MECP2 Proband List
| Nucleotide change | Amino acid change | Type of sequence change | Domain change | Pathogenicity | Phenotype | Gender | Proband ID |
|---|---|---|---|---|---|---|---|
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6845 |
| c.*156G>T | Intronic variation | 3' UTR variation | 3' UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6875 |
| c.*92C>T | Intronic variation | 3' UTR variation | 3' UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6874 |
| c.*9G>A | Intronic variation | 3' UTR variation | 3' UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6873 |
| c.*487G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 48 |
| c.*93G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non Rett syndrome control | Unknown | 381 |
| c.*8C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 445 |
| c.*8C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 449 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 1386 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Not certain | Unknown | 1541 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1913 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1914 |
| c.*122delT | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-Not certain | Female | 1915 |
| c.*93G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Male | 1978 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Known | Female | 2118 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2119 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Known | Female | 2120 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2121 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-ADHD | Male | 2370 |
| c.*177G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-autism only | Female | 2371 |
| c.*177G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Unaffected family member | Female | 2372 |
| c.*5348T>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-autism only | Male | 2373 |
| c.*5348T>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Unaffected family member | Female | 2374 |
| c.*36G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Angelman syndrome | Female | 2494 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Female | 2527 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Female | 2528 |
| c.*92C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2638 |
| c.*328G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2639 |
| c.*328G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2640 |
| c.*359G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2641 |
| c.*363G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2643 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2674 |
| c.*93G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2675 |
| c.*204G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2676 |
| c.*371G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2677 |
| c.*544G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Unknown | 2678 |
| c.*554G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2679 |
| c.*767G>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Unknown | 2680 |
| c.*861T>G | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2681 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2682 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2683 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2684 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2685 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2686 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2687 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2688 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2689 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2690 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2691 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2692 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2693 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2694 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2695 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2696 |
| c.*1368C>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2697 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2698 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2699 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2700 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2701 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2702 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2703 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2704 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2705 |
| c.*2556T>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2706 |
| c.*2657G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Unknown | 2707 |
| c.*2706G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Female | 2708 |
| c.*2956G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Male | 2709 |
| c.*3477G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2710 |
| c.*3477G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2711 |
| c.*3658C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-Autism | Unknown | 2712 |
| c.*3878G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2713 |
| c.*4576A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2714 |
| c.*5486_*5487dupAT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2715 |
| c.*7748C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2716 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2717 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2718 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2719 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2720 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2721 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2722 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2723 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2724 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2725 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2726 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2727 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2728 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2729 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2730 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2731 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2732 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2733 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Autism | Unknown | 2734 |
| c.*393G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2735 |
| c.*489G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2736 |
| c.*529G>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2737 |
| c.*806G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2738 |
| c.*831G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2739 |
| c.*875dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2740 |
| c.*1237T>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2741 |
| c.*3662A>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2742 |
| c.*4086_*4087delGT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2743 |
| c.*5839C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Unknown | 2744 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-classical | Female | 3049 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-atypical | Female | 3858 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation and autism | Female | 3859 |
| c.*1134G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-congenital | Female | 3860 |
| c.[*8500C>G];[*8503delC] | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 3861 |
| c.*8500C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3862 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3863 |
| c.*328G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3978 |
| c.*328G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3979 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4000 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4001 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4002 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4003 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4004 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4005 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4006 |
| c.*878C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4007 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4008 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4009 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4010 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4011 |
| c.*1737G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4012 |
| c.*3477G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4013 |
| c.*3477G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4014 |
| c.*3477G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4015 |
| c.*3878G>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4016 |
| c.*4576A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4017 |
| c.*4576A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4018 |
| c.*5486_*5487dupAT | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4019 |
| c.*7748C>T | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4020 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4021 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4022 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4023 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4024 |
| c.*7856A>C | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4025 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4026 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4027 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4028 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4029 |
| c.*8503delC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4030 |
| c.*8503dupC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4031 |
| c.*8503dupC | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 4032 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4043 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4048 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4049 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-autism | Unknown | 4201 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4202 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4203 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4204 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4205 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4206 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4207 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4208 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4209 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4210 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4211 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4212 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4213 |
| c.*9G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4214 |
| c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-autism | Unknown | 4215 |
| c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4216 |
| c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Male | 4217 |
| c.*92C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-classical | Female | 4300 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-sporadic mental retardation | Female | 4408 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-non Rett syndrome control | Female | 4409 |
| c.*14G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-not certain | Female | 5226 |
| c.*93G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5227 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5228 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5229 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 5230 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 5231 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 5232 |
| c.*14G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Not Rett synd.-unaffected family member | Female | 6666 |
| c.*14G>A | 3'UTR variation | 3'UTR variation | 3'UTR | Unknown | Rett syndrome-forme fruste | Female | 6665 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Rett syndrome-classical | Female | 6611 |
| c.*98dupA | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 6347 |
| c.-15C>T | 5'UTR variation | 5'UTR variation | 5'UTR | Unknown | Not Rett synd.-Unaffected family member | Female | 951 |
| c.-15C>T | 5'UTR variation | 5'UTR variation | 5'UTR | Unknown | Rett syndrome-Classical | Female | 950 |
| c.-206_-205delGC | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2551 |
| c.-187_-186delAG | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2552 |
| c.-187_-186delinsTT | p.(=) | 5'UTR variation | 5'UTR | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2553 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Rett syndrome-classcial | Female | 2913 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Rett syndrome-atypical | Female | 2914 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Rett syndrome-atypical | Female | 2915 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Female | 3983 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Male | 3984 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Male | 3985 |
| AY523575.1:g.1029dupC | 5'UTR variation | 5'UTR variation | 5'UTR | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Male | 3986 |
| c.1408_1411del4insTG | p.Asn470Trpfs*16 | combined frameshift insertion and deletion | C-term | Rett syndrome-not certain | Female | 5251 | |
| c.855_859del5ins12 | p.Ala287Lysfs*46 | combined frameshift insertion and deletion | C-term | Rett syndrome-not certain | Female | 5253 | |
| c.[1024_1025insAG;1029delG;1155_1209del55] | p.Proro342_Proro403delins44 | combined in-frame insertion and deletion | C-term | Rett syndrome-not certain | Female | 5246 | |
| c.820_1153del334ins67 | uncertain | combined in-frame insertion and deletion | TRD, C-term | Rett syndrome-not certain | Female | 5252 | |
| c.[27-?_1000+?dup(;)1100_1188del89] | p.[?(;)His367fs] | complex rearrangement, frameshift insertion or deletion | MBD, C-term | Rett syndrome-classical | Female | 3855 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-Not certain | Female | 1864 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-Not certain | Female | 1917 | |
| c.378-?_1337+?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-classical | Female | 2786 | |
| c.378-?_1185+?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-classical | Female | 2788 | |
| c.378-?_1337+?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-classical | Female | 2792 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3325 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3326 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3327 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3328 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3329 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3330 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3351 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-not certain | Female | 3352 | |
| c.378-?_*?del | p.Asn126fs | exon deletion | MBD | Rett syndrome-classical | Female | 3781 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Not certain | Female | 1820 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Not certain | Female | 1865 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Not certain | Female | 1918 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Not certain | Female | 1919 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2071 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2072 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Classical | Female | 2073 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Atypical | Female | 2075 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Classical | Female | 2076 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Atypical | Female | 2077 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2078 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2079 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2080 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Classical | Female | 2498 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Atypical | Female | 2500 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-Classical | Female | 2534 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2535 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2536 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-Classical | Female | 2537 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-classical | Female | 2783 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 2789 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 2791 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 2904 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 2908 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 2909 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3331 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3332 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3333 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3334 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3335 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3336 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3337 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3338 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3339 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3353 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-not certain | Female | 3611 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3615 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3616 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-not certain | Female | 3617 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 3767 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-classical | Female | 3769 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-classical | Female | 3770 | |
| c.-168-?_26+?del | p.Met1? | exon deletions | N-term | Rett syndrome-classical | Female | 3771 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 3775 | |
| c.27-?_*?del | p.Arg9fs | exon deletions | N-term | Rett syndrome-classical | Female | 3776 | |
| c.-168-?_26+?del (deletion exons 1 and 2) | p.Met1? | exon deletions | N-term | Rett syndrome-congenital | Female | 4600 | |
| c.631-?_657+?del | p.? | exonic deletion | MBD | Rett syndrome-classical | Female | 3786 | |
| c.27-?_*?del (deletion of exons 3 and 4) | p.Arg9? | exonic deletion | N-term | Rett syndrome-classical | Female | 4934 | |
| c.27-?_*?del (deletion of exons 3 and 4) | p.Arg9? | exonic deletion | N-term | Rett syndrome-classical | Female | 4935 | |
| c.-167_-99del | p.(=) | exonic deletions | N-term | Rett syndrome-atypical | Female | 3768 | |
| c.27-?_1018+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-classical | Female | 3772 | |
| c.27-?_1018+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-atypical | Female | 3773 | |
| c.27-?_1018+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-classical | Female | 3774 | |
| c.27-?_1397+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-classical | Female | 3777 | |
| c.27-?_1397+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-classical | Female | 3778 | |
| c.27-?_1397+?del | p.Arg9fs | exonic deletions | N-term | Rett syndrome-classical | Female | 3779 | |
| c.1017-?_1397+?del | p.? | exonic deletions | C-term | Rett syndrome-atypical | Female | 3780 | |
| c.1169-?_1170+?del | p.? | exonic deletions | C-term | Rett syndrome-classical | Female | 3782 | |
| c.1169-?_1397+?del | p.? | exonic deletions | C-term | Rett syndrome-classical | Female | 3783 | |
| c.1396-?_1397+?del | p.? | exonic deletions | C-term | Rett syndrome-classical | Female | 3784 | |
| c.1396-?_1397+?del | p.? | exonic deletions | C-term | Rett syndrome-classical | Female | 3785 | |
| c.-167_-99del | p.(=) | exonic deletions | N-term | Rett syndrome-atypical | Female | 5136 | |
| c.184-?_1065+?del | p.? | exonic deletions | MBD | Rett syndrome-classical | Female | 5137 | |
| c.1044-?_1442+?del | p.? | exonic deletions | C-term | Rett syndrome-atypical | Female | 5138 | |
| c.1044-?_1442+?del | p.? | exonic deletions | C-term | Rett syndrome-atypical | Female | 5139 | |
| c.[184-?_1065+?del; *5338_*5361+?del] | p.? | exonic deletions | C-term | Rett syndrome-classical | Female | 5140 | |
| c.631-?_657+?dup | p.? | exonic duplication | MBD | Unknown | Rett syndrome-preserved speech | Female | 3787 |
| c.1039_1195del157insGT | p.Lys347fs | Frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Female | 287 | |
| c.[1118_1300del183ins61];[1157_1197del41] | p.[Ser373fs];[Leu386fs] | frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Female | 1117 | |
| c.989_994delinsGCATCTTCTCCTCTTT | p.Glu330fs | Frameshift combined insertion and deletion | C-term | Rett syndrome-Classical | Unknown | 1203 | |
| c.1030_1195del166insGT | p.Arg344fs | frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Unknown | 1366 | |
| c.750_750delCinsTCAGGAAGCTT | p.Pro251fs | Frameshift combined insertion and deletion | TRD | Rett syndrome-Not certain | Female | 1380 | |
| c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] | p.Pro376fs | Frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Female | 1603 | |
| c.1265_1289del25insAGCGGCCG | p.Gly422fs | Frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Female | 1824 | |
| c.1161_1205del45insA | p.Pro389* | Frameshift combined insertion and deletion | C-term | Rett syndrome-Not certain | Female | 1856 | |
| c.748_753del6insGGCCG | p.Arg250fs | Frameshift combined insertion and deletion | TRD | Rett syndrome-Not certain | Female | 1872 | |
| c.611_612delinsAG | p.Ser204* | frameshift combined insertion and deletion | Inter-domain region | Rett syndrome-Not certain | Female | 1873 | |
| c.481_987del507ins8 | p.Gly161fs | frameshift combined insertion and deletion | MBD | Rett syndrome-Classical | Female | 2090 | |
| c.-131delinsGA | p.(=) | frameshift combined insertion and deletion | N-term | Rett syndrome-Classical | Female | 2497 | |
| c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) | p.Arg9fs | Frameshift combined insertion and deletion | N-term | Rett syndrome-Classical | Female | 2532 | |
| c.1162_1163delinsTA | p.Pro388* | frameshift combined insertion and deletion | C-term | Not Rett synd.-sporadic mental retardation | Female | 2659 | |
| c.1129_*568delinsCCGTGG | p.Lys377fs | frameshift combined insertion and deletion | C-term | Rett syndrome-not certain | Female | 3291 | |
| c.[1317_*623delins22; *796_*822del] | p.Ala439fs | frameshift combined insertion and deletion | C-term | Rett syndrome-not certain | Female | 3323 | |
| c.27-4722_*739delins43 | p.Arg9fs | frameshift combined insertion and deletion | N-term | Rett syndrome-not certain | Female | 3342 | |
| c.27-4722_*112delinsCACTTTGTG | p.Arg9fs | frameshift combined insertion and deletion | N-term | 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 | Rett syndrome-not certain | Female | 3344 | |
| c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) | p.Arg9fs | frameshift combined insertion and deletion | N-term | Rett syndrome-not certain | Female | 3349 | |
| c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] | p.Lys377fs | frameshift combined insertion and deletion | C-term | Rett syndrome-not certain | Female | 3356 | |
| c.1158_1186del29insCCA | p.Pro387Hisfs*9 | frameshift combined insertion and deletion | C-term | Rett syndrome-not certain | Female | 3610 | |
| c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | p.Pro389* | frameshift combined insertion and deletion | C-term | Not Rett synd.-ADHD, global developmental delay and OCD | Female | 5301 | |
| c.1276_*113del299ins3 | p.Ser426fs | frameshift combined insertion and deletion | C-term | Not Known | Female | 4421 | |
| c.736_743delinsGTG | p.Met246fs | frameshift combined insertion and deletion | TRD | Not Known | Female | 4479 | |
| c.1159_1160delCCinsT | p.Pro387fs | frameshift combined insertion and deletion | C-term | Not Rett synd.-mental retardation | Female | 4773 | |
| c.1159_1160delCCinsT | p.Pro387fs | frameshift combined insertion and deletion | C-term | Rett syndrome-atypical | Female | 4774 | |
| c.1159_1160delCCinsT | p.Pro387fs | frameshift combined insertion and deletion | C-term | Not Rett synd.-mild mental retardation | Female | 4775 | |
| c.1159_1160delCCinsT | p.Pro387fs | frameshift combined insertion and deletion | C-term | Rett syndrome-not certain | Male | 4776 | |
| c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] | p.His371Glyfs*7 | frameshift combined insertion and deletion | C-term | Rett syndrome-classical | Female | 4853 | |
| c.867_1223delinsA | p.Ser291Glnfs*26 | frameshift combined insertion and deletion | TRD, C-term | Rett syndrome-classical | Female | 4878 | |
| c.[584_624del41insTT; 638delTinsCA] | p.[Gly195_Gln208delinsVal; Leu213Profs*23] | frameshift combined insertion and deletion | inter-domain region, TRD | Rett syndrome-classical | Female | 4933 | |
| c.869_880delinsCACA | p.Glu290Alafs*38 | frameshift combined insertion and deletion | TRD, C-term | Rett syndrome-classical | Female | 5060 | |
| c.962_1267delinsG | p.Lys321Serfs*13 | frameshift combined insertion and deletion | C-term | Not Rett synd.-Rett-like | Female | 5133 | |
| c.1153_1190del | p.Pro385Glyfs*7 | frameshift combined insertion and deletion | C-term | Rett syndrome-classical | Female | 7039 | |
| c.1004_1173delinsCTGTGTAA | p.Gly335_Ser486delinsAlaVal | frameshift combined insertion and deletion | C-term | Rett syndrome-classical | Female | 7042 | |
| c.[27-5690_1208del7628ins42];[439G>A] | p.[Arg9fs];[Asp147Asn] | frameshift combined insertion and deletion, missense | N-term, MBD | Rett syndrome-classical | Female | 2906 | |
| c.-99+2_30delTG | intronic variant | Frameshift deletion | N-term | Rett syndrome-male variant | Male | 5327 | |
| c.1-?_26+?del (Deletion of exons 1 and 2) | p.Met1? | frameshift insertion of deletion | N-term | Rett syndrome-classical | Female | 2907 | |
| c.1235_1260del26 | p.Val412fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 2 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 14 | |
| c.1153_1190del38 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 18 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 21 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 22 | |
| c.710dupG | p.Gly238fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 32 | |
| c.748dupC | p.Arg250fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 33 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 34 | |
| c.856_859delAAAG | p.Lys286fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 35 | |
| c.1012_1202del191 | p.Thr338fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 36 | |
| c.[1038_1119del82; 1169_1339del171ins137] | p.Ser346fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 37 | |
| c.1154_1185del32 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Male variant | Male | 38 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 39 | |
| c.1160_1185del26 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 40 | |
| c.1160_1185del26 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 41 | |
| c.1160_1185del26 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 42 | |
| c.1164_1206del43 | p.Pro389fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 43 | |
| c.1454_1457del4 | p.Val485fs | Frameshift insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Female | 44 |
| c.258_259delCA | p.Ile87fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Female | 123 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 125 | |
| c.1163_1197del35 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 126 | |
| c.1364_1365insC | p.Glu455fs | Frameshift insertion or deletion | C-term | Rett syndrome-Congenital onset | Female | 127 | |
| c.601dupG | p.Ala201fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Not certain | Unknown | 135 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Unknown | 137 | |
| c.849_1236del388 | p.Lys284fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 138 | |
| c.785_818del34 | p.Gln262fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Unknown | 140 | |
| c.914_1172del259 | p.Lys305fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 143 | |
| c.375delC | p.Asn126fs | Frameshift insertion or deletion | MBD | Rett syndrome-Classical | Female | 185 | |
| c.695delG | p.Gly232fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 186 | |
| c.696delC | p.Lys233fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 187 | |
| c.756_759delCAGG | p.Arg253fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 188 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 189 | |
| c.439delG | p.Asp147fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Unknown | 254 | |
| c.731_1166del436 | p.Gln244fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 255 | |
| c.747_751dup5 | p.Pro251fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 256 | |
| c.1150_1192del43 | p.Pro384fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 257 | |
| c.1157_1187del31 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 258 | |
| c.1158_1200del43 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 259 | |
| c.1164_1206del43 | p.Pro389fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 260 | |
| c.1164_1206del43 | p.Pro389fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 261 | |
| c.720dupC | p.Thr241fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 285 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 308 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 309 | |
| c.431delA | p.Lys144fs | Frameshift insertion or deletion | MBD | Rett syndrome-Classical | Female | 331 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 342 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Preserved speech | Female | 347 | |
| c.1160_1200del41 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 348 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Preserved speech | Female | 349 | |
| c.1163_1197del35 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 367 | |
| c.753dupC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 369 | |
| c.[1157_1197del41; 1232_1240del9] | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 384 | |
| c.710dupG | p.Gly238fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 386 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 391 | |
| c.1155_1200del46 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 429 | |
| c.480_481delTG | p.Gly161fs | Frameshift insertion or deletion | MBD | Rett syndrome-Atypical | Female | 443 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 448 | |
| c.812_818del7 | p.Lys271fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 450 | |
| c.100_103delGATA | p.Asp34fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 468 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 472 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 482 | |
| c.1158_1167del10 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 949 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 946 | |
| c.677_678insA | p.Phe226fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 944 | |
| c.1156_1172del17 | p.Leu386* | frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 936 | |
| c.1194_1195insT | p.Pro399fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 933 | |
| c.1165_1190del26 | p.Pro389fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 929 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Forme fruste | Unknown | 918 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Unknown | 917 | |
| c.1151_1188del38 | p.Pro384fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Unknown | 915 | |
| c.1154_1197del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Forme fruste | Unknown | 916 | |
| c.1145_1194del50 | p.Leu382fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Unknown | 914 | |
| c.76delC | p.Leu26fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Unknown | 878 | |
| c.1101_1201del101 | p.His367fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 853 | |
| c.[1103_1172del; 1185_1191del] | p.His368fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 852 | |
| c.1159_1201del43 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 851 | |
| c.620dupT | p.Gln208fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Unknown | 843 | |
| c.167_168delCC | p.Pro56fs | Frameshift insertion or deletion | N-term | Not Known | Male | 1024 | |
| c.554delG | p.Gly185fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Not certain | Female | 1109 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1110 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1111 | |
| c.752_753dupCC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1112 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1113 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1114 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1115 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1119 | |
| c.[1163_1173del11; 1176_1193del18] | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1120 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1121 | |
| c.1308_1309delTC | p.Gln437fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1122 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1148 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Rett synd.-Angelman syndrome | Female | 1151 | |
| c.1159_1210del52 | p.Pro387fs | Frameshift insertion or deletion | C-term | Not Rett synd.-Angelman syndrome | Female | 1153 | |
| c.167_168delCC | p.Pro56fs | Frameshift insertion or deletion | N-term | Not Rett synd.-Angelman syndrome | Male | 1155 | |
| c.1158_1186del29 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Preserved speech | Female | 1179 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Preserved speech | Female | 1180 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Preserved speech | Female | 1181 | |
| c.753dupC | p.Gly252fs | Frameshift insertion or deletion | TRD | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1199 | |
| c.753dupC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 1200 | |
| c.345delC | p.Ser116fs | Frameshift insertion or deletion | MBD | Rett syndrome-Classical | Female | 1201 | |
| c.898_1099del202 | p.Val300fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 1202 | |
| c.[=/167_168delCC] | p.[=/Pro56fs] | Frameshift insertion or deletion | C-term | Not Rett synd.-not certain | Unknown | 1204 | |
| c.1127_1179del53 | p.Pro376fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1205 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1206 | |
| c.488_489delGG | p.Gly163fs | Frameshift insertion or deletion | Inter-domain region | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1239 | |
| c.488_489delGG | p.Gly163fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Classical | Female | 1240 | |
| c.531delA | p.Lys177fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Not certain | Female | 1247 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1252 | |
| c.880_884del5 | p.Arg294fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1254 | |
| c.1099_1118del20 | p.His367fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1255 | |
| c.1121_1191del71 | p.Glu374fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1256 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1257 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1258 | |
| c.1167_1200del34 | p.Pro390fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1259 | |
| c.201delG | p.Ser68fs | Frameshift insertion or deletion | N-term | Rett syndrome-Not certain | Unknown | 1357 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 1358 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 1359 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Unknown | 1360 | |
| c.1163_*39del338 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1362 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1363 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1364 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1365 | |
| c.1096_1201del106 | p.His366fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1368 | |
| c.1132_1202del71 | p.Ala378fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1369 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1379 | |
| c.696delC | p.Lys233fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 1423 | |
| c.710dupG | p.Gly238fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 1424 | |
| c.736_737insAT | p.Met246fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 1425 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 1426 | |
| c.1160_1188del29 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1427 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1428 | |
| c.1200dupC | p.Ser401fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1429 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 1452 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1455 | |
| c.1152_1195del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1456 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1457 | |
| c.35_42dup | p.Asp15fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 1458 | |
| c.566delG | p.Gly189fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Classical | Female | 1468 | |
| c.1116_1201del86 | p.His372fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1477 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1478 | |
| c.411delG | p.Glu137fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Unknown | 1484 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 1495 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1496 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Rett synd.-X-linked mental retardation | Female | 1497 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 1498 | |
| c.1190dupA | p.Asp398fs | Frameshift insertion or deletion | C-term | Rett syndrome-classical | Unknown | 1524 | |
| c.100_103delGATA | p.Asp34fs | Frameshift insertion or deletion | N-term | Rett syndrome-classical | Unknown | 1525 | |
| c.451delG | p.Asp151fs | Frameshift insertion or deletion | MBD | Rett syndrome-atypical | Unknown | 1526 | |
| c.1127_1179del53 | p.Pro376fs | Frameshift insertion or deletion | C-term | Rett syndrome-atypical | Unknown | 1527 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 1545 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Rett synd.-Unaffected family member | Female | 1546 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 1560 | |
| c.422dupA | p.Tyr141* | Frameshift insertion or deletion | MBD | Not Known | Female | 1561 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1594 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1598 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1606 | |
| c.856_859delAAAG | p.Lys286fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1607 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1611 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1618 | |
| c.898_904del7 | p.Val300fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1620 | |
| c.428_429insT | p.Glu143fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Female | 1641 | |
| c.1271_1416del146 | p.Leu424fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1662 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1668 | |
| c.1194_1195insT | p.Pro399fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1670 | |
| c.764_765ins8 | p.Arg255fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1671 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Female | 1680 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Not Known | Female | 1693 | |
| c.1105delC | p.His369fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1695 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1698 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Female | 1702 | |
| c.1330_1342del13 | p.Ala444fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1711 | |
| c.229_238del10 | p.Ala77fs | Frameshift insertion or deletion | N-term | Not Known | Female | 1713 | |
| c.1338_1354del | p.Ala447fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1716 | |
| c.1324_1364del41 | p.Thr442fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1721 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1734 | |
| c.1129_1193del65 | p.Lys377fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1736 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1741 | |
| c.1157_1191del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1742 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Female | 1744 | |
| c.1157_1191del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1754 | |
| c.854dupA | p.Lys286fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1758 | |
| c.249_250ins7 | p.Arg84fs | Frameshift insertion or deletion | MBD | Not Known | Female | 1766 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1768 | |
| c.651_652delTG | p.Gly218fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1774 | |
| c.1157_1191del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1776 | |
| c.1157_1191del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1780 | |
| c.715delG | p.Ala239fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1787 | |
| c.710dupG | p.Gly238fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1795 | |
| c.864dupG | p.Lys289fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1799 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Female | 1812 | |
| c.1157_1191del35 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 1814 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Not Known | Female | 1815 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1834 | |
| c.470dupT | p.Thr158fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Female | 1839 | |
| c.856_859delAAAG | p.Lys286fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1841 | |
| c.1160_1200del41 | p.Pro387fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1842 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1843 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1848 | |
| c.108_111delAGAA | p.Glu37fs | Frameshift insertion or deletion | N-term | Rett syndrome-Not certain | Female | 1857 | |
| c.1123_1202del80 | p.Ser375fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1863 | |
| c.748dupC | p.Arg250fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1866 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1870 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Not certain | Female | 1871 | |
| c.108_111delAGAA | p.Glu37fs | Frameshift insertion or deletion | N-term | Rett syndrome-Not certain | Female | 1876 | |
| c.483delG | p.Arg162fs | Frameshift insertion or deletion | MBD | Rett syndrome-Not certain | Female | 1888 | |
| c.792_793delTC | p.Pro265fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1895 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1896 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 1897 | |
| c.1012_1193del182 | p.Thr338fs | Frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1907 | |
| c.-167_-99del | p.(=) | frameshift insertion or deletion | N-term | Unknown | Rett syndrome-Not certain | Female | 1916 |
| c.315dupA | p.Arg106fs | Frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 1923 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-atypical | Female | 1926 | |
| c.739delG | p.Val247fs | Frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 1930 | |
| c.1163_1188del26 | p.Pro388fs | Frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 1940 | |
| c.755delG | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-atypical | Female | 1951 | |
| c.695delG | p.Gly232fs | Frameshift insertion or deletion | TRD | Rett syndrome-atypical | Female | 1952 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 1965 | |
| c.-168-?_*?del | p.Met1? | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 1980 | |
| c.567dupA | p.Arg190fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Not certain | Female | 1969 | |
| c.567dupA | p.Arg190fs | Frameshift insertion or deletion | Inter-domain region | Not Known | Female | 1970 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1981 | |
