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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 MECP2 P51608 p.Glu10Gln rs61754421 Rett syndrome (RTT) [MIM:312750]
Detail
0.56 (T)
0.959 (D)
N
2 MECP2 P51608 p.Lys12Asn rs61754422 variant of unknown significance
Detail
0.16 (T)
0.722 (D)
N
3 MECP2 P51608 p.His52Arg rs61754433 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
4 MECP2 P51608 p.Gly67Val rs150900180 variant of unknown significance
Detail
0.37 (T)
0.509 (D)
N
5 MECP2 P51608 p.Pro72Leu rs61754440 variant of unknown significance
1ub1
A
Detail
0.39 (T)
0.005 (N)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Lys82Arg rs61754444 variant of unknown significance
1ub1
A
Detail
0.17 (T)
0.719 (D)
N
4 MECP2 P51608 p.Ser86Cys rs61754445 variant of unknown significance
1ub1
A
Detail
0.02 (D)
0.992 (D)
N
5 MECP2 P51608 p.Pro93Ser rs61754447 variant of unknown significance
1ub1
A
Detail
0.18 (T)
0.986 (D)
N
6 MECP2 P51608 p.Asp97Tyr rs61754448 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Asp97Glu rs61754449 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
1.00 (T)
0.956 (D)
N
4 MECP2 P51608 p.Leu100Val rs28935168 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.15 (T)
0.972 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Leu100Arg rs61754451 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Pro101Arg rs61754453 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 MECP2 P51608 p.Pro101Leu rs61754453 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 MECP2 P51608 p.Pro101Ser rs61754452 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Pro101Thr - Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.997 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Pro101His rs61754453 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Arg106Trp rs28934907 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Arg106Gly rs28934907 RETT SYNDROME [MIM:300005#0008]
1ub1
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Arg106Leu rs61754457 variant of unknown significance
1ub1
A
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Arg106Gln rs61754457 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Leu108His rs61754458 variant of unknown significance
1ub1
A
Detail
0.01 (D)
0.996 (D)
N
5 MECP2 P51608 p.Arg111Gly rs61754459 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Gly114Ala rs61755760 variant of unknown significance
1ub1
A
Detail
0.00 (D)
0.998 (D)
N
4 MECP2 P51608 p.Tyr120Asp - Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.01 (D)
0.952 (D)
N
5 MECP2 P51608 p.Asp121Gly rs61755762 variant of unknown significance
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Leu124Phe rs61755763 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.59 (T)
0.995 (D)
N
5 MECP2 P51608 p.Gln128Pro rs61748383 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.03 (D)
0.576 (D)
N
6 MECP2 P51608 p.Gly129Val rs61748384 variant of unknown significance
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Arg133Ser rs28934904 RETT SYNDROME, ZAPPELLA VARIANT [MIM:300005#0001]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Arg133Leu rs61748389 variant of unknown significance
1ub1
A
