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128 records found for search term Nlrp6
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8648821CV108982single nucleotide variantNM_001276700.2(NLRP6):c.30-20C>Gnot provided [RCV000089507]not provided11279307279307Humanname
8648824CV108985single nucleotide variantNM_001276700.2(NLRP6):c.30-85G>Anot provided [RCV000089510]not provided11279242279242Humanname
8648819CV108980single nucleotide variantNM_001276700.2(NLRP6):c.29+222A>Gnot provided [RCV000089505]not provided11278820278820Humanname
8648820CV108981single nucleotide variantNM_001276700.2(NLRP6):c.29+250G>Anot provided [RCV000089506]not provided11278848278848Humanname
8648822CV108983single nucleotide variantNM_001276700.2(NLRP6):c.30-271C>Gnot provided [RCV000089508]not provided11279056279056Humanname
8648823CV108984single nucleotide variantNM_001276700.2(NLRP6):c.30-335G>Anot provided [RCV000089509]not provided11278992278992Humanname
8648825CV108986single nucleotide variantNM_001276700.2(NLRP6):c.311-15C>Anot provided [RCV000089511]not provided11279819279819Humanname
8648826CV108987single nucleotide variantNM_001276700.2(NLRP6):c.311-26G>Tnot provided [RCV000089512]not provided11279808279808Humanname
8648827CV108988single nucleotide variantNM_001276700.2(NLRP6):c.311-42G>Cnot provided [RCV000089513]not provided11279792279792Humanname
8648813CV108974single nucleotide variantNM_001276700.2(NLRP6):c.2198+35C>Tnot provided [RCV000089499]not provided11282832282832Humanname
8648814CV108975single nucleotide variantNM_001276700.2(NLRP6):c.2370-37G>Anot provided [RCV000089500]not provided11284438284438Humanname
8648815CV108976single nucleotide variantNM_001276700.2(NLRP6):c.2538-36C>Anot provided [RCV000089501]not provided11285130285130Humanname
8648816CV108977single nucleotide variantNM_001276700.2(NLRP6):c.2538-87G>Anot provided [RCV000089502]not provided11285079285079Humanname
8648828CV108989single nucleotide variantNM_001276700.2(NLRP6):c.349+103G>Anot provided [RCV000089514]not provided11279975279975Humanname
8648810CV108971single nucleotide variantNM_001276700.2(NLRP6):c.2105+139C>Tnot provided [RCV000089496]not provided11281978281978Humanname
8648811CV108972single nucleotide variantNM_001276700.2(NLRP6):c.2105+180A>Cnot provided [RCV000089497]not provided11282019282019Humanname
8648812CV108973single nucleotide variantNM_001276700.2(NLRP6):c.2105+362T>Cnot provided [RCV000089498]not provided11282201282201Humanname
8648817CV108978single nucleotide variantNM_001276700.2(NLRP6):c.261G>A (p.Arg87=)not provided [RCV000089503]not provided11279558279558Humanname
401741285CV2680586single nucleotide variantNM_001276700.2(NLRP6):c.20C>T (p.Pro7Leu)not specified [RCV004291212]uncertain significance11278589278589Humanname
8648829CV108990single nucleotide variantNM_001276700.2(NLRP6):c.582G>A (p.Arg194=)not provided [RCV000089515]not provided11280316280316Humanname
8648830CV108991single nucleotide variantNM_001276700.2(NLRP6):c.786G>C (p.Ala262=)not provided [RCV000089516]not provided11280520280520Humanname
8648831CV108992single nucleotide variantNM_001276700.2(NLRP6):c.795G>A (p.Pro265=)not provided [RCV000089517]not provided11280529280529Humanname
8648833CV108994single nucleotide variantNM_001276700.2(NLRP6):c.966G>C (p.Leu322=)not provided [RCV000089519]not provided11280700280700Humanname