| c.1135_1142delCCCGTGCC | p.Pro379fs | Frameshift insertion or deletion | C-term | Not Rett synd.-Sporadic mental retardation | Female | 2000 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 2008 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Female | 2010 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 2014 | |
| c.1155_1200del46 | p.Leu386fs | Frameshift insertion or deletion | C-term | Not Known | Female | 2021 | |
| c.752_753dupCC | p.Gly252fs | frameshift insertion or deletion | TRD | Not Known | Male | 2047 | |
| c.1163_1179del17 | p.Pro388fs | Frameshift insertion or deletion | C-term | Not Known | Female | 2050 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Not Known | Male | 2060 | |
| c.-167_-99del | p.(=) | frameshift insertion or deletion | N-term | Unknown | Rett syndrome-Atypical | Female | 2074 |
| c.27-?_(378_1461)del | p.Arg9fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2081 | |
| c.27-?_(378_1461)del | p.Arg9fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2082 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Classical | Female | 2083 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Classical | Female | 2084 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Atypical | Female | 2085 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Classical | Female | 2086 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Not certain | Female | 2087 | |
| [c.897C>T (+) c.(378_1461)_(378_1461)del] | [p.Thr299Thr (+) p.(Asn126+Ser486)fs] | Frameshift insertion or deletion | Not known | Rett syndrome-Classical | Female | 2088 | |
| c.617delG | p.Gly206fs | Frameshift insertion or deletion | Inter-domain region | Rett syndrome-Classical | Female | 2091 | |
| c.695delG | p.Gly232fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2092 | |
| c.710delG | p.Gly237fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2093 | |
| c.753delC | p.Gly252fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2094 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2095 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Not certain | Female | 2096 | |
| c.806delG | p.Gly269fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2097 | |
| c.1097_1203del107 | p.His366fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2098 | |
| c.1116_1201del86 | p.His372fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2099 | |
| c.126dupG | p.His43fs | Frameshift insertion or deletion | N-term | Rett syndrome-Atypical | Female | 2100 | |
| c.654_657delGAAG | p.Lys219fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2103 | |
| c.856_859delAAAG | p.Lys286fs | Frameshift insertion or deletion | TRD | Rett syndrome-Atypical | Female | 2104 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2107 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2108 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2109 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2110 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2111 | |
| c.1157_1200del44 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2112 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2113 | |
| c.1157_1197del41 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2114 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2115 | |
| c.1157_1188del32 | p.Leu386fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2116 | |
| c.1223_1265del43 | p.Leu408fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2117 | |
| c.1052_1200del149 | p.Pro351fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2179 | |
| c.1154_1197del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2180 | |
| c.1152_1195del44 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2181 | |
| c.1152_1155del4 | p.Pro385fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2182 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2184 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2185 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2186 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2187 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2188 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2189 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2190 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2287 | |
| c.808delC | p.Arg270fs | Frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2288 | |
| c.994_1346del353 | p.Ser332fs | Frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 2335 | |
| c.994_998delAGCGG | p.Ser332fs | Frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 2336 | |
| c.91delG | p.Val31* | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2365 | |
| c.311_323del13 | p.Trp104fs | Frameshift insertion or deletion | MBD | Rett syndrome-Atypical | Female | 2366 | |
| c.1164_1207del44 | p.Pro389* | Frameshift insertion or deletion | C-term | Not Known | Female | 2487 | |
| c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Frameshift insertion or deletion | Not known | Rett syndrome-Atypical | Female | 2499 | |
| c.856_859delAAAG | p.Lys286fs | Frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2501 | |
| c.27-12521_*5072del19784 | p.Arg9fs | Frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2531 | |
| c.651_652delTG | p.Gly218fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 2542 | |
| c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] | p.[Ala378fs];[Ala378fs] | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 2544 | |
| c.189_190delGA | p.Glu63fs | frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2564 | |
| c.753dupC | p.Gly252fs | frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2598 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2604 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-Classical | Female | 2605 | |
| c.816_832del17 | p.Gly273fs | frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2609 | |
| c.856_859delAAAG | p.Lys286fs | frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 2610 | |
| c.[1063_1188del126; 1189_1231inv; 1232_1236del5] | p.Ser355fs | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2621 | |
| c.1116_1201del86 | p.His372fs | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2623 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2624 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2625 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2627 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2628 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2629 | |
| c.27-?_*8554+?del (deletion of exons 3 and 4) | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-Classical | Female | 2644 | |
| c.1101_1396+?del (deletion of exon 4 near stop codon) | p.His367fs | frameshift insertion or deletion | c-term | Rett syndrome-Classical | Female | 2645 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-male variant | Male | 2755 | |
| c.-113_-106dup | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2756 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 2770 | |
| c.-102_-101delGA | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2781 | |
| c.27-?_1337+?del | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2782 | |
| c.27-?_1337+?del | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2784 | |
| c.27-?_1185+?del | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2785 | |
| c.27-?_1337+?del | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2787 | |
| c.1336-?_*?del | p.? | frameshift insertion or deletion | N-term/MBD/interdomain/TRD/NLS/C-term | Rett syndrome-classical | Female | 2790 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 2793 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 2794 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 2797 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 2798 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-atypical | Female | 2801 | |
| c.-138_-134dupCGCCG | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2802 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2803 | |
| c.1154_1197del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 2829 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 2861 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-preserved speech | Female | 2862 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-preserved speech | Female | 2863 | |
| c.830delC | p.Ala277fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 2882 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-preserved speech | Female | 2884 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-forme fruste | Female | 2885 | |
| c.1151_1191del41 | p.Pro384fs | frameshift insertion or deletion | C-term | Rett syndrome-preserved speech | Female | 2886 | |
| c.734_759del26 | p.Val245fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 2887 | |
| c.756_763dup | p.Arg255fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 2888 | |
| c.898_901del | p.Val300fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 2890 | |
| c.710dupG | p.Gly238fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 2896 | |
| c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2905 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Rett synd.-autism only | Female | 2910 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-atypical | Female | 2916 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 2928 | |
| c.-167_-99del | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 2929 | |
| c.215dupC | p.Ala73fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 2930 | |
| c.1057_1219del163 | p.Gly353fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 2949 | |
| c.1154_1197del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 2950 | |
| c.1194_1195insT | p.Pro399fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 2953 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-atypical | Female | 2968 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 2971 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 2972 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 2973 | |
| c.-98-?_377+?del (deletion of exons 2 and 3) | p.Met1? | frameshift insertion or deletion | N-term | Rett syndrome-atypical | Female | 2975 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3007 | |
| c.874_875insA | p.Ser292fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3008 | |
| c.1154_1197del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3009 | |
| c.[1158_1167del10; 1173_1188del16] | p.Pro387Hisfs*9 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3010 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3011 | |
| c.140dupA | p.Pro48fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 3035 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3046 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3047 | |
| c.1163_1188del26 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3062 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3063 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3064 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3065 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3066 | |
| c.107_113del7 | p.Lys36fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3255 | |
| c.117dupA | p.Glu40fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3256 | |
| c.215_216insT | p.Ala73fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3257 | |
| c.382_1189del808 | p.Gln128fs | frameshift insertion or deletion | MBD | Rett syndrome-not certain | Female | 3258 | |
| c.475delG | p.Val159* | frameshift insertion or deletion | MBD | Rett syndrome-not certain | Female | 3259 | |
| c.480delT | p.Arg162fs | frameshift insertion or deletion | MBD | Rett syndrome-not certain | Female | 3260 | |
| c.608_609insA | p.Ser204fs | frameshift insertion or deletion | inter-domain region | Rett syndrome-not certain | Female | 3262 | |
| c.676_677insA | p.Phe226fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3263 | |
| c.676_677insA | p.Phe226fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3264 | |
| c.696delC | p.Lys233fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3265 | |
| c.711_1269del559 | p.Gly238fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3266 | |
| c.748_749insT | p.Arg250fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3267 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3268 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3269 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3270 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3271 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3272 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3273 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3274 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3275 | |
| c.830_831ins23 | p.Ala277fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3277 | |
| c.851_1188del338 | p.Lys284fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3278 | |
| c.856_859delAAAG | p.Lys286fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3279 | |
| c.865_866delAA | p.Lys289fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3280 | |
| c.883delT | p.Ser295fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3281 | |
| c.898delG | p.Val300fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3282 | |
| c.906delC | p.Ile303fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3283 | |
| c.1009_1027del19 | p.Lys337fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3284 | |
| c.1046_1206del161 | p.Ser349fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3285 | |
| c.1078_*2524del2908 | p.Ser360fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3286 | |
| c.1105_1225del121 | p.His369fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3287 | |
| c.[1105_1116del12; 1152_1195del44] | p.[His369_His372del; Pro385fs] | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3288 | |
| c.1127_1137del11 | p.Pro376fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3289 | |
| c.1127_1137del11 | p.Pro376fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3290 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3292 | |
| c.1155_1200del46 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3293 | |
| c.1155_1183del29 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3294 | |
| c.[1159_1174del16; 1205_1432del228] | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3295 | |
| c.1156_1172del17 | p.Leu386* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3296 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3297 | |
| c.1157_1199del43 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3301 | |
| c.1156_1157dupCT | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3302 | |
| c.1158_1167del10 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3303 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3304 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3305 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3306 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3307 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3308 | |
| c.1157_*944del1249 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3309 | |
| c.1158_1200del43 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3310 | |
| c.1163_1197del35 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3311 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3315 | |
| c.1163_1179del17 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3316 | |
| c.1163_1188del26 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3317 | |
| c.1165_1190del26 | p.Pro389fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3318 | |
| c.1164delA | p.Pro389fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3319 | |
| c.1165_1190del26 | p.Pro389fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3320 | |
| c.[1197_1237inv; 1238_1266del] | p.Thr400fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3321 | |
| c.1202dupG | p.Ser401fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3322 | |
| c.1454_1457del4 | p.Val485fs | frameshift insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3324 |
| c.27-96_1205del (deletion of exon 3 and 4) | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3340 | |
| c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] | p.Gly335fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3341 | |
| c.27-3928_1184del (deletion of exons 3 and 4) | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3345 | |
| c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] | p.Val316fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3346 | |
| c.[27-5862_1132del; 1157_1197del] | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3347 | |
| c.[27-5944_1132del; 1157_1197del] | p.Arg9fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3348 | |
| c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3350 | |
| c.856_859delAAAG | p.Lys286fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3355 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3357 | |
| c.1145_1194del50 | p.Leu382fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3358 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3359 | |
| c.1163_1188del26 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-forme fruste | Female | 3379 | |
| c.766_779dup14 | p.Asp260fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3380 | |
| c.76delC | p.Leu26fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 3383 | |
| c.695delG | p.Gly232fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3409 | |
| c.1197dupC | p.Thr400fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3410 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3411 | |
| c.470_471delTC | p.Phe157fs | frameshift insertion or deletion | MBD | Rett syndrome-preserved speech | Female | 3412 | |
| c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] | p.Glu348fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3413 | |
| c.[1051_1065del15; 1088_1115del28; 1138_1207del70] | p.[Pro351_Ser355del; Lys363fs] | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3414 | |
| c.1164_1206del43 | p.Pro389fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3415 | |
| c.1158_1198del41 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3416 | |
| c.1158_1198del41 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3417 | |
| c.1057_1219del163 | p.Gly353fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3507 | |
| c.1154_1197del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3508 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3509 | |
| c.1157_1187del31 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3510 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3511 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3512 | |
| c.1160_1180del21 | p.Pro387_Glu394delinsGln | frameshift insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3513 |
| c.894_1095del202 | p.Glu298fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3519 | |
| c.1127_1179del53 | p.Pro376fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3520 | |
| c.1196_1266del71 | p.Pro399fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3522 | |
| c.119_120delAG | p.Glu40fs | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 3596 | |
| c.710delG | p.Gly237fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3597 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3598 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3599 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3600 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3601 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3602 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3603 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 3604 | |
| c.881_902del22 | p.Arg294fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3605 | |
| c.1127_1179del53 | p.Pro376fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3608 | |
| c.1152_1195del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3609 | |
| c.27-?_1021+?del (deletion of exons 3 and start of exon 4) | p.Arg9fs | frameshift insertion or deletion | N-term | 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 | 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 | Rett syndrome-not certain | Female | 3614 | |
| c.378-?_1170+?del | p.Asn126fs | frameshift insertion or deletion | MBD | Rett syndrome-not certain | Female | 3618 | |
| c.1169-?_*?del | p.Pro390fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3619 | |
| c.1048_1199del152 | p.Ser350fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 3621 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3743 | |
| c.107_108delAA | p.Lys36fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 3744 | |
| c.543_544delTC | p.Pro182fs | frameshift insertion or deletion | inter-domain region | Rett syndrome-classical | Female | 3745 | |
| c.1450_1453delAGAG | p.Arg484fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3746 | |
| c.1163_1197del35 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 3747 | |
| c.1115_1326del212 | p.His372fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 3748 | |
| c.243dupC | p.Lys82fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 3750 | |
| c.1197dupC | p.Thr400fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 3751 | |
| c.1320dupT | p.Ala441fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 3752 | |
| c.233delC | p.Ser78fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 3753 | |
| c.375delC | p.Asn126fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 3754 | |
| c.695delG | p.Gly232fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3755 | |
| c.696delC | p.Lys233fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3756 | |
| c.756_759delCAGG | p.Arg253fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3757 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-NK | Female | 3758 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-NK | Female | 3759 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-NK | Female | 3760 | |
| c.1132_1202del71 | p.Ala378fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 3761 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3765 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 3766 | |
| c.856_859delAAAG | p.Lys286fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 3793 | |
| c.378-3_383del9 | p.Asn126Lysfs*11 | frameshift insertion or deletion | MBD | Not Rett synd.-Severe congenital encephalopathy | Male | 3827 | |
| c.119_120delAG | p.Glu40fs | frameshift insertion or deletion | N-term | Not Rett synd.-neonatal encephalopathy | Male | 3869 | |
| c.1151_1188del38 | p.Pro384fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3870 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3871 | |
| c.810_813delAAAG | p.Lys271fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3872 | |
| c.869dupA | p.Ser291fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 3912 | |
| c.1455_1456dupTA | p.Ser486fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 3914 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-unaffected family member | Female | 3982 | |
| c.[=/808delC] | p.[=/Arg270fs] | frameshift insertion or deletion | TRD-NLS | Not Rett synd.-unaffected family member | Male | 3988 | |
| c.710delG | p.Gly237fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 4070 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 4071 | |
| c.484dupA | p.Arg162fs | frameshift insertion or deletion | inter-domain region | Rett syndrome-classical | Female | 4084 | |
| c.495delC | p.Ser166fs | frameshift insertion or deletion | inter-domain region | Not Known | Female | 4102 | |
| c.755dupG | p.Arg253fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 4103 | |
| c.755dupG | p.Arg253fs | frameshift insertion or deletion | TRD | Rett syndrome-male variant | Male | 4104 | |
| c.819delG | p.Ser274fs | frameshift insertion or deletion | TRD | Not Known | Female | 4105 | |
| c.1128_1179del52 | p.Lys377fs | frameshift insertion or deletion | C-term | Not Known | Female | 4106 | |
| c.1162_1163delCC | p.Pro388fs | frameshift insertion or deletion | C-term | Not Known | Female | 4107 | |
| c.710delG | p.Gly237fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 4182 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-autism | Female | 5300 | |
| c.1142_1227del86 | p.Pro381fs | frameshift insertion or deletion | C-term | Rett syndrome-male variant | Male | 4219 | |
| c.1142_1227del86 | p.Pro381fs | frameshift insertion or deletion | C-term | Rett syndrome-male variant | Male | 4220 | |
| c.1142_1227del86 | p.Pro381fs | frameshift insertion or deletion | C-term | Not Rett synd.-unaffected family member | Female | 4221 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 4224 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-male variant | Male | 4225 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4308 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4316 | |
| c.695dupG | p.Lys233fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 4317 | |
| c.669_686conAL078639.5:g.94544_94611 | p.Lys223Asnfs*12 | frameshift insertion or deletion | TRD, TRD-NLS, C-term | Rett syndrome-not certain | Female | 4318 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 4343 | |
| c.1160_1166del7 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-Classical | Female | 4344 | |
| c.326dupA | p.Gln110fs | frameshift insertion or deletion | MBD | Rett syndrome-Classical | Female | 4347 | |
| c.420delG | p.Tyr141fs | frameshift insertion or deletion | MBD | Rett syndrome-Classical | Female | 4362 | |
| c.566dupG | p.Arg190fs | frameshift insertion or deletion | inter-domain region | Rett syndrome-Classical | Female | 4374 | |
| c.696delC | p.Lys233fs | frameshift insertion or deletion | TRD | Rett syndrome-Classical | Female | 4376 | |
| c.1452_1453dup | p.Val485fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 4392 | |
| c.1152_1195del44 | p.Pro385fs | frameshift insertion or deletion | C-term | Not Known | Female | 4411 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Known | Female | 4412 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Known | Female | 4413 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Known | Female | 4414 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Known | Female | 4415 | |
| c.1163_1188del26 | p.Pro388fs | frameshift insertion or deletion | C-term | Not Known | Female | 4416 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Known | Male | 4417 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Known | Female | 4418 | |
| c.1170_1207del38 | p.Pro391* | frameshift insertion or deletion | C-term | Not Known | Female | 4419 | |
| c.1214_1230del17 | p.Pro405fs | frameshift insertion or deletion | C-term | Not Known | Female | 4420 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Not Known | Female | 4445 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Not Known | Male | 4446 | |
| c.56dupA | p.Leu21fs | frameshift insertion or deletion | N-term | Not Known | Female | 4470 | |
| c.689_756del68 | p.Pro230fs | frameshift insertion or deletion | TRD | Not Known | Female | 4478 | |
| c.752_753dupCC | p.Gly252fs | frameshift insertion or deletion | TRD | Not Known | Female | 4480 | |
| c.834_939del106 | p.Ala279fs | frameshift insertion or deletion | TRD | Not Known | Female | 4497 | |
| c.710delG | p.Gly237fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 4706 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 4707 | |
| c.[1121_1311del191; 1326_1334del9] | p.Glu374fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4708 | |
| c.1157_1188del32 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4709 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4710 | |
| c.1160_1166del7 | p.Pro387fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4711 | |
| c.1163_1197del35 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4712 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 4770 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 4771 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 4772 | |
| c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 4777 | |
| c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | frameshift insertion or deletion | N-term | Rett syndrome-not certain | Female | 4778 | |
| c.50dupA | p.Asp17fs | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 4789 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-slight cognitive delay, no regression known, moderate mental retardation | Female | 4790 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-moderate mental retardation, does not meet any RTT criteria, significant behavioural problems | Female | 4791 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-progressive neurodevelopmental problems, seizures at 2y, no purposeful hand use, regression of motor skills | Male | 4792 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-deceleration of head growth at 2 month, loss of gross motor skills by 7 y, some stereotypic movements | Male | 4793 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 4794 | |
| c.[602C>T(;) 1157_1197del41] | p.[Ala201Val(;) Leu386fs] | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 4805 | |
| c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) | p.Arg9? | frameshift insertion or deletion | N-term | Rett syndrome-congenital | Female | 4827 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 4850 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 4856 | |
| c.1164_1194del31 | p.Pro391fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 4857 | |
| c.1028_1158del | p.Gly343Alafs*6 | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 4890 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 4915 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 4922 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 4931 | |
| c.318_321dup | p.Leu108fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 4932 | |
| c.1233_1243del11 | p.Ser411fs | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.- | Male | 4966 |
| c.1233_1243del11 | p.Ser411fs | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-learning disability | Female | 4967 |
| c.767_1175del409 | p.Lys256Serfs*17 | frameshift insertion or deletion | TRD-NLS, C-term | Rett syndrome-classical | Female | 5062 | |
| c.1101_1201del101 | p.His367fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 5063 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 5064 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-not certain | Female | 5065 | |
| c.710dupG | p.Gly238fs | frameshift insertion or deletion | TRD | Rett syndrome-not certain | Female | 5066 | |
| c.1180_1181insT | p.Glu394Valfs*11 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 5110 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 5121 | |
| c.-113_-106del8 | p.(=) | frameshift insertion or deletion | N-term | Not Rett synd.-Rett-like | Female | 5122 | |
| c.[1123_1189del;1249_1270del] | p.Ser375Argfs*12 | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 5134 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Not Rett synd.-Rett-like | Female | 5135 | |
| c.[1089_1129del41;1156_1197del42] | p.Lys364Glyfs*13 | frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 5245 | |
| c.1168_1173del6 | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-mental retardation | Female | 6865 | |
| c.1163_1200del38 | p.Pro388Glnfs*4 | frameshift insertion or deletion | C-term | Rett syndrome-preserved speech | Female | 6754 | |
| c.1157_1197del41 | p.Leu386Hisfs*5 | frameshift insertion or deletion | C-term | Rett syndrome-atypical | Female | 6753 | |
| c.1157_1197del41 | p.Leu386Hisfs*5 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6752 | |
| c.857_858dupAA | p.Ala287Lysfs*3 | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6748 | |
| c.820_823dupAGTG | p.Val275Glufs*57 | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6747 | |
| c.806delG | p.Gly269Alafs*20 | frameshift insertion or deletion | NLS | Rett syndrome-preserved speech | Female | 6744 | |
| c.573delC | p.Ser194Alafs*16 | frameshift insertion or deletion | Inter-domain region | Rett syndrome-congenital onset | Female | 6738 | |
| c.[1104_1106del3(;) 1157_1197del41] | p.[His372del(;) Leu386fs] | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6676 | |
| c.[1161_1166del6; 1180_1205del26] | p.[Pro390_Pro391del; Glu394fs] | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6675 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-X linked mental retardation | Male | 6673 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-not certain | Female | 6674 | |
| c.1085_1197del113 | p.Pro362fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6671 | |
| c.1053_1156del104 | p.Lys352fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6672 | |
| c.1105delC | p.His369fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6670 | |
| c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 6669 | |
| c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 6668 | |
| c.753_754dup | p.Gly252fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6667 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-forme fruste | Female | 6664 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6663 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 6662 | |
| c.1164_1207del44 | p.Pro389* | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6661 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6660 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6659 | |
| c.1157_1200del44 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6658 | |
| c.1157_1184del28 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6656 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-forme fruste | Female | 6655 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6654 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-forme fruste | Female | 6653 | |
| c.1157_1197del41 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6652 | |
| c.1157_1199del43 | p.Leu386fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6651 | |
| c.1168_1173del6 | p.Pro390_Pro391del | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-mild mental retardation | Female | 6650 |
| c.1168_1173del6 | p.Pro390_Pro391del | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-mild mental retardation | Female | 6649 |
| c.1168_1173del6 | p.Pro390_Pro391del | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 6648 |
| c.1168_1173del6 | p.Pro390_Pro391del | frameshift insertion or deletion | C-term | Unknown | Not Rett synd.-x-linked mental retardation | Male | 6647 |
| c.1163_1188del26 | p.Pro388fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6646 | |
| c.1173_1207del35 | p.Glu392* | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6645 | |
| c.1324_1364del41 | p.Thr442fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6644 | |
| c.1197dupC | p.Thr400fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6643 | |
| c.226delG | p.Glu76fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 6641 | |
| c.1308_1309delTC | p.Gln437fs | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 6642 | |
| c.229_238del10 | p.Ala77fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 6640 | |
| c.1147_1174del28 | p.Leu383fs | frameshift insertion or deletion | C-term | Not Rett synd.-mental retardation | Female | 6639 | |
| c.506_507dupAG | p.Gln170fs | frameshift insertion or deletion | Inter-domain | Not Rett synd.-inf enceph | Male | 6638 | |
| c.478dupA | p.Thr160fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 6637 | |
| c.390dupA | p.Ala131fs | frameshift insertion or deletion | MBD | Rett syndrome-classical | Female | 6636 | |
| c.695dupG | p.Lys233fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6635 | |
| c.842_843insT | p.Glu282fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6634 | |
| c.710dupG | p.Gly238fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6633 | |
| c.710delG | p.Gly237fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6632 | |
| c.829delG | p.Ala277fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6631 | |
| c.856_859delAAAG | p.Lys286fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6630 | |
| c.863_881del19 | p.Val288fs | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 6629 | |
| c.-114_-104del11 | p.(=) | frameshift insertion or deletion | exon 1 | Not Rett synd.-mental retardation | Female | 6628 | |
| c.-114_-104dup11 | p.(=) | frameshift insertion or deletion | exon 1 | Rett syndrome-classical | Female | 6624 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6610 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6609 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6608 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Not Rett synd.- | Male | 6607 | |
| c.806delG | p.Gly269fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6606 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6605 | |
| c.808delC | p.Arg270fs | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 6604 | |
| c.-138_-134dup | p.(=) | frameshift insertion or deletion | N-term | Rett syndrome-classical | Male | 6993 | |
| c.1410_1411delCA | p.Asn470Lysfs*16 | frameshift insertion or deletion | Rett syndrome-atypical | Male | 7005 | ||
| c.1410_1411delCA | p.Asn470Lysfs*16 | frameshift insertion or deletion | Rett syndrome-atypical | Male | 7006 | ||
| c.1410_1411delCA | p.Asn470Lysfs*16 | frameshift insertion or deletion | Not Rett synd.-not certain | Female | 7007 | ||
| c.1410_1411delCA | p.Asn470Lysfs*16 | frameshift insertion or deletion | Not Rett synd.-not certain | Female | 7008 | ||
| c.1384-1385del GT | p.Val462Phefs*24 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 7022 | |
| c.164_182del | p.Pro56GlnfsTer63 | frameshift insertion or deletion | N-term | Rett syndrome-classical | Female | 7025 | |
| c.1148_1193del | p.Leu383Profs*11 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 7026 | |
| c.717del C | p.Thr240Profs*8 | frameshift insertion or deletion | TRD | Rett syndrome-classical | Female | 7027 | |
| c.806del G | p.Gly269Alafs*20 | frameshift insertion or deletion | TRD-NLS | Rett syndrome-classical | Female | 7028 | |
| c.1132_1207del77 | p.Ala378Leufs*6 | frameshift insertion or deletion | C-term | Rett syndrome-classical | Female | 7029 | |
| c.[806delG(;) *8C>T] | p.Gly269fs | frameshift insertion or deletion, 3'UTR variation | TRD-NLS, 3'UTR | Rett syndrome-Classical | Female | 446 | |
| c.[276_277insG(;) 1162_1179del18] | p.[Pro94fs(;) Pro388_Pro393del] | frameshift insertion or deletion, in-frame insertion or deletion | MBD, C-term | Rett syndrome-not certain | Female | 4713 | |
| c.[678delT];[378-109A>G;518C>G] | p.[Gln227Lysfs*21];[Pro173Arg] | frameshift insertion or deletion, intronic variation, missense | TRD, intronic, inter-domain region | Rett syndrome-not certain | Female | 5238 | |
| c.[1373G>A; 1448_*29del43] | p.[Arg458His; Glu483fs] | frameshift insertion or deletion, missense | c-term | Rett syndrome-not certain | Female | 3875 | |
| c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] | p.[Ser360del(;) Pro381Leu(;) Leu386fs] | frameshift insertion or deletion, missense | C-term | Rett syndrome-classical | Female | 4902 | |
| c.1415_1416delAG | p.Glu472fs | frameshift insertion ord deletion | C-term | Not Rett synd.-X-linked mental retardation | Male | 3019 | |
| c.1165_1233del69ins21 | p.Pro389_Pro411del23ins7 | In-frame combined insertion and deletion | C-term | Unknown | Rett syndrome-Classical | Female | 350 |
| c.[1053_1054ins10; 1145_1199del55] | p.Lys352fs | in-frame combined insertion and deletion | C-term | Rett syndrome-Not certain | Unknown | 855 | |
| c.1043_1173del131insTG | p.Glu348_Pro391delinsVal | In-frame combined insertion and deletion | C-term | Unknown | Rett syndrome-Not certain | Female | 1381 |
| c.906_1138del233insAC | p.Ile303_Val380delinsLeu | in-frame combined insertion and deletion | TRD, C-term | Rett syndrome-not certain | Female | 3620 | |
| c.763_1383del621ins15 | p.Arg255_Ile461delins5 | in-frame combined insertion and deletion | TRD, TRD-NLS, C-term | Not Known | Female | 4481 | |
| c.943_1140del198ins6 | p.Glu315_Val380delins2 | in-frame combined insertion and deletion | C-term | Not Known | Female | 4513 | |
| c.1160_1200del41insAGGGGTGG | p.Pro387_Thr400delinsGlnGlyTrp | in-frame combined insertion and deletion | C-term | Unknown | Rett syndrome-classical | Female | 4854 |
| c.1168_1173del6 | p.Pro390_Pro391del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 4 |
| c.1104_1106del3 | p.His372del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Female | 23 |
| c.1156_1200del45 | p.Leu386_Thr400del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Female | 286 |
| c.1450_*12del24 | p.Val485_Ser486delins21 | In-frame insertion or deletion | C-term | Rett syndrome-Atypical | Female | 406 | |
| c.1403_1408del6 | p.Arg468_Pro469del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Classical | Female | 466 |
| c.1163_1216del54 | p.Pro388_Pro405del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Unknown | 919 |
| c.1123_1191del69 | p.Ser375_Glu397del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Unknown | 854 |
| c.1161_1400del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 837 |
| c.1161_1400del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 836 |
| c.1161_1400del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 835 |
| c.1161_1400del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 834 |
| c.1161_1400del240 | p.Pro388_Pro467del | In-frame insertion or deletion | C-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 833 |
| c.1164_1172del9 | p.Pro389_Pro391del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Female | 1144 |
| c.1061_1156del96 | p.Arg352_Pro385del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Classical | Female | 1196 |
| c.635_655del21 | p.Val212_Lys219delinsGlu | In-frame insertion or deletion | TRD | Unknown | Rett syndrome-Not certain | Female | 1248 |
| c.1164_1208del45 | p.Pro389_Pro403del | In-frame insertion or deletion | C-term | Unknown | Rett syndrome-Not certain | Unknown | 1361 |
| c.1097_*13del378 | p.His366_Ser486delins22 | In-frame insertion or deletion | C-term | Rett syndrome-Not certain | Unknown | 1367 | |
| c.807_*125del780 | p.Arg270_Ser486delinsGln | In-frame insertion or deletion | TRD-NLS | Not Known | Female | 1722 | |
| c.1041_*29del450 | p.Lys347_Ser486delins17 | In-frame insertion or deletion | C-term | Not Known | Female | 1745 | |
| c.1157_1192del36 | p.Leu386_Asp398delinsHis | In-frame insertion or deletion | C-term | Unknown | Not Known | Female | 1751 |
| c.1115_1201del87 | p.His372_Ser401delinsArg | In-frame insertion or deletion | C-term | Unknown | Not Known | Female | 1777 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Sporadic mental retardation | Male | 1971 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1972 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1982 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1983 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Sporadic mental retardation | Male | 1984 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1985 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1986 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1987 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1988 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1989 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1990 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1991 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1992 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1993 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1994 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1995 |
| c.-168-?_*?dup | p.Met1? | In-frame insertion or deletion | N-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1996 |
| c.-116_-114dupAGG | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | Female | 2004 |
| c.-116_-114dupAGG | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2005 |
| c.-116_-114dupAGG | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2006 |
| c.1168_1173del6 | p.Pro390_Pro391del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Known | Female | 2049 |
| c.1168_1173del6 | p.Pro390_Pro391del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2068 |
