Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


96 records found for search term Smg5
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15149484CV758818single nucleotide variantNM_015327.3(SMG5):c.714-5T>Cnot provided [RCV000923294]benign1156268420156268420Humanname
156220372CV2222274single nucleotide variantNM_015327.3(SMG5):c.17C>T (p.Pro6Leu)not specified [RCV004105293]uncertain significance1156282664156282664Humanname
156082563CV2249136single nucleotide variantNM_015327.3(SMG5):c.11G>T (p.Gly4Val)not specified [RCV004118190]uncertain significance1156282670156282670Humanname
156302382CV2319577single nucleotide variantNM_015327.3(SMG5):c.59C>T (p.Thr20Ile)not specified [RCV004185135]uncertain significance1156282622156282622Humanname
405787727CV3329675single nucleotide variantNM_015327.3(SMG5):c.98G>A (p.Arg33Gln)not specified [RCV004459893]uncertain significance1156279011156279011Humanname
598271923CV3915074single nucleotide variantNM_015327.3(SMG5):c.35A>C (p.Glu12Ala)not specified [RCV005282492]uncertain significance1156282646156282646Humanname
155928338CV2391706single nucleotide variantNM_015327.3(SMG5):c.256G>A (p.Val86Ile)not specified [RCV004241861]uncertain significance1156277966156277966Humanname
405787667CV3329662single nucleotide variantNM_015327.3(SMG5):c.148C>T (p.Pro50Ser)not specified [RCV004459880]uncertain significance1156278961156278961Humanname
405787687CV3329666single nucleotide variantNM_015327.3(SMG5):c.190G>A (p.Val64Ile)not specified [RCV004459884]uncertain significance1156278032156278032Humanname
597743730CV3597092single nucleotide variantNM_015327.3(SMG5):c.178C>T (p.Arg60Cys)not specified [RCV004865321]uncertain significance1156278044156278044Humanname
598271903CV3915069single nucleotide variantNM_015327.3(SMG5):c.276G>C (p.Gln92His)not specified [RCV005282488]uncertain significance1156277946156277946Humanname
156176880CV2296945single nucleotide variantNM_015327.3(SMG5):c.932C>T (p.Ser311Leu)not specified [RCV004149091]uncertain significance1156267655156267655Humanname
156092828CV2381968single nucleotide variantNM_015327.3(SMG5):c.311G>A (p.Arg104Gln)not specified [RCV004225900]uncertain significance1156277228156277228Humanname
329376395CV2438189single nucleotide variantNM_015327.3(SMG5):c.913G>A (p.Val305Met)not specified [RCV004256961]likely benign1156267674156267674Humanname
401892984CV2791877single nucleotide variantNM_015327.3(SMG5):c.986C>T (p.Ser329Phe)not specified [RCV004359316]uncertain significance1156267601156267601Humanname
407452428CV3474371single nucleotide variantNM_015327.3(SMG5):c.719A>G (p.Gln240Arg)not specified [RCV004684038]uncertain significance1156268410156268410Humanname
407495253CV3474375single nucleotide variantNM_015327.3(SMG5):c.396C>A (p.His132Gln)not specified [RCV004667832]uncertain significance1156277143156277143Humanname
407495259CV3474376single nucleotide variantNM_015327.3(SMG5):c.815G>A (p.Arg272Gln)not specified [RCV004667833]uncertain significance1156268314156268314Humanname
407495267CV3474378single nucleotide variantNM_015327.3(SMG5):c.876G>A (p.Met292Ile)not specified [RCV004667835]uncertain significance1156268147156268147Humanname
597743745CV3597096single nucleotide variantNM_015327.3(SMG5):c.300C>A (p.His100Gln)not specified [RCV004865324]uncertain significance1156277239156277239Humanname
597727000CV3597107single nucleotide variantNM_015327.3(SMG5):c.565G>A (p.Ala189Thr)not specified [RCV004862632]uncertain significance1156273430156273430Humanname
598271912CV3915072single nucleotide variantNM_015327.3(SMG5):c.758A>G (p.Lys253Arg)not specified [RCV005282490]uncertain significance1156268371156268371Humanname
155961463CV2200663single nucleotide variantNM_015327.3(SMG5):c.1802C>T (p.Ser601Leu)not specified [RCV004081325]likely benign1156265834156265834Humanname
155960816CV2204363single nucleotide variantNM_015327.3(SMG5):c.1570G>A (p.Asp524Asn)not specified [RCV004079183]uncertain significance1156266066156266066Humanname
