MEF2C (myocyte enhancer factor 2C)

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Gene: MEF2C (myocyte enhancer factor 2C) Homo sapiens

Analyze

Symbol:

MEF2C

Name:

myocyte enhancer factor 2C

RGD ID:

1349172

HGNC Page

HGNC:6996

Description:

Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and protein heterodimerization activity. Involved in several processes, including negative regulation of cell migration; positive regulation of cell differentiation; and regulation of transcription by RNA polymerase II. Located in cytoplasm and nuclear speck. Part of protein-containing complex. Implicated in neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C5DELq14.3; DEL5q14.3; MADS box transcription enhancer factor 2, polypeptide C; myocyte-specific enhancer factor 2C; NEDHSIL

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mef2c (myocyte enhancer factor 2C)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mef2c (myocyte enhancer factor 2C)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Mef2c (myocyte enhancer factor 2C)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MEF2C (myocyte enhancer factor 2C)	NCBI	Ortholog
Canis lupus familiaris (dog):	MEF2C (myocyte enhancer factor 2C)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mef2c (myocyte enhancer factor 2C)	NCBI	Ortholog
Sus scrofa (pig):	MEF2C (myocyte enhancer factor 2C)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MEF2C (myocyte enhancer factor 2C)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mef2c (myocyte enhancer factor 2C)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mef2c (myocyte enhancer factor 2C)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mef2c (myocyte enhancer factor 2C)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	mef2ca (myocyte enhancer factor 2ca)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	mef2cb (myocyte enhancer factor 2cb)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Mef2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	RLM1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	SMP1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	mef-2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	88,717,117 - 88,904,105 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	5	88,717,117 - 88,904,257 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	88,012,934 - 88,199,922 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	88,051,922 - 88,214,780 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	88,051,921 - 88,214,780	NCBI
Celera	5	83,907,023 - 84,092,551 (-)	NCBI		Celera
Cytogenetic Map	5	q14.3	NCBI
HuRef	5	83,218,989 - 83,404,187 (-)	NCBI		HuRef
CHM1_1	5	87,447,103 - 87,632,656 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	89,198,250 - 89,385,215 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (EXP,IAGP)

autistic disorder (EXP)

dilated cardiomyopathy (ISO)

epilepsy (EXP,IAGP)

Experimental Diabetes Mellitus (ISO)

familial adenomatous polyposis 1 (IAGP)

frontotemporal dementia (IAGP)

Generalized Epilepsy (IAGP)

genetic disease (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

intellectual disability (EXP,IAGP)

Left Ventricular Hypertrophy (ISO)

myocardial infarction (ISO)

neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (IAGP)

Neurodevelopmental Disorders (EXP,IAGP)

status epilepticus (EXP,ISO)

stereotypic movement disorder (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-pilocarpine (ISO)

(S)-nicotine (ISO)

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2-butoxyethanol (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

acadesine (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

amiodarone (EXP)

amphetamine (ISO)

aristolochic acid A (EXP)

Aroclor 1254 (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (ISO)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

buta-1,3-diene (ISO)

caffeine (ISO)

cannabidiol (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chlorpyrifos (ISO)

chrysene (ISO)

crocidolite asbestos (ISO)

curcumin (ISO)

cyclosporin A (EXP)

dantrolene (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

dimethyl sulfoxide (EXP)

dimethylarsinic acid (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenvalerate (ISO)

ferric oxide (ISO)

formaldehyde (EXP)

gentamycin (ISO)

Goe 6976 (ISO)

hydrogen cyanide (ISO)

hydrogen peroxide (EXP,ISO)

icariin (ISO)

indometacin (EXP)

isoprenaline (ISO)

isotretinoin (EXP)

isoxazoles (EXP)

lead(0) (EXP)

lead(2+) (EXP)

maneb (EXP)

manganese(II) chloride (ISO)

metformin (EXP)

methotrexate (ISO)

methyl methanesulfonate (EXP)

methylarsonic acid (ISO)

methylmercury chloride (EXP)

methylseleninic acid (EXP)

mifepristone (ISO)

N-methyl-4-phenylpyridinium (ISO)

nickel atom (ISO)

nickel sulfate (ISO)

nicotine (ISO)

nitrofen (ISO)

oxaliplatin (ISO)

panobinostat (EXP)

paracetamol (EXP)

paraquat (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenylephrine (ISO)

phenylmercury acetate (EXP)

phosgene (ISO)

pioglitazone (ISO)

pirinixic acid (ISO)

poly(I:C) (ISO)

resveratrol (EXP,ISO)

rofecoxib (EXP)

SB 203580 (ISO)

SB 431542 (EXP)

silicon dioxide (ISO)

silver atom (ISO)

silver(0) (ISO)

sodium arsenate (ISO)

sodium arsenite (ISO)

spermine (ISO)

streptozocin (EXP,ISO)

succimer (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

trimellitic anhydride (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ development (IEA)

apoptotic process (IEA)

B cell homeostasis (ISS)

B cell proliferation (ISS)

B cell receptor signaling pathway (ISS)

blood vessel development (ISO,ISS)

blood vessel remodeling (ISO,ISS)

cardiac muscle cell differentiation (ISO)

cardiac muscle hypertrophy in response to stress (ISO)

cardiac ventricle formation (ISO,ISS)

cartilage morphogenesis (ISO)

cell differentiation (IBA,IEA)

cell fate commitment (ISO)

cell morphogenesis involved in neuron differentiation (ISS)

cell proliferation in bone marrow (ISO)

cellular response to calcium ion (ISS)

cellular response to fluid shear stress (ISS)

cellular response to glucose stimulus (ISO)

cellular response to growth factor stimulus (ISO)

cellular response to lipopolysaccharide (ISS)

cellular response to organic cyclic compound (ISO)

cellular response to parathyroid hormone stimulus (IDA)

cellular response to retinoic acid (ISO)

cellular response to transforming growth factor beta stimulus (IDA)

cellular response to trichostatin A (ISS)

cellular response to xenobiotic stimulus (ISS)

chondrocyte differentiation (ISO,ISS)

dentate gyrus development (ISO)

DNA-templated transcription (IEA)

embryonic heart tube development (ISO)

embryonic skeletal system morphogenesis (ISO)

embryonic viscerocranium morphogenesis (ISO)

endochondral ossification (ISO,ISS)

epithelial cell proliferation involved in renal tubule morphogenesis (ISS)

excitatory postsynaptic potential (ISS)

gene expression (ISO)

germinal center formation (ISS)

glomerulus morphogenesis (ISS)

heart development (IBA,IEP,ISO,ISS,NAS)

heart looping (ISS)

humoral immune response (ISS)

learning or memory (ISS)

MAPK cascade (IDA,IMP)

melanocyte differentiation (ISS)

monocyte differentiation (ISO)

muscle cell fate determination (ISO,ISS)

muscle organ development (TAS)

myotube differentiation (IEP)

negative regulation of blood vessel endothelial cell migration (IGI)

negative regulation of epithelial cell proliferation (ISO)

negative regulation of gene expression (ISS)

negative regulation of neuron apoptotic process (ISS)

negative regulation of ossification (IDA)

negative regulation of transcription by RNA polymerase II (IMP,ISO)

negative regulation of vascular associated smooth muscle cell migration (IDA,IGI)

negative regulation of vascular associated smooth muscle cell proliferation (IDA,IGI)

negative regulation of vascular endothelial cell proliferation (IGI)

nephron tubule epithelial cell differentiation (ISS)

nervous system development (IEA,TAS)

neural crest cell differentiation (ISS)

neuron development (ISS)

neuron differentiation (IEP,ISS)

neuron migration (ISS)

osteoblast differentiation (ISO,ISS)

outflow tract morphogenesis (ISO,ISS)

platelet formation (ISS)

positive regulation of alkaline phosphatase activity (ISS)

positive regulation of B cell proliferation (ISS)

positive regulation of behavioral fear response (ISS)

positive regulation of bone mineralization (ISS)

positive regulation of cardiac muscle cell differentiation (IDA)

positive regulation of cardiac muscle cell proliferation (ISS)

positive regulation of cardiac muscle hypertrophy (ISO)

positive regulation of cell proliferation in bone marrow (ISO)

positive regulation of DNA-templated transcription (IDA,IEA,ISO)

positive regulation of gene expression (IDA)

positive regulation of macrophage apoptotic process (ISS)

positive regulation of MAP kinase activity (ISS)

positive regulation of myoblast differentiation (IMP)

positive regulation of neuron differentiation (ISS)

positive regulation of osteoblast differentiation (ISS)

positive regulation of skeletal muscle cell differentiation (IDA)

positive regulation of skeletal muscle tissue development (IMP)

positive regulation of transcription by RNA polymerase II (IBA,IDA,IEA,IMP,ISO)

primary heart field specification (ISS)

regulation of AMPA receptor activity (ISS)

regulation of dendritic spine development (ISS)

regulation of DNA-templated transcription (IDA,IEA,ISO)

regulation of germinal center formation (ISS)

regulation of megakaryocyte differentiation (ISS)

regulation of neuron apoptotic process (ISS)

regulation of neurotransmitter secretion (ISS)

regulation of NMDA receptor activity (ISS)

regulation of sarcomere organization (ISO)

regulation of synapse assembly (ISS)

regulation of synaptic activity (ISS)

regulation of synaptic plasticity (ISS)

regulation of synaptic transmission, glutamatergic (ISS)

regulation of transcription by RNA polymerase II (IBA,IEA)

renal tubule morphogenesis (ISS)

response to ischemia (ISS)

response to nutrient levels (ISO)

response to vitamin E (ISO)

roof of mouth development (ISO)

secondary heart field specification (ISS)

semaphorin-plexin signaling pathway involved in axon guidance (ISO)

sinoatrial valve morphogenesis (ISS)

skeletal muscle cell differentiation (ISO)

skeletal muscle tissue development (ISO,ISS)

smooth muscle cell differentiation (ISO,ISS)

sympathetic neuron axon guidance (ISO)

transdifferentiation (ISO)

ventricular cardiac muscle cell differentiation (ISS)

Cellular Component

chromatin (ISA)

cytoplasm (IDA,IEA,ISO)

cytosol (ISS)

intracellular membrane-bounded organelle (IDA)

nuclear speck (IDA)

nucleoplasm (IDA,TAS)

nucleus (IDA,IEA,ISO)

postsynapse (IEA)

protein-containing complex (IDA)

sarcomere (ISO)

sarcoplasm (IEA)

Molecular Function

chromatin binding (ISO)

cis-regulatory region sequence-specific DNA binding (ISO)

DNA binding (IDA,IEA,ISO)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA)

DNA-binding transcription factor activity (IDA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IDA,IEA,ISA,ISO,ISS)

DNA-binding transcription factor binding (IPI)

histone deacetylase binding (IBA)

HMG box domain binding (ISO)

minor groove of adenine-thymine-rich DNA binding (IDA)

protein binding (IPI,ISO)

protein dimerization activity (IEA)

protein heterodimerization activity (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IDA,IEA)

RNA polymerase II-specific DNA-binding transcription factor binding (IPI)

sequence-specific DNA binding (ISO)

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (ISS)

Molecular Pathway Annotations Click to see Annotation Detail View

mitogen activated protein kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

2-3 toe syndactyly (IAGP)

Abnormal periventricular white matter morphology (IAGP)

Absent speech (IAGP)

Agenesis of cerebellar vermis (IAGP)

Anteverted nares (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Broad forehead (IAGP)

Clinodactyly of the 5th finger (IAGP)

Deeply set eye (IAGP)

Delayed ability to sit (IAGP)

Delayed ability to walk (IAGP)

Delayed speech and language development (IAGP)

Depressed nasal bridge (IAGP)

Dilated fourth ventricle (IAGP)

Downturned corners of mouth (IAGP)

