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


99 records found for search term Grik5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405278265CV3221759single nucleotide variantNM_002088.5(GRIK5):c.904-5C>TGRIK5-related disorder [RCV003976342]benign194205447742054477Humanname , trait , alternate_id
405257990CV3208049single nucleotide variantNM_002088.5(GRIK5):c.2263+9C>TGRIK5-related disorder [RCV003941508]likely benign194200571442005714Humanname , trait , alternate_id
12844860CV377744single nucleotide variantNM_002088.4(GRIK5):c.1698-4A>Tnot specified [RCV000438749]likely benign194202147842021478Humanname
401910551CV2808734single nucleotide variantNM_002088.5(GRIK5):c.2514+908G>Anot provided [RCV003425195]likely benign194200242442002424Humanname
405270650CV3212058single nucleotide variantNM_002088.5(GRIK5):c.2514+884C>GGRIK5-related disorder [RCV003949439]likely benign194200244842002448Humanname , trait , alternate_id
401928849CV2808735single nucleotide variantNM_002088.5(GRIK5):c.432C>T (p.Asp144=)not provided [RCV003406991]likely benign194206256442062564Humanname
405294034CV3203365single nucleotide variantNM_002088.5(GRIK5):c.657C>T (p.Asn219=)GRIK5-related disorder [RCV003933914]likely benign194205937942059379Humanname , trait , alternate_id
405266155CV3221068single nucleotide variantNM_002088.5(GRIK5):c.372G>A (p.Glu124=)GRIK5-related disorder [RCV003969193]likely benign194206262442062624Humanname , trait , alternate_id
408379977CV3509225single nucleotide variantNM_002088.5(GRIK5):c.903G>A (p.Ala301=)GRIK5-related disorder [RCV004753855]uncertain significance194205666242056662Humanname , trait , alternate_id
597770739CV3678657single nucleotide variantNM_002088.5(GRIK5):c.73C>T (p.Arg25Cys)not specified [RCV004928339]uncertain significance194206569842065698Humanname
156228076CV2212925single nucleotide variantNM_002088.5(GRIK5):c.229G>A (p.Glu77Lys)not specified [RCV004091559]uncertain significance194206523842065238Humanname
156385026CV2231253single nucleotide variantNM_002088.5(GRIK5):c.246G>C (p.Met82Ile)not specified [RCV004094450]uncertain significance194206285442062854Humanname
156059808CV2239369single nucleotide variantNM_002088.5(GRIK5):c.236C>T (p.Thr79Met)not specified [RCV004114104]uncertain significance194206523142065231Humanname
156287973CV2288446single nucleotide variantNM_002088.5(GRIK5):c.259C>G (p.Pro87Ala)not specified [RCV004151991]uncertain significance194206284142062841Humanname
155930851CV2297094single nucleotide variantNM_002088.5(GRIK5):c.160A>G (p.Ile54Val)not specified [RCV004151003]uncertain significance194206530742065307Humanname
155966610CV2304778single nucleotide variantNM_002088.5(GRIK5):c.205G>C (p.Glu69Gln)not specified [RCV004166921]uncertain significance194206526242065262Humanname
156251504CV2368838single nucleotide variantNM_002088.5(GRIK5):c.113G>A (p.Arg38His)not specified [RCV004207800]uncertain significance194206535442065354Humanname
401868550CV2767270single nucleotide variantNM_002088.5(GRIK5):c.115G>A (p.Gly39Ser)not specified [RCV004349441]uncertain significance194206535242065352Humanname
401937252CV2808733single nucleotide variantNM_002088.5(GRIK5):c.2706G>T (p.Ala902=)not provided [RCV003415260]likely benign194199910841999108Humanname
405255801CV3210873single nucleotide variantNM_002088.5(GRIK5):c.2010C>T (p.His670=)GRIK5-related disorder [RCV003939373]likely benign194200667242006672Humanname , trait , alternate_id
405261050CV3215564single nucleotide variantNM_002088.5(GRIK5):c.1026C>T (p.His342=)GRIK5-related disorder [RCV003944294]likely benign194205435042054350Humanname , trait , alternate_id
405758658CV3262640single nucleotide variantNM_002088.5(GRIK5):c.155A>G (p.Asn52Ser)not specified [RCV004393858]uncertain significance194206531242065312Humanname
405758664CV3262641single nucleotide variantNM_002088.5(GRIK5):c.166G>A (p.Glu56Lys)not specified [RCV004393859]uncertain significance194206530142065301Humanname
597755782CV3678652single nucleotide variantNM_002088.5(GRIK5):c.238G>T (p.Asp80Tyr)not specified [RCV004924707]uncertain significance194206522942065229Humanname
