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103 records found for search term Engase
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598269357CV3954243single nucleotide variantNM_001042573.3(ENGASE):c.41G>A (p.Arg14Gln)not specified [RCV005327318]uncertain significance177907498579074985Humanname
15170012CV727488single nucleotide variantNM_001042573.3(ENGASE):c.390C>T (p.Asp130=)not provided [RCV000883390]benign177907783879077838Humanname
156029284CV2238301single nucleotide variantNM_001042573.3(ENGASE):c.112G>A (p.Glu38Lys)not specified [RCV004113379]uncertain significance177907505679075056Humanname
156132780CV2350189single nucleotide variantNM_001042573.3(ENGASE):c.179G>A (p.Arg60Gln)not specified [RCV004200103]uncertain significance177907746279077462Humanname
155931209CV2361393single nucleotide variantNM_001042573.3(ENGASE):c.179G>C (p.Arg60Pro)not specified [RCV004218593]uncertain significance177907746279077462Humanname
155988795CV2371864single nucleotide variantNM_001042573.3(ENGASE):c.200C>T (p.Pro67Leu)not specified [RCV004221555]uncertain significance177907748379077483Humanname
329371660CV2432043single nucleotide variantNM_001042573.3(ENGASE):c.284C>T (p.Ala95Val)not specified [RCV004249194]uncertain significance177907773279077732Humanname
329353953CV2439787single nucleotide variantNM_001042573.3(ENGASE):c.134G>C (p.Arg45Pro)not specified [RCV004255790]uncertain significance177907507879075078Humanname
401907854CV2808494single nucleotide variantNM_001042573.3(ENGASE):c.1116G>A (p.Lys372=)not provided [RCV003422953]likely benign177908309779083097Humanname
405756356CV3245130single nucleotide variantNM_001042573.3(ENGASE):c.197C>T (p.Ser66Phe)not specified [RCV004382762]uncertain significance177907748079077480Humanname
15186158CV741097single nucleotide variantNM_001042573.3(ENGASE):c.1896C>T (p.Ser632=)not provided [RCV000908731]likely benign177908601379086013Humanname
156049199CV2241873single nucleotide variantNM_001042573.3(ENGASE):c.341G>A (p.Arg114His)not specified [RCV004106793]uncertain significance177907778979077789Humanname
156243035CV2246309single nucleotide variantNM_001042573.3(ENGASE):c.478G>A (p.Val160Ile)not specified [RCV004107754]likely benign177907955079079550Humanname
155957006CV2282003single nucleotide variantNM_001042573.3(ENGASE):c.976T>C (p.Tyr326His)not specified [RCV004138762]uncertain significance177908200179082001Humanname
156052490CV2329028single nucleotide variantNM_001042573.3(ENGASE):c.475G>A (p.Asp159Asn)not specified [RCV004180310]uncertain significance177907954779079547Humanname
156079932CV2341294single nucleotide variantNM_001042573.3(ENGASE):c.346C>G (p.Pro116Ala)not specified [RCV004186703]uncertain significance177907779479077794Humanname
156112389CV2353423single nucleotide variantNM_001042573.3(ENGASE):c.965G>A (p.Arg322Gln)not specified [RCV004205881]uncertain significance177908199079081990Humanname
156046485CV2397329single nucleotide variantNM_001042573.3(ENGASE):c.958G>C (p.Glu320Gln)not specified [RCV004238855]uncertain significance177908198379081983Humanname
329370251CV2435524single nucleotide variantNM_001042573.3(ENGASE):c.578C>T (p.Thr193Met)not specified [RCV004253165]uncertain significance177908021979080219Humanname
401738316CV2711777single nucleotide variantNM_001042573.3(ENGASE):c.856C>T (p.Leu286Phe)not specified [RCV004309426]uncertain significance177908105779081057Humanname
