked mental retardation, manic-depressive illness Male 1272
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1273
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1274
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1275
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1276
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1277
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1278
c.331A>G p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1279
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1280
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1281
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1282
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1283
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1284
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1285
c.403A>G p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1286
c.403A>G p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1287
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1288
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1289
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1290
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1291
c.467A>G p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1292
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1293
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1294
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1295
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1296
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1297
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1298
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1299
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1300
c.629A>T p.Lys210Ile Missense TRD Unknown Rett syndrome-Not certain Unknown 1301
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1302
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1303
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1304
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1305
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1306
c.517C>G p.Pro173Ala Missense Inter-domain region Unknown Rett syndrome-Not certain Unknown 1370
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 1371
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1387
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 1388
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1389
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1390
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1391
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1392
c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1393
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1394
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1397
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1398
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1399
c.898G>A p.Val300Ile Missense TRD Unknown Rett syndrome-Classical Female 1400
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402
c.964C>G p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430
c.301C>T p.Pro101Ser Missense MBD Unknown Rett syndrome-Classical Female 1436
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1438
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1439
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1440
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1441
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1442
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1443
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1444
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1460
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1462
c.472A>G p.Thr158Ala Missense MBD Unknown Rett syndrome-Preserved speech Female 1463
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1464
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1465
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1466
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-Unaffected family member Female 1479
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1480
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1481
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1499
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1500
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1501
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Non Rett syndrome control Unknown 1502
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1503
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1504
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1505
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1506
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1507
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1508
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1509
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520
c.468C>G p.Asp156Glu Missense MBD Unknown Rett syndrome-classical Unknown 1522
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1523
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1530
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1531
c.1030C>T p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532
c.1030C>T p.Arg344Trp Missense C-term Unknown Not Rett synd.-Unaffected family member Female 1533
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-not certain Male 1534
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1535
c.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536
c.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1537
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1539
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1547
c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1548
c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1549
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1550
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1551
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1552
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Rett synd.-angelman syndrome Female 1555
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-angelman syndrome Female 1556
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Female 1559
c.542C>T p.Ala181Val Missense Inter-domain region Unknown Not Rett synd.-autism only Male 1564
c.542C>T p.Ala181Val Missense Inter-domain region Unknown Not Rett synd.-Unaffected family member Female 1565
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Male 1570
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Female 1571
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Female 1573
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-autism only Male 1574
c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Male 1578
c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1579
c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1580
c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Female 1581
c.1205C>T p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1582
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-Unaffected family member Female 1587
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1589
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 3864
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1599
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1600
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612
c.527C>G p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Male 1613
c.527C>G p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1614
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 3865
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1617
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1621
c.469T>A p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 1622
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1630
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1631
c.683C>G p.Thr228Ser Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1632
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1634
c.905C>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Not certain Female 1636
c.1441G>A p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 1637
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1645
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1648
c.1340C>T p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1651
c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1652
c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1653
c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1654
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655
c.674C>T p.Pro225Leu Missense TRD Unknown Rett syndrome-Male variant Male 1659
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1661
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1663
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1665
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1666
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 1669
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Not Rett synd.-Unaffected family member Female 1672
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 1673
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1685
c.905C>T p.Pro302Leu Missense TRD Unknown Not Known Female 1686
c.301C>T p.Pro101Ser Missense MBD Unknown Not Known Female 1687
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706
c.953A>C p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1715
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1723
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727
c.401C>T p.Ser134Phe Missense MBD Unknown Not Known Female 1740
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1746
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1749
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1779
c.468C>G p.Asp156Glu Missense MBD Unknown Not Known Female 1788
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793
c.397C>G p.Arg133Gly Missense MBD Unknown Not Known Female 1798
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1802
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Not Known Female 1805
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816
c.301C>T p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1836
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1847
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1850
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1851
c.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1852
c.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1853
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1855
c.932C>T p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1874
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883
c.341G>C p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1886
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1887
c.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903
c.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 1904
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1908
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1927
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-classical Female 1929
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1931
c.299T>G p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1932
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1933
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1935
c.472A>G p.Thr158Ala Missense MBD Unknown Rett syndrome-classical Female 1939
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1941
c.482G>T p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 1942
c.953A>C p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-atypical Female 1946
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1947
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1948
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1950
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-Developmental receptive language disorder, childhood-onset schizophrenia Male 1966
c.419C>T p.Ala140Val Missense MBD Unknown Not Rett synd.-Unaffected family member Female 1967
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1973
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1974
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd.-Sporadic mental retardation Female 1998
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2001
c.1061G>T p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2003
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013
c.910A>G p.Lys304Glu Missense TRD Unknown Not Known Female 2015
c.1324A>G p.Thr442Ala Missense C-term Unknown Not Known Female 2016
