Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608475
rs267608475
0.710 GeneticVariation BEFREE A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti. 10577905

1999

dbSNP: rs28934904
rs28934904
0.880 GeneticVariation BEFREE Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. 10852707

2000

dbSNP: rs28934905
rs28934905
0.810 GeneticVariation BEFREE Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. 10852707

2000

dbSNP: rs61748421
rs61748421
0.740 GeneticVariation BEFREE To study the effects of two common truncating RTT mutations (R168X and 803delG), we examined mutant MeCP2 expression and global histone acetylation levels in clonal cell cultures from a female RTT patient with the mutant R168X allele on the active X chromosome, as well as in cells from a male hemizygous for the frameshift mutation 803delG (V288X). 11331619

2001

dbSNP: rs61750240
rs61750240
0.760 GeneticVariation BEFREE Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). 11738872

2001

dbSNP: rs61748389
rs61748389
0.720 GeneticVariation BEFREE The change R133H was identified in a 13-year-old boy showing a classic RTT phenotype and normal karyotype. 11738885

2001

dbSNP: rs61750240
rs61750240
0.760 GeneticVariation BEFREE We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. 11896459

2002

dbSNP: rs61748390
rs61748390
0.810 GeneticVariation BEFREE Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. 12661945

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome. 14560307

2004

dbSNP: rs28934904
rs28934904
0.880 GeneticVariation BEFREE In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome. 14560307

2004

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005

dbSNP: rs28934904
rs28934904
0.880 GeneticVariation BEFREE Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). 15737703

2005

dbSNP: rs28935468
rs28935468
0.870 GeneticVariation BEFREE Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). 15737703

2005

dbSNP: rs61751364
rs61751364
0.770 GeneticVariation BEFREE Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). 15737703

2005

dbSNP: rs61750240
rs61750240
0.760 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005

dbSNP: rs61748421
rs61748421
0.740 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005

dbSNP: rs61751362
rs61751362
0.730 GeneticVariation BEFREE Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). 15737703

2005

dbSNP: rs61749721
rs61749721
0.720 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005

dbSNP: rs61748383
rs61748383
0.710 GeneticVariation BEFREE Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 15875198

2006

dbSNP: rs61750240
rs61750240
0.760 GeneticVariation BEFREE Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome. 16077729

2005

dbSNP: rs28934904
rs28934904
0.880 GeneticVariation BEFREE A sister with R133C displayed classic RTT. 16122633

2005

dbSNP: rs61748381
rs61748381
0.010 GeneticVariation BEFREE L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. 16672765

2006

dbSNP: rs61748395
rs61748395
0.010 GeneticVariation BEFREE The mutation (p.Y141C) lies within the methyl-binding domain, and has only been reported once in another atypical RTT. 16879196

2006

dbSNP: rs61749735
rs61749735
0.010 GeneticVariation BEFREE We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT. 16879196

2006

dbSNP: rs267608597
rs267608597
0.010 GeneticVariation BEFREE The first one, the double nucleotide substitution c.1162_1163delinsTA leading to a premature stop codon (p.Pro388X) was found in a female patient with random X-inactivation, presenting with borderline mental impairment without any features of Rett syndrome. 17383248

2007