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Arg133Gly rs28934904 RETT SYNDROME, ZAPPELLA VARIANT [MIM:300005#0001]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 MECP2 P51608 p.Arg133His rs61748389 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Arg133Cys rs28934904 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 MECP2 P51608 p.Ser134Phe rs61748390 variant of unknown significance
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Ser134Cys rs61748390 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Lys135Glu rs61748391 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.01 (D)
0.781 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Lys135Ter rs61748391 variant of unknown significance
Detail
(-)
(-)
N
4 MECP2 P51608 p.Lys135Gln rs61748391 variant of unknown significance
1ub1
A
Detail
0.02 (D)
0.801 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Glu137Gly rs61748392 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
1ub1
A
Detail
0.03 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Ala140Val rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
1ub1
A
Detail
0.48 (T)
0.953 (D)
N
4 MECP2 P51608 p.Tyr141Cys rs61748395 variant of unknown significance
1ub1
A
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Asp147Asn rs61748401 variant of unknown significance
1ub1
A
Detail
0.03 (D)
0.945 (D)
N
4 MECP2 P51608 p.Asp151Gly rs61748403 variant of unknown significance
1ub1
A
Detail
0.15 (T)
0.627 (D)
N
5 MECP2 P51608 p.Pro152Leu rs61748404 variant of unknown significance
1ub1
A
Detail
1.00 (T)
0.393 (N)
D ( Predicted by rules : 1 2 3 4 )
6 MECP2 P51608 p.Pro152Ala rs179363900 variant of unknown significance
1ub1
A
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Pro152Arg rs61748404 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.03 (D)
0.993 (D)
D ( Predicted by rules : 1 2 3 4 )
6 MECP2 P51608 p.Phe155Cys rs28934905 RETT SYNDROME [MIM:300005#0002]
1ub1
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Phe155Ile rs61748406 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.01 (D)
0.997 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Phe155Ser rs28934905 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Asp156Glu rs61748408 variant of unknown significance
1ub1
A
Detail
0.02 (D)
0.951 (D)
N
5 MECP2 P51608 p.Asp156Gly rs61748407 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.02 (D)
0.996 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Phe157Ile rs61748410 variant of unknown significance
1ub1
A
Detail
0.01 (D)
0.997 (D)
N
5 MECP2 P51608 p.Thr158Met rs28934906 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 MECP2 P51608 p.Thr158Lys rs28934906 RETT SYNDROME [MIM:300005#0007]
1ub1
A
Detail
0.09 (T)
0.998 (D)
N
5 MECP2 P51608 p.Thr158Ala rs61748411 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.18 (T)
0.846 (D)
N
6 MECP2 P51608 p.Thr158Arg rs28934906 RETT SYNDROME [MIM:300005#0007]
1ub1
A
Detail
0.15 (T)
1 (D)
N
7 MECP2 P51608 p.Thr160Ser rs61748414 variant of unknown significance
1ub1
A
Detail
0.92 (T)
0.384 (N)
N
8 MECP2 P51608 p.Gly161Glu rs61748417 variant of unknown significance
1ub1
A
Detail
(-)
(-)
N
9 MECP2 P51608 p.Gly161Trp rs61748416 variant of unknown significance
1ub1
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Gly161Val rs61748417 Rett syndrome (RTT) [MIM:312750]
1ub1
A
Detail
