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207 records found for search term Slc25a32
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150539270CV1308583single nucleotide variantNM_030780.5(SLC25A32):c.*4C>TSLC25A32-related disorder [RCV003976163]|not provided [RCV001766087]benign|likely benign8103400407103400407Human1name , trait , alternate_id
150459117CV1236047deletionNM_030780.5(SLC25A32):c.*164delnot provided [RCV001649018]benign8103400247103400247Humanname
150439423CV1247717single nucleotide variantNM_030780.5(SLC25A32):c.*251G>Tnot provided [RCV001666084]benign8103400160103400160Humanname
150489915CV1279341single nucleotide variantNM_030780.5(SLC25A32):c.*122T>Anot provided [RCV001716380]benign8103400289103400289Humanname
155267706CV1705106single nucleotide variantNM_030780.4(SLC25A32):c.-189G>Anot provided [RCV002285711]likely benign8103415126103415126Humanname
152091492CV1528770single nucleotide variantNM_030780.5(SLC25A32):c.553-7C>Tnot provided [RCV002094244]benign8103402061103402061Humanname
152125362CV1646164single nucleotide variantNM_030780.5(SLC25A32):c.154+7G>Tnot provided [RCV002217327]likely benign8103414777103414777Humanname
156444030CV1941311single nucleotide variantNM_030780.5(SLC25A32):c.306-4T>Cnot provided [RCV003114947]likely benign8103404865103404865Humanname
156444825CV1948869single nucleotide variantNM_030780.5(SLC25A32):c.155-4G>Tnot provided [RCV003115755]likely benign8103407788103407788Humanname
156366367CV2020928single nucleotide variantNM_030780.5(SLC25A32):c.666+6A>Gnot provided [RCV002721211]uncertain significance8103401935103401935Humanname
155948434CV2136659single nucleotide variantNM_030780.5(SLC25A32):c.154+7G>Anot provided [RCV002994483]likely benign8103414777103414777Humanname
402471816CV2912039single nucleotide variantNM_030780.5(SLC25A32):c.155-1G>Tnot provided [RCV003570656]uncertain significance8103407785103407785Humanname
402473068CV2971729duplicationNM_030780.5(SLC25A32):c.154+2dupnot provided [RCV003684674]uncertain significance8103414781103414782Humanname
405146149CV3023894single nucleotide variantNM_030780.5(SLC25A32):c.392-1G>Anot provided [RCV003702901]uncertain significance8103403325103403325Humanname
405202854CV3036358single nucleotide variantNM_030780.5(SLC25A32):c.813-6C>Gnot provided [RCV003707627]uncertain significance8103400552103400552Humanname
405236067CV3079489single nucleotide variantNM_030780.5(SLC25A32):c.391+9A>GSLC25A32-related disorder [RCV003966661]|not provided [RCV003735846]likely benign8103404767103404767Human1name , trait , alternate_id
405197052CV3146622single nucleotide variantNM_030780.5(SLC25A32):c.553-4G>Anot provided [RCV003843977]likely benign8103402058103402058Humanname
402484564CV3171200single nucleotide variantNM_030780.5(SLC25A32):c.155-9T>Cnot provided [RCV003876227]likely benign8103407793103407793Humanname
597836031CV3757609single nucleotide variantNM_030780.5(SLC25A32):c.666+6A>Cnot provided [RCV005085623]uncertain significance8103401935103401935Humanname
150440931CV1233462single nucleotide variantNM_030780.5(SLC25A32):c.813-56G>Anot provided [RCV001645150]benign8103400602103400602Humanname
150476199CV1239846single nucleotide variantNM_030780.5(SLC25A32):c.812+10C>ASLC25A32-related disorder [RCV003921299]|not provided [RCV001652023]benign8103401506103401506Human1name , trait , alternate_id
150472674CV1272528single nucleotide variantNM_030780.5(SLC25A32):c.553-56A>Gnot provided [RCV001695584]benign8103402110103402110Humanname
150478935CV1273381single nucleotide variantNM_030780.5(SLC25A32):c.155-88A>Gnot provided [RCV001696584]benign8103407872103407872Humanname
150466918CV1277484single nucleotide variantNM_030780.5(SLC25A32):c.155-97A>Gnot provided [RCV001710779]benign8103407881103407881Humanname
150532476CV1309221deletionNM_030780.5(SLC25A32):c.392-86delnot provided [RCV001752902]likely benign8103403410103403410Humanname
152118609CV1522393single nucleotide variantNM_030780.5(SLC25A32):c.553-13C>Anot provided [RCV002081240]benign8103402067103402067Humanname
152110005CV1563959duplicationNM_030780.5(SLC25A32):c.813-11dupnot provided [RCV002174209]benign8103400556103400557Humanname