Epileptic encephalopathy (IAGP)

Feeding difficulties (IAGP)

Frontal cortical atrophy (IAGP)

Frontotemporal dementia (IAGP)

High forehead (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotonia (IAGP)

Inability to walk (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Intellectual disability, severe (IAGP)

Lateral ventricle dilatation (IAGP)

Lobulated tongue (IAGP)

Low-set ears (IAGP)

Motor stereotypy (IAGP)

Open mouth (IAGP)

Optic nerve hypoplasia (IAGP)

Poor eye contact (IAGP)

Seizure (IAGP)

Short chin (IAGP)

Short nose (IAGP)

Short philtrum (IAGP)

Single transverse palmar crease (IAGP)

Sporadic (IAGP)

Strabismus (IAGP)

Thick eyebrow (IAGP)

Thin upper lip vermilion (IAGP)

Toe syndactyly (IAGP)

Upslanted palpebral fissure (IAGP)

Ventriculomegaly (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Regulation of cardiomyocyte hypertrophy in diabetes at the transcriptional level.	Feng B, etal., Am J Physiol Endocrinol Metab. 2008 Jun;294(6):E1119-26. Epub 2008 Apr 15.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	MEF2C silencing attenuates load-induced left ventricular hypertrophy by modulating mTOR/S6K pathway in mice.	Pereira AH, etal., PLoS One. 2009 Dec 29;4(12):e8472.
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Myocyte-specific enhancer binding factor 2C (MEF2C) expression in the dentate gyrus during development and after pilocarpine-induced status epilepticus: a preliminary report.	Scorza CA, etal., Arq Neuropsiquiatr. 2008 Sep;66(3B):731-5.
10.	Myocyte enhancer factors 2A and 2C induce dilated cardiomyopathy in transgenic mice.	Xu J, etal., J Biol Chem. 2006 Apr 7;281(14):9152-62. Epub 2006 Feb 9.
11.	Phenanthrene exposure causes cardiac arrhythmia in embryonic zebrafish via perturbing calcium handling.	Zhang Y, etal., Aquat Toxicol. 2013 Jul 29;142-143C:26-32. doi: 10.1016/j.aquatox.2013.07.014.

Additional References at PubMed

PMID:7679508	PMID:8455629	PMID:8548800	PMID:8575763	PMID:8575784	PMID:8663403	PMID:8900141	PMID:8948587	PMID:9001254	PMID:9069290	PMID:9384584	PMID:9418854
PMID:9748305	PMID:9753748	PMID:9770491	PMID:9798649	PMID:9857019	PMID:9858528	PMID:10082551	PMID:10330143	PMID:10458488	PMID:10523670	PMID:10737771	PMID:10790371
PMID:10805738	PMID:11160896	PMID:11279209	PMID:11486037	PMID:11504882	PMID:11535832	PMID:11554755	PMID:11744164	PMID:11792813	PMID:11809751	PMID:12061776	PMID:12130539
PMID:12135755	PMID:12376544	PMID:12477932	PMID:12659851	PMID:12709441	PMID:12861002	PMID:15084602	PMID:15140898	PMID:15276183	PMID:15340086	PMID:15342556	PMID:15486975
PMID:15561718	PMID:15743821	PMID:15743823	PMID:15831463	PMID:15834131	PMID:15923648	PMID:15964851	PMID:16043483	PMID:16344560	PMID:16478538	PMID:16504037	PMID:16510869
PMID:17611778	PMID:17696759	PMID:17903302	PMID:18029348	PMID:18067759	PMID:18079734	PMID:18332106	PMID:18463162	PMID:18588859	PMID:18660489	PMID:18950845	PMID:19011954
PMID:19065516	PMID:19093215	PMID:19274049	PMID:19453261	PMID:19553684	PMID:19592390	PMID:19720801	PMID:19751190	PMID:19801982	PMID:19828686	PMID:19913121	PMID:20211142
PMID:20333642	PMID:20412115	PMID:20513142	PMID:20610535	PMID:20628086	PMID:20709755	PMID:20881960	PMID:20936779	PMID:21060863	PMID:21170291	PMID:21481790	PMID:21533022
PMID:21556048	PMID:21610032	PMID:21652706	PMID:21849497	PMID:21873635	PMID:21901155	PMID:21988832	PMID:22073279	PMID:22139419	PMID:22275376	PMID:22363514	PMID:22449245
PMID:22504420	PMID:22718505	PMID:22798246	PMID:22997707	PMID:23001426	PMID:23174904	PMID:23226416	PMID:23382706	PMID:23389741	PMID:23400010	PMID:23468913	PMID:23572186
PMID:23752268	PMID:23776548	PMID:23888946	PMID:24008018	PMID:24162737	PMID:24249740	PMID:24290359	PMID:24337390	PMID:24412363	PMID:24988463	PMID:25056061	PMID:25328135
PMID:25336633	PMID:25352737	PMID:25404735	PMID:25416133	PMID:25429064	PMID:25609649	PMID:25691421	PMID:25733682	PMID:25789873	PMID:26172269	PMID:26184978	PMID:26426104
PMID:26487643	PMID:26864752	PMID:26900922	PMID:26921792	PMID:26923194	PMID:27144530	PMID:27255693	PMID:27268728	PMID:27276684	PMID:27297623	PMID:27337099	PMID:27479909
PMID:27553283	PMID:27616567	PMID:27664809	PMID:27907007	PMID:28017720	PMID:28456137	PMID:28473437	PMID:28473536	PMID:28482719	PMID:28514442	PMID:28799067	PMID:28821601
PMID:28902616	PMID:29104469	PMID:29112298	PMID:29413154	PMID:29431698	PMID:29468350	PMID:29526696	PMID:29678826	PMID:29714661	PMID:29863696	PMID:29995456	PMID:30006604
PMID:30335237	PMID:30376817	PMID:30445463	PMID:31040226	PMID:31094920	PMID:31140610	PMID:31254364	PMID:31900516	PMID:31988313	PMID:32003456	PMID:32017034	PMID:32046534
PMID:32140074	PMID:32186750	PMID:32296183	PMID:32410261	PMID:32513696	PMID:32975584	PMID:33187986	PMID:33270893	PMID:33303006	PMID:33567341	PMID:33568691	PMID:33831796
PMID:33961781	PMID:33984142	PMID:33999292	PMID:34022131	PMID:34184825	PMID:34570228	PMID:34731014	PMID:34732716	PMID:34779502	PMID:34946961	PMID:34991657	PMID:35130621
PMID:35140242	PMID:35229259	PMID:35357565	PMID:35406681	PMID:35416405	PMID:35719119	PMID:36064442	PMID:36128051	PMID:36198203	PMID:36250223	PMID:36283406

Genomics

Comparative Map Data

MEF2C
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	88,717,117 - 88,904,105 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	5	88,717,117 - 88,904,257 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	88,012,934 - 88,199,922 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	88,051,922 - 88,214,780 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	88,051,921 - 88,214,780	NCBI
Celera	5	83,907,023 - 84,092,551 (-)	NCBI		Celera
Cytogenetic Map	5	q14.3	NCBI
HuRef	5	83,218,989 - 83,404,187 (-)	NCBI		HuRef
CHM1_1	5	87,447,103 - 87,632,656 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	89,198,250 - 89,385,215 (-)	NCBI		T2T-CHM13v2.0

Mef2c
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	83,652,136 - 83,815,198 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	83,652,153 - 83,815,199 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	83,504,017 - 83,667,079 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	83,504,034 - 83,667,080 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	83,643,033 - 83,806,684 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	83,981,532 - 84,141,286 (+)	NCBI		MGSCv36	mm8
Celera	13	85,760,645 - 85,921,930 (+)	NCBI		Celera
Cytogenetic Map	13	C3	NCBI
cM Map	13	43.68	NCBI

Mef2c
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	2	13,973,299 - 14,136,065 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	13,993,438 - 14,132,880 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	21,055,034 - 21,197,306 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	2	19,155,243 - 19,297,527 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	2	13,828,879 - 13,971,209 (+)	NCBI	Rnor_WKY
Rnor_6.0	2	11,658,534 - 11,822,788 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	11,658,568 - 11,822,787 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	11,521,053 - 11,684,949 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	12,331,078 - 12,346,520 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	2	10,288,159 - 10,449,731 (+)	NCBI		Celera
Cytogenetic Map	2	q11	NCBI

Mef2c
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955418	22,537,285 - 22,701,434 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955418	22,537,388 - 22,701,434 (+)	NCBI	ChiLan1.0	ChiLan1.0

MEF2C
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	5	26,620,837 - 26,786,426 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	26,681,700 - 26,786,426 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	5	26,480,489 - 26,650,813 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

MEF2C
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	19,778,997 - 19,948,203 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	19,779,007 - 19,943,852 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	21,145,574 - 21,314,826 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	19,687,661 - 19,856,893 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	19,687,680 - 19,856,891 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	19,665,907 - 19,834,881 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	19,629,618 - 19,798,838 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	19,916,077 - 20,085,117 (+)	NCBI		UU_Cfam_GSD_1.0

