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Pathways
Variants search result for Homo sapiens
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81 records found for search term Btn2a2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405272839CV3190662single nucleotide variantNM_006995.5(BTN2A2):c.932-3C>TBTN2A2-related disorder [RCV003907099]likely benign62639068426390684Humanname , trait , alternate_id
405272810CV3195744single nucleotide variantNM_006995.5(BTN2A2):c.443-8C>GBTN2A2-related disorder [RCV003906975]likely benign62638800526388005Humanname , trait , alternate_id
405280006CV3197025single nucleotide variantNM_006995.5(BTN2A2):c.980-88G>CBTN2A2-related disorder [RCV003979866]benign62639228726392287Humanname , trait , alternate_id
405279344CV3200046single nucleotide variantNM_006995.5(BTN2A2):c.57G>A (p.Leu19=)BTN2A2-related disorder [RCV003974045]benign62638387826383878Human1name , trait , alternate_id
405279344CV3200046single nucleotide variantNM_006995.5(BTN2A2):c.57G>A (p.Leu19=)BTN2A2-related disorder [RCV003974045]benign62638387826383879Human1name , trait , alternate_id
329350129CV2466257single nucleotide variantNM_006995.5(BTN2A2):c.13G>A (p.Ala5Thr)not specified [RCV004279882]uncertain significance62638383426383834Humanname
15174590CV710367single nucleotide variantNM_006995.5(BTN2A2):c.11C>T (p.Ala4Val)not provided [RCV000972749]benign62638383226383832Humanname
156069554CV2203800single nucleotide variantNM_006995.5(BTN2A2):c.47T>C (p.Leu16Pro)not specified [RCV004074440]uncertain significance62638386826383868Humanname
401745394CV2711819single nucleotide variantNM_006995.5(BTN2A2):c.43C>T (p.Leu15Phe)not specified [RCV004309458]uncertain significance62638386426383864Humanname
405280121CV3192969single nucleotide variantNM_006995.5(BTN2A2):c.411C>T (p.Tyr137=)BTN2A2-related disorder [RCV003981655]likely benign62638533126385331Humanname , trait , alternate_id
405276358CV3209851single nucleotide variantNM_006995.5(BTN2A2):c.354C>T (p.Asn118=)BTN2A2-related disorder [RCV003944499]likely benign62638527426385274Humanname , trait , alternate_id
405277737CV3216237single nucleotide variantNM_006995.5(BTN2A2):c.780C>T (p.Thr260=)BTN2A2-related disorder [RCV003956755]likely benign62639006026390060Humanname , trait , alternate_id
405278684CV3220788single nucleotide variantNM_006995.5(BTN2A2):c.627A>G (p.Thr209=)BTN2A2-related disorder [RCV003968969]likely benign62638819726388197Humanname , trait , alternate_id
597785007CV3647163single nucleotide variantNM_006995.5(BTN2A2):c.79T>C (p.Cys27Arg)not specified [RCV004900628]uncertain significance62638390026383900Humanname
598186804CV3949840single nucleotide variantNM_006995.5(BTN2A2):c.89T>G (p.Val30Gly)not specified [RCV005311916]uncertain significance62638391026383910Humanname
155993418CV2286298single nucleotide variantNM_006995.5(BTN2A2):c.143G>T (p.Gly48Val)not specified [RCV004146250]uncertain significance62638506326385063Humanname
156298276CV2310602single nucleotide variantNM_006995.5(BTN2A2):c.206G>A (p.Arg69Gln)not specified [RCV004157269]uncertain significance62638512626385126Humanname
156281917CV2321964single nucleotide variantNM_006995.5(BTN2A2):c.232G>A (p.Ala78Thr)not specified [RCV004173420]uncertain significance62638515226385152Humanname
405279440CV3193528single nucleotide variantNM_006995.5(BTN2A2):c.1398G>A (p.Ser466=)BTN2A2-related disorder [RCV003974696]benign62639279326392793Human4name , trait , alternate_id
