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 |