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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


123 records found for search term Steap3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405029036CV2925927single nucleotide variantNM_182915.3(STEAP3):c.523-4G>ASTEAP3-related disorder [RCV003946754]|not provided [RCV003578219]benign|likely benign2119247675119247675Human1name , trait , alternate_id
156131963CV2037510single nucleotide variantNM_182915.3(STEAP3):c.1051-20T>Cnot provided [RCV002800648]benign2119254664119254664Humanname
156015534CV2087083single nucleotide variantNM_182915.3(STEAP3):c.1050+12A>Gnot provided [RCV002866336]likely benign2119248218119248218Humanname
126738440CV1019450single nucleotide variantNM_182915.3(STEAP3):c.1215+2654A>THypochromic microcytic anemia with iron overload 2 [RCV001335521]pathogenic2119257502119257502Humanname
401924750CV2812267single nucleotide variantNM_182915.3(STEAP3):c.1215+2604C>TSTEAP3-related disorder [RCV003980912]|not provided [RCV003436127]likely benign2119257452119257452Human1name , trait , alternate_id
405294932CV3214964single nucleotide variantNM_182915.3(STEAP3):c.1215+2737C>TSTEAP3-related disorder [RCV003936822]benign2119257585119257585Humanname , trait , alternate_id
405278917CV3220474single nucleotide variantNM_182915.3(STEAP3):c.1215+2773A>TSTEAP3-related disorder [RCV003976666]benign2119257621119257621Humanname , trait , alternate_id
408367077CV3512072single nucleotide variantNM_182915.3(STEAP3):c.1215+2650C>ASTEAP3-related disorder [RCV004757774]likely benign2119257498119257498Humanname , trait , alternate_id
598178525CV4008453single nucleotide variantNM_182915.3(STEAP3):c.1215+2771C>GSevere congenital hypochromic anemia with ringed sideroblasts [RCV005393972]uncertain significance2119257619119257619Human1name
401916820CV2812262single nucleotide variantNM_182915.3(STEAP3):c.81C>T (p.Ser27=)not provided [RCV003429253]likely benign2119245547119245547Humanname
597703690CV3618590single nucleotide variantNM_182915.3(STEAP3):c.5C>T (p.Ser2Leu)not specified [RCV004860219]uncertain significance2119231017119231017Humanname
329401181CV2446238single nucleotide variantNM_182915.3(STEAP3):c.10C>A (p.Gln4Lys)not specified [RCV004264632]uncertain significance2119231022119231022Humanname
405113493CV2939180single nucleotide variantNM_182915.3(STEAP3):c.129C>T (p.Ile43=)not provided [RCV003666621]likely benign2119245595119245595Humanname
405259572CV3194796single nucleotide variantNM_182915.3(STEAP3):c.105C>T (p.Pro35=)STEAP3-related disorder [RCV003894184]likely benign2119245571119245571Humanname , trait , alternate_id
15156122CV696989single nucleotide variantNM_182915.3(STEAP3):c.282G>A (p.Pro94=)not provided [RCV000946632]benign2119245748119245748Humanname
152162281CV1543918single nucleotide variantNM_182915.3(STEAP3):c.837C>T (p.Leu279=)STEAP3-related disorder [RCV003968723]|not provided [RCV002159854]benign2119247993119247993Human1name , trait , alternate_id
401924761CV2812265single nucleotide variantNM_182915.3(STEAP3):c.615G>A (p.Leu205=)not provided [RCV003436125]likely benign2119247771119247771Humanname
401924749CV2812266single nucleotide variantNM_182915.3(STEAP3):c.645C>T (p.Pro215=)not provided [RCV003436126]likely benign2119247801119247801Humanname
405265425CV3185651single nucleotide variantNM_182915.3(STEAP3):c.978C>T (p.His326=)not provided [RCV003886215]likely benign2119248134119248134Humanname
