MECP2 Proband List



Nucleotide change Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID
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.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.1197C>T silent C-term Silent polymorphism Not Rett synd.-mental retardation Female 6868
c.1189G>A Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6866
c.1168_1173del6 frameshift insertion or deletion C-term Unknown Not Rett synd.-mental retardation Female 6865
c.1133C>G Missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6864
c.1035A>G silent C-term Silent polymorphism Not Rett synd.-mental retardation Female 6863
c.996C>T silent C-term Silent polymorphism Not Rett synd.-mental retardation Female 6862
c.897C>T silent TRD Silent polymorphism Not Rett synd.-mental retardation Female 6861
c.897C>T silent TRD Silent polymorphism Not Rett synd.-mental retardation Female 6860
c.834C>T silent TRD Silent polymorphism Rett syndrome-atypical Female 6859
c.819G>T silent TRD Silent polymorphism Not Rett synd.-mental retardation Female 6858
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.582C>T silent inter-domain region Silent polymorphism Not Rett synd.-autism Female 6853
c.916C>T missense TRD Mutation associated with disease Rett syndrome-atypical Female 6876
c.582C>T silent inter-domain region Silent polymorphism Not Rett synd.-mental retardation Female 6854
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
c.375C>A silent MBD Silent polymorphism Not Rett synd.-mental retardation Female 6846
MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 6845
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
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd.-mental retardation Female 6839
c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811
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.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 4334
c.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Not Known Female 2041
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.[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.[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.*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
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd.-congenital onset Female 6582
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070
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.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
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327
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
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 3864
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-not certain Female 3867
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
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
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.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.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-atypical Female 2758
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
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
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
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd.-non-specific mental retardation Female 2563
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
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 3595
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
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
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.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.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd.-not certain Female 4822
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.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.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2803
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.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
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.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.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756
MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Rett syndrome-classical Female 5233
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 3865
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759
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
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3768
MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-not certain Female 3868
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 5136
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6625
MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Rett syndrome-classical Female 6343
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
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
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497
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
c.224C>T p. Pro75Leu missense N-term Unknown Not Known Female 4425
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.(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.1461A>C p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942
c.1461A>G p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700
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.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
c.631-?_657+?del p.? exonic deletion MBD Mutation associated with disease Rett syndrome-classical Female 3786
c.631-?_657+?dup p.? exonic duplication MBD Unknown Rett syndrome-preserved speech Female 3787
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4806
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.393C>G p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1639
c.393C>G p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd.-Prader-Willi syndrome Male 2496
c.393C>G p.Ala131Ala silent MBD Silent polymorphism Not Rett synd.-Autism Unknown 2664
c.393C>G p.Ala131Ala silent MBD Silent polymorphism Not Rett synd.-non-Rett syndrome control Unknown 3995
c.392C>A p.Ala131Asp missense MBD Unknown Rett syndrome-classical Female 3623
c.392C>A p.Ala131Asp missense MBD Mutation associated with disease Rett syndrome-classical Female 6760
c.390dupA p.Ala131fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6636
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.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.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.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.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-late onset cognitive regression, parkinsonism, neuropsychiatric symptoms Female 5302
c.419C>T p.Ala140Val missense MBD Unknown Not Rett synd.-mental retardation Female 4093
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.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.603G>A p.Ala201Ala silent inter-domain region Silent polymorphism Not Rett synd.-normal control Female 4391
c.601dupG p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 135
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 141
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 151
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385
c.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430
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.602C>T p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1973
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-Autism Male 2665
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.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Male 2767
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 3804
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-autism Male 3808
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3929
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.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4751
c.602C>T p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 5069
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.605G>A p.Ala202His Missense Inter-domain Unknown Rett syndrome-atypical Female 5330
c.715delG p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787
c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1374
c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1375
c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431
c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd.-Unaffected family member Female 1846
c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894
c.777C>T p.Ala259Ala silent TRD-NLS Silent polymorphism Not Rett synd.-normal control Female 4387
c.830delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277
c.829delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6631
c.834C>T p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19
c.834C>T p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47
c.834C>T p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1593
c.834C>T p.Ala278Ala silent TRD Silent polymorphism Not Rett synd.-mental retardation Male 3026
c.834C>T p.Ala278Ala silent TRD Silent polymorphism Not Rett synd.-non-Rett syndrome control Unknown 3920
c.834C>T p.Ala278Ala silent TRD Silent polymorphism Not Rett synd.-non-Rett syndrome control Unknown 3996
c.832G>A p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 5236
c.834_939del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4497
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.840C>T p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd.-Unaffected family member Female 1234
c.840C>T p.Ala280Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1649
c.840C>T p.Ala280Ala silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 4633
c.840C>T p.Ala280Ala silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 4634
c.843C>T p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127
c.843C>T p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900
c.843C>T p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043
c.843C>T p.Ala281Ala silent TRD Silent polymorphism Not Rett synd.-schizophrenia Unknown 4619
c.843C>T p.Ala281Ala silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5196
c.849C>G p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd.-X-linked mental retardation Male 1019
c.857_858dupAA p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6748
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5253
c.859G>C p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-epileptic encephalopathy Male 3810
c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3989
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.1132_1202del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369
c.1132_1202del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3761
c.1133C>G p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 4099
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.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167
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.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-autism only Male 1574
c.1315G>A p.Ala439Thr Missense C-term Unknown Not Rett synd.-Unaffected family member Female 1587
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.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.1315G>A p.Ala439Thr missense C-term Unknown Not Rett synd.-mental retardation Female 2777
c.1320dupT p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752
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.1330_1342del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711
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.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.1330G>A p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd.-Autism Male 2671
c.1330G>A p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Female 2778
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.1338_1354del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716
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.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.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd.-normal control Unknown 5224
c.1340C>T p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650
c.215dupC p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2930
c.215_216insT p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3257
c.229_238del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713
c.229_238del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6640
c.315dupA p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921
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.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.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.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033
c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436
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.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3418
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3525
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.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.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6759
c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6577
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>G p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095
c.316C>G p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3425
c.317G>T p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10
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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191
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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262
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.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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879
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.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.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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242
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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801
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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067
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 p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438
c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470
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.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.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067
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>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3382
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3395
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>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.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.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3803