156124617CV2350116single nucleotide variantNM_001276700.2(NLRP6):c.38C>G (p.Pro13Arg)not specified [RCV004200038]uncertain significance11279335279335Humanname
407509225CV3458815single nucleotide variantNM_001276700.2(NLRP6):c.55C>G (p.Arg19Gly)not specified [RCV004647364]uncertain significance11279352279352Humanname
598205744CV4004243single nucleotide variantNM_001276700.2(NLRP6):c.46G>A (p.Ala16Thr)not specified [RCV005376797]uncertain significance11279343279343Humanname
8648804CV108965single nucleotide variantNM_001276700.2(NLRP6):c.1665G>A (p.Arg555=)not provided [RCV000089490]not provided11281399281399Humanname
8648805CV108966single nucleotide variantNM_001276700.2(NLRP6):c.184G>A (p.Val62Met)not provided [RCV000089491]not provided11279481279481Humanname
8648806CV108967single nucleotide variantNM_001276700.2(NLRP6):c.1878C>T (p.Tyr626=)not provided [RCV000089492]not provided11281612281612Humanname
155972009CV2271478single nucleotide variantNM_001276700.2(NLRP6):c.295G>A (p.Glu99Lys)not specified [RCV004128578]uncertain significance11279592279592Humanname
405724036CV3359060single nucleotide variantNM_001276700.2(NLRP6):c.137C>T (p.Pro46Leu)not specified [RCV004495564]likely benign11279434279434Humanname
407509237CV3458820single nucleotide variantNM_001276700.2(NLRP6):c.169G>A (p.Glu57Lys)not specified [RCV004647367]uncertain significance11279466279466Humanname
598239554CV4004248single nucleotide variantNM_001276700.2(NLRP6):c.2265C>T (p.Pro755=)not specified [RCV005382946]likely benign11284296284296Humanname
15168843CV701717single nucleotide variantNM_001276700.2(NLRP6):c.2346G>A (p.Pro782=)not provided [RCV000949342]benign11284377284377Humanname
8648832CV108993single nucleotide variantNM_001276700.2(NLRP6):c.851T>C (p.Leu284Pro)not provided [RCV000089518]not provided11280585280585Humanname
156036465CV2218350single nucleotide variantNM_001276700.2(NLRP6):c.979C>A (p.Arg327Ser)not specified [RCV004088862]uncertain significance11280713280713Humanname
156106347CV2307621single nucleotide variantNM_001276700.2(NLRP6):c.773C>T (p.Pro258Leu)not specified [RCV004168042]uncertain significance11280507280507Humanname
156282889CV2317426single nucleotide variantNM_001276700.2(NLRP6):c.800T>C (p.Met267Thr)not specified [RCV004172396]uncertain significance11280534280534Humanname
156329099CV2332354single nucleotide variantNM_001276700.2(NLRP6):c.680G>A (p.Gly227Asp)not specified [RCV004182516]uncertain significance11280414280414Humanname
156364534CV2338980single nucleotide variantNM_001276700.2(NLRP6):c.439T>C (p.Phe147Leu)not specified [RCV004187037]uncertain significance11280173280173Humanname
156193036CV2350468single nucleotide variantNM_001276700.2(NLRP6):c.919G>C (p.Val307Leu)not specified [RCV004204836]uncertain significance11280653280653Humanname
156343666CV2364144single nucleotide variantNM_001276700.2(NLRP6):c.541A>G (p.Thr181Ala)not specified [RCV004221519]uncertain significance11280275280275Humanname
156080904CV2384689single nucleotide variantNM_001276700.2(NLRP6):c.311G>T (p.Arg104Leu)not specified [RCV004232463]uncertain significance11279834279834Humanname
401726425CV2674136single nucleotide variantNM_001276700.2(NLRP6):c.811C>T (p.Pro271Ser)not specified [RCV004295540]likely benign11280545280545Humanname
