Nucleotide change |
Genomic name |
Amino acid change |
Type of sequence change |
Domain change |
Pathogenicity |
Phenotype |
Gender |
Proband ID |
View record |
MECP2_e1: c.45_47dupAGG |
|
|
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
6845 |
View details |
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 |
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.[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.820_1153del334ins67 |
|
uncertain |
combined in-frame insertion and deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
5252 |
View details |
c.[27-?_1000+?dup(;)1100_1188del89] |
g.[153296279_153298008dup;153296091_153296179del89] |
p.[?(;)His367fs] |
complex rearrangement, frameshift insertion or deletion |
MBD, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3855 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1864 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1917 |
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.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3325 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3326 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3327 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3328 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3329 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3330 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3351 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3352 |
View details |
c.378-?_*?del |
|
p.Asn126fs |
exon deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3781 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1820 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1865 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1918 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1919 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2071 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2072 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2073 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2075 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2076 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2077 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2078 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2079 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2080 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2498 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2500 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2534 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2535 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2536 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2537 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2783 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2789 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2791 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2904 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2908 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2909 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3331 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3332 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3333 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3334 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3335 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3336 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3337 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3338 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3339 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3353 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3611 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3615 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3616 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3617 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3767 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3769 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3770 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3771 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3775 |
View details |
c.27-?_*?del |
|
p.Arg9fs |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3776 |
View details |
c.-168-?_26+?del (deletion exons 1 and 2) |
|
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-congenital |
Female |
4600 |
View details |
c.631-?_657+?del |
g.153296622_153296648del |
p.? |
exonic deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3786 |
View details |
c.27-?_*?del (deletion of exons 3 and 4) |
|
p.Arg9? |
exonic deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4934 |
View details |
c.27-?_*?del (deletion of exons 3 and 4) |
|
p.Arg9? |
exonic deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4935 |
View details |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
3768 |
View details |
c.27-?_1018+?del |
g.153296261_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3772 |
View details |
c.27-?_1018+?del |
g.153296261_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
3773 |
View details |
c.27-?_1018+?del |
g.153296261_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3774 |
View details |
c.27-?_1397+?del |
g.153295882_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3777 |
View details |
c.27-?_1397+?del |
g.153295882_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3778 |
View details |
c.27-?_1397+?del |
g.153295882_153298008del |
p.Arg9fs |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3779 |
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 |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
exonic deletions |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
5136 |
View details |
c.184-?_1065+?del |
g.153296214_153297851del |
p.? |
exonic deletions |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
5137 |
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.631-?_657+?dup |
g.153296622_153296648dup |
p.? |
exonic duplication |
MBD |
Unknown
|
Rett syndrome-preserved speech |
Female |
3787 |
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 |
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.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.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.750_750delCinsTCAGGAAGCTT |
g.153296529delinsAAGCTTCCTGA |
p.Pro251fs |
Frameshift combined insertion and deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1380 |
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.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.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.748_753del6insGGCCG |
g.153296526_153296531delinsCGGCC |
p.Arg250fs |
Frameshift combined insertion and deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1872 |
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.481_987del507ins8 |
|
p.Gly161fs |
frameshift combined insertion and deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2090 |
View details |
MECP2_e1: c.30delCinsGA |
|
MeCP2_e1: p.S10fs |
frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2497 |
View details |
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted) |
|
p.Arg9fs |
Frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2532 |
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.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.[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.27-4722_*739delins43 |
|
p.Arg9fs |
frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3342 |
View details |
c.27-4722_*112delinsCACTTTGTG |
g.153295706_153302730delinsCACAAAGTG |
p.Arg9fs |
frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3343 |
View details |
c.27-6026_1190delinsGT (deletion of exons 3 and 4) |
|
p.Arg9fs |
frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3344 |
View details |
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4) |
|
p.Arg9fs |
frameshift combined insertion and deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3349 |
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.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.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.1276_*113del299ins3 |
|
p.Ser426fs |
frameshift combined insertion and deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
4421 |
View details |
c.736_743delinsGTG |
g.153296536_153296543delinsCAC |
p.Met246fs |
frameshift combined insertion and deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
4479 |
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.[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.867_1223delinsA |
g.153296056_153296412delinsT |
p.Ser291Glnfs*26 |
frameshift combined insertion and deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4878 |
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.869_880delinsCACA |
g.153296399_153296410delinsTGTG |
p.Glu290Alafs*38 |
frameshift combined insertion and deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
5060 |
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.[27-5690_1208del7628ins42];[439G>A] |
|
p.[Arg9fs];[Asp147Asn] |
frameshift combined insertion and deletion, missense |
N-term, MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2906 |
View details |
MECP2_e1:c.62+2_63+3delTG |
|
Intronic variation |
Frameshift deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-male variant |
Male |
5327 |
View details |
c.1-?_26+?del (Deletion of exons 1 and 2) |
|
p.Met1? |
frameshift insertion of deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2907 |
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.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2 |
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.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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
21 |
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.710dupG |
g.153296569dupC |
p.Gly238fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
32 |
View details |
c.748dupC |
g.153296531dupG |
p.Arg250fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
33 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
34 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
35 |
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.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.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.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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
137 |
View details |
c.849_1236del388 |
g.153296043_153296430del388 |
p.Lys284fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
138 |
View details |
c.785_818del34 |
g.153296461_153296494del34 |
p.Gln262fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
140 |
View details |
c.914_1172del259 |
g.153296107_153296365del259 |
p.Lys305fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
143 |
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.695delG |
g.153296584delC |
p.Gly232fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
186 |
View details |
c.696delC |
g.153296583delG |
p.Lys233fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
187 |
View details |
c.756_759delCAGG |
g.153296520_153296523delCCTG |
p.Arg253fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
188 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
189 |
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.731_1166del436 |
g.153296113_153296548del436 |
p.Gln244fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
255 |
View details |
c.747_751dup5 |
g.153296528_153296532dup5 |
p.Pro251fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
256 |
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.720dupC |
g.153296559dupG |
p.Thr241fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
285 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
308 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
309 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
342 |
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.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.753dupC |