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.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.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4315
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.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.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4808
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.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4904
c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 5054
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.331A>G p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1279
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105
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.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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 839
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395
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.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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038
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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482
c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd.-Angelman syndrome Female 2491
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539
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.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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856
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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892
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.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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995
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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3366
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3385
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.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>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.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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3790
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4062
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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4248
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4314
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.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.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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 4809
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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 4865
c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4917
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.397C>T p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 5123
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
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.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.397C>G p.Arg133Gly Missense MBD Unknown Not Known Female 1798
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 29
c.398G>A p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433
c.398G>A p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111
c.398G>A p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3432
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.398G>A p.Arg133His missense MBD Unknown Rett syndrome-atypical Female 5112
c.398G>T p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329
c.398G>C p.Arg133Pro missense MBD Mutation associated with disease Rett syndrome-classical Female 6576
c.483delG p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888
c.480delT p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3260
c.484dupA p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 4084
c.499C>T p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd.-X-linked mental retardation Male 1013
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.499C>T p.Arg167Trp missense Inter-domain Unknown Not Rett synd.-x-linked mental retardation Male 6591
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 142
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894
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.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.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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377
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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683
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.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.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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949
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.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036
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
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2404
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2406
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2420
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2422
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2427
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2441
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2454
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2458
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2462
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2463
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2469
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2474
c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2485
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 2541
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2593
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2594
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2595
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2895
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2938
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2939
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-atypical Female 2964
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2978
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2979
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2980
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3003
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3004
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3040
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3181
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3182
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3183
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3184
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3185
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3186
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3187
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3188
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3189
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3190
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3191
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3192
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3193
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3194
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3195
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3196
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3197
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3354
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3367
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3368
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3369
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3406
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3407
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3463
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3464
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3465
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3466
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3467
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3468
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3469
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3470
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3471
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3472
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3473
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3474
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3475
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3476
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3477
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3567
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3568
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3569
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3570
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3571
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3572
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3573
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3574
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3575
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3576
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3577
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3578
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3688
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3689
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3690
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3691
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3692
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3693
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3694
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3695
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3696
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3697
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3698
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3699
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3700
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3701
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3702
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3703
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3704
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3791
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3815
c.[502C>T; 1136_1142del7] p.Arg168* nonsense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 3853
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4067
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4140
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4141
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4142
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4143
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4144
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4251
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4252
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4253
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4254
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4255
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4256
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4257
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4258
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4259
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4260
c.502C>T p.Arg168* nonsense MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 4305
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4371
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4372
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4373
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4461
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4462
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4463
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4464
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4465
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4715
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4716
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4811
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4842
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4843
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4870
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4871
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4872
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4873
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5055
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5056
c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5057
c.[502C>T;880C>T] p.Arg168* nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-not certain Female 5242
c.502C>T p.Arg168* nonsense Inter-domain region Mutation associated with disease Not Rett synd.-mental retardation and autism combined Female 6737
c.[502C>T; 880C>T] p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6621
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6501
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6500
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6499
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6498
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6497
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6496
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6495
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6494
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6493
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6492
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6491
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6490
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6489
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6488
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6487
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6486
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6485
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6484
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6483
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6482
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6481
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6480
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6479
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6478
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6477
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6476
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6475
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6474
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6473
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6472
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6471
