Proband information


Proband id 1058
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
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 25 :Bunyan, D.::
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
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
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
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
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
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
8 c.916C>T p.Arg306Cys Female Variation not found in parents 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
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
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
11 c.916C>T p.Arg306Cys Female Variation not found in parents 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
12 c.916C>T p.Arg306Cys Female Variation not found in parents 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
13 c.916C>T p.Arg306Cys Female Variation not found in parents 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
14 c.916C>T p.Arg306Cys Female Variation not found in parents 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
15 c.916C>T p.Arg306Cys Female Variation not found in parents 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
16 c.916C>T p.Arg306Cys Female No unaffected relatives found to have disease-causing mutations 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
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
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
19 c.916C>T p.Arg306Cys Female Neither parent is carrier 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
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
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
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
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
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
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
26 c.916C>T p.Arg306Cys Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 385 :::
27 c.916C>T p.Arg306Cys Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 409 :::
28 c.916C>T p.Arg306Cys Female Mother is not carrier Rett syndrome-Classical 452 :::
29 c.916C>T p.Arg306Cys Female Rett syndrome-Atypical 459 :::
30 c.916C>T p.Arg306Cys Female Mother is not carrier Not Known 469 :::
31 c.916C>T p.Arg306Cys Female Neither parent has variation 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
32 c.916C>T p.Arg306Cys Female Neither parent has variation 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
33 c.916C>T p.Arg306Cys Unknown Rett syndrome-Classical 913 :::
34 c.916C>T p.Arg306Cys Unknown Rett syndrome-Classical 911 :::
35 c.916C>T p.Arg306Cys Unknown Rett syndrome-Classical 912 :::
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
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
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
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
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
41 c.916C>T p.Arg306Cys Unknown Affected twin sibling has same variation 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
42 c.916C>T p.Arg306Cys Unknown Affected twin sibling has same variation 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
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
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
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
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
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
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
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
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
51 c.916C>T p.Arg306Cys Female Neither parent has variation 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
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
53 c.916C>T p.Arg306Cys Female Neither parent has variation 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
54 c.916C>T p.Arg306Cys Female Neither parent has variation 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
55 c.916C>T p.Arg306Cys Unknown Mutation not carried by parents 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
56 c.916C>T p.Arg306Cys Unknown Mutation not carried by parents 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
57 c.916C>T p.Arg306Cys Unknown Mutation not carried by parents 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
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
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
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
61 c.916C>T p.Arg306Cys Female Neither parent has variation 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
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
63 c.916C>T p.Arg306Cys Female parents are normal Rett syndrome-classical 1554 :::
64 c.916C>T p.Arg306Cys Female parents are normal 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:
65 c.916C>T p.Arg306Cys Female all normal Rett syndrome-atypical 1558 :::
66 c.916C>T p.Arg306Cys Female Neither parent has variation Rett syndrome-Not certain 1609 :Bunyan, D.::
67 c.916C>T p.Arg306Cys Female Not Known 1706 :Friez, Michael::
68 c.916C>T p.Arg306Cys Female Not Known 1748 :Friez, Michael::
69 c.916C>T p.Arg306Cys Female Not Known 1765 :Friez, Michael::
70 c.916C>T p.Arg306Cys Female Not Known 1773 :Friez, Michael::
71 c.916C>T p.Arg306Cys Female Not Known 1778 :Friez, Michael::
72 c.916C>T p.Arg306Cys Female Not Known 1789 :Friez, Michael::
73 c.916C>T p.Arg306Cys Female Not Known 1807 :Friez, Michael::
74 c.916C>T p.Arg306Cys Female Neither parent has variation Rett syndrome-Not certain 1832 :Bunyan, D.::
75 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 1833 :Bunyan, D.::
76 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 1905 :::
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
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
79 c.916C>T p.Arg306Cys Female Mother does not have variation, unborn sibling does not have variation Not Known 2011 :::
80 c.916C>T p.Arg306Cys Female Not Known 2032 :::
81 c.916C>T p.Arg306Cys Female Not Known 2035 :::
82 c.916C>T p.Arg306Cys Female Not Known 2040 :::
83 c.916C>T p.Arg306Cys Female Mother does not have variation Not Known 2054 :::
84 c.916C>T p.Arg306Cys Female Rett syndrome-Classical 2320 :Cardiff, UK::
85 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 2322 :Cardiff, UK::
86 c.916C>T p.Arg306Cys Female Rett syndrome-Classical 2323 :Cardiff, UK::
87 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 2324 :Cardiff, UK::
88 c.916C>T p.Arg306Cys Female Rett syndrome-Atypical 2325 :Cardiff, UK::
89 c.916C>T p.Arg306Cys Female Rett syndrome-Classical 2326 :Cardiff, UK::
90 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 2327 :Cardiff, UK::
91 c.916C>T p.Arg306Cys Female Rett syndrome-Not certain 2329 :Cardiff, UK::
92 c.916C>T p.Arg306Cys Female Rett syndrome-Atypical 2330 :Cardiff, UK::
93 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation Rett syndrome-Classical 2400 :::