Mef2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	175,400,303 - 175,565,279 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936469	7,060,480 - 7,204,661 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936469	7,060,480 - 7,225,497 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MEF2C
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	96,124,168 - 96,296,810 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	96,122,407 - 96,296,927 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	98,794,388 - 98,885,272 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MEF2C
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	4	82,702,378 - 82,887,491 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	82,706,738 - 82,788,152 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666049	31,746,488 - 31,916,073 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mef2c
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624743	8,072,673 - 8,235,252 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624743	8,072,871 - 8,235,174 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MEF2C
390 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002397.5(MEF2C):c.447G>C (p.Val149=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000528675]	Chr5:88751999 [GRCh38] Chr5:88047816 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000551180]	Chr5:88823768 [GRCh38] Chr5:88119585 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter)	duplication	Intellectual disability, autosomal dominant 20 [RCV000033230]	Chr5:88804756..88804757 [GRCh38] Chr5:88100573..88100574 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.458del (p.Asn153fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV000033232]	Chr5:88751988 [GRCh38] Chr5:88047805 [GRCh37] Chr5:5q14.3	pathogenic
NC_000005.9:g.88142510_88347193del204684insG	indel	Intellectual disability, autosomal dominant 20 [RCV000735228]	Chr5:88846693..89051376 [GRCh38] Chr5:88142510..88347193 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.258+2T>G	single nucleotide variant	not provided [RCV000519354]	Chr5:88804596 [GRCh38] Chr5:88100413 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.252C>T (p.Ile84=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001454128]\|not provided [RCV000576175]	Chr5:88804604 [GRCh38] Chr5:88100421 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)	single nucleotide variant	Inborn genetic diseases [RCV002315875]\|Intellectual disability, autosomal dominant 20 [RCV000576232]\|not provided [RCV001619798]\|not specified [RCV000728150]	Chr5:88804676 [GRCh38] Chr5:88100493 [GRCh37] Chr5:5q14.3	benign\|likely benign
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs)	indel	Intellectual disability, autosomal dominant 20 [RCV000576280]	Chr5:88749081..88749093 [GRCh38] Chr5:88044898..88044910 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000009503]	Chr5:88731856 [GRCh38] Chr5:88027673 [GRCh37] Chr5:5q14.3	pathogenic
NM_001131005.2(MEF2C):c.397-2990G>T	single nucleotide variant	Lung cancer [RCV000096270]	Chr5:88755033 [GRCh38] Chr5:88050850 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.258+17255G>C	single nucleotide variant	Lung cancer [RCV000096271]	Chr5:88787343 [GRCh38] Chr5:88083160 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.258+17234C>T	single nucleotide variant	Lung cancer [RCV000096272]	Chr5:88787364 [GRCh38] Chr5:88083181 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-142-19398A>T	single nucleotide variant	Lung cancer [RCV000096273]	Chr5:88843328 [GRCh38] Chr5:88139145 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000033229]	Chr5:88804743 [GRCh38] Chr5:88100560 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000033231]	Chr5:88804776 [GRCh38] Chr5:88100593 [GRCh37] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	copy number loss	See cases [RCV000050945]	Chr5:87376883..101524443 [GRCh38] Chr5:86672700..100860147 [GRCh37] Chr5:86708456..100888046 [NCBI36] Chr5:5q14.3-21.1	pathogenic
GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1	copy number loss	See cases [RCV000051010]	Chr5:85876480..88958682 [GRCh38] Chr5:85172298..88254499 [GRCh37] Chr5:85208054..88290255 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	copy number gain	See cases [RCV000051839]	Chr5:74163186..110809453 [GRCh38] Chr5:73459011..110145153 [GRCh37] Chr5:73494767..110173052 [NCBI36] Chr5:5q13.3-22.1	pathogenic
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	copy number gain	See cases [RCV000051840]	Chr5:87124838..93383020 [GRCh38] Chr5:86420655..92718726 [GRCh37] Chr5:86456411..92744482 [NCBI36] Chr5:5q14.3-15	pathogenic
GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1	copy number loss	See cases [RCV000053475]	Chr5:86343721..88779835 [GRCh38] Chr5:85639539..88075652 [GRCh37] Chr5:85675295..88111408 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	copy number loss	See cases [RCV000053477]	Chr5:86743723..92337264 [GRCh38] Chr5:86039540..91633081 [GRCh37] Chr5:86075296..91668837 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:88720397-89487275)x1	copy number loss	See cases [RCV000053478]	Chr5:88720397..89487275 [GRCh38] Chr5:88016214..88783092 [GRCh37] Chr5:88051970..88818848 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:88854849-89268660)x1	copy number loss	See cases [RCV000053479]	Chr5:88854849..89268660 [GRCh38] Chr5:88150666..88564477 [GRCh37] Chr5:88186422..88600233 [NCBI36] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro)	single nucleotide variant	not provided [RCV000658068]	Chr5:88804620 [GRCh38] Chr5:88100437 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000146363]\|not provided [RCV000723585]	Chr5:88751861 [GRCh38] Chr5:88047678 [GRCh37] Chr5:5q14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.312C>T (p.Asp104=)	single nucleotide variant	Inborn genetic diseases [RCV002321612]\|Intellectual disability, autosomal dominant 20 [RCV001503586]\|not provided [RCV000548141]\|not specified [RCV000126732]	Chr5:88761275 [GRCh38] Chr5:88057092 [GRCh37] Chr5:5q14.3	benign\|likely benign
NM_002397.5(MEF2C):c.642C>T (p.Asn214=)	single nucleotide variant	Inborn genetic diseases [RCV002362766]\|Intellectual disability, autosomal dominant 20 [RCV000576205]\|not specified [RCV000126733]	Chr5:88731897 [GRCh38] Chr5:88027714 [GRCh37] Chr5:5q14.3	benign\|likely benign\|uncertain significance
NM_002397.5(MEF2C):c.811-12G>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002055674]\|not specified [RCV000126734]	Chr5:88730246 [GRCh38] Chr5:88026063 [GRCh37] Chr5:5q14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.834+15C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002055675]\|not specified [RCV000126735]	Chr5:88730196 [GRCh38] Chr5:88026013 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001332879]	Chr5:88722707 [GRCh38] Chr5:88018524 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001348601]	Chr5:88751968 [GRCh38] Chr5:88047785 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000146361]	Chr5:88722623 [GRCh38] Chr5:88018440 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)	single nucleotide variant	Inborn genetic diseases [RCV002345453]\|Intellectual disability, autosomal dominant 20 [RCV000146362]\|not provided [RCV000578993]	Chr5:88751881 [GRCh38] Chr5:88047698 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.5(MEF2C):c.810+10A>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001460773]\|not specified [RCV000146365]	Chr5:88731719 [GRCh38] Chr5:88027536 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)	deletion	Intellectual disability, autosomal dominant 20 [RCV000146367]\|not provided [RCV000255477]	Chr5:88730212 [GRCh38] Chr5:88026029 [GRCh37] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1	copy number loss	See cases [RCV000135748]	Chr5:85966055..101335711 [GRCh38] Chr5:85261873..100671415 [GRCh37] Chr5:85297629..100699314 [NCBI36] Chr5:5q14.3-21.1	pathogenic
GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1	copy number loss	See cases [RCV000135596]	Chr5:87191898..89957449 [GRCh38] Chr5:86487715..89253266 [GRCh37] Chr5:86523471..89289022 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:88766680-89732281)x1	copy number loss	See cases [RCV000136078]	Chr5:88766680..89732281 [GRCh38] Chr5:88062497..89028098 [GRCh37] Chr5:88098253..89063854 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	copy number gain	See cases [RCV000136732]	Chr5:88197732..93193163 [GRCh38] Chr5:87493549..92528869 [GRCh37] Chr5:87529305..92554625 [NCBI36] Chr5:5q14.3-15	pathogenic
GRCh38/hg38 5q14.3(chr5:88766676-88808855)x1	copy number loss	See cases [RCV000138231]	Chr5:88766676..88808855 [GRCh38] Chr5:88062493..88104672 [GRCh37] Chr5:88098249..88140428 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:88744060-88749622)x1	copy number loss	See cases [RCV000139230]	Chr5:88744060..88749622 [GRCh38] Chr5:88039877..88045439 [GRCh37] Chr5:88075633..88081195 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	copy number loss	See cases [RCV000139656]	Chr5:84603580..111435081 [GRCh38] Chr5:83899398..110770779 [GRCh37] Chr5:83935154..110798678 [NCBI36] Chr5:5q14.3-22.1	pathogenic
GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	copy number loss	See cases [RCV000141419]	Chr5:86766959..92148845 [GRCh38] Chr5:86062776..91444662 [GRCh37] Chr5:86098532..91480418 [NCBI36] Chr5:5q14.3	pathogenic
GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	copy number loss	See cases [RCV000140963]	Chr5:88368289..92363231 [GRCh38] Chr5:87664106..91698938 [GRCh37] Chr5:87699862..91724694 [NCBI36] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.926dup (p.Gly310fs)	duplication	not provided [RCV000153485]	Chr5:88729255..88729256 [GRCh38] Chr5:88025072..88025073 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000866543]\|not provided [RCV001704849]\|not specified [RCV000188131]	Chr5:88761224 [GRCh38] Chr5:88057041 [GRCh37] Chr5:5q14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002056996]\|not provided [RCV000725072]\|not specified [RCV000194560]	Chr5:88722819 [GRCh38] Chr5:88018636 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001460086]\|not provided [RCV000178863]	Chr5:88751957 [GRCh38] Chr5:88047774 [GRCh37] Chr5:5q14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000648314]\|not provided [RCV000179847]	Chr5:88731780 [GRCh38] Chr5:88027597 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg)	single nucleotide variant	not provided [RCV000177153]	Chr5:88804735 [GRCh38] Chr5:88100552 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4481T>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000264630]	Chr5:88883021 [GRCh38] Chr5:88178838 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000192846]\|not provided [RCV000254756]	Chr5:88823787 [GRCh38] Chr5:88119604 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000191104]	Chr5:88804788 [GRCh38] Chr5:88100605 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001340866]\|not specified [RCV000193723]	Chr5:88728572 [GRCh38] Chr5:88024389 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.4(MEF2C):c.743T>C (p.Met248Thr)	single nucleotide variant	not specified [RCV000188136]	Chr5:88731796 [GRCh38] Chr5:88027613 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002472269]	Chr5:88804598 [GRCh38] Chr5:88100415 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.4(MEF2C):c.523C>T (p.Pro175Ser)	single nucleotide variant	not provided [RCV000188141]	Chr5:88751923 [GRCh38] Chr5:88047740 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)	single nucleotide variant	Inborn genetic diseases [RCV002372149]\|Intellectual disability, autosomal dominant 20 [RCV000576225]\|not provided [RCV000767165]\|not specified [RCV000188143]	Chr5:88728613 [GRCh38] Chr5:88024430 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001515418]\|not provided [RCV000188144]	Chr5:88728564 [GRCh38] Chr5:88024381 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)	single nucleotide variant	Autism spectrum disorder [RCV001291376]\|not provided [RCV000188145]	Chr5:88823746 [GRCh38] Chr5:88119563 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.5(MEF2C):c.115T>C (p.Cys39Arg)	single nucleotide variant	not provided [RCV000188146]	Chr5:88804741 [GRCh38] Chr5:88100558 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.177C>A (p.Ser59Arg)	single nucleotide variant	not specified [RCV000188147]	Chr5:88804679 [GRCh38] Chr5:88100496 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.97_99dupTAT (p.Tyr33_Glu34insTyr)	duplication	not specified [RCV000188148]	Chr5:88804757..88804759 [GRCh38] Chr5:88100574..88100576 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.120_125dup (p.Asp40_Cys41dup)	duplication	not specified [RCV000188149]	Chr5:88804730..88804731 [GRCh38] Chr5:88100547..88100548 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)	single nucleotide variant	5q14.3 microdeletion syndrome [RCV001813767]\|Autism spectrum disorder [RCV000754665]\|Intellectual disability [RCV001257689]\|Intellectual disability, autosomal dominant 20 [RCV001852474]	Chr5:88731773 [GRCh38] Chr5:88027590 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.4(MEF2C):c.1363G>C (p.Asp455His)	single nucleotide variant	not specified [RCV000188152]	Chr5:88722663 [GRCh38] Chr5:88018480 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000678390]	Chr5:88823786 [GRCh38] Chr5:88119603 [GRCh37] Chr5:5q14.3	pathogenic\|conflicting interpretations of pathogenicity
NM_002397.5(MEF2C):c.402+153dup	duplication	not specified [RCV000188154]	Chr5:88761031..88761032 [GRCh38] Chr5:88056848..88056849 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.811-13C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002056971]\|not specified [RCV000188137]	Chr5:88730247 [GRCh38] Chr5:88026064 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.*16C>G	single nucleotide variant	not specified [RCV000188138]	Chr5:88722588 [GRCh38] Chr5:88018405 [GRCh37] Chr5:5q14.3	benign\|likely benign
NM_002397.5(MEF2C):c.-42T>C	single nucleotide variant	not specified [RCV000188139]	Chr5:88823830 [GRCh38] Chr5:88119647 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000798033]\|not provided [RCV000188142]	Chr5:88731809 [GRCh38] Chr5:88027626 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000209864]	Chr5:88804785 [GRCh38] Chr5:88100602 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000223956]	Chr5:88823780 [GRCh38] Chr5:88119597 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.780A>G (p.Pro260=)	single nucleotide variant	Inborn genetic diseases [RCV002315917]\|Intellectual disability, autosomal dominant 20 [RCV001451252]\|not specified [RCV000599764]	Chr5:88731759 [GRCh38] Chr5:88027576 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)	single nucleotide variant	Inborn genetic diseases [RCV000622665]	Chr5:88804743 [GRCh38] Chr5:88100560 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.214del (p.Tyr72fs)	deletion	Inborn genetic diseases [RCV000623417]	Chr5:88804642 [GRCh38] Chr5:88100459 [GRCh37] Chr5:5q14.3	pathogenic
