MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID View record
c.*156G>T g.153295662C>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6875 View details
c.*92C>T g.153295726G>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6874 View details
c.*9G>A g.153295809C>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6873 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 381 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 445 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 449 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1386 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1978 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2527 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2528 View details
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640 View details
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641 View details
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2674 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2675 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677 View details
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2678 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679 View details
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2680 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2682 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2683 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2684 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2685 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2686 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2687 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2688 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2689 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2690 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2691 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2692 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2693 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2694 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2695 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2696 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2698 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2699 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2700 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2701 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2702 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2703 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2704 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2705 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706 View details
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2707 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2710 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2711 View details
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2712 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2713 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2714 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2715 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2716 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2717 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2718 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2719 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2720 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2721 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2722 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2723 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2724 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2725 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2726 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2727 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2728 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2729 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2730 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2731 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2732 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2733 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2734 View details
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2735 View details
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2736 View details
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2737 View details
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2738 View details
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2739 View details
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2740 View details
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2741 View details
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2742 View details
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2743 View details
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2744 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-atypical Female 3858 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3859 View details
c.*1134G>A g.153294684C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-congenital Female 3860 View details
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3861 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3862 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3863 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3978 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3979 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4000 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4001 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4002 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4003 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4004 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4005 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4006 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4007 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4008 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4009 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4010 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4011 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4012 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4013 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4014 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4015 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4016 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4017 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4018 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4019 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4020 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4021 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4022 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4023 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4024 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4025 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4026 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4027 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4028 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4029 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4030 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4031 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4032 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4043 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4048 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4049 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4201 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4202 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4203 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4204 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4205 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4206 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4207 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4208 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4209 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4210 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4211 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4212 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4213 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4214 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4215 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4216 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4217 View details
c.*92C>G g.153295726G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-classical Female 4300 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4408 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4409 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-not certain Female 5226 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 5227 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5228 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5229 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5230 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5231 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5232 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 6666 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-forme fruste Female 6665 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 6611 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 6347 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 951 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Female 3983 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3984 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3985 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3986 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6844 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6843 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6842 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6841 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Male 6840 View details
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd. Female 6839 View details
c.1235_1260del26 g.153296019_153296044del26 p.Val412fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 4 View details
uncertain p.Ile314Ile Silent C-term Silent polymorphism Rett syndrome-Not certain Female 9 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 14 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 17 View details
c.1153_1190del38 g.153296089_153296126del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 18 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 22 View details
c.1104_1106del3 g.153296173_153296175del3 p.His372del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 23 View details
c.1065C>T g.153296214G>A p.Ser355Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 24 View details
c.1012_1202del191 g.153296077_153296267del191 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 36 View details
c.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 37 View details
c.1154_1185del32 g.153296094_153296125del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Male variant Male 38 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 39 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 40 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 41 View details
c.1160_1185del26 g.153296094_153296119del26 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 42 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 43 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Rett syndrome-Not certain Female 44 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Not certain Female 79 View details
c.[965C>T(;)999G>T] g.[153296314G>A;153296280C>A] p.[Pro322Leu(;)Gly333Gly] Missense, silent C-term Unknown Rett syndrome-Not certain Female 122 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 125 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 126 View details
c.1364_1365insC g.153295914_153295915insG p.Glu455fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Congenital onset Female 127 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Not Rett synd. Female 150 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 152 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 153 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 205 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Not Rett synd. Female 211 View details
c.1150_1192del43 g.153296087_153296129del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 257 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 258 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 259 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 260 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 261 View details
c.1156_1200del45 g.153296079_153296123del45 p.Leu386_Thr400del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 286 View details
c.1039_1195del157insGT g.153296084_153296240delinsAC p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 287 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 325 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 326 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 327 View details
not certain p.Leu386fs Not known C-term Mutation associated with disease Rett syndrome-Classical Female 328 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 347 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 348 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 349 View details
c.1165_1233del69ins21 p.Pro389_Pro411del23ins7 In-frame combined insertion and deletion C-term Unknown Rett syndrome-Classical Female 350 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Classical Female 351 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 367 View details
c.[1157_1197del41; 1232_1240del9] g.[153296082_153296122del41;153296039_153296047del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 384 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 391 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 394 View details
c.1430G>C g.153295849C>G p.Ser477Thr Missense C-term Polymorphism not causing disease Not Rett synd. Female 395 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Classical Female 398 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 399 View details
c.1450_*12del24 g.153295806_153295829del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 406 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Not Rett synd. Female 414 View details
c.1335G>A g.153295944C>T p.Thr445Thr Silent C-term Silent polymorphism Rett syndrome-Atypical Female 415 View details
c.[1104C>T; 1107_1327del221] g.[153296175G>A;153295952_153296172del221] p.[His368His;His370fs] Silent, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 423 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 429 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 437 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 448 View details
c.1403_1408del6 g.153295871_153295876del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 466 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Not Rett synd. Female 474 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 482 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Not certain Unknown 1008 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 949 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 946 View details
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942 View details
c.1038C>G g.153296241G>C p.Ser346Arg Missense C-term Mutation associated with disease Rett syndrome-Classical Female 939 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 936 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 933 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 929 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 918 View details
c.1163_1216del54 g.153296063_153296116del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 919 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 917 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 915 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Forme fruste Unknown 916 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 914 View details
c.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 855 View details
c.1123_1191del69 g.153296088_153296156del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 854 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 853 View details
c.[1103_1172del; 1185_1191del] g.[153296107_153296176del;153296088_153296094del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 852 View details
c.1159_1201del43 g.153296078_153296120del43 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 851 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Classical Unknown 850 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 838 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1542 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 837 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 836 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Female 835 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 834 View details
c.1161_1400del240 g.153295879_153296118del240 p.Pro388_Pro467del In-frame insertion or deletion C-term Unknown Not Rett synd. Male 833 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1016 View details
c.1358G>A g.153295921C>T p.Arg453Gln Missense C-term Unknown Not Rett synd. Male 1017 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 1021 View details
c.1160C>T g.153296119G>A p.Pro387Leu Missense C-term Unknown Not Rett synd. Male 1022 View details
c.1079C>A g.153296200G>T p.Ser360* Nonsense C-term Mutation associated with disease Rett syndrome-Not certain Female 1107 View details
c.[965_970del6; 1029dupG; 1138_1208del71] g.[153296309_153296314del6;153296250dupC;153296071_153296141del71] p.[Pro322_Leu323del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1116 View details
c.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1117 View details
c.[1161_1166del6; 1180_1205del26] g.[153296113_153296118del6;153296074_153296099del26] p.[Pro390_Pro391del;Glu394Profs*2] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1118 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1119 View details
c.[1163_1173del11; 1176_1193del18] g.[153296106_153296116del11;153296086_153296103del18] p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1120 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1121 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1122 View details
c.984C>T g.153296295G>A p.Leu328Leu Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1128 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1129 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1130 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1131 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1132 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1133 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1134 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1135 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1143 View details
c.1164_1172del9 g.153296107_153296115del9 p.Pro389_Pro391del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Female 1144 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1150 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1151 View details
c.1159_1210del52 g.153296069_153296120del52 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1153 View details
c.1158_1186del29 g.153296093_153296121del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1179 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1180 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Preserved speech Female 1181 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1529 View details