405274809CV3210398single nucleotide variantNM_006995.5(BTN2A2):c.1095C>T (p.Phe365=)BTN2A2-related disorder [RCV003931370]likely benign62639249026392490Humanname , trait , alternate_id
405711154CV3298662single nucleotide variantNM_006995.5(BTN2A2):c.112G>T (p.Gly38Trp)not specified [RCV004426832]uncertain significance62638503226385032Humanname
405711172CV3298665single nucleotide variantNM_006995.5(BTN2A2):c.115C>A (p.Pro39Thr)not specified [RCV004426835]uncertain significance62638503526385035Humanname
405711185CV3298667single nucleotide variantNM_006995.5(BTN2A2):c.178G>A (p.Glu60Lys)not specified [RCV004426837]uncertain significance62638509826385098Humanname
405711192CV3298668single nucleotide variantNM_006995.5(BTN2A2):c.185A>C (p.Asn62Thr)not specified [RCV004426838]uncertain significance62638510526385105Humanname
597749803CV3647164single nucleotide variantNM_006995.5(BTN2A2):c.230C>G (p.Pro77Arg)not specified [RCV004892431]uncertain significance62638515026385150Humanname
598186792CV3949838single nucleotide variantNM_006995.5(BTN2A2):c.196A>G (p.Met66Val)not specified [RCV005311914]uncertain significance62638511626385116Humanname
15174595CV710368single nucleotide variantNM_006995.5(BTN2A2):c.115C>G (p.Pro39Ala)not provided [RCV000972750]benign62638503526385035Humanname
155920943CV2240446single nucleotide variantNM_006995.5(BTN2A2):c.397G>A (p.Glu133Lys)not specified [RCV004117332]uncertain significance62638531726385317Humanname
156360828CV2329677single nucleotide variantNM_006995.5(BTN2A2):c.382C>T (p.Arg128Cys)not specified [RCV004180789]uncertain significance62638530226385302Humanname
156138697CV2374245single nucleotide variantNM_006995.5(BTN2A2):c.980C>T (p.Ala327Val)not specified [RCV004603392]uncertain significance62639237526392375Humanname
155993452CV2379416single nucleotide variantNM_006995.5(BTN2A2):c.311G>T (p.Ser104Ile)not specified [RCV004223867]uncertain significance62638523126385231Humanname
156042899CV2381498single nucleotide variantNM_006995.5(BTN2A2):c.691G>A (p.Gly231Ser)not specified [RCV004229976]uncertain significance62638826126388261Humanname
329349549CV2446025single nucleotide variantNM_006995.5(BTN2A2):c.430C>A (p.Leu144Ile)not specified [RCV004270602]uncertain significance62638535026385350Humanname
401746269CV2712155single nucleotide variantNM_006995.5(BTN2A2):c.427C>T (p.Arg143Cys)not specified [RCV004311878]uncertain significance62638534726385347Humanname
401857162CV2778479single nucleotide variantNM_006995.5(BTN2A2):c.825C>A (p.Phe275Leu)not specified [RCV004344142]likely benign62639010526390105Humanname
405279336CV3199985single nucleotide variantNM_006995.5(BTN2A2):c.607G>A (p.Gly203Ser)BTN2A2-related disorder [RCV003973997]benign62638817726388177Humanname , trait , alternate_id
405277944CV3205588single nucleotide variantNM_006995.5(BTN2A2):c.574G>T (p.Ala192Ser)BTN2A2-related disorder [RCV003959729]likely benign62638814426388144Humanname , trait , alternate_id
405711200CV3298669single nucleotide variantNM_006995.5(BTN2A2):c.359C>T (p.Thr120Ile)not specified [RCV004426839]uncertain significance62638527926385279Humanname
405711218CV3298671single nucleotide variantNM_006995.5(BTN2A2):c.559G>A (p.Gly187Ser)not specified [RCV004426841]likely benign62638812926388129Humanname
405711223CV3298672single nucleotide variantNM_006995.5(BTN2A2):c.665C>A (p.Ser222Tyr)not specified [RCV004426842]uncertain significance62638823526388235Humanname
