Proband information
Proband id | 3688 |
---|---|
Systematic Name (NM_004992.3:) |
c.502C>T |
Protein name (NP_004983) |
p.Arg168* |
Alternate systematic Name (NM_001110792.1:) |
c.538C>T |
Alternate Protein name (NP_001104262) |
p.(Arg180*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296777G>A |
Mutation type | nonsense |
Domain | inter-domain region |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 80 | 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.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 81 | 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.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 82 | 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 | |
4 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 83 | 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 | |
5 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 84 | 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 | |
6 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 85 | 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 | |
7 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Preserved speech | 110 | 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 |
8 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Not certain | 111 | 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 |
9 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 112 | 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 | |
10 | c.502C>T | p.Arg168* | Unknown | Neither parent is carrier | Rett syndrome-Not certain | 142 | 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 |
11 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Classical | 173 | 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 |
12 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Classical | 174 | 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 |
13 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Classical | 175 | 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 |
14 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Classical | 176 | 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 |
15 | c.502C>T | p.Arg168* | Female | Variation not found in parents | Rett syndrome-Classical | 177 | 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 |
16 | c.502C>T | p.Arg168* | Female | No unaffected relatives found to have disease-causing mutations | Rett syndrome-Not certain | 195 | 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 |
17 | c.502C>T | p.Arg168* | Female | No unaffected relatives found to have disease-causing mutations | Rett syndrome-Not certain | 196 | 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 |
18 | c.502C>T | p.Arg168* | Female | No unaffected relatives found to have disease-causing mutations | Rett syndrome-Not certain | 197 | 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 |
19 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 213 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | |
20 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 237 | 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 | |
21 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 238 | 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 | |
22 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 239 | 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 | |
23 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 270 | 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 |
24 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 271 | 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 |
25 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 272 | 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 |
26 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 273 | 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 |
27 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 274 | 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 |
28 | c.502C>T | p.Arg168* | Female | Neither parent is carrier | Rett syndrome-Not certain | 275 | 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 |
29 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 300 | 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 | |
30 | c.502C>T | p.Arg168* | Female | Mother does not have variation, father can not be screened | Rett syndrome-Classical | 332 | 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 |
31 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 333 | 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 |
32 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 334 | 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 |
33 | c.502C>T | p.Arg168* | Female | Mother is not carrier | Not Known | 360 | ::: |
34 | c.502C>T | p.Arg168* | Female | Father is not carrier | Rett syndrome-Classical | 397 | ::: |
35 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 407 | ::: |
36 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 408 | ::: |
37 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 412 | ::: |
38 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 416 | ::: |
39 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 425 | ::: |
40 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 428 | ::: | |
41 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 444 | ::: |
42 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 457 | ::: |
43 | c.502C>T | p.Arg168* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 458 | ::: |
44 | c.502C>T | p.Arg168* | Female | Mother is not carrier | Rett syndrome-Atypical | 471 | ::: |
45 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 937 | 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 |
46 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 931 | 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 |
47 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 925 | 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 |
48 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 923 | 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 |
49 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 894 | ::: | |
50 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 892 | ::: | |
51 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 893 | ::: | |
52 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 891 | ::: | |
53 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 877 | 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 | |
54 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 876 | 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 | |
55 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 875 | 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 | |
56 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1065 | 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 | |
57 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1066 | 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 | |
58 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1067 | 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 | |
59 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1068 | 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 | |
60 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1069 | 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 | |
61 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1070 | 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 | |
62 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1071 | 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 | |
63 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1072 | 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 | |
64 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1073 | 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 | |
65 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1074 | 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 | |
66 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1075 | 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 | |
67 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1076 | 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 | |
68 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1077 | 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 | |
69 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1160 | 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 | |
70 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1161 | 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 | |
71 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1162 | 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 | |
72 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1208 | 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 | |
73 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 1227 | 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 |
74 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Classical | 1228 | 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 |
75 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1307 | 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 |
76 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1308 | 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 |
77 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1309 | 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 |
78 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1310 | 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 |
79 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1311 | 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 |
80 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1312 | 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 |
81 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1313 | 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 |
82 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1314 | 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 |
83 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1315 | 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 |
