Send us a Message



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


111 records found for search term Dao
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150447887CV1261882single nucleotide variantNM_001917.5(DAO):c.*102T>Cnot provided [RCV001680267]benign12108900637108900637Humanname
150446564CV1232122single nucleotide variantNM_001917.5(DAO):c.-9-27T>Gnot provided [RCV001646030]benign12108884971108884971Humanname
404990224CV2849954single nucleotide variantNM_001917.5(DAO):c.387-1G>Anot provided [RCV003490673]uncertain significance12108890207108890207Humanname
405274898CV3204526single nucleotide variantNM_001917.5(DAO):c.195-7C>TDAO-related disorder [RCV003951953]likely benign12108887443108887443Humanname , trait , alternate_id
405266524CV3213194single nucleotide variantNM_001917.5(DAO):c.386+2T>CDAO-related disorder [RCV003969337]likely benign12108889547108889547Humanname , trait , alternate_id
405265925CV3220923single nucleotide variantNM_001917.5(DAO):c.508-6T>CDAO-related disorder [RCV003969081]benign12108894257108894257Humanname , trait , alternate_id
15134031CV760162single nucleotide variantNM_001917.5(DAO):c.814-4C>Gnot provided [RCV000920617]likely benign12108899373108899373Humanname
150488168CV1226017single nucleotide variantNM_001917.5(DAO):c.912+69A>Gnot provided [RCV001618178]benign12108899544108899544Humanname
150494288CV1238838single nucleotide variantNM_001917.5(DAO):c.696-25C>Tnot provided [RCV001655382]benign12108898654108898654Humanname
150470051CV1259761single nucleotide variantNM_001917.5(DAO):c.508-55A>Gnot provided [RCV001684062]benign12108894208108894208Human1name
150470051CV1259761single nucleotide variantNM_001917.5(DAO):c.508-55A>Gnot provided [RCV001684062]benign12108894208108894209Human1name
150437297CV1262282single nucleotide variantNM_001917.5(DAO):c.-9-234C>Tnot provided [RCV001678640]benign12108884764108884764Humanname
150471768CV1270142single nucleotide variantNM_001917.5(DAO):c.507+98G>Anot provided [RCV001695430]benign12108893134108893134Humanname
150468126CV1277687single nucleotide variantNM_001917.5(DAO):c.195-99C>Tnot provided [RCV001710982]benign12108887351108887351Humanname
15147165CV779605single nucleotide variantNM_001917.5(DAO):c.309+10C>Tnot provided [RCV000967286]likely benign12108887574108887574Humanname
150510734CV1210555single nucleotide variantNM_001917.5(DAO):c.386+282A>Cnot provided [RCV001597734]benign12108889827108889827Humanname
150480374CV1221957single nucleotide variantNM_001917.5(DAO):c.912+166C>Tnot provided [RCV001616753]benign12108899641108899641Humanname
150515187CV1228759single nucleotide variantNM_001917.5(DAO):c.814-180A>Gnot provided [RCV001638748]benign12108899197108899197Humanname
150430460CV1230891single nucleotide variantNM_001917.5(DAO):c.309+337A>Gnot provided [RCV001641440]benign12108887901108887901Humanname
150500304CV1235894single nucleotide variantNM_001917.5(DAO):c.508-311T>Cnot provided [RCV001656577]benign12108893952108893952Humanname
150457327CV1248768single nucleotide variantNM_001917.5(DAO):c.913-129G>Anot provided [RCV001668944]benign12108900275108900275Humanname
150469401CV1268091single nucleotide variantNM_001917.5(DAO):c.453-182G>Cnot provided [RCV001694954]benign12108892800108892800Humanname
150436464CV1270964single nucleotide variantNM_001917.5(DAO):c.387-258A>Gnot provided [RCV001689514]benign12108889950108889950Humanname
405268890CV3201192single nucleotide variantNM_001917.5(DAO):c.24A>T (p.Ala8=)DAO-related disorder [RCV003899298]likely benign12108885030108885030Humanname , trait , alternate_id
401936515CV2798631single nucleotide variantNM_001917.5(DAO):c.4C>A (p.Arg2Ser)DAO-related disorder [RCV003414528]uncertain significance12108885010108885010Humanname , trait , alternate_id
