rs876661308
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
A
0.700
CausalMutation
CLINVAR
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
27255693
2016
rs797045053
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
C
0.700
GeneticVariation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
rs1554150607
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
Refining the phenotype associated with MEF2C point mutations.
23001426
2013
rs1554150607
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
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
rs1554150607
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
19876902
2009
rs1554150607
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
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
rs1202957297
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
T
0.700
GeneticVariation
CLINVAR
rs1554102556
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
rs1554110298
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
GTGGAGAC
0.700
CausalMutation
CLINVAR
rs1561697465
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
GT
0.700
CausalMutation
CLINVAR
rs267607233
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
C
0.700
CausalMutation
CLINVAR
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
T
0.700
CausalMutation
CLINVAR
rs397514656
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
rs545185248
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
rs587783747
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
A
0.700
CausalMutation
CLINVAR
rs587783749
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
C
0.700
CausalMutation
CLINVAR
rs730882192
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
G
0.700
CausalMutation
CLINVAR
rs869312698
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
T
0.700
CausalMutation
CLINVAR