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181 records found for search term Peg3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15172538CV731306single nucleotide variantNM_006210.3(PEG3):c.395-4T>Gnot provided [RCV000883860]benign195682368356823683Humanname
156177552CV2374530single nucleotide variantNM_006210.3(PEG3):c.23C>T (p.Ser8Phe)not specified [RCV004232032]uncertain significance195682463356824633Humanname
15130184CV716716single nucleotide variantNM_006210.3(PEG3):c.225G>A (p.Leu75=)not provided [RCV000964391]benign195682443156824431Humanname
15163141CV705282single nucleotide variantNM_006210.3(PEG3):c.933C>T (p.His311=)not provided [RCV000948012]benign195681750956817509Humanname
15100984CV728429single nucleotide variantNM_006210.3(PEG3):c.333G>A (p.Pro111=)not provided [RCV000892204]likely benign195682432356824323Humanname
8637076CV92302single nucleotide variantNM_006210.2(PEG3):c.702C>T (p.Leu234=)Malignant melanoma [RCV000072400]not provided195681867056818670Humanname
156210650CV2314329single nucleotide variantNM_006210.3(PEG3):c.221G>C (p.Trp74Ser)not specified [RCV004166674]uncertain significance195682443556824435Humanname
401865099CV2768668single nucleotide variantNM_006210.3(PEG3):c.148C>G (p.Arg50Gly)not specified [RCV004344516]uncertain significance195682450856824508Humanname
405790404CV3372319single nucleotide variantNM_006210.3(PEG3):c.263T>G (p.Leu88Arg)not specified [RCV004505738]uncertain significance195682439356824393Humanname
407484075CV3470609single nucleotide variantNM_006210.3(PEG3):c.290T>G (p.Ile97Ser)not specified [RCV004655683]uncertain significance195682436656824366Humanname
597722538CV3575541single nucleotide variantNM_006210.3(PEG3):c.279G>C (p.Gln93His)not specified [RCV004842033]uncertain significance195682437756824377Humanname
597766551CV3575543single nucleotide variantNM_006210.3(PEG3):c.119C>A (p.Thr40Asn)not specified [RCV004850291]uncertain significance195682453756824537Humanname
597722592CV3575546single nucleotide variantNM_006210.3(PEG3):c.182G>A (p.Arg61Gln)not specified [RCV004842037]likely benign195682447456824474Humanname
597722714CV3575555single nucleotide variantNM_006210.3(PEG3):c.137A>G (p.His46Arg)not specified [RCV004842045]uncertain significance195682451956824519Humanname
598261369CV3999552single nucleotide variantNM_006210.3(PEG3):c.286A>G (p.Thr96Ala)not specified [RCV005386878]uncertain significance195682437056824370Humanname
15136485CV716708single nucleotide variantNM_006210.3(PEG3):c.2883A>G (p.Thr961=)not provided [RCV000965462]benign195681555956815559Humanname
15194242CV728425single nucleotide variantNM_006210.3(PEG3):c.2790T>C (p.Arg930=)not provided [RCV000889169]benign195681565256815652Humanname
15127807CV742141single nucleotide variantNM_006210.3(PEG3):c.202C>T (p.Arg68Ter)not provided [RCV000897170]likely benign195682445456824454Humanname
8637077CV92303single nucleotide variantNM_006210.2(PEG3):c.203G>A (p.Arg68Gln)Malignant melanoma [RCV000072401]not provided195682445356824453Humanname
155932091CV2221156single nucleotide variantNM_006210.3(PEG3):c.304C>G (p.Leu102Val)not specified [RCV004094605]uncertain significance195682435256824352Humanname
156244055CV2231566single nucleotide variantNM_006210.3(PEG3):c.977C>G (p.Ser326Cys)not specified [RCV004096621]uncertain significance195681746556817465Humanname
156396105CV2326096single nucleotide variantNM_006210.3(PEG3):c.890A>C (p.Lys297Thr)not specified [RCV004180379]uncertain significance195681755256817552Humanname
156363552CV2329930single nucleotide variantNM_006210.3(PEG3):c.325A>G (p.Lys109Glu)not specified [RCV004599542]uncertain significance195682433156824331Humanname
