Send us a Message



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


72 records found for search term Tbkbp1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15198302CV731153single nucleotide variantNM_001394755.1(TBKBP1):c.634+10C>Tnot provided [RCV000890317]benign174769878547698785Humanname
155924163CV2352016single nucleotide variantNM_001394755.1(TBKBP1):c.12G>A (p.Met4Ile)not specified [RCV004191115]uncertain significance174769612447696124Humanname
405791196CV3335396single nucleotide variantNM_001394755.1(TBKBP1):c.21C>G (p.Asp7Glu)not specified [RCV004474158]uncertain significance174769613347696133Humanname
401935797CV2811453single nucleotide variantNM_001394755.1(TBKBP1):c.567C>T (p.Pro189=)not provided [RCV003413259]likely benign174769870847698708Humanname
401914388CV2811454single nucleotide variantNM_001394755.1(TBKBP1):c.897C>T (p.Thr299=)not provided [RCV003428320]likely benign174770841847708418Humanname
15110789CV715513single nucleotide variantNM_001394755.1(TBKBP1):c.300G>A (p.Glu100=)not provided [RCV000960974]benign174769678547696785Humanname
156184295CV2222489single nucleotide variantNM_001394755.1(TBKBP1):c.109T>A (p.Cys37Ser)not specified [RCV004099335]uncertain significance174769622147696221Humanname
401760655CV2695116single nucleotide variantNM_001394755.1(TBKBP1):c.217G>C (p.Glu73Gln)not specified [RCV004303272]uncertain significance174769632947696329Humanname
401759682CV2701672single nucleotide variantNM_001394755.1(TBKBP1):c.242A>T (p.Asp81Val)not specified [RCV004314084]uncertain significance174769672747696727Humanname
597761997CV3619227single nucleotide variantNM_001394755.1(TBKBP1):c.211G>A (p.Val71Ile)not specified [RCV004869537]uncertain significance174769632347696323Humanname
597762020CV3619232single nucleotide variantNM_001394755.1(TBKBP1):c.215A>G (p.Tyr72Cys)not specified [RCV004869542]uncertain significance174769632747696327Humanname
597762039CV3619236single nucleotide variantNM_001394755.1(TBKBP1):c.166G>A (p.Gly56Arg)not specified [RCV004869546]uncertain significance174769627847696278Humanname
598163207CV3912978single nucleotide variantNM_001394755.1(TBKBP1):c.200G>A (p.Arg67His)not specified [RCV005283073]uncertain significance174769631247696312Humanname
598208551CV3912979single nucleotide variantNM_001394755.1(TBKBP1):c.202C>T (p.Arg68Cys)not specified [RCV005291508]uncertain significance174769631447696314Humanname
156176077CV2254704single nucleotide variantNM_001394755.1(TBKBP1):c.649T>C (p.Ser217Pro)not specified [RCV004115183]likely benign174769933447699334Humanname
155919459CV2279423single nucleotide variantNM_001394755.1(TBKBP1):c.971A>G (p.Gln324Arg)not specified [RCV004141964]uncertain significance174770849247708492Humanname
156192564CV2388761single nucleotide variantNM_001394755.1(TBKBP1):c.836G>A (p.Arg279Gln)not specified [RCV004239622]uncertain significance174769966147699661Humanname
156263848CV2388903single nucleotide variantNM_001394755.1(TBKBP1):c.722G>A (p.Arg241Gln)not specified [RCV004241908]uncertain significance174769940747699407Humanname
401760716CV2695136single nucleotide variantNM_001394755.1(TBKBP1):c.683G>A (p.Arg228Gln)not specified [RCV004303291]uncertain significance174769936847699368Humanname
401728795CV2729811single nucleotide variantNM_001394755.1(TBKBP1):c.830C>T (p.Ser277Leu)not specified [RCV004332823]uncertain significance174769965547699655Humanname
405791199CV3335397single nucleotide variantNM_001394755.1(TBKBP1):c.478C>T (p.Arg160Cys)not specified [RCV004474159]uncertain significance174769861947698619Humanname
405791202CV3335398single nucleotide variantNM_001394755.1(TBKBP1):c.509G>T (p.Arg170Leu)not specified [RCV004474160]uncertain significance174769865047698650Humanname
405791208CV3335400single nucleotide variantNM_001394755.1(TBKBP1):c.925C>G (p.Arg309Gly)not specified [RCV004474162]uncertain significance174770844647708446Humanname
405791211CV3335401single nucleotide variantNM_001394755.1(TBKBP1):c.975A>C (p.Glu325Asp)not specified [RCV004474163]uncertain significance174770849647708496Humanname