g.153296526dupG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
369 |
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.710dupG |
g.153296569dupC |
p.Gly238fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
386 |
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.1155_1200del46 |
g.153296079_153296124del46 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
429 |
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.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.812_818del7 |
g.153296461_153296467del7 |
p.Lys271fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
450 |
View details |
c.100_103delGATA |
g.153297932_153297935delTATC |
p.Asp34fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
468 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
472 |
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.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.677_678insA |
g.153296601_153296602insT |
p.Phe226fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
944 |
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.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.76delC |
g.153297959delG |
p.Leu26fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Unknown |
878 |
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.620dupT |
g.153296659dupA |
p.Gln208fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Unknown |
843 |
View details |
c.167_168delCC |
g.153297867_153297868delGG |
p.Pro56fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Known |
Male |
1024 |
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.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1110 |
View details |
c.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1111 |
View details |
c.752_753dupCC |
g.153296526_153296527dupGG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1112 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1113 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1114 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1115 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1148 |
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.167_168delCC |
g.153297867_153297868delGG |
p.Pro56fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Rett synd. |
Male |
1155 |
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.753dupC |
g.153296526dupG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Rett synd. |
Male |
1199 |
View details |
c.753dupC |
g.153296526dupG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1200 |
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.898_1099del202 |
g.153296180_153296381del202 |
p.Val300fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1202 |
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.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.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.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1252 |
View details |
c.880_884del5 |
g.153296395_153296399del5 |
p.Arg294fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1254 |
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.201delG |
g.153297834delC |
p.Ser68fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1357 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1358 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1359 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1360 |
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.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.696delC |
g.153296583delG |
p.Lys233fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1423 |
View details |
c.710dupG |
g.153296569dupC |
p.Gly238fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1424 |
View details |
c.736_737insAT |
g.153296542_153296543insAT |
p.Met246fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1425 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1426 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1452 |
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.35_42dup |
g.153297993_153298000dup |
p.Asp15fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1458 |
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.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.411delG |
g.153296868delC |
p.Glu137fs |
Frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1484 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1495 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
1496 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Female |
1497 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1498 |
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.100_103delGATA |
g.153297932_153297935delTATC |
p.Asp34fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Unknown |
1525 |
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.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.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.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1560 |
View details |
c.422dupA |
g.153296857dupT |
p.Tyr141* |
Frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Not Known |
Female |
1561 |
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.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1598 |
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.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1607 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1618 |
View details |
c.898_904del7 |
g.153296375_153296381del7 |
p.Val300fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1620 |
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.1271_1416del146 |
g.153295863_153296008del146 |
p.Leu424fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
1662 |
View details |
c.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1668 |
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.764_765ins8 |
|
p.Arg255fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1671 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
1680 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
1702 |
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.229_238del10 |
g.153297797_153297806del10 |
p.Ala77fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Known |
Female |
1713 |
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.1324_1364del41 |
g.153295915_153295955del41 |
p.Thr442fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
1721 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1734 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
1744 |
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.854dupA |
g.153296425dupT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1758 |
View details |
c.249_250ins7 |
|
p.Arg84fs |
Frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Not Known |
Female |
1766 |
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.651_652delTG |
g.153296627_153296628delCA |
p.Gly218fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1774 |
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.1157_1191del35 |
g.153296088_153296122del35 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
1780 |
View details |
c.715delG |
g.153296564delC |
p.Ala239fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1787 |
View details |
c.710dupG |
g.153296569dupC |
p.Gly238fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1795 |
View details |
c.864dupG |
g.153296415dupC |
p.Lys289fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1799 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
1812 |
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.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1815 |
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.470dupT |
g.153296809dupA |
p.Thr158fs |
Frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1839 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1841 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1843 |
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.108_111delAGAA |
g.153297924_153297927delTTCT |
p.Glu37fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1857 |
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.748dupC |
g.153296531dupG |
p.Arg250fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1866 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1870 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1871 |
View details |
c.108_111delAGAA |
g.153297924_153297927delTTCT |
p.Glu37fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1876 |
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.792_793delTC |
g.153296486_153296487delGA |
p.Pro265fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1895 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1896 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1897 |
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 |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
frameshift insertion or deletion |
N-term |
Unknown
|
Rett syndrome-Not certain |
Female |
1916 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1926 |
View details |
c.739delG |
g.153296540delC |
p.Val247fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1930 |
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.755delG |
g.153296524delC |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1951 |
View details |
c.695delG |
g.153296584delC |
p.Gly232fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1952 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1965 |
View details |
c.-168-?_*?del |
|
p.Met1? |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1980 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
1981 |
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.1157_1200del44 |
g.153296079_153296122del44 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
2008 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
2010 |
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.1155_1200del46 |
g.153296079_153296124del46 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
2021 |
View details |
c.752_753dupCC |
g.153296526_153296527dupGG |
p.Gly252fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Male |
2047 |
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.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Male |
2060 |
View details |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
frameshift insertion or deletion |
N-term |
Unknown
|
Rett syndrome-Atypical |
Female |
2074 |
View details |
c.27-?_(378_1461)del |
|
p.Arg9fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2081 |
View details |
c.27-?_(378_1461)del |
|
p.Arg9fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2082 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2083 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2084 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2085 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2086 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2087 |
View details |
[c.897C>T (+) c.(378_1461)_(378_1461)del] |
|
[p.Thr299Thr (+) p.(Asn126+Ser486)fs] |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2088 |
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.695delG |
g.153296584delC |
p.Gly232fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2092 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2093 |
View details |
c.753delC |
g.153296526delG |
p.Gly252fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2094 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2095 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2096 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2097 |
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.126dupG |
g.153297909dupC |
p.His43fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2100 |
View details |
c.654_657delGAAG |
g.153296622_153296625delCTTC |
p.Lys219fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2103 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2104 |