155926081CV2230555single nucleotide variantNM_015327.3(SMG5):c.1070A>G (p.Gln357Arg)not specified [RCV004097525]uncertain significance1156267517156267517Humanname
156043578CV2237491single nucleotide variantNM_015327.3(SMG5):c.1142T>C (p.Ile381Thr)not specified [RCV004106447]uncertain significance1156266654156266654Humanname
156244102CV2243039single nucleotide variantNM_015327.3(SMG5):c.2528G>A (p.Ser843Asn)not specified [RCV004109958]uncertain significance1156253053156253053Humanname
155912530CV2245573single nucleotide variantNM_015327.3(SMG5):c.1222A>G (p.Asn408Asp)not specified [RCV004109652]uncertain significance1156266574156266574Humanname
156068095CV2270882single nucleotide variantNM_015327.3(SMG5):c.1886G>T (p.Ser629Ile)not specified [RCV004131922]uncertain significance1156263540156263540Humanname
156277845CV2286652single nucleotide variantNM_015327.3(SMG5):c.1114G>A (p.Ala372Thr)not specified [RCV004142493]uncertain significance1156267473156267473Humanname
156295464CV2303056single nucleotide variantNM_015327.3(SMG5):c.1477T>C (p.Ser493Pro)not specified [RCV004156845]uncertain significance1156266159156266159Humanname
156304190CV2304705single nucleotide variantNM_015327.3(SMG5):c.2798A>C (p.His933Pro)not specified [RCV004166865]uncertain significance1156251433156251433Humanname
155970182CV2309160single nucleotide variantNM_015327.3(SMG5):c.1844C>T (p.Pro615Leu)not specified [RCV004171511]uncertain significance1156265792156265792Humanname
156297793CV2310558single nucleotide variantNM_015327.3(SMG5):c.2957G>T (p.Gly986Val)not specified [RCV004163576]uncertain significance1156250868156250868Humanname
155961801CV2311951single nucleotide variantNM_015327.3(SMG5):c.2948T>C (p.Val983Ala)not specified [RCV004170770]likely benign1156250877156250877Humanname
156057577CV2316818single nucleotide variantNM_015327.3(SMG5):c.2333G>A (p.Arg778His)not specified [RCV004172307]uncertain significance1156259114156259114Humanname
156354331CV2324252single nucleotide variantNM_015327.3(SMG5):c.1247A>G (p.Asp416Gly)not specified [RCV004176986]uncertain significance1156266549156266549Humanname
156231741CV2346051single nucleotide variantNM_015327.3(SMG5):c.1078A>G (p.Ile360Val)not specified [RCV004201529]uncertain significance1156267509156267509Humanname
156137189CV2375693single nucleotide variantNM_015327.3(SMG5):c.1654C>T (p.Leu552Phe)not specified [RCV004224291]uncertain significance1156265982156265982Humanname
156344196CV2384719single nucleotide variantNM_015327.3(SMG5):c.1591G>A (p.Glu531Lys)not specified [RCV004232487]uncertain significance1156266045156266045Humanname
156063084CV2389333single nucleotide variantNM_015327.3(SMG5):c.1996C>T (p.Arg666Trp)not specified [RCV004238078]uncertain significance1156263430156263430Humanname
329367261CV2438890single nucleotide variantNM_015327.3(SMG5):c.2974C>G (p.Leu992Val)not specified [RCV004264420]uncertain significance1156250664156250664Humanname
329394128CV2450096single nucleotide variantNM_015327.3(SMG5):c.2666T>C (p.Ile889Thr)not specified [RCV004269138]uncertain significance1156252501156252501Humanname
329357671CV2453738single nucleotide variantNM_015327.3(SMG5):c.1834G>A (p.Val612Ile)not specified [RCV004269373]uncertain significance1156265802156265802Humanname
401782005CV2690050single nucleotide variantNM_015327.3(SMG5):c.2308C>T (p.Arg770Cys)not specified [RCV004299922]uncertain significance1156259139156259139Humanname
401777936CV2704466single nucleotide variantNM_015327.3(SMG5):c.2869C>G (p.Leu957Val)not specified [RCV004313212]uncertain significance1156250956156250956Humanname
401718421CV2708268single nucleotide variantNM_015327.3(SMG5):c.2897C>T (p.Pro966Leu)not specified [RCV004311610]uncertain significance1156250928156250928Humanname
401773835CV2727648single nucleotide variantNM_015327.3(SMG5):c.1697A>G (p.Asn566Ser)not specified [RCV004329828]uncertain significance1156265939156265939Humanname