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2019
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023
c.[397C>T(;)1061G>T] p.[Arg133Cys(;)Arg354Leu] Missense MBD, C-term Mutation associated with disease Not Known Female 2025
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2046
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054
c.479C>G p.Thr160Ser Missense MBD Unknown Not Known Female 2058
c.362A>G p.Asp121Gly Missense MBD Unknown Not Known Female 2065
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2066
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067
c.464T>G p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069
c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2123
c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2124
c.1229G>A p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126
c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130
c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2134
c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2135
c.386G>T p.Gly129Val Missense MBD Unknown Not Known Female 2137
c.277C>T p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 2138
c.215C>T p.Pro72Leu Missense N-term Unknown Not Known Male 2139
c.155A>G p.His52Arg Missense N-term Unknown Not Rett synd.-not certain Female 2141
c.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143
c.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2144
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Known Female 2145
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Known Female 2146
c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147
c.1234G>A p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2148
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-not certain Male 2153
c.1081C>G p.Pro361Ala Missense C-term Unknown Not Known Female 2154
c.1081C>G p.Pro361Ala Missense C-term Unknown Not Rett synd.-Unaffected family member Female 2155
c.1081C>G p.Pro361Ala Missense C-term Unknown Not Known Male 2156
c.1081C>G p.Pro361Ala Missense C-term Unknown Not Rett synd.-Unaffected family member Female 2157
c.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-ADHD Male 2165
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-Non Rett syndrome control Male 2166
c.302C>A p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2167
c.302C>T p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2168
c.301C>T p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2170
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2171
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2172
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2173
c.905C>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2175
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2176
c.964C>G p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178
c.316C>G p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194
c.316C>G p.Arg106Gly Missense MBD Unknown Not Rett synd.-Unaffected family member Female 2195
c.316C>G p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205
c.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Missense MBD, TRD, C-term Mutation associated with disease Rett syndrome-Not certain Female 2206
c.1061G>A p.Arg354His Missense C-term Unknown Not Rett synd.-Unaffected family member Female 2207
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd.-Unaffected family member Female 2214
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224
c.398G>A p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2331
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2332
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2333
c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2334
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2339
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2340
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2341
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2342
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2343
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 2344
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2345
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2346
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2347
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2348
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2349
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2350
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2351
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2352
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2353
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2354
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2355
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2356
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2357
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2358
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2359
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2360
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2361
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2362
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2363
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2364
c.587C>G p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Schizophrenia Female 2368
c.1127C>G p.Pro376Arg Missense C-term Unknown Not Rett synd.-autism only Female 2369
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Female 2390
c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2391
c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2392
c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2393
c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 2394
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2405
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2407
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Classical Female 2408
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2415
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2423
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2425
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2428
c.674C>T p.Pro225Leu Missense TRD Unknown Rett syndrome-Classical Female 2429
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2440
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2442
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2444
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2448
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2450
c.380C>T p.Pro127Leu Missense MBD Unknown Rett syndrome-Classical Female 2457
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2461
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2464
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2466
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2468
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2472
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475
c.1163C>T p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 2476
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2478
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2480
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2483
c.317G>T p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2486
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Not Known Female 2489
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd.-Angelman syndrome Female 2491
c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd.-Angelman syndrome Male 2492
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2493
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Angelman syndrome Female 2495
c.422A>G p.Tyr141Cys Missense MBD Unknown Rett syndrome-Atypical Female 2519
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2522
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Female 2523
c.964C>T p.Pro322Ser Missense C-term Unknown Not Rett synd.-Sporadic mental retardation Male 2529
c.964C>T p.Pro322Ser Missense C-term Unknown Not Rett synd.-Borderline low IQ Female 2530
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 2540
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2548
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2549
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd.-non-specific mental retardation Female 2563
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2565
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2566
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2567
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2568
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2569
c.323T>A p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 2570
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2571
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2572
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2573
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2574
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2575
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2576
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2577
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-Classical Female 2578
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 2581
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2582
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2583
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2584
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2585
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2586
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2587
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2588
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2589
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2590
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2591
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2592
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-Classical Female 2597
c.904C>T p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 2615
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2616
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2617
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2618
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2619
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2620
c.1162C>T p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 2626
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 2632
c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2633
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2634
c.289G>T p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2652
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2656
c.1430G>C p.Ser477Thr missense C-term Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2658
c.679C>G p.Gln227Glu missense TRD Unknown Not Rett synd.-sporadic mental retardation Female 2660
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-Autism Male 2665
c.617G>C p.Gly206Ala missense inter-domain region Unknown Not Rett synd.-Autism Male 2666
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-Autism Male 2667
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd.-Autism Male 2671
c.245A>G p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Male 2673
c.514C>T p.Pro172Ser missense inter-domain region Unknown Not Rett synd.-mental retardation and autism combined Male 2746
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2747
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2748
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2749
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2750
c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Male 2752
c.1214C>T p.Pro405Leu missense C-term Unknown Not Rett synd.-mental retardation and autism combined Male 2763
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2767
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Male 2768
c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Female 2771
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-non-specfic mental retardation Female 2774
c.1315G>A p.Ala439Thr missense C-term Unknown Not Rett synd.-mental retardation Female 2777
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 2778
c.469T>A p.Phe157Ile missense MBD Unknown Not Rett synd.-progressive encephalopathy of neonatal onset Male 2795
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-progressive encephalopathy of neonatal onset Male 2796
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2807
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2808
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2809
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2810