407530687CV3485687single nucleotide variantNM_001394755.1(TBKBP1):c.593T>C (p.Leu198Pro)not specified [RCV004682035]uncertain significance174769873447698734Humanname
597762001CV3619228single nucleotide variantNM_001394755.1(TBKBP1):c.415G>A (p.Val139Met)not specified [RCV004869538]uncertain significance174769715547697155Humanname
597762023CV3619233single nucleotide variantNM_001394755.1(TBKBP1):c.766C>T (p.Arg256Trp)not specified [RCV004869543]uncertain significance174769945147699451Humanname
598208566CV3912983single nucleotide variantNM_001394755.1(TBKBP1):c.745C>A (p.Gln249Lys)not specified [RCV005291511]uncertain significance174769943047699430Humanname
598208570CV3912984single nucleotide variantNM_001394755.1(TBKBP1):c.422A>T (p.Lys141Met)not specified [RCV005291512]uncertain significance174769716247697162Humanname
155998026CV2260931single nucleotide variantNM_001394755.1(TBKBP1):c.1465C>A (p.Pro489Thr)not specified [RCV004125818]uncertain significance174770919847709198Humanname
155990051CV2285200single nucleotide variantNM_001394755.1(TBKBP1):c.1831G>C (p.Glu611Gln)not specified [RCV004145407]uncertain significance174771060947710609Humanname
156096747CV2294401single nucleotide variantNM_001394755.1(TBKBP1):c.1234C>A (p.Gln412Lys)not specified [RCV004159911]uncertain significance174770896747708967Humanname
156276781CV2300050single nucleotide variantNM_001394755.1(TBKBP1):c.1585C>G (p.Pro529Ala)not specified [RCV004151255]uncertain significance174770931847709318Humanname
155978370CV2335028single nucleotide variantNM_001394755.1(TBKBP1):c.1403G>A (p.Gly468Asp)not specified [RCV004184569]uncertain significance174770913647709136Humanname
155978382CV2335029single nucleotide variantNM_001394755.1(TBKBP1):c.1562C>T (p.Ser521Leu)not specified [RCV004184570]uncertain significance174770929547709295Humanname
155906523CV2379051single nucleotide variantNM_001394755.1(TBKBP1):c.1733C>T (p.Thr578Met)not specified [RCV004233809]uncertain significance174771051147710511Humanname
155959394CV2390524single nucleotide variantNM_001394755.1(TBKBP1):c.1421C>A (p.Ala474Asp)not specified [RCV004239060]uncertain significance174770915447709154Humanname
156224693CV2395219single nucleotide variantNM_001394755.1(TBKBP1):c.1354G>C (p.Val452Leu)not specified [RCV004236885]uncertain significance174770908747709087Humanname
329400632CV2438589single nucleotide variantNM_001394755.1(TBKBP1):c.1751G>A (p.Arg584His)not specified [RCV004261764]uncertain significance174771052947710529Humanname
401746876CV2678944single nucleotide variantNM_001394755.1(TBKBP1):c.1426C>T (p.Pro476Ser)not specified [RCV004294960]uncertain significance174770915947709159Humanname
401730861CV2686755single nucleotide variantNM_001394755.1(TBKBP1):c.1517G>A (p.Arg506Gln)not specified [RCV004301944]uncertain significance174770925047709250Humanname
401748372CV2696613single nucleotide variantNM_001394755.1(TBKBP1):c.1213T>C (p.Ser405Pro)not specified [RCV004312635]likely benign174770894647708946Humanname
401748375CV2696614single nucleotide variantNM_001394755.1(TBKBP1):c.1259G>C (p.Ser420Thr)not specified [RCV004312636]uncertain significance174770899247708992Humanname
401722576CV2703419single nucleotide variantNM_001394755.1(TBKBP1):c.1319C>T (p.Ala440Val)not specified [RCV004317618]uncertain significance174770905247709052Humanname
401763519CV2703926single nucleotide variantNM_001394755.1(TBKBP1):c.1267G>A (p.Ala423Thr)not specified [RCV004308824]uncertain significance174770900047709000Humanname
401718741CV2704783single nucleotide variantNM_001394755.1(TBKBP1):c.1244C>T (p.Ser415Phe)not specified [RCV004307377]uncertain significance174770897747708977Humanname
401768200CV2735211single nucleotide variantNM_001394755.1(TBKBP1):c.1393C>A (p.Leu465Met)not specified [RCV004333893]uncertain significance174770912647709126Humanname
401768203CV2735212single nucleotide variantNM_001394755.1(TBKBP1):c.1409C>G (p.Ala470Gly)not specified [RCV004333894]likely benign174770914247709142Humanname
