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


75 records found for search term Epn1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401937449CV2818865single nucleotide variantNM_001130072.2(EPN1):c.-76G>Anot provided [RCV003415460]likely benign195567855255678552Humanname
405721902CV3249097single nucleotide variantNM_001130072.2(EPN1):c.-42C>Tnot specified [RCV004378102]uncertain significance195567858655678586Humanname
598169369CV3965410single nucleotide variantNM_001130072.2(EPN1):c.-36G>Anot specified [RCV005330418]uncertain significance195567859255678592Humanname
156315536CV2192914single nucleotide variantNM_001130072.2(EPN1):c.-101-923C>Gnot specified [RCV004069476]uncertain significance195567760455677604Humanname
156035345CV2376755single nucleotide variantNM_001130072.2(EPN1):c.-101-874C>Gnot specified [RCV004227035]uncertain significance195567765355677653Humanname
401749762CV2710965single nucleotide variantNM_001130072.2(EPN1):c.-101-942A>Gnot specified [RCV004310676]uncertain significance195567758555677585Humanname
401860003CV2765432single nucleotide variantNM_001130072.2(EPN1):c.-101-844A>Gnot specified [RCV004341751]likely benign195567768355677683Humanname
401937448CV2818864single nucleotide variantNM_001130072.2(EPN1):c.-101-923C>Tnot provided [RCV003415459]likely benign195567760455677604Humanname
405721790CV3249083single nucleotide variantNM_001130072.2(EPN1):c.-101-901G>Anot specified [RCV004378088]uncertain significance195567762655677626Humanname
405721822CV3249087single nucleotide variantNM_001130072.2(EPN1):c.-101-874C>Tnot specified [RCV004378092]uncertain significance195567765355677653Humanname
405721881CV3249094single nucleotide variantNM_001130072.2(EPN1):c.-101-834C>Tnot specified [RCV004378099]uncertain significance195567769355677693Humanname
405721895CV3249096single nucleotide variantNM_001130072.2(EPN1):c.-101-813C>Tnot specified [RCV004378101]uncertain significance195567771455677714Humanname
597803825CV3671185single nucleotide variantNM_001130072.2(EPN1):c.-101-870T>Gnot specified [RCV004907385]uncertain significance195567765755677657Humanname
597748043CV3671191single nucleotide variantNM_001130072.2(EPN1):c.-101-886G>Anot specified [RCV004923024]uncertain significance195567764155677641Humanname
155962553CV2388255single nucleotide variantNM_001130072.2(EPN1):c.-101-1340T>Cnot specified [RCV004234713]uncertain significance195567718755677187Humanname
156226005CV2390725single nucleotide variantNM_001130072.2(EPN1):c.-101-1336T>Cnot specified [RCV004241021]uncertain significance195567719155677191Humanname
598169363CV3965409single nucleotide variantNM_001130072.2(EPN1):c.-101-1351G>Tnot specified [RCV005330417]uncertain significance195567717655677176Humanname
405721909CV3249098single nucleotide variantNM_001130072.2(EPN1):c.59C>G (p.Ala20Gly)not specified [RCV004378103]uncertain significance195567868655678686Humanname
597748030CV3671188single nucleotide variantNM_001130072.2(EPN1):c.232A>G (p.Met78Val)not specified [RCV004923022]uncertain significance195568539955685399Humanname
598169376CV3965411single nucleotide variantNM_001130072.2(EPN1):c.243G>A (p.Met81Ile)not specified [RCV005330419]uncertain significance195568541055685410Humanname
155923578CV2217668single nucleotide variantNM_001130072.2(EPN1):c.808G>C (p.Ala270Pro)not specified [RCV004083863]likely benign195569179955691799Humanname
156237471CV2224211single nucleotide variantNM_001130072.2(EPN1):c.850G>A (p.Ala284Thr)not specified [RCV004096052]uncertain significance195569184155691841Humanname
156157468CV2363679single nucleotide variantNM_001130072.2(EPN1):c.955G>A (p.Asp319Asn)not specified [RCV004216626]uncertain significance195569194655691946Humanname
155985164CV2368063single nucleotide variantNM_001130072.2(EPN1):c.878C>T (p.Ser293Leu)not specified [RCV004216417]uncertain significance195569186955691869Humanname
156346391CV2382741single nucleotide variantNM_001130072.2(EPN1):c.905C>T (p.Pro302Leu)not specified [RCV004224092]uncertain significance195569189655691896Humanname