405679803CV3236737single nucleotide variantNM_001917.5(DAO):c.4C>T (p.Arg2Cys)Inborn genetic diseases [RCV004370888]uncertain significance12108885010108885010Human1name
15168633CV738418single nucleotide variantNM_001917.5(DAO):c.33C>T (p.Ile11=)DAO-related disorder [RCV003910811]|not provided [RCV000904896]likely benign12108885039108885039Humanname , trait , alternate_id
15117615CV738419single nucleotide variantNM_001917.5(DAO):c.45C>T (p.Thr15=)DAO-related disorder [RCV003968184]|not provided [RCV000895408]likely benign12108885051108885051Humanname , trait , alternate_id
8634483CV89703single nucleotide variantNM_001917.4(DAO):c.57C>T (p.Ile19=)Malignant melanoma [RCV000069800]not provided12108885063108885063Humanname
150445559CV1269454single nucleotide variantNM_001917.5(DAO):c.279G>A (p.Ser93=)DAO-related disorder [RCV003975995]|not provided [RCV001691142]benign12108887534108887534Humanname , trait , alternate_id
405292474CV3196568single nucleotide variantNM_001917.5(DAO):c.108G>A (p.Ala36=)DAO-related disorder [RCV003964569]likely benign12108885114108885114Humanname , trait , alternate_id
405267139CV3202201single nucleotide variantNM_001917.5(DAO):c.132C>A (p.Thr44=)DAO-related disorder [RCV003911670]likely benign12108885138108885138Humanname , trait , alternate_id
405265648CV3215624single nucleotide variantNM_001917.5(DAO):c.147C>T (p.Ala49=)DAO-related disorder [RCV003946805]likely benign12108885153108885153Humanname , trait , alternate_id
598251455CV3963373single nucleotide variantNM_001917.5(DAO):c.17T>C (p.Ile6Thr)Inborn genetic diseases [RCV005323065]uncertain significance12108885023108885023Human1name
151717479CV1334959single nucleotide variantNM_001917.5(DAO):c.34G>A (p.Gly12Arg)Amyotrophic lateral sclerosis [RCV001843917]uncertain significance12108885040108885040Human2name
401902318CV2804334single nucleotide variantNM_001917.5(DAO):c.309G>A (p.Pro103=)DAO-related disorder [RCV003418824]uncertain significance12108887564108887564Humanname , trait , alternate_id
405282170CV3216208single nucleotide variantNM_001917.5(DAO):c.483G>A (p.Gln161=)DAO-related disorder [RCV003956731]likely benign12108893012108893012Humanname , trait , alternate_id
405278970CV3220193single nucleotide variantNM_001917.5(DAO):c.384C>T (p.Tyr128=)DAO-related disorder [RCV003954796]likely benign12108889543108889543Humanname , trait , alternate_id
408377479CV3507949single nucleotide variantNM_001917.5(DAO):c.717A>G (p.Gly239=)DAO-related disorder [RCV004751016]likely benign12108898700108898700Humanname , trait , alternate_id
408378765CV3516054single nucleotide variantNM_001917.5(DAO):c.411A>C (p.Leu137=)DAO-related disorder [RCV004752427]likely benign12108890232108890232Humanname , trait , alternate_id
597672983CV3655199single nucleotide variantNM_001917.5(DAO):c.61G>A (p.Glu21Lys)Inborn genetic diseases [RCV004981573]uncertain significance12108885067108885067Human1name
15141554CV738420single nucleotide variantNM_001917.5(DAO):c.300A>G (p.Glu100=)DAO-related disorder [RCV003912842]|not provided [RCV000899516]benign|likely benign12108887555108887555Humanname , trait , alternate_id
15117795CV753067single nucleotide variantNM_001917.5(DAO):c.618C>T (p.Asp206=)not provided [RCV000917860]likely benign12108897011108897011Humanname
15199123CV753068single nucleotide variantNM_001917.5(DAO):c.723C>T (p.Ile241=)DAO-related disorder [RCV003933002]|not provided [RCV000912454]benign|likely benign12108898706108898706Humanname , trait , alternate_id
15112635CV753069single nucleotide variantNM_001917.5(DAO):c.927T>C (p.Tyr309=)not provided [RCV000916948]likely benign12108900418108900418Humanname
15187089CV768872single nucleotide variantNM_001917.5(DAO):c.840T>A (p.Thr280=)not provided [RCV000931554]likely benign12108899403108899403Humanname