597714580CV3733123single nucleotide variantNM_002088.5(GRIK5):c.238G>A (p.Asp80Asn)not provided [RCV005052312]uncertain significance194206522942065229Humanname
15194119CV705040single nucleotide variantNM_002088.5(GRIK5):c.2076C>T (p.Tyr692=)not provided [RCV000955559]benign194200591042005910Humanname
15165436CV728212single nucleotide variantNM_002088.5(GRIK5):c.1167G>A (p.Gly389=)GRIK5-related disorder [RCV003968005]|not provided [RCV000882411]likely benign194205370442053704Humanname , trait , alternate_id
155977422CV2218734single nucleotide variantNM_002088.5(GRIK5):c.692C>T (p.Ser231Leu)not specified [RCV004084659]uncertain significance194205697442056974Humanname
156122322CV2241078single nucleotide variantNM_002088.5(GRIK5):c.401C>T (p.Ala134Val)not specified [RCV004104118]uncertain significance194206259542062595Humanname
156067508CV2317927single nucleotide variantNM_002088.5(GRIK5):c.620G>A (p.Arg207His)not specified [RCV004177052]uncertain significance194205941642059416Humanname
156184946CV2346468single nucleotide variantNM_002088.5(GRIK5):c.400G>A (p.Ala134Thr)not specified [RCV004206393]uncertain significance194206259642062596Humanname
155959826CV2390591single nucleotide variantNM_002088.5(GRIK5):c.433G>A (p.Val145Ile)not specified [RCV004239118]uncertain significance194206256342062563Humanname
329381937CV2467428single nucleotide variantNM_002088.5(GRIK5):c.376C>A (p.Pro126Thr)not specified [RCV004287044]uncertain significance194206262042062620Humanname
401782024CV2690061single nucleotide variantNM_002088.5(GRIK5):c.590G>A (p.Arg197Gln)not specified [RCV004299933]uncertain significance194205944642059446Humanname
401860561CV2776098single nucleotide variantNM_002088.5(GRIK5):c.965A>G (p.Asn322Ser)not specified [RCV004353202]uncertain significance194205441142054411Humanname
401934787CV2802956single nucleotide variantNM_002088.5(GRIK5):c.316G>T (p.Val106Leu)GRIK5-related disorder [RCV003412216]uncertain significance194206278442062784Humanname , trait , alternate_id
405292448CV3192494single nucleotide variantNM_002088.5(GRIK5):c.757C>T (p.His253Tyr)GRIK5-related disorder [RCV003929751]uncertain significance194205680842056808Humanname , trait , alternate_id
405268151CV3198852single nucleotide variantNM_002088.5(GRIK5):c.782C>T (p.Ser261Phe)GRIK5-related disorder [RCV003911970]likely benign194205678342056783Humanname , trait , alternate_id
405758695CV3262646single nucleotide variantNM_002088.5(GRIK5):c.352A>G (p.Ile118Val)not specified [RCV004393864]uncertain significance194206264442062644Humanname
405758701CV3262647single nucleotide variantNM_002088.5(GRIK5):c.679C>A (p.Leu227Ile)not specified [RCV004393865]uncertain significance194205935742059357Humanname
405758706CV3262648single nucleotide variantNM_002088.5(GRIK5):c.814A>G (p.Thr272Ala)not specified [RCV004393866]uncertain significance194205675142056751Humanname
405758712CV3262649single nucleotide variantNM_002088.5(GRIK5):c.881C>G (p.Ala294Gly)not specified [RCV004393867]uncertain significance194205668442056684Humanname
407463362CV3433229single nucleotide variantNM_002088.5(GRIK5):c.822C>A (p.His274Gln)not specified [RCV004634806]uncertain significance194205674342056743Humanname
408384592CV3504364single nucleotide variantNM_002088.5(GRIK5):c.481G>T (p.Ala161Ser)GRIK5-related disorder [RCV004731936]uncertain significance194206251542062515Humanname , trait , alternate_id
597770722CV3678653single nucleotide variantNM_002088.5(GRIK5):c.739A>G (p.Met247Val)not specified [RCV004928336]uncertain significance194205692742056927Humanname
597770726CV3678654single nucleotide variantNM_002088.5(GRIK5):c.928G>A (p.Ala310Thr)not specified [RCV004928337]uncertain significance194205444842054448Humanname
597770743CV3678659single nucleotide variantNM_002088.5(GRIK5):c.854A>C (p.Asn285Thr)not specified [RCV004928340]uncertain significance194205671142056711Humanname
597755794CV3678660single nucleotide variantNM_002088.5(GRIK5):c.376C>T (p.Pro126Ser)not specified [RCV004924710]uncertain significance194206262042062620Humanname
597770749CV3678661single nucleotide variantNM_002088.5(GRIK5):c.350A>T (p.His117Leu)not specified [RCV004928341]uncertain significance194206264642062646Humanname