156275290CV2351814single nucleotide variantNM_006210.3(PEG3):c.809C>T (p.Thr270Met)not specified [RCV004197963]uncertain significance195681779956817799Humanname
156096287CV2375343single nucleotide variantNM_006210.3(PEG3):c.424G>A (p.Asp142Asn)not specified [RCV004232744]uncertain significance195682365056823650Humanname
329358083CV2453886single nucleotide variantNM_006210.3(PEG3):c.992C>A (p.Ala331Glu)not specified [RCV004271276]uncertain significance195681745056817450Humanname
405790432CV3372327single nucleotide variantNM_006210.3(PEG3):c.355A>C (p.Thr119Pro)not specified [RCV004505746]uncertain significance195682430156824301Humanname
405790448CV3372332single nucleotide variantNM_006210.3(PEG3):c.905G>A (p.Arg302Gln)not specified [RCV004505751]uncertain significance195681753756817537Humanname
405790452CV3372333single nucleotide variantNM_006210.3(PEG3):c.933C>G (p.His311Gln)not specified [RCV004505752]uncertain significance195681750956817509Humanname
407484056CV3470603single nucleotide variantNM_006210.3(PEG3):c.971G>A (p.Arg324His)not specified [RCV004655681]uncertain significance195681747156817471Humanname
597722510CV3575539single nucleotide variantNM_006210.3(PEG3):c.488G>A (p.Arg163Gln)not specified [RCV004842031]uncertain significance195682283056822830Humanname
597722636CV3575549single nucleotide variantNM_006210.3(PEG3):c.902G>A (p.Arg301Gln)not specified [RCV004842040]uncertain significance195681754056817540Humanname
597722681CV3575552single nucleotide variantNM_006210.3(PEG3):c.881A>G (p.Glu294Gly)not specified [RCV004842043]uncertain significance195681756156817561Humanname
598196612CV3999553single nucleotide variantNM_006210.3(PEG3):c.356C>G (p.Thr119Ser)not specified [RCV005397742]uncertain significance195682430056824300Humanname
598261396CV3999559single nucleotide variantNM_006210.3(PEG3):c.988A>G (p.Arg330Gly)not specified [RCV005386883]uncertain significance195681745456817454Humanname
616939436CV4013926single nucleotide variantNM_006210.3(PEG3):c.4227T>C (p.Ala1409=)not provided [RCV005413418]likely benign195681421556814215Humanname
15171529CV705280single nucleotide variantNM_006210.3(PEG3):c.3831C>T (p.Thr1277=)not provided [RCV000949849]benign195681461156814611Humanname
15178983CV716714single nucleotide variantNM_006210.3(PEG3):c.859C>G (p.Arg287Gly)PEG3-related disorder [RCV003936177]|not provided [RCV000973798]likely benign195681774956817749Humanname , trait , alternate_id
15143185CV716715single nucleotide variantNM_006210.3(PEG3):c.628G>A (p.Glu210Lys)not provided [RCV000966622]benign195682169256821692Humanname
15194680CV728422single nucleotide variantNM_006210.3(PEG3):c.4701C>T (p.Asp1567=)not provided [RCV000889287]benign195681374156813741Humanname
15181760CV728423single nucleotide variantNM_006210.3(PEG3):c.3933C>T (p.Tyr1311=)not provided [RCV000885837]benign195681450956814509Humanname
15179678CV728424single nucleotide variantNM_006210.3(PEG3):c.3870T>A (p.Ser1290=)not provided [RCV000885345]likely benign195681457256814572Humanname
15153602CV728427single nucleotide variantNM_006210.3(PEG3):c.530G>A (p.Arg177Gln)not provided [RCV000880042]likely benign195682278856822788Humanname
15164788CV728428single nucleotide variantNM_006210.3(PEG3):c.427G>A (p.Asp143Asn)not provided [RCV000882273]likely benign195682364756823647Humanname
15167970CV742137single nucleotide variantNM_006210.3(PEG3):c.4167C>T (p.Gly1389=)not provided [RCV000904757]benign195681427556814275Humanname
15192548CV742138single nucleotide variantNM_006210.3(PEG3):c.4083T>C (p.Asp1361=)not provided [RCV000910575]benign|likely benign195681435956814359Humanname