401856204CV2764449single nucleotide variantNM_001042573.3(ENGASE):c.758G>A (p.Arg253Gln)not specified [RCV004339014]uncertain significance177908095979080959Humanname
401881662CV2783913single nucleotide variantNM_001042573.3(ENGASE):c.323T>C (p.Leu108Pro)not specified [RCV004362341]uncertain significance177907777179077771Humanname
405756383CV3245134single nucleotide variantNM_001042573.3(ENGASE):c.346C>A (p.Pro116Thr)not specified [RCV004382766]uncertain significance177907779479077794Humanname
405756387CV3245135single nucleotide variantNM_001042573.3(ENGASE):c.485T>G (p.Val162Gly)not specified [RCV004382767]uncertain significance177907955779079557Humanname
405756393CV3245136single nucleotide variantNM_001042573.3(ENGASE):c.523G>A (p.Gly175Ser)not specified [RCV004382768]uncertain significance177907959579079595Humanname
405756399CV3245137single nucleotide variantNM_001042573.3(ENGASE):c.650C>A (p.Ala217Asp)not specified [RCV004382769]uncertain significance177908029179080291Humanname
405756406CV3245138single nucleotide variantNM_001042573.3(ENGASE):c.692G>C (p.Gly231Ala)not specified [RCV004382770]uncertain significance177908033379080333Humanname
405756413CV3245139single nucleotide variantNM_001042573.3(ENGASE):c.716C>T (p.Ser239Leu)not specified [RCV004382771]uncertain significance177908035779080357Humanname
405756420CV3245140single nucleotide variantNM_001042573.3(ENGASE):c.782G>A (p.Arg261Gln)not specified [RCV004382772]likely benign177908098379080983Humanname
405756427CV3245141single nucleotide variantNM_001042573.3(ENGASE):c.919C>T (p.Arg307Trp)not specified [RCV004382773]uncertain significance177908194479081944Humanname
405756436CV3245142single nucleotide variantNM_001042573.3(ENGASE):c.985G>A (p.Val329Met)not specified [RCV004382774]uncertain significance177908201079082010Humanname
597686181CV3664499single nucleotide variantNM_001042573.3(ENGASE):c.775C>G (p.Leu259Val)not specified [RCV004914862]uncertain significance177908097679080976Humanname
597686197CV3664501single nucleotide variantNM_001042573.3(ENGASE):c.877T>G (p.Phe293Val)not specified [RCV004914864]uncertain significance177908190279081902Humanname
597686205CV3664502single nucleotide variantNM_001042573.3(ENGASE):c.409G>C (p.Asp137His)not specified [RCV004914865]uncertain significance177907785779077857Humanname
597686215CV3664503single nucleotide variantNM_001042573.3(ENGASE):c.370C>T (p.Arg124Trp)not specified [RCV004914866]uncertain significance177907781879077818Humanname
597686223CV3664504single nucleotide variantNM_001042573.3(ENGASE):c.631C>T (p.Arg211Cys)not specified [RCV004914867]uncertain significance177908027279080272Humanname
598269340CV3954240single nucleotide variantNM_001042573.3(ENGASE):c.944T>C (p.Leu315Pro)not specified [RCV005327315]uncertain significance177908196979081969Humanname
598269363CV3954244single nucleotide variantNM_001042573.3(ENGASE):c.895G>A (p.Gly299Ser)not specified [RCV005327319]uncertain significance177908192079081920Humanname
598269383CV3954248single nucleotide variantNM_001042573.3(ENGASE):c.920G>A (p.Arg307Gln)not specified [RCV005327323]uncertain significance177908194579081945Humanname
598269388CV3954249single nucleotide variantNM_001042573.3(ENGASE):c.656G>A (p.Arg219Gln)not specified [RCV005327324]likely benign177908029779080297Humanname
598269393CV3954250single nucleotide variantNM_001042573.3(ENGASE):c.745C>T (p.Pro249Ser)not specified [RCV005327325]uncertain significance177908094679080946Humanname
