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Variants search result for All species
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85 records found for search term Eml2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401937316CV2808916single nucleotide variantNM_012155.4(EML2):c.336C>A (p.Ala112=)not provided [RCV003415325]likely benign194563313345633133Humanname
405755045CV3248864single nucleotide variantNM_012155.4(EML2):c.95T>G (p.Met32Arg)not specified [RCV004382551]uncertain significance194563858945638589Humanname
405755056CV3248865single nucleotide variantNM_012155.4(EML2):c.99G>A (p.Met33Ile)not specified [RCV004382552]uncertain significance194563858545638585Humanname
401752026CV2682675single nucleotide variantNM_012155.4(EML2):c.235G>A (p.Glu79Lys)not specified [RCV004281657]uncertain significance194563441645634416Humanname
401910598CV2808915single nucleotide variantNM_012155.4(EML2):c.1632G>A (p.Ala544=)not provided [RCV003425266]likely benign194561466645614666Humanname
405755063CV3248866single nucleotide variantNM_012155.4(EML2):c.160C>G (p.Arg54Gly)not specified [RCV004382553]uncertain significance194563852445638524Humanname
405755070CV3248867single nucleotide variantNM_012155.4(EML2):c.199G>C (p.Asp67His)not specified [RCV004382554]uncertain significance194563445245634452Humanname
405755077CV3248868single nucleotide variantNM_012155.4(EML2):c.254C>T (p.Ala85Val)not specified [RCV004382555]uncertain significance194563439745634397Humanname
405755084CV3248869single nucleotide variantNM_012155.4(EML2):c.292C>G (p.Gln98Glu)not specified [RCV004382556]uncertain significance194563435945634359Humanname
407506983CV3434951single nucleotide variantNM_012155.4(EML2):c.190C>T (p.Arg64Cys)not specified [RCV004624926]uncertain significance194563446145634461Humanname
407506990CV3434954single nucleotide variantNM_012155.4(EML2):c.277G>A (p.Val93Met)not specified [RCV004624929]uncertain significance194563437445634374Humanname
597685085CV3667770single nucleotide variantNM_012155.4(EML2):c.191G>A (p.Arg64His)not specified [RCV004914722]uncertain significance194563446045634460Humanname
597747170CV3667771single nucleotide variantNM_012155.4(EML2):c.259G>A (p.Val87Ile)not specified [RCV004922848]uncertain significance194563439245634392Humanname
597685094CV3667773single nucleotide variantNM_012155.4(EML2):c.274A>G (p.Ser92Gly)not specified [RCV004914723]uncertain significance194563437745634377Humanname
156091837CV2216687single nucleotide variantNM_012155.4(EML2):c.965G>T (p.Gly322Val)not specified [RCV004083140]uncertain significance194562151445621514Humanname
155935718CV2221804single nucleotide variantNM_012155.4(EML2):c.433G>A (p.Val145Ile)not specified [RCV004102836]uncertain significance194563293845632938Humanname
156243989CV2243018single nucleotide variantNM_012155.4(EML2):c.600T>A (p.Asp200Glu)not specified [RCV004109938]uncertain significance194562995745629957Humanname
156218883CV2253992single nucleotide variantNM_012155.4(EML2):c.710G>A (p.Gly237Asp)not specified [RCV004127660]uncertain significance194562673645626736Humanname
156267594CV2275563single nucleotide variantNM_012155.4(EML2):c.362C>T (p.Ala121Val)not specified [RCV004137205]uncertain significance194563310745633107Humanname
156005302CV2281500single nucleotide variantNM_012155.4(EML2):c.919A>G (p.Thr307Ala)not specified [RCV004153816]uncertain significance194562156045621560Humanname