0.12 (T)
1 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Arg167Trp rs61748420 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
1ub1
A
Detail
0.02 (D)
1 (D)
N
4 MECP2 P51608 p.Arg168Gly rs61748421 RETT SYNDROME [MIM:300005#0020]
1ub1
A
Detail
0.31 (T)
0.949 (D)
N
5 MECP2 P51608 p.Arg168Ter rs61748421 RETT SYNDROME [MIM:300005#0020]
Detail
(-)
(-)
N
6 MECP2 P51608 p.Pro172Ser rs61748426 variant of unknown significance
1ub1
A
Detail
0.65 (T)
0.571 (D)
N
7 MECP2 P51608 p.Pro173Ala rs61748427 variant of unknown significance
1ub1
A
Detail
0.48 (T)
0.914 (D)
N
8 MECP2 P51608 p.Pro176Arg rs61749701 variant of unknown significance
1ub1
A
Detail
0.72 (T)
0.961 (D)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Pro176Ser rs186663314 variant of unknown significance
1ub1
A
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 MECP2 P51608 p.Ala181Val rs61749705 variant of unknown significance
1ub1
A
Detail
0.24 (T)
0.497 (N)
N
4 MECP2 P51608 p.Gly183Arg rs61749706 variant of unknown significance
1ub1
A
Detail
0.35 (T)
0.986 (D)
N
5 MECP2 P51608 p.Thr196Ser rs61749713 variant of unknown significance
Detail
0.94 (T)
0.258 (N)
N
6 MECP2 P51608 p.Thr197Met rs61749714 variant of unknown significance
Detail
0.16 (T)
0.003 (N)
N
7 MECP2 P51608 p.Ala201Val rs61748381 variant of unknown significance
Detail
0.26 (T)
0.003 (N)
N
8 MECP2 P51608 p.Thr203Met rs61749720 variant of unknown significance
Detail
0.12 (T)
0.735 (D)
N
9 MECP2 P51608 p.Lys210Ile rs61749730 Rett syndrome (RTT) [MIM:312750]
Detail
0.04 (D)
0.995 (D)
N
10 MECP2 P51608 p.Arg211Ser rs61749731 variant of unknown significance
Detail
0.08 (T)
0.98 (D)
N
11 MECP2 P51608 p.Pro225Leu rs61749715 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
Detail
0.05 (T)
0.999 (D)
N
12 MECP2 P51608 p.Pro225Arg rs61749715 Rett syndrome (RTT) [MIM:312750]
Detail
0.12 (T)
0.999 (D)
N
13 MECP2 P51608 p.Gln227Glu rs61749737 variant of unknown significance
Detail
1.00 (T)
0.006 (N)
N
14 MECP2 P51608 p.Thr228Ser rs61749738 variant of unknown significance
Detail
0.74 (T)
0.001 (N)
N
15 MECP2 P51608 p.Ser229Ter rs61749739 variant of unknown significance
Detail
(-)
(-)
N
16 MECP2 P51608 p.Ser229Trp rs61749739 variant of unknown significance
Detail
0.02 (D)
0.998 (D)
N
17 MECP2 P51608 p.Ser229Leu rs61749739 variant of unknown significance
Detail
0.29 (T)
0.662 (D)
N
18 MECP2 P51608 p.Gly232Ala rs61748422 variant of unknown significance
Detail
0.73 (T)
0.99 (D)
N
19 MECP2 P51608 p.Ala234Gly rs138211345 variant of unknown significance
Detail
0.21 (T)
0.797 (D)
N
20 MECP2 P51608 p.Arg250His rs61750227 variant of unknown significance
Detail
0.02 (D)
0.999 (D)
N
21 MECP2 P51608 p.Arg250Cys rs141382970 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
22 MECP2 P51608 p.Pro251Leu rs61750229 variant of unknown significance
Detail
0.27 (T)
0.959 (D)
N
23 MECP2 P51608 p.Arg255Gly rs61749721 RETT SYNDROME [MIM:300005#0021]
Detail
0.37 (T)
0.996 (D)
N
24 MECP2 P51608 p.Arg255Ter rs61749721 RETT SYNDROME [MIM:300005#0021]
Detail
(-)
(-)
N
25 MECP2 P51608 p.Arg268Trp rs61750239 variant of unknown significance
Detail
0.02 (D)
1 (D)
N
26 MECP2 P51608 p.Arg270Gly rs61750240 RETT SYNDROME [MIM:300005#0005]
Detail
0.22 (T)
0.996 (D)
N
27 MECP2 P51608 p.Arg270Ter rs61750240 RETT SYNDROME [MIM:300005#0005]