c.1061_1156del96 g.153296123_153296218del96 p.Arg352_Pro385del In-frame insertion or deletion C-term Unknown Rett syndrome-Classical Female 1196 View details
c.989_994delinsGCATCTTCTCCTCTTT g.153296285_153296290delinsAAAGAGGAGAAGATGC p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Classical Unknown 1203 View details
c.[=/167_168delCC] p.[=/Pro56fs] Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Unknown 1204 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1205 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1206 View details
c.1326C>T g.153295953G>A p.Thr442Thr Silent C-term Silent polymorphism Rett syndrome-Classical Female 1210 View details
c.1176G>A g.153296103C>T p.Glu392Glu Silent C-term Silent polymorphism Rett syndrome-Classical Female 1218 View details
c.1099_1118del20 g.153296161_153296180del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1255 View details
c.1121_1191del71 g.153296088_153296158del71 p.Glu374fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1256 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1257 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1258 View details
c.1167_1200del34 g.153296079_153296112del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1259 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del In-frame insertion or deletion C-term Unknown Rett syndrome-Not certain Unknown 1361 View details
c.1163_*39del338 g.153295779_153296116del338 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1362 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1363 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1364 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1365 View details
c.1030_1195del166insGT g.153296084_153296249delinsAC p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1366 View details
c.1097_*13del378 g.153295805_153296182del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1367 View details
c.1096_1201del106 g.153296078_153296183del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1368 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1379 View details
c.1043_1173del131insTG g.153296106_153296236delinsCA p.Glu348_Pro391delinsVal In-frame combined insertion and deletion C-term Unknown Rett syndrome-Not certain Female 1381 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Rett syndrome-Male variant Male 1388 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1389 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1390 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1391 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Female 1392 View details
c.1075T>C g.153296204A>G p.Ser359Pro Missense C-term Polymorphism not causing disease Not Rett synd. Male 1393 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1394 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Classical Female 1403 View details
c.1160_1188del29 g.153296091_153296119del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1427 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1428 View details
c.1200dupC g.153296079dupG p.Ser401fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1429 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1455 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1456 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1457 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1477 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1478 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1499 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1500 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1501 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Unknown 1502 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1503 View details
c.1190dupA g.153296089dupT p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Unknown 1524 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Unknown 1527 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1530 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1531 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Rett syndrome-Not certain Male 1532 View details
c.1030C>T g.153296249G>A p.Arg344Trp Missense C-term Unknown Not Rett synd. Female 1533 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1536 View details
c.1196C>T g.153296083G>A p.Pro399Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1537 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1538 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1539 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Male 1543 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 1544 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 1545 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 1546 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1550 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1551 View details
c.1282G>A g.153295997C>T p.Gly428Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 1552 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 1557 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1567 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Female 1568 View details
c.[984C>T; 1161_1163del] g.[153296295G>A;153296116_153296118del] p.[Leu328Leu; Pro391del] Silent, in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 1569 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1570 View details
c.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Not Rett synd. Female 1571 View details
c.1137C>T g.153296142G>A p.Pro379Pro Silent C-term Silent polymorphism Not Rett synd. Female 1572 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1573 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Not Rett synd. Male 1577 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1578 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1579 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 1580 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1581 View details
c.1205C>T g.153296074G>A p.Pro402Leu Missense C-term Polymorphism not causing disease Not Rett synd. Female 1582 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 1589 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1594 View details
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] g.[153296142_153296154del13;153296016_153296141inv;153296078_153296121del;153296015_153296016insTCC] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1603 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1606 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1611 View details
c.1071C>T g.153296208G>A p.Ser357Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1627 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1635 View details
c.1441G>A g.153295838C>T p.Val481Met Missense C-term Unknown Rett syndrome-Not certain Female 1637 View details
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1655 View details
c.1271_1416del146 g.153295863_153296008del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1662 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1670 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1693 View details
c.1105delC g.153296174delG p.His369fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1695 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1698 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-classical Female 1707 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Not Known Female 1717 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1721 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1724 View details
c.1129_1193del65 g.153296086_153296150del65 p.Lys377fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1736 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1741 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1742 View details
c.1041_*29del450 g.153295789_153296238del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Not Known Female 1745 View details
c.1157_1192del36 g.153296087_153296122del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Not Known Female 1751 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1754 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 1757 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1768 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1776 View details
c.1115_1201del87 g.153296078_153296164del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Not Known Female 1777 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1780 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Male 1808 View details
c.1157_1191del35 g.153296088_153296122del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1814 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 1819 View details
c.1265_1289del25insAGCGGCCG g.153295990_153296014delinsCGGCCGCT p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1824 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1834 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1835 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1838 View details
c.1160_1200del41 g.153296079_153296119del41 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1842 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1848 View details
c.1161_1205del45insA g.153296074_153296118delinsT p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1856 View details
c.932C>T g.153296347G>A p.Thr311Met Missense C-term Unknown Rett syndrome-Not certain Female 1858 View details
c.1123_1202del80 g.153296077_153296156del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1863 View details
c.1012_1193del182 g.153296086_153296267del182 p.Thr338fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Female 1907 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 1908 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1909 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1910 View details
c.1266C>T g.153296013G>A p.Gly422Gly Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1911 View details
c.1446C>T g.153295833G>A p.Thr482Thr Silent C-term Silent polymorphism Rett syndrome-Not certain Female 1912 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 1940 View details
c.953A>C g.153296326T>G p.Glu318Ala Missense C-term Unknown Rett syndrome-atypical Female 1945 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Male 1974 View details
c.1135_1142delCCCGTGCC g.153296137_153296144delGGCACGGG p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2000 View details
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34] g.[153296285_153296287delTCT;153296250delC;153296218C>A;153296079_153296112del34] p.[Lys331del; Arg344fs] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2002 View details
c.1061G>T g.153296218C>A p.Arg354Leu Missense C-term Polymorphism not causing disease Not Rett synd. Male 2003 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2008 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2009 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2014 View details
c.1324A>G g.153295955T>C p.Thr442Ala Missense C-term Unknown Not Known Female 2016 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2021 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2026 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Known Male 2030 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2039 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Known Female 2049 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2050 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Known Female 2061 View details
c.1239C>T g.153296040G>A p.Cys413Cys Silent C-term Silent polymorphism Not Rett synd. Male 2062 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 2068 View details
c.1097_1203del107 g.153296076_153296182del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2098 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2099 View details
c.1087A>T g.153296192T>A p.Lys363* Nonsense C-term Mutation associated with disease Rett syndrome-Classical Female 2106 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2107 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2108 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2109 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2110 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2111 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2112 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2113 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2114 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2115 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2116 View details
c.1223_1265del43 g.153296014_153296056del43 p.Leu408fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2117 View details
c.1229G>A g.153296050C>T p.Ser410Asn Missense C-term Unknown Rett syndrome-Classical Female 2125 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Known Female 2126 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Female 2130 View details
c.948C>G g.153296331G>C p.Val316Val Silent C-term Silent polymorphism Not Known Female 2131 View details
c.1404G>A g.153295875C>T p.Arg468Arg Silent C-term Silent polymorphism Not Known Male 2142 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Known Female 2143 View details
c.1372C>T g.153295907G>A p.Arg458Cys Missense C-term Polymorphism not causing disease Not Rett synd. Male 2144 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Known Male 2147 View details
c.1234G>A g.153296045C>T p.Val412Ile Missense C-term Polymorphism not causing disease Not Rett synd. Female 2148 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2149 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Female 2150 View details
c.1215C>T g.153296064G>A p.Pro405Pro Silent C-term Silent polymorphism Not Rett synd. Male 2151 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Known Male 2152 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Male 2153 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Female 2154 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2155 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Known Male 2156 View details
c.1081C>G g.153296198G>C p.Pro361Ala Missense C-term Unknown Not Rett synd. Female 2157 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Known Female 2158 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2159 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166 View details
c.964C>G g.153296315G>C p.Pro322Ala Missense C-term Unknown Rett syndrome-Not certain Female 2177 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2178 View details
c.1052_1200del149 g.153296079_153296227del149 p.Pro351fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2179 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2180 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2181 View details
c.1152_1155del4 g.153296124_153296127del4 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2182 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2183 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2184 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2185 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2186 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2187 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2188 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2189 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2190 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-Not certain Female 2191 View details
c.1061G>A g.153296218C>T p.Arg354His Missense C-term Unknown Not Rett synd. Female 2207 View details
c.994_1346del353 g.153295933_153296285del353 p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2335 View details
c.994_998delAGCGG g.153296281_153296285delCCGCT p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Atypical Female 2336 View details
Not known p.Ser373* Nonsense C-term Mutation associated with disease Rett syndrome-Atypical Female 2337 View details
c.1127C>G g.153296152G>C p.Pro376Arg Missense C-term Unknown Not Rett synd. Female 2369 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Female 2377 View details
c.1035A>G g.153296244T>C p.Lys345Lys Silent C-term Silent polymorphism Not Rett synd. Male 2378 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Female 2379 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2380 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2381 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2382 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2383 View details
c.1357C>T g.153295922G>A p.Arg453* Nonsense C-term Mutation associated with disease Rett syndrome-Preserved speech Female 2388 View details
c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Missense C-term Polymorphism not causing disease Not Rett synd. Female 2390 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Male 2391 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2392 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2393 View details
c.1202G>A g.153296077C>T p.Ser401Asn Missense C-term Polymorphism not causing disease Not Rett synd. Female 2394 View details
c.1197C>T g.153296082G>A p.Pro399Pro Silent C-term Silent polymorphism Rett syndrome-Classical Female 2417 View details
c.965C>T g.153296314G>A p.Pro322Leu Missense C-term Unknown Rett syndrome-Classical Female 2424 View details
c.1163C>T g.153296116G>A p.Pro388Leu Missense C-term Unknown Rett syndrome-Forme fruste Female 2476 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 2487 View details
c.1216C>T g.153296063G>A p.Gln406* Nonsense C-term Mutation associated with disease Not Rett synd. Female 2490 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2493 View details
c.1126C>T g.153296153G>A p.Pro376Ser Missense C-term Polymorphism not causing disease Not Rett synd. Female 2495 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2522 View details
c.1189G>A g.153296090C>T p.Glu397Lys Missense C-term Polymorphism not causing disease Not Rett synd. Female 2523 View details
c.1206C>T g.153296073G>A p.Pro402Pro Silent C-term Silent polymorphism Not Rett synd. Female 2524 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2525 View details
c.1233C>T g.153296046G>A p.Ser411Ser Silent C-term Silent polymorphism Not Rett synd. Male 2526 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Male 2529 View details
c.964C>T g.153296315G>A p.Pro322Ser Missense C-term Unknown Not Rett synd. Female 2530 View details
c.1023_*14472del14911 g.153281346_153296256del14911 p.Ser341fs In-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 2533 View details
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2544 View details
c.[1148_1177del30];[1148_1177del30] p.[Leu383_Glu392del];[Leu383_Glu392del] inframe insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2545 View details
c.1284C>T g.153295995G>A p.Gly428Gly silent C-term Silent polymorphism Rett syndrome-classical Female 3816 View details
c.[1063_1188del126; 1189_1231inv; 1232_1236del5] g.[153296091_153296216del126;153296048_153296090inv;153296043_153296047del5] p.Ser355fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2621 View details
c.1069_1071delAGC g.153296208_153296210delGCT p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2622 View details
c.1116_1201del86 g.153296078_153296163del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2623 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2624 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2625 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense c-term Unknown Rett syndrome-Classical Female 2626 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2627 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2628 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2629 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-Classical Female 2636 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent c-term Silent polymorphism Rett syndrome-Classical Female 2637 View details