405286264CV3218730single nucleotide variantNM_182915.3(STEAP3):c.351G>A (p.Ala117=)STEAP3-related disorder [RCV003959448]likely benign2119245817119245817Humanname , trait , alternate_id
405740076CV3334360single nucleotide variantNM_182915.3(STEAP3):c.46G>T (p.Asp16Tyr)not specified [RCV004465573]uncertain significance2119245512119245512Humanname
15162885CV732731single nucleotide variantNM_182915.3(STEAP3):c.43A>G (p.Met15Val)not provided [RCV000903653]likely benign2119245509119245509Humanname
15162891CV732732single nucleotide variantNM_182915.3(STEAP3):c.645C>G (p.Pro215=)not provided [RCV000903654]benign2119247801119247801Humanname
15164374CV746747single nucleotide variantNM_182915.3(STEAP3):c.648G>A (p.Leu216=)not provided [RCV000926366]likely benign2119247804119247804Humanname
152128783CV1583799single nucleotide variantNM_182915.3(STEAP3):c.1002G>A (p.Pro334=)not provided [RCV002199044]likely benign2119248158119248158Humanname
152034229CV1610550single nucleotide variantNM_182915.3(STEAP3):c.1203C>T (p.Phe401=)not provided [RCV002125064]benign2119254836119254836Humanname
155935660CV2221779single nucleotide variantNM_182915.3(STEAP3):c.217C>T (p.Arg73Cys)not provided [RCV003574987]|not specified [RCV004102816]uncertain significance2119245683119245683Humanname
155928663CV2224415single nucleotide variantNM_182915.3(STEAP3):c.245C>A (p.Ala82Asp)not specified [RCV004098022]uncertain significance2119245711119245711Humanname
156288649CV2332930single nucleotide variantNM_182915.3(STEAP3):c.151C>T (p.Arg51Cys)not specified [RCV004192187]uncertain significance2119245617119245617Humanname
155927935CV2349885single nucleotide variantNM_182915.3(STEAP3):c.260A>G (p.Gln87Arg)not provided [RCV003546944]|not specified [RCV004206306]uncertain significance2119245726119245726Humanname
156158942CV2361404single nucleotide variantNM_182915.3(STEAP3):c.254C>T (p.Thr85Ile)not specified [RCV004221052]uncertain significance2119245720119245720Humanname
156031441CV2376361single nucleotide variantNM_182915.3(STEAP3):c.152G>A (p.Arg51His)not specified [RCV004220556]uncertain significance2119245618119245618Humanname
156194720CV2395720single nucleotide variantNM_182915.3(STEAP3):c.204C>A (p.Ser68Arg)not specified [RCV004235258]uncertain significance2119245670119245670Humanname
401731114CV2674265single nucleotide variantNM_182915.3(STEAP3):c.281C>T (p.Pro94Leu)not provided [RCV005102530]|not specified [RCV004289149]uncertain significance2119245747119245747Humanname
401924767CV2812263single nucleotide variantNM_182915.3(STEAP3):c.106G>A (p.Asp36Asn)not provided [RCV003436123]likely benign2119245572119245572Humanname
401924754CV2812269single nucleotide variantNM_182915.3(STEAP3):c.1479G>A (p.Glu493=)not provided [RCV003436129]likely benign2119263320119263320Humanname
405146760CV3024036single nucleotide variantNM_182915.3(STEAP3):c.1422C>G (p.Gly474=)not provided [RCV003702989]likely benign2119263263119263263Humanname
407496154CV3485431single nucleotide variantNM_182915.3(STEAP3):c.182G>A (p.Gly61Asp)not specified [RCV004668056]uncertain significance2119245648119245648Humanname
597747275CV3618584single nucleotide variantNM_182915.3(STEAP3):c.166C>T (p.Arg56Cys)not specified [RCV004866034]uncertain significance2119245632119245632Humanname
597703681CV3618585single nucleotide variantNM_182915.3(STEAP3):c.206G>A (p.Arg69His)not specified [RCV004860218]uncertain significance2119245672119245672Humanname