c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811
c.482G>A p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816
c.932C>T p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2852
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2853
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2854
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2855
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856
c.1162C>T p.Pro388Ser missense C-term Unknown Rett syndrome-congenital onset Female 2857
c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858
c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Rett syndrome-not certain Female 2865
c.28G>C p.Glu10Gln missense N-term Unknown Rett syndrome-forme fruste Female 2866
c.383A>C p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 2867
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2868
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2869
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2870
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2871
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2872
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2873
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2874
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 2875
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2876
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2877
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2878
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2893
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2894
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2902
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2903
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2931
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2932
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2933
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 2934
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2935
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2936
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2937
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2945
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2946
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2947
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2954
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2955
c.422A>G p.Tyr141Cys missense MBD Unknown Rett syndrome-atypical Female 2956
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 2957
c.452A>G p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2958
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2959
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2960
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2961
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2962
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2963
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.- Female 2976
c.909C>G p.Ile303Met missense TRD Unknown Not Rett synd.- Female 2977
c.401C>T p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 2986
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2987
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2988
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2989
c.836C>T p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2990
c.836C>T p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2991
c.836C>T p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2992
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2996
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2997
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2998
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2999
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3000
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3001
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3002
c.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018
c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Male 3025
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Male 3028
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 3029
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 3030
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 3031
c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Male 3032
c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Male 3033
c.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Male 3034
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3036
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3037
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3038
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3039
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3068
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3069
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3070
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3071
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3072
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3073
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3074
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3075
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3076
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3079
c.904C>G p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 3082
c.291C>A p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094
c.316C>G p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112
c.422A>G p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3113
c.422A>G p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3114
c.422A>G p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3115
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3118
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3119
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3120
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3121
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3122
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3123
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3124
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3125
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3126
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3127
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3128
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3129
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3130
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3131
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3132
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3133
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3134
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3135
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3136
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3137
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3138
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3139
c.904C>G p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140
c.908T>G p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141
c.910A>G p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158
c.917G>A p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3159
c.917G>A p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3160
c.917G>A p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3161
c.917G>A p.Arg306His missense TRD Mutation associated with disease Rett syndrome-not certain Female 3162
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165
c.982C>G p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166
c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3361
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3362
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3366
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3374
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3375
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3376
c.905C>T p.Pro302Leu missense TRD Unknown Rett syndrome-classical Female 3381
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3382
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3384
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3385
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3386
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3387
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3388
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3389
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3390
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3391
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3392
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3393
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3394
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3395
c.372G>C p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3396
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 3397
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3398
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3399
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3418
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3419
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3420
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3421
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3422
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3423
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3424
c.316C>G p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3425
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3426
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3427
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3428
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3429
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3430
c.397C>G p.Arg133Gly missense MBD Unknown Rett syndrome-not certain Female 3431
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3432
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3433
c.452A>G p.Asp151Gly missense MBD Unknown Rett syndrome-not certain Female 3434
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3435
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3436
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3437
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3438
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3439
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3440
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3441
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3442
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3443
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3444
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3445
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3446
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3447
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3448
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3449
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3450
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3451
c.905C>T p.Pro302Leu missense TRD Unknown Rett syndrome-not certain Female 3452
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3453
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3454
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3455
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3456
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3457
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3458
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3459
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3460
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3461
c.310T>C p.Trp104Arg missense MBD Unknown Rett syndrome-not certain Female 3514
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3515
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516
c.1075T>C p.Ser359Pro missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3517
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3523
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3524
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3525
c.364G>A p.Val122Met missense MBD Unknown Rett syndrome-not certain Female 3526
c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] missense MBD Unknown Rett syndrome-not certain Female 3527
c.386G>T p.Gly129Val missense MBD Unknown Rett syndrome-not certain Female 3528
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3529
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3530
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3531
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3532
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3533