| c.-143_-138dup | p.(=) | In-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 2162 |
| c.-140_-138dup3 | p.(=) | In-frame insertion or deletion | N-term | Unknown | Not Known | Female | 2163 |
| c.1162_1179del18 | p.Pro388_Pro393del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 2183 |
| c.1168_1173del6 | p.Pro390_Pro391del | In-frame insertion or deletion | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 2191 |
| c.1023_*14472del14911 | p.Ser341fs | In-frame insertion or deletion | C-term | Rett syndrome-Classical | Female | 2533 | |
| c.-146_-138dup9 | p.(=) | in-frame insertion or deletion | N-term | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2554 |
| c.-146_-138dup9 | p.(=) | in-frame insertion or deletion | N-term | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2555 |
| c.-143_-138del6 | p.(=) | in-frame insertion or deletion | N-term | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2556 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2557 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2558 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2559 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2560 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2561 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-specific mental retardation | Female | 2562 |
| c.1069_1071delAGC | p.Ser357del | in-frame insertion or deletion | c-term | Rett syndrome-Classical | Female | 2622 | |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Female | 3915 |
| c.-143_-138dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-atypical | Female | 2758 |
| c.1164_1208del45 | p.Pro389_Pro403del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-congenital onset | Female | 2883 |
| c.1168_1173del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Polymorphism not causing disease | Rett syndrome-atypical | Female | 2891 |
| c.-143_-138dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-classical | Female | 2912 |
| c.1162_1191del30 | p.Pro388_Glu397del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | Female | 2951 |
| c.1160_1180del21 | p.Pro387_Glu394delinsGln | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | Female | 2952 |
| c.488_1189del702 | p.Gly163_Ser396del | in-frame insertion or deletion | inter-domain region | Rett syndrome-not certain | Female | 3261 | |
| c.822_1184del363 | p.Val275_Ser396del | in-frame insertion or deletion | TRD | Rett syndrome-not certain | Female | 3276 | |
| c.1156_1197del42 | p.Leu386_Pro399del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3298 |
| c.1156_1197del42 | p.Leu386_Pro399del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3299 |
| c.1156_1197del42 | p.Leu386_Pro399del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3300 |
| c.1159_1458del300 | p.Pro387* | in-frame insertion or deletion | C-term | Rett syndrome-not certain | Female | 3312 | |
| c.1159_1160ins300 | p.Pro387_Pro388ins100 | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3313 |
| c.1162_1191del30 | p.Pro388_Glu397del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3314 |
| c.[641_653del13; 711_1309del599] | p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu | in-frame insertion or deletion | TRD | Rett syndrome-not certain | Female | 3518 | |
| c.1048_1095del48 | p.Ser350_Glu365del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3521 |
| c.-119_-114dupAGGAGG | p.(=) | in-frame insertion or deletion | N-term | Unknown | Rett syndrome-not certain | Female | 3595 |
| c.1151_1183del33 | p.Pro384_Ser395delinsArg | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 3607 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Female | 3916 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Female | 3917 |
| c.-143_-138dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-seizures at adolescence | Female | 3987 |
| c.1163_1201del39 | p.Pro388_Ser401delinsArg | in-frame insertion or deletion | C-term | Unknown | Not Rett synd.-seizures, no speech | Female | 4108 |
| c.295_297delACC | p.Thr99del | in-frame insertion or deletion | MBD | Rett syndrome-classical | Female | 4181 | |
| c.343_1282del | p.Arg115_Glu394del | in-frame insertion or deletion | MBD, inter-domain, TRD, TRD-NLS, C-term | Rett syndrome-not certain | Female | 4306 | |
| c.900_908del | p.Leu301_Ile303del | in-frame insertion or deletion | TRD | Unknown | Rett syndrome-forme fruste | Female | 4386 |
| c.1162_1179del18 | p.Pro388_Pro393del | in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4714 |
| c.248-?_320+?del (exon 3 deletion) | p.? | in-frame insertion or deletion | MBD | Rett syndrome-classical | Female | 4806 | |
| c.[=/657-?_1316+?del] | p.[=/?] | in-frame insertion or deletion | TRD | Rett syndrome-male variant | Male | 4807 | |
| c.1093_1095delGAG | p.Glu365del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-classical | Female | 4818 |
| c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | p.Pro389* | in-frame insertion or deletion | C-term | Rett syndrome-atypical | Female | 4821 | |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-not certain | Female | 4822 |
| c.1117_1203del87 | p.Ser373_Ser401del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-atypical | Female | 4852 |
| c.1161_1166del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Unknown | Not Rett synd.-Angelman syndrome-like | Female | 4855 |
| c.409_1158del | p.Glu137_Leu386del | in-frame insertion or deletion | MBD, inter-domain region, TRD, TRD-NLS, C-term | Rett syndrome-classical | Female | 4866 | |
| c.871_1044del | p.Ile293_Ser350del | in-frame insertion or deletion | TRD, C-term | Rett syndrome-atypical | Female | 4879 | |
| c.1153_1188del36 | p.Pro385_Ser396del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-not certain | Female | 4916 |
| c.1155_1166del12 | p.Leu386_Pro389del | in-frame insertion or deletion | C-term | Unknown | Rett syndrome-atypical | Female | 5059 |
| c.1152_*29del | p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu | in-frame insertion or deletion | C-term | Rett syndrome-atypical | Female | 5071 | |
| c.-143_-138dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | Female | 5113 |
| c.-143_-138dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 5114 |
| c.1168_1173del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 5250 |
| c.1152_1292del141 | p.Pro385_Lys431del | in-frame insertion or deletion | C-term | Rett syndrome-classical | Female | 6657 | |
| c.-146_-138del9 | p.(=) | in-frame insertion or deletion | exon 1 | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 6627 |
| c.-146_-138del9 | p.(=) | in-frame insertion or deletion | exon 1 | Polymorphism not causing disease | Rett syndrome-classical | Female | 6626 |
| c.1168_1173del6 | p.Pro390_Pro391del | in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 6614 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 6345 |
| c.-116_-114dupAGG | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Rett syndrome-classical | Female | 6344 |
| c.-143_-138dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Not Rett synd.-autism | Female | 6844 |
| c.-143_-138dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6843 |
| c.-143_-138dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Rett syndrome-atypical | Female | 6842 |
| c.-143_-138dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Rett syndrome-atypical | Female | 6841 |
| c.-143_-138dup6 | p.(=) | in-frame insertion or deletion | 5'UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 6840 |
| c.-116_-114dup | p.(=) | in-frame insertion or deletion | N-term | Polymorphism not causing disease | Not Known | Male | 6899 |
| c.[965_970del6; 1029dupG; 1138_1208del71] | p.[Pro322_Leu323del; Arg344fs] | In-frame insertion or deletion, frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1116 | |
| c.[1161_1166del6; 1180_1205del26] | p.[Pro390_Pro391del;Glu394Profs*2] | In-frame insertion or deletion, frameshift insertion or deletion | C-term | Rett syndrome-Not certain | Female | 1118 | |
| c.[881_1169del289; 1189_1196del8] | p.Arg294_Asp398delinsHisLeuSerProArgAla | In-frame insertion or deletion, frameshift insertion or deletion | TRD, C-term | Rett syndrome-classical | Unknown | 1528 | |
| c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] | p.[Lys331del; Arg344fs] | In-frame insertion or deletion, frameshift insertion or deletion | C-term | Not Known | Female | 2002 | |
| c.[1104_1106del3;1157_1197del41] | p.[His372del;Leu386fs] | in-frame insertion or deletion, frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 5244 | |
| c.[488_995del508;1061_1062delGC;1229_1240del12] | p.Gly163Alafs*5 | in-frame insertion or deletion, frameshift insertion or deletion | inter-domain region, TRD, C-term | Rett syndrome-not certain | Female | 5248 | |
| c.[1155_1172del18; 1373G>A] | p.[Leu386_Pro391del; Arg458His] | in-frame insertion or deletion, missense | c-term | Unknown | Rett syndrome-not certain | Female | 3874 |
| c.[1148_1177del30];[1148_1177del30] | p.[Leu383_Glu392del];[Leu383_Glu392del] | inframe insertion or deletion | C-term | Rett syndrome-not certain | Female | 2545 | |
| c.616_1122del507 | p.Gly206_Glu374del | inframe insertion or deletion | inter-domain region, TRD, TRD-NLS, C-term | Rett syndrome-classical | Female | 3749 | |
| c.378-17delT | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6852 | |
| c.378-17delT | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Female | 6851 | |
| c.378-17delT | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Female | 6850 | |
| c.378-65C>G | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6849 | |
| c.378-74C>T | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6848 | |
| c.377+22C>G | intronic | intronic | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6847 | |
| c.-99+2_-99+3delTG | intronic variant | intronic variation | intronic | 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 | Rett syndrome-Not certain | Female | 103 | |
| c.378-2A>G | intronic variation | Intronic variation | Intronic | 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 | Rett syndrome-Not certain | Unknown | 253 | |
| c.378-2A>G | intronic variation | Intronic variation | Intronic | 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 | Rett syndrome-Not certain | Female | 1108 | |
| c.378-17delT | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1233 |
| c.27-6C>G | p.Arg9fs | Intronic variation | Intronic | Rett syndrome-Not certain | Unknown | 1355 | |
| c.377+2T>G | intronic variation | Intronic variation | Intronic | Unknown | Rett syndrome-Not certain | Unknown | 1356 |
| c.378-17delT | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | Unknown | 1372 |
| c.377+6_377+9del | intronic variation | Intronic variation | Intronic | Unknown | Not Rett synd.-autism only | Female | 1382 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Known | Unknown | 1383 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Known | Unknown | 1384 |
| c.378-241C>T | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 1433 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1562 |
| c.377+95G>A | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1563 |
| c.378-17delT | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1575 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1583 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1584 |
| c.377+22C>G | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1585 |
| c.377+95G>A | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1586 |
| c.378-17delT | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1596 |
| c.378-17delT | intronic variation | Intronic variation | Intronic | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Unknown | 1597 |
| c.26+2T>A | intronic variation | Intronic variation | Intronic | 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 | 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 | 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 | 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 |
| c.-99+2_-99+3delTG | intronic variant | intronic variation | intronic | 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 |
| c.-99+2_-99+3delTG | intronic variant | intronic variation | intronic | Rett syndrome-classical | Female | 2800 | |
| c.27-2A>G | intronic variation | intronic variation | N-term | Rett syndrome-atypical | Female | 2974 | |
| c.378-2A>T | intronic variation | intronic variation | intronic | Rett syndrome-not certain | Female | 3594 | |
| c.-99+1G>A | intronic variant | intronic variation | intronic | Unknown | Rett syndrome-classical | Female | 3762 |
| c.377+1G>T | intronic variation | intronic variation | intronic | Rett syndrome-classical | Female | 3763 | |
| c.378-3C>G | intronic variation | intronic variation | intronic | 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 | Rett syndrome-Classical | Female | 4348 | |
| c.378-109A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 4349 |
| c.378-109A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 4350 |
| c.378-14G>A | intronic variation | intronic variation | intronic | Unknown | Rett syndrome-Classical | Female | 4351 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4352 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 4353 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 4354 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 4355 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 4356 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 4357 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-Classical | Female | 4358 |
| c.377+22C>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 4388 |
| c.378-109A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 4390 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5082 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5083 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5084 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5085 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5086 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5087 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5088 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5089 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5090 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5091 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5092 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5093 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5094 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5095 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5096 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5097 |
| c.378-74C>T | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5098 |
| c.377+22C>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5141 |
| c.377+22C>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5142 |
| c.377+28A>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5143 |
| c.377+30G>A | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5144 |
| c.378-70C>G | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5145 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5146 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5147 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5148 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5149 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5150 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5151 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5152 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5153 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5154 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5155 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5156 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5157 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5158 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5159 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5160 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5161 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5162 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5163 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5164 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5165 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5166 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5167 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5168 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5169 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5170 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5171 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5172 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5173 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5174 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5175 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5176 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5177 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5178 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5179 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5180 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5181 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5182 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5183 |
| c.378-17delT | intronic variation | intronic variation | intronic | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5184 |
| c.378-2A>C | intronic variation | intronic variation | intronic | 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 | Rett syndrome-classical | Female | 6352 | |
| c.27-2A>G | intronic variation | intronic variation | intronic | Rett syndrome-classical | Female | 6351 | |
| c.378-3C>G | intronic variation | intronic variation | intronic | Rett syndrome-classical | Female | 6350 | |
| c.[378-61C>G; *93G>A] | intronic variation and 3'UTR variation | Intronic variation, 3'UTR variation | Intronic, 3'UTR | Unknown | Not Rett synd.-Sporadic mental retardation | Male | 1979 |
| p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] | p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] | intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion | intronic, C-term | Rett syndrome-Classical | Female | 4335 | |
| c.[378-74C>T;602C>T];[378-74C>T] | p.[Ala201Val];[=] | Intronic variation, missense | Intronic, inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2053 |
| c.[378-74C>T(;)473C>T] | "intronic variation, p.Thr158Met" | intronic variation, missense | intronic, MBD | Rett syndrome-Atypical | Female | 4336 | |
| c.[378-109A>G;518C>G] | p.Pro173Arg | intronic variation, missense | intronic, inter-domain region | Unknown | Not Rett synd.-unaffected family member | Female | 5239 |
| c.[26+22C>G(;) 808C>T] | p.Arg270* | intronic variation, nonsense | intronic, TRD-NLS | Rett syndrome-classical | Female | 2823 | |
| c.[26+22C>G(;) 808C>T] | p.Arg270* | intronic variation, nonsense | intronic variation, TRD-NLS | Rett syndrome-classical | Female | 2831 | |
| c.[377+28A>G(;)1014C>T] | "intronic variation, p.Thr338Thr" | intronic variation, silent | intronic, C-term | Silent polymorphism | Rett syndrome-Classical | Female | 4334 |
| c.-167_-99del | p.(=) | large deletion | N-term | Rett syndrome-classical | Female | 2759 | |
| c.-168-?_26+?del | p.Met1? | large deletion | N-term | Rett syndrome-classical | Female | 2760 | |
| c.-168-?_26+?del | p.Met1? | large deletion | N-term | Rett syndrome-classical | Female | 2761 | |
| c.-168-?_*?del | p.Met1? | large deletion | N-term | Rett syndrome-classical | Female | 2762 | |
| c.[27-?_377+?del(;)1085_1216del132] | p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] | large deletion, inframe insertion or deletion | MBD, C-term | Rett syndrome-classical | Female | 3854 | |
| c.1-?dup | p.Met1? | large duplication | N-term | Unknown | Rett syndrome-not certain | Female | 3253 |
| c.1-?_26+?dup | p.Met1? | large duplication | N-term | Unknown | Rett syndrome-not certain | Female | 3254 |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 3 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 5 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 6 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 7 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 10 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Female | 11 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 16 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 25 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Female | 26 | |
| c.289G>T | p.Asp97Tyr | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 28 |
| c.398G>A | p.Arg133His | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 29 |
| c.914A>G | p.Lys305Arg | Missense | TRD | Unknown | Rett syndrome-Not certain | Female | 30 |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 46 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 49 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 50 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 51 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 52 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 53 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 54 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 55 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 56 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 57 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 58 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 59 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 60 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Male variant | Male | 61 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 62 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 63 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 64 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 65 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 66 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 67 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 68 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 69 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 70 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 71 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 72 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 73 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 74 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 75 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 76 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 77 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 78 | |
| c.965C>T | p.Pro322Leu | Missense | C-term | Unknown | Rett syndrome-Not certain | Female | 79 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 104 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 105 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Not certain | Female | 106 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 107 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 108 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 109 | |
| c.904C>G | p.Pro302Ala | Missense | TRD | Unknown | Rett syndrome-Preserved speech | Female | 120 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 121 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 133 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 136 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 139 | |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Unknown | 141 |
| c.905C>A | p.Pro302His | Missense | TRD | Unknown | Rett syndrome-Not certain | Unknown | 144 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 145 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 146 | |
| c.752C>T | p.Pro251Leu | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 149 |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 151 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 152 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 153 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 154 | |
| c.372G>C | p.Leu124Phe | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 155 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 156 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 157 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 158 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Classical | Female | 159 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 160 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 161 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 162 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 163 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 164 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 165 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 166 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 167 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Preserved speech | Female | 168 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 169 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 170 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 171 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 172 | |
| c.302C>G | p.Pro101Arg | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 190 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 191 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 192 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 193 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 194 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 205 |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-atypical | Female | 217 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Female | 218 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Female | 219 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 220 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 221 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 222 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 223 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 224 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 225 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 226 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 227 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 228 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 229 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 230 | |
| c.481G>T | p.Gly161Trp | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 231 |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Unknown | 232 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Unknown | 233 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 234 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 235 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 262 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 263 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 264 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 265 | |
| c.467A>G | p.Asp156Gly | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 266 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 267 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 268 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 269 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 288 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 289 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 290 | |
| c.380C>T | p.Pro127Leu | Missense | MBD | Unknown | Rett syndrome-Preserved speech | Female | 291 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 292 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 293 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 294 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 295 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 296 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 297 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 298 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 299 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Classical | Female | 302 | |
| c.904C>G | p.Pro302Ala | Missense | TRD | Unknown | Rett syndrome-Classical | Female | 318 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 319 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 320 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 321 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 322 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 323 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 324 | |
| c.398G>T | p.Arg133Leu | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 329 |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Classical | Female | 335 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 355 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 354 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 359 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Atypical | Female | 361 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 362 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 363 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 368 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 370 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Classical | Female | 372 | |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 373 |
| c.[590C>T(;)674C>T] | p.[Thr197Met(;)Pro225Arg] | Missense | Inter-domain region, TRD | Rett syndrome-Atypical | Female | 374 | |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 375 |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 376 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 377 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 379 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 380 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 383 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 385 | |
| c.1430G>C | p.Ser477Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 394 |
| c.1430G>C | p.Ser477Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 395 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Classical | Female | 398 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 399 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 400 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 402 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 404 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 405 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Atypical | Female | 409 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 411 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Classical | Female | 413 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 418 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Atypical | Female | 419 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 422 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 424 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 426 | |
| c.398G>A | p.Arg133His | Missense | MBD | Unknown | Rett syndrome-Atypical | Female | 433 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 434 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 437 |
| c.[473C>T];[1189G>A] | p.[Thr158Met];[Glu397Lys] | Missense | MBD, C-term | Rett syndrome-Atypical | Female | 438 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Atypical | Female | 439 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Atypical | Female | 447 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 451 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 452 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 453 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Atypical | Female | 456 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Atypical | Female | 459 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 461 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 463 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 465 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Classical | Female | 467 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 469 | |
| c.917G>A | p.Arg306His | Missense | TRD | Not Known | Female | 476 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-Unaffected family member | Female | 953 | |
| c.1038C>G | p.Ser346Arg | Missense | C-term | Rett syndrome-Classical | Female | 939 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Classical | Female | 938 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 934 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 932 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 928 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 927 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 924 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Classical | Female | 921 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Unknown | 913 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Unknown | 911 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Unknown | 912 | |
| c.905C>T | p.Pro302Leu | Missense | TRD | Unknown | Rett syndrome-Classical | Unknown | 910 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Forme fruste | Unknown | 890 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 888 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Forme fruste | Unknown | 889 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 886 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 887 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 884 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 885 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Forme fruste | Unknown | 880 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Unknown | 881 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Unknown | 879 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 868 | |
| c.463T>A | p.Phe155Ile | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 867 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 866 | |
| c.291C>A | p.Asp97Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 865 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 864 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 863 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 862 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 861 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 860 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 859 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 858 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 857 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 856 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 846 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 845 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Unknown | 844 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Unknown | 841 | |
| c.464T>C | p.Phe155Ser | Missense | MBD | Rett syndrome-Classical | Unknown | 840 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Unknown | 839 | |
| c.686C>T | p.Ser229Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | Female | 1011 |
| c.410A>G | p.Glu137Gly | Missense | MBD | Not Rett synd.-X-linked mental retardation | Male | 1012 | |
| c.499C>T | p.Arg167Trp | Missense | Inter-domain region | Not Rett synd.-X-linked mental retardation | Male | 1013 | |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1014 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1015 |
| c.1196C>T | p.Pro399Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-X-linked mental retardation | Male | 1016 |
| c.1358G>A | p.Arg453Gln | Missense | C-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1017 |
| c.850A>G | p.Lys284Glu | Missense | TRD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1018 |
| c.1160C>T | p.Pro387Leu | Missense | C-term | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1022 |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1025 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1026 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1027 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1028 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1029 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1030 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Female | 1031 | |
| c.464T>C | p.Phe155Ser | Missense | MBD | Rett syndrome-Not certain | Female | 1032 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1033 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1034 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1035 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1036 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1037 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1038 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1039 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1040 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1041 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1042 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1043 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1044 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1045 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1046 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1047 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1048 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1049 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1050 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1051 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1052 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1053 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1054 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1055 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1056 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1057 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1058 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1059 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1060 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1061 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 1062 | |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1126 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1129 |
| c.1330G>A | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1136 |
| c.1330G>A | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1137 |
| c.257C>G | p.Ser86Cys | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1138 |
| c.298C>G | p.Leu100Val | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1139 |
| c.859G>C | p.Ala287Pro | Missense | TRD | Unknown | Rett syndrome-Not certain | Female | 1140 |
| c.871T>G | p.Ser291Ala | Missense | TRD | Unknown | Rett syndrome-Not certain | Female | 1141 |
| c.914A>G | p.Lys305Arg | Missense | TRD | Unknown | Rett syndrome-Not certain | Female | 1142 |
| c.1234G>A | p.Val412Ile | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1143 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1145 | |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Non-progressive encephalopathy of neonatal onset | Male | 1150 |
| c.302C>G | p.Pro101Arg | Missense | MBD | Unknown | Not Rett synd.-Angelman syndrome | Female | 1152 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1163 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1164 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1165 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1171 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 1175 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 1176 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Preserved speech | Female | 1177 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Preserved speech | Female | 1178 | |
| c.[=/398G>A] | p.[=/Arg133His] | Missense | MBD | Unknown | Rett syndrome-Male variant | Male | 1182 |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1529 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1197 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1209 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1212 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1214 | |
| c.298C>G | p.Leu100Val | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 1215 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1217 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1219 | |
| c.289G>T | p.Asp97Tyr | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 1221 |
| c.686C>T | p.Ser229Leu | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1222 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 1223 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1224 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 1225 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1226 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1231 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1232 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1242 | |
| c.468C>G | p.Asp156Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1243 |
| c.468C>G | p.Asp156Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1244 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1245 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1246 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1249 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1250 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1251 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1262 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1263 | |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-Unaffected family member | Female | 1265 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1266 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-Unaffected family member | Female | 1267 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation, manic-depressive illness | Male | 1268 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation, manic-depressive illness | Male | 1269 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation | Male | 1270 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-Unaffected family member | Female | 1271 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-X-linked mental retardation, manic-depressive illness | Male | 1272 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1273 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1274 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1275 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1276 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1277 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Unknown | 1278 | |
| c.331A>G | p.Arg111Gly | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 1279 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1280 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1281 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1282 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1283 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1284 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Unknown | 1285 | |
| c.403A>G | p.Lys135Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 1286 |
| c.403A>G | p.Lys135Glu | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 1287 |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Unknown | 1288 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Unknown | 1289 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Unknown | 1290 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Not certain | Unknown | 1291 | |
| c.467A>G | p.Asp156Gly | Missense | MBD | Unknown | Rett syndrome-Not certain | Unknown | 1292 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1293 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1294 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1295 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1296 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1297 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1298 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1299 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Unknown | 1300 | |
| c.629A>T | p.Lys210Ile | Missense | TRD | Unknown | Rett syndrome-Not certain | Unknown | 1301 |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Unknown | 1302 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Unknown | 1303 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 1304 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 1305 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Unknown | 1306 | |
