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 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931

2006
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation 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 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735

1993
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019

2001
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019

2001
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330

2001
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR MECP2 mutations in males. 17351020

2007
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR MECP2 mutations in males. 17351020

2007
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: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation 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 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169

2003
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation 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 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016