c.1101_1396+?del (deletion of exon 4 near stop codon) p.His367fs frameshift insertion or deletion c-term Mutation associated with disease Rett syndrome-Classical Female 2645 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 2655 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2656 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2657 View details
c.1430G>C g.153295849C>G p.Ser477Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 2658 View details
c.1162_1163delinsTA g.153296116_153296117delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 2659 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 2667 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2668 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 2669 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 2670 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 2672 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 2755 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 2763 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 2770 View details
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Female 2773 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 2774 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Female 2775 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Female 2776 View details
c.1315G>A g.153295964C>T p.Ala439Thr missense C-term Unknown Not Rett synd. Female 2777 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 2778 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Female 2779 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 2796 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Rett syndrome-classical Female 2817 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 2818 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2829 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-classical Female 2830 View details
c.1162C>T g.153296117G>A p.Pro388Ser missense C-term Unknown Rett syndrome-congenital onset Female 2857 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-classical Female 2858 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2862 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2863 View details
c.1164_1208del45 g.153296071_153296115del45 p.Pro389_Pro403del in-frame insertion or deletion C-term Unknown Rett syndrome-congenital onset Female 2883 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2884 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 2885 View details
c.1151_1191del41 g.153296088_153296128del41 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 2886 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Rett syndrome-atypical Female 2891 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 2910 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 2948 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2949 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2950 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2951 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 2952 View details
c.1194_1195insT g.153296084_153296085insA p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 2953 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2971 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2972 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 2973 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3009 View details
c.[1158_1167del10; 1173_1188del16] g.[153296112_153296121del10;153296091_153296106del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3010 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3011 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Rett syndrome-classical Female 3012 View details
c.1415_1416delAG g.153295863_153295864delCT p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Not Rett synd. Male 3019 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Male 3027 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3028 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 3033 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 3034 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3046 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3047 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3062 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3063 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3064 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3065 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3066 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3077 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3163 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-not certain Female 3164 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3165 View details
c.982C>G g.153296297G>C p.Leu328Val missense C-term Unknown Rett syndrome-not certain Female 3166 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167 View details
c.1009_1027del19 g.153296252_153296270del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3284 View details
c.1046_1206del161 g.153296073_153296233del161 p.Ser349fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3285 View details
c.1078_*2524del2908 g.153293294_153296201del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3286 View details
c.1105_1225del121 g.153296054_153296174del121 p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3287 View details
c.[1105_1116del12; 1152_1195del44] g.[153296163_153296174del12;153296084_153296127del44] p.[His369_His372del; Pro385fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3288 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3289 View details
c.1127_1137del11 g.153296142_153296152del11 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3290 View details
c.1129_*568delinsCCGTGG g.153295250_153296150delinsCCACGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3291 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3292 View details
c.1155_1200del46 g.153296079_153296124del46 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3293 View details
c.1155_1183del29 g.153296096_153296124del29 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3294 View details
c.[1159_1174del16; 1205_1432del228] g.[153296105_153296120del16;153295847_153296074del228] p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3295 View details
c.1156_1172del17 g.153296107_153296123del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3296 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3297 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3298 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3299 View details
c.1156_1197del42 g.153296082_153296123del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3300 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3301 View details
c.1156_1157dupCT g.153296122_153296123dupAG p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3302 View details
c.1158_1167del10 g.153296112_153296121del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3303 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3304 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3305 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3306 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3307 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3308 View details
c.1157_*944del1249 g.153294874_153296122del1249 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3309 View details
c.1158_1200del43 g.153296079_153296121del43 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3310 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3311 View details
c.1159_1458del300 g.153295821_153296120del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3312 View details
c.1159_1160ins300 p.Pro387_Pro388ins100 in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3313 View details
c.1162_1191del30 g.153296088_153296117del30 p.Pro388_Glu397del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3314 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3315 View details
c.1163_1179del17 g.153296100_153296116del17 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3316 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3317 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3318 View details
c.1164delA g.153296115delT p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3319 View details
c.1165_1190del26 g.153296089_153296114del26 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3320 View details
c.[1197_1237inv; 1238_1266del] g.[153296042_153296082inv;153296013_153296041del] p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3321 View details
c.1202dupG g.153296077dupC p.Ser401fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3322 View details
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323 View details
c.1454_1457del4 g.153295822_153295825del4 p.Val485fs frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3324 View details
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] g.[153296242_153296275del;153296225_153296228del;153296207_153296220del;153293220_153296118del] p.Gly335fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3341 View details
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] g.[153296146_153296150delinsACTC;153296079_153296124del46] p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3356 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3357 View details
c.1145_1194del50 g.153296085_153296134del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3358 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3359 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 3379 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3410 View details
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] g.[153296223_153296236del14;153296205_153296218del14;153296173_153296175del3;153296116_153296141del26;153296094_153296101del8] p.Glu348fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3413 View details
c.[1051_1065del15; 1088_1115del28; 1138_1207del70] g.[153296214_153296228del15;153296164_153296191del28;153296072_153296141del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3414 View details
c.1164_1206del43 g.153296073_153296115del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3415 View details
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3416 View details
c.1158_1198del41 g.153296081_153296121del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3417 View details
c.1057_1219del163 g.153296060_153296222del163 p.Gly353fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3507 View details
c.1154_1197del44 g.153296082_153296125del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3508 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3509 View details
c.1157_1187del31 g.153296092_153296122del31 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3510 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3511 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3512 View details
c.1160_1180del21 g.153296099_153296119del21 p.Pro387_Glu394delinsGln frameshift insertion or deletion C-term Unknown Rett syndrome-not certain Female 3513 View details
c.1075T>C g.153296204A>G p.Ser359Pro missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3517 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3520 View details
c.1048_1095del48 g.153296184_153296231del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3521 View details
c.1196_1266del71 g.153296013_153296083del71 p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3522 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-not certain Female 3564 View details
c.1015T>C g.153296264A>G p.Cys339Arg missense C-term Unknown Rett syndrome-not certain Female 3565 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566 View details
c.1151_1183del33 g.153296096_153296128del33 p.Pro384_Ser395delinsArg in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 3607 View details
c.1127_1179del53 g.153296100_153296152del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3608 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3609 View details
c.1158_1186del29insCCA g.153296093_153296121delinsTGG p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3610 View details
c.1169-?_*?del p.Pro390fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3619 View details
c.1048_1199del152 g.153296080_153296231del152 p.Ser350fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3621 View details
c.1450_1453delAGAG g.153295826_153295829delCTCT p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3746 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3747 View details
c.1115_1326del212 g.153295953_153296164del212 p.His372fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3748 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3751 View details
c.1320dupT g.153295959dupA p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3758 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3759 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-NK Female 3760 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3761 View details
c.1017-?_1397+?del g.153295882_153296262del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 3780 View details
c.1169-?_1170+?del g.153296109_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3782 View details
c.1169-?_1397+?del g.153295882_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3783 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3784 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3785 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3801 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3802 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 3807 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 3810 View details
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 5301 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Male 3851 View details
c.1151_1188del38 g.153296091_153296128del38 p.Pro384fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3870 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3871 View details
c.[1155_1172del18; 1373G>A] g.[153296107_153296124del18;153295906C>T] p.[Leu386_Pro391del; Arg458His] in-frame insertion or deletion, missense c-term Unknown Rett syndrome-not certain Female 3874 View details
c.[1373G>A; 1448_*29del43] g.[153295906C>T;153295789_153295831del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Rett syndrome-not certain Female 3875 View details
c.1373G>A g.153295906C>T p.Arg458His missense c-term Polymorphism not causing disease Not Rett synd. Male 3876 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Known Male 3911 View details
c.1455_1456dupTA g.153295823_153295824dupTA p.Ser486fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 3914 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3919 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3933 View details
c.1214C>T g.153296065G>A p.Pro405Leu missense C-term Unknown Not Rett synd. Female 3934 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3945 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Male 3946 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3947 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3948 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3949 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Male 3950 View details
c.1436C>T g.153295843G>A p.Thr479Met missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3951 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 3982 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3989 View details
c.948C>G g.153296331G>C p.Val316Val silent C-term Silent polymorphism Not Rett synd. Unknown 3997 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 3998 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 3999 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4045 View details
c.1451G>C g.153295828C>G p.Arg484Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4047 View details
c.1141C>G g.153296138G>C p.Pro381Ala missense C-term Polymorphism not causing disease Not Rett synd. Male 4050 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 4058 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4059 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4060 View details
c.1438C>T g.153295841G>A p.Pro480Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4061 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4072 View details
c.1126C>T g.153296153G>A p.Pro376Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4073 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4074 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4075 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4076 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4077 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4078 View details
c.1278C>T g.153296001G>A p.Ser426Ser silent C-term Silent polymorphism Rett syndrome-atypical Female 4079 View details
c.1138G>A g.153296141C>T p.Val380Met missense C-term Unknown Not Rett synd. Female 4092 View details
c.1133C>G g.153296146G>C p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 4099 View details
c.1163C>T g.153296116G>A p.Pro388Leu missense C-term Unknown Rett syndrome-classical Female 4100 View details
c.1163C>T g.153296116G>A p.Pro388Leu missense C-term Unknown Not Rett synd. Female 4101 View details
c.1128_1179del52 g.153296100_153296151del52 p.Lys377fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4106 View details
c.1162_1163delCC g.153296116_153296117delGG p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4107 View details
c.1163_1201del39 g.153296078_153296116del39 p.Pro388_Ser401delinsArg in-frame insertion or deletion C-term Unknown Not Rett synd. Female 4108 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 5300 View details
c.[1363G>T];[=] p.[Glu455*];[=] nonsense C-term Mutation associated with disease Rett syndrome-male variant Male 4198 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4219 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-male variant Male 4220 View details
c.1142_1227del86 g.153296052_153296137del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4221 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-Classical Female 4287 View details
c.[1233C>T(;)1460G>T] g.[153296046G>A;153295819C>A] p.[Ser411Ser(;)*487Leuext*27] silent, non-stop C-term Unknown Rett syndrome-Classical Female 4288 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4289 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4290 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4291 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 4292 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4308 View details
c.1189G>T g.153296090C>A p.Glu397* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4313 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4316 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4343 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Classical Female 4344 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-Classical Female 4345 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Female 4389 View details
c.1452_1453dup g.153295826_153295827dup p.Val485fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4392 View details
c.1118C>G g.153296161G>C p.Ser373* nonsense C-term Mutation associated with disease Not Known Female 4410 View details
c.1152_1195del44 g.153296084_153296127del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4411 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4412 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4413 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4414 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4415 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4416 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Male 4417 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4418 View details