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6470
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6469
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6468
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6467
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6466
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6465
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6464
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6463
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6462
c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6461
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.566dupG p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4374
c.592A>T p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930
c.592A>T p.Arg198* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3200
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.633G>C p.Arg211Ser missense TRD Polymorphism not causing disease Not Rett synd.-normal control Unknown 5189
c.750C>T p.Arg250Arg Silent TRD Silent polymorphism Not Rett synd.-Unaffected family member Female 1238
c.750C>T p.Arg250Arg Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1633
c.750C>T p.Arg250Arg silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5191
c.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33
c.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866
c.748_753del6insGGCCG p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872
c.748_749insT p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3267
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.756_759delCAGG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 188
c.756_759delCAGG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3757
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27
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.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.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.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.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.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.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.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.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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895
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.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.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.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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220
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.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.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.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.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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797
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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854
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.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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944
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.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.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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2398
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2402
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2412
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2418
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2426
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2431
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2433
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2434
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2446
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2459
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2465
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2473
c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Female 2477
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2599
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2600
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2601
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2602
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2603
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 2769
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2860
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2879
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2897
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2898
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2899
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2940
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2965
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2966
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2967
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2981
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2982
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3005
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3041
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3042
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3201
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3202
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3203
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3204
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3205
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3206
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3207
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3208
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3209
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3210
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3211
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3212
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3213
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3214
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3215
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3216
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3370
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3371
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3372
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3373
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3479
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3480
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3481
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3482
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3483
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3484
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3485
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3486
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3487
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3488
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3489
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3490
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3491
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3579
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3580
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3581
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3582
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3583
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3706
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3707
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3708
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3709
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3710
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3711
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3712
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3713
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3714
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3715
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3716
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3805
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3813
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3814
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4145
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4146
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4147
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4148
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4261
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4262
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4263
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4264
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4265
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4307
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4377
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4378
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4379
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4380
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4381
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4482
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Rett synd.-unaffected family member Female 4483
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4484
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4485
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4486
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4487
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4488
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4489
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4490
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4717
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4718
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4719
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4720
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4813
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4845
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 4846
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4875
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4876
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4912
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4925
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4926
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 5049
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 5050
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Not Rett synd.-intellectual disability Female 5126
c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6743
c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6742
c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6741
c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6740
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6460
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6459
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6458
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6457
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6456
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6455
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6454
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6453
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-congenital Female 6452
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6451
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6408
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6407
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6405
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6406
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6404
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6403
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6402
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6401
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6400
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6399
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6398
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6397
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6396
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6394
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6395
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6393
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6392
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6391
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6390
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6388
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6389
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6387
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6386
c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6385
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671
c.756_763dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2888
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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 130
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.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.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.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.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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382
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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd.-Progressive encephalopathy of neonatal onset Female 1149
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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738
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.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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957
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.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2410
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2414
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2435
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2439
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Congenital onset Female 2443
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2456
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2471
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2479
c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2481
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2543
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2606
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2607
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2608
c.[26+22C>G(;) 808C>T] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827
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.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2900
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2941
