Variant information
Systematic Name (NM_004992.3:) |
c.916C>T |
---|---|
Protein name (NP_004983) |
p.Arg306Cys |
Alternate systematic Name (NM_001110792.1:) |
c.952C>T |
Alternate Protein name (NP_001104262) |
p.(Arg318Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296363G>A |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 25 | :Bunyan, D.:: | View details |
2 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 73 | 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 | View details |
3 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 74 | 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 | View details |
4 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 75 | 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 | View details |
5 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 76 | 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 | View details |
6 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 77 | 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 | View details |
7 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 78 | 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 | View details |
8 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 121 | 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 | View details |
9 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 133 | 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 | View details |
10 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 136 | 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 | View details |
11 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Preserved speech | 168 | 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 | View details |
12 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 169 | 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 | View details |
13 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 170 | 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 | View details |
14 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 171 | 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 | View details |
15 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 172 | 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 | View details |
16 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 194 | 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 | View details |
17 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 234 | 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 | View details |
18 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 235 | 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 | View details |
19 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 269 | 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 | View details |
20 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 319 | 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 | View details |
21 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 320 | 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 | View details |
22 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 321 | 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 | View details |
23 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 322 | 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 | View details |
24 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 323 | 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 | View details |
25 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 324 | 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 | View details |
26 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 385 | ::: | View details |
27 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 409 | ::: | View details |
28 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 452 | ::: | View details |
29 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 459 | ::: | View details |
30 | c.916C>T | p.Arg306Cys | Female | Not Known | 469 | ::: | View details |
31 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 932 | 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 | View details |
32 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 927 | 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 | View details |
33 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Classical | 913 | ::: | View details |
34 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Classical | 911 | ::: | View details |
35 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Classical | 912 | ::: | View details |
36 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 862 | 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 | View details |
37 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 861 | 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 | View details |
38 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 860 | 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 | View details |
39 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 859 | 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 | View details |
40 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 858 | 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 | View details |
41 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 857 | 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 | View details |
42 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 856 | 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 | View details |
43 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1054 | 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 | View details |
44 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1055 | 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 | View details |
45 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1056 | 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 | View details |
46 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1057 | 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 | View details |
47 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1058 | 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 | View details |
48 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1059 | 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 | View details |
49 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1060 | 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 | View details |
50 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1061 | 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 | View details |
51 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Preserved speech | 1178 | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 | View details |
52 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1209 | 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 | View details |
53 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1231 | 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 | View details |
54 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1232 | 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 | View details |
55 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 1304 | 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 | View details |
56 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 1305 | 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 | View details |
57 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-Not certain | 1306 | 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 | View details |
58 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1401 | 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 | View details |
59 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1402 | 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 | View details |
60 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 1454 | 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 | View details |
61 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1483 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
62 | c.916C>T | p.Arg306Cys | Unknown | Rett syndrome-atypical | 1520 | 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 | View details |
63 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 1554 | ::: | View details |
64 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 1555 | MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype:Fridman C, Varela MC, Koiffmann CP:American Journal of Human Genetics: | View details |
65 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 1558 | ::: | View details |
66 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1609 | :Bunyan, D.:: | View details |
67 | c.916C>T | p.Arg306Cys | Female | Not Known | 1706 | :Friez, Michael:: | View details |
68 | c.916C>T | p.Arg306Cys | Female | Not Known | 1748 | :Friez, Michael:: | View details |
69 | c.916C>T | p.Arg306Cys | Female | Not Known | 1765 | :Friez, Michael:: | View details |
70 | c.916C>T | p.Arg306Cys | Female | Not Known | 1773 | :Friez, Michael:: | View details |
71 | c.916C>T | p.Arg306Cys | Female | Not Known | 1778 | :Friez, Michael:: | View details |
72 | c.916C>T | p.Arg306Cys | Female | Not Known | 1789 | :Friez, Michael:: | View details |
73 | c.916C>T | p.Arg306Cys | Female | Not Known | 1807 | :Friez, Michael:: | View details |
74 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1832 | :Bunyan, D.:: | View details |
75 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1833 | :Bunyan, D.:: | View details |
76 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 1905 | ::: | View details |
77 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 1959 | 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 | View details |
78 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 1964 | 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 | View details |
79 | c.916C>T | p.Arg306Cys | Female | Not Known | 2011 | ::: | View details |
80 | c.916C>T | p.Arg306Cys | Female | Not Known | 2032 | ::: | View details |
81 | c.916C>T | p.Arg306Cys | Female | Not Known | 2035 | ::: | View details |