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.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.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.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2287 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
Frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2288 |
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 |
c.91delG |
g.153297944delC |
p.Val31* |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2365 |
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.1164_1207del44 |
g.153296072_153296115del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease
|
Not Known |
Female |
2487 |
View details |
c.(378_1461)_(378_1461)del |
|
p.(Asn126+Ser486)fs |
Frameshift insertion or deletion |
Not known |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2499 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
Frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2501 |
View details |
c.27-12521_*5072del19784 |
g.153290746_153310529del19784 |
p.Arg9fs |
Frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2531 |
View details |
c.651_652delTG |
g.153296627_153296628delCA |
p.Gly218fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2542 |
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.189_190delGA |
g.153297845_153297846delTC |
p.Glu63fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2564 |
View details |
c.753dupC |
g.153296526dupG |
p.Gly252fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2598 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2604 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2605 |
View details |
c.816_832del17 |
g.153296447_153296463del17 |
p.Gly273fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2609 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2610 |
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.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.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.27-?_*8554+?del (deletion of exons 3 and 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2644 |
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.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 |
MECP2_e1: c.48_55dup |
|
MeCP2_e1: p.G19Afs*28 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2756 |
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 |
MECP2_e1: c.59_60delGA |
|
MeCP2_e1: p.R20Tfs*40 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2781 |
View details |
c.27-?_1337+?del |
g.153295942_153298008del |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2782 |
View details |
c.27-?_1337+?del |
g.153295942_153298008del |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2784 |
View details |
c.27-?_1185+?del |
g.153296094_153298008del |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2785 |
View details |
c.27-?_1337+?del |
g.153295942_153298008del |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2787 |
View details |
c.1336-?_*?del |
|
p.? |
frameshift insertion or deletion |
N-term/MBD/interdomain/TRD/NLS/C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2790 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
2793 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
2794 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2797 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2798 |
View details |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
2801 |
View details |
MECP2_e1: c.23_27dupCGCCG |
|
MeCP2_e1: p.S10Rfs*37 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2802 |
View details |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2803 |
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.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2861 |
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.830delC |
g.153296449delG |
p.Ala277fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2882 |
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.734_759del26 |
g.153296520_153296545del26 |
p.Val245fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2887 |
View details |
c.756_763dup |
g.153296516_153296523dup |
p.Arg255fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2888 |
View details |
c.898_901del |
g.153296378_153296381del |
p.Val300fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2890 |
View details |
c.710dupG |
g.153296569dupC |
p.Gly238fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2896 |
View details |
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2905 |
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 |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
2916 |
View details |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2928 |
View details |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2929 |
View details |
c.215dupC |
g.153297820dupG |
p.Ala73fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2930 |
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.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.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
2968 |
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.-98-?_377+?del (deletion of exons 2 and 3) |
|
p.Met1? |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
2975 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3007 |
View details |
c.874_875insA |
g.153296404_153296405insT |
p.Ser292fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3008 |
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.140dupA |
g.153297895dupT |
p.Pro48fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3035 |
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.107_113del7 |
g.153297922_153297928del7 |
p.Lys36fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3255 |
View details |
c.117dupA |
g.153297918dupT |
p.Glu40fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3256 |
View details |
c.215_216insT |
g.153297819_153297820insA |
p.Ala73fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3257 |
View details |
c.382_1189del808 |
g.153296090_153296897del808 |
p.Gln128fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3258 |
View details |
c.475delG |
g.153296804delC |
p.Val159* |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3259 |
View details |
c.480delT |
g.153296799delA |
p.Arg162fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3260 |
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.676_677insA |
g.153296602_153296603insT |
p.Phe226fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3263 |
View details |
c.676_677insA |
g.153296602_153296603insT |
p.Phe226fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3264 |
View details |
c.696delC |
g.153296583delG |
p.Lys233fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3265 |
View details |
c.711_1269del559 |
g.153296010_153296568del559 |
p.Gly238fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3266 |
View details |
c.748_749insT |
g.153296530_153296531insA |
p.Arg250fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3267 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3268 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3269 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3270 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3271 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3272 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3273 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3274 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3275 |
View details |
c.830_831ins23 |
|
p.Ala277fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3277 |
View details |
c.851_1188del338 |
g.153296091_153296428del338 |
p.Lys284fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3278 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3279 |
View details |
c.865_866delAA |
g.153296413_153296414delTT |
p.Lys289fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3280 |
View details |
c.883delT |
g.153296396delA |
p.Ser295fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3281 |
View details |
c.898delG |
g.153296381delC |
p.Val300fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3282 |
View details |
c.906delC |
g.153296373delG |
p.Ile303fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3283 |
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.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.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.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.1454_1457del4 |
g.153295822_153295825del4 |
p.Val485fs |
frameshift insertion or deletion |
C-term |
Unknown
|
Rett syndrome-not certain |
Female |
3324 |
View details |
c.27-96_1205del (deletion of exon 3 and 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3340 |
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.27-3928_1184del (deletion of exons 3 and 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3345 |
View details |
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] |
|
p.Val316fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3346 |
View details |
c.[27-5862_1132del; 1157_1197del] |
g.[153296147_153303870del;153296082_153296122del] |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3347 |
View details |
c.[27-5944_1132del; 1157_1197del]
|
g.[153296147_153303952del;153296082_153296122del] |
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3348 |
View details |
c.27-?_377+?del (exon 3 deletion) |
|
p.Arg9_Asn126delinsSer |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3350 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3355 |
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.766_779dup14 |
g.153296500_153296513dup14 |
p.Asp260fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3380 |
View details |
c.76delC |
g.153297959delG |
p.Leu26fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3383 |
View details |
c.695delG |
g.153296584delC |
p.Gly232fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3409 |
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.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3411 |
View details |
c.470_471delTC |
g.153296808_153296809delGA |
p.Phe157fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-preserved speech |
Female |
3412 |
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.894_1095del202 |
g.153296184_153296385del202 |
p.Glu298fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3519 |
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.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.119_120delAG |
g.153297915_153297916delCT |
p.Glu40fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3596 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3597 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3598 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3599 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3600 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3601 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3602 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3603 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3604 |
View details |
c.881_902del22 |
g.153296377_153296398del22 |
p.Arg294fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3605 |
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.27-?_1021+?del (deletion of exons 3 and start of exon 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3612 |
View details |
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3613 |
View details |
c.27-?_1170+?del (deletion of exon 3 and part of exon 4) |
|
p.Arg9fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3614 |
View details |
c.378-?_1170+?del |
g.153296109_153296901del |
p.Asn126fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3618 |
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.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3743 |
View details |
c.107_108delAA |
g.153297927_153297928delTT |
p.Lys36fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3744 |
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.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.243dupC |
g.153297792dupG |
p.Lys82fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3750 |