597747290CV3618589single nucleotide variantNM_182915.3(STEAP3):c.262G>C (p.Glu88Gln)not specified [RCV004866037]uncertain significance2119245728119245728Humanname
597747295CV3618591single nucleotide variantNM_182915.3(STEAP3):c.113C>A (p.Ala38Asp)not specified [RCV004866038]uncertain significance2119245579119245579Humanname
597887500CV3741973single nucleotide variantNM_182915.3(STEAP3):c.1302C>T (p.Tyr434=)not provided [RCV005070693]likely benign2119263143119263143Humanname
598251288CV3919578single nucleotide variantNM_182915.3(STEAP3):c.251T>C (p.Val84Ala)not specified [RCV005277857]uncertain significance2119245717119245717Humanname
15165445CV707693single nucleotide variantNM_182915.3(STEAP3):c.1218C>T (p.Ser406=)not provided [RCV000970950]benign2119263059119263059Humanname
15175536CV719208single nucleotide variantNM_182915.3(STEAP3):c.1011C>T (p.Arg337=)not provided [RCV000884390]benign2119248167119248167Humanname
15163158CV732735single nucleotide variantNM_182915.3(STEAP3):c.1338G>A (p.Leu446=)not provided [RCV000903710]benign2119263179119263179Humanname
15134879CV746748single nucleotide variantNM_182915.3(STEAP3):c.1023C>T (p.Tyr341=)not provided [RCV000920760]likely benign2119248179119248179Humanname
15106308CV780818single nucleotide variantNM_182915.3(STEAP3):c.1269C>T (p.Tyr423=)not provided [RCV000976606]benign2119263110119263110Humanname
152159584CV1588157single nucleotide variantNM_182915.3(STEAP3):c.580G>A (p.Ala194Thr)not provided [RCV002180696]benign2119247736119247736Humanname
152114702CV1659678single nucleotide variantNM_182915.3(STEAP3):c.830T>C (p.Leu277Pro)not provided [RCV002080732]likely benign2119247986119247986Humanname
156366029CV1909275single nucleotide variantNM_182915.3(STEAP3):c.813C>A (p.Cys271Ter)not provided [RCV002602833]likely benign2119247969119247969Humanname
156104117CV1956801single nucleotide variantNM_182915.3(STEAP3):c.637G>A (p.Ala213Thr)not provided [RCV002570955]uncertain significance2119247793119247793Humanname
156376088CV2210446single nucleotide variantNM_182915.3(STEAP3):c.967G>A (p.Ala323Thr)not specified [RCV004089585]uncertain significance2119248123119248123Humanname
155913131CV2245760single nucleotide variantNM_182915.3(STEAP3):c.556C>T (p.Arg186Cys)not specified [RCV004111621]uncertain significance2119247712119247712Humanname
156178620CV2258253single nucleotide variantNM_182915.3(STEAP3):c.407G>A (p.Arg136His)not specified [RCV004121623]uncertain significance2119245873119245873Humanname
155996814CV2288550single nucleotide variantNM_182915.3(STEAP3):c.815T>A (p.Val272Glu)not specified [RCV004152076]uncertain significance2119247971119247971Humanname
156010035CV2290962single nucleotide variantNM_182915.3(STEAP3):c.559G>T (p.Ala187Ser)not specified [RCV004151516]uncertain significance2119247715119247715Humanname
155909207CV2307231single nucleotide variantNM_182915.3(STEAP3):c.526C>G (p.Pro176Ala)not specified [RCV004159693]uncertain significance2119247682119247682Humanname
155976162CV2324608single nucleotide variantNM_182915.3(STEAP3):c.436C>A (p.Leu146Ile)not specified [RCV004172862]uncertain significance2119245902119245902Humanname
156051067CV2336636single nucleotide variantNM_182915.3(STEAP3):c.421G>A (p.Glu141Lys)not provided [RCV003575010]|not specified [RCV004196878]uncertain significance2119245887119245887Humanname
156173923CV2355216single nucleotide variantNM_182915.3(STEAP3):c.944T>C (p.Ile315Thr)not provided [RCV003699008]|not specified [RCV004198591]uncertain significance2119248100119248100Humanname