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3534
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3535
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3536
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3537
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3538
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3540
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3541
c.[473C>T];[473C>T] p.[Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-not certain Female 3542
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3543
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3544
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3545
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3546
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3547
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3548
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3549
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3550
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3551
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3552
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3553
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3554
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3555
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3556
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3557
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3558
c.913A>G p.Lys305Glu missense TRD Unknown Rett syndrome-not certain Female 3559
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3560
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3561
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3562
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3563
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3564
c.1015T>C p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 3565
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566
c.392C>A p.Ala131Asp missense MBD Unknown Rett syndrome-classical Female 3623
c.401C>T p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 3624
c.467A>C p.Asp156Ala missense MBD Unknown Rett syndrome-classical Female 3625
c.904C>A p.Pro302Thr missense TRD Unknown Rett syndrome-classical Female 3626
c.914A>G p.Lys305Arg missense TRD Unknown Rett syndrome-classical Female 3627
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3628
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3629
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3630
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3631
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3632
c.372G>T p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3633
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3634
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3635
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3636
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3637
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3638
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3639
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3640
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3641
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3642
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3643
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3644
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 3645
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3646
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3647
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3648
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3649
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3650
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3651
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 3652
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 3653
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3654
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3655
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3656
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3657
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3658
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3659
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3660
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3661
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3662
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3663
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3664
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3665
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3666
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3667
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3668
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3669
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3670
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3671
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3672
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3673
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3674
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3675
c.905C>A p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3676
c.905C>A p.Pro302His missense TRD Unknown Rett syndrome-classical Female 3677
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3678
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3679
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3680
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3681
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3682
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3683
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3684
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 3685
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3788
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3789
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3790
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3792
c.[397C>T; 602C>T] p.[Arg133Cys; Ala201Val] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-male variant Male 3794
c.358T>G p.Tyr120Asp missense MBD Unknown Rett syndrome-not certain Female 3796
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3797
c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3801
c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3802
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3803
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 3804
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3806
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 3807
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-autism Male 3808
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-epileptic encephalopathy Male 3810
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-late onset cognitive regression, parkinsonism, neuropsychiatric symptoms Female 5302
c.1214C>T p.Pro405Leu missense C-term Unknown Not Rett synd.-Mental retardation Male 3851
c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd.-Pervasive developmental disorder-not otherwise specified Female 3856
c.454C>G p.Pro152Ala missense MBD Mutation associated with disease Not Rett synd.-Not specified Male 3857
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-not certain Female 3867
MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-not certain Female 3868
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3873
c.1373G>A p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3876
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-mental retardation Male 3909
c.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] missense MBD, TRD Mutation associated with disease Rett syndrome-classical Female 3910
c.471C>G p.Phe157Leu missense MBD Unknown Rett syndrome-classical Female 3913
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3919
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3929
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3930
c.1214C>T p.Pro405Leu missense C-term Unknown Not Rett synd.-borderline intelligence Female 3933
c.1214C>T p.Pro405Leu missense C-term Unknown Not Rett synd.-borderline intelligence and epilepsy Female 3934
c.514C>T p.Pro172Ser missense inter-domain region Unknown Not Rett synd.-unaffected family member Female 3937
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3938
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3939
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3941
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3942
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3943
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3944
c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3945
c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3946
c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3947
c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3948
c.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3949
c.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3950
c.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3951
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3952
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3953
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3954
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3955
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3956
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3957
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Rett syndrome-NK Female 3958
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3959
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3960
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3961
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3962
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3963
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3964
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3965
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3966
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3967
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3968
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3969
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3970
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3971
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3972
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3973
c.695G>C p.Gly232Ala missense TRD Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3974
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3975
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3977
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Rett synd.-unaffected family member Female 3980
c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3981
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3989
c.365T>C p.Val122Ala missense MBD Unknown Not Rett synd.- Male 4036
c.365T>C p.Val122Ala missense MBD Unknown Not Rett synd.- Female 4037
c.365T>C p.Val122Ala missense MBD Unknown Not Rett synd.- Female 4038
c.439G>A p.Asp147Asn missense MBD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4044
c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4045
c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4046
c.1451G>C p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4047
c.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4050
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4051
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4052
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4053
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4054
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4055
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Female 4056
c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4057
c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4058
c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4059
c.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4060
c.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4061
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4062
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4063
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4064
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4065
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4066
c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4072
c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4073
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4074
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4075
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4076
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4077
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4078