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.233delC |
g.153297802delG |
p.Ser78fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3753 |
View details |
c.375delC |
g.153297660delG |
p.Asn126fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3754 |
View details |
c.695delG |
g.153296584delC |
p.Gly232fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3755 |
View details |
c.696delC |
g.153296583delG |
p.Lys233fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3756 |
View details |
c.756_759delCAGG |
g.153296520_153296523delCCTG |
p.Arg253fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3757 |
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.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3765 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3766 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3793 |
View details |
c.378-3_383del9 |
g.153296896_153296904del9 |
p.Asn126Lysfs*11 |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Not Rett synd. |
Male |
3827 |
View details |
c.119_120delAG |
g.153297915_153297916delCT |
p.Glu40fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Rett synd. |
Male |
3869 |
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.810_813delAAAG |
g.153296466_153296469delCTTT |
p.Lys271fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3872 |
View details |
c.869dupA |
g.153296410dupT |
p.Ser291fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3912 |
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.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.[=/808delC] |
|
p.[=/Arg270fs] |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
3988 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4070 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4071 |
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.755dupG |
g.153296524dupC |
p.Arg253fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4103 |
View details |
c.755dupG |
g.153296524dupC |
p.Arg253fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-male variant |
Male |
4104 |
View details |
c.819delG |
g.153296460delC |
p.Ser274fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
4105 |
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.710delG |
g.153296569delC |
p.Gly237fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4182 |
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.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.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4224 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-male variant |
Male |
4225 |
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.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.695dupG |
g.153296584dupC |
p.Lys233fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4317 |
View details |
c.669_686conAL078639.5:g.94544_94611 |
|
p.Lys223Asnfs*12 |
frameshift insertion or deletion |
TRD, TRD-NLS, C-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4318 |
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.326dupA |
g.153297709dupT |
p.Gln110fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
4347 |
View details |
c.420delG |
g.153296859delC |
p.Tyr141fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
4362 |
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.696delC |
g.153296583delG |
p.Lys233fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
4376 |
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.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 |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Known |
Female |
4445 |
View details |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Known |
Male |
4446 |
View details |
c.56dupA |
g.153297979dupT |
p.Leu21fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Known |
Female |
4470 |
View details |
c.689_756del68 |
g.153296523_153296590del68 |
p.Pro230fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
4478 |
View details |
c.752_753dupCC |
g.153296526_153296527dupGG |
p.Gly252fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
4480 |
View details |
c.834_939del106 |
g.153296340_153296445del106 |
p.Ala279fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Not Known |
Female |
4497 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4706 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4707 |
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.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.27-?_377+?del (exon 3 deletion) |
|
p.Arg9_Asn126delinsSer |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4777 |
View details |
c.27-?_377+?del (exon 3 deletion) |
|
p.Arg9_Asn126delinsSer |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4778 |
View details |
c.50dupA |
g.153297985dupT |
p.Asp17fs |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4789 |
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.[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.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4) |
|
p.Arg9? |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-congenital |
Female |
4827 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4850 |
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.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.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4915 |
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.318_321dup |
g.153297714_153297717dup |
p.Leu108fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4932 |
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.767_1175del409 |
g.153296104_153296512del409 |
p.Lys256Serfs*17 |
frameshift insertion or deletion |
TRD-NLS, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
5062 |
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.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
5064 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
5065 |
View details |
c.710dupG |
g.153296569dupC |
p.Gly238fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
5066 |
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 |
MECP2_e1: c.47_57del11 |
|
MeCP2_e1: p.G16Efs*22 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
5121 |
View details |
MECP2_e1: c.48_55del8 |
|
MeCP2_e1: p.E18Tfs*21 |
frameshift insertion or deletion |
N-term |
Mutation associated with disease
|
Not Rett synd. |
Female |
5122 |
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.[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.1168_1173del6 |
g.153296106_153296111del6 |
|
frameshift insertion or deletion |
C-term |
Unknown
|
Not Rett synd. |
Female |
6865 |
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.857_858dupAA |
g.153296421_153296422dupTT |
p.Ala287Lysfs*3 |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6748 |
View details |
c.820_823dupAGTG |
g.153296456_153296459dupCACT |
p.Val275Glufs*57 |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6747 |
View details |
c.806delG |
g.153296473delC |
p.Gly269Alafs*20 |
frameshift insertion or deletion |
NLS |
Mutation associated with disease
|
Rett syndrome-preserved speech |
Female |
6744 |
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.[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.753_754dup |
g.153296525_153296526dup |
p.Gly252fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6667 |
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.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.226delG |
g.153297809delC |
p.Glu76fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6641 |
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.229_238del10 |
g.153297797_153297806del10 |
p.Ala77fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6640 |
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.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.478dupA |
g.153296801dupT |
p.Thr160fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6637 |
View details |
c.390dupA |
g.153296889dupT |
p.Ala131fs |
frameshift insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6636 |
View details |
c.695dupG |
g.153296584dupC |
p.Lys233fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6635 |
View details |
c.842_843insT |
g.153296436_153296437insA |
p.Glu282fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6634 |
View details |
c.710dupG |
g.153296569dupC |
p.Gly238fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6633 |
View details |
c.710delG |
g.153296569delC |
p.Gly237fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6632 |
View details |
c.829delG |
g.153296450delC |
p.Ala277fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6631 |
View details |
c.856_859delAAAG |
g.153296420_153296423delCTTT |
p.Lys286fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6630 |
View details |
c.863_881del19 |
g.153296398_153296416del19 |
p.Val288fs |
frameshift insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6629 |
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.47_57dup11 |
|
MeCP2_e1: p.R20Afs*28 |
frameshift insertion or deletion |
exon 1 |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6624 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6610 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6609 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6608 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Rett synd. |
Male |
6607 |
View details |
c.806delG |
g.153296473delC |
p.Gly269fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6606 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6605 |
View details |
c.808delC |
g.153296471delG |
p.Arg270fs |
frameshift insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
6604 |
View details |
c.[806delG(;) *8C>T] |
g.[153296473delC;153295810G>A] |
p.Gly269fs |
frameshift insertion or deletion, 3'UTR variation |
TRD-NLS, 3'UTR |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
446 |
View details |
c.[276_277insG(;) 1162_1179del18] |
g.[153297758_153297759insC;153296100_153296117del18] |
p.[Pro94fs(;) Pro388_Pro393del] |
frameshift insertion or deletion, in-frame insertion or deletion |
MBD, C-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4713 |
View details |
c.[678delT];[378-109A>G;518C>G] |
|
p.[Gln227Lysfs*21];[Pro173Arg] |
frameshift insertion or deletion, intronic variation, missense |
TRD, intronic, inter-domain region |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
5238 |
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.[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.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.1165_1233del69ins21 |
|
p.Pro389_Pro411del23ins7 |
In-frame combined insertion and deletion |
C-term |
Unknown
|
Rett syndrome-Classical |
Female |
350 |
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.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.906_1138del233insAC |
g.153296141_153296373delinsGT |
p.Ile303_Val380delinsLeu |
in-frame combined insertion and deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3620 |
View details |
c.763_1383del621ins15 |
|
p.Arg255_Ile461delins5 |
in-frame combined insertion and deletion |
TRD, TRD-NLS, C-term |
Mutation associated with disease
|
Not Known |
Female |
4481 |
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.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.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 |
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.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.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.1403_1408del6 |
g.153295871_153295876del6 |
p.Arg468_Pro469del |
In-frame insertion or deletion |
C-term |
Unknown
|
Rett syndrome-Classical |
Female |
466 |
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.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.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.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.1061_1156del96 |
g.153296123_153296218del96 |
p.Arg352_Pro385del |
In-frame insertion or deletion |
C-term |
Unknown
|
Rett syndrome-Classical |
