Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693

2016

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693

2016

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. 23389741

2013

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. 23389741

2013

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. 22498567

2012

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 22670137

2012

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 22670137

2012

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. 22498567

2012

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 20513142

2010

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390

2010

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 20513142

2010

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390

2010

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. 19471318

2009

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. 19471318

2009

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells. 18579729

2008

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells. 18579729

2008

dbSNP: rs1554139723
rs1554139723
T 0.700 CausalMutation CLINVAR MEF2: a central regulator of diverse developmental programs. 17959722

2007

dbSNP: rs1554139870
rs1554139870
A 0.700 GeneticVariation CLINVAR MEF2: a central regulator of diverse developmental programs. 17959722

2007