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4088
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4089
c.1138G>A p.Val380Met missense C-term Unknown Not Rett synd.-mental retardation Female 4092
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-mental retardation Female 4093
c.377A>G p.Asn126Ser missense MBD Unknown Not Rett synd.-microcephaly, neonatal seizures Female 4094
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-classical Female 4095
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 4096
c.482G>T p.Gly161Val missense MBD Unknown Rett syndrome-classical Female 4097
c.1133C>G p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 4099
c.1163C>T p.Pro388Leu missense C-term Unknown Rett syndrome-classical Female 4100
c.1163C>T p.Pro388Leu missense C-term Unknown Not Rett synd.-unaffected family member Female 4101
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4109
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4110
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4111
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4112
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4113
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4114
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4115
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4116
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4117
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4118
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4119
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4120
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4121
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4122
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4123
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4124
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4125
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4126
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4127
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4128
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4135
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4136
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4137
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4138
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4139
c.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Female 4179
c.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4180
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Rett synd.-autism - pervasive developmental disorder Female 5298
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 5299
c.[=/316C>T] p.[=/Arg106Trp] missense MBD Mutation associated with disease Rett syndrome-male variant Male 4218
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-male variant Male 4222
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4227
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4228
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4229
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4231
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4232
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4233
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4234
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4235
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4236
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4237
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4238
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4239
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4240
c.[473C>T(;)590C>T] p.[Thr158Met(;)Thr197Met] missense MBD, inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4241
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-Classical Female 4244
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-Classical Female 4245
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4246
c.400T>C p.Ser134Pro missense MBD Unknown Rett syndrome-Classical Female 4247
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4248
c.[398G>T(;)602C>T] p.[Arg133Leu(;)Ala201Val] missense MBD, inter-domain region Unknown Rett syndrome-Classical Female 4250
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4275
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4276
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Atypical Female 4277
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4278
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4279
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4280
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4281
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4282
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4283
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 4284
c.[590C>T(;)916C>T] p.[Thr197Met(;)Arg306Cys] missense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 4285
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-Classical Female 4287
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4301
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4302
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4303
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4304
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4310
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4312
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4314
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4315
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 4319
c.289G>T p.Asp97Tyr missense MBD Unknown Rett syndrome-Classical Female 4346
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4359
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4360
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4361
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 4363
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4364
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4365
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4366
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4367
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4368
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4369
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 4370
c.153C>G p.His51Gln missense N-term Unknown Not Rett synd.-unaffected family member Female 4393
c.413T>C p.Leu138Ser missense MBD Unknown Rett syndrome-classical Female 4394
c.308G>A p.Gly103Asp missense MBD Unknown Rett syndrome-atypical Female 4395
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-x-linked mental retardation Male 4398
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-x-linked mental retardation Male 4399
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-x-linked mental retardation Male 4400
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-x-linked mental retardation Male 4401
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-unaffected family member Female 4402
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-unaffected family member Female 4403
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-unaffected family member Female 4404
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-unaffected family member Female 4405
c.224C>T p. Pro75Leu missense N-term Unknown Not Known Female 4425
c.302C>G p.Pro101Arg missense MBD Unknown Not Known Female 4426
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4427
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4428
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4429
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4430
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4431
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4432
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4433
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4434
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4435
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4436
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Not Known Female 4437
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4438
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4439
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4440
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Known Female 4441
c.464T>G p.Phe155Cys missense MBD Unknown Not Known Female 4442
c.468C>G p.Asp156Glu missense MBD Unknown Not Known Female 4443
c.468C>G p.Asp156Glu missense MBD Unknown Not Known Female 4444
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4447
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4448
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4449
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4450
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4451
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4452
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Unknown 4453
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4454
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4455
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4456
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Not Known Female 4457
c.499C>T p.Arg167Trp missense inter-domain region Unknown Not Known Female 4458
c.499C>T p.Arg167Trp missense inter-domain region Unknown Not Rett synd.-unaffected family member Female 4459
c.499C>T p.Arg167Trp missense inter-domain region Unknown Not Known Female 4460
c.518C>G p.Pro173Arg missense inter-domain region Unknown Not Known Female 4466
c.518C>G p.Pro173Arg missense inter-domain region Unknown Not Rett synd.-unaffected family member Female 4467
c.518C>G p.Pro173Arg missense inter-domain region Unknown Not Known Female 4468
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4471
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4472
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4473
c.673C>A p.Pro225Thr missense TRD Mutation associated with disease Not Known Female 4474
c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Not Known Female 4476
c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Not Known Male 4477
c.857A>G p.Lys286Arg missense TRD Unknown Not Known Female 4498
c.911A>G p.Lys304Arg missense TRD Unknown Not Known Female 4506
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4507
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4508
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4509
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4510
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 4511
c.917G>A p.Arg306His missense TRD Mutation associated with disease Not Known Female 4512
c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Rett syndrome-male variant Male 4588
c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4589
c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4590
c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4591
c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4592
c.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Rett syndrome-congenital Female 4593
c.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4594
c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd.-schizophrenia Female 4604
c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4605
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-autism spectrum disorder Unknown 4610
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-schizophrenia Unknown 4611
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-schizophrenia Unknown 4612
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 4613
c.985G>A p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd.-schizophrenia Male 4615
c.985G>A p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4616
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-autism spectrum disorder Female 4618
c.596C>A p.Pro199His missense inter-domain region Unknown Not Rett synd.-schizophrenia Female 4620
c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd.-schizophrenia Unknown 4621
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-unaffected family member Female 4675
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4728
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4729
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 4730
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 4731
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4732
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4733
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4734
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4735
c.401C>T p.Ser134Phe missense MBD Unknown Rett syndrome-not certain Female 4737
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4738
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 4739
