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

1999
dbSNP: rs28934906
rs28934906
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: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation 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: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs1557136758
rs1557136758
MECP2
CT 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 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016