405711228CV3298673single nucleotide variantNM_006995.5(BTN2A2):c.760G>A (p.Ala254Thr)not specified [RCV004426843]uncertain significance62639004026390040Humanname
405711236CV3298674single nucleotide variantNM_006995.5(BTN2A2):c.845G>A (p.Ser282Asn)not specified [RCV004426844]uncertain significance62639012526390125Humanname
407489140CV3417779single nucleotide variantNM_006995.5(BTN2A2):c.733A>T (p.Met245Leu)not specified [RCV004604126]uncertain significance62639001326390013Humanname
597784991CV3647158single nucleotide variantNM_006995.5(BTN2A2):c.410A>T (p.Tyr137Phe)not specified [RCV004900624]uncertain significance62638533026385330Humanname
597785000CV3647161single nucleotide variantNM_006995.5(BTN2A2):c.913G>A (p.Glu305Lys)not specified [RCV004900626]uncertain significance62639019326390193Humanname
597749808CV3647165single nucleotide variantNM_006995.5(BTN2A2):c.749C>T (p.Pro250Leu)not specified [RCV004892432]uncertain significance62639002926390029Humanname
598211301CV3949833single nucleotide variantNM_006995.5(BTN2A2):c.657G>C (p.Arg219Ser)not specified [RCV005315990]uncertain significance62638822726388227Humanname
598211309CV3949836single nucleotide variantNM_006995.5(BTN2A2):c.583G>A (p.Glu195Lys)not specified [RCV005315991]uncertain significance62638815326388153Humanname
598186798CV3949839single nucleotide variantNM_006995.5(BTN2A2):c.683C>T (p.Thr228Ile)not specified [RCV005311915]uncertain significance62638825326388253Humanname
598186811CV3949842single nucleotide variantNM_006995.5(BTN2A2):c.832T>G (p.Phe278Val)not specified [RCV005311917]uncertain significance62639011226390112Humanname
15108418CV721921single nucleotide variantNM_006995.5(BTN2A2):c.799T>G (p.Ser267Ala)not provided [RCV000893667]benign62639007926390079Humanname
156141555CV2208427single nucleotide variantNM_006995.5(BTN2A2):c.1052G>A (p.Arg351Gln)not specified [RCV004090971]uncertain significance62639244726392447Humanname
155934369CV2225275single nucleotide variantNM_006995.5(BTN2A2):c.1288C>G (p.Leu430Val)not specified [RCV004098920]uncertain significance62639268326392683Humanname
156274799CV2279847single nucleotide variantNM_006995.5(BTN2A2):c.1144C>G (p.His382Asp)not specified [RCV004144446]uncertain significance62639253926392539Humanname
155955580CV2303923single nucleotide variantNM_006995.5(BTN2A2):c.1382A>T (p.Asn461Ile)not specified [RCV004168201]uncertain significance62639277726392777Humanname
156297886CV2310565single nucleotide variantNM_006995.5(BTN2A2):c.1152G>C (p.Trp384Cys)not specified [RCV004163582]uncertain significance62639254726392547Humanname
156289730CV2333212single nucleotide variantNM_006995.5(BTN2A2):c.1015G>A (p.Glu339Lys)not specified [RCV004599584]uncertain significance62639241026392410Humanname
156129944CV2364788single nucleotide variantNM_006995.5(BTN2A2):c.1178T>A (p.Val393Glu)BTN2A2-related disorder [RCV003936684]|not specified [RCV004219656]likely benign|uncertain significance62639257326392573Humanname , trait , alternate_id
156386825CV2364858single nucleotide variantNM_006995.5(BTN2A2):c.1176G>T (p.Met392Ile)BTN2A2-related disorder [RCV003928929]|not specified [RCV004219718]likely benign|uncertain significance62639257126392571Humanname , trait , alternate_id
156101881CV2367706single nucleotide variantNM_006995.5(BTN2A2):c.1361C>T (p.Ala454Val)not specified [RCV004211620]uncertain significance62639275626392756Humanname
329349501CV2430499single nucleotide variantNM_006995.5(BTN2A2):c.1525G>A (p.Glu509Lys)not specified [RCV004252085]uncertain significance62639292026392920Humanname
