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


212 records found for search term Znfx1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
404982301CV2849005single nucleotide variantNM_021035.3(ZNFX1):c.61+46A>Gnot specified [RCV003488877]benign204927573349275733Humanname
401933795CV2799547single nucleotide variantNM_021035.3(ZNFX1):c.2151+4A>GZNFX1-related disorder [RCV004552605]uncertain significance204926471249264712Humanname , trait , alternate_id
404982292CV2849004single nucleotide variantNM_021035.3(ZNFX1):c.2804+18T>Cnot specified [RCV003488876]benign204925579049255790Humanname
404982585CV2849063single nucleotide variantNM_021035.3(ZNFX1):c.1871-90A>Tnot specified [RCV003488935]benign204926635649266356Humanname
404983435CV2849271single nucleotide variantNM_021035.3(ZNFX1):c.2805-11C>Gnot specified [RCV003489143]benign204925466049254660Humanname
243062506CV2404952single nucleotide variantNM_021035.3(ZNFX1):c.2003-121C>TImmunodeficiency 91 and hyperinflammation [RCV003140502]uncertain significance204926498549264985Human1name
405270792CV3212102deletionNM_021035.3(ZNFX1):c.3313-2_3313-1delZNFX1-related disorder [RCV004552786]likely pathogenic204924971249249713Humanname , trait , alternate_id
407487172CV3420882single nucleotide variantNM_021035.3(ZNFX1):c.49A>G (p.Thr17Ala)Inborn genetic diseases [RCV004603712]uncertain significance204927579149275791Human1name
15192615CV773151single nucleotide variantNM_021035.3(ZNFX1):c.954C>T (p.Thr318=)not provided [RCV000933131]likely benign204927085849270858Humanname
155917334CV2202335single nucleotide variantNM_021035.3(ZNFX1):c.184G>A (p.Ala62Thr)Inborn genetic diseases [RCV002682330]uncertain significance204927162849271628Human1name
401930474CV2824475single nucleotide variantNM_021035.3(ZNFX1):c.253G>A (p.Glu85Lys)Inborn genetic diseases [RCV004364579]|not provided [RCV003440436]likely benign|uncertain significance204927155949271559Human1name
404982182CV2848982single nucleotide variantNM_021035.3(ZNFX1):c.1665C>T (p.Tyr555=)not specified [RCV003488854]benign204927014749270147Humanname
404983440CV2849272single nucleotide variantNM_021035.3(ZNFX1):c.2613T>C (p.His871=)not specified [RCV003489144]benign204925746849257468Human1name
405674933CV3358744single nucleotide variantNM_021035.3(ZNFX1):c.229C>A (p.Pro77Thr)Inborn genetic diseases [RCV004487416]uncertain significance204927158349271583Human1name
407487190CV3420887single nucleotide variantNM_021035.3(ZNFX1):c.232C>T (p.His78Tyr)Inborn genetic diseases [RCV004603717]uncertain significance204927158049271580Human1name
597626367CV3636428single nucleotide variantNM_021035.3(ZNFX1):c.271G>A (p.Glu91Lys)Inborn genetic diseases [RCV004965051]uncertain significance204927154149271541Human1name
597626402CV3636443single nucleotide variantNM_021035.3(ZNFX1):c.229C>G (p.Pro77Ala)Inborn genetic diseases [RCV004965066]uncertain significance204927158349271583Human1name
598224382CV3894121single nucleotide variantNM_021035.3(ZNFX1):c.1551C>T (p.His517=)not provided [RCV005257364]likely benign204927026149270261Humanname
15189535CV728712single nucleotide variantNM_021035.3(ZNFX1):c.2640G>A (p.Gln880=)ZNFX1-related disorder [RCV004550056]|not provided [RCV000887847]benign|likely benign204925744149257441Human1name , trait , alternate_id
8637356CV92582single nucleotide variantNM_021035.2(ZNFX1):c.2550G>A (p.Lys850=)Malignant melanoma [RCV000072680]not provided204925753149257531Humanname
151234270CV1318129single nucleotide variantNM_021035.3(ZNFX1):c.397A>T (p.Lys133Ter)Immunodeficiency 91 and hyperinflammation [RCV001789747]pathogenic204927141549271415Human1name
156152189CV2194215single nucleotide variantNM_021035.3(ZNFX1):c.938C>T (p.Thr313Ile)Inborn genetic diseases [RCV002641929]uncertain significance204927087449270874Human1name