| c.517C>G | p.Pro173Ala | Missense | Inter-domain region | Unknown | Rett syndrome-Not certain | Unknown | 1370 |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Unknown | 1371 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1376 | |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Not Known | Female | 1385 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Male | 1387 | |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Male variant | Male | 1388 |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1389 |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1390 |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1391 |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1392 |
| c.1075T>C | p.Ser359Pro | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1393 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Male | 1394 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1395 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 1396 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1397 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1398 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1399 | |
| c.898G>A | p.Val300Ile | Missense | TRD | Unknown | Rett syndrome-Classical | Female | 1400 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1401 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1402 | |
| c.964C>G | p.Pro322Ala | Missense | C-term | Unknown | Rett syndrome-Classical | Female | 1403 |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Classical | Female | 1430 |
| c.301C>T | p.Pro101Ser | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 1436 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 1437 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1438 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1439 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1440 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Classical | Female | 1441 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1442 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1443 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1444 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 1454 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Classical | Female | 1460 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 1462 | |
| c.472A>G | p.Thr158Ala | Missense | MBD | Unknown | Rett syndrome-Preserved speech | Female | 1463 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1464 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1465 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1466 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-Unaffected family member | Female | 1479 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 1480 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 1481 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1482 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1483 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1499 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1500 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1501 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Non Rett syndrome control | Unknown | 1502 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1503 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-atypical | Unknown | 1504 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-atypical | Unknown | 1505 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Unknown | 1506 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Unknown | 1507 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-atypical | Unknown | 1508 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-atypical | Unknown | 1509 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-atypical | Unknown | 1520 | |
| c.468C>G | p.Asp156Glu | Missense | MBD | Unknown | Rett syndrome-classical | Unknown | 1522 |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-atypical | Unknown | 1523 | |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1530 |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1531 |
| c.1030C>T | p.Arg344Trp | Missense | C-term | Unknown | Rett syndrome-Not certain | Male | 1532 |
| c.1030C>T | p.Arg344Trp | Missense | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1533 |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-not certain | Male | 1534 |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1535 |
| c.1196C>T | p.Pro399Leu | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1536 |
| c.1196C>T | p.Pro399Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1537 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1538 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1539 |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1547 |
| c.1330G>A | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1548 |
| c.1330G>A | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1549 |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1550 |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1551 |
| c.1282G>A | p.Gly428Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1552 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-classical | Female | 1554 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Rett synd.-angelman syndrome | Female | 1555 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-angelman syndrome | Female | 1556 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-atypical | Female | 1558 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-atypical | Female | 1559 | |
| c.542C>T | p.Ala181Val | Missense | Inter-domain region | Unknown | Not Rett synd.-autism only | Male | 1564 |
| c.542C>T | p.Ala181Val | Missense | Inter-domain region | Unknown | Not Rett synd.-Unaffected family member | Female | 1565 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1570 |
| c.[1126C>T];[1126C>T] | p.[Pro376Ser];[Pro376Ser] | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 1571 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 1573 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd.-autism only | Male | 1574 |
| c.1205C>T | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Male | 1578 |
| c.1205C>T | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1579 |
| c.1205C>T | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1580 |
| c.1205C>T | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 1581 |
| c.1205C>T | p.Pro402Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1582 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 1587 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1589 |
| c.-156C>T | p.(=) | missense | N-term | Unknown | Rett syndrome-classical | Female | 3864 |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1599 |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1600 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1609 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1610 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1612 | |
| c.527C>G | p.Pro176Arg | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Male | 1613 |
| c.527C>G | p.Pro176Arg | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1614 |
| c.-160A>T | p.(=) | missense | N-term | Unknown | Rett syndrome-classical | Female | 3865 |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 1617 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1621 | |
| c.469T>A | p.Phe157Ile | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1622 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1624 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1625 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1628 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 1630 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1631 | |
| c.683C>G | p.Thr228Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1632 |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1634 | |
| c.905C>T | p.Pro302Leu | Missense | TRD | Unknown | Rett syndrome-Not certain | Female | 1636 |
| c.1441G>A | p.Val481Met | Missense | C-term | Unknown | Rett syndrome-Not certain | Female | 1637 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1644 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1645 | |
| c.298C>G | p.Leu100Val | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1648 |
| c.1340C>T | p.Ala447Val | Missense | C-term | Unknown | Rett syndrome-Not certain | Female | 1650 |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Not certain | Female | 1651 | |
| c.815C>T | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1652 |
| c.815C>T | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1653 |
| c.815C>T | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1654 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1655 |
| c.674C>T | p.Pro225Leu | Missense | TRD | Unknown | Rett syndrome-Male variant | Male | 1659 |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1661 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1663 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1665 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1666 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Atypical | Female | 1669 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Not Rett synd.-Unaffected family member | Female | 1672 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Male variant | Male | 1673 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1675 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1682 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1685 | |
| c.905C>T | p.Pro302Leu | Missense | TRD | Unknown | Not Known | Female | 1686 |
| c.301C>T | p.Pro101Ser | Missense | MBD | Unknown | Not Known | Female | 1687 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1699 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1704 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1706 | |
| c.953A>C | p.Glu318Ala | Missense | C-term | Unknown | Rett syndrome-classical | Female | 1707 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1708 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1712 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1715 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1719 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1723 | |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 1724 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1725 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1727 | |
| c.401C>T | p.Ser134Phe | Missense | MBD | Unknown | Not Known | Female | 1740 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1743 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1746 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1748 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1749 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1752 | |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 1757 |
| c.455C>G | p.Pro152Arg | Missense | MBD | Not Known | Female | 1764 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1765 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1767 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1770 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1773 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1778 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1779 | |
| c.468C>G | p.Asp156Glu | Missense | MBD | Unknown | Not Known | Female | 1788 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1789 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1792 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Not Known | Female | 1793 | |
| c.397C>G | p.Arg133Gly | Missense | MBD | Unknown | Not Known | Female | 1798 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 1801 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 1802 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Not Known | Female | 1805 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1806 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 1807 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1813 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 1816 | |
| c.301C>T | p.Pro101Ser | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1822 |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 1827 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1832 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1833 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1835 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1836 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1847 | |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1850 |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1851 |
| c.749G>A | p.Arg250His | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1852 |
| c.749G>A | p.Arg250His | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1853 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1855 | |
| c.932C>T | p.Thr311Met | Missense | C-term | Unknown | Rett syndrome-Not certain | Female | 1858 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Not certain | Female | 1869 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1874 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1878 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1879 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1880 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Not certain | Female | 1881 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1882 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Not certain | Female | 1883 | |
| c.341G>C | p.Gly114Ala | Missense | MBD | Unknown | Rett syndrome-Not certain | Female | 1884 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1886 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 1887 | |
| c.881G>C | p.Arg294Pro | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1903 |
| c.881G>C | p.Arg294Pro | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1904 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 1905 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Not certain | Female | 1906 | |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Male | 1908 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1909 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Not certain | Female | 1910 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-classical | Female | 1924 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1927 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-classical | Female | 1929 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1931 | |
| c.299T>G | p.Leu100Arg | Missense | MBD | Unknown | Rett syndrome-classical | Female | 1932 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1933 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1935 | |
| c.472A>G | p.Thr158Ala | Missense | MBD | Unknown | Rett syndrome-classical | Female | 1939 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1941 | |
| c.482G>T | p.Gly161Val | Missense | MBD | Unknown | Rett syndrome-atypical | Female | 1942 |
| c.953A>C | p.Glu318Ala | Missense | C-term | Unknown | Rett syndrome-atypical | Female | 1945 |
| c.298C>G | p.Leu100Val | Missense | MBD | Unknown | Rett syndrome-atypical | Female | 1946 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1947 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1948 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-classical | Female | 1950 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-atypical | Female | 1959 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-classical | Female | 1961 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-atypical | Female | 1964 | |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-Developmental receptive language disorder, childhood-onset schizophrenia | Male | 1966 |
| c.419C>T | p.Ala140Val | Missense | MBD | Unknown | Not Rett synd.-Unaffected family member | Female | 1967 |
| c.602C>T | p.Ala201Val | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Male | 1973 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Male | 1974 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Male | 1997 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Rett synd.-Sporadic mental retardation | Female | 1998 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 1999 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 2001 | |
| c.1061G>T | p.Arg354Leu | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2003 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Known | Male | 2009 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2011 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 2013 | |
| c.910A>G | p.Lys304Glu | Missense | TRD | Unknown | Not Known | Female | 2015 |
| c.1324A>G | p.Thr442Ala | Missense | C-term | Unknown | Not Known | Female | 2016 |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 2019 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 2023 | |
| c.[397C>T(;)1061G>T] | p.[Arg133Cys(;)Arg354Leu] | Missense | MBD, C-term | Not Known | Female | 2025 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 2026 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 2028 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2032 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Not Known | Female | 2033 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2035 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Known | Female | 2038 | |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 2039 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2040 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 2046 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2054 | |
| c.479C>G | p.Thr160Ser | Missense | MBD | Unknown | Not Known | Female | 2058 |
| c.362A>G | p.Asp121Gly | Missense | MBD | Unknown | Not Known | Female | 2065 |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Known | Female | 2066 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Not Known | Female | 2067 | |
| c.464T>G | p.Phe155Cys | Missense | MBD | Unknown | Rett syndrome-Atypical | Female | 2069 |
| c.608C>T | p.Thr203Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Known | Female | 2123 |
| c.590C>T | p.Thr197Met | Missense | Inter-domain region | Polymorphism not causing disease | Not Known | Female | 2124 |
| c.1229G>A | p.Ser410Asn | Missense | C-term | Unknown | Rett syndrome-Classical | Female | 2125 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 2126 |
| c.815C>T | p.Pro272Leu | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 2127 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 2130 |
| c.633G>C | p.Arg211Ser | Missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2134 |
| c.633G>C | p.Arg211Ser | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2135 |
| c.386G>T | p.Gly129Val | Missense | MBD | Unknown | Not Known | Female | 2137 |
| c.277C>T | p.Pro93Ser | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 2138 |
| c.215C>T | p.Pro72Leu | Missense | N-term | Unknown | Not Known | Male | 2139 |
| c.155A>G | p.His52Arg | Missense | N-term | Unknown | Not Rett synd.-not certain | Female | 2141 |
| c.1372C>T | p.Arg458Cys | Missense | C-term | Polymorphism not causing disease | Not Known | Female | 2143 |
| c.1372C>T | p.Arg458Cys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2144 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Known | Female | 2145 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Known | Female | 2146 |
| c.1234G>A | p.Val412Ile | Missense | C-term | Polymorphism not causing disease | Not Known | Male | 2147 |
| c.1234G>A | p.Val412Ile | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2148 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Known | Male | 2152 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-not certain | Male | 2153 |
| c.1081C>G | p.Pro361Ala | Missense | C-term | Unknown | Not Known | Female | 2154 |
| c.1081C>G | p.Pro361Ala | Missense | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 2155 |
| c.1081C>G | p.Pro361Ala | Missense | C-term | Unknown | Not Known | Male | 2156 |
| c.1081C>G | p.Pro361Ala | Missense | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 2157 |
| c.1330G>A | p.Ala444Thr | Missense | C-term | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 2164 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd.-ADHD | Male | 2165 |
| c.1315G>A | p.Ala439Thr | Missense | C-term | Unknown | Not Rett synd.-Non Rett syndrome control | Male | 2166 |
| c.302C>A | p.Pro101His | Missense | MBD | Rett syndrome-Classical | Female | 2167 | |
| c.302C>T | p.Pro101Leu | Missense | MBD | Rett syndrome-Classical | Female | 2168 | |
| c.301C>T | p.Pro101Ser | Missense | MBD | Unknown | Rett syndrome-Atypical | Female | 2169 |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 2170 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 2171 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Atypical | Female | 2172 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Rett syndrome-Classical | Female | 2173 | |
| c.905C>T | p.Pro302Leu | Missense | TRD | Unknown | Rett syndrome-Classical | Female | 2174 |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Female | 2175 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Not certain | Female | 2176 | |
| c.964C>G | p.Pro322Ala | Missense | C-term | Unknown | Rett syndrome-Not certain | Female | 2177 |
| c.965C>T | p.Pro322Leu | Missense | C-term | Unknown | Rett syndrome-Classical | Female | 2178 |
| c.316C>G | p.Arg106Gly | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 2194 |
| c.316C>G | p.Arg106Gly | Missense | MBD | Unknown | Not Rett synd.-Unaffected family member | Female | 2195 |
| c.316C>G | p.Arg106Gly | Missense | MBD | Unknown | Rett syndrome-Atypical | Female | 2196 |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2197 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Atypical | Female | 2198 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2199 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2200 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2201 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Atypical | Female | 2202 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2203 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Atypical | Female | 2204 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Atypical | Female | 2205 | |
| c.[316C>T(;)917G>T(;)1061G>A] | p.[Arg106Trp(;)Arg306Leu(;)Arg354His] | Missense | MBD, TRD, C-term | Rett syndrome-Not certain | Female | 2206 | |
| c.1061G>A | p.Arg354His | Missense | C-term | Unknown | Not Rett synd.-Unaffected family member | Female | 2207 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2208 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2209 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2210 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2211 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2212 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2213 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Rett synd.-Unaffected family member | Female | 2214 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2215 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2216 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2217 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2218 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Female | 2219 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Atypical | Male | 2220 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2221 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2222 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2223 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2224 | |
| c.398G>A | p.Arg133His | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 2226 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2320 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Atypical | Female | 2321 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 2322 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2323 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 2324 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Atypical | Female | 2325 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2326 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 2327 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Atypical | Female | 2328 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Not certain | Female | 2329 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Atypical | Female | 2330 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Classical | Female | 2331 | |
| c.917G>A | p.Arg306His | Missense | TRD | Rett syndrome-Classical | Female | 2332 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Classical | Female | 2333 | |
| c.401C>G | p.Ser134Cys | Missense | MBD | Rett syndrome-Classical | Female | 2334 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2339 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2340 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2341 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 2342 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 2343 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-Progressive encephalopathy of neonatal onset | Male | 2344 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2345 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 2346 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Atypical | Female | 2347 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2348 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2349 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2350 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 2351 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2352 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2353 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Not certain | Female | 2354 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Atypical | Female | 2355 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2356 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2357 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2358 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Atypical | Female | 2359 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2360 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2361 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2362 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2363 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2364 | |
| c.587C>G | p.Thr196Ser | Missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-Schizophrenia | Female | 2368 |
| c.1127C>G | p.Pro376Arg | Missense | C-term | Unknown | Not Rett synd.-autism only | Female | 2369 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 2389 | |
| c.[1202G>A];[1202G>A] | p.[Ser401Asn];[Ser401Asn] | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 2390 |
| c.1202G>A | p.Ser401Asn | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 2391 |
| c.1202G>A | p.Ser401Asn | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2392 |
| c.1202G>A | p.Ser401Asn | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2393 |
| c.1202G>A | p.Ser401Asn | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 2394 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2399 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2400 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2405 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Preserved speech | Female | 2407 | |
| c.914A>G | p.Lys305Arg | Missense | TRD | Unknown | Rett syndrome-Classical | Female | 2408 |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2409 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2411 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Preserved speech | Female | 2413 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Forme fruste | Female | 2415 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Forme fruste | Female | 2419 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 2423 | |
| c.965C>T | p.Pro322Leu | Missense | C-term | Unknown | Rett syndrome-Classical | Female | 2424 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2425 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2428 | |
| c.674C>T | p.Pro225Leu | Missense | TRD | Unknown | Rett syndrome-Classical | Female | 2429 |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2430 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2432 | |
| c.317G>A | p.Arg106Gln | Missense | MBD | Rett syndrome-Classical | Female | 2436 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2437 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Classical | Female | 2438 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2440 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2442 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2444 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Preserved speech | Female | 2447 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2448 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Classical | Female | 2450 | |
| c.380C>T | p.Pro127Leu | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 2457 |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Congenital onset | Female | 2461 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2464 | |
| c.905C>G | p.Pro302Arg | Missense | TRD | Rett syndrome-Classical | Female | 2466 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Rett syndrome-Classical | Female | 2467 | |
| c.455C>G | p.Pro152Arg | Missense | MBD | Rett syndrome-Classical | Female | 2468 | |
| c.316C>T | p.Arg106Trp | Missense | MBD | Rett syndrome-Preserved speech | Female | 2470 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2472 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2475 | |
| c.1163C>T | p.Pro388Leu | Missense | C-term | Unknown | Rett syndrome-Forme fruste | Female | 2476 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Congenital onset | Female | 2478 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2480 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Rett syndrome-Classical | Female | 2482 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2483 | |
| c.317G>T | p.Arg106Leu | Missense | MBD | Unknown | Rett syndrome-Classical | Female | 2484 |
| c.473C>T | p.Thr158Met | Missense | MBD | Rett syndrome-Classical | Female | 2486 | |
| c.916C>T | p.Arg306Cys | Missense | TRD | Not Known | Female | 2488 | |
| c.674C>G | p.Pro225Arg | Missense | TRD | Not Known | Female | 2489 | |
| c.397C>T | p.Arg133Cys | Missense | MBD | Not Rett synd.-Angelman syndrome | Female | 2491 | |
| c.473C>T | p.Thr158Met | Missense | MBD | Not Rett synd.-Angelman syndrome | Male | 2492 | |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Female | 2493 |
| c.1126C>T | p.Pro376Ser | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Angelman syndrome | Female | 2495 |
| c.422A>G | p.Tyr141Cys | Missense | MBD | Unknown | Rett syndrome-Atypical | Female | 2519 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Female | 2522 |
| c.1189G>A | p.Glu397Lys | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-Sporadic mental retardation | Female | 2523 |
| c.964C>T | p.Pro322Ser | Missense | C-term | Unknown | Not Rett synd.-Sporadic mental retardation | Male | 2529 |
| c.964C>T | p.Pro322Ser | Missense | C-term | Unknown | Not Rett synd.-Borderline low IQ | Female | 2530 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 2539 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 2540 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-male variant | Male | 2548 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-male variant | Male | 2549 | |
| c.-112G>A | p.(=) | missense | N-term | Unknown | Not Rett synd.-non-specific mental retardation | Female | 2563 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 2565 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 2566 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 2567 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 2568 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 2569 | |
| c.323T>A | p.Leu108His | missense | MBD | Unknown | Rett syndrome-Classical | Female | 2570 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2571 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2572 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2573 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2574 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2575 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 2576 | |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-Classical | Female | 2577 | |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-Classical | Female | 2578 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-Classical | Female | 2581 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2582 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2583 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2584 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2585 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2586 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2587 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2588 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2589 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2590 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2591 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 2592 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-Classical | Female | 2597 | |
| c.904C>T | p.Pro302Ser | missense | TRD | Unknown | Rett syndrome-Classical | Female | 2615 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 2616 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 2617 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 2618 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 2619 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 2620 | |
| c.1162C>T | p.Pro388Ser | missense | c-term | Unknown | Rett syndrome-Classical | Female | 2626 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2632 |
| c.686C>T | p.Ser229Leu | missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2633 |
| c.815C>T | p.Pro272Leu | missense | TRD | Polymorphism not causing disease | Rett syndrome-Classical | Female | 2634 |
| c.289G>T | p.Asp97Tyr | missense | MBD | Unknown | Rett syndrome-not certain | Female | 2646 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 2648 | |
| c.527C>G | p.Pro176Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-sporadic mental retardation | Unknown | 2652 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-sporadic mental retardation | Unknown | 2656 |
| c.1430G>C | p.Ser477Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-sporadic mental retardation | Unknown | 2658 |
| c.679C>G | p.Gln227Glu | missense | TRD | Unknown | Not Rett synd.-sporadic mental retardation | Female | 2660 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-Autism | Male | 2665 |
| c.617G>C | p.Gly206Ala | missense | inter-domain region | Unknown | Not Rett synd.-Autism | Male | 2666 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-Autism | Male | 2667 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-Autism | Male | 2671 |
| c.245A>G | p.Lys82Arg | missense | MBD | Polymorphism not causing disease | Not Rett synd.-Non-Rett syndrome control | Male | 2673 |
| c.514C>T | p.Pro172Ser | missense | inter-domain region | Unknown | Not Rett synd.-mental retardation and autism combined | Male | 2746 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2747 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2748 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2749 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2750 |
| c.683C>G | p.Thr228Ser | missense | TRD | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2752 |
| c.1214C>T | p.Pro405Leu | missense | C-term | Unknown | Not Rett synd.-mental retardation and autism combined | Male | 2763 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2767 |
| c.815C>T | p.Pro272Leu | missense | TRD | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 2768 |
| c.547G>C | p.Gly183Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 2771 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-non-specfic mental retardation | Female | 2774 |
| c.1315G>A | p.Ala439Thr | missense | C-term | Unknown | Not Rett synd.-mental retardation | Female | 2777 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 2778 |
| c.469T>A | p.Phe157Ile | missense | MBD | Unknown | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 2795 |
| c.1250A>T | p.Lys417Met | missense | C-term | Unknown | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 2796 |
| c.298C>G | p.Leu100Val | missense | MBD | Unknown | Rett syndrome-classical | Female | 2804 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2805 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2806 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2807 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2808 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2809 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2810 | |
| c.[26+22C>G(;)468C>G] | "intronic variation, p.Asp156Glu" | missense | MBD | Unknown | Rett syndrome-classical | Female | 2811 |
| c.482G>A | p.Gly161Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 2812 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-classical | Female | 2813 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2815 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2816 | |
| c.932C>T | p.Thr311Met | missense | C-term | Unknown | Rett syndrome-classical | Female | 2817 |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-classical | Female | 2818 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2852 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2853 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2854 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2855 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2856 | |
| c.1162C>T | p.Pro388Ser | missense | C-term | Unknown | Rett syndrome-congenital onset | Female | 2857 |
| c.1126C>T | p.Pro376Ser | missense | C-term | Polymorphism not causing disease | Rett syndrome-classical | Female | 2858 |
| c.36G>C | p.Lys12Asn | missense | N-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 2865 |
| c.28G>C | p.Glu10Gln | missense | N-term | Unknown | Rett syndrome-forme fruste | Female | 2866 |
| c.383A>C | p.Gln128Pro | missense | MBD | Unknown | Rett syndrome-late regression | Female | 2867 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-forme fruste | Female | 2868 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-forme fruste | Female | 2869 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-forme fruste | Female | 2870 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 2871 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 2872 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-forme fruste | Female | 2873 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2874 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-forme fruste | Female | 2875 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2876 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2877 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2878 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2892 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2893 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2894 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2902 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2903 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2931 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2932 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2933 | |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 2934 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2935 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2936 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2937 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2945 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2946 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 2947 | |
| c.964C>G | p.Pro322Ala | missense | C-term | Unknown | Rett syndrome-classical | Female | 2948 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 2954 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 2955 | |
| c.422A>G | p.Tyr141Cys | missense | MBD | Unknown | Rett syndrome-atypical | Female | 2956 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-atypical | Female | 2957 | |
| c.452A>G | p.Asp151Gly | missense | MBD | Unknown | Rett syndrome-atypical | Female | 2958 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-atypical | Female | 2959 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-atypical | Female | 2960 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-atypical | Female | 2961 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-atypical | Female | 2962 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-atypical | Female | 2963 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Rett synd.- | Female | 2976 | |
| c.909C>G | p.Ile303Met | missense | TRD | Unknown | Not Rett synd.- | Female | 2977 |
| c.401C>T | p.Ser134Phe | missense | MBD | Unknown | Rett syndrome-classical | Female | 2986 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 2987 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2988 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2989 | |
| c.836C>T | p.Ala279Val | missense | TRD | Unknown | Rett syndrome-classical | Female | 2990 |
| c.836C>T | p.Ala279Val | missense | TRD | Unknown | Rett syndrome-classical | Female | 2991 |
| c.836C>T | p.Ala279Val | missense | TRD | Unknown | Rett syndrome-classical | Female | 2992 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 2995 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2996 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2997 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2998 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 2999 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-classical | Female | 3000 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3001 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3002 | |
| c.1141C>G | p.Pro381Ala | missense | C-term | Polymorphism not causing disease | Rett syndrome-classical | Female | 3012 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3014 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3015 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3018 | |
| c.686C>T | p.Ser229Leu | missense | TRD | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3025 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3028 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3029 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3030 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3031 |
| c.683C>G | p.Thr228Ser | missense | TRD | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3032 |
| c.1180G>A | p.Glu394Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3033 |
| c.1438C>T | p.Pro480Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 3034 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3036 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3037 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3038 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3039 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3067 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3068 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3069 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3070 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3071 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3072 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3073 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3074 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3075 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3076 | |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3077 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3078 | |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-not certain | Female | 3079 | |
| c.904C>G | p.Pro302Ala | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3080 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3081 |
| c.[=/473C>T];[473C>T] | p.[=/Thr158Met];[Thr158Met] | missense | MBD | Rett syndrome-classical | Female | 3082 | |
