No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.*98dupA |
3'UTR variation |
Female |
Unaffected father has variation |
Rett syndrome-Not certain |
1913 |
::: |
2 |
c.*98dupA |
3'UTR variation |
Male |
Relative of proband |
Not Rett synd. |
1914 |
::: |
3 |
c.*98dupA |
3'UTR variation |
Female |
Variation found in mother |
Not Known |
2118 |
:Cardiff, UK:: |
4 |
c.*98dupA |
3'UTR variation |
Female |
Relative of proband |
Not Rett synd. |
2119 |
:Cardiff, UK:: |
5 |
c.*98dupA |
3'UTR variation |
Female |
Variation found in mother |
Not Known |
2120 |
:Cardiff, UK:: |
6 |
c.*98dupA |
3'UTR variation |
Female |
Relative of proband |
Not Rett synd. |
2121 |
:Cardiff, UK:: |
7 |
c.*98dupA |
3'UTR variation |
Male |
|
Not Rett synd. |
2370 |
MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631 |
8 |
c.*98dupA |
3'UTR variation |
Female |
Patient was adopted |
Not Rett synd. |
2527 |
Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
9 |
c.*98dupA |
3'UTR variation |
Female |
Father has variation |
Not Rett synd. |
2528 |
Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
10 |
c.*98dupA |
3'UTR variation |
Female |
healthy father |
Rett syndrome-classical |
3049 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
11 |
c.*98dupA |
3'UTR variation |
Female |
in unaffected |
Not Rett synd. |
3859 |
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 |
12 |
c.*98dupA |
3'UTR variation |
Male |
in daughter with autism and mental retardation |
Not Rett synd. |
4043 |
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 |
13 |
c.*98dupA |
3'UTR variation |
Male |
|
Not Rett synd. |
4048 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
14 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
4049 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
15 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
4408 |
:Khajuria, R.:: |
16 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
4409 |
:Khajuria, R.:: |
17 |
c.*98dupA |
3'UTR variation |
Female |
|
Rett syndrome-not certain |
5228 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
18 |
c.*98dupA |
3'UTR variation |
Female |
|
Rett syndrome-not certain |
5229 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
19 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
5230 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
20 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
5231 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
21 |
c.*98dupA |
3'UTR variation |
Female |
|
Not Rett synd. |
5232 |
MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
22 |
c.*98dupA |
3'UTR variation |
Female |
|
Rett syndrome-classical |
6611 |
::: |
23 |
c.*98dupA |
3'UTR variation |
Female |
in daughter with classic RTT |
Not Rett synd. |
6347 |
::: |