15137272CV742140single nucleotide variantNM_006210.3(PEG3):c.479T>C (p.Phe160Ser)not provided [RCV000898774]likely benign195682359556823595Humanname
15164799CV757267single nucleotide variantNM_006210.3(PEG3):c.4089A>G (p.Ala1363=)not provided [RCV000926471]likely benign195681435356814353Humanname
8628428CV83572single nucleotide variantNM_006210.2(PEG3):c.985G>A (p.Gly329Arg)Malignant melanoma [RCV000063653]not provided195681745756817457Humanname
8637075CV92301single nucleotide variantNM_006210.2(PEG3):c.3333C>T (p.Asp1111=)Malignant melanoma [RCV000072399]not provided195681510956815109Humanname
126911203CV1038745single nucleotide variantNM_006210.3(PEG3):c.1529G>A (p.Cys510Tyr)not provided [RCV001355115]uncertain significance195681691356816913Humanname
156265372CV2198650single nucleotide variantNM_006210.3(PEG3):c.1799G>A (p.Arg600His)not specified [RCV004075663]uncertain significance195681664356816643Humanname
155914978CV2203901single nucleotide variantNM_006210.3(PEG3):c.1333A>G (p.Ile445Val)not specified [RCV004069952]likely benign195681710956817109Humanname
156031397CV2249783single nucleotide variantNM_006210.3(PEG3):c.1862A>G (p.Tyr621Cys)not specified [RCV004122548]uncertain significance195681658056816580Humanname
155980835CV2272776single nucleotide variantNM_006210.3(PEG3):c.1804C>T (p.Arg602Cys)not specified [RCV004135692]uncertain significance195681663856816638Humanname
156137531CV2280594single nucleotide variantNM_006210.3(PEG3):c.1280G>A (p.Ser427Asn)not specified [RCV004143073]uncertain significance195681716256817162Humanname
156279564CV2285090single nucleotide variantNM_006210.3(PEG3):c.1758T>A (p.Phe586Leu)not specified [RCV004145320]uncertain significance195681668456816684Humanname
155906731CV2303370single nucleotide variantNM_006210.3(PEG3):c.1138A>G (p.Thr380Ala)not specified [RCV004159103]uncertain significance195681730456817304Humanname
156201391CV2313143single nucleotide variantNM_006210.3(PEG3):c.2870T>C (p.Phe957Ser)not specified [RCV004161406]uncertain significance195681557256815572Humanname
156290762CV2324934single nucleotide variantNM_006210.3(PEG3):c.1971C>G (p.Asn657Lys)not specified [RCV004175190]uncertain significance195681647156816471Humanname
156394966CV2328374single nucleotide variantNM_006210.3(PEG3):c.1805G>A (p.Arg602His)not specified [RCV004175487]uncertain significance195681663756816637Humanname
155966087CV2329761single nucleotide variantNM_006210.3(PEG3):c.1886G>A (p.Cys629Tyr)not specified [RCV004183234]uncertain significance195681655656816556Humanname
155923472CV2336843single nucleotide variantNM_006210.3(PEG3):c.1009C>T (p.Arg337Trp)not specified [RCV004190463]uncertain significance195681743356817433Humanname
155922488CV2350843single nucleotide variantNM_006210.3(PEG3):c.1810C>T (p.Arg604Cys)not specified [RCV004207170]uncertain significance195681663256816632Humanname
156015941CV2360359single nucleotide variantNM_006210.3(PEG3):c.1811G>A (p.Arg604His)not specified [RCV004208693]uncertain significance195681663156816631Humanname
156265539CV2372247single nucleotide variantNM_006210.3(PEG3):c.1741C>T (p.His581Tyr)not specified [RCV004217025]uncertain significance195681670156816701Humanname
156152641CV2377643single nucleotide variantNM_006210.3(PEG3):c.2749A>C (p.Lys917Gln)not specified [RCV004227822]uncertain significance195681569356815693Humanname
156091552CV2384731single nucleotide variantNM_006210.3(PEG3):c.2761G>A (p.Glu921Lys)not specified [RCV004232499]uncertain significance195681568156815681Humanname
156059584CV2391771single nucleotide variantNM_006210.3(PEG3):c.2939A>G (p.His980Arg)not specified [RCV004235653]likely benign195681550356815503Humanname