Female |
1196 |
View details |
c.635_655del21 |
g.153296624_153296644del21 |
p.Val212_Lys219delinsGlu |
In-frame insertion or deletion |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
1248 |
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.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.807_*125del780 |
g.153295693_153296472del780 |
p.Arg270_Ser486delinsGln |
In-frame insertion or deletion |
TRD-NLS |
Mutation associated with disease
|
Not Known |
Female |
1722 |
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.1115_1201del87 |
g.153296078_153296164del87 |
p.His372_Ser401delinsArg |
In-frame insertion or deletion |
C-term |
Unknown
|
Not Known |
Female |
1777 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1971 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1972 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1982 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1983 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1984 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1985 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1986 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1987 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1988 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1989 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1990 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1991 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1992 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Male |
1993 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1994 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1995 |
View details |
c.-168-?_*?dup |
|
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
1996 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
In-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Known |
Female |
2004 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
In-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2005 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
In-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2006 |
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.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 |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
In-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Rett syndrome-Atypical |
Female |
2162 |
View details |
MECP2_e1: c.21_23dup3 |
|
MeCP2_e1: p.A8dup |
In-frame insertion or deletion |
N-term |
Unknown
|
Not Known |
Female |
2163 |
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.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.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 |
MECP2_e1: c.15_23dup9 |
|
MeCP2_e1: p.A6_A8dup |
in-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
2554 |
View details |
MECP2_e1: c.15_23dup9 |
|
MeCP2_e1: p.A6_A8dup |
in-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
2555 |
View details |
MECP2_e1: c.18_23del6 |
|
MeCP2_e1: p.A7_A8del |
in-frame insertion or deletion |
N-term |
Unknown
|
Not Rett synd. |
Female |
2556 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2557 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2558 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2559 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2560 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2561 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2562 |
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 |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
3915 |
View details |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Rett syndrome-atypical |
Female |
2758 |
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.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 |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Rett syndrome-classical |
Female |
2912 |
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.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.822_1184del363 |
g.153296095_153296457del363 |
p.Val275_Ser396del |
in-frame insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3276 |
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.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.[641_653del13; 711_1309del599] |
g.[153296626_153296638del13;153295970_153296568del599] |
p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu |
in-frame insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3518 |
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 |
MECP2_e1: c.42_47dupAGGAGG |
|
MeCP2_e1: p.G15_G16dup |
in-frame insertion or deletion |
N-term |
Unknown
|
Rett syndrome-not certain |
Female |
3595 |
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 |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
3916 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
3917 |
View details |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
3987 |
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.295_297delACC |
g.153297738_153297740delGGT |
p.Thr99del |
in-frame insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4181 |
View details |
c.343_1282del |
g.153295997_153297692del |
p.Arg115_Glu394del |
in-frame insertion or deletion |
MBD, inter-domain, TRD, TRD-NLS, C-term |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
4306 |
View details |
c.900_908del |
g.153296371_153296379del |
p.Leu301_Ile303del |
in-frame insertion or deletion |
TRD |
Unknown
|
Rett syndrome-forme fruste |
Female |
4386 |
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.248-?_320+?del (exon 3 deletion) |
|
p.? |
in-frame insertion or deletion |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4806 |
View details |
c.[=/657-?_1316+?del] |
|
p.[=/?] |
in-frame insertion or deletion |
TRD |
Mutation associated with disease
|
Rett syndrome-male variant |
Male |
4807 |
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.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 |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
4822 |
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.1161_1166del6 |
g.153296113_153296118del6 |
p.Pro390_Pro391del |
in-frame insertion or deletion |
C-term |
Unknown
|
Not Rett synd. |
Female |
4855 |
View details |
c.409_1158del |
g.153296121_153296870del |
p.Glu137_Leu386del |
in-frame insertion or deletion |
MBD, inter-domain region, TRD, TRD-NLS, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
4866 |
View details |
c.871_1044del |
g.153296235_153296408del |
p.Ile293_Ser350del |
in-frame insertion or deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
4879 |
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.1155_1166del12 |
g.153296113_153296124del12 |
p.Leu386_Pro389del |
in-frame insertion or deletion |
C-term |
Unknown
|
Rett syndrome-atypical |
Female |
5059 |
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 |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Known |
Female |
5113 |
View details |
MECP2_e1: c.18_23dup |
|
MeCP2_e1: p.A7_A8dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
5114 |
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.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 |
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 |
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 |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
6345 |
View details |
MECP2_e1: c.45_47dupAGG |
|
MeCP2_e1: p.G16dup |
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Rett syndrome-classical |
Female |
6344 |
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.45_47dup |
g.153363076_153363078dup |
|
in-frame insertion or deletion |
N-term |
Polymorphism not causing disease
|
Not Known |
Male |
6899 |
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.[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.[881_1169del289; 1189_1196del8] |
g.[153296110_153296398del289;153296083_153296090del8] |
p.Arg294_Asp398delinsHisLeuSerProArgAla |
In-frame insertion or deletion, frameshift insertion or deletion |
TRD, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Unknown |
1528 |
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.[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.[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.[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.[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.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.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 |
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.27-2A>G |
g.153298010T>C |
intronic variation |
intronic variation |
N-term |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
2974 |
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.[378-61C>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 |
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.[378-74C>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.[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.[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.[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.[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 |
MECP2_e1: c.-7-?_62+?del |
|
MeCP2_e1: p.M1? |
large deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2759 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
large deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2760 |
View details |
c.-168-?_26+?del |
g.153357642_153363130del |
p.Met1? |
large deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2761 |
View details |
c.-168-?_*?del |
|
p.Met1? |
large deletion |
N-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2762 |
View details |
c.[27-?_377+?del(;)1085_1216del132] |
g.[153297658_153298008del;153296063_153296194del132] |
p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] |
large deletion, inframe insertion or deletion |
MBD, C-term |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3854 |
View details |
c.1-?dup |
g.153357667dup |
p.Met1? |
large duplication |
N-term |
Unknown
|
Rett syndrome-not certain |
Female |
3253 |
View details |
c.1-?_26+?dup |
g.153357642_153357667dup |
p.Met1? |
large duplication |
N-term |
Unknown
|
Rett syndrome-not certain |
Female |
3254 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
3 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
11 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
25 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
26 |
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.914A>G |
g.153296365T>C |
p.Lys305Arg |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
30 |
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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
73 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
74 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
75 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
76 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
77 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
78 |
View details |
c.965C>T |
g.153296314G>A |
p.Pro322Leu |
Missense |
C-term |
Unknown
|
Rett syndrome-Not certain |
Female |
79 |
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.904C>G |
g.153296375G>C |
p.Pro302Ala |
Missense |
TRD |
Unknown
|
Rett syndrome-Preserved speech |
Female |
120 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
121 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
133 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
136 |
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.602C>T |
g.153296677G>A |
p.Ala201Val |
Missense |
Inter-domain region |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Unknown |
141 |
View details |
c.905C>A |
g.153296374G>T |
p.Pro302His |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Unknown |
144 |
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.752C>T |
g.153296527G>A |
p.Pro251Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
149 |
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.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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Preserved speech |
