Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. 18989701

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment. 19573459

2009

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR The spectrum of MECP2 mutations within the mainland Chinese RTT patients is similar to that of those patients reported in the world. p.T158M, p.R168X, c.806delG, p.R255X, p.R270X, p.R133C, p.R306C, and p.R106W are the hotspot mutations of MECP2 and c.806delG is a specific hotspot mutation in Chinese patients with RTT. 19552836

2009

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties. 18499664

2008

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Rett syndrome: North American database. 18174548

2007

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936

2007

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 16183801

2006

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: 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: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2003

dbSNP: rs28934906
rs28934906
A 0.900 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 12872250

2003

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001

dbSNP: rs28934906
rs28934906
A 0.900 CausalMutation CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001