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


54 records found for search term Edem2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401717980CV2718154single nucleotide variantNM_018217.3(EDEM2):c.11G>T (p.Arg4Leu)not specified [RCV004315860]uncertain significance203514724835147248Humanname
401751975CV2672639single nucleotide variantNM_018217.3(EDEM2):c.73C>G (p.Pro25Ala)not specified [RCV004287663]uncertain significance203514718635147186Humanname
401772751CV2719747single nucleotide variantNM_018217.3(EDEM2):c.38G>T (p.Cys13Phe)not specified [RCV004329183]uncertain significance203514722135147221Humanname
405767414CV3248241single nucleotide variantNM_018217.3(EDEM2):c.92A>T (p.Asp31Val)not specified [RCV004384534]uncertain significance203514716735147167Humanname
598165966CV3954091single nucleotide variantNM_018217.3(EDEM2):c.78C>A (p.Asp26Glu)not specified [RCV005329790]uncertain significance203514718135147181Humanname
156073614CV2299240single nucleotide variantNM_018217.3(EDEM2):c.260T>C (p.Ile87Thr)not specified [RCV004152571]uncertain significance203514247735142477Humanname
401880386CV2780064single nucleotide variantNM_018217.3(EDEM2):c.241G>A (p.Ala81Thr)not specified [RCV004355728]uncertain significance203514499635144996Humanname
598165973CV3954092single nucleotide variantNM_018217.3(EDEM2):c.172G>C (p.Asp58His)not specified [RCV005329791]uncertain significance203514687135146871Humanname
15202902CV757481single nucleotide variantNM_018217.3(EDEM2):c.1272C>T (p.Arg424=)not provided [RCV000913605]benign203511589835115898Humanname
156003193CV2258037single nucleotide variantNM_018217.3(EDEM2):c.635C>T (p.Pro212Leu)not specified [RCV004129834]uncertain significance203513480535134805Humanname
155988541CV2259580single nucleotide variantNM_018217.3(EDEM2):c.341C>G (p.Ser114Cys)not specified [RCV004116627]uncertain significance203514239635142396Humanname
155968997CV2339373single nucleotide variantNM_018217.3(EDEM2):c.656G>C (p.Arg219Thr)not specified [RCV004191596]uncertain significance203513478435134784Humanname
156163834CV2376189single nucleotide variantNM_018217.3(EDEM2):c.978T>G (p.Ile326Met)not specified [RCV004220415]uncertain significance203512402635124026Humanname
329369075CV2424641single nucleotide variantNM_018217.3(EDEM2):c.316G>A (p.Asp106Asn)not specified [RCV004254514]uncertain significance203514242135142421Humanname
329368410CV2428009single nucleotide variantNM_018217.3(EDEM2):c.670C>T (p.Arg224Cys)not specified [RCV004254388]uncertain significance203513477035134770Humanname
401731270CV2693700single nucleotide variantNM_018217.3(EDEM2):c.550C>A (p.Pro184Thr)not specified [RCV004298029]uncertain significance203513489035134890Humanname
401762972CV2707402single nucleotide variantNM_018217.3(EDEM2):c.511A>G (p.Met171Val)not specified [RCV004312790]uncertain significance203513492935134929Humanname
401872119CV2754272single nucleotide variantNM_018217.3(EDEM2):c.829A>T (p.Met277Leu)not specified [RCV004334453]uncertain significance203513165735131657Humanname
405767409CV3248240single nucleotide variantNM_018217.3(EDEM2):c.917C>T (p.Thr306Ile)not specified [RCV004384533]uncertain significance203512630335126303Humanname
405767421CV3248242single nucleotide variantNM_018217.3(EDEM2):c.977T>C (p.Ile326Thr)not specified [RCV004384535]uncertain significance203512402735124027Humanname
407478542CV3441567single nucleotide variantNM_018217.3(EDEM2):c.696C>G (p.Ile232Met)not specified [RCV004617614]uncertain significance203513474435134744Humanname
407478547CV3441568single nucleotide variantNM_018217.3(EDEM2):c.671G>A (p.Arg224His)not specified [RCV004617615]uncertain significance203513476935134769Humanname
407478552CV3441569single nucleotide variantNM_018217.3(EDEM2):c.686G>A (p.Arg229Gln)not specified [RCV004617616]uncertain significance203513475435134754Humanname
597644309CV3667467single nucleotide variantNM_018217.3(EDEM2):c.419T>G (p.Val140Gly)not specified [RCV004909650]uncertain significance203513795135137951Humanname
597644316CV3667468single nucleotide variantNM_018217.3(EDEM2):c.440C>T (p.Ser147Phe)not specified [RCV004909651]uncertain significance203513793035137930Humanname
598165954CV3954089single nucleotide variantNM_018217.3(EDEM2):c.585T>G (p.Ile195Met)not specified [RCV005329788]uncertain significance203513485535134855Humanname
598165961CV3954090single nucleotide variantNM_018217.3(EDEM2):c.831G>A (p.Met277Ile)not specified [RCV005329789]uncertain significance203513165535131655Humanname