Female |
168 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
169 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
170 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
171 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
172 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
194 |
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.608C>T |
g.153296671G>A |
p.Thr203Met |
Missense |
Inter-domain region |
Polymorphism not causing disease
|
Rett syndrome-atypical |
Female |
217 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
232 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
233 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
234 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
235 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
269 |
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.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
302 |
View details |
c.904C>G |
g.153296375G>C |
p.Pro302Ala |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
318 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
319 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
320 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
321 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
322 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
323 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
324 |
View details |
c.398G>T |
g.153296881C>A |
p.Arg133Leu |
Missense |
MBD |
Unknown
|
Rett syndrome-Classical |
Female |
329 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
335 |
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.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.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(;)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.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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
385 |
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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
409 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
411 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
413 |
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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
437 |
View details |
c.[473C>T];[1189G>A] |
|
p.[Thr158Met];[Glu397Lys] |
Missense |
MBD, C-term |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
438 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
439 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
452 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
459 |
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.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
467 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
469 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
476 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Not Rett synd. |
Female |
953 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
938 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
934 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
932 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
928 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
927 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Unknown |
913 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Unknown |
911 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Unknown |
912 |
View details |
c.905C>T |
g.153296374G>A |
p.Pro302Leu |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Unknown |
910 |
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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
862 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
861 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
860 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
859 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
858 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
857 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
856 |
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.686C>T |
g.153296593G>A |
p.Ser229Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Classical |
Female |
1011 |
View details |
c.410A>G |
g.153296869T>C |
p.Glu137Gly |
Missense |
MBD |
Mutation associated with disease
|
Not Rett synd. |
Male |
1012 |
View details |
c.499C>T |
g.153296780G>A |
p.Arg167Trp |
Missense |
Inter-domain region |
Unknown
|
Not Rett synd. |
Male |
1013 |
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.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.850A>G |
g.153296429T>C |
p.Lys284Glu |
Missense |
TRD |
Unknown
|
Not Rett synd. |
Male |
1018 |
View details |
c.1160C>T |
g.153296119G>A |
p.Pro387Leu |
Missense |
C-term |
Unknown
|
Not Rett synd. |
Male |
1022 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1054 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1055 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1056 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1057 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1058 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1059 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1060 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1061 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1062 |
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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Female |
1129 |
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.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.859G>C |
g.153296420C>G |
p.Ala287Pro |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
1140 |
View details |
c.871T>G |
g.153296408A>C |
p.Ser291Ala |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
1141 |
View details |
c.914A>G |
g.153296365T>C |
p.Lys305Arg |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
1142 |
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.316C>T |
g.153297719G>A |
p.Arg106Trp |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1145 |
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.302C>G |
g.153297733G>C |
p.Pro101Arg |
Missense |
MBD |
Unknown
|
Not Rett synd. |
Female |
1152 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1171 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Preserved speech |
Female |
1178 |
View details |
c.[=/398G>A] |
|
p.[=/Arg133His] |
Missense |
MBD |
Unknown
|
Rett syndrome-Male variant |
Male |
1182 |
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.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1197 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1209 |
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.686C>T |
g.153296593G>A |
p.Ser229Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1222 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1231 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1232 |
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.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1249 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1250 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1251 |
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.629A>T |
g.153296650T>A |
p.Lys210Ile |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Unknown |
1301 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1302 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1303 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1304 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1305 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Unknown |
1306 |
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.316C>T |
g.153297719G>A |
p.Arg106Trp |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1376 |
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.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Male |
1387 |
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.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.898G>A |
g.153296381C>T |
p.Val300Ile |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
1400 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1401 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1402 |
View details |
c.964C>G |
g.153296315G>C |
p.Pro322Ala |
Missense |
C-term |
Unknown
|
Rett syndrome-Classical |
Female |
1403 |
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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1454 |
View details |
c.401C>G |
g.153296878G>C |
p.Ser134Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
1460 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1483 |
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.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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Unknown |
1520 |
View details |
c.468C>G |
g.153296811G>C |
p.Asp156Glu |
Missense |
MBD |
Unknown
|
Rett syndrome-classical |
Unknown |
1522 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Unknown |
1523 |
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.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.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.608C>T |
g.153296671G>A |
p.Thr203Met |
Missense |
Inter-domain region |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1547 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1554 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Rett synd. |
Female |
1555 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Not Rett synd. |
Female |
1556 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1558 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1559 |
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.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.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.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 |
MECP2_e1: c.5C>T |
|
MeCP2_e1: p.A2V |
missense |
N-term |
Unknown
|
Rett syndrome-classical |
Female |
3864 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1609 |
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.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 |
MECP2_e1: c.1A>T |
|
MeCP2_e1: p.M1? |
missense |
N-term |
Unknown
|
Rett syndrome-classical |
Female |
3865 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1617 |
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.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1630 |
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.683C>G |
g.153296596G>C |
p.Thr228Ser |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Female |
1632 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1634 |
View details |
c.905C>T |
g.153296374G>A |
p.Pro302Leu |
Missense |
TRD |
Unknown
|
Rett syndrome-Not certain |
Female |
1636 |
View details |
c.1441G>A |
g.153295838C>T |
p.Val481Met |
Missense |
C-term |
Unknown
|
Rett syndrome-Not certain |
Female |
1637 |
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.1340C>T |
g.153295939G>A |
p.Ala447Val |
Missense |
C-term |
Unknown
|
Rett syndrome-Not certain |
Female |
1650 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1651 |
View details |
c.815C>T |
g.153296464G>A |
p.Pro272Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Female |
1652 |
View details |
c.815C>T |
g.153296464G>A |
p.Pro272Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1653 |
View details |
c.815C>T |
g.153296464G>A |
p.Pro272Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
1654 |
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.674C>T |
g.153296605G>A |
p.Pro225Leu |
Missense |
TRD |
Unknown
|
Rett syndrome-Male variant |
Male |
1659 |
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.905C>T |
g.153296374G>A |
p.Pro302Leu |
Missense |
TRD |
Unknown
|
Not Known |
Female |
1686 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1706 |
View details |
c.953A>C |
g.153296326T>G |
p.Glu318Ala |
Missense |
C-term |
Unknown
|
Rett syndrome-classical |
Female |
1707 |
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.1126C>T |
g.153296153G>A |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Female |