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2942
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2943
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2969
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2983
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3043
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3217
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3218
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3219
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3220
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3221
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3222
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3223
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3224
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3225
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3226
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3227
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3228
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3229
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3230
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3231
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3232
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3233
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3234
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3360
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3400
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3401
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3402
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3492
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3493
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3494
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3495
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3496
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3497
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3498
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3499
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3500
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3501
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3502
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3503
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3584
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3585
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3586
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3587
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3588
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3589
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3590
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3717
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3718
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3719
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3720
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3721
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3722
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3723
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3724
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3725
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3726
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3727
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3728
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3729
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3730
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3731
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3795
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4068
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4069
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4149
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4150
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4151
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4266
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4267
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4268
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4269
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4270
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4271
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 4272
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4311
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4320
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4382
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4383
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4491
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4492
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4493
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4494
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4495
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4496
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4721
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4722
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4723
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4814
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4877
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4927
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4928
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4929
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5058
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5128
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5129
c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6746
c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Not Known Female 6745
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6450
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6449
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6448
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6447
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6446
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6445
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6444
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6443
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6441
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6442
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6440
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6439
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6438
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6437
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6436
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6435
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6434
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6432
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6433
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6431
c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6430
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115
c.808delC p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870
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.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-progressive encephalopathy of neonatal onset Male 2793
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
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3411
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3743
c.808delC p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3766
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.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.807_*125del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 148
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.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.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.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.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.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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904
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.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.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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211
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.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.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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840
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.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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958
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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2397
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2403
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2445
c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2449
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-male variant Male 2550
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2611
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2612
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2613
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2614
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2859
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2864
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2880
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2881
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2901
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd.-autism only Female 2911
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2944
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2970
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2984
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2985
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3006
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3044
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3045
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3235
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3236
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3237
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3238
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3239
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3240
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3241
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3242
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3243
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3244
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3245
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3246
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3247
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3248
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3249
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3250
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3251
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3252
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3363
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3364
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3365
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3403
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3404
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3405
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3504
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3505
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3506
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3591
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3592
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3593
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3732
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3733
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3734
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3735
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3736
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3737
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3738
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3739
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3740
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3741
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3742
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4090
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4091
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4129
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4130
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4131
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4132
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4133
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4134
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4293
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4294
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4295
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4296
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4297
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4298
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4309
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4384
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4385
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4499
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4500
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4501
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4502
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4503
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4504
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4505
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4724
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4725
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4726
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4727
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4847
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4913
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4921
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4930
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 5130
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd.-Rett-like Female 5131
c.880C>T p.Arg294* Missense TRD Mutation associated with disease Not Known Female 6761
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6429
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6428
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd.-mental retardation Female 6427
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6426
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6425
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6424
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6423
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6422
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6421
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6420