156065415CV2376083single nucleotide variantNM_182915.3(STEAP3):c.379C>G (p.Pro127Ala)not specified [RCV004220319]uncertain significance2119245845119245845Humanname
156000955CV2378761single nucleotide variantNM_182915.3(STEAP3):c.898C>T (p.Arg300Cys)not specified [RCV004231214]uncertain significance2119248054119248054Humanname
156048651CV2382693single nucleotide variantNM_182915.3(STEAP3):c.746A>C (p.Tyr249Ser)not specified [RCV004233006]uncertain significance2119247902119247902Humanname
156098534CV2385083single nucleotide variantNM_182915.3(STEAP3):c.700G>A (p.Val234Ile)not specified [RCV004228348]likely benign2119247856119247856Humanname
329355375CV2445397single nucleotide variantNM_182915.3(STEAP3):c.470A>G (p.Asn157Ser)not specified [RCV004257471]uncertain significance2119245936119245936Humanname
401893791CV2759825single nucleotide variantNM_182915.3(STEAP3):c.719A>G (p.Asn240Ser)not provided [RCV003549073]|not specified [RCV004343259]likely benign|uncertain significance2119247875119247875Humanname
401924766CV2812264single nucleotide variantNM_182915.3(STEAP3):c.575C>T (p.Ala192Val)not provided [RCV003436124]likely benign2119247731119247731Humanname
402506675CV2880779single nucleotide variantNM_182915.3(STEAP3):c.598G>A (p.Val200Met)not provided [RCV003546432]|not specified [RCV004369129]likely benign|uncertain significance2119247754119247754Humanname
405215394CV2911159single nucleotide variantNM_182915.3(STEAP3):c.776A>G (p.Lys259Arg)not provided [RCV003567715]uncertain significance2119247932119247932Humanname
402508614CV2986051single nucleotide variantNM_182915.3(STEAP3):c.522G>C (p.Gln174His)not provided [RCV003689316]uncertain significance2119245988119245988Humanname
402499193CV3016093single nucleotide variantNM_182915.3(STEAP3):c.632T>C (p.Val211Ala)not provided [RCV003688316]uncertain significance2119247788119247788Humanname
405220403CV3059783single nucleotide variantNM_182915.3(STEAP3):c.649C>A (p.Arg217Ser)not provided [RCV003733156]|not specified [RCV005273856]uncertain significance2119247805119247805Humanname
405740082CV3334361single nucleotide variantNM_182915.3(STEAP3):c.613C>G (p.Leu205Val)not specified [RCV004465574]uncertain significance2119247769119247769Humanname
405740095CV3334363single nucleotide variantNM_182915.3(STEAP3):c.814G>A (p.Val272Met)not specified [RCV004465576]uncertain significance2119247970119247970Humanname
407496147CV3485429single nucleotide variantNM_182915.3(STEAP3):c.853G>A (p.Val285Met)not specified [RCV004668054]uncertain significance2119248009119248009Humanname
597747300CV3618592single nucleotide variantNM_182915.3(STEAP3):c.977A>G (p.His326Arg)not specified [RCV004866039]uncertain significance2119248133119248133Humanname
597969036CV3761317single nucleotide variantNM_182915.3(STEAP3):c.838G>A (p.Val280Met)not provided [RCV005083704]uncertain significance2119247994119247994Humanname
598251262CV3919574single nucleotide variantNM_182915.3(STEAP3):c.503C>A (p.Pro168Gln)not specified [RCV005277853]uncertain significance2119245969119245969Humanname
598251269CV3919575single nucleotide variantNM_182915.3(STEAP3):c.746A>G (p.Tyr249Cys)not specified [RCV005277854]uncertain significance2119247902119247902Humanname
598251277CV3919576single nucleotide variantNM_182915.3(STEAP3):c.556C>A (p.Arg186Ser)not specified [RCV005277855]uncertain significance2119247712119247712Humanname
598251283CV3919577single nucleotide variantNM_182915.3(STEAP3):c.496G>T (p.Ala166Ser)not specified [RCV005277856]likely benign2119245962119245962Humanname