1724 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1748 |
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.1126C>T |
g.153296153G>A |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Female |
1757 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
1764 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1765 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1773 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1778 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1789 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
1807 |
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.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1827 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1832 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1833 |
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.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1836 |
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.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.749G>A |
g.153296530C>T |
p.Arg250His |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Female |
1852 |
View details |
c.749G>A |
g.153296530C>T |
p.Arg250His |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1853 |
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.932C>T |
g.153296347G>A |
p.Thr311Met |
Missense |
C-term |
Unknown
|
Rett syndrome-Not certain |
Female |
1858 |
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.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.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.881G>C |
g.153296398C>G |
p.Arg294Pro |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Not certain |
Female |
1903 |
View details |
c.881G>C |
g.153296398C>G |
p.Arg294Pro |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1904 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1905 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
1906 |
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.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.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1929 |
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.953A>C |
g.153296326T>G |
p.Glu318Ala |
Missense |
C-term |
Unknown
|
Rett syndrome-atypical |
Female |
1945 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1959 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
1961 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-atypical |
Female |
1964 |
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.602C>T |
g.153296677G>A |
p.Ala201Val |
Missense |
Inter-domain region |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
1973 |
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.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.1061G>T |
g.153296218C>A |
p.Arg354Leu |
Missense |
C-term |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2003 |
View details |
c.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Male |
2009 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2011 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
2013 |
View details |
c.910A>G |
g.153296369T>C |
p.Lys304Glu |
Missense |
TRD |
Unknown
|
Not Known |
Female |
2015 |
View details |
c.1324A>G |
g.153295955T>C |
p.Thr442Ala |
Missense |
C-term |
Unknown
|
Not Known |
Female |
2016 |
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(;)1061G>T] |
g.[153296882G>A;153296218C>A] |
p.[Arg133Cys(;)Arg354Leu] |
Missense |
MBD, C-term |
Mutation associated with disease
|
Not Known |
Female |
2025 |
View details |
c.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Female |
2026 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
2028 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2032 |
View details |
c.317G>A |
g.153297718C>T |
p.Arg106Gln |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
2033 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2035 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
2038 |
View details |
c.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Female |
2039 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2040 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
Missense |
MBD |
Mutation associated with disease
|
Not Known |
Female |
2046 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2054 |
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.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.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.815C>T |
g.153296464G>A |
p.Pro272Leu |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Atypical |
Female |
2127 |
View details |
c.1189G>A |
g.153296090C>T |
p.Glu397Lys |
Missense |
C-term |
Polymorphism not causing disease
|
Not Known |
Female |
2130 |
View details |
c.633G>C |
g.153296646C>G |
p.Arg211Ser |
Missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Classical |
Female |
2134 |
View details |
c.633G>C |
g.153296646C>G |
p.Arg211Ser |
Missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2135 |
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.215C>T |
g.153297820G>A |
p.Pro72Leu |
Missense |
N-term |
Unknown
|
Not Known |
Male |
2139 |
View details |
c.155A>G |
g.153297880T>C |
p.His52Arg |
Missense |
N-term |
Unknown
|
Not Rett synd. |
Female |
2141 |
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.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.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.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.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2173 |
View details |
c.905C>T |
g.153296374G>A |
p.Pro302Leu |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
2174 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2175 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2176 |
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.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.[316C>T(;)917G>T(;)1061G>A] |
g.[153297719G>A;153296362C>A;153296218C>T] |
p.[Arg106Trp(;)Arg306Leu(;)Arg354His] |
Missense |
MBD, TRD, C-term |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2206 |
View details |
c.1061G>A |
g.153296218C>T |
p.Arg354His |
Missense |
C-term |
Unknown
|
Not Rett synd. |
Female |
2207 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2320 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2321 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2322 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2323 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2324 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2325 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2326 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2327 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2328 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Not certain |
Female |
2329 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Atypical |
Female |
2330 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2331 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2332 |
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.587C>G |
g.153296692G>C |
p.Thr196Ser |
Missense |
Inter-domain region |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2368 |
View details |
c.1127C>G |
g.153296152G>C |
p.Pro376Arg |
Missense |
C-term |
Unknown
|
Not Rett synd. |
Female |
2369 |
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.[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.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2399 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2400 |
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.914A>G |
g.153296365T>C |
p.Lys305Arg |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
2408 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2409 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2411 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Preserved speech |
Female |
2413 |
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.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.965C>T |
g.153296314G>A |
p.Pro322Leu |
Missense |
C-term |
Unknown
|
Rett syndrome-Classical |
Female |
2424 |
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.674C>T |
g.153296605G>A |
p.Pro225Leu |
Missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
2429 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2430 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2432 |
View details |
c.317G>A |
g.153297718C>T |
p.Arg106Gln |
Missense |
MBD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2436 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2437 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2450 |
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.905C>G |
g.153296374G>C |
p.Pro302Arg |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2466 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2467 |
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.1163C>T |
g.153296116G>A |
p.Pro388Leu |
Missense |
C-term |
Unknown
|
Rett syndrome-Forme fruste |
Female |
2476 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2488 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
Missense |
TRD |
Mutation associated with disease
|
Not Known |
Female |
2489 |
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.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.422A>G |
g.153296857T>C |
p.Tyr141Cys |
Missense |
MBD |
Unknown
|
Rett syndrome-Atypical |
Female |
2519 |
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.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.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 |
MECP2_e1: c.49G>A |
|
MeCP2_e1: p.E17K |
missense |
N-term |
Unknown
|
Not Rett synd. |
Female |
2563 |
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.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.674C>G |
g.153296605G>C |
p.Pro225Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2597 |
View details |
c.904C>T |
g.153296375G>A |
p.Pro302Ser |
missense |
TRD |
Unknown
|
Rett syndrome-Classical |
Female |
2615 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2616 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2617 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2618 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2619 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-Classical |
Female |
2620 |
View details |
c.1162C>T |
g.153296117G>A |
p.Pro388Ser |
missense |
c-term |
Unknown
|
Rett syndrome-Classical |
Female |
2626 |
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.686C>T |
g.153296593G>A |
p.Ser229Leu |
missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Classical |
Female |
2633 |
View details |
c.815C>T |
g.153296464G>A |
p.Pro272Leu |
missense |
TRD |
Polymorphism not causing disease
|
Rett syndrome-Classical |
Female |
2634 |
View details |
c.289G>T |
g.153297746C>A |
p.Asp97Tyr |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
2646 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
2648 |
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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
missense |
C-term |
Polymorphism not causing disease
|
Not Rett synd. |
Unknown |
2656 |
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.679C>G |
g.153296600G>C |
p.Gln227Glu |
missense |
TRD |
Unknown
|
Not Rett synd. |
Female |
2660 |
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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
missense |
C-term |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2667 |
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.245A>G |
g.153297790T>C |
p.Lys82Arg |
missense |
MBD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2673 |
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.683C>G |
g.153296596G>C |
p.Thr228Ser |
missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2752 |
View details |
c.1214C>T |
g.153296065G>A |
p.Pro405Leu |
missense |
C-term |
Unknown
|
Not Rett synd. |
Male |
2763 |
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.815C>T |
