Gene: MECP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
dbSNP: rs28934907
rs28934907
MECP2
A 0.840 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934907
rs28934907
MECP2
A 0.840 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs28934907
rs28934907
MECP2
A 0.840 GeneticVariation CLINVAR Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342

2010
dbSNP: rs28934907
rs28934907
MECP2
A 0.840 GeneticVariation CLINVAR 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: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578

2007
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Clinical profile of a male with Rett syndrome. 16182490

2005
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate. 2460487

1988
dbSNP: rs61748390
rs61748390
MECP2
C 0.810 GeneticVariation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs61749723
rs61749723
MECP2
A 0.800 GeneticVariation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs61749723
rs61749723
MECP2
A 0.800 GeneticVariation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61749723
rs61749723
MECP2
A 0.800 GeneticVariation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006
dbSNP: rs61749723
rs61749723
MECP2
A 0.800 GeneticVariation CLINVAR Reduction of mortality in specific-pathogen-free layer chickens by a caprine serum fraction after infection with Pasteurella multocida. 11055848

2000
dbSNP: rs61749723
rs61749723
MECP2
A 0.800 GeneticVariation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs61751443
rs61751443
MECP2
T 0.800 GeneticVariation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006