94 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation Rett syndrome-Classical 2409 :::
95 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation Rett syndrome-Preserved speech 2413 :::
96 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation 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
97 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation 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
98 c.916C>T p.Arg306Cys Female Researcher claims neither parent has variation Rett syndrome-Classical 2467 :::
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
100 c.916C>T p.Arg306Cys Female parents negative 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
101 c.916C>T p.Arg306Cys Female parents negative 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
102 c.916C>T p.Arg306Cys Female sister negative 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
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
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
105 c.916C>T p.Arg306Cys Female mother - negative 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
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
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
108 c.916C>T p.Arg306Cys Female de novo 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
109 c.916C>T p.Arg306Cys Female de novo 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
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
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
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
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
114 c.916C>T p.Arg306Cys Female de novo 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
115 c.916C>T p.Arg306Cys Female de novo 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
141 c.916C>T p.Arg306Cys Female de novo 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
142 c.916C>T p.Arg306Cys Female de novo 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
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
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
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
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
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
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
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
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
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
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
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
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
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
156 c.916C>T p.Arg306Cys Female de novo 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
157 c.916C>T p.Arg306Cys Female de novo 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
158 c.916C>T p.Arg306Cys Female de novo 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
159 c.916C>T p.Arg306Cys Female de novo 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
160 c.916C>T p.Arg306Cys Female de novo 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
161 c.916C>T p.Arg306Cys Female de novo 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
162 c.916C>T p.Arg306Cys Female de novo 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
163 c.916C>T p.Arg306Cys Female de novo 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
164 c.916C>T p.Arg306Cys Female de novo 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
165 c.916C>T p.Arg306Cys Female de novo 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
166 c.916C>T p.Arg306Cys Female de novo 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
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
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
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
170 c.916C>T p.Arg306Cys Female NK Rett syndrome-not certain 4066 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
171 c.916C>T p.Arg306Cys Female de novo 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
172 c.916C>T p.Arg306Cys Female de novo 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
192 c.916C>T p.Arg306Cys Female brother tested normal Not Known 4507 :Das, S., Dempsey, M. U. Chicago::
193 c.916C>T p.Arg306Cys Female Not Known 4508 :Das, S., Dempsey, M. U. Chicago::
194 c.916C>T p.Arg306Cys Female Not Known 4509 :Das, S., Dempsey, M. U. Chicago::
195 c.916C>T p.Arg306Cys Female Not Known 4510 :Das, S., Dempsey, M. U. Chicago::
196 c.916C>T p.Arg306Cys Female Not Known 4511 :Das, S., Dempsey, M. U. Chicago::
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
212 c.916C>T p.Arg306Cys Female Parents negative Rett syndrome-atypical 6876 :Lewis Suzanne::
213 c.916C>T p.Arg306Cys Female Mother,Father-Negative 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
214 c.916C>T p.Arg306Cys Female Mother,Father-Negative 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
215 c.916C>T p.Arg306Cys Female Mother,Father-Negative 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
216 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6384 :::
217 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6383 :::
218 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6382 :::
219 c.916C>T p.Arg306Cys Female Not Rett synd. 6381 :::
220 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6380 :::
221 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6379 :::
222 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6378 :::
223 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6377 :::
224 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6376 :::
225 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6374 :::
226 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6375 :::
227 c.916C>T p.Arg306Cys Female Rett syndrome-forme fruste 6373 :::
228 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6372 :::
229 c.916C>T p.Arg306Cys Female Not Rett synd. 6371 :::
230 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6370 :::
231 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6369 :::
232 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6367 :::
233 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6368 :::
234 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6366 :::
235 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6365 :::
236 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6364 :::
237 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6363 :::
238 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6361 :::
239 c.916C>T p.Arg306Cys Female Not Rett synd. 6362 :::
240 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6360 :::
241 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6359 :::
242 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6358 :::
243 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6357 :::
244 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6356 :::
245 c.916C>T p.Arg306Cys Female Rett syndrome-classical 6355 :::
246 c.916C>T p.Arg306Cys Female Not Rett synd. 6354 :::
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