152156176CV1585947single nucleotide variantNM_030780.5(SLC25A32):c.154+14C>Anot provided [RCV002140207]likely benign8103414770103414770Humanname
152091471CV1662203single nucleotide variantNM_030780.5(SLC25A32):c.812+20C>Anot provided [RCV002132099]benign|likely benign8103401496103401496Humanname
155268884CV1705710single nucleotide variantNM_030780.5(SLC25A32):c.306-78G>Anot provided [RCV002286318]likely benign8103404939103404939Humanname
156129214CV1962621single nucleotide variantNM_030780.5(SLC25A32):c.392-17T>Cnot provided [RCV002572164]likely benign8103403341103403341Humanname
156415779CV1966247single nucleotide variantNM_030780.5(SLC25A32):c.391+10T>Cnot provided [RCV002589362]likely benign8103404766103404766Humanname
156415960CV1983834single nucleotide variantNM_030780.5(SLC25A32):c.667-14T>Cnot provided [RCV002609926]likely benign8103401675103401675Humanname
156119932CV2004126single nucleotide variantNM_030780.5(SLC25A32):c.154+14C>Tnot provided [RCV002662816]likely benign8103414770103414770Humanname
156203729CV2004320single nucleotide variantNM_030780.5(SLC25A32):c.154+15A>Gnot provided [RCV002666588]likely benign8103414769103414769Humanname
155956917CV2010490single nucleotide variantNM_030780.5(SLC25A32):c.553-11T>Cnot provided [RCV002686314]likely benign8103402065103402065Humanname
156094020CV2014257single nucleotide variantNM_030780.5(SLC25A32):c.812+11G>Anot provided [RCV002695047]likely benign8103401505103401505Humanname
156119243CV2035780single nucleotide variantNM_030780.5(SLC25A32):c.812+10C>Tnot provided [RCV002785723]likely benign8103401506103401506Humanname
156035973CV2178527single nucleotide variantNM_030780.5(SLC25A32):c.154+19A>Tnot provided [RCV003036378]likely benign8103414765103414765Humanname
405146872CV2959921single nucleotide variantNM_030780.5(SLC25A32):c.552+20T>Gnot provided [RCV003669702]likely benign8103403144103403144Humanname
402491860CV2980970single nucleotide variantNM_030780.5(SLC25A32):c.306-19T>Gnot provided [RCV003713782]likely benign8103404880103404880Humanname
405230478CV2987341single nucleotide variantNM_030780.5(SLC25A32):c.305+13G>Cnot provided [RCV003711374]likely benign8103407621103407621Humanname
404995111CV3132545single nucleotide variantNM_030780.5(SLC25A32):c.812+16A>Gnot provided [RCV003827484]likely benign8103401500103401500Humanname
405109606CV3136797single nucleotide variantNM_030780.5(SLC25A32):c.306-15A>Gnot provided [RCV003835951]likely benign8103404876103404876Humanname
405199509CV3147095single nucleotide variantNM_030780.5(SLC25A32):c.552+19A>Gnot provided [RCV003844255]likely benign8103403145103403145Humanname
405156745CV3159354single nucleotide variantNM_030780.5(SLC25A32):c.552+17A>Gnot provided [RCV003856619]likely benign8103403147103403147Humanname
597873361CV3747319single nucleotide variantNM_030780.5(SLC25A32):c.552+15A>Gnot provided [RCV005069003]likely benign8103403149103403149Humanname
597859072CV3822438single nucleotide variantNM_030780.5(SLC25A32):c.391+18A>Gnot provided [RCV005174736]likely benign8103404758103404758Humanname
150433336CV1216876single nucleotide variantNM_030780.5(SLC25A32):c.813-161G>Anot provided [RCV001608778]benign8103400707103400707Humanname
150513924CV1227968single nucleotide variantNM_030780.5(SLC25A32):c.391+219G>Anot provided [RCV001638246]benign8103404557103404557Humanname
150507826CV1229185single nucleotide variantNM_030780.5(SLC25A32):c.155-280C>Tnot provided [RCV001636056]benign8103408064103408064Humanname
150429996CV1231566single nucleotide variantNM_030780.5(SLC25A32):c.154+102A>Gnot provided [RCV001641133]benign8103414682103414682Humanname
150501034CV1238302duplicationNM_030780.5(SLC25A32):c.392-106dupnot provided [RCV001656732]benign8103403409103403410Humanname
150503623CV1241842single nucleotide variantNM_030780.5(SLC25A32):c.154+214T>Gnot provided [RCV001657434]benign8103414570103414570Humanname
150433722CV1243772single nucleotide variantNM_030780.5(SLC25A32):c.552+274G>Anot provided [RCV001664978]benign8103402890103402890Humanname
150491090CV1251134single nucleotide variantNM_030780.5(SLC25A32):c.553-311T>Cnot provided [RCV001674802]benign8103402365103402365Humanname
150503925CV1257893single nucleotide variantNM_030780.5(SLC25A32):c.812+243G>Anot provided [RCV001677581]benign8103401273103401273Humanname
