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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


55 records found for search term Mef2a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405293556CV3214238single nucleotide variantNM_001319206.4(MEF2A):c.611-8G>AMEF2A-related disorder [RCV003931942]benign159967539199675391Humanname , trait , alternate_id
15185193CV770464single nucleotide variantNM_001319206.4(MEF2A):c.390+167G>Anot provided [RCV000930991]benign159967162199671621Humanname
15138275CV785085single nucleotide variantNM_001319206.4(MEF2A):c.9G>A (p.Arg3=)not provided [RCV000982445]likely benign159963312899633128Humanname
405276421CV3193411single nucleotide variantNM_001319206.4(MEF2A):c.891G>A (p.Gln297=)MEF2A-related disorder [RCV003974578]benign159970673799706737Humanname , trait , alternate_id
405284010CV3200481single nucleotide variantNM_001319206.4(MEF2A):c.885T>C (p.Asn295=)MEF2A-related disorder [RCV003979503]benign159970673199706731Humanname , trait , alternate_id
598241126CV3985665single nucleotide variantNM_001319206.4(MEF2A):c.993G>A (p.Pro331=)not specified [RCV005364760]likely benign159970683999706839Humanname
15192931CV739916single nucleotide variantNM_001319206.4(MEF2A):c.930C>T (p.Thr310=)not provided [RCV000910690]benign159970677699706776Humanname
405284368CV3196801single nucleotide variantNM_001319206.4(MEF2A):c.1347G>T (p.Gly449=)MEF2A-related disorder [RCV003979680]benign159971260099712600Humanname , trait , alternate_id
405288061CV3211014single nucleotide variantNM_001319206.4(MEF2A):c.1137T>C (p.Val379=)MEF2A-related disorder [RCV003924736]|not specified [RCV004369810]likely benign159971239099712390Human1name , trait , alternate_id
405283603CV3217177single nucleotide variantNM_001319206.4(MEF2A):c.1434A>G (p.Pro478=)MEF2A-related disorder [RCV003979275]benign159971268799712687Humanname , trait , alternate_id
405272698CV3220498single nucleotide variantNM_001319206.4(MEF2A):c.1245G>A (p.Ser415=)MEF2A-related disorder [RCV003972277]benign159971249899712498Humanname , trait , alternate_id
407518032CV3449738single nucleotide variantNM_001319206.4(MEF2A):c.232A>G (p.Ser78Gly)not specified [RCV004628727]uncertain significance159964573899645738Humanname
407502444CV3449740single nucleotide variantNM_001319206.4(MEF2A):c.149G>C (p.Ser50Thr)not specified [RCV004645149]uncertain significance159964565599645655Humanname
15110701CV714706single nucleotide variantNM_001319206.4(MEF2A):c.1299G>A (p.Pro433=)not provided [RCV000960956]benign159971255299712552Humanname
15123392CV770465single nucleotide variantNM_001319206.4(MEF2A):c.1074G>A (p.Ser358=)not provided [RCV000940847]likely benign159971069899710698Humanname
156079761CV2226569single nucleotide variantNM_001319206.4(MEF2A):c.623G>A (p.Ser208Asn)not specified [RCV004101824]uncertain significance159967541199675411Humanname
156255354CV2277504single nucleotide variantNM_001319206.4(MEF2A):c.427A>C (p.Thr143Pro)not specified [RCV004145196]uncertain significance159967442999674429Humanname
156147655CV2311173single nucleotide variantNM_001319206.4(MEF2A):c.947C>T (p.Thr316Ile)not specified [RCV004165980]uncertain significance159970679399706793Humanname
156401967CV2371270single nucleotide variantNM_001319206.4(MEF2A):c.647A>G (p.Asn216Ser)not specified [RCV004221005]uncertain significance159967543599675435Humanname
156147097CV2381833single nucleotide variantNM_001319206.4(MEF2A):c.403C>T (p.Pro135Ser)not specified [RCV004232276]uncertain significance159967440599674405Humanname
8560790CV23988single nucleotide variantNM_001319206.4(MEF2A):c.830C>T (p.Pro277Leu)Coronary artery disease/myocardial infarction [RCV000009505]pathogenic159969040099690400Humanname
8560791CV23989single nucleotide variantNM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)Coronary artery disease/myocardial infarction [RCV000009506]|not provided [RCV003390664]|not specified [RCV000420077]pathogenic|benign|likely benign159969035299690352Human1name
8560792CV23990single nucleotide variantNM_001319206.4(MEF2A):c.842G>A (p.Gly281Asp)Coronary artery disease/myocardial infarction [RCV000009507]pathogenic159969041299690412Humanname
401732653CV2691069single nucleotide variantNM_001319206.4(MEF2A):c.722G>A (p.Gly241Asp)not specified [RCV004301071]uncertain significance159969029299690292Humanname
401758591CV2700615single nucleotide variantNM_001319206.4(MEF2A):c.662G>A (p.Ser221Asn)not specified [RCV004313346]uncertain significance159967545099675450Humanname
401735412CV2702769single nucleotide variantNM_001319206.4(MEF2A):c.916C>G (p.Gln306Glu)not specified [RCV004319339]uncertain significance159970676299706762Humanname
405700353CV3224924single nucleotide variantNM_001319206.4(MEF2A):c.407A>G (p.Gln136Arg)Coronary artery disease, autosomal dominant, 1 [RCV003989208]uncertain significance159967440999674409Human1name