Detail
(-)
(-)
N
28 MECP2 P51608 p.Pro272Gln rs61750243 variant of unknown significance
Detail
0.14 (T)
0.999 (D)
N
29 MECP2 P51608 p.Pro272Leu rs61750243 variant of unknown significance
Detail
0.14 (T)
0.999 (D)
N
30 MECP2 P51608 p.Pro272Arg rs61750243 variant of unknown significance
Detail
0.32 (T)
0.999 (D)
N
31 MECP2 P51608 p.Val275Ala rs143989769 variant of unknown significance
Detail
1.00 (T)
0.046 (N)
N
32 MECP2 P51608 p.Ala279Val rs61750249 variant of unknown significance
Detail
0.28 (T)
0.893 (D)
N
33 MECP2 P51608 p.Lys284Glu rs61750255 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
Detail
0.31 (T)
0.971 (D)
N
34 MECP2 P51608 p.Ala287Pro rs61750257 variant of unknown significance
Detail
0.03 (D)
0.998 (D)
N
35 MECP2 P51608 p.Ser291Ala rs61751360 variant of unknown significance
Detail
0.55 (T)
0.865 (D)
N
36 MECP2 P51608 p.Arg294Ter rs61751362 RETT SYNDROME [MIM:300005#0011]
Detail
(-)
(-)
N
37 MECP2 P51608 p.Arg294Gly rs61751362 RETT SYNDROME [MIM:300005#0011]
Detail
0.25 (T)
0.916 (D)
N
38 MECP2 P51608 p.Arg294Pro rs61751366 variant of unknown significance
Detail
0.34 (T)
0.969 (D)
N
39 MECP2 P51608 p.Val300Ile rs61751370 variant of unknown significance
Detail
0.27 (T)
0.891 (D)
N
40 MECP2 P51608 p.Pro302Thr rs61751373 variant of unknown significance
Detail
0.34 (T)
0.998 (D)
N
41 MECP2 P51608 p.Pro302Ala rs61751373 Rett syndrome (RTT) [MIM:312750]
Detail
0.23 (T)
0.995 (D)
N
42 MECP2 P51608 p.Pro302Arg rs61749723 Rett syndrome (RTT) [MIM:312750]
Detail
0.43 (T)
0.999 (D)
N
43 MECP2 P51608 p.Pro302Leu rs61749723 Rett syndrome (RTT) [MIM:312750]
Detail
0.11 (T)
0.999 (D)
N
44 MECP2 P51608 p.Pro302Ser rs61751373 variant of unknown significance
Detail
0.18 (T)
0.998 (D)
N
45 MECP2 P51608 p.Pro302His rs61749723 Rett syndrome (RTT) [MIM:312750]
Detail
0.04 (D)
1 (D)
N
46 MECP2 P51608 p.Ile303Met rs61751439 variant of unknown significance
Detail
0.13 (T)
0.991 (D)
N
47 MECP2 P51608 p.Lys304Glu rs61751440 variant of unknown significance
Detail
1.00 (T)
0.971 (D)
N
48 MECP2 P51608 p.Lys305Arg rs61751441 Rett syndrome (RTT) [MIM:312750]
Detail
0.15 (T)
0.971 (D)
N
49 MECP2 P51608 p.Arg306Ser rs28935468 RETT SYNDROME [MIM:300005#0016]
Detail
0.74 (T)
0.996 (D)
N
50 MECP2 P51608 p.Arg306Leu rs61751443 variant of unknown significance
Detail
(-)
(-)
N
51 MECP2 P51608 p.Arg306Gly rs28935468 RETT SYNDROME [MIM:300005#0016]
Detail
0.38 (T)
0.996 (D)
N
52 MECP2 P51608 p.Arg306Cys rs28935468 Rett syndrome (RTT) [MIM:312750]
Detail
0.05 (T)
1 (D)
N
53 MECP2 P51608 p.Arg306His rs61751443 Rett syndrome (RTT) [MIM:312750]
Detail
0.12 (T)
0.999 (D)
N
54 MECP2 P51608 p.Arg309Trp rs61751444 variant of unknown significance
Detail
0.03 (D)
1 (D)
N
55 MECP2 P51608 p.Thr311Met rs61751445 variant of unknown significance
Detail
0.06 (T)
0.997 (D)
N
56 MECP2 P51608 p.Glu318Ala rs61751448 variant of unknown significance
Detail
0.08 (T)
0.875 (D)
N
57 MECP2 P51608 p.Pro322Ala rs61751449 Rett syndrome (RTT) [MIM:312750]
Detail
0.82 (T)
0.994 (D)
N
58 MECP2 P51608 p.Pro322Ser rs61751449 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
Detail
0.81 (T)
0.997 (D)
N
59 MECP2 P51608 p.Pro322Leu rs61751450 Rett syndrome (RTT) [MIM:312750]
Detail
0.34 (T)
0.999 (D)
N
60 MECP2 P51608 p.Arg344Trp rs61752361 Rett syndrome (RTT) [MIM:312750]