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-forme fruste Female 6419
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6418
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6417
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6416
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6415
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6414
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6413
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6412
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6411
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 6410
c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6409
c.880_884del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254
c.881_902del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3605
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.[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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25
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.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.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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927
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.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.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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209
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.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.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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807
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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320
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.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.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467
c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488
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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648
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.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.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.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.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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd.- Female 2976
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.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.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.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.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.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.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.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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3797
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3806
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3873
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4066
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.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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 5299
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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4310
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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 4747
c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4816
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.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.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.916C>T p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 4924
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.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.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.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 3
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 413
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Classical Female 467
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Not Known Female 476
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1062
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1617
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1630
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1827
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1906
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-classical Female 1929
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2321
c.917G>A p.Arg306His Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2328
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.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.917G>A p.Arg306His missense TRD Mutation associated with disease Not Known Female 4512
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-mental retardation Male 3909
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-autism spectrum disorder Female 4618
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-psychomotor delay and absence of speech Male 4748
c.925C>T p.Arg309Trp missense TRD Unknown Not Rett synd.-intellectual disability Female 5132
c.925C>T p.Arg309Trp missense TRD Unknown Rett syndrome-atypical Female 5325
c.1030_1195del166insGT p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1366
c.1030C>G p.Arg344Gly missense C-term Unknown Rett syndrome-classical Female 4803
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.1030C>T p.Arg344Trp missense C-term Unknown Rett syndrome-atypical Female 4891
c.1061_1156del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196
c.1061G>A p.Arg354His Missense C-term Unknown Not Rett synd.-Unaffected family member Female 2207
c.1061G>T p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 2003
c.1357C>T p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2388
c.1357C>T p.Arg453* nonsense C-term Mutation associated with disease Not Known Female 4422
c.1358G>A p.Arg453Gln Missense C-term Unknown Not Rett synd.-X-linked mental retardation Male 1017
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.1373G>A p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3876
c.1404G>A p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142
c.1403_1408del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466
c.1433G>A p.Arg478Gln missense C-term Polymorphism not causing disease Not Rett synd.-normal control Female 5225
c.1450_1453delAGAG p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3746
c.1451G>C p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4047
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766
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.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
c.27-6C>G p.Arg9fs Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 1355
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.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.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.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-Atypical Female 2500
c.27-12521_*5072del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2531
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.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.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.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.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.27-6215_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.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.27-96_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.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.27-3928_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.[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.27-5774_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.27-?_*?del p.Arg9fs exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3353
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.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.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-?_*?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.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.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.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.375delC p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 185
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-?_1170+?del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3618
c.375delC p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3754
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 3781
c.377A>T p.Asn126Ile missense MBD Unknown Not Rett synd.-infant-onset encephalopathy Male 6620
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.377A>G p.Asn126Ser missense MBD Unknown Not Rett synd.-microcephaly, neonatal seizures Female 4094
c.1408_1411del4insTG p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5251
c.362A>G p.Asp121Gly Missense MBD Unknown Not Known Female 2065
c.439G>A p.Asp147Asn missense MBD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4044
c.439delG p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 254
c.451delG p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1526
c.452A>G p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2958
c.452A>G p.Asp151Gly missense MBD Unknown Rett syndrome-not certain Female 3434
c.467A>C p.Asp156Ala missense MBD Unknown Rett syndrome-classical Female 3625
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.468C>G p.Asp156Glu Missense MBD Unknown Rett syndrome-classical Unknown 1522
c.468C>G p.Asp156Glu Missense MBD Unknown Not Known Female 1788
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117
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.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.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-Classical Female 4245
c.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 4319
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.468C>G p.Asp156Glu missense MBD Unknown Rett syndrome-classical Female 4849
c.468C>G p.Asp156Glu missense MBD Mutation associated with disease Rett syndrome-classical Female 6732
c.467A>G p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 266
c.467A>G p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1292
c.35_42dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1458
c.50dupA p.Asp17fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 4789
c.766_779dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3380
c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 468
c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Unknown 1525
c.1190dupA p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524
c.291C>A p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 865
c.291C>A p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083
c.289G>T p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28
c.289G>T p.Asp97Tyr Missense MBD Unknown Rett syndrome-Classical Female 1221
c.289G>T p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646
c.289G>T p.Asp97Tyr missense MBD Unknown Rett syndrome-Classical Female 4346
c.1015T>C p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 3565
c.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061
c.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd.-Unaffected family member Male 2062
c.326dupA p.Gln110fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 4347
c.382C>T p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3169
c.382C>T p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 4911
c.382_1189del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3258
c.383A>C p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 2867
c.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1678
c.46C>T p.Gln16* Nonsense N-term Mutation associated with disease Not Known Female 1762
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078
c.508C>T p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1320
c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3198
c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3408
c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3478
c.508C>T p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3705
c.506_507dupAG p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Not Rett synd.-inf enceph Male 6638
c.55C>T p.Gln19* Nonsense N-term Mutation associated with disease Rett syndrome-Atypical Female 1264
c.55C>T p.Gln19* nonsense N-term Mutation associated with disease Not Known Female 4469
c.622C>T p.Gln208* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1449
c.620dupT p.Gln208fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Unknown 843
c.679C>T p.Gln227* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6584
c.679C>G p.Gln227Glu missense TRD Unknown Not Rett synd.-sporadic mental retardation Female 2660
c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 31
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.730C>T p.Gln244* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6583
c.731_1166del436 p.Gln244fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 255
c.784C>T p.Gln262* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3800
c.784C>T p.Gln262* nonsense TRD-NLS Mutation associated with disease Not Known Female 4098
c.785_818del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 140
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.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.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.1216C>T p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd.-Sporadic mental retardation Female 2490
c.1216C>T p.Gln406* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4914
c.1308_1309delTC p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122
c.1308_1309delTC p.Gln437fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6642
c.28G>T p.Glu10* nonsense N-term Mutation associated with disease Rett syndrome-not certain Female 3168
c.28G>C p.Glu10Gln missense N-term Unknown Rett syndrome-forme fruste Female 2866
c.411delG p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1484
c.410A>G p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd.-X-linked mental retardation Male 1012
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.428_429insT p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1641
c.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 276
c.613G>T p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1321
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.842_843insT p.Glu282fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6634
c.869_880delinsCACA p.Glu290Alafs*38 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Female 5060
c.894_1095del202 p.Glu298fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3519
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 4513
c.953A>C p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707