82 | c.916C>T | p.Arg306Cys | Female | Not Known | 2040 | ::: | View details |
83 | c.916C>T | p.Arg306Cys | Female | Not Known | 2054 | ::: | View details |
84 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2320 | :Cardiff, UK:: | View details |
85 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 2322 | :Cardiff, UK:: | View details |
86 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2323 | :Cardiff, UK:: | View details |
87 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 2324 | :Cardiff, UK:: | View details |
88 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 2325 | :Cardiff, UK:: | View details |
89 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2326 | :Cardiff, UK:: | View details |
90 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 2327 | :Cardiff, UK:: | View details |
91 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Not certain | 2329 | :Cardiff, UK:: | View details |
92 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 2330 | :Cardiff, UK:: | View details |
93 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2400 | ::: | View details |
94 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2409 | ::: | View details |
95 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Preserved speech | 2413 | ::: | View details |
96 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2432 | 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 | View details |
97 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2437 | 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 | View details |
98 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2467 | ::: | View details |
99 | c.916C>T | p.Arg306Cys | Female | Not Known | 2488 | Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727 | View details |
100 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2616 | 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 | View details |
101 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2617 | 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 | View details |
102 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2618 | 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 | View details |
103 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2619 | 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 | View details |
104 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 2620 | 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 | View details |
105 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 2648 | Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome:Voutoufianakis, S., Psoni, S., Vorgia, P., Tsekoura, F., Kekou, K., Traeger-Synodinos, J., Kitsiou, S., Kanavakis, E., Fryssira, H.:European Journal of Paediatric Neurology: 17276711 | View details |
106 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2815 | 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 | View details |
107 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2816 | 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 | View details |
108 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2852 | 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 | View details |
109 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2853 | 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 | View details |
110 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-forme fruste | 2875 | 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 | View details |
111 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2876 | 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 | View details |
112 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2877 | 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 | View details |
113 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2878 | 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 | View details |
114 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2902 | 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 | View details |
115 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2903 | 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 | View details |
116 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2945 | 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 | View details |
117 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2946 | 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 | View details |
118 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 2947 | 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 | View details |
119 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 2976 | 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 | View details |
120 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3001 | 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 | View details |
121 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3002 | 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 | View details |
122 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3014 | MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 | View details |
123 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3015 | MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 | View details |
124 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3018 | MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 | View details |
125 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3143 | 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 | View details |
126 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3144 | 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 | View details |
127 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3145 | 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 | View details |
128 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3146 | 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 | View details |
129 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3147 | 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 | View details |
130 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3148 | 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 | View details |
131 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3149 | 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 | View details |
132 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3150 | 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 | View details |
133 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3151 | 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 | View details |
134 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3152 | 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 | View details |
135 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3153 | 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 | View details |
136 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3154 | 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 | View details |
137 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3155 | 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 | View details |
138 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3156 | 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 | View details |
139 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3157 | 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 | View details |
140 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3158 | 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 | View details |
141 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3361 | 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 | View details |
142 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3362 | 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 | View details |
143 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3386 | 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 | View details |
144 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3387 | 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 | View details |
145 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3388 | 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 | View details |
146 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-preserved speech | 3389 | 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 | View details |
147 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3453 | 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 | View details |
148 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3454 | 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 | View details |
149 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3455 | 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 | View details |
150 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3456 | 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 | View details |
151 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3457 | 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 | View details |
152 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3458 | 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 | View details |
153 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3459 | 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 | View details |
154 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3460 | 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 | View details |
155 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3461 | 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 | View details |
156 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3560 | 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 | View details |
157 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3561 | 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 | View details |
158 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3562 | 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 | View details |
159 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3563 | 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 | View details |