28876681CV861387single nucleotide variantNM_001917.5(DAO):c.46G>A (p.Ala16Thr)Amyotrophic lateral sclerosis [RCV001095492]|DAO-related disorder [RCV003396745]likely benign|uncertain significance12108885052108885052Human2name , trait , alternate_id
156240586CV2265557single nucleotide variantNM_001917.5(DAO):c.173A>T (p.Asp58Val)Inborn genetic diseases [RCV002830499]uncertain significance12108885179108885179Human1name
401936540CV2798690single nucleotide variantNM_001917.5(DAO):c.113G>A (p.Arg38His)DAO-related disorder [RCV003414555]uncertain significance12108885119108885119Humanname , trait , alternate_id
405269110CV3199166single nucleotide variantNM_001917.5(DAO):c.268T>G (p.Phe90Val)DAO-related disorder [RCV003912267]likely benign12108887523108887523Humanname , trait , alternate_id
405267845CV3219469single nucleotide variantNM_001917.5(DAO):c.187C>G (p.Gln63Glu)DAO-related disorder [RCV003969689]likely benign12108885193108885193Humanname , trait , alternate_id
405679798CV3236736single nucleotide variantNM_001917.5(DAO):c.160C>A (p.Pro54Thr)Inborn genetic diseases [RCV004370887]uncertain significance12108885166108885166Human1name
407452963CV3430095single nucleotide variantNM_001917.5(DAO):c.101T>A (p.Val34Asp)Inborn genetic diseases [RCV004608763]uncertain significance12108885107108885107Human1name
408378882CV3517407single nucleotide variantNM_001917.5(DAO):c.112C>T (p.Arg38Cys)DAO-related disorder [RCV004752486]uncertain significance12108885118108885118Humanname , trait , alternate_id
597672993CV3655201single nucleotide variantNM_001917.5(DAO):c.221A>G (p.Tyr74Cys)Inborn genetic diseases [RCV004981575]uncertain significance12108887476108887476Human1name
28876685CV861388single nucleotide variantNM_001917.5(DAO):c.212C>T (p.Thr71Ile)Amyotrophic lateral sclerosis [RCV001095493]uncertain significance12108887467108887467Human2name
40815154CV964791single nucleotide variantNM_001917.5(DAO):c.250G>A (p.Ala84Thr)Amyotrophic lateral sclerosis [RCV001260559]|DAO-related disorder [RCV003399030]likely pathogenic|uncertain significance|no classifications from unflagged records12108887505108887505Human2name , trait , alternate_id
155920003CV2254972single nucleotide variantNM_001917.5(DAO):c.641T>C (p.Ile214Thr)Inborn genetic diseases [RCV002772864]uncertain significance12108897034108897034Human1name
156136518CV2257134single nucleotide variantNM_001917.5(DAO):c.632A>T (p.Lys211Met)Inborn genetic diseases [RCV002825922]uncertain significance12108897025108897025Human1name
155946041CV2265965single nucleotide variantNM_001917.5(DAO):c.344G>A (p.Arg115Gln)Inborn genetic diseases [RCV002839837]uncertain significance12108889503108889503Human1name
156130645CV2372655single nucleotide variantNM_001917.5(DAO):c.502G>A (p.Glu168Lys)Inborn genetic diseases [RCV002708449]uncertain significance12108893031108893031Human1name
329374750CV2440009single nucleotide variantNM_001917.5(DAO):c.523G>A (p.Ala175Thr)Inborn genetic diseases [RCV003185566]uncertain significance12108894278108894278Human1name
401856942CV2759881single nucleotide variantNM_001917.5(DAO):c.539A>G (p.Asn180Ser)Inborn genetic diseases [RCV003356430]uncertain significance12108894294108894294Human1name
401863647CV2770775single nucleotide variantNM_001917.5(DAO):c.314C>G (p.Pro105Arg)Inborn genetic diseases [RCV003359074]uncertain significance12108889473108889473Human1name
401920434CV2797628single nucleotide variantNM_001917.5(DAO):c.704C>T (p.Thr235Ile)DAO-related disorder [RCV003402634]uncertain significance12108898687108898687Humanname , trait , alternate_id
401913626CV2798973single nucleotide variantNM_001917.5(DAO):c.391G>T (p.Gly131Cys)DAO-related disorder [RCV003400183]uncertain significance12108890212108890212Humanname , trait , alternate_id