155909350CV2397728single nucleotide variantNM_006210.3(PEG3):c.2330C>T (p.Ser777Phe)not specified [RCV004237161]uncertain significance195681611256816112Humanname
329368680CV2428105single nucleotide variantNM_006210.3(PEG3):c.1108G>T (p.Ala370Ser)not specified [RCV004254478]uncertain significance195681733456817334Humanname
329376409CV2467559single nucleotide variantNM_006210.3(PEG3):c.1132A>C (p.Asn378His)not specified [RCV004287152]uncertain significance195681731056817310Humanname
401760944CV2695219single nucleotide variantNM_006210.3(PEG3):c.2456G>A (p.Arg819His)not specified [RCV004303356]likely benign195681598656815986Humanname
401758610CV2700637single nucleotide variantNM_006210.3(PEG3):c.2666G>A (p.Arg889His)not specified [RCV004313363]likely benign195681577656815776Humanname
401749821CV2719412single nucleotide variantNM_006210.3(PEG3):c.2201G>A (p.Ser734Asn)not specified [RCV004326819]uncertain significance195681624156816241Humanname
401879492CV2773127single nucleotide variantNM_006210.3(PEG3):c.2607T>A (p.Asn869Lys)not specified [RCV004351551]uncertain significance195681583556815835Humanname
401860817CV2776206single nucleotide variantNM_006210.3(PEG3):c.1010G>A (p.Arg337Gln)not specified [RCV004353286]likely benign195681743256817432Humanname
401943956CV2840312single nucleotide variantNM_006210.3(PEG3):c.1813G>A (p.Gly605Arg)not provided [RCV003457050]benign195681662956816629Humanname
405790368CV3372308single nucleotide variantNM_006210.3(PEG3):c.1183C>G (p.His395Asp)not specified [RCV004505727]uncertain significance195681725956817259Humanname
405790371CV3372309single nucleotide variantNM_006210.3(PEG3):c.1186T>G (p.Phe396Val)not specified [RCV004505728]uncertain significance195681725656817256Humanname
405790375CV3372310single nucleotide variantNM_006210.3(PEG3):c.1196A>G (p.Asp399Gly)not specified [RCV004505729]uncertain significance195681724656817246Humanname
405790381CV3372312single nucleotide variantNM_006210.3(PEG3):c.1303A>G (p.Ser435Gly)not specified [RCV004505731]uncertain significance195681713956817139Humanname
405790384CV3372313single nucleotide variantNM_006210.3(PEG3):c.1837G>A (p.Ala613Thr)not specified [RCV004505732]likely benign195681660556816605Humanname
405790388CV3372314single nucleotide variantNM_006210.3(PEG3):c.1909C>T (p.Leu637Phe)not specified [RCV004505733]uncertain significance195681653356816533Humanname
405790391CV3372315single nucleotide variantNM_006210.3(PEG3):c.2058C>G (p.Asp686Glu)not specified [RCV004505734]uncertain significance195681638456816384Humanname
405790394CV3372316single nucleotide variantNM_006210.3(PEG3):c.2219C>T (p.Pro740Leu)not specified [RCV004505735]uncertain significance195681622356816223Humanname
405790398CV3372317single nucleotide variantNM_006210.3(PEG3):c.2239G>A (p.Glu747Lys)not specified [RCV004505736]uncertain significance195681620356816203Humanname
405790401CV3372318single nucleotide variantNM_006210.3(PEG3):c.2468A>G (p.Asn823Ser)not specified [RCV004505737]likely benign195681597456815974Humanname
405790408CV3372320single nucleotide variantNM_006210.3(PEG3):c.2938C>T (p.His980Tyr)not specified [RCV004505739]uncertain significance195681550456815504Humanname
405790411CV3372321single nucleotide variantNM_006210.3(PEG3):c.2942G>A (p.Ser981Asn)not specified [RCV004505740]uncertain significance195681550056815500Humanname
407485078CV3470601single nucleotide variantNM_006210.3(PEG3):c.2906A>G (p.Tyr969Cys)not specified [RCV004659818]uncertain significance195681553656815536Humanname