NM_001131005.2(MEF2C):c.474T>C (p.Pro158=)	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000281586]	Chr5:88751966 [GRCh38] Chr5:88047783 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*1816del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000269394]	Chr5:88720788 [GRCh38] Chr5:88016605 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88018116-88183698)x1	copy number loss	See cases [RCV000240596]	Chr5:88018116..88183698 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.*115del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000266033]	Chr5:88722489 [GRCh38] Chr5:88018306 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2979C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000275789]	Chr5:88719625 [GRCh38] Chr5:88015442 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5q14.3(chr5:88056500-88183698)x1	copy number loss	See cases [RCV000240554]	Chr5:88056500..88183698 [GRCh37] Chr5:5q14.3	pathogenic
NM_001131005.2(MEF2C):c.*2367A>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000397095]	Chr5:88720237 [GRCh38] Chr5:88016054 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.-19G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000352841]	Chr5:88823807 [GRCh38] Chr5:88119624 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*3219A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000399134]	Chr5:88719385 [GRCh38] Chr5:88015202 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*3200C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000301165]	Chr5:88719404 [GRCh38] Chr5:88015221 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2390C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000334665]	Chr5:88720214 [GRCh38] Chr5:88016031 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*2717G>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000377772]	Chr5:88719887 [GRCh38] Chr5:88015704 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*3666C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000398003]	Chr5:88718938 [GRCh38] Chr5:88014755 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*4136G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000288388]	Chr5:88718468 [GRCh38] Chr5:88014285 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.-450dup	duplication	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000375706]\|not provided [RCV001712156]	Chr5:88883253..88883254 [GRCh38] Chr5:88179070..88179071 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_001131005.2(MEF2C):c.*3127G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000274817]	Chr5:88719477 [GRCh38] Chr5:88015294 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.31_32del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000380444]	Chr5:88722572..88722573 [GRCh38] Chr5:88018389..88018390 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2876T>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000380721]	Chr5:88719728 [GRCh38] Chr5:88015545 [GRCh37] Chr5:5q14.3	benign
NM_001131005.2(MEF2C):c.*3298T>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000354910]	Chr5:88719306 [GRCh38] Chr5:88015123 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*3142A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000355562]	Chr5:88719462 [GRCh38] Chr5:88015279 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.-17G>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000293173]	Chr5:88823805 [GRCh38] Chr5:88119622 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.258+10C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001034492]\|not specified [RCV000437535]	Chr5:88804588 [GRCh38] Chr5:88100405 [GRCh37] Chr5:5q14.3	benign\|likely benign\|uncertain significance
NM_002397.5(MEF2C):c.-91_-89del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000308313]	Chr5:88823877..88823879 [GRCh38] Chr5:88119694..88119696 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*806A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000365193]	Chr5:88721798 [GRCh38] Chr5:88017615 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.-143+4177C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000389134]	Chr5:88883325 [GRCh38] Chr5:88179142 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*2353A>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000312788]	Chr5:88720251 [GRCh38] Chr5:88016068 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*2413T>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000279558]	Chr5:88720191 [GRCh38] Chr5:88016008 [GRCh37] Chr5:5q14.3	benign
NM_001131005.2(MEF2C):c.-143+4280A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000360441]	Chr5:88883222 [GRCh38] Chr5:88179039 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*1337A>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000310566]	Chr5:88721267 [GRCh38] Chr5:88017084 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*3842T>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000348069]	Chr5:88718762 [GRCh38] Chr5:88014579 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.*3046G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000329963]	Chr5:88719558 [GRCh38] Chr5:88015375 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.861G>A (p.Ser287=)	single nucleotide variant	Inborn genetic diseases [RCV002374598]\|Intellectual disability, autosomal dominant 20 [RCV002058544]\|not provided [RCV000868591]\|not specified [RCV000610411]	Chr5:88729321 [GRCh38] Chr5:88025138 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_001131005.2(MEF2C):c.*3583A>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000339570]	Chr5:88719021 [GRCh38] Chr5:88014838 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*2049T>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000364044]	Chr5:88720555 [GRCh38] Chr5:88016372 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4240C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000329906]	Chr5:88883262 [GRCh38] Chr5:88179079 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.*2678C>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000342915]	Chr5:88719926 [GRCh38] Chr5:88015743 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4483C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000393441]	Chr5:88883019 [GRCh38] Chr5:88178836 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1332C>T (p.His444=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001480397]\|not provided [RCV000726386]\|not specified [RCV000270167]	Chr5:88722694 [GRCh38] Chr5:88018511 [GRCh37] Chr5:5q14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001131005.2(MEF2C):c.-143+4279C>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000261139]	Chr5:88883223 [GRCh38] Chr5:88179040 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4127G>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000283193]	Chr5:88883375 [GRCh38] Chr5:88179192 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2700T>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000283279]	Chr5:88719904 [GRCh38] Chr5:88015721 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.-548_-546CTC[8]	microsatellite	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000326208]\|not provided [RCV002275026]	Chr5:88883337..88883338 [GRCh38] Chr5:88179154..88179155 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.4(MEF2C):c.-450delC	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000262435]	Chr5:88883254 [GRCh38] Chr5:88179071 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.*2267dup	duplication	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000348923]	Chr5:88720336..88720337 [GRCh38] Chr5:88016153..88016154 [GRCh37] Chr5:5q14.3	benign
NM_002397.4(MEF2C):c.-548_-546CTC[9]	microsatellite	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000380817]	Chr5:88883337..88883338 [GRCh38] Chr5:88179154..88179155 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.2266_2267dup	duplication	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000397122]	Chr5:88720336..88720337 [GRCh38] Chr5:88016153..88016154 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.3(chr5:88065061-88406446)	copy number loss	Intellectual disability, autosomal dominant 20 [RCV002280749]	Chr5:88065061..88406446 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.258+1G>T	single nucleotide variant	not provided [RCV000487816]	Chr5:88804597 [GRCh38] Chr5:88100414 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002072020]\|not provided [RCV001548371]	Chr5:88722727 [GRCh38] Chr5:88018544 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC	deletion	Frontotemporal dementia [RCV000490370]	Chr5:88883309..88883322 [GRCh38] Chr5:88179126..88179139 [GRCh37] Chr5:5q14.3	likely pathogenic
NC_000005.9:g.(?_88625195)_(90796047_?)inv	inversion	Intellectual disability, autosomal dominant 20 [RCV002286878]	Chr5:88625195..90796047 [GRCh37] Chr5:5q14.3	pathogenic
NM_001131005.2(MEF2C):c.-143+4165T>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000291066]	Chr5:88883337 [GRCh38] Chr5:88179154 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.-548_-546CTC[6]	microsatellite	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000345896]	Chr5:88883338..88883340 [GRCh38] Chr5:88179155..88179157 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4276A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000316363]	Chr5:88883226 [GRCh38] Chr5:88179043 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*4149A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000382709]	Chr5:88718455 [GRCh38] Chr5:88014272 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.*3387A>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000304736]	Chr5:88719217 [GRCh38] Chr5:88015034 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4297A>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000305676]	Chr5:88883205 [GRCh38] Chr5:88179022 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4168C>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000294692]	Chr5:88883334 [GRCh38] Chr5:88179151 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*3606G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000284591]	Chr5:88718998 [GRCh38] Chr5:88014815 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.-208del	deletion	Frontotemporal dementia [RCV000490443]\|Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000359333]\|not specified [RCV000490253]	Chr5:88883020 [GRCh38] Chr5:88178837 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.51_55del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000321162]	Chr5:88722549..88722553 [GRCh38] Chr5:88018366..88018370 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.*3045C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000370648]	Chr5:88719559 [GRCh38] Chr5:88015376 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.-208dup	duplication	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000309606]	Chr5:88883019..88883020 [GRCh38] Chr5:88178836..88178837 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.2877_2878dup	duplication	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000326152]	Chr5:88719725..88719726 [GRCh38] Chr5:88015542..88015543 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2730A>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000327781]	Chr5:88719874 [GRCh38] Chr5:88015691 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2771T>G	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000290992]	Chr5:88719833 [GRCh38] Chr5:88015650 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.*2267del	deletion	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000313856]	Chr5:88720337 [GRCh38] Chr5:88016154 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-143+4497C>T	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000344508]	Chr5:88883005 [GRCh38] Chr5:88178822 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*2639G>C	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000378673]	Chr5:88719965 [GRCh38] Chr5:88015782 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.*3582G>A	single nucleotide variant	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000397964]	Chr5:88719022 [GRCh38] Chr5:88014839 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1375A>G (p.Ser459Gly)	single nucleotide variant	not specified [RCV000600963]	Chr5:88722651 [GRCh38] Chr5:88018468 [GRCh37] Chr5:5q14.3	likely benign
NC_000005.10:g.(?_88823715)_(88823808_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV000552952]	Chr5:88823715..88823808 [GRCh38] Chr5:88119532..88119625 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.638-2A>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000578456]	Chr5:88731903 [GRCh38] Chr5:88027720 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.609C>T (p.Asp203=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001436508]\|not provided [RCV000591530]	Chr5:88749098 [GRCh38] Chr5:88044915 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.93G>T (p.Lys31Asn)	single nucleotide variant	not specified [RCV000414651]	Chr5:88804763 [GRCh38] Chr5:88100580 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile)	single nucleotide variant	Epilepsy [RCV000415447]	Chr5:88804704 [GRCh38] Chr5:88100521 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000535043]	Chr5:88722695 [GRCh38] Chr5:88018512 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.589+6T>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000557536]	Chr5:88751851 [GRCh38] Chr5:88047668 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.3(chr5:86530415-88893604)x1	copy number loss	See cases [RCV000446445]	Chr5:86530415..88893604 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.402+104C>T	single nucleotide variant	not provided [RCV001718846]	Chr5:88761081 [GRCh38] Chr5:88056898 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.225G>T (p.Pro75=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001401192]\|not provided [RCV001721441]	Chr5:88804631 [GRCh38] Chr5:88100448 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.132G>A (p.Ala44=)	single nucleotide variant	not specified [RCV000435164]	Chr5:88804724 [GRCh38] Chr5:88100541 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_002397.5(MEF2C):c.261G>A (p.Thr87=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000870024]\|not provided [RCV001703629]	Chr5:88761326 [GRCh38] Chr5:88057143 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.100G>T (p.Glu34Ter)	single nucleotide variant	not provided [RCV000418485]	Chr5:88804756 [GRCh38] Chr5:88100573 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.811-9T>G	single nucleotide variant	not provided [RCV000423248]	Chr5:88730243 [GRCh38] Chr5:88026060 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.615G>A (p.Thr205=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000648312]\|not specified [RCV000432130]	Chr5:88749092 [GRCh38] Chr5:88044909 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val)	single nucleotide variant	Inborn genetic diseases [RCV002323598]\|Intellectual disability, autosomal dominant 20 [RCV001861501]\|not provided [RCV000419451]	Chr5:88761279 [GRCh38] Chr5:88057096 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.258+7G>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001405868]\|not provided [RCV000648313]\|not specified [RCV000425692]	Chr5:88804591 [GRCh38] Chr5:88100408 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.871T>C (p.Leu291=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001424164]\|not specified [RCV000432768]	Chr5:88729311 [GRCh38] Chr5:88025128 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.834+16G>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002063637]\|not specified [RCV000439685]	Chr5:88730195 [GRCh38] Chr5:88026012 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.72G>A (p.Arg24=)	single nucleotide variant	not specified [RCV000425974]	Chr5:88804784 [GRCh38] Chr5:88100601 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.402+18C>T	single nucleotide variant	not specified [RCV000429677]	Chr5:88761167 [GRCh38] Chr5:88056984 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.-43A>T	single nucleotide variant	not specified [RCV000433640]	Chr5:88823831 [GRCh38] Chr5:88119648 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.527C>A (p.Ser176Tyr)	single nucleotide variant	not specified [RCV000437126]	Chr5:88751919 [GRCh38] Chr5:88047736 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.402+75G>T	single nucleotide variant	not specified [RCV000420294]	Chr5:88761110 [GRCh38] Chr5:88056927 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1086C>A (p.Ala362=)	single nucleotide variant	not specified [RCV000426953]	Chr5:88728507 [GRCh38] Chr5:88024324 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.860C>A (p.Ser287Ter)	single nucleotide variant	not provided [RCV000481686]	Chr5:88729322 [GRCh38] Chr5:88025139 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs)	duplication	not provided [RCV000481751]	Chr5:88751878..88751879 [GRCh38] Chr5:88047695..88047696 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.941C>G (p.Ala314Gly)	single nucleotide variant	not provided [RCV000486123]	Chr5:88729241 [GRCh38] Chr5:88025058 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.965-6_965-2del	deletion	Intellectual disability, autosomal dominant 20 [RCV002063771]\|not specified [RCV000478427]	Chr5:88728630..88728634 [GRCh38] Chr5:88024447..88024451 [GRCh37] Chr5:5q14.3	benign\|likely benign
NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys)	single nucleotide variant	not provided [RCV000479668]	Chr5:88722825 [GRCh38] Chr5:88018642 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.637+2T>C	single nucleotide variant	not provided [RCV000487371]	Chr5:88749068 [GRCh38] Chr5:88044885 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)	microsatellite	Intellectual disability, autosomal dominant 20 [RCV001071342]\|MEF2C-Related Disorder [RCV000509200]\|not provided [RCV000498824]	Chr5:88823735..88823738 [GRCh38] Chr5:88119552..88119555 [GRCh37] Chr5:5q14.3	pathogenic\|not provided
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)	single nucleotide variant	not specified [RCV000502217]	Chr5:88751915 [GRCh38] Chr5:88047732 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q14.3(chr5:87999726-88137439)x1	copy number loss	See cases [RCV000511206]	Chr5:87999726..88137439 [GRCh37] Chr5:5q14.3	pathogenic
GRCh37/hg19 5q14.3(chr5:87764485-90147447)x1	copy number loss	See cases [RCV000511258]	Chr5:87764485..90147447 [GRCh37] Chr5:5q14.3	pathogenic
GRCh37/hg19 5q14.3(chr5:86621337-89204392)x3	copy number gain	See cases [RCV000510982]	Chr5:86621337..89204392 [GRCh37] Chr5:5q14.3	likely pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV002231249]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
NM_002397.5(MEF2C):c.108C>T (p.Ser36=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000558715]	Chr5:88804748 [GRCh38] Chr5:88100565 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser)	single nucleotide variant	Inborn genetic diseases [RCV000624618]	Chr5:88804798 [GRCh38] Chr5:88100615 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.129T>C (p.Ile43=)	single nucleotide variant	not specified [RCV000612930]	Chr5:88804727 [GRCh38] Chr5:88100544 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1392C>T (p.Arg464=)	single nucleotide variant	not specified [RCV000607887]	Chr5:88722634 [GRCh38] Chr5:88018451 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.-143+17T>A	single nucleotide variant	not specified [RCV000610661]	Chr5:88882938 [GRCh38] Chr5:88178755 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.456C>T (p.His152=)	single nucleotide variant	not specified [RCV000610971]	Chr5:88751990 [GRCh38] Chr5:88047807 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.-143+11C>T	single nucleotide variant	not specified [RCV000614492]	Chr5:88882944 [GRCh38] Chr5:88178761 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000648311]	Chr5:88722779 [GRCh38] Chr5:88018596 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer)	microsatellite	Inborn genetic diseases [RCV000623153]	Chr5:88804732..88804733 [GRCh38] Chr5:88100549..88100550 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)	duplication	Neurodevelopmental disorder [RCV001374908]\|not provided [RCV000627395]	Chr5:88823743..88823744 [GRCh38] Chr5:88119560..88119561 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000656084]	Chr5:88729322 [GRCh38] Chr5:88025139 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs)	deletion	not provided [RCV000659017]	Chr5:88823775..88823776 [GRCh38] Chr5:88119592..88119593 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.-1T>C	single nucleotide variant	not provided [RCV000658415]	Chr5:88823789 [GRCh38] Chr5:88119606 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.800T>C (p.Met267Thr)	single nucleotide variant	Inborn genetic diseases [RCV002316756]	Chr5:88731739 [GRCh38] Chr5:88027556 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3	copy number gain	not provided [RCV000682576]	Chr5:87399001..92675748 [GRCh37] Chr5:5q14.3-15	likely pathogenic
NM_002397.5(MEF2C):c.544A>G (p.Met182Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000693696]	Chr5:88751902 [GRCh38] Chr5:88047719 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000691389]	Chr5:88823788 [GRCh38] Chr5:88119605 [GRCh37] Chr5:5q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.780dup (p.Pro261fs)	duplication	Intellectual disability, autosomal dominant 20 [RCV000691890]	Chr5:88731758..88731759 [GRCh38] Chr5:88027575..88027576 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000698332]	Chr5:88752006 [GRCh38] Chr5:88047823 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.261G>T (p.Thr87=)	single nucleotide variant	Inborn genetic diseases [RCV002313589]	Chr5:88761326 [GRCh38] Chr5:88057143 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.401_402+2del	microsatellite	Inborn genetic diseases [RCV002317557]	Chr5:88761183..88761186 [GRCh38] Chr5:88057000..88057003 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.300C>T (p.Asp100=)	single nucleotide variant	Inborn genetic diseases [RCV002318291]	Chr5:88761287 [GRCh38] Chr5:88057104 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter)	single nucleotide variant	not provided [RCV001565438]	Chr5:88722733 [GRCh38] Chr5:88018550 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_002397.5(MEF2C):c.403-1G>T	single nucleotide variant	Autism spectrum disorder [RCV000754666]	Chr5:88752044 [GRCh38] Chr5:88047861 [GRCh37] Chr5:5q14.3	pathogenic
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1	copy number loss	not provided [RCV000744913]	Chr5:87512314..95096562 [GRCh37] Chr5:5q14.3-15	pathogenic
GRCh37/hg19 5q14.3(chr5:88079010-88297500)x3	copy number gain	not provided [RCV000744914]	Chr5:88079010..88297500 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.3(chr5:88097312-88197506)x3	copy number gain	not provided [RCV000744915]	Chr5:88097312..88197506 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88103597-88226422)x3	copy number gain	not provided [RCV000744916]	Chr5:88103597..88226422 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88105838-88119403)x1	copy number loss	not provided [RCV000744917]	Chr5:88105838..88119403 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88162245-88177599)x1	copy number loss	not provided [RCV000744918]	Chr5:88162245..88177599 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88169558-88176878)x1	copy number loss	not provided [RCV000744919]	Chr5:88169558..88176878 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88193159-88218797)x3	copy number gain	not provided [RCV000744920]	Chr5:88193159..88218797 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88193901-88218797)x3	copy number gain	not provided [RCV000744921]	Chr5:88193901..88218797 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88193901-88223420)x4	copy number gain	not provided [RCV000744922]	Chr5:88193901..88223420 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88196003-88199586)x3	copy number gain	not provided [RCV000744923]	Chr5:88196003..88199586 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88196003-88218797)x3	copy number gain	not provided [RCV000744924]	Chr5:88196003..88218797 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88196003-88223420)x4	copy number gain	not provided [RCV000744925]	Chr5:88196003..88223420 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88197506-88218797)x4	copy number gain	not provided [RCV000744926]	Chr5:88197506..88218797 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88197595-88226422)x4	copy number gain	not provided [RCV000744927]	Chr5:88197595..88226422 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.402+71G>A	single nucleotide variant	not provided [RCV001584021]	Chr5:88761114 [GRCh38] Chr5:88056931 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.709C>T (p.Gln237Ter)	single nucleotide variant	not provided [RCV000760934]	Chr5:88731830 [GRCh38] Chr5:88027647 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu)	single nucleotide variant	not provided [RCV000762148]	Chr5:88722611 [GRCh38] Chr5:88018428 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.14del (p.Lys5fs)	deletion	not provided [RCV000762149]	Chr5:88823775 [GRCh38] Chr5:88119592 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000760219]\|not provided [RCV001592945]	Chr5:88823745 [GRCh38] Chr5:88119562 [GRCh37] Chr5:5q14.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_002397.5(MEF2C):c.106A>G (p.Ser36Gly)	single nucleotide variant	not provided [RCV001576604]	Chr5:88804750 [GRCh38] Chr5:88100567 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.965-11C>T	single nucleotide variant	not provided [RCV001583475]	Chr5:88728639 [GRCh38] Chr5:88024456 [GRCh37] Chr5:5q14.3	likely benign
NC_000005.10:g.(?_88804588)_(88884466_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001032127]	Chr5:88100405..88180283 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.822C>T (p.Val274=)	single nucleotide variant	Inborn genetic diseases [RCV002427127]\|Intellectual disability, autosomal dominant 20 [RCV000865846]	Chr5:88730223 [GRCh38] Chr5:88026040 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.397T>C (p.Leu133=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000916069]	Chr5:88761190 [GRCh38] Chr5:88057007 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup)	duplication	Intellectual disability, autosomal dominant 20 [RCV001062377]	Chr5:88722722..88722723 [GRCh38] Chr5:88018539..88018540 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001058915]	Chr5:88804798 [GRCh38] Chr5:88100615 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.988del (p.Leu330fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV001059842]	Chr5:88728605 [GRCh38] Chr5:88024422 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.810+268C>T	single nucleotide variant	not provided [RCV000827991]	Chr5:88731461 [GRCh38] Chr5:88027278 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.204G>A (p.Lys68=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001435927]\|not provided [RCV000940077]	Chr5:88804652 [GRCh38] Chr5:88100469 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.403-8T>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001487177]\|not provided [RCV000944756]	Chr5:88752051 [GRCh38] Chr5:88047868 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.318C>T (p.Ser106=)	single nucleotide variant	not provided [RCV000862096]	Chr5:88761269 [GRCh38] Chr5:88057086 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.423C>T (p.Phe141=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000979618]	Chr5:88752023 [GRCh38] Chr5:88047840 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001496637]\|not provided [RCV000951837]	Chr5:88722736 [GRCh38] Chr5:88018553 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.637+9A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001458268]\|not provided [RCV000932441]	Chr5:88749061 [GRCh38] Chr5:88044878 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1	copy number loss	not provided [RCV001005699]	Chr5:88054762..88271992 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.908dup (p.Leu303fs)	duplication	Intellectual disability, autosomal dominant 20 [RCV000820312]	Chr5:88729273..88729274 [GRCh38] Chr5:88025090..88025091 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.1101-254C>T	single nucleotide variant	not provided [RCV000831948]	Chr5:88723179 [GRCh38] Chr5:88018996 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.590-95G>T	single nucleotide variant	not provided [RCV000830049]	Chr5:88749212 [GRCh38] Chr5:88045029 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.589+57A>C	single nucleotide variant	not provided [RCV000830096]	Chr5:88751800 [GRCh38] Chr5:88047617 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.192dup (p.Val65fs)	duplication	Intellectual disability, autosomal dominant 20 [RCV000791953]	Chr5:88804663..88804664 [GRCh38] Chr5:88100480..88100481 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.-142-333_-142-332insAG	insertion	not provided [RCV000844549]	Chr5:88824262..88824263 [GRCh38] Chr5:88120079..88120080 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1100+111T>C	single nucleotide variant	not provided [RCV000837207]	Chr5:88728382 [GRCh38] Chr5:88024199 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5q14.3(chr5:83497559-88416354)x1	copy number loss	not provided [RCV000849702]	Chr5:83497559..88416354 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.258+155T>G	single nucleotide variant	not provided [RCV000836474]	Chr5:88804443 [GRCh38] Chr5:88100260 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV000808479]	Chr5:88722641 [GRCh38] Chr5:88018458 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.402+147A>G	single nucleotide variant	MEF2C-related complex neurodevelopmental disorder [RCV001095750]	Chr5:88761038 [GRCh38] Chr5:88056855 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.403-211A>G	single nucleotide variant	not provided [RCV000843308]	Chr5:88752254 [GRCh38] Chr5:88048071 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.403-139A>G	single nucleotide variant	not provided [RCV000843309]	Chr5:88752182 [GRCh38] Chr5:88047999 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.810+199T>A	single nucleotide variant	not provided [RCV000843338]	Chr5:88731530 [GRCh38] Chr5:88027347 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1380C>T (p.Pro460=)	single nucleotide variant	not provided [RCV000873464]	Chr5:88722646 [GRCh38] Chr5:88018463 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.413del (p.Pro138fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV000844906]	Chr5:88752033 [GRCh38] Chr5:88047850 [GRCh37] Chr5:5q14.3	not provided
NM_002397.5(MEF2C):c.411del (p.Pro138fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV000844907]	Chr5:88752035 [GRCh38] Chr5:88047852 [GRCh37] Chr5:5q14.3	not provided
