MEF2C (myocyte enhancer factor 2C) - Rat Genome Database

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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 ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38588,717,117 - 88,904,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl588,717,117 - 88,904,257 (-)EnsemblGRCh38hg38GRCh38
GRCh37588,012,934 - 88,199,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36588,051,922 - 88,214,780 (-)NCBINCBI36Build 36hg18NCBI36
Build 34588,051,921 - 88,214,780NCBI
Celera583,907,023 - 84,092,551 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef583,218,989 - 83,404,187 (-)NCBIHuRef
CHM1_1587,447,103 - 87,632,656 (-)NCBICHM1_1
T2T-CHM13v2.0589,198,250 - 89,385,215 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Molecular Pathway Annotations     Click to see Annotation Detail View
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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38588,717,117 - 88,904,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl588,717,117 - 88,904,257 (-)EnsemblGRCh38hg38GRCh38
GRCh37588,012,934 - 88,199,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36588,051,922 - 88,214,780 (-)NCBINCBI36Build 36hg18NCBI36
Build 34588,051,921 - 88,214,780NCBI
Celera583,907,023 - 84,092,551 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef583,218,989 - 83,404,187 (-)NCBIHuRef
CHM1_1587,447,103 - 87,632,656 (-)NCBICHM1_1
T2T-CHM13v2.0589,198,250 - 89,385,215 (-)NCBIT2T-CHM13v2.0
Mef2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391383,652,136 - 83,815,198 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1383,652,153 - 83,815,199 (+)EnsemblGRCm39 Ensembl
GRCm381383,504,017 - 83,667,079 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1383,504,034 - 83,667,080 (+)EnsemblGRCm38mm10GRCm38
MGSCv371383,643,033 - 83,806,684 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361383,981,532 - 84,141,286 (+)NCBIMGSCv36mm8
Celera1385,760,645 - 85,921,930 (+)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1343.68NCBI
Mef2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2213,973,299 - 14,136,065 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl213,993,438 - 14,132,880 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx221,055,034 - 21,197,306 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0219,155,243 - 19,297,527 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0213,828,879 - 13,971,209 (+)NCBIRnor_WKY
Rnor_6.0211,658,534 - 11,822,788 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl211,658,568 - 11,822,787 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0211,521,053 - 11,684,949 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4212,331,078 - 12,346,520 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera210,288,159 - 10,449,731 (+)NCBICelera
Cytogenetic Map2q11NCBI
Mef2c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541822,537,285 - 22,701,434 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541822,537,388 - 22,701,434 (+)NCBIChiLan1.0ChiLan1.0
MEF2C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1526,620,837 - 26,786,426 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl526,681,700 - 26,786,426 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0526,480,489 - 26,650,813 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MEF2C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1319,778,997 - 19,948,203 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl319,779,007 - 19,943,852 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha321,145,574 - 21,314,826 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0319,687,661 - 19,856,893 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl319,687,680 - 19,856,891 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1319,665,907 - 19,834,881 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0319,629,618 - 19,798,838 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0319,916,077 - 20,085,117 (+)NCBIUU_Cfam_GSD_1.0