407485085CV3470604single nucleotide variantNM_006210.3(PEG3):c.2878C>G (p.Gln960Glu)not specified [RCV004659819]uncertain significance195681556456815564Humanname
407484063CV3470608single nucleotide variantNM_006210.3(PEG3):c.1264A>T (p.Met422Leu)not specified [RCV004655682]uncertain significance195681717856817178Humanname
407484083CV3470610single nucleotide variantNM_006210.3(PEG3):c.2270A>G (p.Tyr757Cys)not specified [RCV004655684]uncertain significance195681617256816172Humanname
407484090CV3470611single nucleotide variantNM_006210.3(PEG3):c.1673G>T (p.Gly558Val)not specified [RCV004655685]uncertain significance195681676956816769Humanname
597722481CV3575537single nucleotide variantNM_006210.3(PEG3):c.1483G>A (p.Val495Ile)not specified [RCV004842029]uncertain significance195681695956816959Humanname
597722524CV3575540single nucleotide variantNM_006210.3(PEG3):c.2071C>T (p.Arg691Trp)not specified [RCV004842032]uncertain significance195681637156816371Humanname
597722563CV3575544single nucleotide variantNM_006210.3(PEG3):c.2949C>G (p.Asp983Glu)not specified [RCV004842035]uncertain significance195681549356815493Humanname
597722649CV3575550single nucleotide variantNM_006210.3(PEG3):c.1216G>A (p.Asp406Asn)not specified [RCV004842041]uncertain significance195681722656817226Humanname
597722663CV3575551single nucleotide variantNM_006210.3(PEG3):c.2440A>G (p.Asn814Asp)not specified [RCV004842042]uncertain significance195681600256816002Humanname
597766558CV3575554single nucleotide variantNM_006210.3(PEG3):c.1691A>T (p.Glu564Val)not specified [RCV004850292]uncertain significance195681675156816751Humanname
597722742CV3575559single nucleotide variantNM_006210.3(PEG3):c.2894G>A (p.Arg965Gln)not specified [RCV004842047]uncertain significance195681554856815548Humanname
598261352CV3999549single nucleotide variantNM_006210.3(PEG3):c.1792C>T (p.Arg598Cys)not specified [RCV005386875]uncertain significance195681665056816650Humanname
598261358CV3999550single nucleotide variantNM_006210.3(PEG3):c.2072G>A (p.Arg691Gln)not specified [RCV005386876]uncertain significance195681637056816370Humanname
598261379CV3999556single nucleotide variantNM_006210.3(PEG3):c.1714T>C (p.Phe572Leu)not specified [RCV005386880]uncertain significance195681672856816728Humanname
598261385CV3999557single nucleotide variantNM_006210.3(PEG3):c.1805G>T (p.Arg602Leu)not specified [RCV005386881]uncertain significance195681663756816637Humanname
598261407CV3999562single nucleotide variantNM_006210.3(PEG3):c.1670A>G (p.Tyr557Cys)not specified [RCV005386885]uncertain significance195681677256816772Humanname
598261414CV3999563single nucleotide variantNM_006210.3(PEG3):c.1536G>C (p.Glu512Asp)not specified [RCV005386886]uncertain significance195681690656816906Humanname
598196632CV3999564single nucleotide variantNM_006210.3(PEG3):c.2435C>G (p.Ala812Gly)not specified [RCV005397745]uncertain significance195681600756816007Humanname
598261419CV3999565single nucleotide variantNM_006210.3(PEG3):c.2202T>A (p.Ser734Arg)not specified [RCV005386887]uncertain significance195681624056816240Humanname
15192353CV705281single nucleotide variantNM_006210.3(PEG3):c.2390G>T (p.Ser797Ile)not provided [RCV000955045]benign195681605256816052Humanname
15128415CV716709single nucleotide variantNM_006210.3(PEG3):c.2515G>C (p.Val839Leu)not provided [RCV000964080]benign195681592756815927Humanname
15157561CV716710single nucleotide variantNM_006210.3(PEG3):c.2378T>C (p.Val793Ala)not provided [RCV000969329]benign195681606456816064Humanname
15166243CV716711single nucleotide variantNM_006210.3(PEG3):c.2092T>G (p.Ser698Ala)not provided [RCV000971132]benign195681635056816350Humanname
