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Variants search result for Homo sapiens
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83 records found for search term Fam149b1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597707542CV3719752deletionNM_173348.2(FAM149B1):c.898+1delJoubert syndrome 36 [RCV005048333]likely pathogenic107321043873210438Human1name
405854512CV3393100single nucleotide variantNM_173348.2(FAM149B1):c.1128-2A>Gnot specified [RCV004527257]uncertain significance107323293773232937Humanname
405867814CV3396636single nucleotide variantNM_173348.2(FAM149B1):c.1127+1G>AJoubert syndrome 36 [RCV004560508]pathogenic107323052673230526Human1name
329952854CV2670199single nucleotide variantNM_173348.2(FAM149B1):c.1023+35G>Tnot provided [RCV003233409]uncertain significance107322821973228219Humanname
405677586CV3308087single nucleotide variantNM_173348.2(FAM149B1):c.2T>G (p.Met1Arg)Joubert syndrome 36 [RCV004442736]|not specified [RCV004701908]uncertain significance107316834173168341Human1name
401912762CV2829983single nucleotide variantNM_173348.2(FAM149B1):c.234C>T (p.Gly78=)not provided [RCV003441197]uncertain significance107317792773177927Humanname
156195041CV2223396single nucleotide variantNM_173348.2(FAM149B1):c.55A>T (p.Ile19Leu)not specified [RCV004105984]uncertain significance107317469473174694Humanname
401938401CV2809369single nucleotide variantNM_173348.2(FAM149B1):c.300C>T (p.Ala100=)not provided [RCV003417497]likely benign107319257373192573Humanname
401938402CV2809370single nucleotide variantNM_173348.2(FAM149B1):c.585T>C (p.Tyr195=)not provided [RCV003417498]likely benign107320866173208661Humanname
401938403CV2809371single nucleotide variantNM_173348.2(FAM149B1):c.621C>T (p.Ser207=)not provided [RCV003417499]likely benign107320869773208697Humanname
401943174CV2839921single nucleotide variantNM_173348.2(FAM149B1):c.660C>A (p.Ile220=)not provided [RCV003456708]likely benign107320873673208736Humanname
155641356CV1709675single nucleotide variantNM_173348.2(FAM149B1):c.1551G>A (p.Arg517=)not provided [RCV002292775]likely benign107323526773235267Humanname
156346157CV2377933single nucleotide variantNM_173348.2(FAM149B1):c.187T>G (p.Ser63Ala)FAM149B1-related disorder [RCV003396878]|not specified [RCV004230499]uncertain significance107317788073177880Human1name , trait , alternate_id
329378292CV2446924single nucleotide variantNM_173348.2(FAM149B1):c.179C>G (p.Ser60Cys)not specified [RCV004257770]uncertain significance107317787273177872Humanname
401740963CV2679844single nucleotide variantNM_173348.2(FAM149B1):c.178T>C (p.Ser60Pro)not specified [RCV004282299]likely benign107317787173177871Humanname
401797267CV2742099single nucleotide variantNM_173348.2(FAM149B1):c.1023G>C (p.Pro341=)not specified [RCV003324277]uncertain significance107322818473228184Humanname
401889716CV2758401single nucleotide variantNM_173348.2(FAM149B1):c.173A>C (p.Glu58Ala)not specified [RCV004335061]uncertain significance107317786673177866Humanname
401938405CV2809373single nucleotide variantNM_173348.2(FAM149B1):c.1482C>T (p.Pro494=)not provided [RCV003417501]likely benign107323519873235198Humanname
401943170CV2839922single nucleotide variantNM_173348.2(FAM149B1):c.1485T>C (p.His495=)not provided [RCV003456709]likely benign107323520173235201Humanname
405260549CV3185804single nucleotide variantNM_173348.2(FAM149B1):c.1626A>G (p.Ser542=)not provided [RCV003884880]likely benign107323933573239335Humanname
405271096CV3209297single nucleotide variantNM_173348.2(FAM149B1):c.1389G>A (p.Pro463=)FAM149B1-related disorder [RCV003949649]likely benign107323485373234853Humanname , trait , alternate_id
405727152CV3259876single nucleotide variantNM_173348.2(FAM149B1):c.166A>G (p.Thr56Ala)not specified [RCV004378757]uncertain significance107317785973177859Humanname
156334939CV2263575single nucleotide variantNM_173348.2(FAM149B1):c.413T>G (p.Phe138Cys)not specified [RCV004133798]uncertain significance107319268673192686Humanname
156297462CV2310526single nucleotide variantNM_173348.2(FAM149B1):c.515C>A (p.Thr172Asn)not specified [RCV004163548]uncertain significance107319356673193566Humanname
156182118CV2353130single nucleotide variantNM_173348.2(FAM149B1):c.931G>A (p.Asp311Asn)not specified [RCV004203609]likely benign107322809273228092Humanname
401749072CV2694561single nucleotide variantNM_173348.2(FAM149B1):c.518T>C (p.Leu173Ser)not specified [RCV004298686]uncertain significance107319356973193569Humanname
401872248CV2793049single nucleotide variantNM_173348.2(FAM149B1):c.515C>T (p.Thr172Ile)not specified [RCV004360379]uncertain significance107319356673193566Humanname
405727160CV3259877single nucleotide variantNM_173348.2(FAM149B1):c.410G>A (p.Ser137Asn)not specified [RCV004378758]uncertain significance107319268373192683Humanname