| c.291C>A | p.Asp97Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3083 |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 3084 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 3085 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 3086 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3087 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3088 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3089 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3090 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3091 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3092 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3093 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3094 | |
| c.316C>G | p.Arg106Gly | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3095 |
| c.380C>T | p.Pro127Leu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3096 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3097 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3098 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3099 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3100 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3101 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3102 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3103 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3104 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3105 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3106 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3107 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3108 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3109 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3110 | |
| c.398G>A | p.Arg133His | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3111 |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3112 |
| c.422A>G | p.Tyr141Cys | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3113 |
| c.422A>G | p.Tyr141Cys | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3114 |
| c.422A>G | p.Tyr141Cys | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3115 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3116 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3117 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3118 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3119 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3120 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3121 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3122 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3123 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3124 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3125 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3126 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3127 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3128 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3129 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3130 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3131 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3132 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3133 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3134 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3135 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3136 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3137 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-not certain | Female | 3138 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-not certain | Female | 3139 | |
| c.904C>G | p.Pro302Ala | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3140 |
| c.908T>G | p.Ile303Ser | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3141 |
| c.910A>G | p.Lys304Glu | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3142 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3143 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3144 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3145 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3146 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3147 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3148 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3149 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3150 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3151 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3152 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3153 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3154 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3155 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3156 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3157 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3158 | |
| c.917G>A | p.Arg306His | missense | TRD | Rett syndrome-not certain | Female | 3159 | |
| c.917G>A | p.Arg306His | missense | TRD | Rett syndrome-not certain | Female | 3160 | |
| c.917G>A | p.Arg306His | missense | TRD | Rett syndrome-not certain | Female | 3161 | |
| c.917G>A | p.Arg306His | missense | TRD | Rett syndrome-not certain | Female | 3162 | |
| c.964C>G | p.Pro322Ala | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3163 |
| c.964C>G | p.Pro322Ala | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3164 |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3165 |
| c.982C>G | p.Leu328Val | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3166 |
| c.1133C>T | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3167 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3361 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3362 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-forme fruste | Female | 3366 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3374 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3375 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-forme fruste | Female | 3376 | |
| c.905C>T | p.Pro302Leu | missense | TRD | Unknown | Rett syndrome-classical | Female | 3381 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3382 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3384 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3385 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3386 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3387 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3388 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-preserved speech | Female | 3389 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3390 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3391 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3392 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3393 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3394 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3395 | |
| c.372G>C | p.Leu124Phe | missense | MBD | Unknown | Rett syndrome-classical | Female | 3396 |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-classical | Female | 3397 | |
| c.905C>G | p.Pro302Arg | missense | TRD | Rett syndrome-classical | Female | 3398 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3399 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 3418 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3419 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3420 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3421 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3422 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3423 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3424 | |
| c.316C>G | p.Arg106Gly | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3425 |
| c.380C>T | p.Pro127Leu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3426 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3427 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3428 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3429 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3430 | |
| c.397C>G | p.Arg133Gly | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3431 |
| c.398G>A | p.Arg133His | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3432 |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3433 |
| c.452A>G | p.Asp151Gly | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3434 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3435 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3436 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3437 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3438 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3439 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3440 |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3441 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3442 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3443 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3444 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3445 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3446 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3447 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3448 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3449 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3450 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-not certain | Female | 3451 | |
| c.905C>T | p.Pro302Leu | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3452 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3453 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3454 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3455 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3456 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3457 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3458 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3459 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3460 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3461 | |
| c.310T>C | p.Trp104Arg | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3514 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3515 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3516 |
| c.1075T>C | p.Ser359Pro | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3517 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3523 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 3524 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 3525 | |
| c.364G>A | p.Val122Met | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3526 |
| c.[380C>T];[380C>T] | p.[Pro127Leu];[Pro127Leu] | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3527 |
| c.386G>T | p.Gly129Val | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3528 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3529 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3530 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3531 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3532 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3533 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3534 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3535 | |
| c.398G>A | p.Arg133His | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3536 |
| c.398G>A | p.Arg133His | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3537 |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-not certain | Female | 3538 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3540 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 3541 | |
| c.[473C>T];[473C>T] | p.[Thr158Met];[Thr158Met] | missense | MBD | Rett syndrome-not certain | Female | 3542 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3543 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3544 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3545 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3546 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3547 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3548 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3549 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3550 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3551 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3552 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3553 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3554 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3555 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3556 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3557 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-not certain | Female | 3558 | |
| c.913A>G | p.Lys305Glu | missense | TRD | Unknown | Rett syndrome-not certain | Female | 3559 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3560 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3561 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3562 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3563 | |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3564 |
| c.1015T>C | p.Cys339Arg | missense | C-term | Unknown | Rett syndrome-not certain | Female | 3565 |
| c.1072G>A | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3566 |
| c.392C>A | p.Ala131Asp | missense | MBD | Unknown | Rett syndrome-classical | Female | 3623 |
| c.401C>T | p.Ser134Phe | missense | MBD | Unknown | Rett syndrome-classical | Female | 3624 |
| c.467A>C | p.Asp156Ala | missense | MBD | Unknown | Rett syndrome-classical | Female | 3625 |
| c.904C>A | p.Pro302Thr | missense | TRD | Unknown | Rett syndrome-classical | Female | 3626 |
| c.914A>G | p.Lys305Arg | missense | TRD | Unknown | Rett syndrome-classical | Female | 3627 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3628 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3629 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3630 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-classical | Female | 3631 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-classical | Female | 3632 | |
| c.372G>T | p.Leu124Phe | missense | MBD | Unknown | Rett syndrome-classical | Female | 3633 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 3634 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 3635 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 3636 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 3637 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3638 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3639 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3640 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3641 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3642 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3643 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 3644 | |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-classical | Female | 3645 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3646 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3647 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3648 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3649 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3650 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 3651 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 3652 |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 3653 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3654 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3655 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3656 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3657 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3658 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3659 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3660 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3661 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3662 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3663 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3664 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3665 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3666 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3667 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3668 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3669 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3670 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3671 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3672 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3673 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3674 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 3675 | |
| c.905C>A | p.Pro302His | missense | TRD | Unknown | Rett syndrome-classical | Female | 3676 |
| c.905C>A | p.Pro302His | missense | TRD | Unknown | Rett syndrome-classical | Female | 3677 |
| c.905C>G | p.Pro302Arg | missense | TRD | Rett syndrome-classical | Female | 3678 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3679 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3680 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3681 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3682 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3683 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3684 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 3685 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3788 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3789 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 3790 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 3792 | |
| c.[397C>T; 602C>T] | p.[Arg133Cys; Ala201Val] | missense | MBD, inter-domain region | Rett syndrome-male variant | Male | 3794 | |
| c.358T>G | p.Tyr120Asp | missense | MBD | Unknown | Rett syndrome-not certain | Female | 3796 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 3797 | |
| c.1339G>A | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 3801 |
| c.1339G>A | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3802 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 3803 | |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-classical | Female | 3804 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3806 | |
| c.964C>G | p.Pro322Ala | missense | C-term | Unknown | Rett syndrome-classical | Female | 3807 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-autism | Male | 3808 |
| c.1072G>A | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-epileptic encephalopathy | Male | 3810 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-late onset cognitive regression, parkinsonism, neuropsychiatric symptoms | Female | 5302 |
| c.1214C>T | p.Pro405Leu | missense | C-term | Unknown | Not Rett synd.-Mental retardation | Male | 3851 |
| c.454C>G | p.Pro152Ala | missense | MBD | Not Rett synd.-Pervasive developmental disorder-not otherwise specified | Female | 3856 | |
| c.454C>G | p.Pro152Ala | missense | MBD | Not Rett synd.-Not specified | Male | 3857 | |
| c.-156C>T | p.(=) | missense | N-term | Unknown | Rett syndrome-not certain | Female | 3867 |
| c.-160A>G | p.(=) | missense | N-term | Unknown | Rett syndrome-not certain | Female | 3868 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 3873 | |
| c.1373G>A | p.Arg458His | missense | c-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3876 |
| c.925C>T | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd.-mental retardation | Male | 3909 |
| c.[455C>G(;)683C>G] | p.[Pro152Arg(;)Thr228Ser] | missense | MBD, TRD | Rett syndrome-classical | Female | 3910 | |
| c.471C>G | p.Phe157Leu | missense | MBD | Unknown | Rett syndrome-classical | Female | 3913 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3919 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3929 |
| c.815C>T | p.Pro272Leu | missense | TRD | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3930 |
| c.1214C>T | p.Pro405Leu | missense | C-term | Unknown | Not Rett synd.-borderline intelligence | Female | 3933 |
| c.1214C>T | p.Pro405Leu | missense | C-term | Unknown | Not Rett synd.-borderline intelligence and epilepsy | Female | 3934 |
| c.514C>T | p.Pro172Ser | missense | inter-domain region | Unknown | Not Rett synd.-unaffected family member | Female | 3937 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3938 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3939 |
| c.527C>G | p.Pro176Arg | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-NK | Female | 3941 |
| c.527C>G | p.Pro176Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3942 |
| c.527C>G | p.Pro176Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3943 |
| c.527C>G | p.Pro176Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3944 |
| c.1133C>T | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Rett syndrome-NK | Female | 3945 |
| c.1133C>T | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3946 |
| c.1133C>T | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3947 |
| c.1133C>T | p.Ala378Val | missense | C-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3948 |
| c.1436C>T | p.Thr479Met | missense | C-term | Polymorphism not causing disease | Rett syndrome-NK | Female | 3949 |
| c.1436C>T | p.Thr479Met | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3950 |
| c.1436C>T | p.Thr479Met | missense | C-term | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3951 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-NK | Female | 3952 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3953 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3954 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3955 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-NK | Female | 3956 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-NK | Female | 3957 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Rett syndrome-NK | Female | 3958 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3959 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3960 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3961 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3962 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3963 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3964 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3965 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3966 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3967 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3968 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3969 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3970 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3971 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3972 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3973 |
| c.695G>C | p.Gly232Ala | missense | TRD | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Unknown | 3974 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3975 |
| c.815C>T | p.Pro272Leu | missense | TRD | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 3977 |
| c.473C>T | p.Thr158Met | missense | MBD | Not Rett synd.-unaffected family member | Female | 3980 | |
| c.547G>C | p.Gly183Arg | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3981 |
| c.1072G>A | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 3989 |
| c.365T>C | p.Val122Ala | missense | MBD | Unknown | Not Rett synd.- | Male | 4036 |
| c.365T>C | p.Val122Ala | missense | MBD | Unknown | Not Rett synd.- | Female | 4037 |
| c.365T>C | p.Val122Ala | missense | MBD | Unknown | Not Rett synd.- | Female | 4038 |
| c.439G>A | p.Asp147Asn | missense | MBD | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4044 |
| c.1126C>T | p.Pro376Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4045 |
| c.36G>C | p.Lys12Asn | missense | N-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4046 |
| c.1451G>C | p.Arg484Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4047 |
| c.1141C>G | p.Pro381Ala | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4050 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4051 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4052 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4053 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4054 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4055 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-non-Rett syndrome control | Female | 4056 |
| c.683C>G | p.Thr228Ser | missense | TRD | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4057 |
| c.1180G>A | p.Glu394Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4058 |
| c.1180G>A | p.Glu394Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4059 |
| c.1438C>T | p.Pro480Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4060 |
| c.1438C>T | p.Pro480Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4061 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4062 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4063 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4064 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4065 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4066 | |
| c.1126C>T | p.Pro376Ser | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4072 |
| c.1126C>T | p.Pro376Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4073 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4074 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4075 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4076 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4077 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4078 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4088 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4089 | |
| c.1138G>A | p.Val380Met | missense | C-term | Unknown | Not Rett synd.-mental retardation | Female | 4092 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-mental retardation | Female | 4093 |
| c.377A>G | p.Asn126Ser | missense | MBD | Unknown | Not Rett synd.-microcephaly, neonatal seizures | Female | 4094 |
| c.380C>T | p.Pro127Leu | missense | MBD | Unknown | Rett syndrome-classical | Female | 4095 |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 4096 |
| c.482G>T | p.Gly161Val | missense | MBD | Unknown | Rett syndrome-classical | Female | 4097 |
| c.1133C>G | p.Ala378Gly | missense | C-term | Unknown | Rett syndrome-classical | Female | 4099 |
| c.1163C>T | p.Pro388Leu | missense | C-term | Unknown | Rett syndrome-classical | Female | 4100 |
| c.1163C>T | p.Pro388Leu | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 4101 |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4109 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4110 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4111 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4112 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4113 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4114 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4115 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4116 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4117 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4118 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4119 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4120 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4121 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4122 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4123 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4124 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4125 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4126 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4127 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4128 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4135 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4136 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4137 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4138 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4139 | |
| c.515C>T | p.Pro172Leu | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-sporadic mental retardation | Female | 4179 |
| c.515C>T | p.Pro172Leu | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4180 |
| c.473C>T | p.Thr158Met | missense | MBD | Not Rett synd.-autism - pervasive developmental disorder | Female | 5298 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-forme fruste | Female | 5299 | |
| c.[=/316C>T] | p.[=/Arg106Trp] | missense | MBD | Rett syndrome-male variant | Male | 4218 | |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-male variant | Male | 4222 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 4227 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Classical | Female | 4228 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-Atypical | Female | 4229 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Atypical | Female | 4231 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Atypical | Female | 4232 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4233 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4234 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4235 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4236 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4237 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4238 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4239 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4240 | |
| c.[473C>T(;)590C>T] | p.[Thr158Met(;)Thr197Met] | missense | MBD, inter-domain region | Rett syndrome-Classical | Female | 4241 | |
| not certain | p.Phe157Leu | missense | MBD | Unknown | Rett syndrome-Classical | Female | 4244 |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-Classical | Female | 4245 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-Atypical | Female | 4246 | |
| c.400T>C | p.Ser134Pro | missense | MBD | Unknown | Rett syndrome-Classical | Female | 4247 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 4248 | |
| c.[398G>T(;)602C>T] | p.[Arg133Leu(;)Ala201Val] | missense | MBD, inter-domain region | Unknown | Rett syndrome-Classical | Female | 4250 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4275 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Atypical | Female | 4276 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Atypical | Female | 4277 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4278 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4279 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4280 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4281 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4282 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4283 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-Classical | Female | 4284 | |
| c.[590C>T(;)916C>T] | p.[Thr197Met(;)Arg306Cys] | missense | inter-domain region, TRD | Rett syndrome-Classical | Female | 4285 | |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-Classical | Female | 4287 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4301 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4302 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4303 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4304 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4310 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4312 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4314 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 4315 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 4319 |
| c.289G>T | p.Asp97Tyr | missense | MBD | Unknown | Rett syndrome-Classical | Female | 4346 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 4359 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Atypical | Female | 4360 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-Classical | Female | 4361 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-Classical | Female | 4363 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4364 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4365 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Atypical | Female | 4366 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4367 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4368 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Atypical | Female | 4369 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-Classical | Female | 4370 | |
| c.153C>G | p.His51Gln | missense | N-term | Unknown | Not Rett synd.-unaffected family member | Female | 4393 |
| c.413T>C | p.Leu138Ser | missense | MBD | Unknown | Rett syndrome-classical | Female | 4394 |
| c.308G>A | p.Gly103Asp | missense | MBD | Unknown | Rett syndrome-atypical | Female | 4395 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 4398 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 4399 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 4400 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 4401 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-unaffected family member | Female | 4402 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-unaffected family member | Female | 4403 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-unaffected family member | Female | 4404 |
| c.419C>T | p.Ala140Val | missense | MBD | Unknown | Not Rett synd.-unaffected family member | Female | 4405 |
| c.224C>T | p. Pro75Leu | missense | N-term | Unknown | Not Known | Female | 4425 |
| c.302C>G | p.Pro101Arg | missense | MBD | Unknown | Not Known | Female | 4426 |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4427 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Known | Female | 4428 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4429 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4430 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4431 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4432 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4433 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4434 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4435 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 4436 | |
| c.401C>G | p.Ser134Cys | missense | MBD | Not Known | Female | 4437 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Not Known | Female | 4438 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Not Known | Female | 4439 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Not Known | Female | 4440 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Not Known | Female | 4441 | |
| c.464T>G | p.Phe155Cys | missense | MBD | Unknown | Not Known | Female | 4442 |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Not Known | Female | 4443 |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Not Known | Female | 4444 |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4447 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4448 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4449 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4450 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4451 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4452 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Unknown | 4453 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4454 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4455 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4456 | |
| c.473C>T | p.Thr158Met | missense | MBD | Not Known | Female | 4457 | |
| c.499C>T | p.Arg167Trp | missense | inter-domain region | Not Known | Female | 4458 | |
| c.499C>T | p.Arg167Trp | missense | inter-domain region | Not Rett synd.-unaffected family member | Female | 4459 | |
| c.499C>T | p.Arg167Trp | missense | inter-domain region | Not Known | Female | 4460 | |
| c.518C>G | p.Pro173Arg | missense | inter-domain region | Unknown | Not Known | Female | 4466 |
| c.518C>G | p.Pro173Arg | missense | inter-domain region | Unknown | Not Rett synd.-unaffected family member | Female | 4467 |
| c.518C>G | p.Pro173Arg | missense | inter-domain region | Unknown | Not Known | Female | 4468 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Not Known | Female | 4471 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4472 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Not Known | Female | 4473 |
| c.673C>A | p.Pro225Thr | missense | TRD | Not Known | Female | 4474 | |
| c.686C>T | p.Ser229Leu | missense | TRD | Polymorphism not causing disease | Not Known | Female | 4476 |
| c.686C>T | p.Ser229Leu | missense | TRD | Polymorphism not causing disease | Not Known | Male | 4477 |
| c.857A>G | p.Lys286Arg | missense | TRD | Unknown | Not Known | Female | 4498 |
| c.911A>G | p.Lys304Arg | missense | TRD | Unknown | Not Known | Female | 4506 |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4507 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4508 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4509 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4510 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 4511 | |
| c.917G>A | p.Arg306His | missense | TRD | Not Known | Female | 4512 | |
| c.1288C>T | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Rett syndrome-male variant | Male | 4588 |
| c.1288C>T | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4589 |
| c.1288C>T | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4590 |
| c.1288C>T | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4591 |
| c.1288C>T | p.Pro430Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4592 |
| c.992A>G | p.Lys331Arg | missense | C-term | Polymorphism not causing disease | Rett syndrome-congenital | Female | 4593 |
| c.992A>G | p.Lys331Arg | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4594 |
| c.1339G>A | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-schizophrenia | Female | 4604 |
| c.1339G>A | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4605 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-autism spectrum disorder | Unknown | 4610 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-schizophrenia | Unknown | 4611 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-schizophrenia | Unknown | 4612 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 4613 |
| c.985G>A | p.Gly329Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-schizophrenia | Male | 4615 |
| c.985G>A | p.Gly329Ser | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 4616 |
| c.925C>T | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd.-autism spectrum disorder | Female | 4618 |
| c.596C>A | p.Pro199His | missense | inter-domain region | Unknown | Not Rett synd.-schizophrenia | Female | 4620 |
| c.587C>G | p.Thr196Ser | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-schizophrenia | Unknown | 4621 |
| c.1250A>T | p.Lys417Met | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 4675 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 4728 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 4729 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 4730 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-not certain | Female | 4731 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4732 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4733 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4734 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4735 | |
| c.401C>T | p.Ser134Phe | missense | MBD | Unknown | Rett syndrome-not certain | Female | 4737 |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-not certain | Female | 4738 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-not certain | Female | 4739 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4740 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4741 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4742 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4743 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4744 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4745 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-not certain | Female | 4746 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4747 | |
| c.925C>T | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd.-psychomotor delay and absence of speech | Male | 4748 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4751 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4752 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 4757 |
| c.153C>G | p.His51Gln | missense | N-term | Unknown | Not Rett synd.-unaffected family member | Female | 4788 |
| c.479C>G | p.Thr160Ser | missense | MBD | Unknown | Not Rett synd.-autism | Male | 4796 |
| c.1065C>A | p.Ser355Arg | missense | C-term | Unknown | Rett syndrome-classical | Female | 4802 |
| c.1030C>G | p.Arg344Gly | missense | C-term | Unknown | Rett syndrome-classical | Female | 4803 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 4808 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-atypical | Female | 4809 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4810 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-classical | Female | 4812 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4816 | |
| c.964C>G | p.Pro322Ala | missense | C-term | Unknown | Rett syndrome-classical | Female | 4817 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-not certain | Female | 4819 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 4828 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 4829 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 4830 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 4831 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 4832 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 4833 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 4834 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 4835 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4836 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4837 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4838 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4839 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4840 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4841 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 4848 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Unknown | Rett syndrome-classical | Female | 4849 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-classical | Female | 4858 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-atypical | Female | 4859 |
| c.608C>T | p.Thr203Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Male | 4860 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-atypical | Female | 4861 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 4865 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-atypical | Female | 4867 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4868 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4869 | |
| c.898G>A | p.Val300Ile | missense | TRD | Unknown | Not Rett synd.-autism | Female | 4880 |
| c.898G>A | p.Val300Ile | missense | TRD | Unknown | Not Rett synd.-unaffected family member | Female | 4881 |
| c.909C>G | p.Ile303Met | missense | TRD | Unknown | Not Rett synd.-nonspecific mental retardation | Female | 4882 |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4883 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4884 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4885 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 4886 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 4887 | |
| c.932C>T | p.Thr311Met | missense | C-term | Unknown | Not Rett synd.-nonspecific mental retardation | Female | 4888 |
| c.932C>T | p.Thr311Met | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 4889 |
| c.1030C>T | p.Arg344Trp | missense | C-term | Unknown | Rett syndrome-atypical | Female | 4891 |
| c.1072G>A | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-nonspecific mental retardation | Female | 4892 |
| c.1072G>A | p.Ala358Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 4893 |
| c.1151C>T | p.Pro384Leu | missense | C-term | Unknown | Not Rett synd.-nonspecific mental retardation | Female | 4894 |
| c.1151C>T | p.Pro384Leu | missense | C-term | Unknown | Not Rett synd.- | Female | 4895 |
| c.1151C>T | p.Pro384Leu | missense | C-term | Unknown | Not Rett synd.-nonspecific mental retardation | Female | 4896 |
| c.1327G>A | p.Ala443Thr | missense | C-term | Unknown | Not Rett synd.-nonspecific mental retardation | Male | 4897 |
| c.1327G>A | p.Ala443Thr | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 4898 |
| c.1441G>A | p.Val481Met | missense | C-term | Unknown | Rett syndrome-classical | Female | 4899 |
| c.298C>G | p.Leu100Val | missense | MBD | Unknown | Rett syndrome-not certain | Female | 4903 |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 4904 | |
| not certain | p.Phe157Leu | missense | MBD | Unknown | Rett syndrome-not certain | Female | 4905 |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4906 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4907 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4908 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4909 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 4910 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 4917 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4918 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 4919 | |