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_002397.5(MEF2C):c.811-267del	deletion	not provided [RCV000833368]	Chr5:88730501 [GRCh38] Chr5:88026318 [GRCh37] Chr5:5q14.3	likely benign
GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3	copy number gain	not provided [RCV000847861]	Chr5:88122457..88197779 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3	copy number gain	not provided [RCV000847622]	Chr5:88062122..88111344 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	copy number gain	not provided [RCV001005683]	Chr5:72790061..97478870 [GRCh37] Chr5:5q13.2-15	pathogenic
NM_002397.5(MEF2C):c.1095G>C (p.Gln365His)	single nucleotide variant	not specified [RCV001002553]	Chr5:88728498 [GRCh38] Chr5:88024315 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001204848]	Chr5:88731788 [GRCh38] Chr5:88027605 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001223651]	Chr5:88751889 [GRCh38] Chr5:88047706 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001214620]	Chr5:88751857 [GRCh38] Chr5:88047674 [GRCh37] Chr5:5q14.3	benign\|uncertain significance
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001226074]	Chr5:88728599 [GRCh38] Chr5:88024416 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.799A>G (p.Met267Val)	single nucleotide variant	not provided [RCV001172160]	Chr5:88731740 [GRCh38] Chr5:88027557 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.-207CT[7]	microsatellite	not provided [RCV001568287]	Chr5:88883004..88883005 [GRCh38] Chr5:88178821..88178822 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.-8C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001685531]\|Neurodevelopmental disorder [RCV001779254]\|not provided [RCV001568454]	Chr5:88823796 [GRCh38] Chr5:88119613 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.965-11C>A	single nucleotide variant	not provided [RCV001550014]	Chr5:88728639 [GRCh38] Chr5:88024456 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001684642]	Chr5:88804636 [GRCh38] Chr5:88100453 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.259-1G>A	single nucleotide variant	not provided [RCV001580844]	Chr5:88761329 [GRCh38] Chr5:88057146 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.402+152A>G	single nucleotide variant	not provided [RCV001556820]	Chr5:88761033 [GRCh38] Chr5:88056850 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.-143+6T>C	single nucleotide variant	not provided [RCV001620448]	Chr5:88887496 [GRCh38] Chr5:88183313 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.811-290T>C	single nucleotide variant	not provided [RCV001652751]	Chr5:88730524 [GRCh38] Chr5:88026341 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr)	single nucleotide variant	Inborn genetic diseases [RCV002337115]\|Intellectual disability, autosomal dominant 20 [RCV001996478]	Chr5:88728578 [GRCh38] Chr5:88024395 [GRCh37] Chr5:5q14.3	likely benign\|uncertain significance
NM_002397.5(MEF2C):c.-143+89A>G	single nucleotide variant	not provided [RCV001609313]	Chr5:88882866 [GRCh38] Chr5:88178683 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001423868]\|not provided [RCV000939133]	Chr5:88728576 [GRCh38] Chr5:88024393 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1053A>G (p.Gln351=)	single nucleotide variant	not provided [RCV000939682]	Chr5:88728540 [GRCh38] Chr5:88024357 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001218643]	Chr5:88731883 [GRCh38] Chr5:88027700 [GRCh37] Chr5:5q14.3	uncertain significance
NC_000005.10:g.(?_88722584)_(88823808_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001033264]	Chr5:88018401..88119625 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.258+1G>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001217453]	Chr5:88804597 [GRCh38] Chr5:88100414 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001224731]	Chr5:88751870 [GRCh38] Chr5:88047687 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001218277]	Chr5:88749115 [GRCh38] Chr5:88044932 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.402+16A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002072981]\|not provided [RCV001641218]	Chr5:88761169 [GRCh38] Chr5:88056986 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.964+23A>G	single nucleotide variant	not provided [RCV001560304]	Chr5:88729195 [GRCh38] Chr5:88025012 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.196C>G (p.Leu66Val)	single nucleotide variant	Seizure [RCV001263271]	Chr5:88804660 [GRCh38] Chr5:88100477 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.728del (p.Pro243fs)	deletion	not provided [RCV001008970]	Chr5:88731811 [GRCh38] Chr5:88027628 [GRCh37] Chr5:5q14.3	pathogenic
GRCh37/hg19 5q14.3(chr5:87611415-89975436)x3	copy number gain	not provided [RCV001005698]	Chr5:87611415..89975436 [GRCh37] Chr5:5q14.3	uncertain significance
NM_001131005.2(MEF2C):c.-239-236T>C	single nucleotide variant	not provided [RCV001655038]	Chr5:88887834 [GRCh38] Chr5:88183651 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.524C>T (p.Pro175Leu)	single nucleotide variant	not provided [RCV001653165]	Chr5:88751922 [GRCh38] Chr5:88047739 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.55-45G>A	single nucleotide variant	not provided [RCV001571921]	Chr5:88804846 [GRCh38] Chr5:88100663 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.402+208A>G	single nucleotide variant	not provided [RCV001674210]	Chr5:88760977 [GRCh38] Chr5:88056794 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.*32del	deletion	not provided [RCV001594560]	Chr5:88722572 [GRCh38] Chr5:88018389 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg)	single nucleotide variant	Epileptic encephalopathy [RCV001003588]	Chr5:88804791 [GRCh38] Chr5:88100608 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001027718]	Chr5:88804662 [GRCh38] Chr5:88100479 [GRCh37] Chr5:5q14.3	likely pathogenic
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	copy number gain	See cases [RCV001007415]	Chr5:87792844..109221844 [GRCh37] Chr5:5q14.3-21.3	likely pathogenic
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001410781]\|not provided [RCV001171851]	Chr5:88728573 [GRCh38] Chr5:88024390 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001533145]	Chr5:88823772 [GRCh38] Chr5:88119589 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.1100+145T>C	single nucleotide variant	not provided [RCV001588129]	Chr5:88728348 [GRCh38] Chr5:88024165 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.4(MEF2C):c.-450_-449dup	duplication	not provided [RCV001588200]	Chr5:88883253..88883254 [GRCh38] Chr5:88179070..88179071 [GRCh37] Chr5:5q14.3	benign\|likely benign
NM_002397.5(MEF2C):c.810+191dup	duplication	not provided [RCV001666716]	Chr5:88731530..88731531 [GRCh38] Chr5:88027347..88027348 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.402+46T>C	single nucleotide variant	not provided [RCV001648757]	Chr5:88761139 [GRCh38] Chr5:88056956 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.834+182del	deletion	not provided [RCV001613991]	Chr5:88730029 [GRCh38] Chr5:88025846 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.798G>A (p.Thr266=)	single nucleotide variant	not provided [RCV001528881]	Chr5:88731741 [GRCh38] Chr5:88027558 [GRCh37] Chr5:5q14.3	likely benign
NM_001131005.2(MEF2C):c.805-887_805-884del	deletion	not provided [RCV001008450]	Chr5:88730231..88730234 [GRCh38] Chr5:88026048..88026051 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.4:c.(?_-1)_(*1_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001250755]	Chr5:5q14.3	pathogenic\|likely pathogenic
NM_002397.5(MEF2C):c.963C>T (p.Thr321=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001034516]	Chr5:88729219 [GRCh38] Chr5:88025036 [GRCh37] Chr5:5q14.3	benign
GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1	copy number loss	not provided [RCV001171978]	Chr5:88119552..88119605 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.965-2A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001196578]	Chr5:88728630 [GRCh38] Chr5:88024447 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001215094]	Chr5:88731772 [GRCh38] Chr5:88027589 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001204890]	Chr5:88804725 [GRCh38] Chr5:88100542 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001203899]	Chr5:88804719 [GRCh38] Chr5:88100536 [GRCh37] Chr5:5q14.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001253802]	Chr5:88751914 [GRCh38] Chr5:88047731 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001253221]	Chr5:88804679 [GRCh38] Chr5:88100496 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001253303]	Chr5:88731881 [GRCh38] Chr5:88027698 [GRCh37] Chr5:5q14.3	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1	copy number loss	not provided [RCV001259336]	Chr5:88041931..88078617 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001294820]	Chr5:88761307 [GRCh38] Chr5:88057124 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.54+173A>G	single nucleotide variant	not provided [RCV001581294]	Chr5:88823562 [GRCh38] Chr5:88119379 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001262292]	Chr5:88804746 [GRCh38] Chr5:88100563 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.810+1G>A	single nucleotide variant	Intellectual disability [RCV001257691]	Chr5:88731728 [GRCh38] Chr5:88027545 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)	single nucleotide variant	Intellectual disability [RCV001257690]	Chr5:88722606 [GRCh38] Chr5:88018423 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.402+145A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001262291]	Chr5:88761040 [GRCh38] Chr5:88056857 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.773T>A (p.Leu258His)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001314325]	Chr5:88731766 [GRCh38] Chr5:88027583 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001299508]	Chr5:88761268 [GRCh38] Chr5:88057085 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.768A>G (p.Arg256=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001392327]	Chr5:88731771 [GRCh38] Chr5:88027588 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.645G>A (p.Gly215=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001433798]	Chr5:88731894 [GRCh38] Chr5:88027711 [GRCh37] Chr5:5q14.3	likely benign
NC_000005.9:g.(?_87776690)_(88119605_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001382343]	Chr5:87776690..88119605 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.1041A>C (p.Val347=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001414682]	Chr5:88728552 [GRCh38] Chr5:88024369 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.559dup (p.Thr187fs)	duplication	Intellectual disability, autosomal dominant 20 [RCV001382959]	Chr5:88751886..88751887 [GRCh38] Chr5:88047703..88047704 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs)	insertion	Intellectual disability, autosomal dominant 20 [RCV001371861]	Chr5:88749080..88749081 [GRCh38] Chr5:88044897..88044898 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.34A>G (p.Met12Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001296853]\|not provided [RCV001785807]	Chr5:88823755 [GRCh38] Chr5:88119572 [GRCh37] Chr5:5q14.3	uncertain significance
NC_000005.9:g.(?_87976333)_88057095del	deletion	Intellectual disability, autosomal dominant 20 [RCV001343838]		uncertain significance
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001324142]\|not provided [RCV002291747]	Chr5:88722898 [GRCh38] Chr5:88018715 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001318909]\|not provided [RCV001751612]	Chr5:88761241 [GRCh38] Chr5:88057058 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001368792]	Chr5:88804797 [GRCh38] Chr5:88100614 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001362485]	Chr5:88722644 [GRCh38] Chr5:88018461 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001395609]	Chr5:88722727 [GRCh38] Chr5:88018544 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.811-5C>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001349209]	Chr5:88730239 [GRCh38] Chr5:88026056 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001490311]	Chr5:88722808 [GRCh38] Chr5:88018625 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.54+8G>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001492180]	Chr5:88823727 [GRCh38] Chr5:88119544 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.27G>A (p.Thr9=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001492207]\|not provided [RCV001815565]	Chr5:88823762 [GRCh38] Chr5:88119579 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.639G>C (p.Gly213=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001495219]	Chr5:88731900 [GRCh38] Chr5:88027717 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.595C>T (p.Leu199=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001486981]	Chr5:88749112 [GRCh38] Chr5:88044929 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001482481]	Chr5:88728588 [GRCh38] Chr5:88024405 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.638-14dup	duplication	Intellectual disability, autosomal dominant 20 [RCV001522522]	Chr5:88731909..88731910 [GRCh38] Chr5:88027726..88027727 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.651C>A (p.Gly217=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001436259]	Chr5:88731888 [GRCh38] Chr5:88027705 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.450C>T (p.Ser150=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001466386]	Chr5:88751996 [GRCh38] Chr5:88047813 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.309G>A (p.Ala103=)	single nucleotide variant	Inborn genetic diseases [RCV002324072]\|Intellectual disability, autosomal dominant 20 [RCV001483686]	Chr5:88761278 [GRCh38] Chr5:88057095 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001474602]	Chr5:88722610 [GRCh38] Chr5:88018427 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001474603]	Chr5:88722649 [GRCh38] Chr5:88018466 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.237G>A (p.Arg79=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001470908]	Chr5:88804619 [GRCh38] Chr5:88100436 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.638-1G>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001377142]	Chr5:88731902 [GRCh38] Chr5:88027719 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.637+1G>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001379879]	Chr5:88749069 [GRCh38] Chr5:88044886 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.490C>T (p.Leu164=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001443427]	Chr5:88751956 [GRCh38] Chr5:88047773 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.210G>A (p.Thr70=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001409802]	Chr5:88804646 [GRCh38] Chr5:88100463 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.690T>C (p.Gly230=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001428111]	Chr5:88731849 [GRCh38] Chr5:88027666 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.402+8C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001409794]	Chr5:88761177 [GRCh38] Chr5:88056994 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.55-9T>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001441918]	Chr5:88804810 [GRCh38] Chr5:88100627 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001405941]	Chr5:88722628 [GRCh38] Chr5:88018445 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.514C>T (p.Leu172=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001401363]	Chr5:88751932 [GRCh38] Chr5:88047749 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.84G>T (p.Leu28Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001379953]	Chr5:88804772 [GRCh38] Chr5:88100589 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001440479]	Chr5:88722823 [GRCh38] Chr5:88018640 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.225G>A (p.Pro75=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001429971]	Chr5:88804631 [GRCh38] Chr5:88100448 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.891C>T (p.Ser297=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001473200]	Chr5:88729291 [GRCh38] Chr5:88025108 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.-26C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001684643]\|not provided [RCV002284492]	Chr5:88823814 [GRCh38] Chr5:88119631 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.-66A>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001684644]	Chr5:88823854 [GRCh38] Chr5:88119671 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001496636]	Chr5:88722625 [GRCh38] Chr5:88018442 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1202G>A (p.Arg401His)	single nucleotide variant	not provided [RCV001585399]	Chr5:88722824 [GRCh38] Chr5:88018641 [GRCh37] Chr5:5q14.3	uncertain significance