407502439CV3449739single nucleotide variantNM_001319206.4(MEF2A):c.562A>C (p.Asn188His)not specified [RCV004645148]uncertain significance159967456499674564Humanname
597678033CV3560273single nucleotide variantNM_001319206.4(MEF2A):c.751A>T (p.Thr251Ser)not specified [RCV004830396]uncertain significance159969032199690321Humanname
597678011CV3560275single nucleotide variantNM_001319206.4(MEF2A):c.599C>T (p.Thr200Ile)not specified [RCV004830398]uncertain significance159967460199674601Humanname
597678000CV3560276single nucleotide variantNM_001319206.4(MEF2A):c.512C>T (p.Thr171Met)not specified [RCV004830399]uncertain significance159967451499674514Humanname
597677990CV3560277single nucleotide variantNM_001319206.4(MEF2A):c.565G>A (p.Val189Met)not specified [RCV004830400]uncertain significance159967456799674567Humanname
155961651CV2254232single nucleotide variantNM_001319206.4(MEF2A):c.1101G>C (p.Gln367His)not specified [RCV004129911]uncertain significance159971072599710725Humanname
156081924CV2256188single nucleotide variantNM_001319206.4(MEF2A):c.1058C>T (p.Ser353Leu)not specified [RCV004116452]uncertain significance159971068299710682Humanname
155905635CV2303153single nucleotide variantNM_001319206.4(MEF2A):c.1289C>A (p.Pro430Gln)not specified [RCV004156919]likely benign159971254299712542Humanname
329365247CV2440183single nucleotide variantNM_001319206.4(MEF2A):c.1297C>T (p.Pro433Ser)not specified [RCV004260636]uncertain significance159971255099712550Humanname
401896016CV2776339single nucleotide variantNM_001319206.4(MEF2A):c.1231C>T (p.Arg411Cys)not specified [RCV004355478]uncertain significance159971248499712484Humanname
401876186CV2777693single nucleotide variantNM_001319206.4(MEF2A):c.1490G>A (p.Arg497Gln)not specified [RCV004343528]uncertain significance159971274399712743Humanname
401880972CV2787758single nucleotide variantNM_001319206.4(MEF2A):c.1112G>C (p.Gly371Ala)not specified [RCV004356666]uncertain significance159971073699710736Humanname
405256066CV3208579single nucleotide variantNM_001319206.4(MEF2A):c.1286C>A (p.Pro429Gln)MEF2A-related disorder [RCV003939655]likely benign159971253999712539Humanname , trait , alternate_id
405692608CV3281791single nucleotide variantNM_001319206.4(MEF2A):c.1127G>A (p.Ser376Asn)not specified [RCV004423942]uncertain significance159971075199710751Humanname
405692613CV3281792single nucleotide variantNM_001319206.4(MEF2A):c.1289C>T (p.Pro430Leu)not specified [RCV004423943]uncertain significance159971254299712542Humanname
405692617CV3281793single nucleotide variantNM_001319206.4(MEF2A):c.1439T>C (p.Val480Ala)not specified [RCV004423944]uncertain significance159971269299712692Humanname
597678024CV3560274single nucleotide variantNM_001319206.4(MEF2A):c.1292C>A (p.Pro431Gln)not specified [RCV004830397]uncertain significance159971254599712545Humanname
598225305CV3985666single nucleotide variantNM_001319206.4(MEF2A):c.1504G>A (p.Ala502Thr)not specified [RCV005380374]uncertain significance159971275799712757Humanname
15106406CV714707single nucleotide variantNM_001319206.4(MEF2A):c.1435A>G (p.Ile479Val)not provided [RCV000960069]benign159971268899712688Humanname
407425024CV3409310microsatelliteNM_001319206.4(MEF2A):c.1284GCC[2] (p.Pro433del)not provided [RCV004585241]likely benign159971253799712539Humanname
598201008CV4007544microsatelliteNM_001319206.4(MEF2A):c.1293ACC[1] (p.Pro433del)Coronary artery disease, autosomal dominant, 1 [RCV005398376]uncertain significance159971254499712546Humanname
405293035CV3207195microsatelliteNM_001319206.4(MEF2A):c.1253AGC[6] (p.Gln424_Gln428del)MEF2A-related disorder [RCV003931597]benign159971250599712519Humanname , trait , alternate_id
12896331CV390193microsatelliteNM_001319206.4(MEF2A):c.1253AGC[9] (p.Gln427_Gln428del)MEF2A-related disorder [RCV003972724]|not specified [RCV000455204]benign159971250599712510Humanname , trait , alternate_id
598201002CV4007543microsatelliteNM_001319206.4(MEF2A):c.1253AGC[5] (p.Gln423_Gln428del)Coronary artery disease, autosomal dominant, 1 [RCV005398375]uncertain significance159971250599712522Humanname
15102208CV703443microsatelliteNM_001319206.4(MEF2A):c.1253AGC[13] (p.Gln427_Gln428dup)Coronary artery disease, autosomal dominant, 1 [RCV003454973]|not provided [RCV000959247]benign159971250499712505Humanname
8560789CV23987deletionNM_001319206.4(MEF2A):c.1313_1333del (p.Gln438_Pro444del)Coronary artery disease, autosomal dominant, 1 [RCV000009504]pathogenic159971256599712585Human1name
598129581CV3886998deletionNM_001319206.4(MEF2A):c.1311_1331del (p.Gln438_Pro444del)not provided [RCV005245058]benign159971255099712570Humanname
126911004CV1038376microsatelliteNM_001319206.4(MEF2A):c.123_124del (p.Cys41_Glu42delinsTer)not provided [RCV001354903]uncertain significance159964562799645628Humanname