329383844CV2434892single nucleotide variantNM_001130072.2(EPN1):c.794C>T (p.Thr265Met)not specified [RCV004250767]uncertain significance195569178555691785Humanname
329357809CV2453797single nucleotide variantNM_001130072.2(EPN1):c.818C>T (p.Thr273Ile)not specified [RCV004271205]uncertain significance195569180955691809Humanname
329398680CV2471258single nucleotide variantNM_001130072.2(EPN1):c.755A>G (p.Lys252Arg)not specified [RCV004280285]uncertain significance195568994355689943Humanname
401737462CV2695809single nucleotide variantNM_001130072.2(EPN1):c.844A>G (p.Met282Val)not specified [RCV004308095]likely benign195569183555691835Humanname
401778825CV2732911single nucleotide variantNM_001130072.2(EPN1):c.476C>T (p.Thr159Met)not specified [RCV004331090]uncertain significance195568564355685643Humanname
401929260CV2818866single nucleotide variantNM_001130072.2(EPN1):c.608C>T (p.Pro203Leu)not provided [RCV003407133]likely benign195568930155689301Humanname
405721784CV3249082single nucleotide variantNM_001130072.2(EPN1):c.812C>T (p.Pro271Leu)not specified [RCV004378087]uncertain significance195569180355691803Humanname
405721921CV3249099single nucleotide variantNM_001130072.2(EPN1):c.406G>A (p.Asp136Asn)not specified [RCV004378104]uncertain significance195568557355685573Humanname
405721927CV3249100single nucleotide variantNM_001130072.2(EPN1):c.416G>T (p.Arg139Leu)not specified [RCV004378105]uncertain significance195568558355685583Humanname
405721933CV3249101single nucleotide variantNM_001130072.2(EPN1):c.434C>T (p.Ala145Val)not specified [RCV004378106]uncertain significance195568560155685601Humanname
407491958CV3431769single nucleotide variantNM_001130072.2(EPN1):c.542G>T (p.Ser181Ile)not specified [RCV004620638]uncertain significance195568893355688933Humanname
407491964CV3431771single nucleotide variantNM_001130072.2(EPN1):c.842C>T (p.Pro281Leu)not specified [RCV004620640]uncertain significance195569183355691833Humanname
597803831CV3671192single nucleotide variantNM_001130072.2(EPN1):c.334G>A (p.Val112Met)not specified [RCV004907388]uncertain significance195568550155685501Humanname
598169391CV3965414single nucleotide variantNM_001130072.2(EPN1):c.529T>C (p.Trp177Arg)not specified [RCV005330422]uncertain significance195568892055688920Humanname
598169396CV3965415single nucleotide variantNM_001130072.2(EPN1):c.587A>G (p.Lys196Arg)not specified [RCV005330423]uncertain significance195568897855688978Humanname
8637046CV92272single nucleotide variantNM_001130071.1(EPN1):c.464C>T (p.Ala155Val)Malignant melanoma [RCV000072370]not provided195567875855678758Humanname
156323981CV2198500single nucleotide variantNM_001130072.2(EPN1):c.1465A>G (p.Ser489Gly)not specified [RCV004075532]uncertain significance195569492655694926Humanname
156122481CV2227131single nucleotide variantNM_001130072.2(EPN1):c.1076C>T (p.Pro359Leu)not specified [RCV004091749]uncertain significance195569269555692695Humanname
155955269CV2274438single nucleotide variantNM_001130072.2(EPN1):c.1468C>T (p.Arg490Trp)not specified [RCV004136806]uncertain significance195569492955694929Humanname
156167138CV2279742single nucleotide variantNM_001130072.2(EPN1):c.1260C>A (p.Ser420Arg)not specified [RCV004144356]uncertain significance195569303355693033Humanname
156002786CV2288139single nucleotide variantNM_001130072.2(EPN1):c.1700C>T (p.Pro567Leu)not specified [RCV004149667]uncertain significance195569532555695325Humanname
155965557CV2308519single nucleotide variantNM_001130072.2(EPN1):c.1691C>T (p.Pro564Leu)not specified [RCV004166799]uncertain significance195569531655695316Humanname
156181306CV2320793single nucleotide variantNM_001130072.2(EPN1):c.1003G>T (p.Gly335Cys)not specified [RCV004172630]uncertain significance195569199455691994Humanname
156330833CV2339541single nucleotide variantNM_001130072.2(EPN1):c.1040C>T (p.Thr347Met)not specified [RCV004194207]uncertain significance195569203155692031Humanname
155979335CV2340040single nucleotide variantNM_001130072.2(EPN1):c.1099G>A (p.Asp367Asn)not specified [RCV004192287]uncertain significance195569271855692718Humanname