401902835CV2799670single nucleotide variantNM_001917.5(DAO):c.890G>A (p.Arg297His)DAO-related disorder [RCV003419090]uncertain significance12108899453108899453Humanname , trait , alternate_id
401933488CV2804110single nucleotide variantNM_001917.5(DAO):c.869G>A (p.Arg290Gln)DAO-related disorder [RCV003392849]uncertain significance12108899432108899432Humanname , trait , alternate_id
404990231CV2849955single nucleotide variantNM_001917.5(DAO):c.943G>A (p.Gly315Arg)not provided [RCV003490674]uncertain significance12108900434108900434Humanname
404990238CV2849956single nucleotide variantNM_001917.5(DAO):c.953T>G (p.Ile318Ser)not provided [RCV003490675]uncertain significance12108900444108900444Humanname
405279576CV3191415single nucleotide variantNM_001917.5(DAO):c.595C>T (p.Arg199Trp)DAO-related disorder [RCV003919573]likely benign12108894350108894350Humanname , trait , alternate_id
405271751CV3202971single nucleotide variantNM_001917.5(DAO):c.856C>T (p.Arg286Cys)DAO-related disorder [RCV003914028]uncertain significance12108899419108899419Humanname , trait , alternate_id
405270106CV3215409single nucleotide variantNM_001917.5(DAO):c.596G>A (p.Arg199Gln)DAO-related disorder [RCV003949160]likely benign12108894351108894351Humanname , trait , alternate_id
405265919CV3215796single nucleotide variantNM_001917.5(DAO):c.848G>A (p.Arg283Gln)DAO-related disorder [RCV003946946]likely benign12108899411108899411Humanname , trait , alternate_id
405679812CV3236739single nucleotide variantNM_001917.5(DAO):c.857G>A (p.Arg286His)Inborn genetic diseases [RCV004370890]uncertain significance12108899420108899420Human1name
408379007CV3517331single nucleotide variantNM_001917.5(DAO):c.386G>A (p.Gly129Asp)DAO-related disorder [RCV004752484]likely benign12108889545108889545Humanname , trait , alternate_id
597672985CV3655200single nucleotide variantNM_001917.5(DAO):c.889C>T (p.Arg297Cys)Inborn genetic diseases [RCV004981574]uncertain significance12108899452108899452Human1name
598251458CV3963374single nucleotide variantNM_001917.5(DAO):c.839C>A (p.Thr280Asn)Inborn genetic diseases [RCV005323066]uncertain significance12108899402108899402Human1name
15164349CV724866single nucleotide variantNM_001917.5(DAO):c.308C>T (p.Pro103Leu)not provided [RCV000882175]likely benign12108887563108887563Humanname
15189156CV738421single nucleotide variantNM_001917.5(DAO):c.430T>C (p.Tyr144His)DAO-related disorder [RCV003932958]|not provided [RCV000909570]benign|likely benign12108890251108890251Humanname , trait , alternate_id
28876689CV861389single nucleotide variantNM_001917.5(DAO):c.490G>T (p.Val164Leu)not specified [RCV001095494]likely benign12108893019108893019Humanname
28876695CV861390single nucleotide variantNM_001917.5(DAO):c.962G>A (p.Gly321Glu)Amyotrophic lateral sclerosis [RCV001095495]uncertain significance12108900453108900453Human2name
156388171CV2380168single nucleotide variantNM_001917.5(DAO):c.1028C>T (p.Pro343Leu)Inborn genetic diseases [RCV002680261]uncertain significance12108900519108900519Human1name
401943424CV2840038single nucleotide variantNM_001917.5(DAO):c.1034C>T (p.Ser345Phe)DAO-related disorder [RCV003946633]|not provided [RCV003456825]uncertain significance12108900525108900525Humanname , trait , alternate_id
408378562CV3513143single nucleotide variantNM_001917.5(DAO):c.1039C>T (p.Leu347Phe)DAO-related disorder [RCV004752275]uncertain significance12108900530108900530Humanname , trait , alternate_id
598251462CV3963375single nucleotide variantNM_001917.5(DAO):c.1026G>A (p.Met342Ile)Inborn genetic diseases [RCV005323067]uncertain significance12108900517108900517Human1name
405270756CV3212070deletionNM_001917.5(DAO):c.150_155del (p.Leu51_Trp52del)DAO-related disorder [RCV003949450]likely benign12108885155108885160Humanname , trait , alternate_id