405724105CV3359068single nucleotide variantNM_001276700.2(NLRP6):c.610G>A (p.Ala204Thr)not specified [RCV004495572]uncertain significance11280344280344Humanname
405724116CV3359069single nucleotide variantNM_001276700.2(NLRP6):c.706C>A (p.Pro236Thr)not specified [RCV004495573]uncertain significance11280440280440Humanname
405724124CV3359070single nucleotide variantNM_001276700.2(NLRP6):c.955A>G (p.Thr319Ala)not specified [RCV004495574]uncertain significance11280689280689Humanname
407509220CV3458814single nucleotide variantNM_001276700.2(NLRP6):c.556T>C (p.Phe186Leu)not specified [RCV004647363]uncertain significance11280290280290Humanname
407497780CV3458816single nucleotide variantNM_001276700.2(NLRP6):c.392C>T (p.Ala131Val)not specified [RCV004643834]uncertain significance11280126280126Humanname
407509263CV3458827single nucleotide variantNM_001276700.2(NLRP6):c.532G>C (p.Asp178His)not specified [RCV004647374]uncertain significance11280266280266Humanname
597653212CV3566149single nucleotide variantNM_001276700.2(NLRP6):c.880C>T (p.Pro294Ser)not specified [RCV004827103]uncertain significance11280614280614Humanname
597653227CV3566151single nucleotide variantNM_001276700.2(NLRP6):c.463G>A (p.Glu155Lys)not specified [RCV004827105]uncertain significance11280197280197Humanname
597653235CV3566153single nucleotide variantNM_001276700.2(NLRP6):c.550C>T (p.Arg184Cys)not specified [RCV004827106]uncertain significance11280284280284Humanname
597653254CV3566156single nucleotide variantNM_001276700.2(NLRP6):c.530C>T (p.Ser177Leu)not specified [RCV004827109]uncertain significance11280264280264Humanname
598239543CV4004245single nucleotide variantNM_001276700.2(NLRP6):c.856G>A (p.Ala286Thr)not specified [RCV005382944]uncertain significance11280590280590Humanname
598205762CV4004249single nucleotide variantNM_001276700.2(NLRP6):c.514G>C (p.Gly172Arg)not specified [RCV005376800]uncertain significance11280248280248Humanname
13706581CV539034single nucleotide variantNM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn)not provided [RCV000662018]uncertain significance11280403280403Humanname
8648803CV108964single nucleotide variantNM_001276700.2(NLRP6):c.1271C>A (p.Thr424Asn)not provided [RCV000089489]not provided11281005281005Humanname
8648807CV108968single nucleotide variantNM_001276700.2(NLRP6):c.1940A>G (p.Gln647Arg)not provided [RCV000089493]not provided11281674281674Humanname
8648809CV108970single nucleotide variantNM_001276700.2(NLRP6):c.2078G>A (p.Arg693Gln)not provided [RCV000089495]not provided11281812281812Humanname
8648818CV108979single nucleotide variantNM_001276700.2(NLRP6):c.2659C>G (p.Leu887Val)not provided [RCV000089504]not provided11285287285287Humanname
156225856CV2203084single nucleotide variantNM_001276700.2(NLRP6):c.2432C>T (p.Pro811Leu)not specified [RCV004069329]uncertain significance11284537284537Humanname
156141871CV2208463single nucleotide variantNM_001276700.2(NLRP6):c.2267C>T (p.Ala756Val)not specified [RCV004091000]uncertain significance11284298284298Humanname
156128596CV2220055single nucleotide variantNM_001276700.2(NLRP6):c.1487A>G (p.Gln496Arg)not specified [RCV004093932]uncertain significance11281221281221Humanname
156237652CV2224224single nucleotide variantNM_001276700.2(NLRP6):c.1618T>G (p.Leu540Val)not specified [RCV004096061]uncertain significance11281352281352Humanname