15175477CV716712single nucleotide variantNM_006210.3(PEG3):c.1787A>G (p.His596Arg)not provided [RCV000972958]benign195681665556816655Humanname
15166249CV716713single nucleotide variantNM_006210.3(PEG3):c.1597G>T (p.Val533Leu)not provided [RCV000971133]benign195681684556816845Humanname
15194684CV728426single nucleotide variantNM_006210.3(PEG3):c.1871A>G (p.Glu624Gly)not provided [RCV000889288]benign195681657156816571Humanname
8628427CV83571single nucleotide variantNM_006210.2(PEG3):c.2162C>T (p.Ser721Phe)Malignant melanoma [RCV000063652]not provided195681628056816280Humanname
153304931CV1687378single nucleotide variantNM_006210.3(PEG3):c.3058G>A (p.Ala1020Thr)not provided [RCV002263196]likely benign195681538456815384Humanname
156380891CV2218374single nucleotide variantNM_006210.3(PEG3):c.3713C>G (p.Ser1238Cys)not specified [RCV004088882]uncertain significance195681472956814729Humanname
155980919CV2233019single nucleotide variantNM_006210.3(PEG3):c.3872T>C (p.Phe1291Ser)not specified [RCV004103658]uncertain significance195681457056814570Humanname
156200132CV2237664single nucleotide variantNM_006210.3(PEG3):c.3707A>G (p.His1236Arg)not specified [RCV004106589]uncertain significance195681473556814735Humanname
156183110CV2243229single nucleotide variantNM_006210.3(PEG3):c.4748A>G (p.Gln1583Arg)not specified [RCV004110118]uncertain significance195681369456813694Humanname
156359218CV2261041single nucleotide variantNM_006210.3(PEG3):c.3410G>T (p.Ser1137Ile)not specified [RCV004127696]uncertain significance195681503256815032Humanname
156279579CV2285091single nucleotide variantNM_006210.3(PEG3):c.3625C>T (p.Arg1209Trp)not specified [RCV004145321]uncertain significance195681481756814817Humanname
156279595CV2285092single nucleotide variantNM_006210.3(PEG3):c.3680G>A (p.Cys1227Tyr)not specified [RCV004145322]uncertain significance195681476256814762Humanname
156065132CV2287285single nucleotide variantNM_006210.3(PEG3):c.4460T>C (p.Ile1487Thr)not specified [RCV004146920]uncertain significance195681398256813982Humanname
156084897CV2289763single nucleotide variantNM_006210.3(PEG3):c.4298T>C (p.Ile1433Thr)not specified [RCV004150448]uncertain significance195681414456814144Humanname
155931202CV2297262single nucleotide variantNM_006210.3(PEG3):c.3325T>A (p.Cys1109Ser)not specified [RCV004151139]uncertain significance195681511756815117Humanname
155905402CV2303101single nucleotide variantNM_006210.3(PEG3):c.3059C>T (p.Ala1020Val)not specified [RCV004156881]uncertain significance195681538356815383Humanname
156251849CV2311326single nucleotide variantNM_006210.3(PEG3):c.3217A>G (p.Thr1073Ala)not specified [RCV004166396]uncertain significance195681522556815225Humanname
156165280CV2330037single nucleotide variantNM_006210.3(PEG3):c.4301G>A (p.Gly1434Glu)not specified [RCV004185529]uncertain significance195681414156814141Humanname
155971280CV2334196single nucleotide variantNM_006210.3(PEG3):c.3440C>T (p.Thr1147Ile)not specified [RCV004186183]uncertain significance195681500256815002Humanname
155981771CV2337084single nucleotide variantNM_006210.3(PEG3):c.4634A>G (p.Tyr1545Cys)not specified [RCV004192848]uncertain significance195681380856813808Humanname
155977175CV2342860single nucleotide variantNM_006210.3(PEG3):c.4438G>A (p.Asp1480Asn)not specified [RCV004189895]uncertain significance195681400456814004Humanname
155977420CV2342889single nucleotide variantNM_006210.3(PEG3):c.4080A>T (p.Glu1360Asp)not specified [RCV004189923]likely benign195681436256814362Humanname
156383214CV2361458single nucleotide variantNM_006210.3(PEG3):c.3349G>A (p.Val1117Met)not specified [RCV004221099]uncertain significance195681509356815093Humanname