156124484CV2285761single nucleotide variantNM_012155.4(EML2):c.747T>G (p.His249Gln)not specified [RCV004141898]uncertain significance194562481345624813Humanname
156264377CV2312077single nucleotide variantNM_012155.4(EML2):c.863C>T (p.Ala288Val)not specified [RCV004165001]uncertain significance194562161645621616Humanname
156149112CV2321884single nucleotide variantNM_012155.4(EML2):c.950G>A (p.Arg317Gln)not specified [RCV004173357]uncertain significance194562152945621529Humanname
156086922CV2336827single nucleotide variantNM_012155.4(EML2):c.466G>A (p.Gly156Arg)not specified [RCV004190448]uncertain significance194563290545632905Humanname
329358062CV2427930single nucleotide variantNM_012155.4(EML2):c.904G>A (p.Ala302Thr)not specified [RCV004254318]uncertain significance194562157545621575Humanname
401739774CV2683164single nucleotide variantNM_012155.4(EML2):c.889G>A (p.Val297Met)not specified [RCV004286161]uncertain significance194562159045621590Humanname
401772812CV2697992single nucleotide variantNM_012155.4(EML2):c.725G>A (p.Arg242Gln)not specified [RCV004302803]uncertain significance194562672145626721Humanname
401879150CV2764851single nucleotide variantNM_012155.4(EML2):c.911G>A (p.Arg304Gln)not specified [RCV004334946]uncertain significance194562156845621568Humanname
401888847CV2764982single nucleotide variantNM_012155.4(EML2):c.856A>C (p.Thr286Pro)not specified [RCV004337107]uncertain significance194562162345621623Humanname
405754987CV3248855single nucleotide variantNM_012155.4(EML2):c.614A>G (p.Asn205Ser)not specified [RCV004382542]uncertain significance194562683245626832Humanname
405754993CV3248856single nucleotide variantNM_012155.4(EML2):c.880G>C (p.Asp294His)not specified [RCV004382543]uncertain significance194562159945621599Humanname
405754999CV3248857single nucleotide variantNM_012155.4(EML2):c.964G>C (p.Gly322Arg)not specified [RCV004382544]uncertain significance194562151545621515Humanname
407506985CV3434952single nucleotide variantNM_012155.4(EML2):c.557T>G (p.Met186Arg)not specified [RCV004624927]uncertain significance194563000045630000Humanname
407506987CV3434953single nucleotide variantNM_012155.4(EML2):c.940C>T (p.Arg314Cys)not specified [RCV004624928]uncertain significance194562153945621539Humanname
407506992CV3434955single nucleotide variantNM_012155.4(EML2):c.946C>T (p.Arg316Trp)not specified [RCV004624930]uncertain significance194562153345621533Humanname
407506995CV3434956single nucleotide variantNM_012155.4(EML2):c.793G>A (p.Asp265Asn)not specified [RCV004624931]uncertain significance194562476745624767Humanname
407507004CV3434960single nucleotide variantNM_012155.4(EML2):c.310C>A (p.His104Asn)not specified [RCV004624935]uncertain significance194563434145634341Humanname
597747160CV3667767single nucleotide variantNM_012155.4(EML2):c.866T>C (p.Val289Ala)not specified [RCV004922846]uncertain significance194562161345621613Humanname
597685714CV3667775single nucleotide variantNM_012155.4(EML2):c.573C>A (p.Asp191Glu)not specified [RCV004914725]uncertain significance194562998445629984Humanname
598192384CV3957972single nucleotide variantNM_012155.4(EML2):c.623T>C (p.Val208Ala)not specified [RCV005334991]uncertain significance194562682345626823Humanname
598192390CV3957973single nucleotide variantNM_012155.4(EML2):c.652C>G (p.Pro218Ala)not specified [RCV005334992]uncertain significance194562679445626794Humanname
598192397CV3957974single nucleotide variantNM_012155.4(EML2):c.619G>T (p.Ala207Ser)not specified [RCV005334993]uncertain significance194562682745626827Humanname