156200686CV2256094single nucleotide variantNM_001276700.2(NLRP6):c.2317C>T (p.Arg773Cys)not specified [RCV004116382]uncertain significance11284348284348Humanname
156258588CV2274044single nucleotide variantNM_001276700.2(NLRP6):c.1417T>G (p.Ser473Ala)not specified [RCV004134700]uncertain significance11281151281151Humanname
156090153CV2290873single nucleotide variantNM_001276700.2(NLRP6):c.2575G>A (p.Glu859Lys)not specified [RCV004151155]uncertain significance11285203285203Humanname
156069322CV2292739single nucleotide variantNM_001276700.2(NLRP6):c.2282G>A (p.Gly761Asp)not specified [RCV004154407]uncertain significance11284313284313Humanname
156013936CV2300493single nucleotide variantNM_001276700.2(NLRP6):c.1681C>A (p.Arg561Ser)not specified [RCV004153678]uncertain significance11281415281415Humanname
156349040CV2309226single nucleotide variantNM_001276700.2(NLRP6):c.2398C>T (p.Leu800Phe)not specified [RCV004165397]uncertain significance11284503284503Humanname
156289588CV2309729single nucleotide variantNM_001276700.2(NLRP6):c.1309C>G (p.Arg437Gly)not specified [RCV004160859]uncertain significance11281043281043Humanname
156281990CV2317353single nucleotide variantNM_001276700.2(NLRP6):c.2273C>T (p.Thr758Met)not specified [RCV004178835]uncertain significance11284304284304Humanname
156056299CV2320603single nucleotide variantNM_001276700.2(NLRP6):c.2578C>A (p.Leu860Ile)not specified [RCV004172222]uncertain significance11285206285206Humanname
156354585CV2324308single nucleotide variantNM_001276700.2(NLRP6):c.1022C>T (p.Pro341Leu)not specified [RCV004177032]uncertain significance11280756280756Humanname
156041898CV2342182single nucleotide variantNM_001276700.2(NLRP6):c.2266G>A (p.Ala756Thr)not specified [RCV004191769]uncertain significance11284297284297Humanname
156342977CV2344219single nucleotide variantNM_001276700.2(NLRP6):c.2521G>A (p.Gly841Ser)not specified [RCV004197857]likely benign11284626284626Humanname
156071026CV2353059single nucleotide variantNM_001276700.2(NLRP6):c.2501T>A (p.Val834Asp)not specified [RCV004203545]uncertain significance11284606284606Humanname
155902641CV2356498single nucleotide variantNM_001276700.2(NLRP6):c.2430C>A (p.Ser810Arg)not specified [RCV004199415]uncertain significance11284535284535Humanname
156159011CV2361421single nucleotide variantNM_001276700.2(NLRP6):c.1363G>A (p.Gly455Arg)not specified [RCV004221066]uncertain significance11281097281097Humanname
156337597CV2370458single nucleotide variantNM_001276700.2(NLRP6):c.2431C>T (p.Pro811Ser)not specified [RCV004215807]uncertain significance11284536284536Humanname
329386860CV2439449single nucleotide variantNM_001276700.2(NLRP6):c.2473G>A (p.Ala825Thr)not specified [RCV004249738]uncertain significance11284578284578Humanname
329360897CV2439865single nucleotide variantNM_001276700.2(NLRP6):c.2147A>G (p.His716Arg)not specified [RCV004257905]likely benign11282746282746Humanname
329363040CV2449691single nucleotide variantNM_001276700.2(NLRP6):c.1366C>T (p.Arg456Cys)not specified [RCV004268594]uncertain significance11281100281100Humanname
329360582CV2458857single nucleotide variantNM_001276700.2(NLRP6):c.1730G>A (p.Arg577Gln)not specified [RCV004270272]uncertain significance11281464281464Humanname
401729754CV2690498single nucleotide variantNM_001276700.2(NLRP6):c.2632G>C (p.Asp878His)not specified [RCV004304264]uncertain significance11285260285260Humanname