329350536CV2470081single nucleotide variantNM_006995.5(BTN2A2):c.1484T>C (p.Ile495Thr)not specified [RCV004287343]uncertain significance62639287926392879Humanname
401858508CV2780789single nucleotide variantNM_006995.5(BTN2A2):c.1334G>C (p.Arg445Pro)not specified [RCV004352111]uncertain significance62639272926392729Humanname
405276321CV3204279single nucleotide variantNM_006995.5(BTN2A2):c.1517T>C (p.Met506Thr)BTN2A2-related disorder [RCV003944121]likely benign62639291226392912Humanname , trait , alternate_id
405272869CV3213687single nucleotide variantNM_006995.5(BTN2A2):c.1379A>G (p.Tyr460Cys)BTN2A2-related disorder [RCV003907371]benign62639277426392774Humanname , trait , alternate_id
405274436CV3213949single nucleotide variantNM_006995.5(BTN2A2):c.1201C>G (p.His401Asp)BTN2A2-related disorder [RCV003926802]likely benign62639259626392596Humanname , trait , alternate_id
405279899CV3217004single nucleotide variantNM_006995.5(BTN2A2):c.1006G>A (p.Ala336Thr)BTN2A2-related disorder [RCV003979150]benign62639240126392401Humanname , trait , alternate_id
405711146CV3298661single nucleotide variantNM_006995.5(BTN2A2):c.1003A>G (p.Thr335Ala)not specified [RCV004426831]uncertain significance62639239826392398Humanname
405711159CV3298663single nucleotide variantNM_006995.5(BTN2A2):c.1132G>A (p.Ala378Thr)not specified [RCV004426833]uncertain significance62639252726392527Humanname
405711178CV3298666single nucleotide variantNM_006995.5(BTN2A2):c.1429A>T (p.Thr477Ser)not specified [RCV004426836]likely benign62639282426392824Humanname
597784987CV3647157single nucleotide variantNM_006995.5(BTN2A2):c.1011T>A (p.His337Gln)not specified [RCV004900623]uncertain significance62639240626392406Humanname
597749798CV3647159single nucleotide variantNM_006995.5(BTN2A2):c.1013C>A (p.Pro338His)not specified [RCV004892430]uncertain significance62639240826392408Humanname
597784995CV3647160single nucleotide variantNM_006995.5(BTN2A2):c.1418G>A (p.Arg473His)not specified [RCV004900625]uncertain significance62639281326392813Humanname
597785003CV3647162single nucleotide variantNM_006995.5(BTN2A2):c.1304G>A (p.Arg435Lys)not specified [RCV004900627]likely benign62639269926392699Humanname
598186779CV3949834single nucleotide variantNM_006995.5(BTN2A2):c.1017G>T (p.Glu339Asp)not specified [RCV005311912]uncertain significance62639241226392412Humanname
598186786CV3949835single nucleotide variantNM_006995.5(BTN2A2):c.1061A>G (p.Tyr354Cys)not specified [RCV005311913]uncertain significance62639245626392456Humanname
598211316CV3949837single nucleotide variantNM_006995.5(BTN2A2):c.1159G>A (p.Glu387Lys)not specified [RCV005315992]uncertain significance62639255426392554Humanname
15099924CV699488single nucleotide variantNM_006995.5(BTN2A2):c.1435C>T (p.Pro479Ser)BTN2A2-related disorder [RCV003926089]|not provided [RCV000958835]benign62639283026392830Humanname , trait , alternate_id
15127229CV710369single nucleotide variantNM_006995.5(BTN2A2):c.1282C>T (p.Arg428Trp)BTN2A2-related disorder [RCV003905863]|not provided [RCV000963865]benign62639267726392677Humanname , trait , alternate_id
15174600CV710370single nucleotide variantNM_006995.5(BTN2A2):c.1538A>C (p.Lys513Thr)not provided [RCV000972751]benign62639293326392933Humanname
8631936CV87142single nucleotide variantNM_001197237.1(BTN2A2):c.184A>T (p.Asn62Tyr)Malignant melanoma [RCV000067233]not provided62638510426385104Humanname