598192426CV3957978single nucleotide variantNM_012155.4(EML2):c.558G>A (p.Met186Ile)not specified [RCV005334997]uncertain significance194562999945629999Humanname
598192440CV3957980single nucleotide variantNM_012155.4(EML2):c.902G>C (p.Cys301Ser)not specified [RCV005334999]uncertain significance194562157745621577Humanname
598192455CV3957982single nucleotide variantNM_012155.4(EML2):c.646A>G (p.Thr216Ala)not specified [RCV005335001]uncertain significance194562680045626800Humanname
598192467CV3957984single nucleotide variantNM_012155.4(EML2):c.949C>T (p.Arg317Trp)not specified [RCV005335003]uncertain significance194562153045621530Humanname
598192479CV3957986single nucleotide variantNM_012155.4(EML2):c.997G>C (p.Val333Leu)not specified [RCV005335005]uncertain significance194562133245621332Humanname
155991037CV2255610single nucleotide variantNM_012155.4(EML2):c.1412A>C (p.Asp471Ala)not specified [RCV004120025]uncertain significance194561655845616558Humanname
156334351CV2263249single nucleotide variantNM_012155.4(EML2):c.1137G>T (p.Glu379Asp)not specified [RCV004131748]uncertain significance194561917745619177Humanname
156069137CV2295711single nucleotide variantNM_012155.4(EML2):c.1747C>T (p.His583Tyr)not specified [RCV004149859]uncertain significance194561361845613618Humanname
156204425CV2297789single nucleotide variantNM_012155.4(EML2):c.1601A>T (p.Asp534Val)not specified [RCV004157743]uncertain significance194561469745614697Humanname
156053860CV2308609single nucleotide variantNM_012155.4(EML2):c.1057G>A (p.Val353Met)not specified [RCV004167167]uncertain significance194562127245621272Humanname
156295730CV2310331single nucleotide variantNM_012155.4(EML2):c.1826C>A (p.Ala609Asp)not specified [RCV004163382]uncertain significance194560978745609787Humanname
156070868CV2318929single nucleotide variantNM_012155.4(EML2):c.1047C>A (p.Asp349Glu)not specified [RCV004175820]uncertain significance194562128245621282Humanname
156067811CV2320300single nucleotide variantNM_012155.4(EML2):c.1051C>G (p.Leu351Val)not specified [RCV004178465]uncertain significance194562127845621278Humanname
156340620CV2347977single nucleotide variantNM_012155.4(EML2):c.1357G>A (p.Val453Met)not specified [RCV004197664]uncertain significance194561681945616819Humanname
156155858CV2367892single nucleotide variantNM_012155.4(EML2):c.1264C>T (p.Arg422Cys)not specified [RCV004222993]uncertain significance194561768845617688Humanname
329375962CV2431681single nucleotide variantNM_012155.4(EML2):c.1273G>A (p.Gly425Ser)not specified [RCV004248849]uncertain significance194561767945617679Humanname
401782234CV2686605single nucleotide variantNM_012155.4(EML2):c.1022G>A (p.Arg341His)not specified [RCV004300028]uncertain significance194562130745621307Humanname
401743785CV2688027single nucleotide variantNM_012155.4(EML2):c.1589T>C (p.Ile530Thr)not specified [RCV004305101]uncertain significance194561581045615810Humanname
401720937CV2702199single nucleotide variantNM_012155.4(EML2):c.1421A>G (p.Tyr474Cys)not specified [RCV004314545]uncertain significance194561654945616549Humanname
401759359CV2708618single nucleotide variantNM_012155.4(EML2):c.1818G>T (p.Gln606His)not specified [RCV004307603]uncertain significance194561354745613547Humanname
401889838CV2755037single nucleotide variantNM_012155.4(EML2):c.1679G>A (p.Gly560Glu)not specified [RCV004335194]uncertain significance194561461945614619Humanname
401869985CV2755854single nucleotide variantNM_012155.4(EML2):c.1128T>G (p.His376Gln)not specified [RCV004342222]uncertain significance194561918645619186Humanname