c.1170_1207del38 g.153296072_153296109del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4419 View details
c.1214_1230del17 g.153296049_153296065del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 4420 View details
c.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Known Female 4421 View details
c.1357C>T g.153295922G>A p.Arg453* nonsense C-term Mutation associated with disease Not Known Female 4422 View details
c.943_1140del198ins6 p.Glu315_Val380delins2 in-frame combined insertion and deletion C-term Mutation associated with disease Not Known Female 4513 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Rett syndrome-male variant Male 4588 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4589 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4590 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4591 View details
c.1288C>T g.153295991G>A p.Pro430Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4592 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Rett syndrome-congenital Female 4593 View details
c.992A>G g.153296287T>C p.Lys331Arg missense C-term Polymorphism not causing disease Not Rett synd. Male 4594 View details
c.[1035A>G(;)1233C>T] g.[153296244T>C;153296046G>A] p.[Lys345Lys(;)Ser411Ser] silent C-term Silent polymorphism Rett syndrome-congenital Female 4595 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4604 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4605 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4606 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4607 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4608 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Not Rett synd. Unknown 4609 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4610 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4611 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4612 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 4613 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Not Rett synd. Unknown 4614 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Male 4615 View details
c.985G>A g.153296294C>T p.Gly329Ser missense C-term Polymorphism not causing disease Not Rett synd. Female 4616 View details
c.942C>T g.153296337G>A p.Ile314Ile silent C-term Silent polymorphism Not Rett synd. Unknown 4617 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 4626 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 4635 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Female 4675 View details
c.[1121_1311del191; 1326_1334del9] g.[153295968_153296158del191;153295945_153295953del9] p.Glu374fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4708 View details
c.1157_1188del32 g.153296091_153296122del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4709 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4710 View details
c.1160_1166del7 g.153296113_153296119del7 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4711 View details
c.1163_1197del35 g.153296082_153296116del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4712 View details
c.1162_1179del18 g.153296100_153296117del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 4714 View details
c.999G>T g.153296280C>A p.Gly333Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4755 View details
c.1161C>T g.153296118G>A p.Pro387Pro silent C-term Silent polymorphism Rett syndrome-not certain Female 4756 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4757 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Rett syndrome-not certain Female 4758 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4770 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4771 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4772 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4773 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4774 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 4775 View details
c.1159_1160delCCinsT g.153296119_153296120delinsA p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Male 4776 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4790 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4791 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4792 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 4793 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4794 View details
c.1065C>A g.153296214G>T p.Ser355Arg missense C-term Unknown Rett syndrome-classical Female 4802 View details
c.1030C>G g.153296249G>C p.Arg344Gly missense C-term Unknown Rett syndrome-classical Female 4803 View details
c.996C>T g.153296283G>A p.Ser332Ser silent C-term Silent polymorphism Rett syndrome-atypical Female 4804 View details
c.[602C>T(;) 1157_1197del41] g.[153296677G>A;153296082_153296122del41] p.[Ala201Val(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4805 View details
c.964C>G g.153296315G>C p.Pro322Ala missense C-term Unknown Rett syndrome-classical Female 4817 View details
c.1093_1095delGAG g.153296184_153296186delCTC p.Glu365del in-frame insertion or deletion C-term Unknown Rett syndrome-classical Female 4818 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Female 4819 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Female 4820 View details
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG p.Pro389* in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4821 View details
c.1363G>T g.153295916C>A p.Glu455* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 4851 View details
c.1117_1203del87 g.153296076_153296162del87 p.Ser373_Ser401del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 4852 View details
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-classical Female 4853 View details
c.1160_1200del41insAGGGGTGG g.153296079_153296119delinsCCACCCCT p.Pro387_Thr400delinsGlnGlyTrp in-frame combined insertion and deletion C-term Unknown Rett syndrome-classical Female 4854 View details
c.1161_1166del6 g.153296113_153296118del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Unknown Not Rett synd. Female 4855 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 4856 View details
c.1164_1194del31 g.153296085_153296115del31 p.Pro391fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4857 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-atypical Female 4861 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Rett syndrome-atypical Female 4863 View details
c.1326C>T g.153295953G>A p.Thr442Thr silent C-term Silent polymorphism Rett syndrome-atypical Female 4864 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Not Rett synd. Female 4888 View details
c.932C>T g.153296347G>A p.Thr311Met missense C-term Unknown Not Rett synd. Female 4889 View details
c.1028_1158del g.153296121_153296251del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 4890 View details
c.1030C>T g.153296249G>A p.Arg344Trp missense C-term Unknown Rett syndrome-atypical Female 4891 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4892 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4893 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4894 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4895 View details
c.1151C>T g.153296128G>A p.Pro384Leu missense C-term Unknown Not Rett synd. Female 4896 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Male 4897 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Female 4898 View details
c.1441G>A g.153295838C>T p.Val481Met missense C-term Unknown Rett syndrome-classical Female 4899 View details
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] g.[153296200_153296202delGAG;153296137G>A;153296079_153296122del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] frameshift insertion or deletion, missense C-term Mutation associated with disease Rett syndrome-classical Female 4902 View details
c.1216C>T g.153296063G>A p.Gln406* nonsense C-term Mutation associated with disease Rett syndrome-not certain Female 4914 View details
c.1153_1188del36 g.153296091_153296126del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Rett syndrome-not certain Female 4916 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 4922 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 4931 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Male 4966 View details
c.1233_1243del11 g.153296036_153296046del11 p.Ser411fs frameshift insertion or deletion C-term Unknown Not Rett synd. Female 4967 View details
c.1155_1166del12 g.153296113_153296124del12 p.Leu386_Pro389del in-frame insertion or deletion C-term Unknown Rett syndrome-atypical Female 5059 View details
c.1437G>A g.153295842C>T p.Thr479Thr silent C-term Silent polymorphism Rett syndrome-atypical Female 5061 View details
c.1101_1201del101 g.153296078_153296178del101 p.His367fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5063 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5068 View details
c.1152_*29del g.153295789_153296127del p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5071 View details
c.1053C>G g.153296226G>C p.Pro351Pro silent C-term Silent polymorphism Not Rett synd. Male 5080 View details
c.1180_1181insT g.153296098_153296099insA p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 5110 View details
c.962_1267delinsG g.153296012_153296317delinsC p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Not Rett synd. Female 5133 View details
c.[1123_1189del;1249_1270del] g.[153296090_153296156del;153296009_153296030del] p.Ser375Argfs*12 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 5134 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 5135 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5138 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5139 View details
c.[184-?_1065+?del; *5338_*5361+?del] g.[153296214_153297851del;153290457_153290480del] p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 5140 View details
c.984C>A g.153296295G>T p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5206 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5207 View details
c.984C>T g.153296295G>A p.Leu328Leu silent C-term Silent polymorphism Not Rett synd. Unknown 5208 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 5209 View details
c.1035A>G g.153296244T>C p.Lys345Lys silent C-term Silent polymorphism Not Rett synd. Unknown 5210 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5211 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 5212 View details
c.1189G>A g.153296090C>T p.Glu397Lys missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5213 View details
c.1196C>T g.153296083G>A p.Pro399Leu missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5214 View details
c.1197C>T g.153296082G>A p.Pro399Pro silent C-term Silent polymorphism Not Rett synd. Unknown 5215 View details
c.1206C>T g.153296073G>A p.Pro402Pro silent C-term Silent polymorphism Rett syndrome-not certain Female 5216 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Rett syndrome-not certain Female 5217 View details
c.1233C>T g.153296046G>A p.Ser411Ser silent C-term Silent polymorphism Not Rett synd. Unknown 5218 View details
c.1234G>A g.153296045C>T p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5219 View details
c.1234G>A g.153296045C>T p.Val412Ile missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5220 View details
c.1266C>T g.153296013G>A p.Gly422Gly silent C-term Silent polymorphism Not Rett synd. Unknown 5221 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 5222 View details
c.1335G>A g.153295944C>T p.Thr445Thr silent C-term Silent polymorphism Not Rett synd. Unknown 5223 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5224 View details
c.1433G>A g.153295846C>T p.Arg478Gln missense C-term Polymorphism not causing disease Not Rett synd. Female 5225 View details
c.1180G>A g.153296099C>T p.Glu394Lys missense C-term Polymorphism not causing disease Not Rett synd. Male 5237 View details
c.[1104_1106del3;1157_1197del41] g.[153296173_153296175del3;153296082_153296122del41] p.[His372del;Leu386fs] in-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5244 View details
c.[1089_1129del41;1156_1197del42] g.[153296150_153296190del41;153296082_153296123del42] p.Lys364Glyfs*13 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5245 View details
c.[1024_1025insAG;1029delG;1155_1209del55] g.[153296254_153296255insCT;153296250delC;153296070_153296124del55] p.Proro342_Proro403delins44 combined in-frame insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5246 View details
c.[1137C>T;1157_1200del44] g.[153296142G>A;153296079_153296122del44] p.[Pro379Pro;Leu386fs] silent, frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5247 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 5250 View details
c.1408_1411del4insTG g.153295868_153295871delinsCA p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5251 View details
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5253 View details
c.1449G>A g.153295830C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6872 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6871 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6870 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6869 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6867 View details
c.1197C>T g.153296082G>A silent C-term Silent polymorphism Not Rett synd. Female 6868 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6866 View details
c.1168_1173del6 g.153296106_153296111del6 frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6865 View details
c.1133C>G g.153296146G>C Missense C-term Polymorphism not causing disease Not Rett synd. Female 6864 View details
c.1035A>G g.153296244T>C silent C-term Silent polymorphism Not Rett synd. Female 6863 View details
c.996C>T g.153296283G>A silent C-term Silent polymorphism Not Rett synd. Female 6862 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-preserved speech Female 6758 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-classical Female 6757 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Rett syndrome-atypical Female 6756 View details
c.1164_1207del44 g.153296072_153296115del44 p.Proro389* nonsense C-term Mutation associated with disease Not Known Female 6755 View details
c.1163_1200del38 g.153296079_153296116del38 p.Pro388Glnfs*4 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-preserved speech Female 6754 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 6753 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386Hisfs*5 frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6752 View details
c.[1104_1106del3(;) 1157_1197del41] g.[153296173_153296175del3;153296082_153296122del41] p.[His372del(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6676 View details
c.[1161_1166del6; 1180_1205del26] g.[153296113_153296118del6;153296074_153296099del26] p.[Pro390_Pro391del; Glu394fs] frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6675 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Male 6673 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6674 View details
c.1085_1197del113 g.153296082_153296194del113 p.Pro362fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6671 View details
c.1053_1156del104 g.153296123_153296226del104 p.Lys352fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6672 View details
c.1105delC g.153296174delG p.His369fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6670 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6669 View details
c.1135_1142del8 g.153296137_153296144del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6668 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6664 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6663 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6662 View details
c.1164_1207del44 g.153296072_153296115del44 p.Pro389* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6661 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6660 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6659 View details
c.1157_1200del44 g.153296079_153296122del44 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6658 View details
c.1152_1292del141 g.153295987_153296127del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6657 View details
c.1157_1184del28 g.153296095_153296122del28 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6656 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6655 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6654 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-forme fruste Female 6653 View details
c.1157_1197del41 g.153296082_153296122del41 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6652 View details
c.1157_1199del43 g.153296080_153296122del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6651 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6650 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6649 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6648 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Not Rett synd. Male 6647 View details
c.1163_1188del26 g.153296091_153296116del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6646 View details
c.1173_1207del35 g.153296072_153296106del35 p.Glu392* frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6645 View details
c.1324_1364del41 g.153295915_153295955del41 p.Thr442fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6644 View details
c.1197dupC g.153296082dupG p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6643 View details
c.1308_1309delTC g.153295970_153295971delGA p.Gln437fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-classical Female 6642 View details
c.1147_1174del28 g.153296105_153296132del28 p.Leu383fs frameshift insertion or deletion C-term Mutation associated with disease Not Rett synd. Female 6639 View details
c.1250A>T g.153296029T>A p.Lys417Met missense C-term Unknown Not Rett synd. Male 6619 View details
c.961A>G g.153296318T>C p.Lys321Glu missense C-term Unknown Rett syndrome-classical Female 6616 View details
c.1141C>T g.153296138G>A p.Pro381Ser missense C-term Unknown Rett syndrome-preserved speech Female 6615 View details
c.1168_1173del6 g.153296106_153296111del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Not Rett synd. Male 6614 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Female 6581 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Male 6580 View details
c.1210G>A g.153296069C>T p.Glu404Lys missense C-term Unknown Rett syndrome-classical Female 6579 View details
c.1114C>T g.153296165G>A p.His372Tyr missense C-term Unknown Not Known Female 6575 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6349 View details
c.965C>T g.153296314G>A p.Pro322Leu missense C-term Unknown Rett syndrome-classical Female 6348 View details
c.[964C>G(;)*98dupA] g.[153296315G>C;153295720dupT] p.Pro322Ala missense, 3'UTR variation C-term Unknown Rett syndrome-classical Female 6346 View details
c.1189G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6914 View details
c.1255C>T g.153296024G>A missense C-term Unknown Not Rett synd. Female 6912 View details
c.1193A>C g.153296086T>G missense C-term Polymorphism not causing disease Not Rett synd. Male 6910 View details
c.1316C>T g.153295963G>A missense C-term Polymorphism not causing disease Not Rett synd. Female 6909 View details
MECP2_e1: c.1225G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6905 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6906 View details
c.1358G>A g.153295921C>T missense C-term Unknown Not Known Female 6904 View details
c.1189G>A g.153296090C>T nonsense C-term Polymorphism not causing disease Not Known Female 6902 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Known Female 6896 View details