598251295CV3919579single nucleotide variantNM_182915.3(STEAP3):c.436C>T (p.Leu146Phe)not specified [RCV005277858]uncertain significance2119245902119245902Humanname
598178532CV4008454single nucleotide variantNM_182915.3(STEAP3):c.745T>C (p.Tyr249His)Severe congenital hypochromic anemia with ringed sideroblasts [RCV005393973]uncertain significance2119247901119247901Human1name
8572428CV59495single nucleotide variantNM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)Severe congenital hypochromic anemia with ringed sideroblasts [RCV000043521]pathogenic2119245796119245796Human1name
15163190CV707692single nucleotide variantNM_182915.3(STEAP3):c.881G>A (p.Arg294His)not provided [RCV000970428]benign2119248037119248037Humanname
15159364CV719206single nucleotide variantNM_182915.3(STEAP3):c.535G>A (p.Gly179Ser)not provided [RCV000881181]benign2119247691119247691Humanname
15102593CV719207single nucleotide variantNM_182915.3(STEAP3):c.677C>T (p.Thr226Ile)not provided [RCV000892509]likely benign2119247833119247833Humanname
15169075CV732733single nucleotide variantNM_182915.3(STEAP3):c.899G>A (p.Arg300His)not provided [RCV000904986]benign2119248055119248055Humanname
151795068CV1434398single nucleotide variantNM_182915.3(STEAP3):c.1156G>A (p.Val386Met)not provided [RCV001866606]|not specified [RCV004039005]uncertain significance2119254789119254789Humanname
152999714CV1683282single nucleotide variantNM_182915.3(STEAP3):c.1135G>T (p.Gly379Cys)See cases [RCV002252466]|not provided [RCV003120854]uncertain significance2119254768119254768Humanname
156356048CV1880340single nucleotide variantNM_182915.3(STEAP3):c.1259C>T (p.Thr420Met)not provided [RCV003065246]likely benign2119263100119263100Humanname
156196133CV1912327single nucleotide variantNM_182915.3(STEAP3):c.1468G>A (p.Ala490Thr)not provided [RCV002595542]uncertain significance2119263309119263309Humanname
156234951CV2108793single nucleotide variantNM_182915.3(STEAP3):c.1007G>A (p.Arg336His)not provided [RCV002932982]|not specified [RCV004067050]uncertain significance2119248163119248163Humanname
156310903CV2119994single nucleotide variantNM_182915.3(STEAP3):c.1210G>A (p.Val404Ile)not provided [RCV002962612]uncertain significance2119254843119254843Humanname
156230939CV2235105single nucleotide variantNM_182915.3(STEAP3):c.1430G>A (p.Arg477Lys)not specified [RCV004113281]likely benign2119263271119263271Humanname
329362560CV2438883single nucleotide variantNM_182915.3(STEAP3):c.1270G>A (p.Gly424Ser)not specified [RCV004264414]uncertain significance2119263111119263111Humanname
401726568CV2695724single nucleotide variantNM_182915.3(STEAP3):c.1280G>C (p.Arg427Pro)not specified [RCV004299525]uncertain significance2119263121119263121Humanname
401924752CV2812268single nucleotide variantNM_182915.3(STEAP3):c.1330C>G (p.Leu444Val)not provided [RCV003436128]uncertain significance2119263171119263171Humanname
405022353CV2877514single nucleotide variantNM_182915.3(STEAP3):c.1006C>T (p.Arg336Cys)not provided [RCV003577712]uncertain significance2119248162119248162Humanname
405245506CV2969232single nucleotide variantNM_182915.3(STEAP3):c.1099A>C (p.Met367Leu)not provided [RCV003685184]uncertain significance2119254732119254732Humanname
405168013CV3153619single nucleotide variantNM_182915.3(STEAP3):c.1240G>A (p.Val414Met)not provided [RCV003841164]uncertain significance2119263081119263081Humanname