Mef2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213175,400,303 - 175,565,279 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364697,060,480 - 7,204,661 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049364697,060,480 - 7,225,497 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MEF2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl296,124,168 - 96,296,810 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1296,122,407 - 96,296,927 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2298,794,388 - 98,885,272 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MEF2C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1482,702,378 - 82,887,491 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl482,706,738 - 82,788,152 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604931,746,488 - 31,916,073 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mef2c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247438,072,673 - 8,235,252 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247438,072,871 - 8,235,174 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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 GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI21170291
MIR223hsa-miR-223-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18278031
MIR223hsa-miR-223-3pMirtarbaseexternal_infoImmunofluorescence//qRT-PCR//Western blotNon-Functional MTI23094093

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 AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,187,661 - 88,187,774UniSTSGRCh37
Build 36588,223,417 - 88,223,530RGDNCBI36
Cytogenetic Map5q14UniSTS
D5S1705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,124,463 - 88,124,603UniSTSGRCh37
Build 36588,160,219 - 88,160,359RGDNCBI36
Celera584,017,106 - 84,017,246RGD
Cytogenetic Map5q14UniSTS
HuRef583,328,748 - 83,328,888UniSTS
Whitehead-RH Map5296.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH93636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,262 - 88,121,440UniSTSGRCh37
Build 36588,157,018 - 88,157,196RGDNCBI36
Celera584,013,904 - 84,014,082RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,547 - 83,325,725UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
RH103877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,143,539 - 88,143,626UniSTSGRCh37
Build 36588,179,295 - 88,179,382RGDNCBI36
Celera584,036,188 - 84,036,275RGD
Cytogenetic Map5q14UniSTS
HuRef583,347,833 - 83,347,920UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
RH120393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,013,720 - 88,014,067UniSTSGRCh37
Build 36588,049,476 - 88,049,823RGDNCBI36
Celera583,906,685 - 83,907,032RGD
Cytogenetic Map5q14UniSTS
HuRef583,218,651 - 83,218,998UniSTS
TNG Radiation Hybrid Map540105.0UniSTS
RH121542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,112,170 - 88,112,493UniSTSGRCh37
Build 36588,147,926 - 88,148,249RGDNCBI36
Celera584,004,810 - 84,005,133RGD
Cytogenetic Map5q14UniSTS
HuRef583,316,453 - 83,316,777UniSTS
TNG Radiation Hybrid Map540139.0UniSTS
RH121467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,191,420 - 88,191,718UniSTSGRCh37
Build 36588,227,176 - 88,227,474RGDNCBI36
Celera584,084,049 - 84,084,347RGD
Cytogenetic Map5q14UniSTS
HuRef583,395,681 - 83,395,979UniSTS
TNG Radiation Hybrid Map540161.0UniSTS
SHGC-112475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,087,787 - 88,088,112UniSTSGRCh37
Build 36588,123,543 - 88,123,868RGDNCBI36
Celera583,980,429 - 83,980,754RGD
Cytogenetic Map5q14UniSTS
HuRef583,292,068 - 83,292,393UniSTS
TNG Radiation Hybrid Map540126.0UniSTS
SHGC-106419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,191,767 - 88,192,067UniSTSGRCh37
Build 36588,227,523 - 88,227,823RGDNCBI36
Celera584,084,396 - 84,084,696RGD
Cytogenetic Map5q14UniSTS
HuRef583,396,028 - 83,396,328UniSTS
TNG Radiation Hybrid Map540165.0UniSTS
SHGC-81868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,105,043 - 88,105,322UniSTSGRCh37
Build 36588,140,799 - 88,141,078RGDNCBI36
Celera583,997,684 - 83,997,963RGD
Cytogenetic Map5q14UniSTS
HuRef583,309,326 - 83,309,605UniSTS
TNG Radiation Hybrid Map540136.0UniSTS
MEF2C_2028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,545 - 88,017,437UniSTSGRCh37
Build 36588,052,301 - 88,053,193RGDNCBI36
Celera583,909,511 - 83,910,402RGD
HuRef583,221,477 - 83,222,368UniSTS