598269399CV3954251single nucleotide variantNM_001042573.3(ENGASE):c.926A>C (p.Glu309Ala)not specified [RCV005327326]uncertain significance177908195179081951Humanname
15165984CV715768single nucleotide variantNM_001042573.3(ENGASE):c.505G>A (p.Val169Ile)not provided [RCV000971070]benign177907957779079577Humanname
8628086CV83230single nucleotide variantNM_001042573.2(ENGASE):c.515C>T (p.Pro172Leu)Malignant melanoma [RCV000063310]not provided177907958779079587Humanname
156398439CV2200792single nucleotide variantNM_001042573.3(ENGASE):c.1247G>T (p.Gly416Val)not specified [RCV004081431]uncertain significance177908358679083586Humanname
156249805CV2222155single nucleotide variantNM_001042573.3(ENGASE):c.2086C>T (p.Arg696Trp)not specified [RCV004104908]uncertain significance177908620379086203Humanname
156287958CV2229701single nucleotide variantNM_001042573.3(ENGASE):c.2116G>A (p.Gly706Arg)not specified [RCV004103506]uncertain significance177908623379086233Humanname
156132624CV2235335single nucleotide variantNM_001042573.3(ENGASE):c.1254A>C (p.Glu418Asp)not specified [RCV004107362]uncertain significance177908376379083763Humanname
155901889CV2237818single nucleotide variantNM_001042573.3(ENGASE):c.1696C>G (p.Gln566Glu)not specified [RCV004109058]uncertain significance177908533879085338Humanname
156127744CV2244701single nucleotide variantNM_001042573.3(ENGASE):c.1163G>A (p.Arg388His)not specified [RCV004102702]uncertain significance177908350279083502Humanname
156272077CV2280865single nucleotide variantNM_001042573.3(ENGASE):c.1312G>A (p.Glu438Lys)not specified [RCV004145118]uncertain significance177908382179083821Humanname
156292938CV2306281single nucleotide variantNM_001042573.3(ENGASE):c.1883G>A (p.Arg628His)not specified [RCV004163002]uncertain significance177908600079086000Humanname
156351167CV2316357single nucleotide variantNM_001042573.3(ENGASE):c.1483C>G (p.Leu495Val)not specified [RCV004174366]uncertain significance177908457879084578Humanname
156260671CV2322316single nucleotide variantNM_001042573.3(ENGASE):c.1970A>G (p.Gln657Arg)not specified [RCV004176075]uncertain significance177908608779086087Humanname
156166961CV2330162single nucleotide variantNM_001042573.3(ENGASE):c.1418C>T (p.Pro473Leu)not specified [RCV004185648]uncertain significance177908392779083927Humanname
155963706CV2330360single nucleotide variantNM_001042573.3(ENGASE):c.1001G>A (p.Arg334Gln)not specified [RCV004180936]uncertain significance177908202679082026Humanname
156177245CV2331227single nucleotide variantNM_001042573.3(ENGASE):c.1574G>A (p.Gly525Asp)not specified [RCV004181830]uncertain significance177908466979084669Humanname
155977589CV2342906single nucleotide variantNM_001042573.3(ENGASE):c.2074G>A (p.Ala692Thr)not specified [RCV004189938]uncertain significance177908619179086191Humanname
155924096CV2347621single nucleotide variantNM_001042573.3(ENGASE):c.1261G>A (p.Val421Ile)not specified [RCV004200558]uncertain significance177908377079083770Humanname
156184112CV2349894single nucleotide variantNM_001042573.3(ENGASE):c.2177G>A (p.Arg726Gln)not specified [RCV004206311]uncertain significance177908629479086294Humanname
156193747CV2351827single nucleotide variantNM_001042573.3(ENGASE):c.1055G>A (p.Arg352Gln)not specified [RCV004197973]uncertain significance177908303679083036Humanname
156137233CV2357374single nucleotide variantNM_001042573.3(ENGASE):c.1399G>A (p.Val467Ile)not specified [RCV004200260]likely benign177908390879083908Humanname
