Gene: MECP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169

2003
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931

2006
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019

2001
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR MECP2 mutations in males. 17351020

2007
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR MECP2 mutations in males. 17351020

2007