401875073CV2756209single nucleotide variantNM_012155.4(EML2):c.1884G>T (p.Trp628Cys)not specified [RCV004338310]uncertain significance194560972945609729Humanname
401863400CV2765658single nucleotide variantNM_012155.4(EML2):c.1151C>T (p.Ala384Val)not specified [RCV004335669]uncertain significance194561916345619163Humanname
401868461CV2781060single nucleotide variantNM_012155.4(EML2):c.1600G>T (p.Asp534Tyr)not specified [RCV004358440]uncertain significance194561469845614698Humanname
405755004CV3248858single nucleotide variantNM_012155.4(EML2):c.1021C>A (p.Arg341Ser)not specified [RCV004382545]uncertain significance194562130845621308Humanname
405755010CV3248859single nucleotide variantNM_012155.4(EML2):c.1235T>C (p.Leu412Pro)not specified [RCV004382546]uncertain significance194561907945619079Humanname
405755017CV3248860single nucleotide variantNM_012155.4(EML2):c.1475G>A (p.Gly492Asp)not specified [RCV004382547]uncertain significance194561649545616495Humanname
405755025CV3248861single nucleotide variantNM_012155.4(EML2):c.1571A>G (p.Asn524Ser)not specified [RCV004382548]uncertain significance194561582845615828Humanname
405755033CV3248862single nucleotide variantNM_012155.4(EML2):c.1887T>A (p.Asp629Glu)not specified [RCV004382549]uncertain significance194560972645609726Humanname
405755040CV3248863single nucleotide variantNM_012155.4(EML2):c.1891A>G (p.Ser631Gly)not specified [RCV004382550]uncertain significance194560972245609722Humanname
407506997CV3434957single nucleotide variantNM_012155.4(EML2):c.1636G>A (p.Ala546Thr)not specified [RCV004624932]uncertain significance194561466245614662Humanname
407507002CV3434959single nucleotide variantNM_012155.4(EML2):c.1567A>C (p.Thr523Pro)not specified [RCV004624934]uncertain significance194561583245615832Humanname
597685075CV3667768single nucleotide variantNM_012155.4(EML2):c.1823G>A (p.Arg608Gln)not specified [RCV004914721]uncertain significance194561354245613542Humanname
597747175CV3667772single nucleotide variantNM_012155.4(EML2):c.1918G>A (p.Asp640Asn)not specified [RCV004922849]uncertain significance194560969545609695Humanname
597685723CV3667774single nucleotide variantNM_012155.4(EML2):c.1742G>A (p.Arg581His)not specified [RCV004914724]uncertain significance194561362345613623Humanname
598192404CV3957975single nucleotide variantNM_012155.4(EML2):c.1904C>T (p.Thr635Ile)not specified [RCV005334994]uncertain significance194560970945609709Humanname
598192419CV3957977single nucleotide variantNM_012155.4(EML2):c.1252G>A (p.Glu418Lys)not specified [RCV005334996]uncertain significance194561906245619062Humanname
598192433CV3957979single nucleotide variantNM_012155.4(EML2):c.1245G>C (p.Arg415Ser)not specified [RCV005334998]uncertain significance194561906945619069Humanname
598192447CV3957981single nucleotide variantNM_012155.4(EML2):c.1417G>C (p.Ala473Pro)not specified [RCV005335000]uncertain significance194561655345616553Humanname
598192461CV3957983single nucleotide variantNM_012155.4(EML2):c.1910G>T (p.Gly637Val)not specified [RCV005335002]uncertain significance194560970345609703Humanname
598192474CV3957985single nucleotide variantNM_012155.4(EML2):c.1684G>C (p.Gly562Arg)not specified [RCV005335004]uncertain significance194561461445614614Humanname
155981775CV2244115single nucleotide variantNM_001193268.3(EML2):c.508G>A (p.Gly170Arg)not specified [RCV004108579]uncertain significance194564192545641925Humanname