160 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3679 | 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 | View details |
161 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3680 | 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 | View details |
162 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3681 | 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 | View details |
163 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3682 | 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 | View details |
164 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3683 | 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 | View details |
165 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3684 | 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 | View details |
166 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 3685 | 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 | View details |
167 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 3797 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 | View details |
168 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3806 | Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559 | View details |
169 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 3873 | A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome:Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.:Genetic Testing and Molecular Biomarkers: 19309283 | View details |
170 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4066 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
171 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4088 | 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 | View details |
172 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4089 | 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 | View details |
173 | c.916C>T | p.Arg306Cys | Female | Not Known | 4122 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
174 | c.916C>T | p.Arg306Cys | Female | Not Known | 4123 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
175 | c.916C>T | p.Arg306Cys | Female | Not Known | 4124 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
176 | c.916C>T | p.Arg306Cys | Female | Not Known | 4125 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
177 | c.916C>T | p.Arg306Cys | Female | Not Known | 4126 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
178 | c.916C>T | p.Arg306Cys | Female | Not Known | 4127 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
179 | c.916C>T | p.Arg306Cys | Female | Not Known | 4128 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
180 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-forme fruste | 5299 | Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973 | View details |
181 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4275 | 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 | View details |
182 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 4276 | 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 | View details |
183 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Atypical | 4277 | 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 | View details |
184 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4278 | 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 | View details |
185 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4279 | 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 | View details |
186 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4280 | 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 | View details |
187 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4281 | 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 | View details |
188 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4282 | 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 | View details |
189 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4283 | 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 | View details |
190 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-Classical | 4284 | 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 | View details |
191 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4310 | 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 | View details |
192 | c.916C>T | p.Arg306Cys | Female | Not Known | 4507 | :Das, S., Dempsey, M. U. Chicago:: | View details |
193 | c.916C>T | p.Arg306Cys | Female | Not Known | 4508 | :Das, S., Dempsey, M. U. Chicago:: | View details |
194 | c.916C>T | p.Arg306Cys | Female | Not Known | 4509 | :Das, S., Dempsey, M. U. Chicago:: | View details |
195 | c.916C>T | p.Arg306Cys | Female | Not Known | 4510 | :Das, S., Dempsey, M. U. Chicago:: | View details |
196 | c.916C>T | p.Arg306Cys | Female | Not Known | 4511 | :Das, S., Dempsey, M. U. Chicago:: | View details |
197 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4747 | 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 | View details |
198 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4816 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | View details |
199 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4840 | 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 | View details |
200 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4841 | 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 | View details |
201 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4883 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
202 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4884 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
203 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4885 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
204 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 4886 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
205 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 4887 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
206 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4908 | 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 | View details |
207 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4909 | 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 | View details |
208 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 4910 | 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 | View details |
209 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 4924 | 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 | View details |
210 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 5047 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
211 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-not certain | 5048 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
212 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 6876 | :Lewis Suzanne:: | View details |
213 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-atypical | 6751 | 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 | View details |
214 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6750 | 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 | View details |
215 | c.916C>T | p.Arg306Cys | Female | Not Known | 6749 | 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 | View details |
216 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6384 | ::: | View details |
217 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6383 | ::: | View details |
218 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6382 | ::: | View details |
219 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 6381 | ::: | View details |
220 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6380 | ::: | View details |
221 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6379 | ::: | View details |
222 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6378 | ::: | View details |
223 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6377 | ::: | View details |
224 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6376 | ::: | View details |
225 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6374 | ::: | View details |
226 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6375 | ::: | View details |
227 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-forme fruste | 6373 | ::: | View details |
228 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6372 | ::: | View details |
229 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 6371 | ::: | View details |
230 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6370 | ::: | View details |
231 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6369 | ::: | View details |
232 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6367 | ::: | View details |
233 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6368 | ::: | View details |
234 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6366 | ::: | View details |
235 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6365 | ::: | View details |
236 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6364 | ::: | View details |
237 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6363 | ::: | View details |
238 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6361 | ::: | View details |
239 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 6362 | ::: | View details |
240 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6360 | ::: | View details |
241 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6359 | ::: | View details |
242 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6358 | ::: | View details |
243 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6357 | ::: | View details |
244 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6356 | ::: | View details |
245 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 6355 | ::: | View details |
246 | c.916C>T | p.Arg306Cys | Female | Not Rett synd. | 6354 | ::: | View details |
247 | c.916C>T | p.Arg306Cys | Female | Rett syndrome-classical | 7035 | MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 | View details |