Detail
0.01 (D)
(N)
N
61 MECP2 P51608 p.Ser346Arg rs61752365 variant of unknown significance
Detail
0.46 (T)
(N)
N
62 MECP2 P51608 p.Arg354Cys rs143876280 variant of unknown significance
Detail
0.05 (T)
(N)
N
63 MECP2 P51608 p.Arg354His rs61748387 variant of unknown significance
Detail
0.12 (T)
(N)
N
64 MECP2 P51608 p.Arg354Leu rs61748387 variant of unknown significance
Detail
0.30 (T)
(N)
N
65 MECP2 P51608 p.Ser359Pro rs61752371 variant of unknown significance
Detail
0.28 (T)
(N)
N
66 MECP2 P51608 p.Pro361Ala rs61752373 variant of unknown significance
Detail
0.52 (T)
(N)
N
67 MECP2 P51608 p.Pro376Arg rs61752976 variant of unknown significance
Detail
0.21 (T)
(N)
N
68 MECP2 P51608 p.Pro376Ser rs61752387 variant of unknown significance
Detail
0.97 (T)
(N)
N
69 MECP2 P51608 p.Pro381Ala rs61752981 variant of unknown significance
Detail
0.80 (T)
(N)
N
70 MECP2 P51608 p.Pro385Leu rs111302745 variant of unknown significance
Detail
0.28 (T)
(N)
N
71 MECP2 P51608 p.Pro388Ala rs61753000 variant of unknown significance
Detail
0.70 (T)
(N)
N
72 MECP2 P51608 p.Pro388Thr rs61753000 variant of unknown significance
Detail
0.50 (T)
(N)
N
73 MECP2 P51608 p.Pro388Leu rs61753006 variant of unknown significance
Detail
0.27 (T)
(N)
N
74 MECP2 P51608 p.Pro388Ser rs61753000 variant of unknown significance
Detail
0.70 (T)
(N)
N
75 MECP2 P51608 p.Glu394Lys - variant of unknown significance
Detail
0.91 (T)
(N)
N
76 MECP2 P51608 p.Glu397Lys rs56268439 variant of unknown significance
Detail
1.00 (T)
(N)
N
77 MECP2 P51608 p.Glu397Ter rs56268439 variant of unknown significance
Detail
(-)
(-)
N
78 MECP2 P51608 p.Glu397Gln rs56268439 variant of unknown significance
Detail
0.52 (T)
(N)
N
79 MECP2 P51608 p.Pro399Leu - Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
Detail
0.34 (T)
(N)
N
80 MECP2 P51608 p.Pro402Leu rs61753014 variant of unknown significance
Detail
0.30 (T)
(N)
N
81 MECP2 P51608 p.Pro402Thr rs150146088 variant of unknown significance
Detail
0.61 (T)
(N)
N
82 MECP2 P51608 p.Pro405Leu rs61753016 variant of unknown significance
Detail
0.20 (T)
(N)
N
83 MECP2 P51608 p.Val412Ile rs61753966 variant of unknown significance
Detail
0.40 (T)
(N)
N
84 MECP2 P51608 p.Lys417Met rs61753968 variant of unknown significance
Detail
0.25 (T)
(N)
N
85 MECP2 P51608 p.Pro419Ser rs140258520 variant of unknown significance
Detail
0.17 (T)
(N)
N
86 MECP2 P51608 p.Gly428Ser rs61753971 Encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:300673]
Detail
0.62 (T)
(N)
N
87 MECP2 P51608 p.Ala439Thr rs61753973 variant of unknown significance
Detail
0.56 (T)
(N)
N
88 MECP2 P51608 p.Thr442Ala rs61753974 variant of unknown significance
Detail
0.77 (T)
(N)
N
89 MECP2 P51608 p.Ala444Thr rs61753975 variant of unknown significance
Detail
0.37 (T)
(N)
N
90 MECP2 P51608 p.Ala447Val rs61753978 variant of unknown significance
Detail
0.26 (T)
(N)
N
91 MECP2 P51608 p.Arg453Gln rs61753980 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
Detail
0.49 (T)
(N)
N
92 MECP2 P51608 p.Glu473Asp rs75498268 variant of unknown significance
Detail
0.50 (T)
(N)
N
93 MECP2 P51608 p.Arg478Gln rs145790362 variant of unknown significance
Detail
0.34 (T)
(N)
N
94 MECP2 P51608 p.Pro480Ser - variant of unknown significance
Detail
0.62 (T)
(N)
N