597770754CV3678663single nucleotide variantNM_002088.5(GRIK5):c.778G>A (p.Asp260Asn)not specified [RCV004928342]uncertain significance194205678742056787Humanname
598234714CV3978115single nucleotide variantNM_002088.5(GRIK5):c.745T>A (p.Phe249Ile)not specified [RCV005342951]uncertain significance194205682042056820Humanname
598188144CV3978117single nucleotide variantNM_002088.5(GRIK5):c.931G>T (p.Val311Leu)not specified [RCV005353803]uncertain significance194205444542054445Humanname
598234728CV3978120single nucleotide variantNM_002088.5(GRIK5):c.388T>C (p.Tyr130His)not specified [RCV005342953]uncertain significance194206260842062608Humanname
598234735CV3978121single nucleotide variantNM_002088.5(GRIK5):c.441G>T (p.Leu147Phe)not specified [RCV005342954]uncertain significance194206255542062555Humanname
598188157CV3978122single nucleotide variantNM_002088.5(GRIK5):c.473A>G (p.Tyr158Cys)not specified [RCV005353805]uncertain significance194206252342062523Humanname
8636849CV92074single nucleotide variantNM_002088.4(GRIK5):c.475C>T (p.Pro159Ser)Malignant melanoma [RCV000072172]not provided194206252142062521Humanname
8636850CV92075single nucleotide variantNM_002088.4(GRIK5):c.452G>A (p.Arg151Gln)Malignant melanoma [RCV000072173]not provided194206254442062544Humanname
156197224CV2259243single nucleotide variantNM_002088.5(GRIK5):c.2816T>G (p.Ile939Ser)not specified [RCV004122265]uncertain significance194199899841998998Humanname
156197238CV2259244single nucleotide variantNM_002088.5(GRIK5):c.2825T>G (p.Leu942Arg)not specified [RCV004122266]uncertain significance194199898941998989Humanname
156298859CV2310663single nucleotide variantNM_002088.5(GRIK5):c.1837C>G (p.Arg613Gly)not specified [RCV004157323]uncertain significance194202133542021335Humanname
156039893CV2310750single nucleotide variantNM_002088.5(GRIK5):c.1394G>A (p.Arg465Gln)not specified [RCV004157680]uncertain significance194204263142042631Humanname
156357483CV2318306single nucleotide variantNM_002088.5(GRIK5):c.2830G>A (p.Ala944Thr)not specified [RCV004179474]uncertain significance194199898441998984Humanname
156034345CV2338671single nucleotide variantNM_002088.5(GRIK5):c.2240G>A (p.Gly747Asp)not specified [RCV004182249]uncertain significance194200574642005746Humanname
156235833CV2346393single nucleotide variantNM_002088.5(GRIK5):c.2777C>A (p.Pro926His)not specified [RCV004203872]uncertain significance194199903741999037Humanname
156165809CV2348625single nucleotide variantNM_002088.5(GRIK5):c.2296A>G (p.Ile766Val)not specified [RCV004195850]uncertain significance194200365142003651Humanname
155997319CV2393297single nucleotide variantNM_002088.5(GRIK5):c.2353G>C (p.Gly785Arg)not specified [RCV004228807]uncertain significance194200359442003594Humanname
329374710CV2431019single nucleotide variantNM_002088.5(GRIK5):c.1220A>G (p.Asn407Ser)not specified [RCV004250392]uncertain significance194205365142053651Humanname
329397174CV2456665single nucleotide variantNM_002088.5(GRIK5):c.2565C>G (p.Cys855Trp)not specified [RCV004277845]uncertain significance194199924941999249Humanname
401725896CV2687340single nucleotide variantNM_002088.5(GRIK5):c.1376G>A (p.Arg459His)not specified [RCV004298271]uncertain significance194204264942042649Humanname
401749911CV2695874single nucleotide variantNM_002088.5(GRIK5):c.1393C>T (p.Arg465Trp)not specified [RCV004308153]uncertain significance194204263242042632Humanname
401763835CV2725322single nucleotide variantNM_002088.5(GRIK5):c.1162A>G (p.Ile388Val)not specified [RCV004319984]uncertain significance194205370942053709Humanname
401889799CV2763402single nucleotide variantNM_002088.5(GRIK5):c.1744C>T (p.Arg582Cys)not specified [RCV004349291]uncertain significance194202142842021428Humanname
401862674CV2768591single nucleotide variantNM_002088.5(GRIK5):c.2134G>A (p.Val712Ile)not specified [RCV004344452]uncertain significance194200585242005852Humanname
401886451CV2780364single nucleotide variantNM_002088.5(GRIK5):c.2588G>C (p.Arg863Pro)not specified [RCV004357766]uncertain significance194199922641999226Humanname
401895291CV2786331single nucleotide variantNM_002088.5(GRIK5):c.2521G>C (p.Val841Leu)not specified [RCV004361936]uncertain significance194199929341999293Humanname