405740039CV3334355single nucleotide variantNM_182915.3(STEAP3):c.1001C>T (p.Pro334Leu)not provided [RCV005104725]|not specified [RCV004465568]likely benign|uncertain significance2119248157119248157Humanname
405740047CV3334356single nucleotide variantNM_182915.3(STEAP3):c.1031T>A (p.Val344Asp)not specified [RCV004465569]uncertain significance2119248187119248187Humanname
405740423CV3334357single nucleotide variantNM_182915.3(STEAP3):c.1033A>T (p.Asn345Tyr)not specified [RCV004465570]uncertain significance2119248189119248189Humanname
405740062CV3334358single nucleotide variantNM_182915.3(STEAP3):c.1310A>G (p.Tyr437Cys)not specified [RCV004465571]uncertain significance2119263151119263151Humanname
407496151CV3485430single nucleotide variantNM_182915.3(STEAP3):c.1169C>T (p.Pro390Leu)not specified [RCV004668055]uncertain significance2119254802119254802Humanname
407496157CV3485432single nucleotide variantNM_182915.3(STEAP3):c.1396C>T (p.Arg466Cys)not provided [RCV005059730]|not specified [RCV004668057]uncertain significance2119263237119263237Humanname
597747266CV3618581single nucleotide variantNM_182915.3(STEAP3):c.1477G>A (p.Glu493Lys)not specified [RCV004866032]uncertain significance2119263318119263318Humanname
597703668CV3618582single nucleotide variantNM_182915.3(STEAP3):c.1397G>A (p.Arg466His)not specified [RCV004860217]uncertain significance2119263238119263238Humanname
597747271CV3618583single nucleotide variantNM_182915.3(STEAP3):c.1460C>T (p.Thr487Ile)not specified [RCV004866033]uncertain significance2119263301119263301Humanname
597747280CV3618586single nucleotide variantNM_182915.3(STEAP3):c.1426G>A (p.Glu476Lys)not specified [RCV004866035]uncertain significance2119263267119263267Humanname
597747285CV3618588single nucleotide variantNM_182915.3(STEAP3):c.1234G>T (p.Ala412Ser)not specified [RCV004866036]uncertain significance2119263075119263075Humanname
597905767CV3803973single nucleotide variantNM_182915.3(STEAP3):c.1484C>T (p.Thr495Met)not provided [RCV005153519]benign2119263325119263325Humanname
597955561CV3841267single nucleotide variantNM_182915.3(STEAP3):c.1414C>T (p.Arg472Trp)not provided [RCV005191386]uncertain significance2119263255119263255Humanname
598213763CV3919573single nucleotide variantNM_182915.3(STEAP3):c.1345C>A (p.Pro449Thr)not specified [RCV005271116]uncertain significance2119263186119263186Humanname
15153701CV719209single nucleotide variantNM_182915.3(STEAP3):c.1019G>A (p.Arg340His)STEAP3-related disorder [RCV003955801]|not provided [RCV000880063]likely benign2119248175119248175Human1name , trait , alternate_id
15125248CV732734single nucleotide variantNM_182915.3(STEAP3):c.1196G>A (p.Arg399Lys)STEAP3-related disorder [RCV003920848]|not provided [RCV000896729]likely benign2119254829119254829Human1name , trait , alternate_id
15157625CV732736single nucleotide variantNM_182915.3(STEAP3):c.1451C>T (p.Thr484Met)STEAP3-related disorder [RCV003958163]|not provided [RCV000902567]benign|likely benign2119263292119263292Human1name , trait , alternate_id
8625115CV80234single nucleotide variantNM_001008410.1(STEAP3):c.52G>A (p.Asp18Asn)Malignant melanoma [RCV000060310]not provided2119245548119245548Humanname
8629810CV84957single nucleotide variantNM_001008410.1(STEAP3):c.693C>T (p.Phe231=)Malignant melanoma [RCV000065039]not provided2119247879119247879Humanname
407487428CV3414948microsatelliteNM_182915.3(STEAP3):c.959TCT[1] (p.Phe321del)not specified [RCV004597283]uncertain significance2119248113119248115Humanname