155983327CV2371260single nucleotide variantNM_001042573.3(ENGASE):c.1882C>T (p.Arg628Cys)not specified [RCV004220997]uncertain significance177908599979085999Humanname
329394021CV2450027single nucleotide variantNM_001042573.3(ENGASE):c.1355A>G (p.His452Arg)not specified [RCV004269081]uncertain significance177908386479083864Humanname
401728355CV2672892single nucleotide variantNM_001042573.3(ENGASE):c.1280T>G (p.Leu427Arg)not specified [RCV004283898]uncertain significance177908378979083789Humanname
401742637CV2673834single nucleotide variantNM_001042573.3(ENGASE):c.1305G>C (p.Leu435Phe)not specified [RCV004293217]uncertain significance177908381479083814Humanname
401767892CV2677850single nucleotide variantNM_001042573.3(ENGASE):c.1201G>A (p.Val401Ile)not specified [RCV004294346]uncertain significance177908354079083540Humanname
401781970CV2690030single nucleotide variantNM_001042573.3(ENGASE):c.1252G>C (p.Glu418Gln)not specified [RCV004299905]uncertain significance177908376179083761Humanname
401741731CV2697615single nucleotide variantNM_001042573.3(ENGASE):c.1449T>G (p.Phe483Leu)not specified [RCV004298363]uncertain significance177908454479084544Humanname
401773444CV2698216single nucleotide variantNM_001042573.3(ENGASE):c.1915C>T (p.Pro639Ser)not specified [RCV004304781]uncertain significance177908603279086032Humanname
401862797CV2758939single nucleotide variantNM_001042573.3(ENGASE):c.1967C>T (p.Ser656Leu)not specified [RCV004340016]uncertain significance177908608479086084Humanname
401891823CV2780822single nucleotide variantNM_001042573.3(ENGASE):c.2048T>C (p.Met683Thr)not specified [RCV004352140]uncertain significance177908616579086165Humanname
405756271CV3245118single nucleotide variantNM_001042573.3(ENGASE):c.1114A>G (p.Lys372Glu)not specified [RCV004382750]uncertain significance177908309579083095Humanname
405756277CV3245119single nucleotide variantNM_001042573.3(ENGASE):c.1205C>T (p.Thr402Met)not specified [RCV004382751]uncertain significance177908354479083544Humanname
405756284CV3245120single nucleotide variantNM_001042573.3(ENGASE):c.1232G>A (p.Arg411Gln)not specified [RCV004382752]uncertain significance177908357179083571Humanname
405756291CV3245121single nucleotide variantNM_001042573.3(ENGASE):c.1273T>C (p.Tyr425His)not specified [RCV004382753]uncertain significance177908378279083782Humanname
405756676CV3245122single nucleotide variantNM_001042573.3(ENGASE):c.1474A>G (p.Lys492Glu)not specified [RCV004382754]uncertain significance177908456979084569Humanname
405756305CV3245123single nucleotide variantNM_001042573.3(ENGASE):c.1555G>A (p.Gly519Ser)not specified [RCV004382755]likely benign177908465079084650Humanname
405756311CV3245124single nucleotide variantNM_001042573.3(ENGASE):c.1624C>T (p.Leu542Phe)not specified [RCV004382756]uncertain significance177908526679085266Humanname
405756316CV3245125single nucleotide variantNM_001042573.3(ENGASE):c.1763C>T (p.Pro588Leu)not specified [RCV004382757]uncertain significance177908568279085682Humanname
405756326CV3245126single nucleotide variantNM_001042573.3(ENGASE):c.1774C>T (p.Arg592Trp)not specified [RCV004382758]uncertain significance177908569379085693Humanname
405756333CV3245127single nucleotide variantNM_001042573.3(ENGASE):c.1864G>A (p.Val622Ile)not specified [RCV004382759]uncertain significance177908598179085981Humanname