8649691CV126265single nucleotide variantNM_030780.4(SLC25A32):c.155-745G>TLung cancer [RCV000106752]uncertain significance8103408529103408529Humanname
150443192CV1266358single nucleotide variantNM_030780.5(SLC25A32):c.306-261T>Cnot provided [RCV001690794]benign8103405122103405122Humanname
150456873CV1269135deletionNM_030780.5(SLC25A32):c.154+104delnot provided [RCV001692959]benign8103414680103414680Humanname
150457908CV1269558single nucleotide variantNM_030780.5(SLC25A32):c.391+171T>Gnot provided [RCV001693098]benign8103404605103404605Humanname
150495539CV1272657single nucleotide variantNM_030780.5(SLC25A32):c.391+203G>Anot provided [RCV001688580]benign8103404573103404573Humanname
150496279CV1272844single nucleotide variantNM_030780.5(SLC25A32):c.155-188A>Tnot provided [RCV001688767]benign8103407972103407972Humanname
155267598CV1704998microsatelliteNM_030780.5(SLC25A32):c.155-158TA[6]not provided [RCV002285603]likely benign8103407932103407933Humanname
405033563CV3075226duplicationNM_030780.5(SLC25A32):c.306-7_306-3dupnot provided [RCV003739331]likely benign8103404863103404864Humanname
405156768CV3152456single nucleotide variantNM_030780.5(SLC25A32):c.9C>T (p.Gly3=)not provided [RCV003840383]likely benign8103414929103414929Humanname
597844020CV3756214single nucleotide variantNM_030780.5(SLC25A32):c.15C>T (p.Gly5=)not provided [RCV005081531]likely benign8103414923103414923Humanname
150535531CV1306828duplicationNM_030780.5(SLC25A32):c.392-88_392-86dupnot provided [RCV001758882]likely benign8103403409103403410Humanname
150545033CV1307579deletionNM_030780.5(SLC25A32):c.392-91_392-86delnot provided [RCV001774857]likely benign8103403410103403415Humanname
156413997CV1979224single nucleotide variantNM_030780.5(SLC25A32):c.63C>G (p.Val21=)not provided [RCV002609006]likely benign8103414875103414875Humanname
156391220CV1991277single nucleotide variantNM_030780.5(SLC25A32):c.7G>A (p.Gly3Ser)not provided [RCV002635007]uncertain significance8103414931103414931Humanname
156083195CV2144599single nucleotide variantNM_030780.5(SLC25A32):c.60C>T (p.His20=)not provided [RCV003020419]likely benign8103414878103414878Humanname
405178410CV3148698single nucleotide variantNM_030780.5(SLC25A32):c.84G>A (p.Ala28=)not provided [RCV003858476]likely benign8103414854103414854Humanname
597854128CV3847198single nucleotide variantNM_030780.5(SLC25A32):c.1A>G (p.Met1Val)not provided [RCV005188118]uncertain significance8103414937103414937Humanname
152162232CV1534981single nucleotide variantNM_030780.5(SLC25A32):c.180G>A (p.Pro60=)SLC25A32-related disorder [RCV003951269]|not provided [RCV002141115]likely benign8103407759103407759Human1name , trait , alternate_id
152074997CV1544738single nucleotide variantNM_030780.5(SLC25A32):c.156G>C (p.Val52=)not provided [RCV002169792]likely benign8103407783103407783Humanname
402521474CV3011199single nucleotide variantNM_030780.5(SLC25A32):c.297C>T (p.Tyr99=)not provided [RCV003716464]likely benign8103407642103407642Humanname
405063590CV3148507single nucleotide variantNM_030780.5(SLC25A32):c.20C>A (p.Ser7Ter)not provided [RCV003850463]uncertain significance8103414918103414918Humanname
405274263CV3192065single nucleotide variantNM_030780.5(SLC25A32):c.129C>T (p.Leu43=)SLC25A32-related disorder [RCV003923988]likely benign8103414809103414809Humanname , trait , alternate_id
597842887CV3739603single nucleotide variantNM_030780.5(SLC25A32):c.118C>T (p.Leu40=)not provided [RCV005063822]likely benign8103414820103414820Humanname
597852288CV3833037single nucleotide variantNM_030780.5(SLC25A32):c.22G>A (p.Ala8Thr)not provided [RCV005166934]uncertain significance8103414916103414916Humanname
150337830CV1171798duplicationNM_030780.5(SLC25A32):c.392-106_392-105dupnot provided [RCV001541874]benign8103403409103403410Humanname
151849336CV1354974single nucleotide variantNM_030780.5(SLC25A32):c.35C>T (p.Ser12Leu)not provided [RCV001957761]|not specified [RCV004043022]uncertain significance8103414903103414903Humanname
152063546CV1535630single nucleotide variantNM_030780.5(SLC25A32):c.396C>T (p.Ala132=)not provided [RCV002168306]likely benign8103403320103403320Humanname