c.953A>C p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945
c.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203
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.1043_1173del131insTG p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381
c.1093_1095delGAG p.Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 4818
c.1121_1191del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256
c.[1121_1311del191; 1326_1334del9] p.Glu374fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4708
c.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1857
c.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Not certain Female 1876
c.1173_1207del35 p.Glu392* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6645
c.1176G>A p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1218
c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Male 3033
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.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 5237
c.1180_1181insT p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5110
c.1189G>T p.Glu397* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4313
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205
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.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 437
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1394
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.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Female 1573
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Unaffected family member Female 1589
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835
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.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1974
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130
c.1189G>A p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152
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.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2656
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-Autism Male 2667
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-non-specfic mental retardation Female 2774
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-mental retardation Male 3028
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-non-Rett syndrome control Unknown 3919
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.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.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4757
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd.-not certain Female 4819
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-atypical Female 4861
c.1189G>A p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5068
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.1210G>A p.Glu404Lys missense C-term Unknown Rett syndrome-classical Female 6579
c.117dupA p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3256
c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3596
c.119_120delAG p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd.-neonatal encephalopathy Male 3869
c.1363G>T p.Glu455* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 4851
c.1364_1365insC p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127
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.189_190delGA p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2564
c.226delG p.Glu76fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6641
c.308G>A p.Gly103Asp missense MBD Unknown Rett syndrome-atypical Female 4395
c.341G>C p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884
c.386G>T p.Gly129Val Missense MBD Unknown Not Known Female 2137
c.386G>T p.Gly129Val missense MBD Unknown Rett syndrome-not certain Female 3528
c.480_481delTG p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 443
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090
c.482G>A p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812
c.481G>T p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 231
c.482G>T p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 1942
c.482G>T p.Gly161Val missense MBD Unknown Rett syndrome-classical Female 4097
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.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.488_1189del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3261
c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-mental retardation Female 2771
c.547G>C p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3981
c.554delG p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109
c.566delG p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1468
c.585C>T p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 2136
c.617G>C p.Gly206Ala missense inter-domain region Unknown Not Rett synd.-Autism Male 2666
c.617delG p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091
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.651_652delTG p.Gly218fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1774
c.651_652delTG p.Gly218fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 2542
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.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 186
c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1952
c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2092
c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3409
c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3755
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1110
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.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1598
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1734
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1871
c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2093
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3597
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4070
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4182
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4706
c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6632
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 32
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 386
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1424
c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1795
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2896
c.711_1269del559 p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3266
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 5066
c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6633
c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 369
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.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.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1252
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 1560
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1668
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1815
c.755delG p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-atypical Female 1951
c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Male 2047
c.753delC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2094
c.753dupC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2598
c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4480
c.753_754dup p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6667
c.806delG p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Rett syndrome-preserved speech Female 6744
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 21
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 137
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 342
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 472
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1148
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1426
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1452
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1618
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1680
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1702
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1744
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1812
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1843
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 1926
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1965
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.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 2010
c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Known Male 2060
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.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.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd.-progressive encephalopathy of neonatal onset Male 2794
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3007
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.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.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3765
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4071
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4707
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4850
c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4915
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.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.806delG p.Gly269fs nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6578
c.816_832del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2609
c.819G>T p.Gly273Gly Silent TRD Silent polymorphism Not Rett synd.-Unaffected family member Female 442
c.819G>T p.Gly273Gly Silent TRD Silent polymorphism Not Known Female 1735
c.819G>T p.Gly273Gly Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1899
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Rett syndrome-Classical Female 2635
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Not Rett synd.-sporadic mental retardation Unknown 2653
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5192
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5193
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5194
c.819G>T p.Gly273Gly silent TRD Silent polymorphism Not Rett synd.-normal control Unknown 5195
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.999G>T p.Gly333Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4755
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.1028_1158del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4890
c.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949
c.1057_1219del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507
c.1265_1289del25insAGCGGCCG p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824
c.1266C>T p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911
c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Not Rett synd.-non-specfic mental retardation Female 2776
c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4758
c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5221
c.1284C>T p.Gly428Gly silent C-term Silent polymorphism Rett syndrome-classical Female 3816
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Non-progressive encephalopathy of neonatal onset Male 1150
c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Progressive encephalopathy of neonatal onset Male 1529
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.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.274G>T p.Gly92* nonsense MBD Mutation associated with disease Rett syndrome-classical Female 4396
c.1096_1201del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1368
c.1097_1203del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098
c.1097_*13del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1367
c.1101_1201del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853
c.1099_1118del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255
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.1101_1201del101 p.His367fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5063
c.[1103_1172del; 1185_1191del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 852
c.1105delC p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695
c.1105_1225del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287
c.1105delC p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6670
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.1104_1106del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23
c.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477
c.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099
c.1116_1201del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623
c.1115_1326del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3748
c.1114C>T p.His372Tyr missense C-term Unknown Not Known Female 6575
c.1115_1201del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777
c.126dupG p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Atypical Female 2100
c.153C>G p.His51Gln missense N-term Unknown Not Rett synd.-unaffected family member Female 4393
c.153C>G p.His51Gln missense N-term Unknown Not Rett synd.-unaffected family member Female 4788
c.155A>G p.His52Arg Missense N-term Unknown Not Rett synd.-not certain Female 2141
c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Unknown 1002
c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1123
c.375C>A p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1826
c.375C>A p.Ile125Ile silent MBD Silent polymorphism Not Rett synd.-autism spectrum disorder Unknown 4623
c.375C>A p.Ile125Ile silent MBD Silent polymorphism Not Rett synd.-schizophrenia Unknown 4624
c.375C>A p.Ile125Ile silent MBD Silent polymorphism Not Rett synd.-normal control Unknown 4625
c.375C>A p.Ile125Ile silent MBD Silent polymorphism Rett syndrome-not certain Female 4749
c.871_1044del p.Ile293_Ser350del in-frame insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-atypical Female 4879
c.906delC p.Ile303fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3283
c.909C>G p.Ile303Met missense TRD Unknown Not Rett synd.- Female 2977
c.909C>G p.Ile303Met missense TRD Unknown Not Rett synd.-nonspecific mental retardation Female 4882
c.908T>G p.Ile303Ser missense TRD Unknown Rett syndrome-not certain Female 3141
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
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9
c.942C>T p.Ile314Ile silent C-term Silent polymorphism Not Rett synd.-mental retardation Male 3027
c.942C>T p.Ile314Ile silent C-term Silent polymorphism Not Rett synd.-schizophrenia Unknown 4617
c.258_259delCA p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123
c.299T>G p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1932
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Classical Female 1215
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1648
c.298C>G p.Leu100Val Missense MBD Unknown Rett syndrome-atypical Female 1946
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-not certain Female 4903
c.298C>G p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 6599
c.318_321dup p.Leu108fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4932