401744759CV2697067single nucleotide variantNM_001276700.2(NLRP6):c.2345C>T (p.Pro782Leu)not specified [RCV004293050]uncertain significance11284376284376Humanname
401760061CV2701860single nucleotide variantNM_001276700.2(NLRP6):c.2224G>A (p.Ala742Thr)not specified [RCV004307824]uncertain significance11284255284255Humanname
401779070CV2702119single nucleotide variantNM_001276700.2(NLRP6):c.2000C>T (p.Pro667Leu)not specified [RCV004314479]uncertain significance11281734281734Humanname
401717971CV2718058single nucleotide variantNM_001276700.2(NLRP6):c.1216C>T (p.Arg406Trp)not specified [RCV004315780]uncertain significance11280950280950Humanname
401783372CV2723502single nucleotide variantNM_001276700.2(NLRP6):c.2534T>C (p.Leu845Pro)not specified [RCV004323909]uncertain significance11284639284639Humanname
401865456CV2757424single nucleotide variantNM_001276700.2(NLRP6):c.2434G>A (p.Ala812Thr)not specified [RCV004340818]uncertain significance11284539284539Humanname
401890071CV2762143single nucleotide variantNM_001276700.2(NLRP6):c.1349G>T (p.Arg450Leu)not specified [RCV004341957]uncertain significance11281083281083Humanname
401890140CV2762289single nucleotide variantNM_001276700.2(NLRP6):c.1831G>A (p.Glu611Lys)not specified [RCV004335409]uncertain significance11281565281565Humanname
401866579CV2762688single nucleotide variantNM_001276700.2(NLRP6):c.2383G>A (p.Asp795Asn)not specified [RCV004340249]uncertain significance11284488284488Humanname
401887445CV2771942single nucleotide variantNM_001276700.2(NLRP6):c.1702T>G (p.Ser568Ala)not specified [RCV004344637]uncertain significance11281436281436Humanname
405267167CV3186780single nucleotide variantNM_001276700.2(NLRP6):c.1599C>A (p.Asp533Glu)not provided [RCV003886861]uncertain significance11281333281333Humanname
405268853CV3187148single nucleotide variantNM_001276700.2(NLRP6):c.2516G>A (p.Gly839Glu)not provided [RCV003887232]uncertain significance11284621284621Humanname
405724029CV3359059single nucleotide variantNM_001276700.2(NLRP6):c.1367G>A (p.Arg456His)not specified [RCV004495563]uncertain significance11281101281101Humanname
405724056CV3359062single nucleotide variantNM_001276700.2(NLRP6):c.1631C>T (p.Thr544Met)not specified [RCV004495566]uncertain significance11281365281365Humanname
405724064CV3359063single nucleotide variantNM_001276700.2(NLRP6):c.2212A>G (p.Lys738Glu)not specified [RCV004495567]uncertain significance11284243284243Humanname
405724069CV3359064single nucleotide variantNM_001276700.2(NLRP6):c.2224G>T (p.Ala742Ser)not specified [RCV004495568]likely benign11284255284255Humanname
405724078CV3359065single nucleotide variantNM_001276700.2(NLRP6):c.2267C>G (p.Ala756Gly)not specified [RCV004495569]uncertain significance11284298284298Humanname
405724086CV3359066single nucleotide variantNM_001276700.2(NLRP6):c.2393G>A (p.Arg798Gln)not specified [RCV004495570]likely benign11284498284498Humanname
405724094CV3359067single nucleotide variantNM_001276700.2(NLRP6):c.2663T>C (p.Ile888Thr)not specified [RCV004495571]uncertain significance11285291285291Humanname
407509229CV3458817single nucleotide variantNM_001276700.2(NLRP6):c.1081T>C (p.Tyr361His)not specified [RCV004647365]uncertain significance11280815280815Humanname
407509233CV3458818single nucleotide variantNM_001276700.2(NLRP6):c.1330A>G (p.Asn444Asp)not specified [RCV004647366]uncertain significance11281064281064Humanname