MECP2_e1: c.1453G>C g.153295862C>G missense C-term Unknown Not Rett synd. Male 6901 View details
c.[1189G>A(;)*55C>G] g.[153296090C>T;153295763G>C] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Not Known Female 2055 View details
c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3048 View details
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd. Female 6582 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion exon 1 Mutation associated with disease Not Rett synd. Female 6628 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd. Female 6627 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Rett syndrome-classical Female 6626 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6625 View details
MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Rett syndrome-classical Female 6624 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6623 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Not Rett synd. Female 6622 View details
c.605G>A g.153296674C>T p.Ala202His Missense Inter-domain Unknown Rett syndrome-atypical Female 5330 View details
c.506_507dupAG g.153296772_153296773dupCT p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Not Rett synd. Male 6638 View details
c.[502C>T; 880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6621 View details
c.499C>T g.153296780G>A p.Arg167Trp missense Inter-domain Unknown Not Rett synd. Male 6591 View details
c.518C>G g.153296761G>C p.Pro173Arg missense Inter-domain Unknown Not Rett synd. Female 6590 View details
c.535C>T g.153296744G>A p.Pro179Ser missense inter-domain Unknown Not Rett synd. Female 6588 View details
c.611C>A g.153296668G>T p.Ser204* nonsense inter-domain Mutation associated with disease Rett syndrome-classical Female 6587 View details
c.611C>G g.153296668G>C p.Ser204* nonsense inter-domain Mutation associated with disease Rett syndrome-classical Female 6586 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6501 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6500 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6499 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6498 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6497 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6496 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6495 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6494 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6493 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6492 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6491 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6490 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6489 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6488 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6487 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6486 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6485 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6484 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6483 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6482 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6481 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6480 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6479 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6478 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6477 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6476 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6475 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6474 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6473 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6472 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6471 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6470 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6469 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6468 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6467 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6466 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6462 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6461 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 46 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112 View details
c.601dupG g.153296678dupC p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 135 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 141 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 142 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 151 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 173 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 174 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 175 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 176 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 177 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 195 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 196 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 197 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 209 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 210 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 217 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 270 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 271 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 272 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 273 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 274 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 275 View details
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 276 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 301 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 373 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 375 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 376 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 407 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 408 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 412 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 416 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 430 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Atypical Female 431 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 432 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 457 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 458 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1006 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1005 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1004 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1003 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Classical Female 952 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931 View details
c.592A>T g.153296687T>A p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 925 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 923 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 892 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 893 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 891 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 877 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 876 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 875 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 849 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 848 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 847 View details
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 1013 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1078 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1079 View details
c.554delG g.153296725delC p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1109 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1124 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1125 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1126 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1160 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1161 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1162 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Unknown 1193 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1228 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Rett synd. Male 1239 View details
c.488_489delGG g.153296790_153296791delCC p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1240 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Female 1241 View details
c.531delA g.153296748delT p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1247 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1307 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1308 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1309 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1310 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1311 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1312 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1313 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1314 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1315 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1316 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1317 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1318 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1319 View details
c.508C>T g.153296771G>A p.Gln170* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1320 View details
c.613G>T g.153296666C>A p.Glu205* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1321 View details
c.517C>G g.153296762G>C p.Pro173Ala Missense Inter-domain region Unknown Rett syndrome-Not certain Unknown 1370 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 1371 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1445 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1446 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1447 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1448 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467 View details
c.566delG g.153296713delC p.Gly189fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1468 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1485 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1486 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1487 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1488 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1489 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1490 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 1493 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1534 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1535 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1547 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Male 1564 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Female 1565 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Female 1576 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1599 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1600 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604 View details
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Male 1613 View details
c.527C>G g.153296752G>C p.Pro176Arg Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1614 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Not certain Male 1640 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1656 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667 View details
c.529A>T g.153296750T>A p.Lys177* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1674 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676 View details
c.523A>T g.153296756T>A p.Lys175* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1679 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1726 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 1811 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1850 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1851 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861 View details
c.598A>T g.153296681T>A p.Lys200* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1862 View details
c.611_612delinsAG g.153296667_153296668delinsCT p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1873 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Rett synd. Male 1891 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937 View details
c.611C>G g.153296668G>C p.Ser204* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1943 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1954 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1955 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1973 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2037 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Not Known Female 2044 View details
c.617delG g.153296662delC p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2091 View details
c.608C>T g.153296671G>A p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2123 View details
c.590C>T g.153296689G>A p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Not Known Female 2124 View details
c.585C>T g.153296694G>A p.Gly195Gly Silent Inter-domain region Silent polymorphism Not Known Female 2136 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262 View details
c.587C>G g.153296692G>C p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 2368 View details
c.591G>A g.153296688C>T p.Thr197Thr Silent Inter-domain region Silent polymorphism Not Rett synd. Male 2375 View details
c.582C>T g.153296697G>A p.Ser194Ser Silent Inter-domain region Silent polymorphism Rett syndrome-Congenital onset Female 2401 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2404 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2420 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2422 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2427 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2441 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2454 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2458 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2462 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2463 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2469 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2474 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2485 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 2541 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2593 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2594 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2595 View details
c.611C>G g.153296668G>C p.Ser204* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2596 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 2632 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 2652 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2665 View details
c.617G>C g.153296662C>G p.Gly206Ala missense inter-domain region Unknown Not Rett synd. Male 2666 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Male 2746 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2747 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2748 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2749 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2750 View details
c.609G>A g.153296670C>T p.Thr203Thr silent inter-domain region Silent polymorphism Not Rett synd. Male 2751 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2767 View details
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 2771 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Female 2772 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2895 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2938 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2939 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-atypical Female 2964 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2978 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2979 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2980 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3003 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3004 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013 View details
c.[528C>G; 897C>T] g.[153296751G>C;153296382G>A] p.[Pro176Pro; Thr299Thr] silent inter-domain region Silent polymorphism Not Rett synd. Male 3021 View details
c.573C>T g.153296706G>A p.Pro191Pro silent inter-domain region Silent polymorphism Not Rett synd. Male 3022 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3023 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Male 3024 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3029 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3030 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3031 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3040 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3181 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3182 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3183 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3184 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3185 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3186 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3187 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3188 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3189 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3190 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3191 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3192 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3193 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3194 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3195 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3196 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3197 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3198 View details
c.538A>T g.153296741T>A p.Lys180* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3199 View details
c.592A>T g.153296687T>A p.Arg198* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3200 View details
c.488_1189del702 g.153296090_153296791del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3261 View details
c.608_609insA g.153296670_153296671insT p.Ser204fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3262 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3354 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3367 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3368 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3369 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3406 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3407 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3408 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3466 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3467 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3468 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3469 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3470 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3471 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3472 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3473 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3474 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3475 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3476 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3477 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3478 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3515 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3567 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3568 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3569 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3570 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3571 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3572 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3573 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3574 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3575 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3576 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3577 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3578 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3688 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3689 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3690 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3691 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3692 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3693 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3694 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3695 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3696 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3697 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3698 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3699 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3700 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3701 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3702 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3703 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3704 View details