152080449CV1580027single nucleotide variantNM_030780.5(SLC25A32):c.927C>T (p.Asp309=)not provided [RCV002076297]likely benign8103400432103400432Humanname
152066526CV1636519single nucleotide variantNM_030780.5(SLC25A32):c.693A>G (p.Ala231=)not provided [RCV002110866]likely benign8103401635103401635Humanname
156077978CV1912519single nucleotide variantNM_030780.5(SLC25A32):c.687T>C (p.Ser229=)not provided [RCV002591480]likely benign|uncertain significance8103401641103401641Humanname
156201361CV1916793single nucleotide variantNM_030780.5(SLC25A32):c.723A>G (p.Ala241=)not provided [RCV002595715]likely benign8103401605103401605Humanname
156394520CV1958766single nucleotide variantNM_030780.5(SLC25A32):c.681T>C (p.Tyr227=)not provided [RCV002584227]likely benign|uncertain significance8103401647103401647Humanname
155915621CV1980825single nucleotide variantNM_030780.5(SLC25A32):c.537G>A (p.Val179=)not provided [RCV002614297]likely benign8103403179103403179Humanname
156400411CV1982249single nucleotide variantNM_030780.5(SLC25A32):c.582G>A (p.Ser194=)not provided [RCV002635914]likely benign8103402025103402025Humanname
156073377CV1989184single nucleotide variantNM_030780.5(SLC25A32):c.801A>G (p.Thr267=)not provided [RCV002638668]likely benign8103401527103401527Humanname
156322993CV2067737single nucleotide variantNM_030780.5(SLC25A32):c.546A>G (p.Leu182=)not provided [RCV002834830]likely benign8103403170103403170Humanname
156011110CV2079759deletionNM_030780.5(SLC25A32):c.285del (p.Trp96fs)not provided [RCV002866113]uncertain significance8103407654103407654Humanname
155957587CV2087092single nucleotide variantNM_030780.5(SLC25A32):c.405C>T (p.Leu135=)not provided [RCV002862692]likely benign8103403311103403311Humanname
156099412CV2117069single nucleotide variantNM_030780.5(SLC25A32):c.357G>A (p.Glu119=)not provided [RCV002952681]benign8103404810103404810Humanname
156091822CV2135583single nucleotide variantNM_030780.5(SLC25A32):c.822C>T (p.Gly274=)SLC25A32-related disorder [RCV003961344]|not provided [RCV003001860]likely benign|uncertain significance8103400537103400537Human1name , trait , alternate_id
156068052CV2176215single nucleotide variantNM_030780.5(SLC25A32):c.462T>A (p.Ala154=)not provided [RCV003053630]likely benign8103403254103403254Humanname
156237150CV2183777single nucleotide variantNM_030780.5(SLC25A32):c.651A>G (p.Leu217=)not provided [RCV003059527]likely benign8103401956103401956Humanname
329349736CV2442972single nucleotide variantNM_030780.5(SLC25A32):c.64C>T (p.Arg22Trp)not provided [RCV003730437]|not specified [RCV004253565]uncertain significance8103414874103414874Humanname
401858702CV2786454single nucleotide variantNM_030780.5(SLC25A32):c.62T>G (p.Val21Gly)not specified [RCV004362035]uncertain significance8103414876103414876Humanname
402489901CV2867062single nucleotide variantNM_030780.5(SLC25A32):c.933A>G (p.Arg311=)not provided [RCV003544847]likely benign8103400426103400426Humanname
405226477CV2892486single nucleotide variantNM_030780.5(SLC25A32):c.645T>C (p.Asn215=)not provided [RCV003554751]likely benign8103401962103401962Humanname
402471675CV2936247single nucleotide variantNM_030780.5(SLC25A32):c.97G>C (p.Gly33Arg)not provided [RCV003662857]uncertain significance8103414841103414841Humanname
402471722CV2937080single nucleotide variantNM_030780.5(SLC25A32):c.28G>A (p.Gly10Arg)not provided [RCV003663576]uncertain significance8103414910103414910Humanname
405063690CV2939810single nucleotide variantNM_030780.5(SLC25A32):c.375C>T (p.Val125=)not provided [RCV003658967]likely benign8103404792103404792Humanname
402474677CV2981783single nucleotide variantNM_030780.5(SLC25A32):c.88G>T (p.Val30Leu)not provided [RCV003711899]uncertain significance8103414850103414850Humanname
402474039CV3028768insertionNM_030780.5(SLC25A32):c.154+11_154+12insGGnot provided [RCV003702163]likely benign8103414772103414773Humanname
405152055CV3031474single nucleotide variantNM_030780.5(SLC25A32):c.420A>G (p.Pro140=)not provided [RCV003703361]likely benign8103403296103403296Humanname
405251982CV3046352single nucleotide variantNM_030780.5(SLC25A32):c.717C>T (p.Val239=)not provided [RCV003722050]uncertain significance8103401611103401611Humanname
