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Variants search result for Homo sapiens
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149 records found for search term Eef2k
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405768253CV3248379single nucleotide variantNM_013302.5(EEF2K):c.25C>T (p.Arg9Cys)not specified [RCV004384672]uncertain significance162222575422225754Humanname
598166391CV3964696single nucleotide variantNM_013302.5(EEF2K):c.26G>A (p.Arg9His)not specified [RCV005329871]uncertain significance162222575522225755Humanname
156040484CV2279120single nucleotide variantNM_013302.5(EEF2K):c.88G>A (p.Asp30Asn)not specified [RCV004145783]uncertain significance162222581722225817Humanname
401772304CV2712651single nucleotide variantNM_013302.5(EEF2K):c.82G>C (p.Asp28His)not specified [RCV004307973]uncertain significance162222581122225811Humanname
156253216CV2193000single nucleotide variantNM_013302.5(EEF2K):c.291C>A (p.Asp97Glu)not specified [RCV004069552]uncertain significance162224467422244674Humanname
156161419CV2323447single nucleotide variantNM_013302.5(EEF2K):c.281A>C (p.His94Pro)not specified [RCV004165664]uncertain significance162224466422244664Humanname
329376426CV2467529single nucleotide variantNM_013302.5(EEF2K):c.140G>C (p.Ser47Thr)not specified [RCV004287129]uncertain significance162222586922225869Humanname
401781628CV2722194single nucleotide variantNM_013302.5(EEF2K):c.188T>C (p.Leu63Pro)not specified [RCV004328760]uncertain significance162222591722225917Humanname
401938580CV2807726single nucleotide variantNM_013302.5(EEF2K):c.1443A>G (p.Val481=)not provided [RCV003417678]likely benign162226639222266392Humanname
597645040CV3664095single nucleotide variantNM_013302.5(EEF2K):c.262G>A (p.Ala88Thr)not specified [RCV004909731]uncertain significance162224464522244645Humanname
598166376CV3964694single nucleotide variantNM_013302.5(EEF2K):c.196A>C (p.Ser66Arg)not specified [RCV005329869]uncertain significance162222592522225925Humanname
156174023CV2247639single nucleotide variantNM_013302.5(EEF2K):c.817G>A (p.Val273Met)not specified [RCV004110973]uncertain significance162225730122257301Humanname
155925911CV2258651single nucleotide variantNM_013302.5(EEF2K):c.533G>A (p.Arg178Gln)not specified [RCV004117905]uncertain significance162225123722251237Humanname
156256169CV2277565single nucleotide variantNM_013302.5(EEF2K):c.861C>G (p.Ile287Met)not specified [RCV004145251]uncertain significance162225734522257345Humanname
156357419CV2318296single nucleotide variantNM_013302.5(EEF2K):c.557G>A (p.Arg186His)not specified [RCV004179467]uncertain significance162225126122251261Humanname
155967941CV2339254single nucleotide variantNM_013302.5(EEF2K):c.739C>T (p.Arg247Cys)not specified [RCV004191494]uncertain significance162225686822256868Humanname
156010171CV2362089single nucleotide variantNM_013302.5(EEF2K):c.614A>G (p.Lys205Arg)not specified [RCV004209896]uncertain significance162225131822251318Humanname
156213424CV2385849single nucleotide variantNM_013302.5(EEF2K):c.977T>C (p.Phe326Ser)not specified [RCV004226895]uncertain significance162225771822257718Humanname
156043229CV2387951single nucleotide variantNM_013302.5(EEF2K):c.761C>T (p.Thr254Met)not specified [RCV004236490]uncertain significance162225689022256890Humanname
155966201CV2396040single nucleotide variantNM_013302.5(EEF2K):c.526G>A (p.Val176Ile)not specified [RCV004237580]uncertain significance162225123022251230Humanname