84 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1316 | 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 |
85 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1317 | 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 |
86 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1318 | 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 |
87 | c.502C>T | p.Arg168* | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1319 | 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 |
88 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Not certain | 1377 | 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 |
89 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1405 | 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 | |
90 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1406 | 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 | |
91 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1407 | 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 | |
92 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1445 | 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 | |
93 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1446 | 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 | |
94 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1447 | 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 | |
95 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1448 | 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 | |
96 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1467 | 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 | |
97 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1485 | 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 |
98 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1486 | 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 |
99 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1487 | 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 |
100 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1488 | 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 |
101 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1489 | 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 |
102 | c.502C>T | p.Arg168* | Unknown | Variation not found in mother | Rett syndrome-Classical | 1490 | 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 |
103 | c.502C>T | p.Arg168* | Female | Variation found in unaffected mother, variation found in affected sister, variation not found in unaffected sisters | Rett syndrome-Not certain | 1491 | 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 |
104 | c.502C>T | p.Arg168* | Female | Variation found in unaffected mother, variation found in affected sister, variation not found in unaffected sisters | Rett syndrome-Not certain | 1492 | 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 |
105 | c.502C>T | p.Arg168* | Female | Variation found in two affected daughters, variation not found in two unaffected daughters | Not Rett synd. | 1493 | 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 |
106 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1601 | :Bunyan, D.:: | |
107 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Not certain | 1604 | :Bunyan, D.:: |
108 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1642 | :Bunyan, D.:: | |
109 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1656 | ::: | |
110 | c.502C>T | p.Arg168* | Female | Not Known | 1660 | :Friez, Michael:: | |
111 | c.502C>T | p.Arg168* | Female | Not Known | 1664 | :Friez, Michael:: | |
112 | c.502C>T | p.Arg168* | Female | Not Known | 1667 | :Friez, Michael:: | |
113 | c.502C>T | p.Arg168* | Female | Not Known | 1676 | :Friez, Michael:: | |
114 | c.502C>T | p.Arg168* | Female | Not Known | 1683 | :Friez, Michael:: | |
115 | c.502C>T | p.Arg168* | Female | Not Known | 1691 | :Friez, Michael:: | |
116 | c.502C>T | p.Arg168* | Female | Not Known | 1692 | :Friez, Michael:: | |
117 | c.502C>T | p.Arg168* | Female | Not Known | 1696 | :Friez, Michael:: | |
118 | c.502C>T | p.Arg168* | Female | Not Known | 1697 | :Friez, Michael:: | |
119 | c.502C>T | p.Arg168* | Female | Not Known | 1710 | :Friez, Michael:: | |
120 | c.502C>T | p.Arg168* | Female | Not Known | 1714 | :Friez, Michael:: | |
121 | c.502C>T | p.Arg168* | Female | Not Known | 1720 | :Friez, Michael:: | |
122 | c.502C>T | p.Arg168* | Female | Not Known | 1761 | :Friez, Michael:: | |
123 | c.502C>T | p.Arg168* | Female | Not Known | 1796 | :Friez, Michael:: | |
124 | c.502C>T | p.Arg168* | Female | Not Known | 1800 | :Friez, Michael:: | |
125 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Not certain | 1821 | :Bunyan, D.:: |
126 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-Not certain | 1861 | :Bunyan, D.:: |
127 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1889 | ::: | |
128 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1890 | ::: | |
129 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 1925 | 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 | |
130 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-classical | 1937 | 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 |
131 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1949 | 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 | |
132 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1954 | 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 | |
133 | c.502C>T | p.Arg168* | Female | Neither parent has variation | Rett syndrome-classical | 1955 | 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 |
134 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1960 | 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 | |
135 | c.502C>T | p.Arg168* | Female | Not Known | 2017 | ::: | |
136 | c.502C>T | p.Arg168* | Female | Not Known | 2022 | ::: | |
137 | c.502C>T | p.Arg168* | Female | Mother does not have variation, unborn sibling twins do not have variation | Not Known | 2036 | ::: |
138 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2227 | :Cardiff, UK:: | |
139 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2228 | :Cardiff, UK:: | |
140 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2229 | :Cardiff, UK:: | |
141 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 2230 | :Cardiff, UK:: | |
142 | c.502C>T | p.Arg168* | Female | Atypical Rett syndrome mother has variation, maternal grandparents do not have variation | Rett syndrome-Classical | 2231 | :Cardiff, UK:: |
143 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 2232 | :Cardiff, UK:: | |
144 | c.502C>T | p.Arg168* | Female | Classic Rett syndrome daughter has variation, parents do not have variation | Rett syndrome-Atypical | 2233 | :Cardiff, UK:: |
145 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2234 | :Cardiff, UK:: | |
146 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2235 | :Cardiff, UK:: | |
147 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2236 | :Cardiff, UK:: | |
148 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2237 | :Cardiff, UK:: | |
149 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2238 | :Cardiff, UK:: | |
150 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2239 | :Cardiff, UK:: | |
151 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2240 | :Cardiff, UK:: | |
152 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2241 | :Cardiff, UK:: | |
153 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2242 | :Cardiff, UK:: | |
154 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2243 | :Cardiff, UK:: | |
155 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2244 | :Cardiff, UK:: | |
156 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2245 | :Cardiff, UK:: | |
157 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2247 | :Cardiff, UK:: | |
158 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2248 | :Cardiff, UK:: | |
159 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2249 | :Cardiff, UK:: | |
160 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2250 | :Cardiff, UK:: | |
161 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2251 | :Cardiff, UK:: | |
162 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2252 | :Cardiff, UK:: | |
163 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2253 | :Cardiff, UK:: | |
164 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2254 | :Cardiff, UK:: | |
165 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2255 | :Cardiff, UK:: | |
166 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2256 | :Cardiff, UK:: | |
167 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2257 | :Cardiff, UK:: | |
168 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2258 | :Cardiff, UK:: | |
169 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2259 | :Cardiff, UK:: | |
170 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2260 | :Cardiff, UK:: | |
171 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2261 | :Cardiff, UK:: | |
172 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2262 | :Cardiff, UK:: | |
173 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Preserved speech | 2404 | 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 |
174 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Congenital onset | 2406 | 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 |
175 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2420 | 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 |
176 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Preserved speech | 2422 | 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 |
177 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2427 | ::: |
178 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2441 | ::: | |
179 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2454 | ::: |
180 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Congenital onset | 2458 | ::: |
181 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2462 | ::: |
182 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2463 | ::: |
183 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2469 | ::: | |