c.323T>A p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 2570
c.372G>C p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 155
c.372G>C p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3396
c.372G>T p.Leu124Phe missense MBD Unknown Rett syndrome-classical Female 3633
c.413T>A p.Leu138* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3170
c.413T>C p.Leu138Ser missense MBD Unknown Rett syndrome-classical Female 4394
c.56dupA p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4470
c.660C>T p.Leu220Leu silent TRD Silent polymorphism Not Rett synd.-autism Female 3809
c.76delC p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Unknown 878
c.76delC p.Leu26fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3383
c.903C>T p.Leu301Leu Silent TRD Silent polymorphism Rett syndrome-Classical Female 1432
c.900_908del p.Leu301_Ile303del in-frame insertion or deletion TRD Unknown Rett syndrome-forme fruste Female 4386
c.984C>T p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351
c.984C>T p.Leu328Leu Silent C-term Silent polymorphism Not Rett synd.-Unaffected family member Female 474
c.984C>T p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128
c.984C>A p.Leu328Leu silent C-term Silent polymorphism Not Known Male 3911
c.984C>T p.Leu328Leu silent C-term Silent polymorphism Rett syndrome-atypical Female 4863
c.984C>A p.Leu328Leu silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5206
c.984C>T p.Leu328Leu silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5207
c.984C>T p.Leu328Leu silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5208
c.982C>G p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166
c.1145_1194del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914
c.1145_1194del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3358
c.1147_1174del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-mental retardation Female 6639
c.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936
c.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125
c.1157_1187del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347
c.[1157_1197del41; 1232_1240del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 384
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.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Angelman syndrome Female 1151
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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206
c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257
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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457
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.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698
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.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768
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.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814
c.1157_1197del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834
c.1157_1200del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008
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.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.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.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770
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.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-autism only Female 2910
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.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.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.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.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.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.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357
c.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3359
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.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.1157_1200del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3871
c.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4343
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.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.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.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.1157_1197del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Rett-like Female 5135
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.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.1157_1192del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751
c.1155_1166del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 5059
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.1156_1200del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286
c.1223_1265del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117
c.1271_1416del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662
c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Rett syndrome-not certain Female 2865
c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4046
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.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-Classical Female 2578
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 2934
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3433
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 4096
c.403A>G p.Lys135Glu missense MBD Unknown Rett syndrome-preserved speech Female 6618
c.430A>T p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064
c.430A>T p.Lys144* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2580
c.431A>G p.Lys144Arg missense MBD Polymorphism not causing disease Not Rett synd.-normal control Female 5185
c.431delA p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331
c.523A>T p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679
c.529A>T p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674
c.531delA p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247
c.538A>T p.Lys180* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3199
c.574A>T p.Lys192* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4874
c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 430
c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862
c.629A>T p.Lys210Ile Missense TRD Unknown Rett syndrome-Not certain Unknown 1301
c.654_657delGAAG p.Lys219fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2103
c.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1404
c.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Rett syndrome-Classical Female 1459
c.667A>T p.Lys223* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6612
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.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 187
c.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1423
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3265
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3756
c.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 4317
c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 4376
c.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6635
c.760A>T p.Lys254* Nonsense TRD Mutation associated with disease Not Known Female 1790
c.766A>T p.Lys256* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5127
c.767_1175del409 p.Lys256Serfs*17 frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 5062
c.799A>T p.Lys267* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2889
c.812_818del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 450
c.810_813delAAAG p.Lys271fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3872
c.849_1236del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 138
c.851_1188del338 p.Lys284fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3278
c.850A>G p.Lys284Glu Missense TRD Unknown Not Rett synd.-X-linked mental retardation Male 1018
c.857A>G p.Lys286Arg missense TRD Unknown Not Known Female 4498
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 35
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1607
c.854dupA p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1758
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1841
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Atypical Female 2104
c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2501
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 2610
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3279
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3355
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3793
c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6630
c.865A>T p.Lys289* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2105
c.864dupG p.Lys289fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1799
c.865_866delAA p.Lys289fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3280
c.911A>G p.Lys304Arg missense TRD Unknown Not Known Female 4506
c.910A>G p.Lys304Glu Missense TRD Unknown Not Known Female 2015
c.910A>G p.Lys304Glu missense TRD Unknown Rett syndrome-not certain Female 3142
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 30
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Not certain Female 1142
c.914A>G p.Lys305Arg Missense TRD Unknown Rett syndrome-Classical Female 2408
c.914A>G p.Lys305Arg missense TRD Unknown Rett syndrome-classical Female 3627
c.914_1172del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 143
c.913A>G p.Lys305Glu missense TRD Unknown Rett syndrome-not certain Female 3559
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.962_1267delinsG p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd.-Rett-like Female 5133
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.1009_1027del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd.-X-linked mental retardation Male 1021
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1635
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd.-Unaffected family member Male 2159
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd.-Schizophrenia Female 2377
c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd.-Schizophrenia Male 2378
c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Not Rett synd.-sporadic mental retardation Unknown 2655
c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 4626
c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5209
c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Not Rett synd.-normal control Unknown 5210
c.1039_1195del157insGT p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287
c.1041_*29del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745
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.1053_1156del104 p.Lys352fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6672
c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717
c.1087A>T p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106
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.107_113del7 p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3255
c.107_108delAA p.Lys36fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 3744
c.1129_1193del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736
c.1129_*568delinsCCGTGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3291
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.1128_1179del52 p.Lys377fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4106
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-progressive encephalopathy of neonatal onset Male 2796
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-unaffected family member Female 4675
c.1250A>T p.Lys417Met missense C-term Unknown Not Rett synd.-infant-onset encephalopathy Male 6619
c.245A>G p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd.-Non-Rett syndrome control Male 2673
c.243dupC p.Lys82fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 3750
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.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-Classical Female 1980
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
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.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2498
c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-Classical Female 2534
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.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-classical Female 2783
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.-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.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.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-not certain Female 3611
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.-168-?_26+?del (deletion exons 1 and 2) p.Met1? exon deletions N-term Mutation associated with disease Rett syndrome-congenital Female 4600
c.736_737insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 1425
c.736_743delinsGTG p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Not Known Female 4479
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 45
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Atypical Female 364
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd.-Unaffected family member Female 365
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd.-Sporadic mental retardation Male 1885
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd.-Unaffected family member Female 2505
c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd.-Unaffected family member Female 2506
c.426C>T p.Phe142Phe silent MBD Silent polymorphism Not Rett synd.-autism spectrum disorder Unknown 4622
c.464T>G p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069
c.464T>G p.Phe155Cys missense MBD Unknown Not Known Female 4442
c.463T>A p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 867
c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 840
c.464T>C p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032
c.470_471delTC p.Phe157fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-preserved speech Female 3412
c.469T>A p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 1622
c.469T>A p.Phe157Ile missense MBD Unknown Not Rett synd.-progressive encephalopathy of neonatal onset Male 2795
c.469T>A p.Phe157Ile missense MBD Mutation associated with disease Rett syndrome-classical Female 6342
c.471C>G p.Phe157Leu missense MBD Unknown Rett syndrome-classical Female 3913
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-Classical Female 4244
not certain p.Phe157Leu missense MBD Unknown Rett syndrome-not certain Female 4905
c.677_678insA p.Phe226fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 944
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.302C>G p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 190
c.302C>G p.Pro101Arg Missense MBD Unknown Not Rett synd.-Angelman syndrome Female 1152
c.302C>G p.Pro101Arg missense MBD Unknown Not Known Female 4426
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.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-Classical Female 1436