156059240CV2239319single nucleotide variantNM_021035.3(ZNFX1):c.904A>G (p.Ile302Val)Inborn genetic diseases [RCV002782499]uncertain significance204927090849270908Human1name
156083183CV2293014single nucleotide variantNM_021035.3(ZNFX1):c.986A>G (p.His329Arg)Inborn genetic diseases [RCV002869382]uncertain significance204927082649270826Human1name
156167146CV2373659single nucleotide variantNM_021035.3(ZNFX1):c.606G>C (p.Gln202His)Inborn genetic diseases [RCV002698611]uncertain significance204927120649271206Human1name
329358826CV2425397single nucleotide variantNM_021035.3(ZNFX1):c.383G>A (p.Arg128Gln)Inborn genetic diseases [RCV003179119]uncertain significance204927142949271429Human1name
401771755CV2711882single nucleotide variantNM_021035.3(ZNFX1):c.710G>A (p.Arg237Gln)Inborn genetic diseases [RCV003261592]uncertain significance204927110249271102Human1name
401828928CV2747157single nucleotide variantNM_021035.3(ZNFX1):c.872C>T (p.Thr291Met)Immunodeficiency 91 and hyperinflammation [RCV003328516]uncertain significance204927094049270940Human1name
401933329CV2804025single nucleotide variantNM_021035.3(ZNFX1):c.452G>A (p.Ser151Asn)Inborn genetic diseases [RCV004963640]|ZNFX1-related disorder [RCV004552529]uncertain significance204927136049271360Human2name , trait , alternate_id
401930473CV2824474single nucleotide variantNM_021035.3(ZNFX1):c.3537C>A (p.Val1179=)ZNFX1-related disorder [RCV004554205]|not provided [RCV003440435]likely benign204924948749249487Human1name , trait , alternate_id
404982074CV2848980single nucleotide variantNM_021035.3(ZNFX1):c.4189C>T (p.Leu1397=)not specified [RCV003488852]benign204924883549248835Humanname
405283041CV3191225single nucleotide variantNM_021035.3(ZNFX1):c.4164C>T (p.His1388=)ZNFX1-related disorder [RCV004550923]likely benign204924886049248860Humanname , trait , alternate_id
405274983CV3204528single nucleotide variantNM_021035.3(ZNFX1):c.3312G>A (p.Lys1104=)ZNFX1-related disorder [RCV004552812]likely benign204925152749251527Humanname , trait , alternate_id
405281428CV3206723single nucleotide variantNM_021035.3(ZNFX1):c.4221G>A (p.Lys1407=)ZNFX1-related disorder [RCV004550953]likely benign204924880349248803Humanname , trait , alternate_id
405271652CV3209525single nucleotide variantNM_021035.3(ZNFX1):c.3498C>T (p.Cys1166=)ZNFX1-related disorder [RCV004552804]|not provided [RCV005426283]likely benign204924952649249526Human1name , trait , alternate_id
405674975CV3358753single nucleotide variantNM_021035.3(ZNFX1):c.344G>A (p.Arg115His)Inborn genetic diseases [RCV004487425]likely benign204927146849271468Human1name
405675060CV3358775single nucleotide variantNM_021035.3(ZNFX1):c.676G>A (p.Val226Ile)Inborn genetic diseases [RCV004487447]uncertain significance204927113649271136Human1name
405675063CV3358776single nucleotide variantNM_021035.3(ZNFX1):c.842G>A (p.Arg281Lys)Inborn genetic diseases [RCV004487448]uncertain significance204927097049270970Human1name
405675067CV3358777single nucleotide variantNM_021035.3(ZNFX1):c.895C>A (p.Gln299Lys)Inborn genetic diseases [RCV004487449]uncertain significance204927091749270917Human1name
405675072CV3358778single nucleotide variantNM_021035.3(ZNFX1):c.895C>G (p.Gln299Glu)Inborn genetic diseases [RCV004487450]uncertain significance204927091749270917Human1name
405675077CV3358779single nucleotide variantNM_021035.3(ZNFX1):c.935G>T (p.Gly312Val)Inborn genetic diseases [RCV004487451]uncertain significance204927087749270877Human1name
407487155CV3420876single nucleotide variantNM_021035.3(ZNFX1):c.575G>A (p.Arg192Gln)Inborn genetic diseases [RCV004603707]uncertain significance204927123749271237Human1name
407487164CV3420880single nucleotide variantNM_021035.3(ZNFX1):c.680G>C (p.Gly227Ala)Inborn genetic diseases [RCV004603710]uncertain significance204927113249271132Human1name
