No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.880C>T |
p.Arg294* |
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* |
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* |
Female |
Variation not found in parents |
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* |
Unknown |
Mother is not carrier |
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* |
Female |
Variation not found in parents |
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* |
Female |
Variation not found in parents |
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* |
Female |
Variation not found in parents |
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* |
Female |
Variation not found in parents |
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* |
Female |
No unaffected relatives found to have disease-causing mutations |
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* |
Female |
No unaffected relatives found to have disease-causing mutations |
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* |
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* |
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* |
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* |
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* |
Female |
Neither parent is carrier |
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* |
Female |
Neither parent is carrier |
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* |
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* |
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* |
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* |
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* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Female |
Mother is not carrier, Father is not carrier |
Not Known |
378 |
::: |
26 |
c.880C>T |
p.Arg294* |
Female |
Mother is not carrier |
Rett syndrome-Classical |
387 |
::: |
27 |
c.880C>T |
p.Arg294* |
Female |
Father is not carrier, Mother is not carrier |
Rett syndrome-Classical |
388 |
::: |
28 |
c.880C>T |
p.Arg294* |
Female |
Father is not carrier, Mother is not carrier |
Rett syndrome-Classical |
393 |
::: |
29 |
c.880C>T |
p.Arg294* |
Female |
Mother is not carrier, Father is not carrier, Sister is not carrier |
Rett syndrome-Classical |
403 |
::: |
30 |
c.880C>T |
p.Arg294* |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Classical |
410 |
::: |
31 |
c.880C>T |
p.Arg294* |
Female |
Mother is not carrier |
Rett syndrome-Classical |
420 |
::: |
32 |
c.880C>T |
p.Arg294* |
Female |
Mother is not carrier |
Not Known |
478 |
::: |
33 |
c.880C>T |
p.Arg294* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Unknown |
|
Rett syndrome-Forme fruste |
909 |
::: |
37 |
c.880C>T |
p.Arg294* |
Unknown |
|
Rett syndrome-Not certain |
907 |
::: |
38 |
c.880C>T |
p.Arg294* |
Unknown |
|
Rett syndrome-Not certain |
908 |
::: |
39 |
c.880C>T |
p.Arg294* |
Unknown |
|
Rett syndrome-Not certain |
905 |
::: |
40 |
c.880C>T |
p.Arg294* |
Unknown |
|
Rett syndrome-Not certain |
906 |
::: |
41 |
c.880C>T |
p.Arg294* |
Unknown |
|
Rett syndrome-Not certain |
904 |
::: |
42 |
c.880C>T |
p.Arg294* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
Neither parent has variation |
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* |
Female |
Neither parent has variation |
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* |
Female |
Affected twin sister has variation |
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* |
Female |
Affected twin sister has variation |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Unknown |
Mutation not carried by parents |
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* |
Female |
Neither parent has variation |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
|
Not Known |
1689 |
:Friez, Michael:: |
81 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1690 |
:Friez, Michael:: |
82 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1694 |
:Friez, Michael:: |
83 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1701 |
:Friez, Michael:: |
84 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1718 |
:Friez, Michael:: |
85 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1728 |
:Friez, Michael:: |
86 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1731 |
:Friez, Michael:: |
87 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1760 |
:Friez, Michael:: |
88 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1784 |
:Friez, Michael:: |
89 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1785 |
:Friez, Michael:: |
90 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
1791 |
:Friez, Michael:: |
91 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Not certain |
1840 |
:Bunyan, D.:: |
92 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Not certain |
1901 |
::: |
93 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Not certain |
1902 |
::: |
94 |
c.880C>T |
p.Arg294* |
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* |
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* |
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* |
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* |
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* |
Female |
|
Not Known |
2048 |
::: |
100 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
2052 |
::: |
101 |
c.880C>T |
p.Arg294* |
Female |
Neither parent has variation |
Not Known |
2064 |
::: |
102 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2308 |
:Cardiff, UK:: |
103 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Atypical |
2309 |
:Cardiff, UK:: |
104 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2310 |
:Cardiff, UK:: |
105 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2311 |
:Cardiff, UK:: |
106 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Not certain |
2312 |
:Cardiff, UK:: |
107 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Atypical |
2313 |
:Cardiff, UK:: |
108 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2314 |
:Cardiff, UK:: |
109 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Not certain |
2315 |
:Cardiff, UK:: |
110 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2316 |
:Cardiff, UK:: |
111 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2317 |
:Cardiff, UK:: |
112 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2318 |
:Cardiff, UK:: |
113 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-Classical |
2319 |
:Cardiff, UK:: |
114 |
c.880C>T |
p.Arg294* |
Female |
Researcher claims neither parent has variation |
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* |
Female |
Researcher claims neither parent has variation |
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* |
Female |
Researcher claims neither parent has variation |
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* |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2449 |
::: |
118 |
c.880C>T |
p.Arg294* |
Male |
mother did not have mutation |
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* |
Female |
parents negative |
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* |
Female |
sister negative |
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* |
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* |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
absent in father, mother and brother |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
absent in mother |
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* |
Female |
absent in mother |
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* |
Female |
|
Not Known |
4499 |
:Das, S., Dempsey, M. U. Chicago:: |
201 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
4500 |
:Das, S., Dempsey, M. U. Chicago:: |
202 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
4501 |
:Das, S., Dempsey, M. U. Chicago:: |
203 |
c.880C>T |
p.Arg294* |
Female |
mutation found in twin sister, mother does not carry. |
Not Known |
4502 |
:Das, S., Dempsey, M. U. Chicago:: |
204 |
c.880C>T |
p.Arg294* |
Female |
mutation found in twin sister, mother does not carry. |
Not Known |
4503 |
:Das, S., Dempsey, M. U. Chicago:: |
205 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
4504 |
:Das, S., Dempsey, M. U. Chicago:: |
206 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
4505 |
:Das, S., Dempsey, M. U. Chicago:: |
207 |
c.880C>T |
p.Arg294* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
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* |
Female |
de novo |
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* |
Female |
de novo |
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* |
Female |
Mother-negative |
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* |
Female |
|
Rett syndrome-classical |
6429 |
::: |
219 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6428 |
::: |
220 |
c.880C>T |
p.Arg294* |
Female |
|
Not Rett synd. |
6427 |
::: |
221 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6426 |
::: |
222 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6425 |
::: |
223 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6424 |
::: |
224 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6423 |
::: |
225 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6422 |
::: |
226 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6421 |
::: |
227 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6420 |
::: |
228 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-forme fruste |
6419 |
::: |
229 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6418 |
::: |
230 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6417 |
::: |
231 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6416 |
::: |
232 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6415 |
::: |
233 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6414 |
::: |
234 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6413 |
::: |
235 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6412 |
::: |
236 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6411 |
::: |
237 |
c.880C>T |
p.Arg294* |
Female |
|
Not Known |
6410 |
::: |
238 |
c.880C>T |
p.Arg294* |
Female |
|
Rett syndrome-classical |
6409 |
::: |
239 |
c.880C>T |
p.Arg294* |
Female |
denovo |
Not Rett synd. |
7004 |
Identification of autism-related MECP2
mutations by whole-exome sequencing
and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396 |