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4740
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4741
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4742
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4743
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4744
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4745
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 4746
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4747
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-psychomotor delay and absence of speech Male 4748
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4751
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4752
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4757
c.153C>G p.His51Gln missense N-term Unknown Not Rett synd.-unaffected family member Female 4788
c.479C>G p.Thr160Ser missense MBD Unknown Not Rett synd.-autism Male 4796
c.1065C>A p.Ser355Arg missense C-term Unknown Rett syndrome-classical Female 4802
c.1030C>G p.Arg344Gly missense C-term Unknown Rett syndrome-classical Female 4803
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4808
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 4809
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4810
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 4812
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4816
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 4817
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-not certain Female 4819
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4828
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4829
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4830
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4831
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4832
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4833
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4834
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4835
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4836
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4837
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4838
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4839
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4840
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4841
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 4848
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 4849
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 4858
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 4859
c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 4860
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-atypical Female 4861
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 4865
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 4867
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4868
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4869
c.898G>A p.Val300Ile missense TRD Unknown Not Rett synd.-autism Female 4880
c.898G>A p.Val300Ile missense TRD Unknown Not Rett synd.-unaffected family member Female 4881
c.909C>G p.Ile303Met missense TRD Unknown Not Rett synd.-nonspecific mental retardation Female 4882
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4883
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4884
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4885
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 4886
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 4887
c.932C>T p.Thr311Met missense C-term Unknown Not Rett synd.-nonspecific mental retardation Female 4888
c.932C>T p.Thr311Met missense C-term Unknown Not Rett synd.-unaffected family member Female 4889
c.1030C>T p.Arg344Trp missense C-term Unknown Rett syndrome-atypical Female 4891
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-nonspecific mental retardation Female 4892
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4893
c.1151C>T p.Pro384Leu missense C-term Unknown Not Rett synd.-nonspecific mental retardation Female 4894
c.1151C>T p.Pro384Leu missense C-term Unknown Not Rett synd.- Female 4895
c.1151C>T p.Pro384Leu missense C-term Unknown Not Rett synd.-nonspecific mental retardation Female 4896
c.1327G>A p.Ala443Thr missense C-term Unknown Not Rett synd.-nonspecific mental retardation Male 4897
c.1327G>A p.Ala443Thr missense C-term Unknown Not Rett synd.-unaffected family member Female 4898
c.1441G>A p.Val481Met missense C-term Unknown Rett syndrome-classical Female 4899
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-not certain Female 4903
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4904
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-not certain Female 4905
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4906
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4907
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4908
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4909
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4910
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4917
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4918
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 4919
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 4920
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 4923
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4924
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 5045
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 5046
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 5047
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 5048
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 5051
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 5052
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 5053
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 5054
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 5067
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5068
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 5069
c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd.-autism Male 5076
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-autism Male 5077
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 5078
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-depressive disease Male 5079
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-atypical Female 5112
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 5123
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Rett synd.-Rett-like Female 5124
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 5125
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-intellectual disability Female 5132
c.431A>G p.Lys144Arg missense MBD Polymorphism not causing disease Not Rett synd.-normal control Female 5185
c.633G>C p.Arg211Ser missense TRD Polymorphism not causing disease Not Rett synd.-normal control Unknown 5189
c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Not Rett synd.-normal control Unknown 5190
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5211
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5212
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5213
c.1196C>T p.Pro399Leu missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5214
c.1234G>A p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5219
c.1234G>A p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5220
c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5224
c.1433G>A p.Arg478Gln missense C-term Polymorphism not causing disease Not Rett synd.-normal control Female 5225
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 5234
c.832G>A p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 5236
c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 5237
c.[905C>T;917G>A] p.[Pro302Leu;Arg306His] missense TRD Mutation associated with disease Rett syndrome-not certain Female 5240
c.925C>T p.Arg309Trp missense TRD Unknown Rett syndrome-atypical Female 5325
c.605G>A p.Ala202His Missense Inter-domain Unknown Rett syndrome-atypical Female 5330
c.1449G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6872
c.1330G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6871
c.1330G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6870
c.1330G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6869
c.1189G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6867
c.1189G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6866
c.1133C>G Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6864
c.683C>G Missense TRD Polymorphism not causing disease Rett syndrome-classical Female 6857
c.683C>G Missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Female 6856
c.587C>G Missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Female 6855
c.916C>T missense TRD Mutation associated with disease Rett syndrome-atypical Female 6876
c.880C>T p.Arg294* Missense TRD Mutation associated with disease Not Known Female 6761
c.392C>A p.Ala131Asp missense MBD Mutation associated with disease Rett syndrome-classical Female 6760
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6759
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-atypical Female 6751
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6750
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Known Female 6749
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Not Known Female 6739
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6736
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6735
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6733
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-congenital onset Female 6734
c.468C>G p.Asp156Glu missense MBD Mutation associated with disease Rett syndrome-classical Female 6732
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6731
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6730
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 6729
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 6727
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6728
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6625
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6623
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Not Rett synd.-mental retardation Female 6622
c.377A>T p.Asn126Ile missense MBD Unknown Not Rett synd.-infant-onset encephalopathy Male 6620
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-infant-onset encephalopathy Male 6619
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-preserved speech Female 6618
c.914A>C p.Lys305Thr missense TRD Unknown Rett syndrome-classical Female 6617
c.961A>G p.Lys321Glu missense C-term Unknown Rett syndrome-classical Female 6616
c.1141C>T p.Pro381Ser missense C-term Unknown Rett syndrome-preserved speech Female 6615
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd.-mental retardation Female 6601
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd.-mental retardation Male 6600
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 6599
c.302C>G p.Pro101Arg missense MBD Unknown Rett syndrome-classical Female 6598
c.302C>G p.Pro101Arg missense MBD Unknown Rett syndrome-classical Female 6597
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6596
c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6595
c.401C>T p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 6594
c.499C>T p.Arg167Trp missense Inter-domain Unknown Not Rett synd.-x-linked mental retardation Male 6591
c.518C>G p.Pro173Arg missense Inter-domain Unknown Not Rett synd.-unaffected family member Female 6590
c.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] missense inter-domain, TRD Mutation associated with disease Rett syndrome-classical Female 6589
c.535C>T p.Pro179Ser missense inter-domain Unknown Not Rett synd.-mental retardation Female 6588
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 6585
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd.-congenital onset Female 6582
c.1132G>T p.Ala378Ser missense C-term Unknown Not Rett synd.-unaffected family member Female 6581
c.1132G>T p.Ala378Ser missense C-term Unknown Not Rett synd.-developmental delay Male 6580
c.1210G>A p.Glu404Lys missense C-term Unknown Rett syndrome-classical Female 6579
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6577
c.398G>C p.Arg133Pro missense MBD Mutation associated with disease Rett syndrome-classical Female 6576
c.1114C>T p.His372Tyr missense C-term Unknown Not Known Female 6575
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Not Rett synd.-mental retardation Female 6574
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6573
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6572
