Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713

2012
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. 19552836

2009
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. 16376510

2006
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. 15557528

2004
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. 12746405

2003
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 12872250

2003
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237

2001
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61750241
rs61750241
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		G 0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905

1999