| c.905C>G | p.Pro302Arg | missense | TRD | Rett syndrome-not certain | Female | 4920 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 4923 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 4924 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 5045 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-not certain | Female | 5046 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 5047 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-not certain | Female | 5048 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 5051 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 5052 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-not certain | Female | 5053 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-not certain | Female | 5054 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 5067 | |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5068 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5069 |
| c.590C>T | p.Thr197Met | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5076 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-autism | Male | 5077 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 5078 |
| c.602C>T | p.Ala201Val | missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-depressive disease | Male | 5079 |
| c.398G>A | p.Arg133His | missense | MBD | Unknown | Rett syndrome-atypical | Female | 5112 |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 5123 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Not Rett synd.-Rett-like | Female | 5124 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 5125 | |
| c.925C>T | p.Arg309Trp | missense | TRD | Unknown | Not Rett synd.-intellectual disability | Female | 5132 |
| c.431A>G | p.Lys144Arg | missense | MBD | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 5185 |
| c.633G>C | p.Arg211Ser | missense | TRD | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5189 |
| c.683C>G | p.Thr228Ser | missense | TRD | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5190 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5211 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Rett syndrome-not certain | Female | 5212 |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5213 |
| c.1196C>T | p.Pro399Leu | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5214 |
| c.1234G>A | p.Val412Ile | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5219 |
| c.1234G>A | p.Val412Ile | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5220 |
| c.1339G>A | p.Ala447Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Unknown | 5224 |
| c.1433G>A | p.Arg478Gln | missense | C-term | Polymorphism not causing disease | Not Rett synd.-normal control | Female | 5225 |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-preserved speech | Female | 5234 | |
| c.832G>A | p.Ala278Thr | missense | TRD | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 5236 |
| c.1180G>A | p.Glu394Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Male | 5237 |
| c.[905C>T;917G>A] | p.[Pro302Leu;Arg306His] | missense | TRD | Rett syndrome-not certain | Female | 5240 | |
| c.925C>T | p.Arg309Trp | missense | TRD | Unknown | Rett syndrome-atypical | Female | 5325 |
| c.605G>A | p.Ala202His | Missense | Inter-domain | Unknown | Rett syndrome-atypical | Female | 5330 |
| c.1449G>A | p.(=) | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6872 |
| c.1330G>A | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6871 | |
| c.1330G>A | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6870 | |
| c.1330G>A | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6869 | |
| c.1189G>A | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6867 | |
| c.1189G>A | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6866 | |
| c.1133C>G | Missense | C-term | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6864 | |
| c.683C>G | Missense | TRD | Polymorphism not causing disease | Rett syndrome-classical | Female | 6857 | |
| c.683C>G | Missense | TRD | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6856 | |
| c.587C>G | Missense | inter-domain region | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6855 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 6876 | |
| c.880C>T | p.Arg294* | Missense | TRD | Not Known | Female | 6761 | |
| c.392C>A | p.Ala131Asp | missense | MBD | Rett syndrome-classical | Female | 6760 | |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-classical | Female | 6759 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-atypical | Female | 6751 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6750 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Known | Female | 6749 | |
| c.674C>G | p.Pro225Arg | missense | TRD | Not Known | Female | 6739 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6736 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6735 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6733 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-congenital onset | Female | 6734 | |
| c.468C>G | p.Asp156Glu | missense | MBD | Rett syndrome-classical | Female | 6732 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6731 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6730 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Known | Female | 6729 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 6727 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6728 | |
| c.-160A>T | p.(=) | missense | exon 1 | Rett syndrome-classical | Female | 6625 | |
| c.-156C>T | p.(=) | missense | exon 1 | Rett syndrome-classical | Female | 6623 | |
| c.-156C>T | p.(=) | missense | exon 1 | Not Rett synd.-mental retardation | Female | 6622 | |
| c.377A>T | p.Asn126Ile | missense | MBD | Unknown | Not Rett synd.-infant-onset encephalopathy | Male | 6620 |
| c.1250A>T | p.Lys417Met | missense | C-term | Unknown | Not Rett synd.-infant-onset encephalopathy | Male | 6619 |
| c.403A>G | p.Lys135Glu | missense | MBD | Unknown | Rett syndrome-preserved speech | Female | 6618 |
| c.914A>C | p.Lys305Thr | missense | TRD | Unknown | Rett syndrome-classical | Female | 6617 |
| c.961A>G | p.Lys321Glu | missense | C-term | Unknown | Rett syndrome-classical | Female | 6616 |
| c.1141C>T | p.Pro381Ser | missense | C-term | Unknown | Rett syndrome-preserved speech | Female | 6615 |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Rett synd.-mental retardation | Female | 6601 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Not Rett synd.-mental retardation | Male | 6600 | |
| c.298C>G | p.Leu100Val | missense | MBD | Unknown | Rett syndrome-classical | Female | 6599 |
| c.302C>G | p.Pro101Arg | missense | MBD | Unknown | Rett syndrome-classical | Female | 6598 |
| c.302C>G | p.Pro101Arg | missense | MBD | Unknown | Rett syndrome-classical | Female | 6597 |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-classical | Female | 6596 | |
| c.401C>G | p.Ser134Cys | missense | MBD | Rett syndrome-classical | Female | 6595 | |
| c.401C>T | p.Ser134Phe | missense | MBD | Unknown | Rett syndrome-classical | Female | 6594 |
| c.499C>T | p.Arg167Trp | missense | Inter-domain | Not Rett synd.-x-linked mental retardation | Male | 6591 | |
| c.518C>G | p.Pro173Arg | missense | Inter-domain | Unknown | Not Rett synd.-unaffected family member | Female | 6590 |
| c.[518C>G(;)678delT] | p.[Pro173Arg(;)Gln227fs] | missense | inter-domain, TRD | Rett syndrome-classical | Female | 6589 | |
| c.535C>T | p.Pro179Ser | missense | inter-domain | Unknown | Not Rett synd.-mental retardation | Female | 6588 |
| c.674C>G | p.Pro225Arg | missense | TRD | Rett syndrome-classical | Female | 6585 | |
| CDKL5: c.119C>T | CDKL5: p.A40V | missense | CDKL5 | Not Rett synd.-congenital onset | Female | 6582 | |
| c.1132G>T | p.Ala378Ser | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Female | 6581 |
| c.1132G>T | p.Ala378Ser | missense | C-term | Unknown | Not Rett synd.-developmental delay | Male | 6580 |
| c.1210G>A | p.Glu404Lys | missense | C-term | Unknown | Rett syndrome-classical | Female | 6579 |
| c.317G>A | p.Arg106Gln | missense | MBD | Rett syndrome-classical | Female | 6577 | |
| c.398G>C | p.Arg133Pro | missense | MBD | Rett syndrome-classical | Female | 6576 | |
| c.1114C>T | p.His372Tyr | missense | C-term | Unknown | Not Known | Female | 6575 |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Rett synd.-mental retardation | Female | 6574 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6573 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6572 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6571 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6570 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6569 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6568 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6567 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6566 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6565 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Rett syndrome-classical | Female | 6564 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6563 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6562 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6561 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6560 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6559 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6558 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6557 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6556 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6555 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6554 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6553 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6552 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6551 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6550 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6549 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6548 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6547 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6546 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6545 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6544 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6543 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6542 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6541 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6540 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6539 | |
| c.397C>T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6538 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6537 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6536 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6535 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6534 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6533 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6532 | |
| c.455C>G | p.Pro152Arg | missense | MBD | Rett syndrome-classical | Female | 6531 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6530 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6529 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6528 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6527 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6526 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6525 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6524 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6523 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6522 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6521 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6520 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6519 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6518 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6517 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6516 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6515 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6514 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6513 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6512 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6511 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6510 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6509 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6508 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6507 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6506 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6505 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6504 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6503 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 6502 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6384 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6383 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6382 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Rett synd.-mental retardation and autism | Female | 6381 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6380 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6379 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6378 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6377 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6376 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6374 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6375 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-forme fruste | Female | 6373 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6372 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Rett synd.-sporadic mental retardation | Female | 6371 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6370 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6369 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6367 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6368 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6366 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6365 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6364 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6363 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6361 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Rett synd.-sporadic mental retardation | Female | 6362 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6360 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6359 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6358 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6357 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6356 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 6355 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Not Rett synd.-sporadic mental retardation | Female | 6354 | |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-classical | Female | 6349 |
| c.965C>T | p.Pro322Leu | missense | C-term | Unknown | Rett syndrome-classical | Female | 6348 |
| c.469T>A | p.Phe157Ile | missense | MBD | Rett syndrome-classical | Female | 6342 | |
| c.-159T>C | p.(=) | missense | N-term | Rett syndrome-classical | Female | 6343 | |
| c.-395G>T | Missense | 5'UTR | Polymorphism not causing disease | Not Rett synd.-mental retardation | Female | 6839 | |
| c.1189G>A | p.Glu397Lys | missense | C-term | Polymorphism not causing disease | Not Rett synd.-not certain | Female | 6914 |
| c.419C>T | p.Ala140Val | missense | MBD | Not Rett synd.-x-linked mental retardation | Male | 6913 | |
| c.608C>T | p.Thr203Met | missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.-not certain | Male | 6911 |
| c.1255C>T | p.Pro419Ser | missense | C-term | Unknown | Not Rett synd.-not certain | Female | 6912 |
| c.1193A>C | p.Asp398Ala | missense | C-term | Polymorphism not causing disease | Not Rett synd.-not certain | Male | 6910 |
| c.1316C>T | p.Ala439Val | missense | C-term | Polymorphism not causing disease | Not Rett synd.-unaffected family member | Female | 6909 |
| c.590C>T | p.Thr197Met | missense | Inter-domain region | Polymorphism not causing disease | Not Rett synd.- | Female | 6908 |
| c.426C>T | p.Phe142Phe | missense | MBD | Silent polymorphism | Not Rett synd.-not certain | Male | 6907 |
| c.1189G>A | p.(Glu397Lys) | missense | C-term | Polymorphism not causing disease | Not Rett synd.-not certain | Female | 6905 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Not Rett synd.- | Female | 6906 |
| c.1358G>A | p.Arg453Gln | missense | C-term | Unknown | Not Known | Female | 6904 |
| c.752C>G | p.Pro251Arg | missense | TRD | Unknown | Not Known | Female | 6903 |
| c.1330G>A | p.Ala444Thr | missense | C-term | Polymorphism not causing disease | Not Known | Female | 6896 |
| c.602C>T | p.(Ala201Val) | missense | TRD | Polymorphism not causing disease | Not Known | Male | 6898 |
| c.617G>C | p.(Gly206Ala) | missense | TRD | Unknown | Not Known | Female | 6900 |
| c.1417G>C | p.(Glu473Gln) | missense | C-term | Unknown | Not Rett synd.-unaffected family member | Male | 6901 |
| c.397C > T | p.Arg133Cys | missense | MBD | Rett syndrome-preserved speech | Female | 6994 | |
| c.397C > T | p.Arg133Cys | missense | MBD | Not Rett synd.-x-linked mental retardation | Male | 6995 | |
| c.916C > T | p.Arg306Cys | missense | TRD | Rett syndrome-preserved speech | Female | 6996 | |
| c.397C > T | p.Arg133Cys | missense | MBD | Rett syndrome-classical | Female | 6997 | |
| c.1373G>A | p.(Arg458His) | missense | C-term | Unknown | Not Rett synd.-x-linked mental retardation | Male | 6999 |
| c.441C > G | p.Asp147Glu | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 7000 |
| c.441C > G | p.Asp147Glu | missense | MBD | Unknown | Not Rett synd.-x-linked mental retardation | Male | 7001 |
| c.455C>T | p.Pro152Leu | missense | MBD | Not Rett synd.-autism only | Female | 7002 | |
| c.1162C>T | p.Pro388Ser | missense | C-term | Unknown | Not Rett synd.-autism only | Male | 7003 |
| c.473C > T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 7010 | |
| c.473C > T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 7011 | |
| c.473C > T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 7012 | |
| c.473C > T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 7013 | |
| c.917G > A | p.Arg306His | missense | TRD | Rett syndrome-classical | Female | 7030 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 7031 | |
| c.427G>A | p.Glu143Lys | missense | MBD | Rett syndrome-classical | Female | 7032 | |
| c.473C>T | p.Thr158Met | missense | MBD | Rett syndrome-classical | Female | 7034 | |
| c.916C>T | p.Arg306Cys | missense | TRD | Rett syndrome-classical | Female | 7035 | |
| c.905C>G | p.Pro302Arg | missense | TRD | Rett syndrome-classical | Female | 7036 | |
| c.316C>T | p.Arg106Trp | missense | MBD | Not Rett synd.-progressive encephalopathy of neonatal onset | Male | 7040 | |
| c.[1451G>C];[*98dupA] | p.[Arg484Thr];[=] | missense, 3'UTR | C-term, 3'UTR | Polymorphism not causing disease | Rett syndrome-classical | Female | 3048 |
| c.[1189G>A(;)*55C>G] | "p.Glu397Lys, 3'UTR variation" | Missense, 3'UTR variation | C-term, 3'UTR | Polymorphism not causing disease | Not Known | Female | 2055 |
| c.[916C>T(;)*98dupA] | "p.Arg306Cys, 3'UTR variation" | missense, 3'UTR variation | TRD, 3'UTR | Rett syndrome-classical | Female | 4299 | |
| c.[473C>T(;)*14G>A] | "p.Thr158Met, 3'UTR variation" | missense, 3'UTR variation | MBD, 3'UTR | Rett syndrome-Atypical | Female | 4340 | |
| c.[964C>G(;)*98dupA] | p.Pro322Ala | missense, 3'UTR variation | C-term | Unknown | Rett syndrome-classical | Female | 6346 |
| c.[752C>T];[1038_1191del154] | p.[Pro251Leu];[Ser346fs] | Missense, frameshift insertion or deletion | TRD, C-term | Rett syndrome-Not certain | Unknown | 131 | |
| c.[397C>T; 1164_1207del44] | p.[Arg133Cys; Pro389*] | Missense, frameshift insertion or deletion | MBD, C-term | Rett syndrome-Atypical | Female | 2225 | |
| c.[343C>T(;)1075_1178del104] | p.[Arg115Cys(;)Ser359fs] | missense, frameshift insertion or deletion | MBD, C-term | Rett syndrome-classical | Female | 3852 | |
| c.[401C>G;1168_1173del6] | p.[Ser134Cys;Pro390_Pro391del] | missense, in-frame insertion or deletion | MBD, C-term | Rett syndrome-not certain | Female | 5249 | |
| c.[401C>G; 1168_1173del6] | p.[Ser134Cys; Pro390_Pro391del] | missense, in-frame insertion or deletion | MBD, C-term | Rett syndrome-classical | Female | 6613 | |
| c.[608C>T(;)763C>T] | p.[Thr203Met(;)Arg255*] | Missense, nonsense | inter-domain region, TRD | Rett syndrome-Classical | Female | 475 | |
| c.[802C>T(;) 808C>T] | p.[Arg268Trp(;) Arg270*] | Missense, nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1236 | |
| c.[710G>T(;)763C>T] | p.[Gly237Val(;)Arg255*] | missense, nonsense | TRD | Rett syndrome-Classical | Female | 2460 | |
| c.[535C>T(;) 763C>T] | p.[Pro179Ser(;) Arg255*] | missense, nonsense | inter-domain region, TRD | Unknown | Rett syndrome-classical | Female | 4795 |
| c.[965C>T(;)999G>T] | p.[Pro322Leu(;)Gly333Gly] | Missense, silent | C-term | Unknown | Rett syndrome-Not certain | Female | 122 |
| c.[397C>T(;)438C>T] | p.[Arg133Cys(;)Gly146Gly] | Missense, silent | MBD | Rett syndrome-Classical | Female | 440 | |
| c.[916C>T(;)984C>T] | p.[Arg306Cys(;)Leu328Leu] | Missense, silent | TRD, C-term | Rett syndrome-Classical | Female | 473 | |
| c.[316C>T(;)1233C>T] | p.[Arg106Trp(;)Ser411Ser] | missense, silent | MBD, C-term | Rett syndrome-Classical | Female | 4226 | |
| c.[473C>T(;)1233C>T] | p.[Thr158Met(;)Ser411Ser] | missense, silent | MBD, C-term | Rett syndrome-Classical | Female | 4242 | |
| c.[473C>T(;)1335G>A] | p.[Thr158Met(;)Thr445Thr] | missense, silent | MBD, C-term | Rett syndrome-Classical | Female | 4243 | |
| c.[397C>T(;)1233C>T] | p.[Arg133Cys(;)Ser411Ser] | missense, silent | MBD, C-term | Rett syndrome-Atypical | Female | 4249 | |
| c.[916C>T(;)1233C>T] | p.[Arg306Cys(;)Ser411Ser] | missense, silent | TRD, C-term | Rett syndrome-Classical | Female | 4286 | |
| c.[455C>G(;)582C>T] | p.[Pro152Arg(;)Ser194Ser] | missense, silent | MBD, inter-domain region | Rett syndrome-Atypical | Female | 4339 | |
| c.[397C>T(;) 582C>T] | p.[Arg133Cys(;) Ser194Ser] | missense, silent | MBD, inter-domain region | Rett syndrome-not certain | Female | 4736 | |
| [c.695 G > T; c.880C > T] | p.[Gly232Val;Arg294*] | missense,nonsense | TRD | Rett syndrome- | Female | 7009 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 8 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 27 | |
| c.730C>T | p.Gln244* | Nonsense | TRD | Rett syndrome-Not certain | Female | 31 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 80 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 81 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 82 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 83 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 84 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 85 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 86 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 87 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 88 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 89 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 90 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 91 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 92 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 93 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 94 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 95 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 96 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 97 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 98 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 99 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 100 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 101 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 102 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Preserved speech | Female | 110 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 111 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 112 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 113 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 114 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 115 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 116 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 117 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 118 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 119 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 130 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 142 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 148 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 173 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 174 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 175 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 176 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 177 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 178 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 179 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 180 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 181 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 182 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 183 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 184 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 195 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 196 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 197 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 198 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 199 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 200 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 201 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 202 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 203 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 204 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 213 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 214 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 215 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 216 | |
| c.146C>A | p.Ser49* | Nonsense | N-term | Rett syndrome-Not certain | Unknown | 236 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 237 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 238 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 239 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 240 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 241 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 242 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 243 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 244 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 245 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 246 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 247 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 248 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 249 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 250 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 251 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 252 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 270 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 271 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 272 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 273 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 274 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 275 | |
| c.613G>T | p.Glu205* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 276 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 277 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 278 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 279 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 280 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 281 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 282 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 283 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 300 | |
| c.508C>T | p.Gln170* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 301 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 303 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 304 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 305 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 306 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 307 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 310 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 311 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 312 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 313 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 314 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 315 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 316 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 317 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Classical | Female | 330 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 332 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 333 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 334 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 336 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 337 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 338 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 339 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 340 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 341 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 343 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 344 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 345 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 346 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 356 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 357 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 358 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 360 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 371 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 378 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 382 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 387 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 388 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 389 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 390 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 392 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 393 | |
| c.[880C>T(;)1430G>C] | p.[Arg294*(;)Ser477Thr] | Nonsense | TRD | Rett syndrome-Atypical | Female | 396 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 397 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 401 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 403 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 407 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 408 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 410 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 412 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 416 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 417 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 420 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 421 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 425 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 427 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 428 | |
| c.598A>T | p.Lys200* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 430 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 444 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 455 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 457 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 458 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 460 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 462 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 464 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 471 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 477 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 478 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 480 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 481 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 948 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 947 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 945 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 943 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 941 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 940 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 937 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 935 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 931 | |
| c.592A>T | p.Arg198* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 930 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 926 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 925 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 923 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 922 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 920 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Forme fruste | Unknown | 909 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 907 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 908 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 905 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 906 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 903 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 904 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Unknown | 901 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Unknown | 902 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Unknown | 898 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome- | Unknown | 899 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Unknown | 896 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Unknown | 897 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 894 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Unknown | 895 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 892 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 893 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 891 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Classical | Unknown | 882 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Classical | Unknown | 883 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 877 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 876 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 875 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 874 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 873 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 872 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 871 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 870 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 869 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Unknown | 842 | |
| c.1216C>T | p.Gln406* | Nonsense | C-term | Not Rett synd.-X-linked mental retardation | Male | 838 | |
| c.1216C>T | p.Gln406* | Nonsense | C-term | Not Rett synd.-Unaffected family member | Female | 1542 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Not certain | Female | 1063 | |
| c.430A>T | p.Lys144* | Nonsense | MBD | Rett syndrome-Not certain | Female | 1064 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1065 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1066 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1067 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1068 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1069 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1070 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1071 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1072 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1073 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1074 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1075 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1076 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1077 | |
| c.508C>T | p.Gln170* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1078 | |
| c.611C>G | p.Ser204* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1079 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1080 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1081 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1082 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1083 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1084 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1085 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1086 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1087 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1088 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1089 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1090 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1091 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1092 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1093 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1094 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1095 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1096 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1097 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1098 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1099 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1100 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1101 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1102 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1103 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1104 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1105 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1106 | |
| c.1079C>A | p.Ser360* | Nonsense | C-term | Rett syndrome-Not certain | Female | 1107 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1146 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1147 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Rett synd.-Progressive encephalopathy of neonatal onset | Female | 1149 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Not Rett synd.-Angelman syndrome | Female | 1154 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1156 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1157 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1158 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1159 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1160 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1161 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1162 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1166 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1167 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1168 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1169 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1198 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1207 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1208 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1211 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1213 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1216 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1220 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1227 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1228 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1229 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1230 | |
| c.[763C>T(;)1449G>C] | p.[Arg255*(;)Glu483Asp] | Nonsense | TRD, C-term | Rett syndrome-Classical | Female | 1235 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1253 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1260 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1261 | |
| c.55C>T | p.Gln19* | Nonsense | N-term | Rett syndrome-Atypical | Female | 1264 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1307 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1308 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1309 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1310 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1311 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1312 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1313 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1314 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1315 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1316 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1317 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1318 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1319 | |
| c.508C>T | p.Gln170* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1320 | |
| c.613G>T | p.Glu205* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Unknown | 1321 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1322 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1323 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1324 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1325 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1326 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1327 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1328 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1329 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1330 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1331 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1332 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1333 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1334 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1335 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1336 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1337 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1338 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1339 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Unknown | 1340 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1341 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1342 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1343 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1344 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1345 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1346 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1347 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1348 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1349 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1350 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1351 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1352 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1353 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1354 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1377 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1378 | |
| c.64A>T | p.Lys22* | Nonsense | N-term | Rett syndrome-Classical | Female | 1404 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1405 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1406 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1407 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1408 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1409 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1410 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1411 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1412 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1413 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1414 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1415 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1416 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1417 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1418 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1419 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1420 | |
| c.889C>T | p.Gln297* | Nonsense | TRD | Rett syndrome-Classical | Female | 1421 | |
| c.889C>T | p.Gln297* | Nonsense | TRD | Rett syndrome-Classical | Female | 1422 | |
| c.[423C>G];[=] | p.[Tyr141*];[=] | Nonsense | MBD | Rett syndrome-Male variant | Male | 1434 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Male variant | Male | 1435 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1445 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1446 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1447 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1448 | |