405791413CV3335389single nucleotide variantNM_001394755.1(TBKBP1):c.1112G>T (p.Arg371Leu)not specified [RCV004474151]uncertain significance174770884547708845Humanname
405791320CV3335390single nucleotide variantNM_001394755.1(TBKBP1):c.1178C>T (p.Ser393Leu)not specified [RCV004474152]uncertain significance174770891147708911Humanname
405791248CV3335391single nucleotide variantNM_001394755.1(TBKBP1):c.1183G>A (p.Val395Ile)not specified [RCV004474153]uncertain significance174770891647708916Humanname
405791186CV3335392single nucleotide variantNM_001394755.1(TBKBP1):c.1236G>C (p.Gln412His)not specified [RCV004474154]uncertain significance174770896947708969Humanname
405791187CV3335393single nucleotide variantNM_001394755.1(TBKBP1):c.1271C>T (p.Pro424Leu)not specified [RCV004474155]uncertain significance174770900447709004Humanname
405791190CV3335394single nucleotide variantNM_001394755.1(TBKBP1):c.1544G>A (p.Arg515His)not specified [RCV004474156]uncertain significance174770927747709277Humanname
405791193CV3335395single nucleotide variantNM_001394755.1(TBKBP1):c.1684C>T (p.His562Tyr)not specified [RCV004474157]uncertain significance174770941747709417Humanname
407512643CV3485683single nucleotide variantNM_001394755.1(TBKBP1):c.1238G>A (p.Arg413His)not specified [RCV004673503]uncertain significance174770897147708971Humanname
407512645CV3485684single nucleotide variantNM_001394755.1(TBKBP1):c.1400A>C (p.Glu467Ala)not specified [RCV004673504]uncertain significance174770913347709133Humanname
407512648CV3485685single nucleotide variantNM_001394755.1(TBKBP1):c.1237C>T (p.Arg413Cys)not specified [RCV004673505]uncertain significance174770897047708970Humanname
407512651CV3485686single nucleotide variantNM_001394755.1(TBKBP1):c.1690G>A (p.Glu564Lys)not specified [RCV004673506]uncertain significance174770942347709423Humanname
407530689CV3485688single nucleotide variantNM_001394755.1(TBKBP1):c.1204G>T (p.Val402Leu)not specified [RCV004682036]uncertain significance174770893747708937Humanname
407512654CV3485689single nucleotide variantNM_001394755.1(TBKBP1):c.1569G>C (p.Glu523Asp)not specified [RCV004673507]uncertain significance174770930247709302Humanname
407512657CV3485690single nucleotide variantNM_001394755.1(TBKBP1):c.1559C>T (p.Pro520Leu)not specified [RCV004673508]uncertain significance174770929247709292Humanname
407512660CV3485691single nucleotide variantNM_001394755.1(TBKBP1):c.1085C>T (p.Pro362Leu)not specified [RCV004673509]uncertain significance174770881847708818Humanname
597761987CV3619225single nucleotide variantNM_001394755.1(TBKBP1):c.1666G>A (p.Ala556Thr)not specified [RCV004869535]uncertain significance174770939947709399Humanname
597761992CV3619226single nucleotide variantNM_001394755.1(TBKBP1):c.1400A>G (p.Glu467Gly)not specified [RCV004869536]uncertain significance174770913347709133Humanname
597762006CV3619229single nucleotide variantNM_001394755.1(TBKBP1):c.1111C>T (p.Arg371Cys)not specified [RCV004869539]uncertain significance174770884447708844Humanname
597762015CV3619231single nucleotide variantNM_001394755.1(TBKBP1):c.1595C>A (p.Pro532Gln)not specified [RCV004869541]uncertain significance174770932847709328Humanname
597762028CV3619234single nucleotide variantNM_001394755.1(TBKBP1):c.1418G>T (p.Gly473Val)not specified [RCV004869544]uncertain significance174770915147709151Humanname
597762033CV3619235single nucleotide variantNM_001394755.1(TBKBP1):c.1739G>C (p.Gly580Ala)not specified [RCV004869545]uncertain significance174771051747710517Humanname
598208556CV3912980single nucleotide variantNM_001394755.1(TBKBP1):c.1441G>A (p.Ala481Thr)not specified [RCV005291509]uncertain significance174770917447709174Humanname
598163215CV3912981single nucleotide variantNM_001394755.1(TBKBP1):c.1099G>A (p.Val367Ile)not specified [RCV005283074]uncertain significance174770883247708832Humanname
598208560CV3912982single nucleotide variantNM_001394755.1(TBKBP1):c.1717A>G (p.Asn573Asp)not specified [RCV005291510]uncertain significance174770945047709450Humanname