Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 GeneticVariation CLINVAR Brief report: systematic review of Rett syndrome in males. 26254891

2015
dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 GeneticVariation CLINVAR Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. 24508304

2014
dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 GeneticVariation CLINVAR Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 20142466

2010
dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 GeneticVariation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608465
rs267608465
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 CausalMutation CLINVAR