c.508C>T g.153296771G>A p.Gln170* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3705 View details
c.543_544delTC g.153296735_153296736delGA p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 3745 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3791 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 3804 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3808 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3815 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3929 View details
c.514C>T g.153296765G>A p.Pro172Ser missense inter-domain region Unknown Not Rett synd. Female 3937 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 3938 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3939 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3941 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3942 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3943 View details
c.527C>G g.153296752G>C p.Pro176Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3944 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3952 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3953 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3954 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3955 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3956 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3957 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3975 View details
c.547G>C g.153296732C>G p.Gly183Arg missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 3981 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4051 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4052 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4053 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4054 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4055 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4056 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4067 View details
c.484dupA g.153296795dupT p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 4084 View details
c.495delC g.153296784delG p.Ser166fs frameshift insertion or deletion inter-domain region Mutation associated with disease Not Known Female 4102 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4140 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4141 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4142 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4143 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4144 View details
c.515C>T g.153296764G>A p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4179 View details
c.515C>T g.153296764G>A p.Pro172Leu missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4180 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4200 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-male variant Male 4222 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4251 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4252 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4253 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4254 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4255 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4256 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4257 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4258 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4259 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4260 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Rett syndrome-not certain Female 4273 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4371 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4372 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4373 View details
c.566dupG g.153296713dupC p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4374 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Female 4375 View details
c.603G>A g.153296676C>T p.Ala201Ala silent inter-domain region Silent polymorphism Not Rett synd. Female 4391 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4458 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Rett synd. Female 4459 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4460 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4461 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4462 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4465 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Known Female 4466 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Rett synd. Female 4467 View details
c.518C>G g.153296761G>C p.Pro173Arg missense inter-domain region Unknown Not Known Female 4468 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4471 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 4472 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Known Female 4473 View details
c.596C>A g.153296683G>T p.Pro199His missense inter-domain region Unknown Not Rett synd. Female 4620 View details
c.587C>G g.153296692G>C p.Thr196Ser missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 4621 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4627 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 4628 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4715 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4716 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Rett syndrome-not certain Female 4750 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4751 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4752 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4811 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4842 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4843 View details
c.[426C>T(;) 502C>T] g.[153296853G>A;153296777G>A] p.[Phe142Phe(;) Arg168*] nonsense, silent inter-domain region Mutation associated with disease Rett syndrome-classical Female 4844 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 4858 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Rett syndrome-atypical Female 4859 View details
c.608C>T g.153296671G>A p.Thr203Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 4860 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4870 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4871 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4872 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4873 View details
c.574A>T g.153296705T>A p.Lys192* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4874 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5055 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5056 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5057 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 5069 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Rett syndrome-not certain Female 5070 View details
c.590C>T g.153296689G>A p.Thr197Met missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5076 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5077 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 5078 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5079 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Rett syndrome-not certain Female 5186 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 5187 View details
c.582C>T g.153296697G>A p.Ser194Ser silent inter-domain region Silent polymorphism Not Rett synd. Unknown 5188 View details
c.587C>G g.153296692G>C Missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 6855 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6853 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6854 View details
c.573delC g.153296706delG p.Ser194Alafs*16 frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-congenital onset Female 6738 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 6737 View details
c.608C>T g.153296671G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 6911 View details
c.590C>T g.153296689G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 6908 View details
c.[502C>T(;)1326C>T] g.[153296777G>A;153295953G>A] p.[Arg168*(;)Thr442Thr] nonsense, silent inter-domain region, C-term Mutation associated with disease Rett syndrome-classical Female 2820 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 129 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 132 View details
c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Not certain Unknown 134 View details
c.[590C>T(;)674C>T] g.[153296689G>A;153296605G>A] p.[Thr197Met(;)Pro225Arg] Missense Inter-domain region, TRD Mutation associated with disease Rett syndrome-Atypical Female 374 View details
c.[608C>T(;)763C>T] g.[153296671G>A;153296516G>A] p.[Thr203Met(;)Arg255*] Missense, nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 475 View details
c.[609G>A(;)905C>T] g.[153296670C>T;153296374G>A] p.[Thr203Thr(;)Pro302Leu] Silent, missense Inter-domain region, TRD Unknown Rett syndrome-Not certain Female 1875 View details
c.[502C>T(;)897C>T] g.[153296777G>A;153296382G>A] p.[Arg168*(;)Thr299Thr] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2246 View details
c.[502C>T(;)750C>A] g.[153296777G>A;153296529G>T] p.[Arg168*(;)Arg250Arg] Nonsense, silent Inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 2455 View details
c.[590C>T(;)916C>T] g.[153296689G>A;153296363G>A] p.[Thr197Met(;)Arg306Cys] missense inter-domain region, TRD Mutation associated with disease Rett syndrome-Classical Female 4285 View details
c.[535C>T(;) 763C>T] g.[153296744G>A;153296516G>A] p.[Pro179Ser(;) Arg255*] missense, nonsense inter-domain region, TRD Unknown Rett syndrome-classical Female 4795 View details
c.[584_624del41insTT; 638delTinsCA] g.[153296655_153296695delinsAA;153296641delinsTG] p.[Gly195_Gln208delinsVal; Leu213Profs*23] frameshift combined insertion and deletion inter-domain region, TRD Mutation associated with disease Rett syndrome-classical Female 4933 View details
c.[502C>T;880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-not certain Female 5242 View details
c.[502C>T;1180G>A];[832G>A] p.[Arg168*];[Ala278Thr] nonsense, missense inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5235 View details
c.[488_995del508;1061_1062delGC;1229_1240del12] g.[153296284_153296791del508;153296217_153296218delGC;153296039_153296050del12] p.Gly163Alafs*5 in-frame insertion or deletion, frameshift insertion or deletion inter-domain region, TRD, C-term Mutation associated with disease Rett syndrome-not certain Female 5248 View details
c.616_1122del507 g.153296157_153296663del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 3749 View details
c.[518C>G(;)678delT] g.[153296761G>C;153296601delA] p.[Pro173Arg(;)Gln227fs] missense inter-domain, TRD Mutation associated with disease Rett syndrome-classical Female 6589 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3866 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20 View details
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207 View details
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208 View details
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 212 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 253 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 284 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Atypical Female 470 View details
c.27-8C>G g.153298016G>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 479 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1023 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1233 View details
c.27-6C>G g.153298014G>C p.Arg9fs Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 1355 View details
c.377+2T>G g.153297656A>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Not certain Unknown 1356 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Unknown 1372 View details
c.377+6_377+9del g.153297649_153297652del intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1382 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1383 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1384 View details
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1562 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1563 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1575 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1583 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1584 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1585 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1586 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1596 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Unknown 1597 View details
c.26+2T>A g.153357640A>T intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1629 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1638 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1646 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1647 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1817 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1818 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829 View details
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1975 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1976 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1977 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027 View details
c.[377+22C>G; 378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2029 View details
c.[377+22C>G(;)378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2045 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063 View details
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101 View details
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2384 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2385 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2386 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2387 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2517 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2518 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2630 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2631 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2642 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2649 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2650 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2651 View details
c.27-55G>A g.153298063C>T intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2661 View details
c.377+18C>G g.153297640G>C intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2662 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2663 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 2745 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2764 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2765 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2766 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 2780 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800 View details
c.378-2A>T g.153296903T>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-not certain Female 3594 View details
MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 3762 View details
c.377+1G>T g.153297657C>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3763 View details
c.378-3C>G g.153296904G>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3764 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-classical Female 3799 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3918 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3921 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3922 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3923 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3924 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3925 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3926 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3927 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3928 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3931 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3932 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3935 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3936 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3976 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3990 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3991 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3992 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3993 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3994 View details
c.377+266T>C g.153297392A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4199 View details
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4337 View details
c.377+1G>A g.153297657C>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Classical Female 4348 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4349 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4350 View details
c.378-14G>A g.153296915C>T intronic variation intronic variation intronic Unknown Rett syndrome-Classical Female 4351 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4352 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4353 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4354 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4355 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4356 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4357 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4358 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4388 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4390 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5082 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5083 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5084 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5085 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5086 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5087 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5088 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5089 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5090 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5091 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5092 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5093 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5094 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5095 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5096 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5097 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5098 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5141 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5142 View details
c.377+28A>G g.153297630T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5143 View details