405727168CV3259878single nucleotide variantNM_173348.2(FAM149B1):c.499G>A (p.Ala167Thr)not specified [RCV004378759]uncertain significance107319355073193550Humanname
405727174CV3259879single nucleotide variantNM_173348.2(FAM149B1):c.713A>T (p.Glu238Val)not specified [RCV004378760]uncertain significance107321025373210253Humanname
405727185CV3259880single nucleotide variantNM_173348.2(FAM149B1):c.789T>G (p.Phe263Leu)not specified [RCV004378761]uncertain significance107321032973210329Humanname
405727201CV3259882single nucleotide variantNM_173348.2(FAM149B1):c.848T>C (p.Val283Ala)not specified [RCV004378763]uncertain significance107321038873210388Humanname
405727211CV3259883single nucleotide variantNM_173348.2(FAM149B1):c.917C>A (p.Ala306Glu)not specified [RCV004378764]uncertain significance107322807873228078Humanname
407508099CV3435498single nucleotide variantNM_173348.2(FAM149B1):c.349G>A (p.Glu117Lys)not specified [RCV004625303]uncertain significance107319262273192622Humanname
407508106CV3435500single nucleotide variantNM_173348.2(FAM149B1):c.602C>G (p.Ser201Cys)not specified [RCV004625305]uncertain significance107320867873208678Humanname
597737618CV3668585single nucleotide variantNM_173348.2(FAM149B1):c.448A>C (p.Thr150Pro)not specified [RCV004920869]uncertain significance107319349973193499Humanname
598224979CV3965909single nucleotide variantNM_173348.2(FAM149B1):c.906G>C (p.Glu302Asp)not specified [RCV005341372]uncertain significance107322806773228067Humanname
21404269CV799079single nucleotide variantNM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)Joubert syndrome 36 [RCV000999700]pathogenic107319349073193490Human1name
155940068CV2221939single nucleotide variantNM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser)not specified [RCV004102947]uncertain significance107323530573235305Humanname
155917873CV2275093single nucleotide variantNM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu)not specified [RCV004136902]likely benign107323302373233023Humanname
155970932CV2309240single nucleotide variantNM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr)not specified [RCV004165410]uncertain significance107323315673233156Humanname
156249527CV2314165single nucleotide variantNM_173348.2(FAM149B1):c.1093C>G (p.Gln365Glu)not specified [RCV004166248]uncertain significance107323049173230491Humanname
156302973CV2329344single nucleotide variantNM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu)not specified [RCV004187363]uncertain significance107323935273239352Humanname
155901194CV2345755single nucleotide variantNM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln)not specified [RCV004205689]uncertain significance107323316073233160Humanname
155923216CV2347462single nucleotide variantNM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys)not specified [RCV004200413]uncertain significance107323932773239327Humanname
156285240CV2349082single nucleotide variantNM_173348.2(FAM149B1):c.1516G>A (p.Val506Met)not specified [RCV004205519]uncertain significance107323523273235232Humanname
156255359CV2358998single nucleotide variantNM_173348.2(FAM149B1):c.1237G>A (p.Val413Met)not specified [RCV004212325]uncertain significance107323304873233048Humanname
156305416CV2369472single nucleotide variantNM_173348.2(FAM149B1):c.1022C>T (p.Pro341Leu)not specified [RCV004210409]uncertain significance107322818373228183Humanname
155929552CV2369776single nucleotide variantNM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro)not specified [RCV004215163]uncertain significance107323315673233156Humanname
155938344CV2380703single nucleotide variantNM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys)not specified [RCV004218283]uncertain significance107323306673233066Humanname
329367754CV2427541single nucleotide variantNM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys)not specified [RCV004250179]uncertain significance107323485573234855Humanname
329390815CV2455500single nucleotide variantNM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys)not specified [RCV004276766]uncertain significance107323935773239357Humanname
329398169CV2466633single nucleotide variantNM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln)not specified [RCV004274155]uncertain significance107323299573232995Humanname
329952855CV2670200single nucleotide variantNM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)Joubert syndrome 36 [RCV003233410]likely pathogenic107323299473232994Human1name
401734500CV2688544single nucleotide variantNM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val)not specified [RCV004301508]uncertain significance107323934073239340Humanname