156176525CV2205329single nucleotide variantNM_018217.3(EDEM2):c.1382A>G (p.Tyr461Cys)not specified [RCV004079944]uncertain significance203511578835115788Humanname
156302043CV2258597single nucleotide variantNM_018217.3(EDEM2):c.1091G>A (p.Arg364Gln)not specified [RCV004116071]uncertain significance203512391335123913Humanname
156090954CV2302617single nucleotide variantNM_018217.3(EDEM2):c.1450G>A (p.Ala484Thr)not specified [RCV004160779]uncertain significance203511572035115720Humanname
156158671CV2322673single nucleotide variantNM_018217.3(EDEM2):c.1592C>T (p.Pro531Leu)not specified [RCV004182802]uncertain significance203511557835115578Humanname
156236145CV2346417single nucleotide variantNM_018217.3(EDEM2):c.1585G>A (p.Ala529Thr)not specified [RCV004203895]likely benign203511558535115585Humanname
156236163CV2346418single nucleotide variantNM_018217.3(EDEM2):c.1586C>A (p.Ala529Glu)not specified [RCV004203896]uncertain significance203511558435115584Humanname
401739743CV2683155single nucleotide variantNM_018217.3(EDEM2):c.1121T>C (p.Ile374Thr)not specified [RCV004286153]uncertain significance203511871335118713Humanname
401745054CV2698455single nucleotide variantNM_018217.3(EDEM2):c.1163C>T (p.Thr388Ile)not specified [RCV004298966]uncertain significance203511867135118671Humanname
401718767CV2704797single nucleotide variantNM_018217.3(EDEM2):c.1326C>G (p.Asp442Glu)not specified [RCV004307390]uncertain significance203511584435115844Humanname
401884514CV2759357single nucleotide variantNM_018217.3(EDEM2):c.1519T>A (p.Ser507Thr)not specified [RCV004335939]uncertain significance203511565135115651Humanname
401877511CV2761160single nucleotide variantNM_018217.3(EDEM2):c.1270C>T (p.Arg424Cys)not specified [RCV004341045]uncertain significance203511590035115900Humanname
401896171CV2773749single nucleotide variantNM_018217.3(EDEM2):c.1519T>G (p.Ser507Ala)not specified [RCV004356419]uncertain significance203511565135115651Humanname
401880416CV2783202single nucleotide variantNM_018217.3(EDEM2):c.1027T>C (p.Trp343Arg)not specified [RCV004363542]uncertain significance203512397735123977Humanname
405767384CV3248236single nucleotide variantNM_018217.3(EDEM2):c.1084G>C (p.Glu362Gln)not specified [RCV004384529]uncertain significance203512392035123920Humanname
405767390CV3248237single nucleotide variantNM_018217.3(EDEM2):c.1145G>A (p.Arg382His)not specified [RCV004384530]uncertain significance203511868935118689Humanname
405767396CV3248238single nucleotide variantNM_018217.3(EDEM2):c.1421A>G (p.Asn474Ser)not specified [RCV004384531]uncertain significance203511574935115749Humanname
407478558CV3441570single nucleotide variantNM_018217.3(EDEM2):c.1415T>C (p.Ile472Thr)not specified [RCV004617617]uncertain significance203511575535115755Humanname
407478562CV3441572single nucleotide variantNM_018217.3(EDEM2):c.1637G>A (p.Arg546Lys)not specified [RCV004617619]likely benign203511553335115533Humanname
407478568CV3441573single nucleotide variantNM_018217.3(EDEM2):c.1536G>T (p.Arg512Ser)not specified [RCV004617620]uncertain significance203511563435115634Humanname
597644282CV3667462single nucleotide variantNM_018217.3(EDEM2):c.1066C>G (p.Pro356Ala)not specified [RCV004909646]uncertain significance203512393835123938Humanname
597736112CV3667463single nucleotide variantNM_018217.3(EDEM2):c.1663C>T (p.Leu555Phe)not specified [RCV004920584]uncertain significance203511550735115507Humanname
597644297CV3667465single nucleotide variantNM_018217.3(EDEM2):c.1591C>T (p.Pro531Ser)not specified [RCV004909648]uncertain significance203511557935115579Humanname
597644303CV3667466single nucleotide variantNM_018217.3(EDEM2):c.1133T>C (p.Met378Thr)not specified [RCV004909649]uncertain significance203511870135118701Humanname
597644324CV3667469single nucleotide variantNM_018217.3(EDEM2):c.1391G>A (p.Cys464Tyr)not specified [RCV004909652]uncertain significance203511577935115779Humanname
597644331CV3667470single nucleotide variantNM_018217.3(EDEM2):c.1042G>C (p.Gly348Arg)not specified [RCV004909653]uncertain significance203512396235123962Humanname
598165948CV3954088single nucleotide variantNM_018217.3(EDEM2):c.1506G>A (p.Met502Ile)not specified [RCV005329787]uncertain significance203511566435115664Humanname
21404593CV800974single nucleotide variantNM_018217.3(EDEM2):c.1271G>A (p.Arg424His)Maturity onset diabetes mellitus in young [RCV001003517]uncertain significance203511589935115899Human1name