401870738CV2766310single nucleotide variantNM_015327.3(SMG5):c.1720A>T (p.Met574Leu)not specified [RCV004342565]uncertain significance1156265916156265916Humanname
401878645CV2767479single nucleotide variantNM_015327.3(SMG5):c.1901G>A (p.Arg634His)not specified [RCV004343643]uncertain significance1156263525156263525Humanname
401897723CV2772868single nucleotide variantNM_015327.3(SMG5):c.1384C>T (p.Arg462Cys)not specified [RCV004357648]uncertain significance1156266252156266252Humanname
401892283CV2777388single nucleotide variantNM_015327.3(SMG5):c.2861A>C (p.Gln954Pro)not specified [RCV004354391]uncertain significance1156250964156250964Humanname
401882766CV2778514single nucleotide variantNM_015327.3(SMG5):c.1378C>T (p.Arg460Cys)not specified [RCV004344173]uncertain significance1156266258156266258Humanname
405787633CV3329654single nucleotide variantNM_015327.3(SMG5):c.1001G>C (p.Ser334Thr)not specified [RCV004459872]uncertain significance1156267586156267586Humanname
405787636CV3329655single nucleotide variantNM_015327.3(SMG5):c.1007C>A (p.Ala336Asp)not specified [RCV004459873]uncertain significance1156267580156267580Humanname
405787641CV3329656single nucleotide variantNM_015327.3(SMG5):c.1072A>G (p.Met358Val)not specified [RCV004459874]uncertain significance1156267515156267515Humanname
405787646CV3329657single nucleotide variantNM_015327.3(SMG5):c.1085G>A (p.Cys362Tyr)not specified [RCV004459875]uncertain significance1156267502156267502Humanname
405787650CV3329658single nucleotide variantNM_015327.3(SMG5):c.1216G>A (p.Gly406Ser)not specified [RCV004459876]uncertain significance1156266580156266580Humanname
405787659CV3329660single nucleotide variantNM_015327.3(SMG5):c.1256A>G (p.Asp419Gly)not specified [RCV004459878]uncertain significance1156266380156266380Humanname
405787664CV3329661single nucleotide variantNM_015327.3(SMG5):c.1316C>T (p.Pro439Leu)not specified [RCV004459879]uncertain significance1156266320156266320Humanname
405787677CV3329664single nucleotide variantNM_015327.3(SMG5):c.1621C>T (p.Pro541Ser)not specified [RCV004459882]uncertain significance1156266015156266015Humanname
405787682CV3329665single nucleotide variantNM_015327.3(SMG5):c.1792C>T (p.Pro598Ser)not specified [RCV004459883]uncertain significance1156265844156265844Humanname
405787692CV3329667single nucleotide variantNM_015327.3(SMG5):c.1997G>A (p.Arg666Gln)not specified [RCV004459885]uncertain significance1156263429156263429Humanname
405787696CV3329668single nucleotide variantNM_015327.3(SMG5):c.2008G>A (p.Asp670Asn)not specified [RCV004459886]uncertain significance1156263418156263418Humanname
405787701CV3329669single nucleotide variantNM_015327.3(SMG5):c.2275T>G (p.Leu759Val)not specified [RCV004459887]uncertain significance1156260459156260459Humanname
405787706CV3329670single nucleotide variantNM_015327.3(SMG5):c.2360A>G (p.Asn787Ser)not specified [RCV004459888]likely benign1156259087156259087Humanname
405787711CV3329671single nucleotide variantNM_015327.3(SMG5):c.2768A>G (p.Gln923Arg)not specified [RCV004459889]uncertain significance1156251463156251463Humanname
405787715CV3329672single nucleotide variantNM_015327.3(SMG5):c.2786G>A (p.Ser929Asn)not specified [RCV004459890]uncertain significance1156251445156251445Humanname
405787719CV3329673single nucleotide variantNM_015327.3(SMG5):c.2833C>T (p.Leu945Phe)not specified [RCV004459891]uncertain significance1156250992156250992Humanname
407495239CV3474369single nucleotide variantNM_015327.3(SMG5):c.1545A>C (p.Glu515Asp)not specified [RCV004667829]uncertain significance1156266091156266091Humanname
407452425CV3474370single nucleotide variantNM_015327.3(SMG5):c.1757C>T (p.Thr586Ile)not specified [RCV004684037]uncertain significance1156265879156265879Humanname
407495244CV3474372single nucleotide variantNM_015327.3(SMG5):c.2368G>A (p.Val790Ile)not specified [RCV004667830]uncertain significance1156259079156259079Humanname