329392595CV2439058single nucleotide variantNM_013302.5(EEF2K):c.989C>T (p.Pro330Leu)not specified [RCV004266351]uncertain significance162225773022257730Humanname
401728016CV2675912single nucleotide variantNM_013302.5(EEF2K):c.415G>A (p.Gly139Ser)not specified [RCV004281911]uncertain significance162225066022250660Humanname
401744220CV2696960single nucleotide variantNM_013302.5(EEF2K):c.536A>G (p.Asp179Gly)not specified [RCV004292953]uncertain significance162225124022251240Humanname
401759990CV2698700single nucleotide variantNM_013302.5(EEF2K):c.947G>T (p.Arg316Leu)not specified [RCV004301162]uncertain significance162225768822257688Humanname
401738044CV2714301single nucleotide variantNM_013302.5(EEF2K):c.749A>T (p.Asn250Ile)not specified [RCV004315984]uncertain significance162225687822256878Humanname
401783471CV2723605single nucleotide variantNM_013302.5(EEF2K):c.788T>C (p.Phe263Ser)not specified [RCV004323996]uncertain significance162225727222257272Humanname
401723648CV2724979single nucleotide variantNM_013302.5(EEF2K):c.871A>G (p.Thr291Ala)not specified [RCV004319742]uncertain significance162225735522257355Humanname
401889772CV2758460single nucleotide variantNM_013302.5(EEF2K):c.764C>T (p.Pro255Leu)not specified [RCV004335110]uncertain significance162225689322256893Humanname
401887251CV2773263single nucleotide variantNM_013302.5(EEF2K):c.689A>G (p.His230Arg)not specified [RCV004353935]uncertain significance162225681822256818Humanname
405768259CV3248380single nucleotide variantNM_013302.5(EEF2K):c.341G>A (p.Arg114Gln)not specified [RCV004384673]uncertain significance162224472422244724Humanname
405768265CV3248381single nucleotide variantNM_013302.5(EEF2K):c.473C>A (p.Ala158Asp)not specified [RCV004384674]uncertain significance162225117722251177Humanname
405768271CV3248382single nucleotide variantNM_013302.5(EEF2K):c.590A>G (p.Glu197Gly)not specified [RCV004384675]uncertain significance162225129422251294Humanname
405768278CV3248383single nucleotide variantNM_013302.5(EEF2K):c.662C>G (p.Pro221Arg)not specified [RCV004384676]uncertain significance162225679122256791Humanname
405768284CV3248384single nucleotide variantNM_013302.5(EEF2K):c.866C>T (p.Thr289Met)not specified [RCV004384677]uncertain significance162225735022257350Humanname
405768293CV3248385single nucleotide variantNM_013302.5(EEF2K):c.946C>T (p.Arg316Trp)not specified [RCV004384678]uncertain significance162225768722257687Humanname
405768299CV3248386single nucleotide variantNM_013302.5(EEF2K):c.992G>A (p.Arg331Gln)not specified [RCV004384679]uncertain significance162225773322257733Humanname
407479058CV3441626single nucleotide variantNM_013302.5(EEF2K):c.338C>T (p.Thr113Ile)not specified [RCV004617673]uncertain significance162224472122244721Humanname
407479068CV3441628single nucleotide variantNM_013302.5(EEF2K):c.761C>A (p.Thr254Lys)not specified [RCV004617675]uncertain significance162225689022256890Humanname
407479073CV3441630single nucleotide variantNM_013302.5(EEF2K):c.506C>T (p.Ala169Val)not specified [RCV004617677]uncertain significance162225121022251210Humanname
597644956CV3664082single nucleotide variantNM_013302.5(EEF2K):c.488G>T (p.Gly163Val)not specified [RCV004909719]uncertain significance162225119222251192Humanname
597644976CV3664085single nucleotide variantNM_013302.5(EEF2K):c.511C>T (p.Arg171Cys)not specified [RCV004909722]uncertain significance162225121522251215Humanname
597644989CV3664087single nucleotide variantNM_013302.5(EEF2K):c.535G>A (p.Asp179Asn)not specified [RCV004909724]uncertain significance162225123922251239Humanname
597645004CV3664089single nucleotide variantNM_013302.5(EEF2K):c.747C>G (p.Asp249Glu)not specified [RCV004909726]uncertain significance162225687622256876Humanname
597645011CV3664090single nucleotide variantNM_013302.5(EEF2K):c.902G>A (p.Gly301Asp)not specified [RCV004909727]uncertain significance162225764322257643Humanname
597645018CV3664092single nucleotide variantNM_013302.5(EEF2K):c.332G>A (p.Arg111His)not specified [RCV004909728]uncertain significance162224471522244715Humanname
598166424CV3964701single nucleotide variantNM_013302.5(EEF2K):c.671C>T (p.Pro224Leu)not specified [RCV005329876]uncertain significance162225680022256800Humanname
598166451CV3964705single nucleotide variantNM_013302.5(EEF2K):c.699G>T (p.Glu233Asp)not specified [RCV005329880]uncertain significance162225682822256828Humanname
156260591CV2204827single nucleotide variantNM_013302.5(EEF2K):c.1324G>A (p.Gly442Arg)not specified [RCV004075081]uncertain significance162226313422263134Humanname
156118447CV2209259single nucleotide variantNM_013302.5(EEF2K):c.1609G>A (p.Gly537Arg)not specified [RCV004093445]uncertain significance162226672122266721Humanname
156113361CV2224802single nucleotide variantNM_013302.5(EEF2K):c.1750G>A (p.Asp584Asn)not specified [RCV004092907]uncertain significance162226686222266862Humanname
156223176CV2232927single nucleotide variantNM_013302.5(EEF2K):c.1930G>A (p.Ala644Thr)not specified [RCV004103308]uncertain significance162228023822280238Humanname
156230613CV2235075single nucleotide variantNM_013302.5(EEF2K):c.1146C>G (p.Asp382Glu)not specified [RCV004113256]uncertain significance162225861022258610Humanname
155993880CV2252406single nucleotide variantNM_013302.5(EEF2K):c.1057A>C (p.Thr353Pro)not specified [RCV004116247]uncertain significance162225852122258521Humanname
155993417CV2281315single nucleotide variantNM_013302.5(EEF2K):c.1343G>A (p.Arg448Gln)not specified [RCV004147546]uncertain significance162226315322263153Humanname
156050871CV2328912single nucleotide variantNM_013302.5(EEF2K):c.1088G>C (p.Arg363Thr)not specified [RCV004180217]uncertain significance162225855222258552Humanname
156083747CV2330744single nucleotide variantNM_013302.5(EEF2K):c.2041G>A (p.Gly681Arg)not specified [RCV004185808]uncertain significance162228034922280349Humanname
156291715CV2339899single nucleotide variantNM_013302.5(EEF2K):c.1342C>G (p.Arg448Gly)not specified [RCV004190004]uncertain significance162226315222263152Humanname
156343619CV2349187single nucleotide variantNM_013302.5(EEF2K):c.1402T>C (p.Tyr468His)not specified [RCV004199146]uncertain significance162226484222264842Humanname
156190721CV2356772single nucleotide variantNM_013302.5(EEF2K):c.1292A>G (p.Asn431Ser)not specified [RCV004202116]uncertain significance162226052222260522Humanname
156142205CV2358473single nucleotide variantNM_013302.5(EEF2K):c.1345G>A (p.Gly449Ser)not specified [RCV004207363]uncertain significance162226315522263155Humanname
155930678CV2366882single nucleotide variantNM_013302.5(EEF2K):c.1969G>A (p.Asp657Asn)not specified [RCV004212910]uncertain significance162228027722280277Humanname
155954897CV2389841single nucleotide variantNM_013302.5(EEF2K):c.1504G>A (p.Val502Met)not specified [RCV004236061]uncertain significance162226645322266453Humanname
155930998CV2399763single nucleotide variantNM_013302.5(EEF2K):c.1991G>A (p.Arg664Gln)not specified [RCV004245577]uncertain significance162228029922280299Humanname
329360268CV2446572single nucleotide variantNM_013302.5(EEF2K):c.1430G>A (p.Ser477Asn)not specified [RCV004251465]uncertain significance162226487022264870Humanname
329372959CV2451744single nucleotide variantNM_013302.5(EEF2K):c.1458G>T (p.Trp486Cys)not specified [RCV004274646]uncertain significance162226640722266407Humanname
329353173CV2471526single nucleotide variantNM_013302.5(EEF2K):c.1267T>C (p.Ser423Pro)not specified [RCV004280515]likely benign162226049722260497Humanname
401733138CV2685438single nucleotide variantNM_013302.5(EEF2K):c.1298G>A (p.Arg433Gln)not specified [RCV004294468]uncertain significance162226052822260528Humanname
401783107CV2716132single nucleotide variantNM_013302.5(EEF2K):c.2110A>G (p.Met704Val)not specified [RCV004323371]uncertain significance162228392822283928Humanname
405768196CV3248370single nucleotide variantNM_013302.5(EEF2K):c.1054G>C (p.Gly352Arg)not specified [RCV004384663]uncertain significance162225851822258518Humanname
405768202CV3248371single nucleotide variantNM_013302.5(EEF2K):c.1091C>A (p.Thr364Asn)not specified [RCV004384664]uncertain significance162225855522258555Humanname
405768207CV3248372single nucleotide variantNM_013302.5(EEF2K):c.1211G>A (p.Ser404Asn)not specified [RCV004384665]uncertain significance162225867522258675Humanname
405768214CV3248373single nucleotide variantNM_013302.5(EEF2K):c.1298G>T (p.Arg433Leu)not specified [RCV004384666]uncertain significance162226052822260528Humanname
405768220CV3248374single nucleotide variantNM_013302.5(EEF2K):c.1477C>T (p.Arg493Cys)not specified [RCV004384667]uncertain significance162226642622266426Humanname
405768226CV3248375single nucleotide variantNM_013302.5(EEF2K):c.1490C>T (p.Pro497Leu)not specified [RCV004384668]uncertain significance162226643922266439Humanname
405768240CV3248377single nucleotide variantNM_013302.5(EEF2K):c.1711G>A (p.Gly571Arg)not specified [RCV004384670]uncertain significance162226682322266823Humanname
405768247CV3248378single nucleotide variantNM_013302.5(EEF2K):c.1724C>T (p.Ser575Leu)not specified [RCV004384671]uncertain significance162226683622266836Humanname
407479053CV3441625single nucleotide variantNM_013302.5(EEF2K):c.1603G>A (p.Glu535Lys)not specified [RCV004617672]uncertain significance162226671522266715Humanname
407479061CV3441627single nucleotide variantNM_013302.5(EEF2K):c.1155G>A (p.Met385Ile)not specified [RCV004617674]uncertain significance162225861922258619Humanname
597644962CV3664083single nucleotide variantNM_013302.5(EEF2K):c.1613G>A (p.Arg538His)not specified [RCV004909720]uncertain significance162226672522266725Humanname
597644968CV3664084single nucleotide variantNM_013302.5(EEF2K):c.1990C>T (p.Arg664Trp)not specified [RCV004909721]uncertain significance162228029822280298Humanname
597644983CV3664086single nucleotide variantNM_013302.5(EEF2K):c.1387T>C (p.Tyr463His)not specified [RCV004909723]uncertain significance162226482722264827Humanname
597644996CV3664088single nucleotide variantNM_013302.5(EEF2K):c.1397G>A (p.Arg466Gln)not specified [RCV004909725]uncertain significance162226483722264837Humanname
597736197CV3664091single nucleotide variantNM_013302.5(EEF2K):c.1275C>A (p.Asp425Glu)not specified [RCV004920599]uncertain significance162226050522260505Humanname
597645024CV3664093single nucleotide variantNM_013302.5(EEF2K):c.1672G>A (p.Ala558Thr)not specified [RCV004909729]uncertain significance162226678422266784Humanname
597645033CV3664094single nucleotide variantNM_013302.5(EEF2K):c.1103G>A (p.Ser368Asn)not specified [RCV004909730]uncertain significance162225856722258567Humanname
597645047CV3664096single nucleotide variantNM_013302.5(EEF2K):c.1571G>A (p.Gly524Glu)not specified [RCV004909732]uncertain significance162226652022266520Humanname
598166382CV3964695single nucleotide variantNM_013302.5(EEF2K):c.1960G>A (p.Gly654Ser)not specified [RCV005329870]uncertain significance162228026822280268Humanname
598166398CV3964697single nucleotide variantNM_013302.5(EEF2K):c.2011G>A (p.Glu671Lys)not specified [RCV005329872]uncertain significance162228031922280319Humanname
598166405CV3964698single nucleotide variantNM_013302.5(EEF2K):c.1850C>T (p.Ala617Val)not specified [RCV005329873]uncertain significance162227371122273711Humanname
598166418CV3964700single nucleotide variantNM_013302.5(EEF2K):c.1141G>A (p.Gly381Arg)not specified [RCV005329875]uncertain significance162225860522258605Humanname
598166430CV3964702single nucleotide variantNM_013302.5(EEF2K):c.1779C>G (p.Asn593Lys)not specified [RCV005329877]uncertain significance162227364022273640Humanname
598166438CV3964703single nucleotide variantNM_013302.5(EEF2K):c.1175C>G (p.Ser392Cys)not specified [RCV005329878]uncertain significance162225863922258639Humanname
598166444CV3964704single nucleotide variantNM_013302.5(EEF2K):c.2053G>A (p.Asp685Asn)not specified [RCV005329879]uncertain significance162228036122280361Humanname
38462684CV919660single nucleotide variantNM_201400.4(EEF2KMT):c.*1074C>TALG1-congenital disorder of glycosylation [RCV001198597]benign1650845585084558Human1name
597736203CV3664098single nucleotide variantNM_201400.4(EEF2KMT):c.18C>G (p.Asn6Lys)not specified [RCV004920600]uncertain significance1650977225097722Humanname
156004733CV2290221single nucleotide variantNM_201400.4(EEF2KMT):c.89C>A (p.Pro30His)not specified [RCV004152873]uncertain significance1650976515097651Humanname
405768344CV3248393single nucleotide variantNM_201400.4(EEF2KMT):c.70C>G (p.Arg24Gly)not specified [RCV004384686]uncertain significance1650976705097670Humanname
405768367CV3248397single nucleotide variantNM_201400.4(EEF2KMT):c.88C>T (p.Pro30Ser)not specified [RCV004384690]uncertain significance1650976525097652Humanname
407479081CV3441632single nucleotide variantNM_201400.4(EEF2KMT):c.53G>A (p.Arg18His)not specified [RCV004617679]uncertain significance1650976875097687Humanname
598166457CV3964706single nucleotide variantNM_201400.4(EEF2KMT):c.98G>A (p.Ser33Asn)not specified [RCV005329881]uncertain significance1650955135095513Humanname
8635835CV91058single nucleotide variantNM_201400.3(EEF2KMT):c.948C>T (p.Pro316=)Malignant melanoma [RCV000071156]not provided1650856775085677Humanname
156201475CV2256166single nucleotide variantNM_201400.4(EEF2KMT):c.160A>T (p.Thr54Ser)not specified [RCV004116437]uncertain significance1650935645093564Humanname
156087059CV2341163single nucleotide variantNM_201400.4(EEF2KMT):c.290C>T (p.Ala97Val)not specified [RCV004181637]uncertain significance1650918465091846Humanname
156347646CV2382941single nucleotide variantNM_201400.4(EEF2KMT):c.191C>A (p.Pro64Gln)not specified [RCV004217533]uncertain significance1650935335093533Humanname
405768305CV3248387single nucleotide variantNM_201400.4(EEF2KMT):c.139C>G (p.Leu47Val)not specified [RCV004384680]uncertain significance1650954725095472Humanname
405768312CV3248388single nucleotide variantNM_201400.4(EEF2KMT):c.154C>T (p.His52Tyr)not specified [RCV004384681]uncertain significance1650954575095457Humanname
405768318CV3248389single nucleotide variantNM_201400.4(EEF2KMT):c.173C>T (p.Pro58Leu)not specified [RCV004384682]uncertain significance1650935515093551Humanname
407479094CV3441636single nucleotide variantNM_201400.4(EEF2KMT):c.163G>A (p.Val55Met)not specified [RCV004617683]uncertain significance1650935615093561Humanname
597645061CV3664099single nucleotide variantNM_201400.4(EEF2KMT):c.271G>A (p.Glu91Lys)not specified [RCV004909734]uncertain significance1650918655091865Humanname
597645067CV3664101single nucleotide variantNM_201400.4(EEF2KMT):c.169C>T (p.His57Tyr)not specified [RCV004909735]uncertain significance1650935555093555Humanname
156401203CV2210647single nucleotide variantNM_201400.4(EEF2KMT):c.809G>A (p.Arg270Gln)not specified [RCV004083791]likely benign1650891905089190Humanname
156257321CV2277654single nucleotide variantNM_201400.4(EEF2KMT):c.638C>T (p.Thr213Ile)not specified [RCV004147116]uncertain significance1650901885090188Humanname
156303338CV2331830single nucleotide variantNM_201400.4(EEF2KMT):c.712G>A (p.Ala238Thr)not specified [RCV004184445]uncertain significance1650901145090114Humanname
156202713CV2334763single nucleotide variantNM_201400.4(EEF2KMT):c.817C>A (p.Gln273Lys)not specified [RCV004188740]uncertain significance1650891825089182Humanname
155981419CV2337041single nucleotide variantNM_201400.4(EEF2KMT):c.649G>C (p.Asp217His)not specified [RCV004192808]uncertain significance1650901775090177Humanname
155978145CV2339901single nucleotide variantNM_201400.4(EEF2KMT):c.980A>C (p.Asn327Thr)not specified [RCV004190006]uncertain significance1650856455085645Humanname
156291465CV2342907single nucleotide variantNM_201400.4(EEF2KMT):c.545G>A (p.Arg182Gln)not specified [RCV004189939]uncertain significance1650902815090281Humanname
156064406CV2349816single nucleotide variantNM_201400.4(EEF2KMT):c.797T>C (p.Leu266Pro)not specified [RCV004204224]uncertain significance1650892025089202Humanname
156343233CV2353388single nucleotide variantNM_201400.4(EEF2KMT):c.791G>A (p.Arg264Gln)not specified [RCV004205847]likely benign1650892085089208Humanname
156059316CV2383524single nucleotide variantNM_201400.4(EEF2KMT):c.967A>G (p.Met323Val)not specified [RCV004222531]uncertain significance1650856585085658Humanname
156052003CV2386526single nucleotide variantNM_201400.4(EEF2KMT):c.886G>A (p.Glu296Lys)not specified [RCV004230883]uncertain significance1650891135089113Humanname
155969188CV2391549single nucleotide variantNM_201400.4(EEF2KMT):c.329G>A (p.Arg110Gln)not specified [RCV004239931]uncertain significance1650918075091807Humanname
329373168CV2455928single nucleotide variantNM_201400.4(EEF2KMT):c.403G>A (p.Gly135Ser)not specified [RCV004279194]uncertain significance1650905055090505Humanname
401729064CV2673140single nucleotide variantNM_201400.4(EEF2KMT):c.613G>A (p.Gly205Ser)not specified [RCV004284123]uncertain significance1650902135090213Humanname
401720672CV2673425single nucleotide variantNM_201400.4(EEF2KMT):c.781G>A (p.Gly261Arg)not specified [RCV004288399]uncertain significance1650892185089218Humanname
401743512CV2684724single nucleotide variantNM_201400.4(EEF2KMT):c.394G>A (p.Gly132Ser)not specified [RCV004293813]uncertain significance1650905145090514Humanname
401759279CV2701470single nucleotide variantNM_201400.4(EEF2KMT):c.538C>T (p.Arg180Cys)not specified [RCV004312139]uncertain significance1650902885090288Humanname