405141880CV3125935single nucleotide variantNM_030780.5(SLC25A32):c.912A>G (p.Ser304=)not provided [RCV003816851]likely benign8103400447103400447Humanname
405219813CV3157669single nucleotide variantNM_030780.5(SLC25A32):c.402C>G (p.Thr134=)not provided [RCV003863361]likely benign8103403314103403314Humanname
597899189CV3740910single nucleotide variantNM_030780.5(SLC25A32):c.513G>C (p.Val171=)not provided [RCV005072073]likely benign8103403203103403203Humanname
597880122CV3744759single nucleotide variantNM_030780.5(SLC25A32):c.633C>T (p.Asn211=)not provided [RCV005069784]likely benign8103401974103401974Humanname
597916734CV3811052single nucleotide variantNM_030780.5(SLC25A32):c.513G>A (p.Val171=)not provided [RCV005155087]likely benign8103403203103403203Humanname
597957412CV3838478single nucleotide variantNM_030780.5(SLC25A32):c.567G>C (p.Gly189=)not provided [RCV005191853]likely benign8103402040103402040Humanname
597887845CV3859394single nucleotide variantNM_030780.5(SLC25A32):c.906C>T (p.Asn302=)not provided [RCV005200050]likely benign8103400453103400453Humanname
150515314CV1227516insertionNM_030780.5(SLC25A32):c.812+208_812+209insGnot provided [RCV001638789]benign8103401307103401308Humanname
150491650CV1251224insertionNM_030780.5(SLC25A32):c.391+170_391+171insGnot provided [RCV001674892]benign8103404605103404606Humanname
156305151CV1916394single nucleotide variantNM_030780.5(SLC25A32):c.115G>T (p.Ala39Ser)not provided [RCV002599364]likely benign8103414823103414823Humanname
156228943CV1938347single nucleotide variantNM_030780.5(SLC25A32):c.116C>T (p.Ala39Val)not provided [RCV003111689]|not specified [RCV004134119]uncertain significance8103414822103414822Humanname
156090597CV1963135single nucleotide variantNM_030780.5(SLC25A32):c.187A>T (p.Asn63Tyr)not provided [RCV002570209]|not specified [RCV004064374]uncertain significance8103407752103407752Humanname
156328547CV1969779single nucleotide variantNM_030780.5(SLC25A32):c.236G>A (p.Arg79Gln)not provided [RCV002600662]|not specified [RCV005281188]uncertain significance8103407703103407703Humanname
156210545CV2000940single nucleotide variantNM_030780.5(SLC25A32):c.272G>A (p.Gly91Asp)not provided [RCV002666828]uncertain significance8103407667103407667Humanname
156218727CV2047775single nucleotide variantNM_030780.5(SLC25A32):c.211A>G (p.Thr71Ala)not provided [RCV002790548]uncertain significance8103407728103407728Humanname
155910145CV2303533single nucleotide variantNM_030780.5(SLC25A32):c.209C>T (p.Thr70Ile)not specified [RCV004161630]uncertain significance8103407730103407730Humanname
156294350CV2306405single nucleotide variantNM_030780.5(SLC25A32):c.290G>A (p.Gly97Glu)not specified [RCV004156753]uncertain significance8103407649103407649Humanname
156269404CV2398575single nucleotide variantNM_030780.5(SLC25A32):c.103T>G (p.Leu35Val)not provided [RCV005060921]|not specified [RCV004237888]uncertain significance8103414835103414835Humanname
401892064CV2777202single nucleotide variantNM_030780.5(SLC25A32):c.236G>C (p.Arg79Pro)not specified [RCV004354237]uncertain significance8103407703103407703Humanname
402511888CV2914240single nucleotide variantNM_030780.5(SLC25A32):c.148T>C (p.Phe50Leu)not provided [RCV003571611]uncertain significance8103414790103414790Humanname
405138882CV3125439single nucleotide variantNM_030780.5(SLC25A32):c.187A>G (p.Asn63Asp)not provided [RCV003816546]uncertain significance8103407752103407752Humanname
404985334CV3183761single nucleotide variantNM_030780.5(SLC25A32):c.235C>T (p.Arg79Trp)not provided [RCV003881038]|not specified [RCV004369674]uncertain significance8103407704103407704Humanname
597754881CV3606344single nucleotide variantNM_030780.5(SLC25A32):c.158G>A (p.Ser53Asn)not specified [RCV004867977]uncertain significance8103407781103407781Humanname
597843648CV3742093single nucleotide variantNM_030780.5(SLC25A32):c.150C>A (p.Phe50Leu)not provided [RCV005075725]uncertain significance8103414788103414788Humanname
597851576CV3747025single nucleotide variantNM_030780.5(SLC25A32):c.166T>A (p.Leu56Met)not provided [RCV005060653]uncertain significance8103407773103407773Humanname
597861418CV3748779single nucleotide variantNM_030780.5(SLC25A32):c.179C>T (p.Pro60Leu)not provided [RCV005067411]uncertain significance8103407760103407760Humanname