c.301C>T p.Pro101Ser Missense MBD Unknown Not Known Female 1687
c.301C>T p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822
c.301C>T p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169
c.380C>T p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291
c.380C>T p.Pro127Leu Missense MBD Unknown Rett syndrome-Classical Female 2457
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3426
c.380C>T p.Pro127Leu missense MBD Unknown Rett syndrome-classical Female 4095
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
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5
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.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107
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.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 265
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 362
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 419
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 426
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1225
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.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1462
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793
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.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2407
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2423
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2461
c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2468
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 2581
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.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 2957
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2987
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 3399
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.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.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.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4246
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 4363
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.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 4739
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 4848
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 4867
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 5067
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Not Rett synd.-Rett-like Female 5124
c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 5234
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.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.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.514C>T p.Pro172Ser missense inter-domain region Unknown Not Rett synd.-mental retardation and autism combined Male 2746
c.514C>T p.Pro172Ser missense inter-domain region Unknown Not Rett synd.-unaffected family member Female 3937
c.517C>G p.Pro173Ala Missense Inter-domain region Unknown Rett syndrome-Not certain Unknown 1370
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.[378-109A>G;518C>G] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Not Rett synd.-unaffected family member Female 5239
c.518C>G p.Pro173Arg missense Inter-domain Unknown Not Rett synd.-unaffected family member Female 6590
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
c.527C>G p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd.-sporadic mental retardation Unknown 2652
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.535C>T p.Pro179Ser missense inter-domain Unknown Not Rett synd.-mental retardation Female 6588
c.543_544delTC p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 3745
c.573C>T p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd.-mental retardation Male 3022
c.596C>A p.Pro199His missense inter-domain region Unknown Not Rett synd.-schizophrenia Female 4620
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 302
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 335
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.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1523
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1634
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1651
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2173
c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Not Known Female 2489
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-Classical Female 2597
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3000
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.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3451
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 3558
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 4746
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 4812
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Not Known Female 6739
c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 6585
c.674C>T p.Pro225Leu Missense TRD Unknown Rett syndrome-Male variant Male 1659
c.674C>T p.Pro225Leu Missense TRD Unknown Rett syndrome-Classical Female 2429
c.673C>A p.Pro225Thr missense TRD Mutation associated with disease Not Known Female 4474
c.689_756del68 p.Pro230fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4478
c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Not Known Female 2128
c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Not Rett synd.-Unaffected family member Male 2129
c.747_751dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Unknown 256
c.750_750delCinsTCAGGAAGCTT p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1380
c.752C>T p.Pro251Leu Missense TRD Polymorphism not causing disease Not Rett synd.-Unaffected family member Male 149
c.753C>T p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-classical Female 2994
c.753C>T p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-not certain Female 4753
c.753C>T p.Pro251Pro silent TRD Silent polymorphism Rett syndrome-not certain Female 4754
c.792_793delTC p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1895
c.795C>G p.Pro265Pro silent TRD-NLS Silent polymorphism Rett syndrome-atypical Female 4085
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.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Rett syndrome-Atypical Female 2127
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2634
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-mental retardation Male 2768
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Female 3930
c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Not Rett synd.-unaffected family member Male 3977
c.904C>G p.Pro302Ala Missense TRD Unknown Rett syndrome-Preserved speech Female 120
c.904C>G p.Pro302Ala Missense TRD Unknown Rett syndrome-Classical Female 318
c.904C>G p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3080
c.904C>G p.Pro302Ala missense TRD Unknown Rett syndrome-not certain Female 3140
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 11
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 26
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.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 938
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1171
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.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.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2450
c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2466
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3398
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-classical Female 3678
c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Rett syndrome-not certain Female 4920
c.905C>A p.Pro302His Missense TRD Unknown Rett syndrome-Not certain Unknown 144
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>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Unknown 910
c.905C>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Not certain Female 1636
c.905C>T p.Pro302Leu Missense TRD Unknown Not Known Female 1686
c.905C>T p.Pro302Leu Missense TRD Unknown Rett syndrome-Classical Female 2174
c.905C>T p.Pro302Leu missense TRD Unknown Rett syndrome-classical Female 3381
c.905C>T p.Pro302Leu missense TRD Unknown Rett syndrome-not certain Female 3452
c.906C>G p.Pro302Pro silent TRD Silent polymorphism Not Rett synd.-mental retardation Male 2753
c.904C>T p.Pro302Ser missense TRD Unknown Rett syndrome-Classical Female 2615
c.904C>A p.Pro302Thr missense TRD Unknown Rett syndrome-classical Female 3626
c.964C>G p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403
c.964C>G p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948
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.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 3807
c.964C>G p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 4817
c.[964C>G(;)*98dupA] p.Pro322Ala missense, 3'UTR variation C-term Unknown Rett syndrome-classical Female 6346
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178
c.965C>T p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3564
c.965C>T p.Pro322Leu missense C-term Unknown Rett syndrome-Classical Female 4287
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.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.1052_1200del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179
c.1053C>G p.Pro351Pro silent C-term Silent polymorphism Not Rett synd.-autism Male 5080
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.1085_1197del113 p.Pro362fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6671
c.1127C>G p.Pro376Arg Missense C-term Unknown Not Rett synd.-autism only Female 2369
c.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205
c.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527
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.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.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520
c.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3608
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.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.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-autism only Male 1570
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-Sporadic mental retardation Male 1908
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126
c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd.-not certain Male 2153
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.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858
c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Female 4045
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.1135_1142delCCCGTGCC p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Sporadic mental retardation Female 2000
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.1137C>T p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd.-autism only Female 1572
c.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012
c.1141C>G p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd.-unaffected family member Male 4050
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.1141C>T p.Pro381Ser missense C-term Unknown Rett syndrome-preserved speech Female 6615
c.1150_1192del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257
c.1151_1188del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915
c.1151_1191del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886
c.1151_1188del38 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3870
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.1151_1183del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3607
c.1153_1190del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18
c.1154_1185del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38
c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916
c.1152_1195del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456
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.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009
c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508
c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3609
c.1152_1195del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4411
c.1152_1292del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6657
c.1153_1188del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 4916
c.1152_*29del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5071
c.1159_1458del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3312
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.1158_1200del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259
c.1160_1200del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348
c.1158_1167del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949
c.1159_1201del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851
c.1159_1210del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd.-Angelman syndrome Female 1153
c.1158_1186del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179
c.1160_1188del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427
c.1160_1200del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842
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_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.1158_1200del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310
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.1160_1166del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4344
c.1160_1166del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4711
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.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3010
c.1158_1186del29insCCA p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3610
c.1160C>T p.Pro387Leu Missense C-term Unknown Not Rett synd.-X-linked mental retardation Male 1022
c.1161C>T p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2636
c.1161C>T p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-not certain Female 4756
c.1160_1180del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952
c.1160_1180del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313
c.1160_1200del41insAGGGGTGG p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Rett syndrome-classical Female 4854
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.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126
c.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918
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.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258
c.1163_*39del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1362
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478
c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940
c.1163_1179del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050
c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062
c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311
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.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 3379
c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3747
c.1162_1163delCC p.Pro388fs frameshift insertion or deletion