184 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Preserved speech | 2474 | ::: |
185 | c.502C>T | p.Arg168* | Female | Researcher claims neither parent has variation | Rett syndrome-Congenital onset | 2485 | ::: |
186 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 2541 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 | |
187 | c.502C>T | p.Arg168* | Female | parents negative | Rett syndrome-Classical | 2593 | 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 |
188 | c.502C>T | p.Arg168* | Female | parents negative | Rett syndrome-Classical | 2594 | 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 |
189 | c.502C>T | p.Arg168* | Female | parents negative | Rett syndrome-Classical | 2595 | 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 |
190 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2819 | 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 | |
191 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 2895 | 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 |
192 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2938 | 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 | |
193 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2939 | 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 | |
194 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 2964 | 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 | |
195 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2978 | 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 | |
196 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2979 | 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 | |
197 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2980 | 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 | |
198 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3003 | 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 | |
199 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3004 | 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 | |
200 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3013 | MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 | |
201 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3040 | 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 |
202 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3051 | 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 | |
203 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3052 | 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 | |
204 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3053 | 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 | |
205 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3054 | 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 | |
206 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3171 | 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 | |
207 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3172 | 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 | |
208 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3173 | 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 | |
209 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3174 | 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 | |
210 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3175 | 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 | |
211 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3176 | 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 | |
212 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3177 | 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 | |
213 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3178 | 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 | |
214 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3179 | 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 | |
215 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3180 | 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 | |
216 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3181 | 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 | |
217 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3182 | 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 | |
218 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3183 | 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 | |
219 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3184 | 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 | |
220 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3185 | 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 | |
221 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3186 | 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 | |
222 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3187 | 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 | |
223 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3188 | 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 | |
224 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3189 | 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 | |
225 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3190 | 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 | |
226 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3191 | 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 | |
227 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3192 | 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 | |
228 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3193 | 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 | |
229 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3194 | 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 | |
230 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3195 | 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 | |
231 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3196 | 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 | |
232 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3197 | 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 | |
233 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3354 | Trisomy 21 and Rett syndrome: a double burden:Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J:J Paediatr Child Health: 15228575 |
234 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3367 | 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 |
235 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3368 | 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 |
236 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3369 | 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 |
237 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3406 | 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 | |
238 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3407 | 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 | |
239 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3463 | 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 | |
240 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3464 | 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 | |
241 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3465 | 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 | |
242 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3466 | 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 | |
243 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3467 | 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 | |
244 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3468 | 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 | |
245 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3469 | 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 | |
246 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3470 | 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 | |
247 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3471 | 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 | |
248 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3472 | 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 | |
249 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3473 | 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 | |
250 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3474 | 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 | |
251 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3475 | 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 | |
252 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3476 | 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 | |
253 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3477 | 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 | |
254 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3567 | 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 |
255 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3568 | 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 |
256 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3569 | 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 |
257 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3570 | 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 |
258 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3571 | 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 |
259 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3572 | 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 |
260 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3573 | 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 |
261 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3574 | 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 |
262 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3575 | 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 |
263 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3576 | 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 |
264 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3577 | 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 |