G10647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,017,675 - 88,017,902UniSTSGRCh37
Build 36588,053,431 - 88,053,658RGDNCBI36
Celera583,910,640 - 83,910,867RGD
Cytogenetic Map5q14UniSTS
HuRef583,222,606 - 83,222,833UniSTS
SHGC-56442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,199,037 - 88,199,289UniSTSGRCh37
GRCh37766,801,542 - 66,801,790UniSTSGRCh37
Build 36588,234,793 - 88,235,045RGDNCBI36
Celera584,091,666 - 84,091,918RGD
Celera760,184,946 - 60,185,194UniSTS
Cytogenetic Map5q14UniSTS
HuRef762,984,252 - 62,984,504UniSTS
HuRef583,403,302 - 83,403,554UniSTS
CRA_TCAGchr7v2766,139,104 - 66,139,352UniSTS
SHGC-60182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,418 - 88,121,519UniSTSGRCh37
Build 36588,157,174 - 88,157,275RGDNCBI36
Celera584,014,060 - 84,014,161RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,703 - 83,325,804UniSTS
TNG Radiation Hybrid Map540139.0UniSTS
STS-Z40067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,014,110 - 88,014,172UniSTSGRCh37
GRCh371147,818,757 - 47,819,734UniSTSGRCh37
Build 36588,049,866 - 88,049,928RGDNCBI36
Celera1147,966,593 - 47,967,570UniSTS
Celera583,907,075 - 83,907,137RGD
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q14UniSTS
HuRef583,219,041 - 83,219,103UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
1372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,177,109 - 88,177,206UniSTSGRCh37
Build 36588,212,865 - 88,212,962RGDNCBI36
Celera584,069,737 - 84,069,834RGD
Cytogenetic Map5q14UniSTS
HuRef583,381,370 - 83,381,467UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
WI-11682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,064,600 - 88,064,703UniSTSGRCh37
Build 36588,100,356 - 88,100,459RGDNCBI36
Celera583,957,239 - 83,957,342RGD
Cytogenetic Map5q14UniSTS
HuRef583,268,877 - 83,268,980UniSTS
GeneMap99-GB4 RH Map5400.93UniSTS
Whitehead-RH Map5293.2UniSTS
NCBI RH Map5567.3UniSTS
SHGC-60204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,189 - 88,121,332UniSTSGRCh37
Build 36588,156,945 - 88,157,088RGDNCBI36
Celera584,013,831 - 84,013,974RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,474 - 83,325,617UniSTS
D5S1755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,130,859 - 88,130,964UniSTSGRCh37
Build 36588,166,615 - 88,166,720RGDNCBI36
Celera584,023,502 - 84,023,607RGD
Cytogenetic Map5q14UniSTS
HuRef583,335,144 - 83,335,249UniSTS
Whitehead-RH Map5296.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
SGC30495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,180 - 88,016,304UniSTSGRCh37
Build 36588,051,936 - 88,052,060RGDNCBI36
Celera583,909,146 - 83,909,270RGD
Cytogenetic Map5q14UniSTS
HuRef583,221,112 - 83,221,236UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
Whitehead-RH Map5296.6UniSTS
D5S2436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,030,435 - 88,030,586UniSTSGRCh37
Build 36588,066,191 - 88,066,342RGDNCBI36
Celera583,923,398 - 83,923,549RGD
Cytogenetic Map5q14UniSTS
HuRef583,235,359 - 83,235,510UniSTS
Whitehead-YAC Contig Map5 UniSTS
SGC30054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,696 - 88,016,796UniSTSGRCh37
Build 36588,052,452 - 88,052,552RGDNCBI36
Celera583,909,661 - 83,909,761RGD
Cytogenetic Map5q14UniSTS
HuRef583,221,627 - 83,221,727UniSTS
GeneMap99-GB4 RH Map5400.83UniSTS
Whitehead-RH Map5292.6UniSTS
MEF2C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,057,065 - 88,057,130UniSTSGRCh37
GRCh37588,047,679 - 88,047,847UniSTSGRCh37
Celera583,949,704 - 83,949,769UniSTS
Celera583,940,315 - 83,940,483UniSTS
HuRef583,251,951 - 83,252,119UniSTS
HuRef583,261,340 - 83,261,405UniSTS
MEF2C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,057,065 - 88,057,130UniSTSGRCh37
GRCh37588,047,679 - 88,047,847UniSTSGRCh37
Celera583,949,704 - 83,949,769UniSTS
Celera583,940,315 - 83,940,483UniSTS
HuRef583,251,951 - 83,252,119UniSTS
HuRef583,261,340 - 83,261,405UniSTS


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 32 966 21 2371 996 1100 123 508 1006 12 970 1680 1
Low 1828 1558 882 555 893 406 1839 1188 2601 280 896 535 156 234 1106 1 1
Below cutoff 42 60 38 33 84 35 143 12 29 12 44 59 5 2 3

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)