407487186CV3420886single nucleotide variantNM_021035.3(ZNFX1):c.501T>G (p.Ser167Arg)Inborn genetic diseases [RCV004603716]uncertain significance204927131149271311Human1name
407487199CV3420889single nucleotide variantNM_021035.3(ZNFX1):c.382C>T (p.Arg128Trp)Inborn genetic diseases [RCV004603719]uncertain significance204927143049271430Human1name
596947474CV3549030single nucleotide variantNM_021035.3(ZNFX1):c.4848G>A (p.Leu1616=)not provided [RCV004811354]likely benign204924817649248176Humanname
597626374CV3636431single nucleotide variantNM_021035.3(ZNFX1):c.602G>A (p.Arg201His)Inborn genetic diseases [RCV004965054]uncertain significance204927121049271210Human1name
597626394CV3636439single nucleotide variantNM_021035.3(ZNFX1):c.526C>T (p.His176Tyr)Inborn genetic diseases [RCV004965062]uncertain significance204927128649271286Human1name
597626407CV3636446single nucleotide variantNM_021035.3(ZNFX1):c.844G>C (p.Ala282Pro)Inborn genetic diseases [RCV004965069]uncertain significance204927096849270968Human1name
597626410CV3636447single nucleotide variantNM_021035.3(ZNFX1):c.848C>T (p.Ser283Phe)Inborn genetic diseases [RCV004965070]uncertain significance204927096449270964Human1name
15173503CV728711single nucleotide variantNM_021035.3(ZNFX1):c.3717G>A (p.Lys1239=)ZNFX1-related disorder [RCV004550023]|not provided [RCV000884026]benign|likely benign204924930749249307Human1name , trait , alternate_id
15106925CV757586single nucleotide variantNM_021035.3(ZNFX1):c.4005T>C (p.Leu1335=)ZNFX1-related disorder [RCV004551816]|not provided [RCV000915851]likely benign204924901949249019Human1name , trait , alternate_id
151234266CV1318125single nucleotide variantNM_021035.3(ZNFX1):c.2876C>G (p.Ser959Ter)Immunodeficiency 91 and hyperinflammation [RCV001789743]pathogenic204925457849254578Human1name
153349684CV1693814single nucleotide variantNM_021035.3(ZNFX1):c.2793G>A (p.Trp931Ter)not provided [RCV002276101]pathogenic204925581949255819Humanname
156410797CV1882765single nucleotide variantNM_021035.3(ZNFX1):c.1474C>T (p.Gln492Ter)not provided [RCV003072213]pathogenic204927033849270338Humanname
156171391CV2198010single nucleotide variantNM_021035.3(ZNFX1):c.1711C>G (p.Leu571Val)Inborn genetic diseases [RCV002664747]uncertain significance204927010149270101Human1name
156379493CV2217892single nucleotide variantNM_021035.3(ZNFX1):c.2920A>G (p.Ile974Val)Inborn genetic diseases [RCV002678422]uncertain significance204925453449254534Human1name
156316600CV2250932single nucleotide variantNM_021035.3(ZNFX1):c.2446G>A (p.Gly816Arg)Inborn genetic diseases [RCV002809592]uncertain significance204925763549257635Human1name
156035905CV2253246single nucleotide variantNM_021035.3(ZNFX1):c.1498T>A (p.Ser500Thr)Inborn genetic diseases [RCV002821394]uncertain significance204927031449270314Human1name
156145402CV2265049single nucleotide variantNM_021035.3(ZNFX1):c.2285T>C (p.Met762Thr)Inborn genetic diseases [RCV002826461]uncertain significance204926335049263350Human1name
155923220CV2280253single nucleotide variantNM_021035.3(ZNFX1):c.1420C>G (p.Gln474Glu)Inborn genetic diseases [RCV002859958]uncertain significance204927039249270392Human1name
156071002CV2289678single nucleotide variantNM_021035.3(ZNFX1):c.2113C>T (p.Arg705Cys)Inborn genetic diseases [RCV002886884]uncertain significance204926475449264754Human1name
156089276CV2295579single nucleotide variantNM_021035.3(ZNFX1):c.2696A>G (p.Lys899Arg)Inborn genetic diseases [RCV002887915]uncertain significance204925591649255916Human1name
156269612CV2305900single nucleotide variantNM_021035.3(ZNFX1):c.2837G>A (p.Arg946His)Inborn genetic diseases [RCV002921015]uncertain significance204925461749254617Human1name
156288294CV2327400single nucleotide variantNM_021035.3(ZNFX1):c.2731A>G (p.Met911Val)Inborn genetic diseases [RCV002935408]uncertain significance204925588149255881Human1name