| c.622C>T | p.Gln208* | Nonsense | TRD | Rett syndrome-Classical | Female | 1449 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1450 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1451 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 1453 | |
| c.64A>T | p.Lys22* | Nonsense | N-term | Rett syndrome-Classical | Female | 1459 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Classical | Female | 1461 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 1467 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1469 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1470 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1471 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1472 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 1473 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1474 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1475 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 1476 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1485 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1486 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1487 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1488 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1489 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Unknown | 1490 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1491 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1492 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Rett synd.-Unaffected family member | Female | 1493 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Unknown | 1494 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Unknown | 1510 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Unknown | 1511 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Unknown | 1512 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Unknown | 1513 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Unknown | 1514 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-classical | Unknown | 1515 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-classical | Unknown | 1516 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-classical | Unknown | 1517 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-classical | Unknown | 1518 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-atypical | Unknown | 1519 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-classical | Unknown | 1521 | |
| c.1216C>T | p.Gln406* | Nonsense | C-term | Not Rett synd.-X-linked mental retardation | Male | 1543 | |
| c.1216C>T | p.Gln406* | Nonsense | C-term | Not Rett synd.-Unaffected family member | Female | 1544 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1591 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1595 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1601 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1602 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1604 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1605 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1608 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1619 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1623 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1626 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1642 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1643 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1656 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1660 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1664 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1667 | |
| c.529A>T | p.Lys177* | Nonsense | Inter-domain region | Not Known | Female | 1674 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1676 | |
| c.46C>T | p.Gln16* | Nonsense | N-term | Not Known | Female | 1678 | |
| c.523A>T | p.Lys175* | Nonsense | Inter-domain region | Not Known | Female | 1679 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1681 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1683 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1684 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1688 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1689 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1690 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1691 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1692 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1694 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1696 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1697 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1701 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1703 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1709 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1710 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1714 | |
| c.1087A>T | p.Lys363* | Nonsense | C-term | Not Known | Female | 1717 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1718 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1720 | |
| c.611C>G | p.Ser204* | Nonsense | Inter-domain region | Not Known | Female | 1726 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1728 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1730 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1731 | |
| c.194C>G | p.Ser65* | Nonsense | N-term | Not Known | Female | 1732 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1733 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1738 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1739 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1747 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1750 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1753 | |
| c.146C>A | p.Ser49* | Nonsense | N-term | Not Known | Female | 1755 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1759 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1760 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1761 | |
| c.46C>T | p.Gln16* | Nonsense | N-term | Not Known | Female | 1762 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1769 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1772 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1775 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1781 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1782 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 1783 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1784 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1785 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1786 | |
| c.760A>T | p.Lys254* | Nonsense | TRD | Not Known | Female | 1790 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 1791 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1796 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1797 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 1800 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1803 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 1804 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1821 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1828 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1831 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1840 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1849 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1854 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1860 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1861 | |
| c.598A>T | p.Lys200* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1862 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1868 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1889 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 1890 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1892 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1893 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1898 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1901 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 1902 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Female | 1920 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Female | 1921 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Female | 1922 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-classical | Female | 1925 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-atypical | Female | 1928 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-classical | Female | 1934 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-atypical | Female | 1936 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-classical | Female | 1937 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Female | 1938 | |
| c.611C>G | p.Ser204* | Nonsense | Inter-domain region | Rett syndrome-atypical | Female | 1943 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Female | 1944 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-atypical | Female | 1949 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-classical | Female | 1953 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-atypical | Female | 1954 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-classical | Female | 1955 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-classical | Female | 1956 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-classical | Female | 1957 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-classical | Female | 1958 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-atypical | Female | 1960 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Female | 1962 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-classical | Female | 1963 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 1968 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Not Known | Female | 2012 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 2017 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 2018 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 2020 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 2022 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 2031 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 2034 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Not Known | Female | 2036 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Not Known | Female | 2042 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 2048 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 2052 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Not Known | Female | 2064 | |
| c.865A>T | p.Lys289* | Nonsense | TRD | Rett syndrome-Classical | Female | 2105 | |
| c.1087A>T | p.Lys363* | Nonsense | C-term | Rett syndrome-Classical | Female | 2106 | |
| c.730C>T | p.Gln244* | Nonsense | TRD | Rett syndrome-Classical | Female | 2192 | |
| c.730C>T | p.Gln244* | Nonsense | TRD | Rett syndrome-Classical | Female | 2193 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2227 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2228 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2229 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 2230 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2231 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Not certain | Female | 2232 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2233 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2234 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2235 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2236 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2237 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2238 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2239 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2240 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2241 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2242 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2243 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2244 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2245 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2247 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2248 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2249 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2250 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2251 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2252 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2253 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2254 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Atypical | Female | 2255 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2256 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2257 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2258 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2259 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2260 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2261 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2262 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2263 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2264 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2265 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2266 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2267 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2268 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2269 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2270 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2271 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2272 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2273 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2274 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2275 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2276 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2277 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2278 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2279 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2280 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2281 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2282 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2283 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Atypical | Female | 2284 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2285 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2286 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2289 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2290 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2291 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2292 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 2293 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 2294 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2295 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2296 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Not certain | Female | 2297 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2298 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 2299 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2300 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2301 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2302 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2303 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2304 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2305 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 2306 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2307 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2308 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Atypical | Female | 2309 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2310 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2311 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2312 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Atypical | Female | 2313 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2314 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Not certain | Female | 2315 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2316 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2317 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2318 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2319 | |
| Not known | p.Ser373* | Nonsense | C-term | Rett syndrome-Atypical | Female | 2337 | |
| c.146C>A | p.Ser49* | Nonsense | N-term | Rett syndrome-Atypical | Female | 2338 | |
| c.311G>A | p.Trp104* | Nonsense | MBD | Rett syndrome-Classical | Female | 2367 | |
| c.1357C>T | p.Arg453* | Nonsense | C-term | Rett syndrome-Preserved speech | Female | 2388 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2397 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2398 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2402 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2403 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Preserved speech | Female | 2404 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Congenital onset | Female | 2406 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2410 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2412 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2414 | |
| c.423C>G | p.Tyr141* | Nonsense | MBD | Rett syndrome-Preserved speech | Female | 2416 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Congenital onset | Female | 2418 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2420 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Preserved speech | Female | 2422 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Congenital onset | Female | 2426 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2427 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2431 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2433 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2434 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2435 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2439 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2441 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Congenital onset | Female | 2443 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2445 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2446 | |
| c.880C>T | p.Arg294* | Nonsense | TRD | Rett syndrome-Classical | Female | 2449 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2451 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2452 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2454 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2456 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Congenital onset | Female | 2458 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2459 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2462 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2463 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2465 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Classical | Female | 2469 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2471 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Classical | Female | 2473 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Preserved speech | Female | 2474 | |
| c.763C>T | p.Arg255* | Nonsense | TRD | Rett syndrome-Forme fruste | Female | 2477 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2479 | |
| c.808C>T | p.Arg270* | Nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2481 | |
| c.502C>T | p.Arg168* | Nonsense | Inter-domain region | Rett syndrome-Congenital onset | Female | 2485 | |
| c.1216C>T | p.Gln406* | Nonsense | C-term | Not Rett synd.-Sporadic mental retardation | Female | 2490 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 2541 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 2543 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-male variant | Male | 2550 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-Classical | Female | 2579 | |
| c.430A>T | p.Lys144* | nonsense | MBD | Rett syndrome-Classical | Female | 2580 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 2593 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 2594 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 2595 | |
| c.611C>G | p.Ser204* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 2596 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 2599 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 2600 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 2601 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 2602 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 2603 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2606 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2607 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 2608 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 2611 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 2612 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 2613 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 2614 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-preserved speech | Female | 2647 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 2769 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2819 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2821 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2822 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2824 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2826 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2827 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2828 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2859 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2860 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2864 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2879 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2880 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2881 | |
| c.799A>T | p.Lys267* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2889 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2895 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2897 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2898 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2899 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2900 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2901 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Rett synd.-autism only | Female | 2911 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2938 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2939 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2940 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2941 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2942 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2943 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2944 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-atypical | Female | 2964 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-atypical | Female | 2965 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-atypical | Female | 2966 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-atypical | Female | 2967 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-atypical | Female | 2969 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-atypical | Female | 2970 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2978 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2979 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 2980 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2981 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 2982 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 2983 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2984 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 2985 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3003 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3004 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3005 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3006 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3013 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3016 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3017 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3040 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3041 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3042 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3043 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3044 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3045 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-not certain | Female | 3050 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3051 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3052 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3053 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3054 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3055 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3056 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3057 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3058 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3059 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3060 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3061 | |
| c.28G>T | p.Glu10* | nonsense | N-term | Rett syndrome-not certain | Female | 3168 | |
| c.382C>T | p.Gln128* | nonsense | MBD | Rett syndrome-not certain | Female | 3169 | |
| c.413T>A | p.Leu138* | nonsense | MBD | Rett syndrome-not certain | Female | 3170 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3171 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3172 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3173 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3174 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3175 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3176 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3177 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3178 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3179 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3180 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3181 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3182 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3183 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3184 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3185 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3186 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3187 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3188 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3189 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3190 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3191 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3192 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3193 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3194 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3195 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3196 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3197 | |
| c.508C>T | p.Gln170* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3198 | |
| c.538A>T | p.Lys180* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3199 | |
| c.592A>T | p.Arg198* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3200 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3201 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3202 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3203 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3204 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3205 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3206 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3207 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3208 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3209 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3210 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3211 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3212 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3213 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3214 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3215 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3216 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3217 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3218 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3219 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3220 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3221 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3222 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3223 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3224 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3225 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3226 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3227 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3228 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3229 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3230 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3231 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3232 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3233 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3234 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3235 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3236 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3237 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3238 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3239 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3240 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3241 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3242 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3243 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3244 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3245 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3246 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3247 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3248 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3249 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3250 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3251 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3252 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3354 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3360 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3363 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3364 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3365 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3367 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3368 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3369 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3370 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3371 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3372 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3373 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-classical | Female | 3377 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-classical | Female | 3378 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3400 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3401 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3402 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3403 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3404 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-preserved speech | Female | 3405 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3406 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3407 | |
| c.508C>T | p.Gln170* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3408 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3463 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3464 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3465 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3466 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3467 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3468 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3469 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3470 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3471 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3472 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3473 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3474 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3475 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3476 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3477 | |
| c.508C>T | p.Gln170* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3478 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3479 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3480 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3481 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3482 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3483 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3484 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3485 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3486 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3487 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3488 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3489 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3490 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3491 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3492 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3493 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3494 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3495 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3496 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3497 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3498 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3499 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3500 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3501 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3502 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3503 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3504 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3505 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3506 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-not certain | Female | 3539 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3567 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3568 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3569 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3570 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3571 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3572 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3573 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3574 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3575 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3576 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3577 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3578 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3579 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3580 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3581 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3582 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 3583 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3584 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3585 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3586 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3587 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3588 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3589 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3590 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3591 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3592 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 3593 | |
| c.203C>G | p.Ser68* | nonsense | MBD | Rett syndrome-classical | Female | 3686 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-classical | Female | 3687 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3688 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3689 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3690 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3691 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3692 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3693 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3694 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3695 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3696 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3697 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3698 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3699 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3700 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3701 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3702 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3703 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3704 | |
| c.508C>T | p.Gln170* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3705 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3706 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3707 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3708 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3709 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3710 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3711 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3712 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3713 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3714 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3715 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3716 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3717 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3718 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3719 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3720 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3721 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3722 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3723 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3724 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3725 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3726 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3727 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3728 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3729 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3730 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3731 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3732 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3733 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3734 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3735 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3736 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3737 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 3738 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-atypical | Female | 3739 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-atypical | Female | 3740 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-atypical | Female | 3741 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-atypical | Female | 3742 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 3791 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 3795 | |
| c.784C>T | p.Gln262* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 3800 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3805 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 3813 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-atypical | Female | 3814 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 3815 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 4067 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4068 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4069 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4090 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4091 | |
| c.784C>T | p.Gln262* | nonsense | TRD-NLS | Not Known | Female | 4098 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4129 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4130 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4131 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4132 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4133 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4134 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4140 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4141 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4142 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4143 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4144 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4145 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4146 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4147 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4148 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4149 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4150 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4151 | |
| c.[1363G>T];[=] | p.[Glu455*];[=] | nonsense | C-term | Rett syndrome-male variant | Male | 4198 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4251 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4252 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4253 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4254 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4255 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4256 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4257 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4258 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4259 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Atypical | Female | 4260 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4261 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4262 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4263 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Atypical | Female | 4264 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Atypical | Female | 4265 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4266 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4267 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4268 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4269 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4270 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4271 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Atypical | Female | 4272 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 4293 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 4294 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Classical | Female | 4295 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Atypical | Female | 4296 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Atypical | Female | 4297 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Atypical | Female | 4298 | |
| c.502C>T | p.Arg168* | nonsense | MBD, inter-domain region, TRD, TRD-NLS, C-term | Rett syndrome-classical | Female | 4305 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4307 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4309 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4311 | |
| c.1189G>T | p.Glu397* | nonsense | C-term | Rett syndrome-not certain | Female | 4313 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4320 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4371 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Classical | Female | 4372 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-Atypical | Female | 4373 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4377 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4378 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Atypical | Female | 4379 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Atypical | Female | 4380 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-Classical | Female | 4381 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4382 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-Classical | Female | 4383 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Atypical | Female | 4384 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-Atypical | Female | 4385 | |
| c.274G>T | p.Gly92* | nonsense | MBD | Rett syndrome-classical | Female | 4396 | |