NC_000005.9:g.(?_88027526)_(88027738_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001385087]	Chr5:88027526..88027738 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.657C>T (p.Pro219=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001473769]	Chr5:88731882 [GRCh38] Chr5:88027699 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001503450]	Chr5:88722667 [GRCh38] Chr5:88018484 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001376765]	Chr5:88804686 [GRCh38] Chr5:88100503 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001438527]	Chr5:88722643 [GRCh38] Chr5:88018460 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.219C>T (p.Asn73=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001481009]	Chr5:88804637 [GRCh38] Chr5:88100454 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001393858]	Chr5:88804662 [GRCh38] Chr5:88100479 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.463T>C (p.Leu155=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001424539]	Chr5:88751983 [GRCh38] Chr5:88047800 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.612C>G (p.Leu204=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001402618]	Chr5:88749095 [GRCh38] Chr5:88044912 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.235C>A (p.Arg79=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001424975]	Chr5:88804621 [GRCh38] Chr5:88100438 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.826C>G (p.Leu276Val)	single nucleotide variant	not specified [RCV002247973]	Chr5:88730219 [GRCh38] Chr5:88026036 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.168G>C (p.Gln56His)	single nucleotide variant	not provided [RCV001758339]	Chr5:88804688 [GRCh38] Chr5:88100505 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1075C>A (p.Pro359Thr)	single nucleotide variant	not provided [RCV002280393]	Chr5:88728518 [GRCh38] Chr5:88024335 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.126G>C (p.Glu42Asp)	single nucleotide variant	not provided [RCV001754425]	Chr5:88804730 [GRCh38] Chr5:88100547 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.752G>A (p.Arg251His)	single nucleotide variant	not provided [RCV001767443]	Chr5:88731787 [GRCh38] Chr5:88027604 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.258+5G>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001775320]	Chr5:88804593 [GRCh38] Chr5:88100410 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.402+146C>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001775257]	Chr5:88761039 [GRCh38] Chr5:88056856 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001805750]	Chr5:88804752 [GRCh38] Chr5:88100569 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.638-2A>G	single nucleotide variant	not provided [RCV001806891]	Chr5:88731903 [GRCh38] Chr5:88027720 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser)	single nucleotide variant	not provided [RCV001814709]	Chr5:88752031 [GRCh38] Chr5:88047848 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002000307]	Chr5:88722686 [GRCh38] Chr5:88018503 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.402+184del	deletion	Intellectual disability, autosomal dominant 20 [RCV001809028]	Chr5:88761001 [GRCh38] Chr5:88056818 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.454_465delinsTGACA (p.His152_Leu155delinsTer)	indel	MEF2C-Related Disorder [RCV001825231]	Chr5:88751981..88751992 [GRCh38] Chr5:88047798..88047809 [GRCh37] Chr5:5q14.3	not provided
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001878404]	Chr5:88751947 [GRCh38] Chr5:88047764 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001866603]	Chr5:88728506 [GRCh38] Chr5:88024323 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1100+3A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001869907]	Chr5:88728490 [GRCh38] Chr5:88024307 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001870118]	Chr5:88731751 [GRCh38] Chr5:88027568 [GRCh37] Chr5:5q14.3	uncertain significance
GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	copy number loss	not specified [RCV002053507]	Chr5:82185951..90110454 [GRCh37] Chr5:5q14.2-14.3	pathogenic
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001823677]	Chr5:88722815 [GRCh38] Chr5:88018632 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.686C>T (p.Pro229Leu)	single nucleotide variant	not provided [RCV001843622]	Chr5:88731853 [GRCh38] Chr5:88027670 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001843877]	Chr5:88804737 [GRCh38] Chr5:88100554 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002042247]	Chr5:88722687 [GRCh38] Chr5:88018504 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002029735]	Chr5:88729295 [GRCh38] Chr5:88025112 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001901698]	Chr5:88823763 [GRCh38] Chr5:88119580 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001959546]	Chr5:88761200 [GRCh38] Chr5:88057017 [GRCh37] Chr5:5q14.3	uncertain significance
NC_000005.9:g.(?_88047654)_(88047880_?)del	deletion	Intellectual disability, autosomal dominant 20 [RCV001923055]	Chr5:88047654..88047880 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001900278]	Chr5:88752000 [GRCh38] Chr5:88047817 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001962780]	Chr5:88728509 [GRCh38] Chr5:88024326 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.304G>C (p.Asp102His)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001977297]	Chr5:88761283 [GRCh38] Chr5:88057100 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001921311]	Chr5:88761188 [GRCh38] Chr5:88057005 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV001907432]	Chr5:88804650 [GRCh38] Chr5:88100467 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.699C>T (p.Asn233=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002075724]	Chr5:88731840 [GRCh38] Chr5:88027657 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.66A>G (p.Thr22=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002107242]	Chr5:88804790 [GRCh38] Chr5:88100607 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002127887]	Chr5:88728579 [GRCh38] Chr5:88024396 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002072495]	Chr5:88728591 [GRCh38] Chr5:88024408 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.589+19G>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002111408]	Chr5:88751838 [GRCh38] Chr5:88047655 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.54+13A>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002128153]	Chr5:88823722 [GRCh38] Chr5:88119539 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.195G>T (p.Val65=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002152486]	Chr5:88804661 [GRCh38] Chr5:88100478 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002208010]	Chr5:88749096 [GRCh38] Chr5:88044913 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.30G>A (p.Arg10=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002135230]	Chr5:88823759 [GRCh38] Chr5:88119576 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.258+14C>T	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002166545]	Chr5:88804584 [GRCh38] Chr5:88100401 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.402+9T>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002173195]	Chr5:88761176 [GRCh38] Chr5:88056993 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002080027]	Chr5:88731845 [GRCh38] Chr5:88027662 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.111G>A (p.Val37=)	single nucleotide variant	Inborn genetic diseases [RCV002434495]\|Intellectual disability, autosomal dominant 20 [RCV002115135]	Chr5:88804745 [GRCh38] Chr5:88100562 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002115901]	Chr5:88761212 [GRCh38] Chr5:88057029 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1100+6C>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002094145]	Chr5:88728487 [GRCh38] Chr5:88024304 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.810+14A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002212186]	Chr5:88731715 [GRCh38] Chr5:88027532 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.936A>G (p.Pro312=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002193246]	Chr5:88729246 [GRCh38] Chr5:88025063 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.465G>A (p.Leu155=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002168130]	Chr5:88751981 [GRCh38] Chr5:88047798 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.258+13_258+14delinsAT	indel	Intellectual disability, autosomal dominant 20 [RCV002131844]	Chr5:88804584..88804585 [GRCh38] Chr5:88100401..88100402 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1119T>C (p.His373=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002219337]	Chr5:88722907 [GRCh38] Chr5:88018724 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002123277]	Chr5:88728563 [GRCh38] Chr5:88024380 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.637+19C>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002117594]	Chr5:88749051 [GRCh38] Chr5:88044868 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002249102]	Chr5:88804752 [GRCh38] Chr5:88100569 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.835-10_835-7del	microsatellite	Intellectual disability, autosomal dominant 20 [RCV002081857]	Chr5:88729354..88729357 [GRCh38] Chr5:88025171..88025174 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002138640]	Chr5:88722808 [GRCh38] Chr5:88018625 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.864T>C (p.Ala288=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002182311]	Chr5:88729318 [GRCh38] Chr5:88025135 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.54+16T>A	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002100566]	Chr5:88823719 [GRCh38] Chr5:88119536 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.965-15T>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002099754]	Chr5:88728643 [GRCh38] Chr5:88024460 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002135608]	Chr5:88722730 [GRCh38] Chr5:88018547 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.965-6A>C	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002177859]	Chr5:88728634 [GRCh38] Chr5:88024451 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.645G>T (p.Gly215=)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002158456]	Chr5:88731894 [GRCh38] Chr5:88027711 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002250111]	Chr5:88823745 [GRCh38] Chr5:88119562 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.-142-25787T>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002227757]	Chr5:88849717 [GRCh38] Chr5:88145534 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.4(MEF2C):c.-523_-511TCTTCCTCCTCCT[1]	microsatellite	not provided [RCV002263384]	Chr5:88883310..88883322 [GRCh38] Chr5:88179127..88179139 [GRCh37] Chr5:5q14.3	benign
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)	single nucleotide variant	not provided [RCV002273554]	Chr5:88722689 [GRCh38] Chr5:88018506 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)	single nucleotide variant	not provided [RCV002291475]	Chr5:88722613 [GRCh38] Chr5:88018430 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.964G>A (p.Glu322Lys)	single nucleotide variant	not provided [RCV002274784]	Chr5:88729218 [GRCh38] Chr5:88025035 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.835-2A>G	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002283626]	Chr5:88729349 [GRCh38] Chr5:88025166 [GRCh37] Chr5:5q14.3	likely pathogenic
NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)	single nucleotide variant	Inborn genetic diseases [RCV002351881]	Chr5:88751893 [GRCh38] Chr5:88047710 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.570T>A (p.Pro190_Pro191=)	single nucleotide variant	Inborn genetic diseases [RCV002347623]	Chr5:88751876 [GRCh38] Chr5:88047693 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV002472152]	Chr5:88729242..88729243 [GRCh38] Chr5:88025059..88025060 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.908del (p.Leu303fs)	deletion	Intellectual disability, autosomal dominant 20 [RCV002471551]	Chr5:88729274 [GRCh38] Chr5:88025091 [GRCh37] Chr5:5q14.3	pathogenic
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002301718]	Chr5:88823736 [GRCh38] Chr5:88119553 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002295425]	Chr5:88761267 [GRCh38] Chr5:88057084 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002298302]	Chr5:88731793 [GRCh38] Chr5:88027610 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.15G>T (p.Lys5Asn)	single nucleotide variant	Inborn genetic diseases [RCV002398673]	Chr5:88823774 [GRCh38] Chr5:88119591 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1306C>A (p.Arg436_Glu437=)	single nucleotide variant	Inborn genetic diseases [RCV002380958]	Chr5:88722720 [GRCh38] Chr5:88018537 [GRCh37] Chr5:5q14.3	likely benign
NM_002397.5(MEF2C):c.896C>T (p.Ala299Val)	single nucleotide variant	Inborn genetic diseases [RCV002449907]	Chr5:88729286 [GRCh38] Chr5:88025103 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 20 [RCV002303079]	Chr5:88729263 [GRCh38] Chr5:88025080 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)	single nucleotide variant	not provided [RCV002475508]	Chr5:88722666 [GRCh38] Chr5:88018483 [GRCh37] Chr5:5q14.3	uncertain significance
NM_002397.5(MEF2C):c.82T>G (p.Leu28Val)	single nucleotide variant	not provided [RCV002461722]	Chr5:88804774 [GRCh38] Chr5:88100591 [GRCh37] Chr5:5q14.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR21	hsa-miR-21-5p	Mirtarbase	external_info	Immunofluorescence//In situ hybridization//Lucifer	Functional MTI	21170291
MIR223	hsa-miR-223-3p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	18278031
MIR223	hsa-miR-223-3p	Mirtarbase	external_info	Immunofluorescence//qRT-PCR//Western blot	Non-Functional MTI	23094093