155993183CV2379391single nucleotide variantNM_006210.3(PEG3):c.4738G>A (p.Ala1580Thr)not specified [RCV004223845]uncertain significance195681370456813704Humanname
155908813CV2387449single nucleotide variantNM_006210.3(PEG3):c.3005A>G (p.Tyr1002Cys)not specified [RCV004240314]uncertain significance195681543756815437Humanname
329402882CV2451496single nucleotide variantNM_006210.3(PEG3):c.3279C>A (p.Asp1093Glu)not specified [RCV004272158]uncertain significance195681516356815163Humanname
401741203CV2713414single nucleotide variantNM_006210.3(PEG3):c.3724G>A (p.Glu1242Lys)not specified [RCV004319032]uncertain significance195681471856814718Humanname
401779477CV2718574single nucleotide variantNM_006210.3(PEG3):c.3548G>T (p.Arg1183Ile)not specified [RCV004318374]uncertain significance195681489456814894Humanname
401763794CV2725302single nucleotide variantNM_006210.3(PEG3):c.4676C>G (p.Ala1559Gly)not specified [RCV004319966]uncertain significance195681376656813766Humanname
401882327CV2793451single nucleotide variantNM_006210.3(PEG3):c.4624T>C (p.Cys1542Arg)not specified [RCV004362541]uncertain significance195681381856813818Humanname
401910808CV2818892single nucleotide variantNM_006210.3(PEG3):c.3310G>A (p.Asp1104Asn)PEG3-related disorder [RCV003954169]|not provided [RCV003425454]likely benign195681513256815132Humanname , trait , alternate_id
405258287CV3203212single nucleotide variantNM_006210.3(PEG3):c.3130G>A (p.Glu1044Lys)PEG3-related disorder [RCV003941814]likely benign195681531256815312Humanname , trait , alternate_id
405267951CV3219549single nucleotide variantNM_006210.3(PEG3):c.4450G>A (p.Gly1484Ser)PEG3-related disorder [RCV003969757]likely benign195681399256813992Humanname , trait , alternate_id
405790414CV3372322single nucleotide variantNM_006210.3(PEG3):c.3203C>T (p.Thr1068Ile)not specified [RCV004505741]likely benign195681523956815239Humanname
405790418CV3372323single nucleotide variantNM_006210.3(PEG3):c.3223A>G (p.Ser1075Gly)not specified [RCV004505742]likely benign195681521956815219Humanname
405790422CV3372324single nucleotide variantNM_006210.3(PEG3):c.3265A>G (p.Ile1089Val)not specified [RCV004505743]uncertain significance195681517756815177Humanname
405790429CV3372326single nucleotide variantNM_006210.3(PEG3):c.3320A>G (p.Tyr1107Cys)not specified [RCV004505745]uncertain significance195681512256815122Humanname
405790436CV3372328single nucleotide variantNM_006210.3(PEG3):c.4426G>C (p.Glu1476Gln)not specified [RCV004505747]uncertain significance195681401656814016Humanname
405790442CV3372330single nucleotide variantNM_006210.3(PEG3):c.4520G>C (p.Cys1507Ser)not specified [RCV004505749]uncertain significance195681392256813922Humanname
405790445CV3372331single nucleotide variantNM_006210.3(PEG3):c.4726C>T (p.Arg1576Cys)not specified [RCV004505750]uncertain significance195681371656813716Humanname
407484048CV3470602single nucleotide variantNM_006210.3(PEG3):c.3413G>A (p.Arg1138Gln)not specified [RCV004655680]uncertain significance195681502956815029Humanname
407485091CV3470605single nucleotide variantNM_006210.3(PEG3):c.4493T>C (p.Ile1498Thr)not specified [RCV004659820]uncertain significance195681394956813949Humanname
407485097CV3470606single nucleotide variantNM_006210.3(PEG3):c.3149A>G (p.Gln1050Arg)not specified [RCV004659821]uncertain significance195681529356815293Humanname
407485104CV3470607single nucleotide variantNM_006210.3(PEG3):c.3419A>T (p.Tyr1140Phe)not specified [RCV004659822]uncertain significance195681502356815023Humanname
597722457CV3575535single nucleotide variantNM_006210.3(PEG3):c.3014C>T (p.Ser1005Phe)not specified [RCV004842027]uncertain significance195681542856815428Humanname