c.377+30G>A g.153297628C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5144 View details
c.378-70C>G g.153296971G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5145 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5146 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5147 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5148 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5149 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5150 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5151 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5152 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5153 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5154 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5155 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5156 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5157 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5158 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5159 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5160 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5161 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5162 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5163 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5164 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5165 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5166 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5167 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5168 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5169 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5170 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5171 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5172 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5173 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5174 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5175 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5176 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5177 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5178 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5179 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5180 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5181 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5182 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5183 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5184 View details
c.378-2A>C g.153296903T>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6603 View details
c.27-8C>G g.153298016G>C intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 6353 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6352 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6351 View details
c.378-3C>G g.153296904G>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6350 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6852 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6851 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6850 View details
c.378-65C>G g.153296966G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6849 View details
c.378-74C>T g.153296975G>A intronic intronic Polymorphism not causing disease Not Rett synd. Female 6848 View details
c.377+22C>G g.153297636G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6847 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2831 View details
c.[378-61C>G; *93G>A] g.[153296962G>C;153295725C>T] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Not Rett synd. Male 1979 View details
c.[377+28A>G(;)1014C>T] g.[153297630T>C;153296265G>A] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 4334 View details
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease Rett syndrome-Classical Female 4335 View details
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. Female 2053 View details
c.[378-109A>G;518C>G] g.[153297010T>C;153296761G>C] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Not Rett synd. Female 5239 View details
c.[378-74C>T(;)473C>T] g.[153296975G>A;153296806G>A] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Rett syndrome-Atypical Female 4336 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 5 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 15 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Not certain Female 28 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Not certain Female 45 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 58 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 59 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 60 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 61 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 62 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 63 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 64 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 65 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 66 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 67 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 68 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 69 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 70 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 71 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 72 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 106 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 107 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 108 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 109 View details
c.258_259delCA g.153297776_153297777delTG p.Ile87fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 123 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 139 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 145 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 146 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154 View details
c.372G>C g.153297663C>G p.Leu124Phe Missense MBD Unknown Rett syndrome-Classical Female 155 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 156 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 157 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 158 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 159 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 160 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 161 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 162 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 163 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 164 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 165 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 166 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 167 View details
c.375delC g.153297660delG p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 185 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Rett syndrome-Not certain Female 190 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 192 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 193 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 218 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 219 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 220 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 221 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 222 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 223 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 224 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 225 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 226 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 227 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 228 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 229 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 230 View details
c.481G>T g.153296798C>A p.Gly161Trp Missense MBD Unknown Rett syndrome-Not certain Unknown 231 View details
c.439delG g.153296840delC p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 254 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 263 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 264 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 265 View details
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Female 266 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 267 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 268 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Preserved speech Female 291 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 295 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 296 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 297 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 298 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 299 View details
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 330 View details
c.431delA g.153296848delT p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 331 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 354 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 359 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 361 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 362 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 363 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Rett syndrome-Atypical Female 364 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 365 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 368 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 370 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 379 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 380 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 383 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 402 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 404 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 405 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 419 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 422 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 426 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 434 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 439 View details
c.[397C>T(;)438C>T] g.[153296882G>A;153296841G>A] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Rett syndrome-Classical Female 440 View details
c.480_481delTG g.153296798_153296799delCA p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 443 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 447 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 453 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 461 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 463 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 465 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Unknown 1002 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 953 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 934 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 928 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 924 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 890 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 888 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 889 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 886 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 887 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 884 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 885 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 882 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Unknown 883 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 880 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Unknown 881 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 868 View details
c.463T>A g.153296816A>T p.Phe155Ile Missense MBD Unknown Rett syndrome-Not certain Unknown 867 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866 View details
c.291C>A g.153297744G>T p.Asp97Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 865 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 864 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 863 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 844 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 841 View details
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 840 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 839 View details
c.410A>G g.153296869T>C p.Glu137Gly Missense MBD Mutation associated with disease Not Rett synd. Male 1012 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1014 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1015 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1031 View details
c.464T>C g.153296815A>G p.Phe155Ser Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1032 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1033 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1034 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1035 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1036 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1037 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1038 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1039 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1040 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1041 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1042 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1043 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1044 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1045 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1046 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1047 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1048 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1049 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1050 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1051 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1052 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1053 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1063 View details
c.430A>T g.153296849T>A p.Lys144* Nonsense MBD Mutation associated with disease Rett syndrome-Not certain Female 1064 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1123 View details
c.257C>G g.153297778G>C p.Ser86Cys Missense MBD Unknown Rett syndrome-Not certain Female 1138 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1139 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145 View details
c.302C>G g.153297733G>C p.Pro101Arg Missense MBD Unknown Not Rett synd. Female 1152 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Not Rett synd. Female 1154 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1163 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1164 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1165 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1177 View details
c.[=/398G>A] p.[=/Arg133His] Missense MBD Unknown Rett syndrome-Male variant Male 1182 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1197 View details
c.345delC g.153297690delG p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Classical Female 1201 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1212 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1214 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Classical Female 1215 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1217 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219 View details
c.289G>T g.153297746C>A p.Asp97Tyr Missense MBD Unknown Rett syndrome-Classical Female 1221 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1225 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1226 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1243 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-Not certain Female 1244 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1245 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1246 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1265 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1266 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1267 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1268 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1269 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1270 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1271 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1272 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1273 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1274 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1275 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1276 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1277 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1278 View details
c.331A>G g.153297704T>C p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1279 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1280 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1281 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1282 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1283 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1284 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1285 View details
c.403A>G g.153296876T>C p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1286 View details
c.403A>G g.153296876T>C p.Lys135Glu Missense MBD Unknown Rett syndrome-Not certain Unknown 1287 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1288 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1289 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1290 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1291 View details
c.467A>G g.153296812T>C p.Asp156Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1292 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1293 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1294 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1295 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1296 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1297 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1298 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1299 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1300 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1387 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1396 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1397 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1398 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1399 View details
c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Rett syndrome-Male variant Male 1434 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Classical Female 1436 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1438 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1439 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1440 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1441 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1442 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1443 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1444 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1460 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 1461 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1462 View details
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-Preserved speech Female 1463 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1464 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1465 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1466 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1479 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 1480 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1481 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482 View details