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6571
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6570
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6569
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6568
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6567
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6566
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6565
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6564
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6563
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6562
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6561
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6560
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6559
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6558
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6557
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6556
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6555
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6554
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6553
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6552
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6551
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6550
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6549
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6548
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6547
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6546
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6545
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6544
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6543
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6542
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6541
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6540
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6539
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6538
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6537
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6536
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6535
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6534
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6533
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6532
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 6531
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6530
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6529
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6528
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6527
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6526
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6525
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6524
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6523
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6522
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6521
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6520
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6519
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6518
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6517
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6516
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6515
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6514
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6513
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6512
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6511
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6510
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6509
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6508
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6507
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6506
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6505
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6504
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6503
c.473C>T p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 6502
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6384
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6383
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6382
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.-mental retardation and autism Female 6381
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6380
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6379
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6378
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6377
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6376
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6374
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6375
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 6373
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6372
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.-sporadic mental retardation Female 6371
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6370
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6369
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6367
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6368
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6366
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6365
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6364
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6363
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6361
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.-sporadic mental retardation Female 6362
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6360
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6359
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6358
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6357
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6356
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 6355
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.-sporadic mental retardation Female 6354
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6349
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6348
c.469T>A p.Phe157Ile missense MBD Mutation associated with disease Rett syndrome-classical Female 6342
MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Rett syndrome-classical Female 6343
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6839
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3048
c.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Not Known Female 2055
c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" missense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Rett syndrome-classical Female 4299
c.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Rett syndrome-Atypical Female 4340
c.[964C>G(;)*98dupA] p.Pro322Ala missense, 3'UTR variation C-term Unknown Rett syndrome-classical Female 6346
c.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-Not certain Unknown 131
c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 2225
c.[343C>T(;)1075_1178del104] p.[Arg115Cys(;)Ser359fs] missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 3852
c.[401C>G;1168_1173del6] p.[Ser134Cys;Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 5249
c.[401C>G; 1168_1173del6] p.[Ser134Cys; Pro390_Pro391del] missense, in-frame insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-classical Female 6613
c.[608C>T(;)763C>T] p.[Thr203Met(;)Arg255*] Missense, nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 475
c.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] Missense, nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1236
c.[710G>T(;)763C>T] p.[Gly237Val(;)Arg255*] missense, nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2460
c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] missense, nonsense inter-domain region, TRD Unknown Rett syndrome-classical Female 4795
c.[965C>T(;)999G>T] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Rett syndrome-Not certain Female 122
c.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Rett syndrome-Classical Female 440
c.[916C>T(;)984C>T] p.[Arg306Cys(;)Leu328Leu] Missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 473
c.[316C>T(;)1233C>T] p.[Arg106Trp(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4226
c.[473C>T(;)1233C>T] p.[Thr158Met(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4242
c.[473C>T(;)1335G>A] p.[Thr158Met(;)Thr445Thr] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Classical Female 4243
c.[397C>T(;)1233C>T] p.[Arg133Cys(;)Ser411Ser] missense, silent MBD, C-term Mutation associated with disease Rett syndrome-Atypical Female 4249
c.[916C>T(;)1233C>T] p.[Arg306Cys(;)Ser411Ser] missense, silent TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 4286
c.[455C>G(;)582C>T] p.[Pro152Arg(;)Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4339
c.[397C>T(;) 582C>T] p.[Arg133Cys(;) Ser194Ser] missense, silent MBD, inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4736
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27
c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 31
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 130
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 142
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 148
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 173
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 174
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 175
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 176
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 177
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 178
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 179
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 180
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 181
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 182
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 183
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 184
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 195
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 196
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 197
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 198
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 199
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 200
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 201
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 202
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 203
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 204
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216
c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Rett syndrome-Not certain Unknown 236
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 237
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 238
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 239
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 240
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 241
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 242
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 243
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 244
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 245
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 246
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 247
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 248
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 249
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 250
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 251
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 252
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 270
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 271
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 272
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 273
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 274
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 275
c.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 276
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 277
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 278
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 279
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 280
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 281
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 282
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 283
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 330
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 356
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 357