597722469CV3575536single nucleotide variantNM_006210.3(PEG3):c.3880C>T (p.Pro1294Ser)not specified [RCV004842028]uncertain significance195681456256814562Humanname
597722495CV3575538single nucleotide variantNM_006210.3(PEG3):c.4136A>C (p.His1379Pro)not specified [RCV004842030]uncertain significance195681430656814306Humanname
597722550CV3575542single nucleotide variantNM_006210.3(PEG3):c.4441G>A (p.Glu1481Lys)not specified [RCV004842034]uncertain significance195681400156814001Humanname
597722577CV3575545single nucleotide variantNM_006210.3(PEG3):c.4616T>C (p.Phe1539Ser)not specified [RCV004842036]uncertain significance195681382656813826Humanname
597722608CV3575547single nucleotide variantNM_006210.3(PEG3):c.4082A>C (p.Asp1361Ala)not specified [RCV004842038]uncertain significance195681436056814360Humanname
597722620CV3575548single nucleotide variantNM_006210.3(PEG3):c.4085A>C (p.Glu1362Ala)not specified [RCV004842039]uncertain significance195681435756814357Humanname
597722697CV3575553single nucleotide variantNM_006210.3(PEG3):c.4082A>T (p.Asp1361Val)not specified [RCV004842044]uncertain significance195681436056814360Humanname
597766562CV3575556single nucleotide variantNM_006210.3(PEG3):c.4483G>A (p.Asp1495Asn)not specified [RCV004850293]uncertain significance195681395956813959Humanname
597722725CV3575557single nucleotide variantNM_006210.3(PEG3):c.3328G>A (p.Glu1110Lys)not specified [RCV004842046]likely benign195681511456815114Humanname
597766568CV3575558single nucleotide variantNM_006210.3(PEG3):c.3480G>C (p.Glu1160Asp)not specified [RCV004850294]uncertain significance195681496256814962Humanname
597722758CV3575560single nucleotide variantNM_006210.3(PEG3):c.3136C>T (p.Leu1046Phe)not specified [RCV004842048]uncertain significance195681530656815306Humanname
598261374CV3999554single nucleotide variantNM_006210.3(PEG3):c.3577A>C (p.Met1193Leu)not specified [RCV005386879]uncertain significance195681486556814865Humanname
598196617CV3999555single nucleotide variantNM_006210.3(PEG3):c.4759A>G (p.Thr1587Ala)not specified [RCV005397743]uncertain significance195681368356813683Humanname
598261391CV3999558single nucleotide variantNM_006210.3(PEG3):c.3068A>C (p.Gln1023Pro)not specified [RCV005386882]uncertain significance195681537456815374Humanname
598196623CV3999560single nucleotide variantNM_006210.3(PEG3):c.3022C>T (p.Arg1008Cys)not specified [RCV005397744]uncertain significance195681542056815420Humanname
15163137CV705278single nucleotide variantNM_006210.3(PEG3):c.4367C>T (p.Ala1456Val)not provided [RCV000948011]benign195681407556814075Humanname
15098053CV705279single nucleotide variantNM_006210.3(PEG3):c.4265C>G (p.Ala1422Gly)not provided [RCV000958463]likely benign195681417756814177Humanname
15157551CV716707single nucleotide variantNM_006210.3(PEG3):c.4506A>T (p.Glu1502Asp)not provided [RCV000969328]benign|likely benign195681393656813936Humanname
401929281CV2818891microsatelliteNM_006210.3(PEG3):c.4068AGA[6] (p.Glu1360_Asp1361insGlu)not provided [RCV003407140]likely benign195681435956814360Humanname
405272459CV3221695microsatelliteNM_006210.3(PEG3):c.4213GAAGTGGAGGCTGCTGAGCCA[1] (p.1398EVEAAEP[2])PEG3-related disorder [RCV003972145]likely benign195681418856814208Humanname , trait , alternate_id
15161471CV742136duplicationNM_006210.3(PEG3):c.4206_4226dup (p.Pro1418_Asn1419insGluValGluAlaAlaGluPro)not provided [RCV000903354]likely benign195681421556814216Humanname
15182644CV742139single nucleotide variantNM_001387356.1(ZIM2):c.348C>A (p.His116Gln)PEG3-related disorder [RCV003932927]|not provided [RCV000907873]likely benign195681864956818649Humantrait , alternate_id