597951877CV3756539single nucleotide variantNM_030780.5(SLC25A32):c.202T>G (p.Cys68Gly)not provided [RCV005079596]uncertain significance8103407737103407737Humanname
597847681CV3776168single nucleotide variantNM_030780.5(SLC25A32):c.105A>C (p.Leu35Phe)not provided [RCV005123696]uncertain significance8103414833103414833Humanname
597928767CV3779809deletionNM_030780.5(SLC25A32):c.650del (p.Leu217fs)not provided [RCV005116338]uncertain significance8103401957103401957Humanname
597851914CV3809339single nucleotide variantNM_030780.5(SLC25A32):c.107C>G (p.Ser36Cys)not provided [RCV005162063]uncertain significance8103414831103414831Humanname
597850837CV3809757single nucleotide variantNM_030780.5(SLC25A32):c.121C>G (p.His41Asp)not provided [RCV005151477]uncertain significance8103414817103414817Humanname
150495601CV1272672single nucleotide variantNM_030780.5(SLC25A32):c.350G>A (p.Arg117His)not provided [RCV001688595]benign8103404817103404817Humanname
151889928CV1350379single nucleotide variantNM_030780.5(SLC25A32):c.331A>G (p.Thr111Ala)not provided [RCV002038700]uncertain significance8103404836103404836Humanname
151785320CV1374736single nucleotide variantNM_030780.5(SLC25A32):c.682A>G (p.Ile228Val)not provided [RCV001875754]uncertain significance8103401646103401646Humanname
151729150CV1410090single nucleotide variantNM_030780.5(SLC25A32):c.538C>T (p.Arg180Cys)not provided [RCV001910684]uncertain significance8103403178103403178Humanname
151782290CV1422260single nucleotide variantNM_030780.5(SLC25A32):c.397A>G (p.Met133Val)not provided [RCV001972191]uncertain significance8103403319103403319Humanname
151795387CV1434453single nucleotide variantNM_030780.5(SLC25A32):c.349C>T (p.Arg117Cys)not provided [RCV001866634]|not specified [RCV004867740]uncertain significance8103404818103404818Humanname
151764527CV1499569single nucleotide variantNM_030780.5(SLC25A32):c.481C>T (p.Arg161Ter)not provided [RCV001863478]uncertain significance8103403235103403235Humanname
152117864CV1643938single nucleotide variantNM_030780.5(SLC25A32):c.742G>A (p.Val248Ile)not provided [RCV002135330]likely benign8103401586103401586Humanname
152059896CV1648480single nucleotide variantNM_030780.5(SLC25A32):c.826G>A (p.Gly276Ser)SLC25A32-related disorder [RCV003911193]|not provided [RCV002090126]benign|likely benign8103400533103400533Human1name , trait , alternate_id
156390564CV1872661single nucleotide variantNM_030780.5(SLC25A32):c.718G>A (p.Ala240Thr)not provided [RCV003051266]uncertain significance8103401610103401610Humanname
156440663CV1943724single nucleotide variantNM_030780.5(SLC25A32):c.573T>G (p.Phe191Leu)not provided [RCV003110700]|not specified [RCV004857958]uncertain significance8103402034103402034Humanname
156265010CV1960824single nucleotide variantNM_030780.5(SLC25A32):c.581C>T (p.Ser194Leu)not provided [RCV002576975]uncertain significance8103402026103402026Humanname
156153410CV1961237single nucleotide variantNM_030780.5(SLC25A32):c.914A>G (p.His305Arg)not provided [RCV002572973]uncertain significance8103400445103400445Humanname
156417351CV1970347single nucleotide variantNM_030780.5(SLC25A32):c.554G>A (p.Gly185Glu)not provided [RCV002590145]uncertain significance8103402053103402053Humanname
156375185CV2003992single nucleotide variantNM_030780.5(SLC25A32):c.442C>G (p.Leu148Val)not provided [RCV002653237]|not specified [RCV004066674]uncertain significance8103403274103403274Humanname
156273229CV2004260single nucleotide variantNM_030780.5(SLC25A32):c.715G>A (p.Val239Ile)not provided [RCV002646601]uncertain significance8103401613103401613Humanname
156349582CV2008574single nucleotide variantNM_030780.5(SLC25A32):c.325T>C (p.Tyr109His)not provided [RCV002720084]uncertain significance8103404842103404842Humanname
156063677CV2018266single nucleotide variantNM_030780.5(SLC25A32):c.578C>T (p.Thr193Ile)not provided [RCV002705465]uncertain significance8103402029103402029Humanname
156230159CV2019682single nucleotide variantNM_030780.5(SLC25A32):c.859A>T (p.Ile287Phe)not provided [RCV002701329]|not specified [RCV004067651]uncertain significance8103400500103400500Humanname
155951713CV2046797single nucleotide variantNM_030780.5(SLC25A32):c.802A>G (p.Lys268Glu)not provided [RCV002775809]uncertain significance8103401526103401526Humanname