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 387
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 388
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 389
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 390
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 392
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393
c.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 396
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 407
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 408
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 412
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 416
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428
c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 430
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 457
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 458
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 480
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 481
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 948
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 947
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 945
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 943
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 941
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 940
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931
c.592A>T p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 925
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 923
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 922
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 920
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Unknown 909
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 907
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 908
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 905
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 906
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 901
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 902
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 898
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome- Unknown 899
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 896
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 897
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 892
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 893
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 891
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 882
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 883
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 877
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 876
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 875
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 874
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 873
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 872
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 871
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 870
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 869
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 842
c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd.-X-linked mental retardation Male 838
c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd.-Unaffected family member Female 1542
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1063
c.430A>T p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078
c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1079
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106
c.1079C>A p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Female 1149
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Not Rett synd.-Angelman syndrome Female 1154
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1156
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1157
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1158
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1159
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1160
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1161
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1162
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1166
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1167
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1168
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1169
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1198
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1207
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1227
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1228
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1229
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1230
c.[763C>T(;)1449G>C] p.[Arg255*(;)Glu483Asp] Nonsense TRD, C-term Mutation associated with disease Rett syndrome-Classical Female 1235
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261
c.55C>T p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 1264
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1307
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1308
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1309
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1310
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1311
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1312
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1313
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1314
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1315
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1316
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1317
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1318
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1319
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1320
c.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1321
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1322
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1323
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1324
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1325
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1326
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1327
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1328
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1329
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1330
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1331
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1332
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1333
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1334
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1335
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1336
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1337
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1338
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1339
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1340
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1341
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1342
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1343
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1344
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1345
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1346
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1347
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1348
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1349
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1350
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1351
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1352
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1353
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1354
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378
c.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1404
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420
c.889C>T p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1421
c.889C>T p.Gln297* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1422
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1434
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1445
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1446
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1447
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1448
c.622C>T p.Gln208* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1449
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1450
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1451
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453
c.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1459
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 1461
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1469
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1470
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1471
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1472
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1473
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1474
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1475
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1476
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1485
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1486
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1487
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1488
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1489
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1490
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd.-Unaffected family member Female 1493
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1494
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Unknown 1510
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1511
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1512
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1513
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1514
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1515
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1516
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1517
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1518
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519
c.423C>G p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-classical Unknown 1521
c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd.-X-linked mental retardation Male 1543
c.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd.-Unaffected family member Female 1544
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1605
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1608
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1656
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667
c.529A>T p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676
c.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1678
c.523A>T p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714
c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720
c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1726
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731
c.194C>G p.Ser65* Nonsense N-term Mutation associated with disease Not Known Female 1732
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753
c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Not Known Female 1755
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761
c.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1762
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786
c.760A>T p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1790
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861
c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1922
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1928
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1934
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938
c.611C>G p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1943
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1954
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1955
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1962
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1963
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064
c.865A>T p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105
c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106
c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2192
c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2193
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233