407497784CV3458819single nucleotide variantNM_001276700.2(NLRP6):c.2474C>T (p.Ala825Val)not specified [RCV004643835]uncertain significance11284579284579Humanname
407509244CV3458822single nucleotide variantNM_001276700.2(NLRP6):c.1660G>A (p.Glu554Lys)not specified [RCV004647369]uncertain significance11281394281394Humanname
407509249CV3458823single nucleotide variantNM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)not specified [RCV004647370]uncertain significance11280782280782Humanname
407509253CV3458824single nucleotide variantNM_001276700.2(NLRP6):c.2381C>T (p.Pro794Leu)not specified [RCV004647371]uncertain significance11284486284486Humanname
407509258CV3458825single nucleotide variantNM_001276700.2(NLRP6):c.2497G>A (p.Ala833Thr)not specified [RCV004647372]uncertain significance11284602284602Humanname
407509261CV3458826single nucleotide variantNM_001276700.2(NLRP6):c.2098G>A (p.Gly700Ser)not specified [RCV004647373]uncertain significance11281832281832Humanname
597653197CV3566147single nucleotide variantNM_001276700.2(NLRP6):c.1475A>G (p.Glu492Gly)not specified [RCV004827101]uncertain significance11281209281209Humanname
597653204CV3566148single nucleotide variantNM_001276700.2(NLRP6):c.2585C>A (p.Ala862Asp)not specified [RCV004827102]uncertain significance11285213285213Humanname
597653219CV3566150single nucleotide variantNM_001276700.2(NLRP6):c.1500G>C (p.Gln500His)not specified [RCV004827104]uncertain significance11281234281234Humanname
597653241CV3566154single nucleotide variantNM_001276700.2(NLRP6):c.1864C>G (p.Leu622Val)not specified [RCV004827107]uncertain significance11281598281598Humanname
597653249CV3566155single nucleotide variantNM_001276700.2(NLRP6):c.1021C>G (p.Pro341Ala)not specified [RCV004827108]uncertain significance11280755280755Humanname
597653263CV3566157single nucleotide variantNM_001276700.2(NLRP6):c.2645A>G (p.Gln882Arg)not specified [RCV004827110]uncertain significance11285273285273Humanname
598205738CV4004242single nucleotide variantNM_001276700.2(NLRP6):c.1680G>C (p.Glu560Asp)not specified [RCV005376796]uncertain significance11281414281414Humanname
598205750CV4004244single nucleotide variantNM_001276700.2(NLRP6):c.1699G>T (p.Val567Phe)not specified [RCV005376798]uncertain significance11281433281433Humanname
598239548CV4004246single nucleotide variantNM_001276700.2(NLRP6):c.1510G>A (p.Glu504Lys)not specified [RCV005382945]uncertain significance11281244281244Humanname
598205756CV4004247single nucleotide variantNM_001276700.2(NLRP6):c.2002G>C (p.Ala668Pro)not specified [RCV005376799]uncertain significance11281736281736Humanname
15146576CV712776single nucleotide variantNM_001276700.2(NLRP6):c.1555C>A (p.Pro519Thr)not provided [RCV000967185]benign11281289281289Humanname
15202415CV724378single nucleotide variantNM_001276700.2(NLRP6):c.1549G>A (p.Gly517Arg)not provided [RCV000891466]likely benign11281283281283Humanname
15202580CV724379single nucleotide variantNM_001276700.2(NLRP6):c.1958G>C (p.Arg653Pro)not provided [RCV000891514]benign|likely benign11281692281692Humanname
15110280CV724380single nucleotide variantNM_001276700.2(NLRP6):c.2225C>T (p.Ala742Val)not provided [RCV000894030]likely benign11284256284256Humanname
8648808CV108969microsatelliteNM_001276700.2(NLRP6):c.2051AGA[4] (p.Lys688del)not provided [RCV000089494]not provided11281785281787Humanname