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 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs61751444
rs61751444
MECP2
A 0.700 GeneticVariation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

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: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

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 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
dbSNP: rs61751444
rs61751444
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: rs61751444
rs61751444
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 Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61751444
rs61751444
MECP2
A 0.700 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61751444
rs61751444
MECP2
A 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61751444
rs61751444
MECP2
A 0.700 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007