No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
Reference |
1 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
101 |
MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 |
2 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
102 |
MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 |
3 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
119 |
Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
4 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
148 |
Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
5 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
181 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
6 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
182 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
7 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
183 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
8 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
184 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
9 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
203 |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 |
10 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
204 |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 |
11 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
249 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
12 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
250 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
13 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
251 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
14 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
252 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
15 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
282 |
MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
16 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
283 |
MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
17 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
314 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 |
18 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
315 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 |
19 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
316 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 |
20 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
317 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 |
21 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
343 |
Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
22 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
344 |
Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
23 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
345 |
Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
24 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
346 |
Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
25 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
378 |
::: |
26 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
387 |
::: |
27 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
388 |
::: |
28 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
393 |
::: |
29 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
403 |
::: |
30 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
410 |
::: |
31 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
420 |
::: |
32 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
478 |
::: |
33 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
947 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
34 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
945 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
35 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
926 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
36 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Forme fruste |
909 |
::: |
37 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
907 |
::: |
38 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
908 |
::: |
39 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
905 |
::: |
40 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
906 |
::: |
41 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
904 |
::: |
42 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
874 |
Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 |
43 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
873 |
Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 |
44 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
872 |
Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 |
45 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1100 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
46 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1101 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
47 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1102 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
48 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1103 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
49 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1104 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
50 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1105 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
51 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1106 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
52 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1166 |
Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 |
53 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1167 |
Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 |
54 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1168 |
Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 |
55 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1211 |
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 |
56 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1229 |
MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |
57 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1230 |
MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |
58 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1260 |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865 |
59 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1261 |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865 |
60 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1341 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
61 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1342 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
62 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1343 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
63 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1344 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
64 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1345 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
65 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1346 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
66 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1347 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
67 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1348 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
68 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1349 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
69 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1350 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
70 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1351 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
71 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1352 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
72 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1353 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
73 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-Not certain |
1354 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
74 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1378 |
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 |
75 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1418 |
DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
76 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1419 |
DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
77 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1420 |
DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
78 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1453 |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 |
79 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Unknown |
Rett syndrome-atypical |
1519 |
Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 |
80 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1689 |
:Friez, Michael:: |
81 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1690 |
:Friez, Michael:: |
82 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1694 |
:Friez, Michael:: |
83 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1701 |
:Friez, Michael:: |
84 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1718 |
:Friez, Michael:: |
85 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1728 |
:Friez, Michael:: |
86 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1731 |
:Friez, Michael:: |
87 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1760 |
:Friez, Michael:: |
88 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1784 |
:Friez, Michael:: |
89 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1785 |
:Friez, Michael:: |
90 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
1791 |
:Friez, Michael:: |
91 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1840 |
:Bunyan, D.:: |
92 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1901 |
::: |
93 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1902 |
::: |
94 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
1928 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 |
95 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
1934 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 |
96 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
1953 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 |
97 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
1956 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 |
98 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
1958 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 |
99 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
2048 |
::: |
100 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
2052 |
::: |
101 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
2064 |
::: |
102 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2308 |
:Cardiff, UK:: |
103 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2309 |
:Cardiff, UK:: |
104 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2310 |
:Cardiff, UK:: |
105 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2311 |
:Cardiff, UK:: |
106 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
2312 |
:Cardiff, UK:: |
107 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2313 |
:Cardiff, UK:: |
108 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2314 |
:Cardiff, UK:: |
109 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
2315 |
:Cardiff, UK:: |
110 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2316 |
:Cardiff, UK:: |
111 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2317 |
:Cardiff, UK:: |
112 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2318 |
:Cardiff, UK:: |
113 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2319 |
:Cardiff, UK:: |
114 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2397 |
Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
115 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2403 |
Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
116 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2445 |
Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
117 |
c.880C>T |
p.Arg294* |
Nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2449 |
::: |
118 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Male |
Rett syndrome-male variant |
2550 |
Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109 |
119 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2611 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
120 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2612 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
121 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2613 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
122 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2614 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
123 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-preserved speech |
2647 |
Rett Syndrome: Clinical and molecular characterization of two Brazilian patients:Stachon, A., Assumpção, F.B., Raskin, S.:Arq Neuropsiquiatr: 17420824 |
