Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 GeneticVariation CLINVAR Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342

2010
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578

2007
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936

2007
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523

2003
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522

2003
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. 11706982

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT MeCP2 mutations in children with and without the phenotype of Rett syndrome. 11402105

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 GeneticVariation CLINVAR Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. 10852707

2000
dbSNP: rs28934907
rs28934907
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000