Predicted Target Of

	Summary Value
Count of predictions:	9808
Count of miRNA genes:	1296
Interacting mature miRNAs:	1679
Transcripts:	ENST00000340208, ENST00000424173, ENST00000437473, ENST00000502831, ENST00000502983, ENST00000503075, ENST00000503554, ENST00000503955, ENST00000504921, ENST00000506554, ENST00000506716, ENST00000507984, ENST00000508569, ENST00000508610, ENST00000509349, ENST00000509373, ENST00000510942, ENST00000510980, ENST00000511086, ENST00000513252, ENST00000514015, ENST00000514028, ENST00000515093, ENST00000515715, ENST00000539796
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

L28334

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,187,661 - 88,187,774	UniSTS	GRCh37
Build 36	5	88,223,417 - 88,223,530	RGD	NCBI36
Cytogenetic Map	5	q14	UniSTS

D5S1705

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,124,463 - 88,124,603	UniSTS	GRCh37
Build 36	5	88,160,219 - 88,160,359	RGD	NCBI36
Celera	5	84,017,106 - 84,017,246	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,328,748 - 83,328,888	UniSTS
Whitehead-RH Map	5	296.5	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

RH93636

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,121,262 - 88,121,440	UniSTS	GRCh37
Build 36	5	88,157,018 - 88,157,196	RGD	NCBI36
Celera	5	84,013,904 - 84,014,082	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,325,547 - 83,325,725	UniSTS
GeneMap99-GB4 RH Map	5	402.95	UniSTS

RH103877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,143,539 - 88,143,626	UniSTS	GRCh37
Build 36	5	88,179,295 - 88,179,382	RGD	NCBI36
Celera	5	84,036,188 - 84,036,275	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,347,833 - 83,347,920	UniSTS
GeneMap99-GB4 RH Map	5	402.95	UniSTS

RH120393

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,013,720 - 88,014,067	UniSTS	GRCh37
Build 36	5	88,049,476 - 88,049,823	RGD	NCBI36
Celera	5	83,906,685 - 83,907,032	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,218,651 - 83,218,998	UniSTS
TNG Radiation Hybrid Map	5	40105.0	UniSTS

RH121542

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,112,170 - 88,112,493	UniSTS	GRCh37
Build 36	5	88,147,926 - 88,148,249	RGD	NCBI36
Celera	5	84,004,810 - 84,005,133	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,316,453 - 83,316,777	UniSTS
TNG Radiation Hybrid Map	5	40139.0	UniSTS

RH121467

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,191,420 - 88,191,718	UniSTS	GRCh37
Build 36	5	88,227,176 - 88,227,474	RGD	NCBI36
Celera	5	84,084,049 - 84,084,347	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,395,681 - 83,395,979	UniSTS
TNG Radiation Hybrid Map	5	40161.0	UniSTS

SHGC-112475

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,087,787 - 88,088,112	UniSTS	GRCh37
Build 36	5	88,123,543 - 88,123,868	RGD	NCBI36
Celera	5	83,980,429 - 83,980,754	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,292,068 - 83,292,393	UniSTS
TNG Radiation Hybrid Map	5	40126.0	UniSTS

SHGC-106419

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,191,767 - 88,192,067	UniSTS	GRCh37
Build 36	5	88,227,523 - 88,227,823	RGD	NCBI36
Celera	5	84,084,396 - 84,084,696	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,396,028 - 83,396,328	UniSTS
TNG Radiation Hybrid Map	5	40165.0	UniSTS

SHGC-81868

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,105,043 - 88,105,322	UniSTS	GRCh37
Build 36	5	88,140,799 - 88,141,078	RGD	NCBI36
Celera	5	83,997,684 - 83,997,963	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,309,326 - 83,309,605	UniSTS
TNG Radiation Hybrid Map	5	40136.0	UniSTS

MEF2C_2028

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,016,545 - 88,017,437	UniSTS	GRCh37
Build 36	5	88,052,301 - 88,053,193	RGD	NCBI36
Celera	5	83,909,511 - 83,910,402	RGD
HuRef	5	83,221,477 - 83,222,368	UniSTS

G10647

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,017,675 - 88,017,902	UniSTS	GRCh37
Build 36	5	88,053,431 - 88,053,658	RGD	NCBI36
Celera	5	83,910,640 - 83,910,867	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,222,606 - 83,222,833	UniSTS

SHGC-56442

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,199,037 - 88,199,289	UniSTS	GRCh37
GRCh37	7	66,801,542 - 66,801,790	UniSTS	GRCh37
Build 36	5	88,234,793 - 88,235,045	RGD	NCBI36
Celera	5	84,091,666 - 84,091,918	RGD
Celera	7	60,184,946 - 60,185,194	UniSTS
Cytogenetic Map	5	q14	UniSTS
HuRef	7	62,984,252 - 62,984,504	UniSTS
HuRef	5	83,403,302 - 83,403,554	UniSTS
CRA_TCAGchr7v2	7	66,139,104 - 66,139,352	UniSTS

SHGC-60182

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,121,418 - 88,121,519	UniSTS	GRCh37
Build 36	5	88,157,174 - 88,157,275	RGD	NCBI36
Celera	5	84,014,060 - 84,014,161	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,325,703 - 83,325,804	UniSTS
TNG Radiation Hybrid Map	5	40139.0	UniSTS

STS-Z40067

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,014,110 - 88,014,172	UniSTS	GRCh37
GRCh37	11	47,818,757 - 47,819,734	UniSTS	GRCh37
Build 36	5	88,049,866 - 88,049,928	RGD	NCBI36
Celera	11	47,966,593 - 47,967,570	UniSTS
Celera	5	83,907,075 - 83,907,137	RGD
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,219,041 - 83,219,103	UniSTS
GeneMap99-GB4 RH Map	5	402.95	UniSTS

1372

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,177,109 - 88,177,206	UniSTS	GRCh37
Build 36	5	88,212,865 - 88,212,962	RGD	NCBI36
Celera	5	84,069,737 - 84,069,834	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,381,370 - 83,381,467	UniSTS
GeneMap99-GB4 RH Map	5	402.95	UniSTS

WI-11682

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,064,600 - 88,064,703	UniSTS	GRCh37
Build 36	5	88,100,356 - 88,100,459	RGD	NCBI36
Celera	5	83,957,239 - 83,957,342	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,268,877 - 83,268,980	UniSTS
GeneMap99-GB4 RH Map	5	400.93	UniSTS
Whitehead-RH Map	5	293.2	UniSTS
NCBI RH Map	5	567.3	UniSTS

SHGC-60204

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,121,189 - 88,121,332	UniSTS	GRCh37
Build 36	5	88,156,945 - 88,157,088	RGD	NCBI36
Celera	5	84,013,831 - 84,013,974	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,325,474 - 83,325,617	UniSTS

D5S1755

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,130,859 - 88,130,964	UniSTS	GRCh37
Build 36	5	88,166,615 - 88,166,720	RGD	NCBI36
Celera	5	84,023,502 - 84,023,607	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,335,144 - 83,335,249	UniSTS
Whitehead-RH Map	5	296.5	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

SGC30495

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,016,180 - 88,016,304	UniSTS	GRCh37
Build 36	5	88,051,936 - 88,052,060	RGD	NCBI36
Celera	5	83,909,146 - 83,909,270	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,221,112 - 83,221,236	UniSTS
GeneMap99-GB4 RH Map	5	402.95	UniSTS
Whitehead-RH Map	5	296.6	UniSTS

D5S2436

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,030,435 - 88,030,586	UniSTS	GRCh37
Build 36	5	88,066,191 - 88,066,342	RGD	NCBI36
Celera	5	83,923,398 - 83,923,549	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,235,359 - 83,235,510	UniSTS
Whitehead-YAC Contig Map	5		UniSTS

SGC30054

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,016,696 - 88,016,796	UniSTS	GRCh37
Build 36	5	88,052,452 - 88,052,552	RGD	NCBI36
Celera	5	83,909,661 - 83,909,761	RGD
Cytogenetic Map	5	q14	UniSTS
HuRef	5	83,221,627 - 83,221,727	UniSTS
GeneMap99-GB4 RH Map	5	400.83	UniSTS
Whitehead-RH Map	5	292.6	UniSTS

MEF2C

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,057,065 - 88,057,130	UniSTS	GRCh37
GRCh37	5	88,047,679 - 88,047,847	UniSTS	GRCh37
Celera	5	83,949,704 - 83,949,769	UniSTS
Celera	5	83,940,315 - 83,940,483	UniSTS
HuRef	5	83,251,951 - 83,252,119	UniSTS
HuRef	5	83,261,340 - 83,261,405	UniSTS

MEF2C

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	88,057,065 - 88,057,130	UniSTS	GRCh37
GRCh37	5	88,047,679 - 88,047,847	UniSTS	GRCh37
Celera	5	83,949,704 - 83,949,769	UniSTS
Celera	5	83,940,315 - 83,940,483	UniSTS
HuRef	5	83,251,951 - 83,252,119	UniSTS
HuRef	5	83,261,340 - 83,261,405	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

549

1368

803

966

2371

996

1100

123

508

1006

970

1680

Low

1828

1558

882

555

893

406

1839

1188

2601

280

896

535

156

234

1106

Below cutoff

143

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001131005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001308002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001363581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001364357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005248511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417210	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417211	(Get FASTA)

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar