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205 records found for search term Tnrc6a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15201666CV778289single nucleotide variantNM_014494.4(TNRC6A):c.4540+9C>Gnot provided [RCV000957689]likely benign162480679324806793Humanname
151663189CV1333816single nucleotide variantNM_014494.4(TNRC6A):c.4122+20A>GEpilepsy, familial adult myoclonic, 6 [RCV001838909]|not provided [RCV004715584]benign162480517124805171Human1name
153301040CV1688880single nucleotide variantNM_014494.4(TNRC6A):c.3838-10G>TEpilepsy, familial adult myoclonic, 6 [RCV002266608]uncertain significance162480469524804695Human1name
15159238CV780012single nucleotide variantNM_014494.4(TNRC6A):c.4329+10G>Anot provided [RCV000969672]benign162480629324806293Humanname
401938591CV2807749single nucleotide variantNM_014494.4(TNRC6A):c.285A>G (p.Pro95=)not provided [RCV003417689]likely benign162477705424777054Humanname
15122002CV714816single nucleotide variantNM_014494.4(TNRC6A):c.459G>A (p.Gln153=)not provided [RCV000962998]benign162477722824777228Humanname
126910070CV1038421single nucleotide variantNM_014494.4(TNRC6A):c.1182G>A (p.Gln394=)not provided [RCV001354339]uncertain significance162478982424789824Humanname
151663186CV1333814single nucleotide variantNM_014494.4(TNRC6A):c.2016C>T (p.Ser672=)Epilepsy, familial adult myoclonic, 6 [RCV001838907]|not provided [RCV004715582]benign162479065824790658Human3name
151663186CV1333814single nucleotide variantNM_014494.4(TNRC6A):c.2016C>T (p.Ser672=)Epilepsy, familial adult myoclonic, 6 [RCV001838907]|not provided [RCV004715582]benign162479065824790659Human3name
156116808CV2283017single nucleotide variantNM_014494.4(TNRC6A):c.175A>T (p.Ile59Leu)not specified [RCV004143640]uncertain significance162477694424776944Humanname
156356623CV2320824single nucleotide variantNM_014494.4(TNRC6A):c.185G>C (p.Ser62Thr)not specified [RCV004172656]uncertain significance162477695424776954Humanname
401862435CV2762080single nucleotide variantNM_014494.4(TNRC6A):c.158T>C (p.Ile53Thr)not specified [RCV004341897]uncertain significance162475835524758355Humanname
401943688CV2840144single nucleotide variantNM_014494.4(TNRC6A):c.2241C>T (p.Asp747=)not provided [RCV003456924]likely benign162479088324790883Humanname
405795572CV3336522single nucleotide variantNM_014494.4(TNRC6A):c.219C>G (p.Asn73Lys)not specified [RCV004475575]uncertain significance162477698824776988Humanname
407531258CV3479433single nucleotide variantNM_014494.4(TNRC6A):c.109G>A (p.Asp37Asn)not specified [RCV004682316]uncertain significance162475078124750781Humanname
407531262CV3479435single nucleotide variantNM_014494.4(TNRC6A):c.188T>G (p.Val63Gly)not specified [RCV004682318]uncertain significance162477695724776957Humanname
597676962CV3617249single nucleotide variantNM_014494.4(TNRC6A):c.254C>T (p.Ala85Val)not specified [RCV004883135]uncertain significance162477702324777023Humanname
597676989CV3617252single nucleotide variantNM_014494.4(TNRC6A):c.275A>G (p.Asn92Ser)not specified [RCV004883138]uncertain significance162477704424777044Humanname
597677029CV3617256single nucleotide variantNM_014494.4(TNRC6A):c.241A>G (p.Thr81Ala)not specified [RCV004883142]uncertain significance162477701024777010Humanname
597677089CV3617263single nucleotide variantNM_014494.4(TNRC6A):c.2406G>T (p.Gly802=)not specified [RCV004883148]likely benign162479104824791048Humanname
597677429CV3617273single nucleotide variantNM_014494.4(TNRC6A):c.118A>G (p.Lys40Glu)not specified [RCV004883157]uncertain significance162475079024750790Humanname
597677509CV3617282single nucleotide variantNM_014494.4(TNRC6A):c.227C>T (p.Ser76Phe)not specified [RCV004883165]uncertain significance162477699624776996Humanname
598253874CV3931580single nucleotide variantNM_014494.4(TNRC6A):c.260G>A (p.Arg87Gln)not specified [RCV005278325]uncertain significance162477702924777029Humanname
598186780CV3931603single nucleotide variantNM_014494.4(TNRC6A):c.209A>G (p.Asn70Ser)not specified [RCV005287641]uncertain significance162477697824776978Humanname
15154926CV726514single nucleotide variantNM_014494.4(TNRC6A):c.2403G>A (p.Gln801=)not provided [RCV000880314]benign162479104524791045Humanname
150443266CV1266371single nucleotide variantNM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys)Epilepsy, familial adult myoclonic, 6 [RCV001838792]|not provided [RCV001690807]benign162477732424777324Human8name
155952190CV2238919single nucleotide variantNM_014494.4(TNRC6A):c.670A>G (p.Asn224Asp)not specified [RCV004109822]uncertain significance162478931224789312Humanname
156068685CV2356904single nucleotide variantNM_014494.4(TNRC6A):c.391C>T (p.Arg131Trp)not specified [RCV004204279]uncertain significance162477716024777160Humanname
156345363CV2372910single nucleotide variantNM_014494.4(TNRC6A):c.956C>A (p.Ala319Asp)not specified [RCV004223955]uncertain significance162478959824789598Humanname
156209915CV2382694single nucleotide variantNM_014494.4(TNRC6A):c.406G>A (p.Val136Ile)not specified [RCV004233007]uncertain significance162477717524777175Humanname
156248893CV2394024single nucleotide variantNM_014494.4(TNRC6A):c.635G>A (p.Arg212Gln)not specified [RCV004236242]uncertain significance162478927724789277Humanname
155932207CV2399977single nucleotide variantNM_014494.4(TNRC6A):c.823A>G (p.Asn275Asp)not specified [RCV004246906]uncertain significance162478946524789465Humanname
329387511CV2470776single nucleotide variantNM_014494.4(TNRC6A):c.320A>C (p.Gln107Pro)not specified [RCV004276004]uncertain significance162477708924777089Humanname
401754084CV2715536single nucleotide variantNM_014494.4(TNRC6A):c.908A>C (p.Asn303Thr)not specified [RCV004326937]uncertain significance162478955024789550Humanname
401865568CV2755557single nucleotide variantNM_014494.4(TNRC6A):c.661T>A (p.Ser221Thr)not specified [RCV004340136]uncertain significance162478930324789303Humanname
401864744CV2761029single nucleotide variantNM_014494.4(TNRC6A):c.725C>T (p.Ala242Val)not specified [RCV004338697]likely benign162478936724789367Humanname
405795812CV3336536single nucleotide variantNM_014494.4(TNRC6A):c.575G>A (p.Ser192Asn)not specified [RCV004475589]uncertain significance162477734424777344Humanname
405795803CV3336539single nucleotide variantNM_014494.4(TNRC6A):c.707A>G (p.Lys236Arg)not specified [RCV004475592]uncertain significance162478934924789349Humanname
407531245CV3479425single nucleotide variantNM_014494.4(TNRC6A):c.830G>A (p.Gly277Asp)not specified [RCV004682310]uncertain significance162478947224789472Humanname
407531248CV3479426single nucleotide variantNM_014494.4(TNRC6A):c.554A>G (p.Asn185Ser)not specified [RCV004682311]uncertain significance162477732324777323Humanname
407531260CV3479434single nucleotide variantNM_014494.4(TNRC6A):c.795G>C (p.Glu265Asp)not specified [RCV004682317]uncertain significance162478943724789437Humanname
407508178CV3496339single nucleotide variantNM_014494.4(TNRC6A):c.3642G>A (p.Ser1214=)not provided [RCV004698180]uncertain significance162479757024797570Humanname
597676999CV3617253single nucleotide variantNM_014494.4(TNRC6A):c.473T>C (p.Ile158Thr)not specified [RCV004883139]uncertain significance162477724224777242Humanname
597677019CV3617255single nucleotide variantNM_014494.4(TNRC6A):c.740C>T (p.Pro247Leu)not specified [RCV004883141]uncertain significance162478938224789382Humanname
597677060CV3617260single nucleotide variantNM_014494.4(TNRC6A):c.382G>A (p.Ala128Thr)not specified [RCV004883145]uncertain significance162477715124777151Humanname
597677365CV3617266single nucleotide variantNM_014494.4(TNRC6A):c.985G>A (p.Asp329Asn)not specified [RCV004883151]uncertain significance162478962724789627Humanname
597677518CV3617283single nucleotide variantNM_014494.4(TNRC6A):c.788A>C (p.Glu263Ala)not specified [RCV004883166]uncertain significance162478943024789430Humanname
597677530CV3617284single nucleotide variantNM_014494.4(TNRC6A):c.781A>T (p.Ser261Cys)not specified [RCV004883167]uncertain significance162478942324789423Humanname
598253885CV3931586single nucleotide variantNM_014494.4(TNRC6A):c.701C>G (p.Ser234Trp)not specified [RCV005278327]uncertain significance162478934324789343Humanname
598186723CV3931590single nucleotide variantNM_014494.4(TNRC6A):c.710A>C (p.Glu237Ala)not specified [RCV005287632]uncertain significance162478935224789352Humanname
598186797CV3931606single nucleotide variantNM_014494.4(TNRC6A):c.370C>A (p.Gln124Lys)not specified [RCV005287644]uncertain significance162477713924777139Humanname
15197199CV726515single nucleotide variantNM_014494.4(TNRC6A):c.3009T>C (p.Asp1003=)not provided [RCV000889989]benign162479165124791651Humanname
151663184CV1333813single nucleotide variantNM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr)Epilepsy, familial adult myoclonic, 6 [RCV001838906]|not provided [RCV004715581]benign162479041624790416Human8name
151663184CV1333813single nucleotide variantNM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr)Epilepsy, familial adult myoclonic, 6 [RCV001838906]|not provided [RCV004715581]benign162479041624790417Human8name
151663188CV1333815single nucleotide variantNM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser)Epilepsy, familial adult myoclonic, 6 [RCV001838908]|not provided [RCV004715583]benign162479100424791004Human1name
156240666CV2213713single nucleotide variantNM_014494.4(TNRC6A):c.2863T>C (p.Ser955Pro)not specified [RCV004089786]uncertain significance162479150524791505Humanname
155983125CV2233268single nucleotide variantNM_014494.4(TNRC6A):c.2766G>C (p.Trp922Cys)not specified [RCV004105653]uncertain significance162479140824791408Humanname
156095492CV2253036single nucleotide variantNM_014494.4(TNRC6A):c.1658C>T (p.Pro553Leu)not specified [RCV004120829]uncertain significance162479030024790300Humanname
156188940CV2258454single nucleotide variantNM_014494.4(TNRC6A):c.1915A>G (p.Asn639Asp)not specified [RCV004115646]uncertain significance162479055724790557Humanname
155963837CV2282779single nucleotide variantNM_014494.4(TNRC6A):c.1903A>G (p.Lys635Glu)not specified [RCV004141633]uncertain significance162479054524790545Humanname
156351444CV2323760single nucleotide variantNM_014494.4(TNRC6A):c.1430G>A (p.Ser477Asn)not specified [RCV004176312]uncertain significance162479007224790072Humanname
156303509CV2331915single nucleotide variantNM_014494.4(TNRC6A):c.2990G>A (p.Arg997His)not specified [RCV004186569]uncertain significance162479163224791632Humanname
156062083CV2351380single nucleotide variantNM_014494.4(TNRC6A):c.2353G>A (p.Asp785Asn)not specified [RCV004193073]uncertain significance162479099524790995Humanname
155935749CV2379698single nucleotide variantNM_014494.4(TNRC6A):c.2243A>G (p.Asn748Ser)not specified [RCV004219819]uncertain significance162479088524790885Humanname
156069140CV2381219single nucleotide variantNM_014494.4(TNRC6A):c.1568G>T (p.Gly523Val)not specified [RCV004227287]uncertain significance162479021024790210Humanname
156262541CV2391597single nucleotide variantNM_014494.4(TNRC6A):c.1451G>A (p.Arg484His)not specified [RCV004239975]uncertain significance162479009324790093Humanname
329383288CV2434492single nucleotide variantNM_014494.4(TNRC6A):c.2749A>G (p.Thr917Ala)not specified [RCV004254199]uncertain significance162479139124791391Humanname
329400708CV2438684single nucleotide variantNM_014494.4(TNRC6A):c.2405G>T (p.Gly802Val)not specified [RCV004261843]uncertain significance162479104724791047Humanname
329400899CV2445841single nucleotide variantNM_014494.4(TNRC6A):c.1164T>G (p.Ser388Arg)not specified [RCV004270460]uncertain significance162478980624789806Humanname
329378265CV2446911single nucleotide variantNM_014494.4(TNRC6A):c.1759G>A (p.Gly587Arg)not specified [RCV004257757]uncertain significance162479040124790401Humanname
329373380CV2447220single nucleotide variantNM_014494.4(TNRC6A):c.1763G>A (p.Ser588Asn)not provided [RCV005412524]|not specified [RCV004262517]likely benign|uncertain significance162479040524790405Humanname
329388925CV2448503single nucleotide variantNM_014494.4(TNRC6A):c.1832A>G (p.Asn611Ser)not specified [RCV004259189]uncertain significance162479047424790474Humanname
329357576CV2453663single nucleotide variantNM_014494.4(TNRC6A):c.1460C>T (p.Thr487Ile)not specified [RCV004269319]uncertain significance162479010224790102Humanname
329377987CV2460953single nucleotide variantNM_014494.4(TNRC6A):c.1010G>A (p.Ser337Asn)not specified [RCV004265113]uncertain significance162478965224789652Humanname
329369840CV2461244single nucleotide variantNM_014494.4(TNRC6A):c.2704A>G (p.Ile902Val)not specified [RCV004267428]uncertain significance162479134624791346Humanname
329374310CV2463511single nucleotide variantNM_014494.4(TNRC6A):c.2435G>T (p.Gly812Val)not specified [RCV004277327]uncertain significance162479107724791077Humanname
401729816CV2686958single nucleotide variantNM_014494.4(TNRC6A):c.2987G>A (p.Arg996His)not specified [RCV004304290]uncertain significance162479162924791629Humanname
401765582CV2725243single nucleotide variantNM_014494.4(TNRC6A):c.2482G>A (p.Ala828Thr)not specified [RCV004321755]uncertain significance162479112424791124Humanname
401856209CV2761310single nucleotide variantNM_014494.4(TNRC6A):c.1115T>C (p.Val372Ala)not provided [RCV004697284]|not specified [RCV004341178]uncertain significance162478975724789757Humanname
401890603CV2778248single nucleotide variantNM_014494.4(TNRC6A):c.1337T>C (p.Ile446Thr)not specified [RCV004350310]uncertain significance162478997924789979Humanname
401881777CV2783954single nucleotide variantNM_014494.4(TNRC6A):c.2009T>A (p.Val670Glu)not specified [RCV004362374]uncertain significance162479065124790651Humanname
401882993CV2788704single nucleotide variantNM_014494.4(TNRC6A):c.1292T>A (p.Val431Glu)not specified [RCV004361182]uncertain significance162478993424789934Humanname
401895188CV2789762single nucleotide variantNM_014494.4(TNRC6A):c.2180C>G (p.Pro727Arg)not specified [RCV004361872]uncertain significance162479082224790822Humanname
401903104CV2807750single nucleotide variantNM_014494.4(TNRC6A):c.2464T>C (p.Cys822Arg)not provided [RCV003419261]likely benign162479110624791106Humanname
405260790CV3185916single nucleotide variantNM_014494.4(TNRC6A):c.1733C>T (p.Ala578Val)not provided [RCV003884992]|not specified [RCV004676325]likely benign|uncertain significance162479037524790375Humanname
405795540CV3336512single nucleotide variantNM_014494.4(TNRC6A):c.1100A>G (p.His367Arg)not specified [RCV004475565]uncertain significance162478974224789742Humanname
405795543CV3336513single nucleotide variantNM_014494.4(TNRC6A):c.1380G>C (p.Met460Ile)not specified [RCV004475566]uncertain significance162479002224790022Humanname
405795546CV3336514single nucleotide variantNM_014494.4(TNRC6A):c.1462A>G (p.Met488Val)not specified [RCV004475567]uncertain significance162479010424790104Humanname
405795549CV3336515single nucleotide variantNM_014494.4(TNRC6A):c.1612A>G (p.Asn538Asp)not specified [RCV004475568]uncertain significance162479025424790254Humanname
405795552CV3336516single nucleotide variantNM_014494.4(TNRC6A):c.1672C>T (p.Pro558Ser)not specified [RCV004475569]uncertain significance162479031424790314Humanname
405795555CV3336517single nucleotide variantNM_014494.4(TNRC6A):c.1708G>A (p.Gly570Arg)not specified [RCV004475570]uncertain significance162479035024790350Humanname
405795558CV3336518single nucleotide variantNM_014494.4(TNRC6A):c.1793G>A (p.Arg598Gln)not specified [RCV004475571]uncertain significance162479043524790435Humanname
405795561CV3336519single nucleotide variantNM_014494.4(TNRC6A):c.1829C>G (p.Thr610Ser)not specified [RCV004475572]uncertain significance162479047124790471Humanname
405795565CV3336520single nucleotide variantNM_014494.4(TNRC6A):c.1951T>C (p.Ser651Pro)not specified [RCV004475573]uncertain significance162479059324790593Humanname
405795568CV3336521single nucleotide variantNM_014494.4(TNRC6A):c.1957A>G (p.Thr653Ala)not specified [RCV004475574]uncertain significance162479059924790599Humanname
405795575CV3336523single nucleotide variantNM_014494.4(TNRC6A):c.2353G>T (p.Asp785Tyr)not specified [RCV004475576]uncertain significance162479099524790995Humanname
405795578CV3336524single nucleotide variantNM_014494.4(TNRC6A):c.2906G>C (p.Gly969Ala)not specified [RCV004475577]uncertain significance162479154824791548Humanname
407531243CV3479424single nucleotide variantNM_014494.4(TNRC6A):c.1466A>G (p.Asn489Ser)not specified [RCV004682309]uncertain significance162479010824790108Humanname
407531250CV3479427single nucleotide variantNM_014494.4(TNRC6A):c.1772G>A (p.Gly591Asp)not specified [RCV004682312]uncertain significance162479041424790414Humanname
407459117CV3479430single nucleotide variantNM_014494.4(TNRC6A):c.1054T>C (p.Ser352Pro)not specified [RCV004687028]uncertain significance162478969624789696Humanname
407531267CV3479438single nucleotide variantNM_014494.4(TNRC6A):c.1942G>A (p.Asp648Asn)not specified [RCV004682321]uncertain significance162479058424790584Humanname
407531273CV3479441single nucleotide variantNM_014494.4(TNRC6A):c.2510A>G (p.Gln837Arg)not specified [RCV004682324]uncertain significance162479115224791152Humanname
597676946CV3617247single nucleotide variantNM_014494.4(TNRC6A):c.2384C>T (p.Ser795Phe)not specified [RCV004883133]uncertain significance162479102624791026Humanname
597676956CV3617248single nucleotide variantNM_014494.4(TNRC6A):c.2071C>G (p.Gln691Glu)not specified [RCV004883134]uncertain significance162479071324790713Humanname
597676971CV3617250single nucleotide variantNM_014494.4(TNRC6A):c.1984G>T (p.Val662Leu)not specified [RCV004883136]uncertain significance162479062624790626Humanname
597677009CV3617254single nucleotide variantNM_014494.4(TNRC6A):c.2206A>G (p.Thr736Ala)not specified [RCV004883140]uncertain significance162479084824790848Humanname
597677343CV3617264single nucleotide variantNM_014494.4(TNRC6A):c.1925A>C (p.Lys642Thr)not specified [RCV004883149]uncertain significance162479056724790567Humanname
597677449CV3617275single nucleotide variantNM_014494.4(TNRC6A):c.1495A>G (p.Met499Val)not specified [RCV004883159]uncertain significance162479013724790137Humanname
597677539CV3617285single nucleotide variantNM_014494.4(TNRC6A):c.2525G>C (p.Gly842Ala)not specified [RCV004883168]uncertain significance162479116724791167Humanname
598186686CV3931581single nucleotide variantNM_014494.4(TNRC6A):c.2810C>T (p.Ser937Leu)not specified [RCV005287626]uncertain significance162479145224791452Humanname
598186694CV3931582single nucleotide variantNM_014494.4(TNRC6A):c.1106C>T (p.Ala369Val)not specified [RCV005287627]uncertain significance162478974824789748Humanname
598253879CV3931585single nucleotide variantNM_014494.4(TNRC6A):c.2981C>T (p.Ser994Phe)not specified [RCV005278326]uncertain significance162479162324791623Humanname
598253890CV3931588single nucleotide variantNM_014494.4(TNRC6A):c.1132C>T (p.Leu378Phe)not specified [RCV005278328]uncertain significance162478977424789774Humanname
598186730CV3931591single nucleotide variantNM_014494.4(TNRC6A):c.1733C>A (p.Ala578Glu)not specified [RCV005287633]uncertain significance162479037524790375Humanname
598186774CV3931601single nucleotide variantNM_014494.4(TNRC6A):c.1280G>T (p.Cys427Phe)not specified [RCV005287640]uncertain significance162478992224789922Humanname
598253913CV3931602single nucleotide variantNM_014494.4(TNRC6A):c.1969A>C (p.Asn657His)not specified [RCV005278332]uncertain significance162479061124790611Humanname
598186791CV3931605single nucleotide variantNM_014494.4(TNRC6A):c.1543G>A (p.Gly515Arg)not specified [RCV005287643]uncertain significance162479018524790185Humanname
598186803CV3931607single nucleotide variantNM_014494.4(TNRC6A):c.1736C>T (p.Ala579Val)not specified [RCV005287645]uncertain significance162479037824790378Humanname
616939518CV4014013single nucleotide variantNM_014494.4(TNRC6A):c.1843G>A (p.Val615Ile)not provided [RCV005413505]likely benign162479048524790485Humanname
13790667CV550118microsatelliteTNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSIONEpilepsy, familial adult myoclonic, 6 [RCV000677095]pathogenicHumanname
15167065CV703572single nucleotide variantNM_014494.4(TNRC6A):c.1675A>G (p.Met559Val)not provided [RCV000948975]benign162479031724790317Humanname
15122793CV714817single nucleotide variantNM_014494.4(TNRC6A):c.2609A>G (p.Asn870Ser)not provided [RCV000963129]likely benign162479125124791251Humanname
126911292CV1038422single nucleotide variantNM_014494.4(TNRC6A):c.5261T>C (p.Ile1754Thr)not provided [RCV001355192]uncertain significance162482031924820319Humanname
153350051CV1694083microsatelliteNM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del)Epilepsy, familial adult myoclonic, 6 [RCV002276488]uncertain significance162475080824750810Humanname
156179756CV2201684single nucleotide variantNM_014494.4(TNRC6A):c.3596C>T (p.Ala1199Val)not specified [RCV004082138]uncertain significance162479752424797524Humanname
156096196CV2210400single nucleotide variantNM_014494.4(TNRC6A):c.4734C>A (p.Asn1578Lys)not specified [RCV004089549]uncertain significance162481520824815208Humanname
156240241CV2213582single nucleotide variantNM_014494.4(TNRC6A):c.3095G>A (p.Arg1032His)not specified [RCV004089674]uncertain significance162479173724791737Humanname
156237747CV2224235single nucleotide variantNM_014494.4(TNRC6A):c.3277G>A (p.Glu1093Lys)not specified [RCV004096067]uncertain significance162479357424793574Humanname
