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 CausalMutation CLINVAR Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 12872250

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105

2001
dbSNP: rs28934906
rs28934906
MECP2
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
MECP2
A 0.900 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation 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: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Mutation screening in Rett syndrome patients. 10745042

2000
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 CausalMutation CLINVAR Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.900 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079

2016
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR Functional outcomes in Rett syndrome. 26175308

2016
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR MeCP2 Rett mutations affect large scale chromatin organization. 21831886

2011
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251

2004
dbSNP: rs28934904
rs28934904
MECP2
A 0.880 CausalMutation CLINVAR Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 15526954

2004