MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045053
rs797045053 		1.000 5 88804788 missense variant T/C snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2016 2016
dbSNP: rs9986272
rs9986272 		5 88824509 intron variant C/T snv 4.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0003537
Disease: Aphasia
Aphasia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0026884
Disease: Mutism
Mutism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1202957297
rs1202957297 		1.000 5 88823745 missense variant C/T snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1554102556
rs1554102556 		1.000 5 88731903 splice acceptor variant T/G snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1554110298
rs1554110298 		1.000 5 88749081 frameshift variant CCTGCACCAGACG/GTGGAGAC delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs1561697465
rs1561697465 		1.000 5 88731758 frameshift variant -/T delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs267607233
rs267607233 		1.000 5 88731856 stop gained G/C snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs397514655
rs397514655 		1.000 5 88804743 missense variant A/G;T snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs397514656
rs397514656 		1.000 5 88804776 missense variant C/G snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs545185248
rs545185248 		1.000 5 88823787 start lost A/G;T snv 4.0E-06
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs587783747
rs587783747 		1.000 5 88751881 stop gained G/A snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs587783749
rs587783749 		1.000 5 88730212 frameshift variant A/- delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs730882192
rs730882192 		1.000 5 88751988 frameshift variant T/- delins
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0