401877754CV2761300single nucleotide variantNM_201400.4(EEF2KMT):c.770T>A (p.Met257Lys)not specified [RCV004341170]uncertain significance1650892295089229Humanname
401888490CV2761544single nucleotide variantNM_201400.4(EEF2KMT):c.692C>T (p.Ala231Val)not specified [RCV004334713]likely benign1650901345090134Humanname
401876363CV2770539single nucleotide variantNM_201400.4(EEF2KMT):c.745G>A (p.Val249Met)not specified [RCV004347819]uncertain significance1650892545089254Humanname
401897598CV2776409single nucleotide variantNM_201400.4(EEF2KMT):c.353G>A (p.Gly118Asp)not specified [RCV004355535]likely benign1650905555090555Humanname
401911637CV2811056single nucleotide variantNM_201400.4(EEF2KMT):c.503C>T (p.Ala168Val)not provided [RCV003426574]likely benign1650903235090323Humanname
405768324CV3248390single nucleotide variantNM_201400.4(EEF2KMT):c.356C>T (p.Ser119Leu)not specified [RCV004384683]uncertain significance1650905525090552Humanname
405768338CV3248392single nucleotide variantNM_201400.4(EEF2KMT):c.571A>G (p.Ser191Gly)not specified [RCV004384685]uncertain significance1650902555090255Humanname
405768350CV3248394single nucleotide variantNM_201400.4(EEF2KMT):c.808C>T (p.Arg270Trp)not specified [RCV004384687]uncertain significance1650891915089191Humanname
405768356CV3248395single nucleotide variantNM_201400.4(EEF2KMT):c.811G>C (p.Glu271Gln)not specified [RCV004384688]uncertain significance1650891885089188Humanname
405768361CV3248396single nucleotide variantNM_201400.4(EEF2KMT):c.850G>A (p.Val284Ile)not specified [RCV004384689]likely benign1650891495089149Humanname
405768373CV3248398single nucleotide variantNM_201400.4(EEF2KMT):c.896G>A (p.Arg299Gln)not specified [RCV004384691]likely benign1650857295085729Humanname
407479078CV3441631single nucleotide variantNM_201400.4(EEF2KMT):c.593G>A (p.Arg198Gln)not specified [RCV004617678]uncertain significance1650902335090233Humanname
407478576CV3441633single nucleotide variantNM_201400.4(EEF2KMT):c.926G>A (p.Arg309His)not specified [RCV004617680]uncertain significance1650856995085699Humanname
407479086CV3441634single nucleotide variantNM_201400.4(EEF2KMT):c.763G>A (p.Ala255Thr)not specified [RCV004617681]likely benign1650892365089236Humanname
407479090CV3441635single nucleotide variantNM_201400.4(EEF2KMT):c.364C>A (p.Leu122Ile)not specified [RCV004617682]uncertain significance1650905445090544Humanname
597645055CV3664097single nucleotide variantNM_201400.4(EEF2KMT):c.862G>C (p.Glu288Gln)not specified [RCV004909733]uncertain significance1650891375089137Humanname
597736210CV3664100single nucleotide variantNM_201400.4(EEF2KMT):c.607C>T (p.Leu203Phe)not specified [RCV004920601]uncertain significance1650902195090219Humanname
597736216CV3664102single nucleotide variantNM_201400.4(EEF2KMT):c.866C>T (p.Thr289Met)not specified [RCV004920602]uncertain significance1650891335089133Humanname
597645073CV3664103single nucleotide variantNM_201400.4(EEF2KMT):c.385A>T (p.Ile129Phe)not specified [RCV004909736]uncertain significance1650905235090523Humanname
598166470CV3964708single nucleotide variantNM_201400.4(EEF2KMT):c.901G>A (p.Gly301Arg)not specified [RCV005329883]uncertain significance1650857245085724Humanname
598166476CV3964709single nucleotide variantNM_201400.4(EEF2KMT):c.398C>G (p.Thr133Ser)not specified [RCV005329884]uncertain significance1650905105090510Humanname
8635836CV91059single nucleotide variantNM_201400.3(EEF2KMT):c.697G>A (p.Val233Ile)Malignant melanoma [RCV000071157]not provided1650901295090129Humanname