Gene: MECP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
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 Epilepsy in a representative series of Rett syndrome. 11227330

2001
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 Epilepsy in a representative series of Rett syndrome. 11227330

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 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 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation 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 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