c.411delG g.153296868delC p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1484 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1504 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1505 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1506 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Unknown 1507 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1508 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1509 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-classical Unknown 1521 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Rett syndrome-classical Unknown 1522 View details
c.451delG g.153296828delC p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-atypical Unknown 1526 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Female 1556 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-atypical Female 1559 View details
c.422dupA g.153296857dupT p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1561 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1621 View details
c.469T>A g.153296810A>T p.Phe157Ile Missense MBD Unknown Rett syndrome-Not certain Female 1622 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1631 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1639 View details
c.428_429insT g.153296850_153296851insA p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1641 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1645 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-Not certain Female 1648 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1661 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1663 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1665 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1666 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 1669 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1672 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Male variant Male 1673 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1685 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Not Known Female 1687 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1715 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1723 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727 View details
c.401C>T g.153296878G>A p.Ser134Phe Missense MBD Unknown Not Known Female 1740 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1746 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1749 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1764 View details
c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Not Known Female 1766 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1779 View details
c.468C>G g.153296811G>C p.Asp156Glu Missense MBD Unknown Not Known Female 1788 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Not Known Female 1793 View details
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 1798 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 1802 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Not Known Female 1805 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Not certain Female 1822 View details
c.375C>A g.153297660G>T p.Ile125Ile Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1826 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1836 View details
c.470dupT g.153296809dupA p.Thr158fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1839 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1847 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1855 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1864 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1874 View details
c.297C>G g.153297738G>C p.Thr99Thr Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1877 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883 View details
c.341G>C g.153297694C>G p.Gly114Ala Missense MBD Unknown Rett syndrome-Not certain Female 1884 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Male 1885 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1886 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1887 View details
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888 View details
c.378-?_*?del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1917 View details
c.315dupA g.153297720dupT p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1927 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1931 View details
c.299T>G g.153297736A>C p.Leu100Arg Missense MBD Unknown Rett syndrome-classical Female 1932 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1933 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1935 View details
c.472A>G g.153296807T>C p.Thr158Ala Missense MBD Unknown Rett syndrome-classical Female 1939 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1941 View details
c.482G>T g.153296797C>A p.Gly161Val Missense MBD Unknown Rett syndrome-atypical Female 1942 View details
c.298C>G g.153297737G>C p.Leu100Val Missense MBD Unknown Rett syndrome-atypical Female 1946 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1947 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1948 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-classical Female 1950 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1966 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1967 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1998 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2001 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2019 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2046 View details
c.479C>G g.153296800G>C p.Thr160Ser Missense MBD Unknown Not Known Female 2058 View details
c.362A>G g.153297673T>C p.Asp121Gly Missense MBD Unknown Not Known Female 2065 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Known Female 2066 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067 View details
c.464T>G g.153296815A>C p.Phe155Cys Missense MBD Unknown Rett syndrome-Atypical Female 2069 View details
c.481_987del507ins8 p.Gly161fs frameshift combined insertion and deletion MBD Mutation associated with disease Rett syndrome-Classical Female 2090 View details
c.386G>T g.153296893C>A p.Gly129Val Missense MBD Unknown Not Known Female 2137 View details
c.277C>T g.153297758G>A p.Pro93Ser Missense MBD Unknown Rett syndrome-Classical Female 2138 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Known Female 2160 View details
c.474G>A g.153296805C>T p.Thr158Thr Silent MBD Silent polymorphism Not Rett synd. Male 2161 View details
c.302C>A g.153297733G>T p.Pro101His Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2167 View details
c.302C>T g.153297733G>A p.Pro101Leu Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2168 View details
c.301C>T g.153297734G>A p.Pro101Ser Missense MBD Unknown Rett syndrome-Atypical Female 2169 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2170 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2171 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2172 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Not Rett synd. Female 2195 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2214 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2333 View details
c.401C>G g.153296878G>C p.Ser134Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2334 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2339 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2340 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2341 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2342 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2343 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2344 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2345 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2346 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2347 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2348 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2349 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2350 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2351 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2352 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2353 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 2354 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2355 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2356 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2357 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2358 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2359 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2360 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2361 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2362 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2363 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2364 View details
c.311_323del13 g.153297712_153297724del13 p.Trp104fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Atypical Female 2366 View details
c.311G>A g.153297724C>T p.Trp104* Nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2367 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2405 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2407 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2415 View details
c.423C>G g.153296856G>C p.Tyr141* Nonsense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2416 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2423 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2425 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2428 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2440 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2442 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2444 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2448 View details
c.380C>T g.153296899G>A p.Pro127Leu Missense MBD Unknown Rett syndrome-Classical Female 2457 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2461 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2464 View details
c.455C>G g.153296824G>C p.Pro152Arg Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2468 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2472 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Congenital onset Female 2478 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2480 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2483 View details
c.317G>T g.153297718C>A p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2486 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2491 View details
c.473C>T g.153296806G>A p.Thr158Met Missense MBD Mutation associated with disease Not Rett synd. Male 2492 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd. Male 2496 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2505 View details
c.426C>T g.153296853G>A p.Phe142Phe Silent MBD Silent polymorphism Not Rett synd. Female 2506 View details
c.422A>G g.153296857T>C p.Tyr141Cys Missense MBD Unknown Rett syndrome-Atypical Female 2519 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 2540 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2548 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-male variant Male 2549 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2565 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2566 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2567 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2568 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2569 View details
c.323T>A g.153297712A>T p.Leu108His missense MBD Unknown Rett syndrome-Classical Female 2570 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2571 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2572 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2573 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2574 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2575 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2576 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2577 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-Classical Female 2578 View details
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2579 View details
c.430A>T g.153296849T>A p.Lys144* nonsense MBD Mutation associated with disease Rett syndrome-Classical Female 2580 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-Classical Female 2581 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2582 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2583 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2584 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2585 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2586 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2587 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2588 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2589 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2590 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2591 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-Classical Female 2592 View details
c.289G>T g.153297746C>A p.Asp97Tyr missense MBD Unknown Rett syndrome-not certain Female 2646 View details
c.393C>G g.153296886G>C p.Ala131Ala silent MBD Silent polymorphism Not Rett synd. Unknown 2664 View details
c.245A>G g.153297790T>C p.Lys82Arg missense MBD Polymorphism not causing disease Not Rett synd. Male 2673 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2786 View details
c.378-?_1185+?del g.153296094_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2788 View details
c.378-?_1337+?del g.153295942_153296901del p.Asn126fs exon deletion MBD Mutation associated with disease Rett syndrome-classical Female 2792 View details
c.469T>A g.153296810A>T p.Phe157Ile missense MBD Unknown Not Rett synd. Male 2795 View details
c.298C>G g.153297737G>C p.Leu100Val missense MBD Unknown Rett syndrome-classical Female 2804 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2807 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2808 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2809 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2810 View details
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811 View details
c.482G>A g.153296797C>T p.Gly161Glu missense MBD Unknown Rett syndrome-classical Female 2812 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2854 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2855 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856 View details
c.383A>C g.153296896T>G p.Gln128Pro missense MBD Unknown Rett syndrome-late regression Female 2867 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2868 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2869 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2870 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2871 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2872 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2873 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2874 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2893 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2894 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2931 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2932 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2933 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-classical Female 2934 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2935 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2936 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2937 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2954 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2955 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-atypical Female 2956 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-atypical Female 2957 View details
c.452A>G g.153296827T>C p.Asp151Gly missense MBD Unknown Rett syndrome-atypical Female 2958 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2959 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2960 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2961 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2962 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-atypical Female 2963 View details
c.401C>T g.153296878G>A p.Ser134Phe missense MBD Unknown Rett syndrome-classical Female 2986 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-classical Female 2987 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2988 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2989 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2996 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2997 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2998 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 2999 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3036 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3037 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3038 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-classical Female 3039 View details
c.423C>G g.153296856G>C p.Tyr141* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3050 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3068 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3069 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3070 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3071 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3072 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3073 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3074 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3075 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3076 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3078 View details
c.401C>G g.153296878G>C p.Ser134Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3079 View details
c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Rett syndrome-classical Female 3082 View details
c.291C>A g.153297744G>T p.Asp97Glu missense MBD Unknown Rett syndrome-not certain Female 3083 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095 View details
c.380C>T g.153296899G>A p.Pro127Leu missense MBD Unknown Rett syndrome-not certain Female 3096 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111 View details
c.403A>G g.153296876T>C p.Lys135Glu missense MBD Unknown Rett syndrome-not certain Female 3112 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3113 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3114 View details
c.422A>G g.153296857T>C p.Tyr141Cys missense MBD Unknown Rett syndrome-not certain Female 3115 View details
c.455C>G g.153296824G>C p.Pro152Arg missense MBD Mutation associated with disease Rett syndrome-not certain Female 3116 View details
c.468C>G g.153296811G>C p.Asp156Glu missense MBD Unknown Rett syndrome-not certain Female 3117 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3118 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3119 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3120 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3121 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3122 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3123 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3124 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3125 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3126 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3127 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3128 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3129 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3130 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3131 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3132 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3133 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3134 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3135 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3136 View details
c.473C>T g.153296806G>A p.Thr158Met missense MBD Mutation associated with disease Rett syndrome-not certain Female 3137 View details
c.382C>T g.153296897G>A p.Gln128* nonsense MBD Mutation associated with disease Rett syndrome-not certain Female 3169 View details