156112904CV2058336single nucleotide variantNM_030780.5(SLC25A32):c.445A>C (p.Met149Leu)not provided [RCV002824993]uncertain significance8103403271103403271Humanname
156350488CV2069530single nucleotide variantNM_030780.5(SLC25A32):c.661C>G (p.Gln221Glu)not provided [RCV002811749]uncertain significance8103401946103401946Humanname
156066456CV2092855single nucleotide variantNM_030780.5(SLC25A32):c.488A>G (p.Tyr163Cys)not provided [RCV002886675]|not specified [RCV004066188]uncertain significance8103403228103403228Humanname
156005779CV2099731single nucleotide variantNM_030780.5(SLC25A32):c.539G>A (p.Arg180His)not provided [RCV002908850]|not specified [RCV004066163]uncertain significance8103403177103403177Humanname
156003013CV2119116single nucleotide variantNM_030780.5(SLC25A32):c.859A>G (p.Ile287Val)not provided [RCV002975274]|not specified [RCV004068191]uncertain significance8103400500103400500Humanname
156383140CV2128198single nucleotide variantNM_030780.5(SLC25A32):c.709T>C (p.Phe237Leu)SLC25A32-related disorder [RCV004758243]|not provided [RCV002943296]|not specified [RCV004068008]uncertain significance8103401619103401619Human1name , trait , alternate_id
156162517CV2135501single nucleotide variantNM_030780.5(SLC25A32):c.445A>G (p.Met149Val)not provided [RCV002983058]uncertain significance8103403271103403271Humanname
156164627CV2137047single nucleotide variantNM_030780.5(SLC25A32):c.823G>A (p.Val275Ile)not provided [RCV003005194]uncertain significance8103400536103400536Humanname
156018866CV2151629single nucleotide variantNM_030780.5(SLC25A32):c.343G>A (p.Ala115Thr)not provided [RCV003018130]uncertain significance8103404824103404824Humanname
10768687CV221015single nucleotide variantNM_030780.5(SLC25A32):c.548A>G (p.Tyr183Cys)Prostate cancer [RCV000206814]|not provided [RCV002517368]uncertain significance8103403168103403168Human2name
11049633CV224832single nucleotide variantNM_030780.5(SLC25A32):c.425G>A (p.Trp142Ter)Exercise intolerance, riboflavin-responsive [RCV000208744]|not provided [RCV002517412]|not specified [RCV005237727]pathogenic|uncertain significance8103403291103403291Human1name
11049599CV224833single nucleotide variantNM_030780.5(SLC25A32):c.440G>A (p.Arg147His)Exercise intolerance, riboflavin-responsive [RCV000208727]|not provided [RCV002515562]|not specified [RCV003488464]pathogenic|likely pathogenic|uncertain significance8103403276103403276Human1name
156346310CV2382729single nucleotide variantNM_030780.5(SLC25A32):c.659C>T (p.Ala220Val)not specified [RCV004224079]uncertain significance8103401948103401948Humanname
329391843CV2448801single nucleotide variantNM_030780.5(SLC25A32):c.698T>C (p.Leu233Pro)not provided [RCV003561225]|not specified [RCV004261494]uncertain significance8103401630103401630Humanname
329361753CV2468273single nucleotide variantNM_030780.5(SLC25A32):c.421T>G (p.Leu141Val)not specified [RCV004275835]uncertain significance8103403295103403295Humanname
401773832CV2727647single nucleotide variantNM_030780.5(SLC25A32):c.861T>G (p.Ile287Met)not specified [RCV004329827]uncertain significance8103400498103400498Humanname
401729553CV2733151single nucleotide variantNM_030780.5(SLC25A32):c.695C>T (p.Ala232Val)not provided [RCV003777269]|not specified [RCV004332079]uncertain significance8103401633103401633Humanname
405096296CV2944125single nucleotide variantNM_030780.5(SLC25A32):c.407G>T (p.Cys136Phe)not provided [RCV003665674]uncertain significance8103403309103403309Humanname
405161747CV2950411single nucleotide variantNM_030780.5(SLC25A32):c.902A>C (p.Glu301Ala)not provided [RCV003674732]uncertain significance8103400457103400457Humanname
405148362CV2962912single nucleotide variantNM_030780.5(SLC25A32):c.653C>G (p.Pro218Arg)not provided [RCV003673820]uncertain significance8103401954103401954Humanname
405240694CV2973994single nucleotide variantNM_030780.5(SLC25A32):c.685T>C (p.Ser229Pro)not provided [RCV003684003]uncertain significance8103401643103401643Humanname
405203717CV2986171single nucleotide variantNM_030780.5(SLC25A32):c.506C>T (p.Thr169Ile)not provided [RCV003678465]uncertain significance8103403210103403210Humanname