156086019CV2244659single nucleotide variantNM_014494.4(TNRC6A):c.5702A>G (p.Asn1901Ser)not specified [RCV004102370]uncertain significance162482362024823620Humanname
156003690CV2254209single nucleotide variantNM_014494.4(TNRC6A):c.3090C>G (p.Asn1030Lys)not specified [RCV004129888]uncertain significance162479173224791732Humanname
156032855CV2259695single nucleotide variantNM_014494.4(TNRC6A):c.5642G>A (p.Arg1881Gln)not specified [RCV004116717]uncertain significance162482356024823560Humanname
156368157CV2266951single nucleotide variantNM_014494.4(TNRC6A):c.3445A>T (p.Ile1149Phe)not specified [RCV004131606]uncertain significance162479463624794636Humanname
156055682CV2269663single nucleotide variantNM_014494.4(TNRC6A):c.3146T>C (p.Ile1049Thr)not specified [RCV004126659]uncertain significance162479178824791788Humanname
155925537CV2277317single nucleotide variantNM_014494.4(TNRC6A):c.4940G>A (p.Arg1647Gln)not specified [RCV004142928]uncertain significance162481692424816924Humanname
156274127CV2293755single nucleotide variantNM_014494.4(TNRC6A):c.5042A>G (p.Tyr1681Cys)not specified [RCV004155037]uncertain significance162481866224818662Humanname
156190198CV2301710single nucleotide variantNM_014494.4(TNRC6A):c.4000A>G (p.Met1334Val)not specified [RCV004156531]uncertain significance162480502924805029Humanname
156348856CV2309114single nucleotide variantNM_014494.4(TNRC6A):c.3153C>G (p.Asn1051Lys)not specified [RCV004171473]uncertain significance162479179524791795Humanname
156191158CV2325570single nucleotide variantNM_014494.4(TNRC6A):c.3593A>C (p.Glu1198Ala)not specified [RCV004180000]uncertain significance162479752124797521Humanname
156305526CV2338823single nucleotide variantNM_014494.4(TNRC6A):c.5287G>A (p.Ala1763Thr)not specified [RCV004182379]uncertain significance162482034524820345Humanname
156347848CV2382989single nucleotide variantNM_014494.4(TNRC6A):c.3321C>A (p.Ser1107Arg)not specified [RCV004217574]uncertain significance162479361824793618Humanname
329357848CV2453708single nucleotide variantNM_014494.4(TNRC6A):c.3815A>T (p.Glu1272Val)not specified [RCV004269350]uncertain significance162480429724804297Humanname
401746707CV2678900single nucleotide variantNM_014494.4(TNRC6A):c.4293C>A (p.Ser1431Arg)not specified [RCV004292872]uncertain significance162480624724806247Humanname
401718900CV2679344single nucleotide variantNM_014494.4(TNRC6A):c.3748G>A (p.Asp1250Asn)not specified [RCV004285882]uncertain significance162480423024804230Humanname
401770813CV2685915single nucleotide variantNM_014494.4(TNRC6A):c.4894G>A (p.Val1632Ile)not specified [RCV004294890]uncertain significance162481687824816878Humanname
401732578CV2708895single nucleotide variantNM_014494.4(TNRC6A):c.3997A>T (p.Ser1333Cys)not specified [RCV004309869]uncertain significance162480502624805026Humanname
401783042CV2716101single nucleotide variantNM_014494.4(TNRC6A):c.5189C>A (p.Pro1730Gln)not specified [RCV004323345]uncertain significance162482024724820247Humanname
401754539CV2717426single nucleotide variantNM_014494.4(TNRC6A):c.4294G>A (p.Val1432Met)not specified [RCV004330250]uncertain significance162480624824806248Humanname
401773669CV2727596single nucleotide variantNM_014494.4(TNRC6A):c.3791A>C (p.Gln1264Pro)not specified [RCV004329782]uncertain significance162480427324804273Humanname
401857253CV2762515single nucleotide variantNM_014494.4(TNRC6A):c.3821A>G (p.Asn1274Ser)not specified [RCV004338050]likely benign162480430324804303Humanname
401883970CV2764755single nucleotide variantNM_014494.4(TNRC6A):c.4804G>A (p.Gly1602Ser)not specified [RCV004334864]uncertain significance162481527824815278Humanname
401879756CV2788501single nucleotide variantNM_014494.4(TNRC6A):c.5791C>A (p.Pro1931Thr)not specified [RCV004359483]uncertain significance162482370924823709Humanname
401911559CV2807752single nucleotide variantNM_014494.4(TNRC6A):c.4919A>G (p.Asn1640Ser)not provided [RCV003426640]benign162481690324816903Humanname
405795847CV3336525single nucleotide variantNM_014494.4(TNRC6A):c.3082A>G (p.Asn1028Asp)not specified [RCV004475578]uncertain significance162479172424791724Humanname
405795844CV3336526single nucleotide variantNM_014494.4(TNRC6A):c.3131C>T (p.Thr1044Met)not specified [RCV004475579]uncertain significance162479177324791773Humanname
