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Variants search result for All species
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71 records found for search term Efhc2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8587464CV122092single nucleotide variantNM_025184.3(EFHC2):c.43-7626C>GLung cancer [RCV000102612]uncertain significanceX4432038244320382Humanname
8587465CV122093single nucleotide variantNM_025184.3(EFHC2):c.42+5982G>ALung cancer [RCV000102613]uncertain significanceX4433756544337565Humanname
156375019CV2204970single nucleotide variantNM_025184.4(EFHC2):c.85T>C (p.Cys29Arg)not specified [RCV004077592]uncertain significanceX4431271444312714Humanname
401926814CV2821555single nucleotide variantNM_025184.4(EFHC2):c.960C>T (p.Phe320=)not provided [RCV003438139]likely benignX4424881544248815Humanname
401926815CV2821556single nucleotide variantNM_025184.4(EFHC2):c.417G>A (p.Pro139=)not provided [RCV003438140]likely benignX4426126444261264Humanname
156100342CV2294703single nucleotide variantNM_025184.4(EFHC2):c.268C>T (p.Leu90Phe)not specified [RCV004161947]uncertain significanceX4427280044272800Humanname
401894280CV2780585single nucleotide variantNM_025184.4(EFHC2):c.131G>A (p.Gly44Asp)not specified [RCV004351955]uncertain significanceX4431266844312668Humanname
401926810CV2821552single nucleotide variantNM_025184.4(EFHC2):c.2160T>C (p.Asp720=)not provided [RCV003438136]likely benignX4414888544148885Humanname
401926811CV2821553single nucleotide variantNM_025184.4(EFHC2):c.1539G>A (p.Thr513=)not provided [RCV003438137]likely benignX4423256244232562Humanname
404990702CV2850039single nucleotide variantNM_025184.4(EFHC2):c.138A>T (p.Glu46Asp)not provided [RCV003490736]uncertain significanceX4431266144312661Humanname
597646248CV3664313single nucleotide variantNM_025184.4(EFHC2):c.196A>C (p.Ser66Arg)not specified [RCV004909878]uncertain significanceX4431260344312603Humanname
15159719CV717790single nucleotide variantNM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr)Ornithine carbamoyltransferase deficiency [RCV003327298]|not provided [RCV000969762]benign|uncertain significanceX4431262944312629Human1name
150409380CV1196365single nucleotide variantNM_025184.4(EFHC2):c.625C>T (p.Pro209Ser)not provided [RCV001572644]uncertain significanceX4425042744250427Humanname
9692908CV177312single nucleotide variantNM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)X-linked intellectual disability [RCV001258312]|not provided [RCV000153190]benign|uncertain significanceX4426127744261277Human2name
155963242CV2197820single nucleotide variantNM_025184.4(EFHC2):c.463G>A (p.Gly155Ser)not specified [RCV004077059]uncertain significanceX4426121844261218Humanname
156078498CV2300823single nucleotide variantNM_025184.4(EFHC2):c.725T>C (p.Met242Thr)not specified [RCV004158036]uncertain significanceX4425032744250327Humanname
156208004CV2308074single nucleotide variantNM_025184.4(EFHC2):c.305A>G (p.Tyr102Cys)not specified [RCV004170498]uncertain significanceX4427276344272763Humanname
156303878CV2308497single nucleotide variantNM_025184.4(EFHC2):c.632G>A (p.Arg211His)not specified [RCV004166782]uncertain significanceX4425042044250420Humanname
155974541CV2317969single nucleotide variantNM_025184.4(EFHC2):c.599G>A (p.Arg200Gln)not specified [RCV004177089]uncertain significanceX4426108244261082Humanname
156068415CV2320426single nucleotide variantNM_025184.4(EFHC2):c.574C>A (p.Pro192Thr)not specified [RCV004178576]uncertain significanceX4426110744261107Humanname
329372724CV2451621single nucleotide variantNM_025184.4(EFHC2):c.346A>G (p.Asn116Asp)not specified [RCV004274544]uncertain significanceX4427272244272722Humanname
401769516CV2689805single nucleotide variantNM_025184.4(EFHC2):c.304T>C (p.Tyr102His)not specified [RCV004297709]uncertain significanceX4427276444272764Humanname
401726191CV2695597single nucleotide variantNM_025184.4(EFHC2):c.487C>T (p.Arg163Trp)not specified [RCV004299418]uncertain significanceX4426119444261194Humanname