401938404CV2809372single nucleotide variantNM_173348.2(FAM149B1):c.1028G>C (p.Ser343Thr)not provided [RCV003417500]likely benign107323042673230426Humanname
404998153CV2850077single nucleotide variantNM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly)Joubert syndrome 36 [RCV003492999]uncertain significance107323300073233000Human1name
405293006CV3207166single nucleotide variantNM_173348.2(FAM149B1):c.1417C>T (p.Pro473Ser)FAM149B1-related disorder [RCV003931572]likely benign107323488173234881Humanname , trait , alternate_id
405706431CV3224837single nucleotide variantNM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)Joubert syndrome 36 [RCV003990217]likely pathogenic107323486673234866Human1name
405727082CV3259868single nucleotide variantNM_173348.2(FAM149B1):c.1068T>G (p.Asp356Glu)not specified [RCV004378749]uncertain significance107323046673230466Humanname
405727087CV3259869single nucleotide variantNM_173348.2(FAM149B1):c.1079A>G (p.His360Arg)not specified [RCV004378750]uncertain significance107323047773230477Humanname
405727095CV3259870single nucleotide variantNM_173348.2(FAM149B1):c.1106T>G (p.Leu369Arg)not specified [RCV004378751]uncertain significance107323050473230504Humanname
405727107CV3259871single nucleotide variantNM_173348.2(FAM149B1):c.1188T>G (p.Asn396Lys)not specified [RCV004378752]uncertain significance107323299973232999Humanname
405727617CV3259873single nucleotide variantNM_173348.2(FAM149B1):c.1199G>A (p.Arg400Gln)not specified [RCV004378754]uncertain significance107323301073233010Humanname
405727134CV3259874single nucleotide variantNM_173348.2(FAM149B1):c.1273A>G (p.Thr425Ala)not specified [RCV004378755]uncertain significance107323308473233084Humanname
405727143CV3259875single nucleotide variantNM_173348.2(FAM149B1):c.1343G>A (p.Gly448Glu)not specified [RCV004378756]uncertain significance107323315473233154Humanname
405867844CV3396602single nucleotide variantNM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter)Joubert syndrome 36 [RCV004560473]pathogenic107323300973233009Human1name
407508102CV3435499single nucleotide variantNM_173348.2(FAM149B1):c.1489G>A (p.Asp497Asn)not specified [RCV004625304]uncertain significance107323520573235205Humanname
408381872CV3502034single nucleotide variantNM_173348.2(FAM149B1):c.1610C>T (p.Thr537Ile)not provided [RCV004729562]uncertain significance107323931973239319Humanname
408391574CV3528001single nucleotide variantNM_173348.2(FAM149B1):c.1192C>T (p.Pro398Ser)not provided [RCV004775273]uncertain significance107323300373233003Humanname
597737630CV3668587single nucleotide variantNM_173348.2(FAM149B1):c.1597T>C (p.Phe533Leu)not specified [RCV004920871]uncertain significance107323531373235313Humanname
597737635CV3668588single nucleotide variantNM_173348.2(FAM149B1):c.1117G>C (p.Asp373His)not specified [RCV004920872]uncertain significance107323051573230515Humanname
597737639CV3668589single nucleotide variantNM_173348.2(FAM149B1):c.1004T>C (p.Leu335Pro)not specified [RCV004920873]uncertain significance107322816573228165Humanname
597737644CV3668590single nucleotide variantNM_173348.2(FAM149B1):c.1438G>A (p.Val480Met)not specified [RCV004920874]uncertain significance107323490273234902Humanname
597834109CV3735759single nucleotide variantNM_173348.2(FAM149B1):c.1388C>T (p.Pro463Leu)not provided [RCV005063622]|not specified [RCV005336064]uncertain significance107323485273234852Humanname
598224985CV3965910single nucleotide variantNM_173348.2(FAM149B1):c.1742G>C (p.Gly581Ala)not specified [RCV005341373]uncertain significance107324101273241012Humanname
598201215CV4007577single nucleotide variantNM_173348.2(FAM149B1):c.1654C>T (p.Arg552Ter)Joubert syndrome 36 [RCV005398409]uncertain significance107323936373239363Human1name
408391125CV3527896deletionNM_173348.2(FAM149B1):c.592_598del (p.Lys198fs)not provided [RCV004775167]uncertain significance107320866573208671Humanname
21404267CV799078deletionNM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)Joubert syndrome 36 [RCV000999699]|Joubert syndrome [RCV001175205]pathogenic|likely pathogenic107319262973192630Human2name
404998160CV2850078deletionNM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs)Joubert syndrome 36 [RCV003493000]uncertain significance107323527973235283Human1name
408373194CV3502214deletionNM_173348.2(FAM149B1):c.1396_1397del (p.Leu466fs)not provided [RCV004725801]uncertain significance107323486073234861Humanname
598201221CV4007578deletionNM_173348.2(FAM149B1):c.1714_1728del (p.Gly572_Ser576del)Joubert syndrome 36 [RCV005398410]benign107324098473240998Human1name
408391577CV3528000deletionNM_173348.2(FAM149B1):c.666_669del (p.Glu223_Gly224insTer)not provided [RCV004775272]uncertain significance107320874273208745Humanname