405795837CV3336528single nucleotide variantNM_014494.4(TNRC6A):c.3182G>A (p.Gly1061Asp)not specified [RCV004475581]uncertain significance162479347924793479Humanname
405795834CV3336529single nucleotide variantNM_014494.4(TNRC6A):c.3364A>G (p.Met1122Val)not specified [RCV004475582]uncertain significance162479455524794555Humanname
405795831CV3336530single nucleotide variantNM_014494.4(TNRC6A):c.3708C>G (p.Asp1236Glu)not specified [RCV004475583]uncertain significance162480419024804190Humanname
405795828CV3336531single nucleotide variantNM_014494.4(TNRC6A):c.4471A>G (p.Met1491Val)not specified [RCV004475584]uncertain significance162480671524806715Humanname
405795825CV3336532single nucleotide variantNM_014494.4(TNRC6A):c.4549T>G (p.Ser1517Ala)not specified [RCV004475585]uncertain significance162480935824809358Humanname
405795822CV3336533single nucleotide variantNM_014494.4(TNRC6A):c.4787G>T (p.Arg1596Leu)not specified [RCV004475586]uncertain significance162481526124815261Humanname
405795818CV3336534single nucleotide variantNM_014494.4(TNRC6A):c.5063C>G (p.Thr1688Arg)not specified [RCV004475587]uncertain significance162481868324818683Humanname
405795809CV3336537single nucleotide variantNM_014494.4(TNRC6A):c.5779A>G (p.Ser1927Gly)Epilepsy, familial adult myoclonic, 6 [RCV005015147]|not specified [RCV004475590]uncertain significance162482369724823697Human1name
405795806CV3336538single nucleotide variantNM_014494.4(TNRC6A):c.5884A>G (p.Met1962Val)not specified [RCV004475591]uncertain significance162482380224823802Humanname
407531253CV3479429single nucleotide variantNM_014494.4(TNRC6A):c.5050C>T (p.Pro1684Ser)not specified [RCV004682314]uncertain significance162481867024818670Humanname
407459122CV3479431single nucleotide variantNM_014494.4(TNRC6A):c.3595G>A (p.Ala1199Thr)not specified [RCV004687029]uncertain significance162479752324797523Humanname
407531256CV3479432single nucleotide variantNM_014494.4(TNRC6A):c.5608C>T (p.Pro1870Ser)not specified [RCV004682315]uncertain significance162482352624823526Humanname
407531264CV3479436single nucleotide variantNM_014494.4(TNRC6A):c.3536G>A (p.Ser1179Asn)not specified [RCV004682319]uncertain significance162479591424795914Humanname
407531265CV3479437single nucleotide variantNM_014494.4(TNRC6A):c.3565A>G (p.Met1189Val)not specified [RCV004682320]uncertain significance162479749324797493Humanname
407531271CV3479440single nucleotide variantNM_014494.4(TNRC6A):c.3823C>T (p.Pro1275Ser)not specified [RCV004682323]uncertain significance162480430524804305Humanname
407531276CV3479442single nucleotide variantNM_014494.4(TNRC6A):c.5620T>C (p.Ser1874Pro)not specified [RCV004682325]uncertain significance162482353824823538Humanname
597676981CV3617251single nucleotide variantNM_014494.4(TNRC6A):c.3818G>A (p.Arg1273His)not specified [RCV004883137]uncertain significance162480430024804300Humanname
597677042CV3617258single nucleotide variantNM_014494.4(TNRC6A):c.4747C>T (p.Pro1583Ser)not specified [RCV004883143]uncertain significance162481522124815221Humanname
597677049CV3617259single nucleotide variantNM_014494.4(TNRC6A):c.3383G>A (p.Gly1128Asp)not specified [RCV004883144]uncertain significance162479457424794574Humanname
597677072CV3617261single nucleotide variantNM_014494.4(TNRC6A):c.4351C>G (p.Gln1451Glu)not specified [RCV004883146]uncertain significance162480659524806595Humanname
597677081CV3617262single nucleotide variantNM_014494.4(TNRC6A):c.4939C>G (p.Arg1647Gly)not specified [RCV004883147]uncertain significance162481692324816923Humanname
597677351CV3617265single nucleotide variantNM_014494.4(TNRC6A):c.3581A>G (p.Asn1194Ser)not specified [RCV004883150]uncertain significance162479750924797509Humanname
597677375CV3617267single nucleotide variantNM_014494.4(TNRC6A):c.4715T>C (p.Val1572Ala)not specified [RCV004883152]uncertain significance162481518924815189Humanname
597677385CV3617269single nucleotide variantNM_014494.4(TNRC6A):c.4480A>G (p.Thr1494Ala)not specified [RCV004883153]uncertain significance162480672424806724Humanname
597677396CV3617270single nucleotide variantNM_014494.4(TNRC6A):c.3844A>G (p.Ile1282Val)not specified [RCV004883154]uncertain significance162480471124804711Humanname
