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

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

2014
dbSNP: rs1060499620
rs1060499620
MECP2
GCT 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1060499621
rs1060499621
MECP2
G 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1064792898
rs1064792898
MECP2
T 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1064792899
rs1064792899
MECP2
A 0.700 GeneticVariation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759

2013
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs267608438
rs267608438
MECP2
C 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs267608520
rs267608520
MECP2
CAC 0.700 CausalMutation CLINVAR Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. 23262346

2013
dbSNP: rs61749743
rs61749743
MECP2
AC 0.700 CausalMutation CLINVAR Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. 23262346

2013
dbSNP: rs61748408
rs61748408
MECP2
T 0.700 GeneticVariation CLINVAR MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. 21982064

2012
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713

2012
dbSNP: rs63749748
rs63749748
MECP2
T 0.700 CausalMutation CLINVAR Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. 22525432

2012
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110

2011
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011
dbSNP: rs267608465
rs267608465
MECP2
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: rs63749748
rs63749748
MECP2
T 0.700 CausalMutation CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908

2010
dbSNP: rs61748408
rs61748408
MECP2
T 0.700 GeneticVariation CLINVAR Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 19652677

2009
dbSNP: rs61748408
rs61748408
MECP2
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs61750241
rs61750241
MECP2
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: rs63749748
rs63749748
MECP2
T 0.700 CausalMutation CLINVAR Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. 19371229

2009
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578

2007
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs61748408
rs61748408
MECP2
T 0.700 GeneticVariation CLINVAR [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. 18021529

2007