407452429CV3474373single nucleotide variantNM_015327.3(SMG5):c.1087C>T (p.Leu363Phe)not specified [RCV004684039]uncertain significance1156267500156267500Humanname
407495249CV3474374single nucleotide variantNM_015327.3(SMG5):c.2173A>G (p.Ser725Gly)not specified [RCV004667831]uncertain significance1156260561156260561Humanname
597726955CV3597090single nucleotide variantNM_015327.3(SMG5):c.1055A>T (p.Asp352Val)not specified [RCV004862626]uncertain significance1156267532156267532Humanname
597743724CV3597091single nucleotide variantNM_015327.3(SMG5):c.2983G>A (p.Ala995Thr)not specified [RCV004865320]uncertain significance1156250655156250655Humanname
597743736CV3597093single nucleotide variantNM_015327.3(SMG5):c.2114C>T (p.Ala705Val)not specified [RCV004865322]uncertain significance1156260620156260620Humanname
597726962CV3597094single nucleotide variantNM_015327.3(SMG5):c.1040A>G (p.Tyr347Cys)not specified [RCV004862627]uncertain significance1156267547156267547Humanname
597743741CV3597095single nucleotide variantNM_015327.3(SMG5):c.2237G>A (p.Arg746His)not specified [RCV004865323]uncertain significance1156260497156260497Humanname
597743751CV3597097single nucleotide variantNM_015327.3(SMG5):c.1301A>G (p.Asp434Gly)not specified [RCV004865325]likely benign1156266335156266335Humanname
597726968CV3597098single nucleotide variantNM_015327.3(SMG5):c.2881G>A (p.Ala961Thr)not specified [RCV004862628]uncertain significance1156250944156250944Humanname
597743757CV3597099single nucleotide variantNM_015327.3(SMG5):c.1058T>G (p.Leu353Arg)not specified [RCV004865326]uncertain significance1156267529156267529Humanname
597743763CV3597100single nucleotide variantNM_015327.3(SMG5):c.2236C>T (p.Arg746Cys)not specified [RCV004865327]uncertain significance1156260498156260498Humanname
597743768CV3597101single nucleotide variantNM_015327.3(SMG5):c.2033G>A (p.Ser678Asn)not specified [RCV004865328]uncertain significance1156261407156261407Humanname
597743774CV3597102single nucleotide variantNM_015327.3(SMG5):c.1879G>A (p.Glu627Lys)not specified [RCV004865329]uncertain significance1156263547156263547Humanname
597743780CV3597103single nucleotide variantNM_015327.3(SMG5):c.1381C>T (p.Arg461Cys)not specified [RCV004865330]uncertain significance1156266255156266255Humanname
597726976CV3597104single nucleotide variantNM_015327.3(SMG5):c.1900C>T (p.Arg634Cys)not specified [RCV004862629]uncertain significance1156263526156263526Humanname
597726984CV3597105single nucleotide variantNM_015327.3(SMG5):c.1081A>G (p.Ile361Val)not specified [RCV004862630]uncertain significance1156267506156267506Humanname
597726993CV3597106single nucleotide variantNM_015327.3(SMG5):c.1165T>A (p.Ser389Thr)not specified [RCV004862631]uncertain significance1156266631156266631Humanname
598271898CV3915068single nucleotide variantNM_015327.3(SMG5):c.1565G>A (p.Arg522Gln)not specified [RCV005282487]uncertain significance1156266071156266071Humanname
598238165CV3915070single nucleotide variantNM_015327.3(SMG5):c.2900G>A (p.Ser967Asn)not specified [RCV005275787]uncertain significance1156250925156250925Humanname
598271909CV3915071single nucleotide variantNM_015327.3(SMG5):c.2369T>C (p.Val790Ala)not specified [RCV005282489]uncertain significance1156259078156259078Humanname
598271918CV3915073single nucleotide variantNM_015327.3(SMG5):c.2924G>A (p.Gly975Asp)not specified [RCV005282491]uncertain significance1156250901156250901Humanname
598271928CV3915075single nucleotide variantNM_015327.3(SMG5):c.1949T>C (p.Met650Thr)not specified [RCV005282493]uncertain significance1156263477156263477Humanname
15189078CV696155single nucleotide variantNM_015327.3(SMG5):c.1627C>T (p.Arg543Trp)not provided [RCV000954070]benign1156266009156266009Humanname
8628975CV84118single nucleotide variantNM_015327.2(SMG5):c.1646C>T (p.Pro549Leu)Malignant melanoma [RCV000064199]not provided1156265990156265990Humanname