597677408CV3617271single nucleotide variantNM_014494.4(TNRC6A):c.4478A>G (p.His1493Arg)not specified [RCV004883155]uncertain significance162480672224806722Humanname
597677419CV3617272single nucleotide variantNM_014494.4(TNRC6A):c.5444C>A (p.Pro1815His)not specified [RCV004883156]uncertain significance162482294424822944Humanname
597677439CV3617274single nucleotide variantNM_014494.4(TNRC6A):c.4451A>G (p.Lys1484Arg)not specified [RCV004883158]uncertain significance162480669524806695Humanname
597677459CV3617276single nucleotide variantNM_014494.4(TNRC6A):c.4326G>T (p.Gln1442His)not specified [RCV004883160]uncertain significance162480628024806280Humanname
597677469CV3617277single nucleotide variantNM_014494.4(TNRC6A):c.5765C>T (p.Pro1922Leu)not specified [RCV004883161]uncertain significance162482368324823683Humanname
597677478CV3617278single nucleotide variantNM_014494.4(TNRC6A):c.3878T>C (p.Met1293Thr)not specified [RCV004883162]uncertain significance162480474524804745Humanname
597677489CV3617280single nucleotide variantNM_014494.4(TNRC6A):c.4703A>G (p.Glu1568Gly)not specified [RCV004883163]uncertain significance162481517724815177Humanname
597677498CV3617281single nucleotide variantNM_014494.4(TNRC6A):c.4534C>T (p.Pro1512Ser)not specified [RCV004883164]uncertain significance162480677824806778Humanname
598186711CV3931587single nucleotide variantNM_014494.4(TNRC6A):c.4537A>G (p.Ile1513Val)not specified [RCV005287630]uncertain significance162480678124806781Humanname
598186717CV3931589single nucleotide variantNM_014494.4(TNRC6A):c.5753T>C (p.Leu1918Pro)not specified [RCV005287631]uncertain significance162482367124823671Humanname
598253895CV3931592single nucleotide variantNM_014494.4(TNRC6A):c.5881T>A (p.Ser1961Thr)not specified [RCV005278329]uncertain significance162482379924823799Humanname
598186737CV3931593single nucleotide variantNM_014494.4(TNRC6A):c.5464C>T (p.Arg1822Cys)not specified [RCV005287634]uncertain significance162482296424822964Humanname
598253901CV3931594single nucleotide variantNM_014494.4(TNRC6A):c.4927A>G (p.Ile1643Val)not specified [RCV005278330]uncertain significance162481691124816911Humanname
598253907CV3931596single nucleotide variantNM_014494.4(TNRC6A):c.4466A>G (p.Asn1489Ser)not specified [RCV005278331]uncertain significance162480671024806710Humanname
598186751CV3931597single nucleotide variantNM_014494.4(TNRC6A):c.4535C>T (p.Pro1512Leu)not specified [RCV005287636]uncertain significance162480677924806779Humanname
598186757CV3931598single nucleotide variantNM_014494.4(TNRC6A):c.3932C>A (p.Ala1311Asp)not specified [RCV005287637]uncertain significance162480479924804799Humanname
598186763CV3931599single nucleotide variantNM_014494.4(TNRC6A):c.5081C>A (p.Ala1694Asp)not specified [RCV005287638]uncertain significance162482013924820139Humanname
598186769CV3931600single nucleotide variantNM_014494.4(TNRC6A):c.4946T>C (p.Val1649Ala)not specified [RCV005287639]uncertain significance162481693024816930Humanname
598186785CV3931604single nucleotide variantNM_014494.4(TNRC6A):c.3929A>C (p.Gln1310Pro)not specified [RCV005287642]uncertain significance162480479624804796Humanname
598253919CV3931608single nucleotide variantNM_014494.4(TNRC6A):c.3191G>T (p.Trp1064Leu)not specified [RCV005278333]uncertain significance162479348824793488Humanname
598186810CV3931609single nucleotide variantNM_014494.4(TNRC6A):c.4837C>T (p.Arg1613Cys)not specified [RCV005287646]uncertain significance162481682124816821Humanname
15137190CV740046single nucleotide variantNM_014494.4(TNRC6A):c.5711G>A (p.Gly1904Glu)not provided [RCV000898758]likely benign162482362924823629Humanname
8635735CV90958single nucleotide variantNM_014494.2(TNRC6A):c.4637T>G (p.Val1546Gly)Malignant melanoma [RCV000071056]not provided162480944624809446Humanname
401911557CV2807751microsatelliteNM_014494.4(TNRC6A):c.2941GAA[2] (p.Glu983del)not provided [RCV003426639]likely benign162479158124791583Humanname
15167061CV703571deletionNM_014494.4(TNRC6A):c.339_350del (p.113_114PQ[1])Epilepsy, familial adult myoclonic, 6 [RCV001838648]|not provided [RCV000948974]benign162477710224777113Human1name
596945206CV3547730microsatelliteNM_014494.4(TNRC6A):c.358CAGCAGCCACAG[1] (p.120QQPQ[1])not provided [RCV004809061]likely benign162477712424777135Humanname