598223169CV3893972single nucleotide variantNM_172370.5(DAOA):c.133+2T>Anot provided [RCV005257215]benign13105467143105467143Humanname
15160718CV778006single nucleotide variantNM_172370.5(DAOA):c.281+8T>Cnot provided [RCV000947540]benign13105472693105472693Humanname
405679818CV3236740single nucleotide variantNM_172370.5(DAOA):c.195T>C (p.His65=)not specified [RCV004370891]likely benign13105472599105472599Humanname
405679827CV3236742single nucleotide variantNM_172370.5(DAOA):c.240A>C (p.Ser80=)not specified [RCV004370893]likely benign13105472644105472644Humanname
15160711CV702571single nucleotide variantNM_172370.5(DAOA):c.240A>T (p.Ser80=)not provided [RCV000947539]benign13105472644105472644Humanname
15198512CV753687single nucleotide variantNM_172370.5(DAOA):c.223A>C (p.Arg75=)not provided [RCV000912280]likely benign13105472627105472627Humanname
8644930CV104337single nucleotide variantNM_172370.5(DAOA):c.89G>A (p.Arg30Lys)not provided [RCV000084735]not provided13105467097105467097Humanname
597674678CV3655203single nucleotide variantNM_172370.5(DAOA):c.93C>A (p.Ser31Arg)not specified [RCV004913635]uncertain significance13105467101105467101Humanname
598251474CV3963378single nucleotide variantNM_172370.5(DAOA):c.91A>G (p.Ser31Gly)not specified [RCV005323070]uncertain significance13105467099105467099Humanname
8644931CV104338single nucleotide variantNM_172370.5(DAOA):c.126C>G (p.Asn42Lys)not provided [RCV000084736]not provided13105467134105467134Humanname
8644932CV104339single nucleotide variantNM_172370.5(DAOA):c.253G>T (p.Val85Phe)not provided [RCV000084737]not provided13105472657105472657Humanname
8644933CV104340single nucleotide variantNM_172370.5(DAOA):c.271C>T (p.Pro91Ser)not provided [RCV000084738]not provided13105472675105472675Humanname
156395223CV2325287single nucleotide variantNM_172370.5(DAOA):c.238T>A (p.Ser80Thr)not specified [RCV004177682]uncertain significance13105472642105472642Humanname
401747730CV2696777single nucleotide variantNM_172370.5(DAOA):c.110C>A (p.Ser37Tyr)not specified [RCV004290749]uncertain significance13105467118105467118Humanname
405679823CV3236741single nucleotide variantNM_172370.5(DAOA):c.227A>G (p.His76Arg)not specified [RCV004370892]uncertain significance13105472631105472631Humanname
407452964CV3430096single nucleotide variantNM_172370.5(DAOA):c.282G>C (p.Glu94Asp)not specified [RCV004608764]uncertain significance13105489901105489901Humanname
407452967CV3430097single nucleotide variantNM_172370.5(DAOA):c.130A>G (p.Ile44Val)not specified [RCV004608765]uncertain significance13105467138105467138Humanname
598251464CV3963376single nucleotide variantNM_172370.5(DAOA):c.216G>T (p.Met72Ile)not specified [RCV005323068]uncertain significance13105472620105472620Humanname
598251479CV3963379single nucleotide variantNM_172370.5(DAOA):c.202G>A (p.Gly68Ser)not specified [RCV005323071]likely benign13105472606105472606Humanname
8644934CV104341single nucleotide variantNM_172370.5(DAOA):c.434A>G (p.Lys145Arg)not provided [RCV000084739]not provided13105490053105490053Humanname
156118112CV2278977single nucleotide variantNM_172370.5(DAOA):c.382C>G (p.Arg128Gly)not specified [RCV004145668]uncertain significance13105490001105490001Humanname
597674670CV3655202single nucleotide variantNM_172370.5(DAOA):c.365G>A (p.Arg122His)not specified [RCV004913634]uncertain significance13105489984105489984Humanname
598251469CV3963377single nucleotide variantNM_172370.5(DAOA):c.322G>C (p.Ala108Pro)not specified [RCV005323069]uncertain significance13105489941105489941Humanname
15160722CV702572single nucleotide variantNM_172370.5(DAOA):c.406C>G (p.Gln136Glu)not provided [RCV000947541]benign13105490025105490025Humanname