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# | 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. |
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 |
MEF2C (Homo sapiens - human) |
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Mef2c (Mus musculus - house mouse) |
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Mef2c (Rattus norvegicus - Norway rat) |
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Mef2c (Chinchilla lanigera - long-tailed chinchilla) |
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MEF2C (Pan paniscus - bonobo/pygmy chimpanzee) |
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MEF2C (Canis lupus familiaris - dog) |
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Mef2c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MEF2C (Sus scrofa - pig) |
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MEF2C (Chlorocebus sabaeus - green monkey) |
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Mef2c (Heterocephalus glaber - naked mole-rat) |
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.
Variants in MEF2C
390 total 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 |
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. |
L28334 |
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D5S1705 |
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RH93636 |
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RH103877 |
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RH120393 |
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RH121542 |
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RH121467 |
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SHGC-112475 |
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SHGC-106419 |
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SHGC-81868 |
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MEF2C_2028 |
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G10647 |
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SHGC-56442 |
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SHGC-60182 |
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STS-Z40067 |
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1372 |
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WI-11682 |
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SHGC-60204 |
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D5S1755 |
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SGC30495 |
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D5S2436 |
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SGC30054 |
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MEF2C |
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MEF2C |
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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 |
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) |