405756340CV3245128single nucleotide variantNM_001042573.3(ENGASE):c.1906C>T (p.Arg636Trp)not specified [RCV004382760]uncertain significance177908602379086023Humanname
405756349CV3245129single nucleotide variantNM_001042573.3(ENGASE):c.1972G>A (p.Val658Ile)not specified [RCV004382761]uncertain significance177908608979086089Humanname
405756362CV3245131single nucleotide variantNM_001042573.3(ENGASE):c.2059C>G (p.Leu687Val)not specified [RCV004382763]uncertain significance177908617679086176Humanname
405756371CV3245132single nucleotide variantNM_001042573.3(ENGASE):c.2077A>T (p.Thr693Ser)not specified [RCV004382764]uncertain significance177908619479086194Humanname
407507215CV3435051single nucleotide variantNM_001042573.3(ENGASE):c.1872C>G (p.Ile624Met)not specified [RCV004625026]uncertain significance177908598979085989Humanname
407507217CV3435052single nucleotide variantNM_001042573.3(ENGASE):c.1022G>A (p.Arg341Gln)not specified [RCV004625027]uncertain significance177908204779082047Humanname
407507220CV3435053single nucleotide variantNM_001042573.3(ENGASE):c.1037A>G (p.Lys346Arg)not specified [RCV004625028]uncertain significance177908206279082062Humanname
407507222CV3435054single nucleotide variantNM_001042573.3(ENGASE):c.1489A>G (p.Met497Val)not specified [RCV004625029]uncertain significance177908458479084584Humanname
407507224CV3435055single nucleotide variantNM_001042573.3(ENGASE):c.1541C>T (p.Thr514Ile)not specified [RCV004625030]uncertain significance177908463679084636Humanname
597686171CV3664498single nucleotide variantNM_001042573.3(ENGASE):c.2197G>A (p.Gly733Ser)not specified [RCV004914861]uncertain significance177908631479086314Humanname
597686231CV3664505single nucleotide variantNM_001042573.3(ENGASE):c.1567A>C (p.Ile523Leu)not specified [RCV004914868]uncertain significance177908466279084662Humanname
597747268CV3664506single nucleotide variantNM_001042573.3(ENGASE):c.2129A>G (p.Asp710Gly)not specified [RCV004922893]uncertain significance177908624679086246Humanname
597686242CV3664507single nucleotide variantNM_001042573.3(ENGASE):c.2213T>C (p.Leu738Pro)not specified [RCV004914869]uncertain significance177908633079086330Humanname
597747273CV3664508single nucleotide variantNM_001042573.3(ENGASE):c.2206G>C (p.Val736Leu)not specified [RCV004922894]uncertain significance177908632379086323Humanname
598269346CV3954241single nucleotide variantNM_001042573.3(ENGASE):c.1259C>T (p.Ala420Val)not specified [RCV005327316]uncertain significance177908376879083768Humanname
598269352CV3954242single nucleotide variantNM_001042573.3(ENGASE):c.1907G>A (p.Arg636Gln)not specified [RCV005327317]uncertain significance177908602479086024Humanname
598269368CV3954245single nucleotide variantNM_001042573.3(ENGASE):c.1001G>C (p.Arg334Pro)not specified [RCV005327320]uncertain significance177908202679082026Humanname
598269373CV3954246single nucleotide variantNM_001042573.3(ENGASE):c.1391C>T (p.Ser464Phe)not specified [RCV005327321]uncertain significance177908390079083900Humanname
598269378CV3954247single nucleotide variantNM_001042573.3(ENGASE):c.1838T>C (p.Leu613Pro)not specified [RCV005327322]uncertain significance177908595579085955Humanname
598269405CV3954252single nucleotide variantNM_001042573.3(ENGASE):c.1622C>T (p.Pro541Leu)not specified [RCV005327327]uncertain significance177908526479085264Humanname
15173088CV715769single nucleotide variantNM_001042573.3(ENGASE):c.1664G>A (p.Arg555His)not provided [RCV000972544]benign177908530679085306Humanname