265 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3578 | 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 |
266 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3688 | 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 |
267 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3689 | 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 |
268 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3690 | 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 |
269 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3691 | 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 |
270 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3692 | 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 |
271 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3693 | 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 |
272 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3694 | 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 |
273 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3695 | 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 |
274 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3696 | 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 |
275 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3697 | 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 |
276 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3698 | 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 |
277 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3699 | 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 |
278 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3700 | 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 |
279 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3701 | 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 |
280 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3702 | 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 |
281 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3703 | 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 |
282 | c.502C>T | p.Arg168* | Female | de novo | Rett syndrome-classical | 3704 | 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 |
283 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3791 | 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 | |
284 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3815 | Genetic testing in autism: how much is enough?:Herman, GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL:Genetics in Medicine: 17505203 | |
285 | c.502C>T | p.Arg168* | Female | NK | Rett syndrome-not certain | 4067 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
286 | c.502C>T | p.Arg168* | Female | Not Known | 4140 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
287 | c.502C>T | p.Arg168* | Female | Not Known | 4141 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
288 | c.502C>T | p.Arg168* | Female | Not Known | 4142 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
289 | c.502C>T | p.Arg168* | Female | Not Known | 4143 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
290 | c.502C>T | p.Arg168* | Female | Not Known | 4144 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
291 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4251 | 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 | |
292 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4252 | 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 | |
293 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4253 | 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 | |
294 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4254 | 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 | |
295 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4255 | 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 | |
296 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4256 | 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 | |
297 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4257 | 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 | |
298 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4258 | 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 | |
299 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4259 | 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 | |
300 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 4260 | 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 | |
301 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4305 | Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224 | |
302 | c.502C>T | p.Arg168* | Female | absent in mother | Rett syndrome-Classical | 4371 | 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 |
303 | c.502C>T | p.Arg168* | Female | absent in mother | Rett syndrome-Classical | 4372 | 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 |
304 | c.502C>T | p.Arg168* | Female | absent in mother | Rett syndrome-Atypical | 4373 | 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 |
305 | c.502C>T | p.Arg168* | Female | Not Known | 4461 | :Das, S., Dempsey, M. U. Chicago:: | |
306 | c.502C>T | p.Arg168* | Female | Not Known | 4462 | :Das, S., Dempsey, M. U. Chicago:: | |
307 | c.502C>T | p.Arg168* | Female | Not Known | 4463 | :Das, S., Dempsey, M. U. Chicago:: | |
308 | c.502C>T | p.Arg168* | Female | Not Known | 4464 | :Das, S., Dempsey, M. U. Chicago:: | |
309 | c.502C>T | p.Arg168* | Female | Not Known | 4465 | :Das, S., Dempsey, M. U. Chicago:: | |
310 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 4715 | 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 | |
311 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 4716 | 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 | |
312 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4811 | 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 | |
313 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4842 | 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 | |
314 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4843 | 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 | |
315 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4870 | 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 | |
316 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4871 | 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 | |
317 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4872 | 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 | |
318 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4873 | 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 | |
319 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5055 | 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 | |
320 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5056 | 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 | |
321 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5057 | 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 | |
322 | c.502C>T | p.Arg168* | Female | Mother,Father-Negative | Not Rett synd. | 6737 | 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 |
323 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6501 | ::: | |
324 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6500 | ::: | |
325 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6499 | ::: | |
326 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6498 | ::: | |
327 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6497 | ::: | |
328 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6496 | ::: | |
329 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6495 | ::: | |
330 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6494 | ::: | |
331 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6493 | ::: | |
332 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6492 | ::: | |
333 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6491 | ::: | |
334 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6490 | ::: | |
335 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6489 | ::: | |
336 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6488 | ::: | |
337 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6487 | ::: | |
338 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6486 | ::: | |
339 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6485 | ::: | |
340 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6484 | ::: | |
341 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6483 | ::: | |
342 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6482 | ::: | |
343 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6481 | ::: | |
344 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6480 | ::: | |
345 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6479 | ::: | |
346 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6478 | ::: | |
347 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6477 | ::: | |
348 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6476 | ::: | |
349 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6475 | ::: | |
350 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6474 | ::: | |
351 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6473 | ::: | |
352 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6472 | ::: | |
353 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6471 | ::: | |
354 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6470 | ::: | |
355 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6469 | ::: | |
356 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6468 | ::: | |
357 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6467 | ::: | |
358 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6466 | ::: | |
359 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6465 | ::: | |
360 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6464 | ::: | |
361 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6463 | ::: | |
362 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6462 | ::: | |
363 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6461 | ::: | |
364 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 7033 | 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 |