401855405CV2757309single nucleotide variantNM_025184.4(EFHC2):c.418C>G (p.Pro140Ala)not specified [RCV004340718]uncertain significanceX4426126344261263Humanname
401884507CV2761775single nucleotide variantNM_025184.4(EFHC2):c.949G>A (p.Gly317Ser)not specified [RCV004339426]uncertain significanceX4424882644248826Humanname
405715882CV3241650single nucleotide variantNM_025184.4(EFHC2):c.625C>G (p.Pro209Ala)not specified [RCV004377387]uncertain significanceX4425042744250427Humanname
405715888CV3241651single nucleotide variantNM_025184.4(EFHC2):c.812G>A (p.Gly271Asp)not specified [RCV004377388]uncertain significanceX4425024044250240Humanname
407497833CV3441760single nucleotide variantNM_025184.4(EFHC2):c.685A>G (p.Ile229Val)not specified [RCV004622307]likely benignX4425036744250367Humanname
597736498CV3664314single nucleotide variantNM_025184.4(EFHC2):c.619G>A (p.Val207Ile)not specified [RCV004920647]uncertain significanceX4425043344250433Humanname
597646021CV3664315single nucleotide variantNM_025184.4(EFHC2):c.955C>G (p.Leu319Val)not specified [RCV004909879]uncertain significanceX4424882044248820Humanname
597736503CV3664316single nucleotide variantNM_025184.4(EFHC2):c.674A>G (p.Tyr225Cys)not specified [RCV004920648]uncertain significanceX4425037844250378Humanname
597645869CV3664319single nucleotide variantNM_025184.4(EFHC2):c.307A>G (p.Lys103Glu)not specified [RCV004909882]uncertain significanceX4427276144272761Humanname
597645883CV3664321single nucleotide variantNM_025184.4(EFHC2):c.398G>A (p.Arg133His)not specified [RCV004909884]uncertain significanceX4426128344261283Humanname
597645889CV3664322single nucleotide variantNM_025184.4(EFHC2):c.920A>G (p.Tyr307Cys)not specified [RCV004909885]uncertain significanceX4424885544248855Humanname
598167335CV3964855single nucleotide variantNM_025184.4(EFHC2):c.401A>G (p.His134Arg)not specified [RCV005330031]uncertain significanceX4426128044261280Humanname
598167341CV3964856single nucleotide variantNM_025184.4(EFHC2):c.914A>G (p.Asn305Ser)not specified [RCV005330032]uncertain significanceX4424886144248861Humanname
598167360CV3964859single nucleotide variantNM_025184.4(EFHC2):c.403C>T (p.Arg135Trp)not specified [RCV005330035]uncertain significanceX4426127844261278Humanname
598167366CV3964860single nucleotide variantNM_025184.4(EFHC2):c.431A>G (p.Asp144Gly)not specified [RCV005330036]uncertain significanceX4426125044261250Humanname
150550433CV1308138single nucleotide variantNM_025184.4(EFHC2):c.1516G>A (p.Glu506Lys)not provided [RCV001753128]likely benignX4423258544232585Humanname
10047684CV190908single nucleotide variantNM_025184.4(EFHC2):c.1519G>C (p.Glu507Gln)not provided [RCV004713396]|not specified [RCV000173904]benignX4423258244232582Humanname
156370125CV2204120single nucleotide variantNM_025184.4(EFHC2):c.1138C>T (p.Pro380Ser)not specified [RCV004076930]uncertain significanceX4424226344242263Humanname
155989901CV2258871single nucleotide variantNM_025184.4(EFHC2):c.1565G>A (p.Arg522His)not specified [RCV004118081]uncertain significanceX4423253644232536Humanname
156285691CV2345603single nucleotide variantNM_025184.4(EFHC2):c.1574A>G (p.Asn525Ser)not specified [RCV004205556]uncertain significanceX4423252744232527Humanname
329374360CV2434789single nucleotide variantNM_025184.4(EFHC2):c.2063A>G (p.Gln688Arg)not specified [RCV004248484]uncertain significanceX4416400744164007Humanname
329352714CV2470363single nucleotide variantNM_025184.4(EFHC2):c.1235C>T (p.Pro412Leu)not specified [RCV004279746]uncertain significanceX4424216644242166Humanname
401733387CV2685511single nucleotide variantNM_025184.4(EFHC2):c.1410A>G (p.Ile470Met)not provided [RCV005412530]|not specified [RCV004294531]likely benign|uncertain significanceX4423531844235318Humanname
401733622CV2713156single nucleotide variantNM_025184.4(EFHC2):c.2226C>A (p.Asp742Glu)not specified [RCV004316704]uncertain significanceX4414881944148819Humanname