405039267CV3067825single nucleotide variantNM_030780.5(SLC25A32):c.538C>G (p.Arg180Gly)not provided [RCV003739786]|not specified [RCV004673956]uncertain significance8103403178103403178Humanname
405199164CV3147142single nucleotide variantNM_030780.5(SLC25A32):c.501T>G (p.Phe167Leu)not provided [RCV003844302]uncertain significance8103403215103403215Humanname
405768159CV3321685single nucleotide variantNM_030780.5(SLC25A32):c.472T>G (p.Ser158Ala)not specified [RCV004456504]uncertain significance8103403244103403244Humanname
405768170CV3321687single nucleotide variantNM_030780.5(SLC25A32):c.810G>C (p.Trp270Cys)not specified [RCV004456506]uncertain significance8103401518103401518Humanname
597754895CV3606340single nucleotide variantNM_030780.5(SLC25A32):c.361A>G (p.Thr121Ala)not specified [RCV004867973]uncertain significance8103404806103404806Humanname
597754888CV3606342single nucleotide variantNM_030780.5(SLC25A32):c.751C>T (p.Arg251Cys)not specified [RCV004867975]uncertain significance8103401577103401577Humanname
597754885CV3606343single nucleotide variantNM_030780.5(SLC25A32):c.403C>G (p.Leu135Val)not provided [RCV005061576]|not specified [RCV004867976]uncertain significance8103403313103403313Humanname
597843661CV3752533single nucleotide variantNM_030780.5(SLC25A32):c.337G>A (p.Gly113Arg)not provided [RCV005086939]uncertain significance8103404830103404830Humanname
597951170CV3756404single nucleotide variantNM_030780.5(SLC25A32):c.688G>C (p.Val230Leu)not provided [RCV005079461]uncertain significance8103401640103401640Humanname
597925026CV3772618single nucleotide variantNM_030780.5(SLC25A32):c.895G>T (p.Val299Leu)not provided [RCV005115768]uncertain significance8103400464103400464Humanname
597881433CV3783752single nucleotide variantNM_030780.5(SLC25A32):c.460G>A (p.Ala154Thr)not provided [RCV005124248]uncertain significance8103403256103403256Humanname
597963196CV3791881single nucleotide variantNM_030780.5(SLC25A32):c.385G>A (p.Glu129Lys)not provided [RCV005139437]uncertain significance8103404782103404782Humanname
597971858CV3798936single nucleotide variantNM_030780.5(SLC25A32):c.787A>G (p.Ile263Val)not provided [RCV005142348]uncertain significance8103401541103401541Humanname
597835126CV3828123single nucleotide variantNM_030780.5(SLC25A32):c.677A>G (p.Glu226Gly)not provided [RCV005171015]uncertain significance8103401651103401651Humanname
598168868CV3918224single nucleotide variantNM_030780.5(SLC25A32):c.455A>G (p.Tyr152Cys)not specified [RCV005284169]uncertain significance8103403261103403261Humanname
598168874CV3918225single nucleotide variantNM_030780.5(SLC25A32):c.673G>A (p.Val225Ile)not specified [RCV005284170]uncertain significance8103401655103401655Humanname
15183834CV700330single nucleotide variantNM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys)Exercise intolerance, riboflavin-responsive [RCV002489310]|SLC25A32-related disorder [RCV003978234]|not provided [RCV000952557]benign|likely benign8103400460103400460Human2name , trait , alternate_id
15183834CV700330single nucleotide variantNM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys)Exercise intolerance, riboflavin-responsive [RCV002489310]|SLC25A32-related disorder [RCV003978234]|not provided [RCV000952557]benign|likely benign8103400460103400461Human2name , trait , alternate_id
405200460CV2918483duplicationNM_030780.5(SLC25A32):c.798_808dup (p.Trp270fs)not provided [RCV003565891]uncertain significance8103401519103401520Humanname
597975516CV3799190deletionNM_030780.5(SLC25A32):c.769_770del (p.Met257fs)not provided [RCV005144586]uncertain significance8103401558103401559Humanname
597898279CV3806930deletionNM_030780.5(SLC25A32):c.333_336del (p.Gly113fs)not provided [RCV005152317]uncertain significance8103404831103404834Humanname
156187814CV2052145deletionNM_030780.5(SLC25A32):c.828_830del (p.Gly277del)not provided [RCV002828513]uncertain significance8103400529103400531Humanname
597854198CV3847806deletionNM_030780.5(SLC25A32):c.-8_10del (p.Met1_Gln4del)not provided [RCV005188534]uncertain significance8103414928103414945Humanname
156405352CV1913057microsatelliteNM_030780.5(SLC25A32):c.7GGCCAG[3] (p.Gln6_Ser7insGlyGln)not provided [RCV002606309]uncertain significance8103414919103414920Humanname