401885045CV2786658single nucleotide variantNM_002088.5(GRIK5):c.2770C>T (p.Pro924Ser)not specified [RCV004363787]uncertain significance194199904441999044Humanname
401908213CV2801307single nucleotide variantNM_002088.5(GRIK5):c.2359C>T (p.Arg787Trp)GRIK5-related disorder [RCV003397548]uncertain significance194200358842003588Humanname , trait , alternate_id
401932701CV2804402single nucleotide variantNM_002088.5(GRIK5):c.1426G>A (p.Glu476Lys)GRIK5-related disorder [RCV003408789]uncertain significance194204259942042599Humanname , trait , alternate_id
405276232CV3206648single nucleotide variantNM_002088.5(GRIK5):c.1054A>G (p.Met352Val)GRIK5-related disorder [RCV003917089]likely benign194205432242054322Humanname , trait , alternate_id
405291871CV3221174single nucleotide variantNM_002088.5(GRIK5):c.1742C>T (p.Ala581Val)GRIK5-related disorder [RCV003964269]likely benign194202143042021430Humanname , trait , alternate_id
405758672CV3262642single nucleotide variantNM_002088.5(GRIK5):c.2354G>A (p.Gly785Glu)not specified [RCV004393860]uncertain significance194200359342003593Humanname
405758677CV3262643single nucleotide variantNM_002088.5(GRIK5):c.2809C>G (p.Arg937Gly)not specified [RCV004393861]uncertain significance194199900541999005Humanname
405758682CV3262644single nucleotide variantNM_002088.5(GRIK5):c.2921G>A (p.Arg974Gln)not specified [RCV004393862]uncertain significance194199889341998893Humanname
405758686CV3262645single nucleotide variantNM_002088.5(GRIK5):c.2934G>T (p.Glu978Asp)not specified [RCV004393863]uncertain significance194199888041998880Humanname
407463320CV3433220single nucleotide variantNM_002088.5(GRIK5):c.1375C>T (p.Arg459Cys)not specified [RCV004634797]uncertain significance194204265042042650Humanname
407463325CV3433221single nucleotide variantNM_002088.5(GRIK5):c.2788G>T (p.Val930Leu)not specified [RCV004634798]uncertain significance194199902641999026Humanname
407463331CV3433222single nucleotide variantNM_002088.5(GRIK5):c.2521G>A (p.Val841Met)not specified [RCV004634799]uncertain significance194199929341999293Humanname
407463340CV3433224single nucleotide variantNM_002088.5(GRIK5):c.1366G>A (p.Glu456Lys)not specified [RCV004634801]uncertain significance194204265942042659Humanname
407463345CV3433225single nucleotide variantNM_002088.5(GRIK5):c.2567G>A (p.Arg856His)not specified [RCV004634802]uncertain significance194199924741999247Humanname
407463349CV3433226single nucleotide variantNM_002088.5(GRIK5):c.2560T>A (p.Ser854Thr)not specified [RCV004634803]uncertain significance194199925441999254Humanname
407463353CV3433227single nucleotide variantNM_002088.5(GRIK5):c.2561C>G (p.Ser854Cys)not specified [RCV004634804]uncertain significance194199925341999253Humanname
407463358CV3433228single nucleotide variantNM_002088.5(GRIK5):c.2567G>T (p.Arg856Leu)not specified [RCV004634805]uncertain significance194199924741999247Humanname
597755786CV3678655single nucleotide variantNM_002088.5(GRIK5):c.1156C>T (p.Arg386Cys)not specified [RCV004924708]uncertain significance194205383042053830Humanname
597770733CV3678656single nucleotide variantNM_002088.5(GRIK5):c.1242C>A (p.Asn414Lys)not specified [RCV004928338]uncertain significance194205362942053629Humanname
597755790CV3678658single nucleotide variantNM_002088.5(GRIK5):c.2131C>T (p.Arg711Cys)not specified [RCV004924709]uncertain significance194200585542005855Humanname
597755798CV3678662single nucleotide variantNM_002088.5(GRIK5):c.2750G>T (p.Ser917Ile)not specified [RCV004924711]uncertain significance194199906441999064Humanname
598188136CV3978116single nucleotide variantNM_002088.5(GRIK5):c.2189G>A (p.Arg730Gln)not specified [RCV005353802]uncertain significance194200579742005797Humanname
598188147CV3978119single nucleotide variantNM_002088.5(GRIK5):c.2644G>A (p.Glu882Lys)not specified [RCV005353804]uncertain significance194199917041999170Humanname
15104971CV705039single nucleotide variantNM_002088.5(GRIK5):c.2495G>T (p.Arg832Met)GRIK5-related disorder [RCV003978347]|not provided [RCV000959791]benign194200335142003351Humanname , trait , alternate_id