401855785CV2757438single nucleotide variantNM_025184.4(EFHC2):c.2241G>C (p.Glu747Asp)not specified [RCV004340832]uncertain significanceX4414880444148804Humanname
401926812CV2821554single nucleotide variantNM_025184.4(EFHC2):c.1408A>G (p.Ile470Val)not provided [RCV003438138]likely benignX4423532044235320Humanname
405715830CV3241642single nucleotide variantNM_025184.4(EFHC2):c.1079C>T (p.Thr360Met)not specified [RCV004377379]uncertain significanceX4424830444248304Humanname
405715836CV3241643single nucleotide variantNM_025184.4(EFHC2):c.1105G>A (p.Gly369Arg)not specified [RCV004377380]uncertain significanceX4424827844248278Humanname
405715843CV3241644single nucleotide variantNM_025184.4(EFHC2):c.1148C>T (p.Pro383Leu)not specified [RCV004377381]uncertain significanceX4424225344242253Humanname
405715850CV3241645single nucleotide variantNM_025184.4(EFHC2):c.1232A>G (p.Lys411Arg)not specified [RCV004377382]uncertain significanceX4424216944242169Humanname
405715857CV3241646single nucleotide variantNM_025184.4(EFHC2):c.1822C>T (p.Arg608Cys)not specified [RCV004377383]uncertain significanceX4417849444178494Humanname
405715861CV3241647single nucleotide variantNM_025184.4(EFHC2):c.1823G>A (p.Arg608His)not specified [RCV004377384]uncertain significanceX4417849344178493Humanname
405715867CV3241648single nucleotide variantNM_025184.4(EFHC2):c.2089G>T (p.Ala697Ser)not specified [RCV004377385]uncertain significanceX4416398144163981Humanname
405715872CV3241649single nucleotide variantNM_025184.4(EFHC2):c.2129C>T (p.Pro710Leu)not specified [RCV004377386]uncertain significanceX4416394144163941Humanname
405854728CV3394843single nucleotide variantNM_025184.4(EFHC2):c.1574A>T (p.Asn525Ile)not provided [RCV004554984]uncertain significanceX4423252744232527Humanname
407497825CV3441758single nucleotide variantNM_025184.4(EFHC2):c.1214G>A (p.Arg405His)not specified [RCV004622305]uncertain significanceX4424218744242187Humanname
407497829CV3441759single nucleotide variantNM_025184.4(EFHC2):c.1846G>A (p.Asp616Asn)not specified [RCV004622306]uncertain significanceX4417847044178470Humanname
407497837CV3441761single nucleotide variantNM_025184.4(EFHC2):c.1390A>T (p.Ile464Phe)not specified [RCV004622308]uncertain significanceX4423533844235338Humanname
597645862CV3664318single nucleotide variantNM_025184.4(EFHC2):c.1392T>G (p.Ile464Met)not specified [RCV004909881]uncertain significanceX4423533644235336Humanname
597645875CV3664320single nucleotide variantNM_025184.4(EFHC2):c.1390A>G (p.Ile464Val)not specified [RCV004909883]uncertain significanceX4423533844235338Humanname
597645897CV3664323single nucleotide variantNM_025184.4(EFHC2):c.1384G>T (p.Asp462Tyr)not specified [RCV004909886]uncertain significanceX4423534444235344Humanname
598167347CV3964857single nucleotide variantNM_025184.4(EFHC2):c.2113G>A (p.Val705Met)not specified [RCV005330033]likely benignX4416395744163957Humanname
598167353CV3964858single nucleotide variantNM_025184.4(EFHC2):c.1213C>T (p.Arg405Cys)not specified [RCV005330034]uncertain significanceX4424218844242188Humanname
598167373CV3964861single nucleotide variantNM_025184.4(EFHC2):c.1538C>T (p.Thr513Met)not specified [RCV005330037]uncertain significanceX4423256344232563Humanname
598167378CV3964862single nucleotide variantNM_025184.4(EFHC2):c.1813C>T (p.Arg605Cys)not specified [RCV005330038]uncertain significanceX4417850344178503Humanname
598167385CV3964863single nucleotide variantNM_025184.4(EFHC2):c.1440G>A (p.Met480Ile)not specified [RCV005330039]uncertain significanceX4423266144232661Humanname
598167391CV3964864single nucleotide variantNM_025184.4(EFHC2):c.1034A>G (p.Asn345Ser)not specified [RCV005330040]uncertain significanceX4424834944248349Humanname
598167397CV3964865single nucleotide variantNM_025184.4(EFHC2):c.1006A>C (p.Ser336Arg)not specified [RCV005330041]uncertain significanceX4424837744248377Humanname