Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. 28394263

2017

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Molecular diagnostic dilemmas in Rett syndrome. 22277191

2013

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). 22119903

2012

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X). 23035069

2012

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. 20631224

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. 20661168

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. 19573459

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2011

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. 20116947

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. 21420494

2011

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Epilepsy and the natural history of Rett syndrome. 20231667

2010

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

2010

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. 19217433

2009

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. 19552836

2009

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations. 19309269

2009

dbSNP: rs28934906
rs28934906
0.880 GeneticVariation BEFREE RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. 19133691

2009

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. 19442733

2009

dbSNP: rs28934906
rs28934906
0.880 CausalMutation CLINVAR Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. 19217433

2009