156341118CV2348171single nucleotide variantNM_001130072.2(EPN1):c.1196C>T (p.Thr399Met)not specified [RCV004190815]uncertain significance195569296955692969Humanname
156142293CV2358479single nucleotide variantNM_001130072.2(EPN1):c.1087C>T (p.Pro363Ser)not specified [RCV004207367]uncertain significance195569270655692706Humanname
155917005CV2366805single nucleotide variantNM_001130072.2(EPN1):c.1367C>A (p.Pro456Gln)not specified [RCV004210795]uncertain significance195569482855694828Humanname
401769163CV2693462single nucleotide variantNM_001130072.2(EPN1):c.1169G>C (p.Gly390Ala)not specified [RCV004295409]uncertain significance195569278855692788Humanname
401771258CV2700961single nucleotide variantNM_001130072.2(EPN1):c.1472C>T (p.Pro491Leu)not specified [RCV004307222]uncertain significance195569493355694933Humanname
401749826CV2711022single nucleotide variantNM_001130072.2(EPN1):c.1235C>A (p.Thr412Lys)not specified [RCV004310722]uncertain significance195569300855693008Humanname
401758001CV2731612single nucleotide variantNM_001130072.2(EPN1):c.1252G>A (p.Gly418Arg)not specified [RCV004330955]uncertain significance195569302555693025Humanname
401892540CV2782167single nucleotide variantNM_001130072.2(EPN1):c.1313C>T (p.Ala438Val)not specified [RCV004359147]uncertain significance195569477455694774Humanname
405721798CV3249084single nucleotide variantNM_001130072.2(EPN1):c.1204G>A (p.Asp402Asn)not specified [RCV004378089]uncertain significance195569297755692977Humanname
405721809CV3249085single nucleotide variantNM_001130072.2(EPN1):c.1221T>G (p.Phe407Leu)not specified [RCV004378090]uncertain significance195569299455692994Humanname
405721815CV3249086single nucleotide variantNM_001130072.2(EPN1):c.1226G>A (p.Arg409Gln)not specified [RCV004378091]uncertain significance195569299955692999Humanname
405721827CV3249088single nucleotide variantNM_001130072.2(EPN1):c.1307C>T (p.Pro436Leu)not specified [RCV004378093]uncertain significance195569476855694768Humanname
405721835CV3249089single nucleotide variantNM_001130072.2(EPN1):c.1397C>A (p.Pro466His)not specified [RCV004378094]uncertain significance195569485855694858Humanname
405721845CV3249090single nucleotide variantNM_001130072.2(EPN1):c.1402C>T (p.Arg468Trp)not specified [RCV004378095]uncertain significance195569486355694863Humanname
405721853CV3249091single nucleotide variantNM_001130072.2(EPN1):c.1600C>T (p.Arg534Cys)not specified [RCV004378096]uncertain significance195569522555695225Humanname
405721862CV3249092single nucleotide variantNM_001130072.2(EPN1):c.1631C>T (p.Ala544Val)not specified [RCV004378097]uncertain significance195569525655695256Humanname
405721869CV3249093single nucleotide variantNM_001130072.2(EPN1):c.1660G>A (p.Gly554Arg)not specified [RCV004378098]uncertain significance195569528555695285Humanname
407491954CV3431768single nucleotide variantNM_001130072.2(EPN1):c.1576G>T (p.Ala526Ser)not specified [RCV004620637]uncertain significance195569520155695201Humanname
407491968CV3431772single nucleotide variantNM_001130072.2(EPN1):c.1099G>T (p.Asp367Tyr)not specified [RCV004620641]uncertain significance195569271855692718Humanname
597803823CV3671184single nucleotide variantNM_001130072.2(EPN1):c.1141G>A (p.Gly381Arg)not specified [RCV004907384]uncertain significance195569276055692760Humanname
597748024CV3671187single nucleotide variantNM_001130072.2(EPN1):c.1601G>A (p.Arg534His)not specified [RCV004923021]uncertain significance195569522655695226Humanname
597803829CV3671189single nucleotide variantNM_001130072.2(EPN1):c.1167T>G (p.Asn389Lys)not specified [RCV004907387]uncertain significance195569278655692786Humanname
597748037CV3671190single nucleotide variantNM_001130072.2(EPN1):c.1477C>T (p.Pro493Ser)not specified [RCV004923023]uncertain significance195569493855694938Humanname
598169358CV3965408single nucleotide variantNM_001130072.2(EPN1):c.1183G>A (p.Gly395Arg)not specified [RCV005330416]uncertain significance195569295655692956Humanname
598169386CV3965413single nucleotide variantNM_001130072.2(EPN1):c.1244C>T (p.Pro415Leu)not specified [RCV005330421]uncertain significance195569301755693017Humanname