g.153296464G>A |
p.Pro272Leu |
missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
2768 |
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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
missense |
C-term |
Polymorphism not causing disease
|
Not Rett synd. |
Female |
2774 |
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.469T>A |
g.153296810A>T |
p.Phe157Ile |
missense |
MBD |
Unknown
|
Not Rett synd. |
Male |
2795 |
View details |
c.1250A>T |
g.153296029T>A |
p.Lys417Met |
missense |
C-term |
Unknown
|
Not Rett synd. |
Male |
2796 |
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.602C>T |
g.153296677G>A |
p.Ala201Val |
missense |
inter-domain region |
Polymorphism not causing disease
|
Rett syndrome-classical |
Female |
2813 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2815 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2816 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2852 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2853 |
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.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.36G>C |
g.153297999C>G |
p.Lys12Asn |
missense |
N-term |
Polymorphism not causing disease
|
Rett syndrome-not certain |
Female |
2865 |
View details |
c.28G>C |
g.153298007C>G |
p.Glu10Gln |
missense |
N-term |
Unknown
|
Rett syndrome-forme fruste |
Female |
2866 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-forme fruste |
Female |
2875 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2876 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2877 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2878 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2902 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2903 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2945 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2946 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
2947 |
View details |
c.964C>G |
g.153296315G>C |
p.Pro322Ala |
missense |
C-term |
Unknown
|
Rett syndrome-classical |
Female |
2948 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Not Rett synd. |
Female |
2976 |
View details |
c.909C>G |
g.153296370G>C |
p.Ile303Met |
missense |
TRD |
Unknown
|
Not Rett synd. |
Female |
2977 |
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.836C>T |
g.153296443G>A |
p.Ala279Val |
missense |
TRD |
Unknown
|
Rett syndrome-classical |
Female |
2990 |
View details |
c.836C>T |
g.153296443G>A |
p.Ala279Val |
missense |
TRD |
Unknown
|
Rett syndrome-classical |
Female |
2991 |
View details |
c.836C>T |
g.153296443G>A |
p.Ala279Val |
missense |
TRD |
Unknown
|
Rett syndrome-classical |
Female |
2992 |
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.674C>G |
g.153296605G>C |
p.Pro225Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3000 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3001 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3002 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3014 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3015 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3018 |
View details |
c.686C>T |
g.153296593G>A |
p.Ser229Leu |
missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
3025 |
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.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.683C>G |
g.153296596G>C |
p.Thr228Ser |
missense |
TRD |
Polymorphism not causing disease
|
Not Rett synd. |
Male |
3032 |
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.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.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.1189G>A |
g.153296090C>T |
p.Glu397Lys |
missense |
C-term |
Polymorphism not causing disease
|
Rett syndrome-not certain |
Female |
3077 |
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.904C>G |
g.153296375G>C |
p.Pro302Ala |
missense |
TRD |
Unknown
|
Rett syndrome-not certain |
Female |
3080 |
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.[=/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.674C>G |
g.153296605G>C |
p.Pro225Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3138 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3139 |
View details |
c.904C>G |
g.153296375G>C |
p.Pro302Ala |
missense |
TRD |
Unknown
|
Rett syndrome-not certain |
Female |
3140 |
View details |
c.908T>G |
g.153296371A>C |
p.Ile303Ser |
missense |
TRD |
Unknown
|
Rett syndrome-not certain |
Female |
3141 |
View details |
c.910A>G |
g.153296369T>C |
p.Lys304Glu |
missense |
TRD |
Unknown
|
Rett syndrome-not certain |
Female |
3142 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3143 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3144 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3145 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3146 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3147 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3148 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3149 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3150 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3151 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3152 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3153 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3154 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3155 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3156 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3157 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3158 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3159 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3160 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3161 |
View details |
c.917G>A |
g.153296362C>T |
p.Arg306His |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3162 |
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.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3361 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3362 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-forme fruste |
Female |
3366 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3374 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3375 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-forme fruste |
Female |
3376 |
View details |
c.905C>T |
g.153296374G>A |
p.Pro302Leu |
missense |
TRD |
Unknown
|
Rett syndrome-classical |
Female |
3381 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3382 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3384 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3385 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3386 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3387 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3388 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-preserved speech |
Female |
3389 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3390 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3391 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3392 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-preserved speech |
Female |
3393 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-preserved speech |
Female |
3394 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3395 |
View details |
c.372G>C |
g.153297663C>G |
p.Leu124Phe |
missense |
MBD |
Unknown
|
Rett syndrome-classical |
Female |
3396 |
View details |
c.401C>G |
g.153296878G>C |
p.Ser134Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3397 |
View details |
c.905C>G |
g.153296374G>C |
p.Pro302Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3398 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-classical |
Female |
3399 |
View details |
c.317G>A |
g.153297718C>T |
p.Arg106Gln |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3418 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3419 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3420 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3421 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3422 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3423 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3424 |
View details |
c.316C>G |
g.153297719G>C |
p.Arg106Gly |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3425 |
View details |
c.380C>T |
g.153296899G>A |
p.Pro127Leu |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3426 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3427 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3428 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3429 |
View details |
c.397C>T |
g.153296882G>A |
p.Arg133Cys |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3430 |
View details |
c.397C>G |
g.153296882G>C |
p.Arg133Gly |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3431 |
View details |
c.398G>A |
g.153296881C>T |
p.Arg133His |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3432 |
View details |
c.403A>G |
g.153296876T>C |
p.Lys135Glu |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3433 |
View details |
c.452A>G |
g.153296827T>C |
p.Asp151Gly |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3434 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3435 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3436 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3437 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3438 |
View details |
c.455C>G |
g.153296824G>C |
p.Pro152Arg |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3439 |
View details |
c.468C>G |
g.153296811G>C |
p.Asp156Glu |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3440 |
View details |
c.468C>G |
g.153296811G>C |
p.Asp156Glu |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3441 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3442 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3443 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3444 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3445 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3446 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3447 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3448 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3449 |
View details |
c.473C>T |
g.153296806G>A |
p.Thr158Met |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3450 |
View details |
c.674C>G |
g.153296605G>C |
p.Pro225Arg |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3451 |
View details |
c.905C>T |
g.153296374G>A |
p.Pro302Leu |
missense |
TRD |
Unknown
|
Rett syndrome-not certain |
Female |
3452 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3453 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3454 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3455 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3456 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3457 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3458 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3459 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3460 |
View details |
c.916C>T |
g.153296363G>A |
p.Arg306Cys |
missense |
TRD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3461 |
View details |
c.310T>C |
g.153297725A>G |
p.Trp104Arg |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3514 |
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.1075T>C |
g.153296204A>G |
p.Ser359Pro |
missense |
C-term |
Polymorphism not causing disease
|
Rett syndrome-not certain |
Female |
3517 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3523 |
View details |
c.316C>T |
g.153297719G>A |
p.Arg106Trp |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3524 |
View details |
c.317G>A |
g.153297718C>T |
p.Arg106Gln |
missense |
MBD |
Mutation associated with disease
|
Rett syndrome-not certain |
Female |
3525 |
View details |
c.364G>A |
g.153297671C>T |
p.Val122Met |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |
Female |
3526 |
View details |
c.[380C>T];[380C>T] |
|
p.[Pro127Leu];[Pro127Leu] |
missense |
MBD |
Unknown
|
Rett syndrome-not certain |