124 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2828 |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 |
125 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2859 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
126 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2864 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
127 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2880 |
Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 |
128 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2881 |
Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 |
129 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2901 |
MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 |
130 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Rett synd. |
2911 |
Identification of MeCP2 mutations in a series of females with autistic disorder:Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.:Pediatr Neurol: 12770674 |
131 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2944 |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 |
132 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
2970 |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 |
133 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2984 |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 |
134 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2985 |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 |
135 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3006 |
MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |
136 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3016 |
MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 |
137 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3017 |
MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 |
138 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3044 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
139 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3045 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
140 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3059 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 |
141 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3060 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 |
142 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3235 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
143 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3236 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
144 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3237 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
145 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3238 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
146 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3239 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
147 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3240 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
148 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3241 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
149 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3242 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
150 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3243 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
151 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3244 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
152 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3245 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
153 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3246 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
154 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3247 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
155 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3248 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
156 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3249 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
157 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3250 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
158 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3251 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
159 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3252 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |
160 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3363 |
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
161 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3364 |
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
162 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3365 |
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
163 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3403 |
Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
164 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3404 |
Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
165 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-preserved speech |
3405 |
Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
166 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3504 |
Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
167 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3505 |
Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
168 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3506 |
Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
169 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3591 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
170 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3592 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
171 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3593 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
172 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3732 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
173 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3733 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
174 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3734 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
175 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3735 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
176 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3736 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
177 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3737 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
178 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3738 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
179 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
3739 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
180 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
3740 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
181 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
3741 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
182 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
3742 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
183 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4090 |
Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931 |
184 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4091 |
Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931 |
185 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4129 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
186 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4130 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
187 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4131 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
188 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4132 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
189 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4133 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
190 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4134 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
191 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
4293 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
192 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
4294 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
193 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
4295 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
194 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
4296 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
195 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
4297 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
196 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
4298 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
197 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4309 |
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 |
198 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
4384 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
199 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
4385 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
200 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4499 |
:Das, S., Dempsey, M. U. Chicago:: |
201 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4500 |
:Das, S., Dempsey, M. U. Chicago:: |
202 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4501 |
:Das, S., Dempsey, M. U. Chicago:: |
203 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4502 |
:Das, S., Dempsey, M. U. Chicago:: |
204 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4503 |
:Das, S., Dempsey, M. U. Chicago:: |
205 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4504 |
:Das, S., Dempsey, M. U. Chicago:: |
206 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
4505 |
:Das, S., Dempsey, M. U. Chicago:: |
207 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4724 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
208 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4725 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
209 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4726 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
210 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4727 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
211 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
4847 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
212 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4913 |
Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 |
213 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4921 |
Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 |
214 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
4930 |
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 |
215 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
5130 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
216 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Rett synd. |
5131 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
217 |
c.880C>T |
p.Arg294* |
Missense |
TRD |
Mutation associated with disease |
Female |
Not Known |
6761 |
"MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning":"Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek":Journal of Human Genetics: 26984561 |
218 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6429 |
::: |
219 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6428 |
::: |
220 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Rett synd. |
6427 |
::: |
221 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6426 |
::: |
222 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6425 |
::: |
223 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6424 |
::: |
224 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6423 |
::: |
225 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6422 |
::: |
226 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6421 |
::: |
227 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6420 |
::: |
228 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-forme fruste |
6419 |
::: |
229 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6418 |
::: |
230 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6417 |
::: |
231 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6416 |
::: |
232 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6415 |
::: |
233 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6414 |
::: |
234 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6413 |
::: |
235 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6412 |
::: |
236 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6411 |
::: |
237 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Not Known |
6410 |
::: |
238 |
c.880C>T |
p.Arg294* |
nonsense |
TRD |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6409 |
::: |