| c.1118C>G | p.Ser373* | nonsense | C-term | Not Known | Female | 4410 | |
| c.1357C>T | p.Arg453* | nonsense | C-term | Not Known | Female | 4422 | |
| c.146C>G | p.Ser49* | nonsense | N-term | Not Known | Female | 4423 | |
| c.194C>G | p.Ser65* | nonsense | N-term | Not Known | Female | 4424 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4461 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4462 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4463 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4464 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Not Known | Female | 4465 | |
| c.55C>T | p.Gln19* | nonsense | N-term | Not Known | Female | 4469 | |
| c.686C>A | p.Ser229* | nonsense | TRD | Not Known | Female | 4475 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4482 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Rett synd.-unaffected family member | Female | 4483 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4484 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4485 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4486 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4487 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4488 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4489 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Known | Female | 4490 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4491 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4492 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4493 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4494 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4495 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Not Known | Female | 4496 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4499 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4500 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4501 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4502 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4503 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4504 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 4505 | |
| c.[=/360T>G] | p.[=/Tyr120*] | nonsense | MBD | Rett syndrome-atypical | Male | 4671 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 4715 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 4716 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4717 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4718 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4719 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4720 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4721 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4722 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 4723 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4724 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4725 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4726 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4727 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4811 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4813 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 4814 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4842 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4843 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4845 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-atypical | Female | 4846 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 4847 | |
| c.1363G>T | p.Glu455* | nonsense | C-term | Rett syndrome-classical | Female | 4851 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4870 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4871 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4872 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4873 | |
| c.574A>T | p.Lys192* | nonsense | inter-domain region | Rett syndrome-classical | Female | 4874 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4875 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4876 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 4877 | |
| c.382C>T | p.Gln128* | nonsense | MBD | Rett syndrome-not certain | Female | 4911 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 4912 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4913 | |
| c.1216C>T | p.Gln406* | nonsense | C-term | Rett syndrome-not certain | Female | 4914 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-not certain | Female | 4921 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4925 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 4926 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 4927 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 4928 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 4929 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 4930 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 5049 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 5050 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 5055 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 5056 | |
| c.502C>T | p.Arg168* | nonsense | inter-domain region | Rett syndrome-not certain | Female | 5057 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-not certain | Female | 5058 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Not Rett synd.-intellectual disability | Female | 5126 | |
| c.766A>T | p.Lys256* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 5127 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 5128 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 5129 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 5130 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Rett synd.-Rett-like | Female | 5131 | |
| c.[502C>T;880C>T] | p.Arg168* | nonsense | inter-domain region, TRD | Rett syndrome-not certain | Female | 5242 | |
| c.1164_1207del44 | p.Proro389* | nonsense | C-term | Rett syndrome-preserved speech | Female | 6758 | |
| c.1164_1207del44 | p.Proro389* | nonsense | C-term | Rett syndrome-classical | Female | 6757 | |
| c.1164_1207del44 | p.Proro389* | nonsense | C-term | Rett syndrome-atypical | Female | 6756 | |
| c.1164_1207del44 | p.Proro389* | nonsense | C-term | Not Known | Female | 6755 | |
| c.808C>T | p.Arg270* | nonsense | NLS | Rett syndrome-classical | Female | 6746 | |
| c.808C>T | p.Arg270* | nonsense | NLS | Not Known | Female | 6745 | |
| c.763C>T | p.Arg255* | nonsense | NLS | Rett syndrome-classical | Female | 6743 | |
| c.763C>T | p.Arg255* | nonsense | NLS | Rett syndrome-classical | Female | 6742 | |
| c.763C>T | p.Arg255* | nonsense | NLS | Rett syndrome-classical | Female | 6741 | |
| c.763C>T | p.Arg255* | nonsense | NLS | Rett syndrome-classical | Female | 6740 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain region | Not Rett synd.-mental retardation and autism combined | Female | 6737 | |
| c.[502C>T; 880C>T] | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6621 | |
| c.667A>T | p.Lys223* | nonsense | TRD | Rett syndrome-classical | Female | 6612 | |
| c.146C>A | p.Ser49* | nonsense | N-term | Rett syndrome-classical | Female | 6602 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-classical | Female | 6592 | |
| c.423C>G | p.Tyr141* | nonsense | MBD | Rett syndrome-classical | Female | 6593 | |
| c.611C>A | p.Ser204* | nonsense | inter-domain | Rett syndrome-classical | Female | 6587 | |
| c.611C>G | p.Ser204* | nonsense | inter-domain | Rett syndrome-classical | Female | 6586 | |
| c.679C>T | p.Gln227* | nonsense | TRD | Rett syndrome-classical | Female | 6584 | |
| c.730C>T | p.Gln244* | nonsense | TRD | Rett syndrome-classical | Female | 6583 | |
| c.806delG | p.Gly269fs | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6578 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6501 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6500 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6499 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6498 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6497 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6496 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6495 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6494 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6493 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6492 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6491 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6490 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6489 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6488 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6487 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6486 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6485 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6484 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6483 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6482 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6481 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6480 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6479 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6478 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6477 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6476 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6475 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6474 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6473 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6472 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6471 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6470 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6469 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6468 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6467 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6466 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6465 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6464 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6463 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6462 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain | Rett syndrome-classical | Female | 6461 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6460 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6459 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6458 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6457 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6456 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6455 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6454 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6453 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-congenital | Female | 6452 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6451 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6450 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6449 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6448 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6447 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6446 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6445 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6444 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6443 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6441 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6442 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6440 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6439 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6438 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6437 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6436 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6435 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6434 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6432 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6433 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6431 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6429 | |
| c.808C>T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 6430 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6428 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Rett synd.-mental retardation | Female | 6427 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6426 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6425 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6424 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6423 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6422 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6421 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6420 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-forme fruste | Female | 6419 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6418 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6417 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6416 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6415 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6414 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6413 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6412 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6411 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Known | Female | 6410 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Rett syndrome-classical | Female | 6409 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6408 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6407 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6405 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6406 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6404 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6403 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6402 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6401 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6400 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6399 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6398 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6397 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6396 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6394 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6395 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6393 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6392 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6391 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6390 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6388 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6389 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6387 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6386 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 6385 | |
| c.1189G>A | p.Glu397Lys | nonsense | C-term | Polymorphism not causing disease | Not Known | Female | 6902 |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-not certain | Female | 6897 | |
| c.880C>T | p.Arg294* | nonsense | TRD | Not Rett synd.-autism only | Female | 7004 | |
| c.808C > T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 7014 | |
| c.808C > T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 7015 | |
| c.808C > T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 7016 | |
| c.808C > T | p.Arg270* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 7017 | |
| c.763C > T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 7018 | |
| c.763C > T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 7019 | |
| c.502C > T | p.Arg168* | nonsense | Inter-domain region | Rett syndrome-classical | Female | 7020 | |
| c.502C > T | p.Arg168* | nonsense | Inter-domain region | Rett syndrome-classical | Female | 7021 | |
| c.763C > T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 7023 | |
| c.1205_1206insT | p.Glu404* | nonsense | C-term | Rett syndrome-classical | Female | 7024 | |
| c.502C>T | p.Arg168* | nonsense | Inter-domain region | Rett syndrome-classical | Female | 7033 | |
| c.763C>T | p.Arg255* | nonsense | TRD | Rett syndrome-classical | Female | 7037 | |
| c.799A>T | p.Lys267* | nonsense | TRD-NLS | Rett syndrome-classical | Female | 7038 | |
| c.[880C>T(;)*9G>A] | "p.Arg294*, 3'UTR variation" | Nonsense, 3'UTR variation | TRD, 3'UTR | Not Known | Female | 2041 | |
| c.[502C>T; 1136_1142del7] | p.Arg168* | nonsense, frameshift insertion or deletion | MBD, C-term | Rett syndrome-not certain | Female | 3853 | |
| c.[203C>G;1094_1138del45] | p.Ser68* | nonsense, in-frame insertion or deletion | N-term, C-term | Rett syndrome-not certain | Female | 5243 | |
| c.[502C>T];[695G>C] | p.[Arg168*];[Gly232Ala] | Nonsense, missense | Inter-domain region, TRD | Rett syndrome-Not certain | Unknown | 129 | |
| c.[502C>T];[695G>C] | p.[Arg168*];[Gly232Ala] | Nonsense, missense | Inter-domain region, TRD | Rett syndrome-Not certain | Unknown | 132 | |
| c.[502C>T];[695G>C] | p.[Arg168*];[Gly232Ala] | Nonsense, missense | Inter-domain region, TRD | Rett syndrome-Not certain | Unknown | 134 | |
| c.[334A>T(;)871T>G] | p.[Lys112*(;)Ser291Ala] | nonsense, missense | MBD, TRD | Rett syndrome-Classical | Female | 4230 | |
| c.[763C>T(;)1133C>G] | p.[Arg255*(;)Ala378Gly] | nonsense, missense | TRD, C-term | Rett syndrome-Classical | Female | 4341 | |
| c.[502C>T;1180G>A];[832G>A] | p.[Arg168*];[Ala278Thr] | nonsense, missense | inter-domain region, TRD, C-term | Rett syndrome-not certain | Female | 5235 | |
| c.[880C>T];[1326C>T] | p.[Arg294*];[Thr442Thr] | Nonsense, silent | TRD, C-term | Rett syndrome-Not certain | Unknown | 128 | |
| c.[808C>T(;) 1233C>T] | p.[Arg270*(;) Ser411Ser] | nonsense, silent | TRD-NLS, C-term | Rett syndrome-Classical | Female | 454 | |
| c.[763C>T(;)1071C>T] | p.[Arg255*(;)Ser357Ser] | Nonsense, silent | TRD, C-term | Rett syndrome-Not certain | Female | 1830 | |
| c.[502C>T(;)897C>T] | p.[Arg168*(;)Thr299Thr] | Nonsense, silent | Inter-domain region, TRD | Rett syndrome-Classical | Female | 2246 | |
| c.[763C>T(;)1233C>T] | p.[Arg255*(;)Ser411Ser] | Nonsense, silent | TRD, C-term | Rett syndrome-Classical | Female | 2453 | |
| c.[502C>T(;)750C>A] | p.[Arg168*(;)Arg250Arg] | Nonsense, silent | Inter-domain region, TRD | Rett syndrome-Classical | Female | 2455 | |
| c.[502C>T(;)1326C>T] | p.[Arg168*(;)Thr442Thr] | nonsense, silent | inter-domain region, C-term | Rett syndrome-classical | Female | 2820 | |
| c.[808C>T(;) 1326C>T] | p.[Arg270*(;) Thr442Thr] | nonsense, silent | TRD-NLS, C-term | Rett syndrome-classical | Female | 2825 | |
| c.[880C>T(;)1233C>T] | p.[Arg294*(;)Ser411Ser] | nonsense, silent | TRD, C-term | Rett syndrome-Classical | Female | 4342 | |
| c.[426C>T(;) 502C>T] | p.[Phe142Phe(;) Arg168*] | nonsense, silent | inter-domain region | Rett syndrome-classical | Female | 4844 | |
| c.[1164_1207 del(;)1231_1233delAGC ] | p.[Pro389*(;)Ser411del] | nonsense,frameshift insertion or deletion | C-term | Not Rett synd.-x-linked mental retardation | Male | 6998 | |
| 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 |
| not certain | p.Leu386fs | Not known | C-term | Rett syndrome-Classical | Female | 325 | |
| not certain | p.Leu386fs | Not known | C-term | Rett syndrome-Classical | Female | 326 | |
| not certain | p.Leu386fs | Not known | C-term | Rett syndrome-Classical | Female | 327 | |
| not certain | p.Leu386fs | Not known | C-term | Rett syndrome-Classical | Female | 328 | |
| complex rearrangement | complex rearrangement | Not known | Not known | Unknown | Rett syndrome-Classical | Female | 2070 |
| uncertain | p.Ile314Ile | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 9 |
| c.474G>A | p.Thr158Thr | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 15 |
| c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 17 |
| c.834C>T | p.Ala278Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 19 |
| c.1065C>T | p.Ser355Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 24 |
| c.426C>T | p.Phe142Phe | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 45 |
| c.834C>T | p.Ala278Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 47 |
| c.168C>T | p.Pro56Pro | Silent | N-term | Silent polymorphism | Rett syndrome-Not certain | Unknown | 147 |
| c.1326C>T | p.Thr442Thr | Silent | C-term | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 150 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 206 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Female | 209 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Female | 210 |
| c.1071C>T | p.Ser357Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Female | 211 |
| c.984C>T | p.Leu328Leu | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 351 |
| 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.1335G>A | p.Thr445Thr | Silent | C-term | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 414 |
| c.1335G>A | p.Thr445Thr | Silent | C-term | Silent polymorphism | Rett syndrome-Atypical | Female | 415 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Atypical | Female | 431 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 432 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 436 |
| c.[819G>T(;)1161C>T] | p.[Gly273Gly(;)Pro387Pro] | Silent | TRD, C-term | Silent polymorphism | Rett syndrome-Atypical | Female | 441 |
| c.819G>T | p.Gly273Gly | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 442 |
| c.984C>T | p.Leu328Leu | Silent | C-term | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 474 |
| c.1197C>T | p.Pro399Pro | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1008 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1006 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1005 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1004 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1003 |
| c.375C>A | p.Ile125Ile | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1002 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Classical | Female | 952 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | Unknown | 850 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 849 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Female | 848 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Female | 847 |
| c.849C>G | p.Ala283Ala | Silent | TRD | Silent polymorphism | Not Rett synd.-X-linked mental retardation | Male | 1019 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-X-linked mental retardation | Male | 1020 |
| c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Not Rett synd.-X-linked mental retardation | Male | 1021 |
| c.375C>A | p.Ile125Ile | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 1123 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Female | 1124 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Female | 1125 |
| c.843C>T | p.Ala281Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1127 |
| c.984C>T | p.Leu328Leu | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1128 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1130 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1131 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1132 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1133 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1134 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1135 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1193 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1194 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 1540 |
| c.1326C>T | p.Thr442Thr | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 1210 |
| c.1176G>A | p.Glu392Glu | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 1218 |
| c.840C>T | p.Ala280Ala | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 1234 |
| c.750C>T | p.Arg250Arg | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 1238 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Female | 1241 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Unknown | 1373 |
| 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.903C>T | p.Leu301Leu | Silent | TRD | Silent polymorphism | Rett syndrome-Classical | Female | 1432 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-angelman syndrome | Female | 1557 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-autism only | Female | 1566 |
| c.1137C>T | p.Pro379Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-autism only | Female | 1572 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-autism only | Female | 1576 |
| c.1197C>T | p.Pro399Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-autism only | Male | 1577 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 1588 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1590 |
| c.834C>T | p.Ala278Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1593 |
| c.1071C>T | p.Ser357Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1627 |
| c.750C>T | p.Arg250Arg | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1633 |
| c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1635 |
| c.393C>G | p.Ala131Ala | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 1639 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Not certain | Male | 1640 |
| c.840C>T | p.Ala280Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1649 |
| c.210C>T | p.Ser70Ser | Silent | N-term | Silent polymorphism | Not Known | Female | 1729 |
| c.819G>T | p.Gly273Gly | Silent | TRD | Silent polymorphism | Not Known | Female | 1735 |
| c.210C>T | p.Ser70Ser | Silent | N-term | Silent polymorphism | Not Known | Male | 1737 |
| c.210C>T | p.Ser70Ser | Silent | N-term | Silent polymorphism | Not Known | Female | 1763 |
| c.210C>T | p.Ser70Ser | Silent | N-term | Silent polymorphism | Not Known | Male | 1771 |
| c.168C>T | p.Pro56Pro | Silent | N-term | Silent polymorphism | Not Known | Male | 1794 |
| c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Not Known | Male | 1808 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Known | Female | 1809 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Known | Female | 1810 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Known | Female | 1811 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Not certain | Male | 1819 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1823 |
| c.375C>A | p.Ile125Ile | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 1826 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1838 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1844 |
| c.777C>T | p.Ala259Ala | Silent | TRD-NLS | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 1846 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1867 |
| c.297C>G | p.Thr99Thr | Silent | MBD | Silent polymorphism | Rett syndrome-Not certain | Female | 1877 |
| c.426C>T | p.Phe142Phe | Silent | MBD | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Male | 1885 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Male | 1891 |
| c.777C>T | p.Ala259Ala | Silent | TRD-NLS | Silent polymorphism | Rett syndrome-Not certain | Female | 1894 |
| c.819G>T | p.Gly273Gly | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1899 |
| c.843C>T | p.Ala281Ala | Silent | TRD | Silent polymorphism | Rett syndrome-Not certain | Female | 1900 |
| c.1266C>T | p.Gly422Gly | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1911 |
| c.1446C>T | p.Thr482Thr | Silent | C-term | Silent polymorphism | Rett syndrome-Not certain | Female | 1912 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Known | Female | 2007 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Known | Male | 2030 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Known | Female | 2037 |
| c.843C>T | p.Ala281Ala | Silent | TRD | Silent polymorphism | Not Known | Female | 2043 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Not Known | Female | 2044 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Known | Female | 2059 |
| 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.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 2089 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Rett syndrome-Atypical | Female | 2122 |
| 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.948C>G | p.Val316Val | Silent | C-term | Silent polymorphism | Not Known | Female | 2131 |
| c.720C>T | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Known | Female | 2132 |
| c.720C>T | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 2133 |
| c.585C>T | p.Gly195Gly | Silent | Inter-domain region | Silent polymorphism | Not Known | Female | 2136 |
| c.168C>T | p.Pro56Pro | Silent | N-term | Silent polymorphism | Not Known | Male | 2140 |
| c.1404G>A | p.Arg468Arg | Silent | C-term | Silent polymorphism | Not Known | Male | 2142 |
| c.1215C>T | p.Pro405Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-not certain | Female | 2149 |
| c.1215C>T | p.Pro405Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 2150 |
| c.1215C>T | p.Pro405Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 2151 |
| 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.474G>A | p.Thr158Thr | Silent | MBD | Silent polymorphism | Not Known | Female | 2160 |
| c.474G>A | p.Thr158Thr | Silent | MBD | Silent polymorphism | Not Rett synd.-Unaffected family member | Male | 2161 |
| c.591G>A | p.Thr197Thr | Silent | Inter-domain region | Silent polymorphism | Not Rett synd.-autism only | Male | 2375 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-autism only | Female | 2376 |
| 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.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Phobia | Female | 2379 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Alcoholism | Male | 2380 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Alcoholism | Male | 2381 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-ADHD | Male | 2382 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-ADHD | Male | 2383 |
| c.720C>G | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-autism only | Female | 2395 |
| c.720C>G | p.Thr240Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Unaffected family member | Female | 2396 |
| c.582C>T | p.Ser194Ser | Silent | Inter-domain region | Silent polymorphism | Rett syndrome-Congenital onset | Female | 2401 |
| c.1197C>T | p.Pro399Pro | Silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 2417 |
| c.666C>G | p.Val222Val | Silent | TRD | Silent polymorphism | Rett syndrome-Preserved speech | Female | 2421 |
| c.393C>G | p.Ala131Ala | Silent | MBD | Silent polymorphism | Not Rett synd.-Prader-Willi syndrome | Male | 2496 |
| 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.666C>G | p.Val222Val | Silent | TRD | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Male | 2520 |
| c.897C>T | p.Thr299Thr | Silent | TRD | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Female | 2521 |
| c.1206C>T | p.Pro402Pro | Silent | C-term | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Female | 2524 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Male | 2525 |
| c.1233C>T | p.Ser411Ser | Silent | C-term | Silent polymorphism | Not Rett synd.-Sporadic mental retardation | Male | 2526 |
| c.1284C>T | p.Gly428Gly | silent | C-term | Silent polymorphism | Rett syndrome-classical | Female | 3816 |
| c.819G>T | p.Gly273Gly | silent | TRD | Silent polymorphism | Rett syndrome-Classical | Female | 2635 |
| c.1161C>T | p.Pro387Pro | silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 2636 |
| c.1335G>A | p.Thr445Thr | silent | c-term | Silent polymorphism | Rett syndrome-Classical | Female | 2637 |
| c.819G>T | p.Gly273Gly | silent | TRD | Silent polymorphism | Not Rett synd.-sporadic mental retardation | Unknown | 2653 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-sporadic mental retardation | Unknown | 2654 |
| c.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Not Rett synd.-sporadic mental retardation | Unknown | 2655 |
| c.1206C>T | p.Pro402Pro | silent | C-term | Silent polymorphism | Not Rett synd.-sporadic mental retardation | Unknown | 2657 |
| c.393C>G | p.Ala131Ala | silent | MBD | Silent polymorphism | Not Rett synd.-Autism | Unknown | 2664 |
| c.1197C>T | p.Pro399Pro | silent | C-term | Silent polymorphism | Not Rett synd.-Autism | Unknown | 2668 |
| c.1197C>T | p.Pro399Pro | silent | C-term | Silent polymorphism | Not Rett synd.-Autism | Unknown | 2669 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-Autism | Unknown | 2670 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-Autism | Unknown | 2672 |
| c.609G>A | p.Thr203Thr | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Male | 2751 |
| c.906C>G | p.Pro302Pro | silent | TRD | Silent polymorphism | Not Rett synd.-mental retardation | Male | 2753 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-non-specfic mental retardation | Female | 2772 |
| c.948C>G | p.Val316Val | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Female | 2773 |
| c.1206C>T | p.Pro402Pro | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Female | 2775 |
| c.1266C>T | p.Gly422Gly | silent | C-term | Silent polymorphism | Not Rett synd.-non-specfic mental retardation | Female | 2776 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-non-specfic mental retardation | Female | 2779 |
| c.1326C>T | p.Thr442Thr | silent | C-term | Silent polymorphism | Rett syndrome-classical | Female | 2830 |
| c.753C>T | p.Pro251Pro | silent | TRD | Silent polymorphism | Rett syndrome-classical | Female | 2994 |
| c.225G>A | p.Pro75Pro | silent | N-term | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3020 |
| c.[528C>G; 897C>T] | p.[Pro176Pro; Thr299Thr] | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3021 |
| c.573C>T | p.Pro191Pro | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3022 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3023 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3024 |
| c.834C>T | p.Ala278Ala | silent | TRD | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3026 |
| c.942C>T | p.Ile314Ile | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Male | 3027 |
| c.660C>T | p.Leu220Leu | silent | TRD | Silent polymorphism | Not Rett synd.-autism | Female | 3809 |
| c.984C>A | p.Leu328Leu | silent | C-term | Silent polymorphism | Not Known | Male | 3911 |
| c.834C>T | p.Ala278Ala | silent | TRD | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3920 |
| c.393C>G | p.Ala131Ala | silent | MBD | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3995 |
| c.834C>T | p.Ala278Ala | silent | TRD | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3996 |
| c.948C>G | p.Val316Val | silent | C-term | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3997 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3998 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-non-Rett syndrome control | Unknown | 3999 |
| c.1278C>T | p.Ser426Ser | silent | C-term | Silent polymorphism | Rett syndrome-atypical | Female | 4079 |
| c.279C>T | p.Pro93Pro | silent | MBD | Silent polymorphism | Rett syndrome-atypical | Female | 4080 |
| c.795C>G | p.Pro265Pro | silent | TRD-NLS | Silent polymorphism | Rett syndrome-atypical | Female | 4085 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-autism | Unknown | 4200 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Rett syndrome-not certain | Female | 4273 |
| c.666C>G | p.Val222Val | silent | TRD | Silent polymorphism | Rett syndrome-not certain | Female | 4274 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4289 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4290 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4291 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4292 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-Classical | Female | 4345 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-unaffected family member | Female | 4375 |
| c.777C>T | p.Ala259Ala | silent | TRD-NLS | Silent polymorphism | Not Rett synd.-normal control | Female | 4387 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Female | 4389 |
| c.603G>A | p.Ala201Ala | silent | inter-domain region | Silent polymorphism | Not Rett synd.-normal control | Female | 4391 |
| c.[1035A>G(;)1233C>T] | p.[Lys345Lys(;)Ser411Ser] | silent | C-term | Silent polymorphism | Rett syndrome-congenital | Female | 4595 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-autism spectrum disorder | Unknown | 4606 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-autism spectrum disorder | Unknown | 4607 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4608 |
| c.1206C>T | p.Pro402Pro | silent | C-term | Silent polymorphism | Not Rett synd.-autism spectrum disorder | Unknown | 4609 |
| c.996C>T | p.Ser332Ser | silent | C-term | Silent polymorphism | Not Rett synd.-autism spectrum disorder | Unknown | 4614 |
| c.942C>T | p.Ile314Ile | silent | C-term | Silent polymorphism | Not Rett synd.-schizophrenia | Unknown | 4617 |
| c.843C>T | p.Ala281Ala | silent | TRD | Silent polymorphism | Not Rett synd.-schizophrenia | Unknown | 4619 |
| c.426C>T | p.Phe142Phe | silent | MBD | Silent polymorphism | Not Rett synd.-autism spectrum disorder | Unknown | 4622 |
| 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.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4626 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4627 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4628 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4629 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4630 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4631 |
| c.627G>A | p.Val209Val | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4632 |
| 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.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 4635 |
| c.375C>A | p.Ile125Ile | silent | MBD | Silent polymorphism | Rett syndrome-not certain | Female | 4749 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Rett syndrome-not certain | Female | 4750 |
| 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.999G>T | p.Gly333Gly | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4755 |
| c.1161C>T | p.Pro387Pro | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4756 |
| c.1266C>T | p.Gly422Gly | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 4758 |
| c.996C>T | p.Ser332Ser | silent | C-term | Silent polymorphism | Rett syndrome-atypical | Female | 4804 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-not certain | Female | 4815 |
| c.1197C>T | p.Pro399Pro | silent | C-term | Silent polymorphism | Not Rett synd.-not certain | Female | 4820 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Rett syndrome-atypical | Female | 4862 |
| c.984C>T | p.Leu328Leu | silent | C-term | Silent polymorphism | Rett syndrome-atypical | Female | 4863 |
| c.1326C>T | p.Thr442Thr | silent | C-term | Silent polymorphism | Rett syndrome-atypical | Female | 4864 |
| c.1437G>A | p.Thr479Thr | silent | C-term | Silent polymorphism | Rett syndrome-atypical | Female | 5061 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Rett syndrome-not certain | Female | 5070 |
| c.1053C>G | p.Pro351Pro | silent | C-term | Silent polymorphism | Not Rett synd.-autism | Male | 5080 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-autism | Male | 5081 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Rett syndrome-not certain | Female | 5186 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5187 |
| c.582C>T | p.Ser194Ser | silent | inter-domain region | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5188 |
| c.750C>T | p.Arg250Arg | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5191 |
| 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.843C>T | p.Ala281Ala | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5196 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Rett syndrome-not certain | Female | 5197 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5198 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5199 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5200 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5201 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5202 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5203 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5204 |
| c.897C>T | p.Thr299Thr | silent | TRD | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5205 |
| 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.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.1197C>T | p.Pro399Pro | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5215 |
| c.1206C>T | p.Pro402Pro | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 5216 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Rett syndrome-not certain | Female | 5217 |
| c.1233C>T | p.Ser411Ser | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5218 |
| c.1266C>T | p.Gly422Gly | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5221 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5222 |
| c.1335G>A | p.Thr445Thr | silent | C-term | Silent polymorphism | Not Rett synd.-normal control | Unknown | 5223 |
| c.1197C>T | p.(=) | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6868 |
| c.1035A>G | p.(=) | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6863 |
| c.996C>T | p.(=) | silent | C-term | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6862 |
| c.897C>T | p.(=) | silent | TRD | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6861 |
| c.897C>T | p.(=) | silent | TRD | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6860 |
| c.834C>T | p.(=) | silent | TRD | Silent polymorphism | Rett syndrome-atypical | Female | 6859 |
| c.819G>T | p.(=) | silent | TRD | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6858 |
| c.582C>T | p.(=) | silent | inter-domain region | Silent polymorphism | Not Rett synd.-autism | Female | 6853 |
| c.582C>T | p.(=) | silent | inter-domain region | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6854 |
| c.375C>A | silent | MBD | Silent polymorphism | Not Rett synd.-mental retardation | Female | 6846 | |
| c.[1104C>T; 1107_1327del221] | p.[His368His;His370fs] | Silent, frameshift insertion or deletion | C-term | Rett syndrome-Atypical | Female | 423 | |
| c.[897C>T(;)1155_1200del46] | p.[Thr299Thr(;)Leu386fs] | Silent, frameshift insertion or deletion | TRD, C-term | Rett syndrome-Atypical | Female | 435 | |
| c.[777C>T(;)1157_1197del41] | p.[Ala259Ala(;)Leu386fs] | Silent, frameshift insertion or deletion | TRD-NLS, C-term | Rett syndrome-Not certain | Female | 1845 | |
| c.[1137C>T;1157_1200del44] | p.[Pro379Pro;Leu386fs] | silent, frameshift insertion or deletion | C-term | Rett syndrome-not certain | Female | 5247 | |
| c.[834C>T(;) 856_859delAAAG(;) 1180G>A] | p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] | silent, frameshift insertion or deletion, missense | TRD, C-term | Rett syndrome-classical | Female | 4397 | |
| c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Silent, in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-autism only | Female | 1567 |
| c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Silent, in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Female | 1568 |
| c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Silent, in-frame insertion or deletion | C-term | Polymorphism not causing disease | Not Rett synd.-Unaffected family member | Male | 1569 |
| c.[609G>A(;)905C>T] | p.[Thr203Thr(;)Pro302Leu] | Silent, missense | Inter-domain region, TRD | Unknown | Rett syndrome-Not certain | Female | 1875 |
| c.[426C>T(;)916C>T] | p.[Phe142Phe(;)Arg306Cys] | silent, missense | MBD, TRD | Rett syndrome-classical | Female | 2814 | |
| c.[834C>T(;) 965C>T] | p.[Ala278Ala(;) Pro322Leu] | silent, missense | TRD, C-term | Unknown | Rett syndrome-classical | Female | 2993 |
| c.[426C>T(;)608C>T] | p.[Phe142Phe(;)Thr203Met] | silent, missense | MBD, inter-domain region | Polymorphism not causing disease | Rett syndrome-Atypical | Female | 4338 |
| c.[1233C>T(;)1460G>T] | p.[Ser411Ser(;)*487Leuext*27] | silent, non-stop | C-term | Unknown | Rett syndrome-Classical | Female | 4288 |
| c.[750C>T(;)1459T>C] | p.[Arg250Arg(;)*487Argext27] | Silent, nonstop | TRD, C-term | Unknown | Rett syndrome-Classical | Female | 1237 |
| c.-113C>T | p.(=) | splicing | N-term | Rett syndrome-classical | Female | 5233 |
Displaying 4806 entries
To limit/filter the entries shown in this table (or to change the fields displayed), please go to the proband search page.
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
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Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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