155984358CV2344409single nucleotide variantNM_021035.3(ZNFX1):c.1564C>T (p.Leu522Phe)Inborn genetic diseases [RCV002974138]uncertain significance204927024849270248Human1name
156344510CV2346091single nucleotide variantNM_021035.3(ZNFX1):c.1403C>T (p.Thr468Ile)Inborn genetic diseases [RCV002965713]uncertain significance204927040949270409Human1name
156147675CV2358029single nucleotide variantNM_021035.3(ZNFX1):c.2241G>T (p.Gln747His)Inborn genetic diseases [RCV003004355]uncertain significance204926339449263394Human1name
156304459CV2359635single nucleotide variantNM_021035.3(ZNFX1):c.2708A>T (p.Asp903Val)Inborn genetic diseases [RCV003010583]likely benign204925590449255904Human1name
156103200CV2386889single nucleotide variantNM_021035.3(ZNFX1):c.1099A>G (p.Ile367Val)Inborn genetic diseases [RCV002739235]|ZNFX1-related disorder [RCV004553984]likely benign204927071349270713Human2name , trait , alternate_id
329383345CV2445773single nucleotide variantNM_021035.3(ZNFX1):c.2110C>T (p.Arg704Cys)Inborn genetic diseases [RCV003176182]uncertain significance204926475749264757Human1name
329382490CV2449022single nucleotide variantNM_021035.3(ZNFX1):c.1282T>C (p.Tyr428His)Inborn genetic diseases [RCV003176013]uncertain significance204927053049270530Human1name
329358272CV2450246single nucleotide variantNM_021035.3(ZNFX1):c.2921T>C (p.Ile974Thr)Inborn genetic diseases [RCV003203974]uncertain significance204925453349254533Human1name
329390686CV2455374single nucleotide variantNM_021035.3(ZNFX1):c.1322G>A (p.Arg441His)Inborn genetic diseases [RCV003216929]uncertain significance204927049049270490Human1name
329397792CV2466345single nucleotide variantNM_021035.3(ZNFX1):c.1067A>G (p.Asn356Ser)Inborn genetic diseases [RCV003195753]uncertain significance204927074549270745Human1name
401749485CV2694659single nucleotide variantNM_021035.3(ZNFX1):c.1516G>A (p.Val506Ile)Inborn genetic diseases [RCV003253334]uncertain significance204927029649270296Human1name
401738129CV2700993single nucleotide variantNM_021035.3(ZNFX1):c.2543G>A (p.Arg848Gln)Inborn genetic diseases [RCV003291776]uncertain significance204925753849257538Human1name
401720396CV2705868single nucleotide variantNM_021035.3(ZNFX1):c.2716C>T (p.Arg906Cys)Inborn genetic diseases [RCV003267191]uncertain significance204925589649255896Human1name
401763421CV2714548single nucleotide variantNM_021035.3(ZNFX1):c.1567C>G (p.Gln523Glu)Inborn genetic diseases [RCV003258204]uncertain significance204927024549270245Human1name
401860007CV2765433single nucleotide variantNM_021035.3(ZNFX1):c.1078G>C (p.Gly360Arg)Inborn genetic diseases [RCV003342100]uncertain significance204927073449270734Human1name
401897883CV2773092single nucleotide variantNM_021035.3(ZNFX1):c.2860C>T (p.Arg954Cys)Inborn genetic diseases [RCV003376030]uncertain significance204925459449254594Human1name
404982027CV2849010single nucleotide variantNM_021035.3(ZNFX1):c.2772G>C (p.Gln924His)not specified [RCV003488882]benign204925584049255840Humanname
405674905CV3358737single nucleotide variantNM_021035.3(ZNFX1):c.1427A>G (p.Asp476Gly)Inborn genetic diseases [RCV004487409]uncertain significance204927038549270385Human1name
405674909CV3358738single nucleotide variantNM_021035.3(ZNFX1):c.1442T>C (p.Ile481Thr)Inborn genetic diseases [RCV004487410]uncertain significance204927037049270370Human1name
405674913CV3358739single nucleotide variantNM_021035.3(ZNFX1):c.1471C>G (p.Gln491Glu)Inborn genetic diseases [RCV004487411]uncertain significance204927034149270341Human1name
405674917CV3358740single nucleotide variantNM_021035.3(ZNFX1):c.1503C>G (p.Asp501Glu)Inborn genetic diseases [RCV004487412]uncertain significance204927030949270309Human1name
405674922CV3358741single nucleotide variantNM_021035.3(ZNFX1):c.1508T>A (p.Phe503Tyr)Inborn genetic diseases [RCV004487413]uncertain significance204927030449270304Human1name
405674926CV3358742single nucleotide variantNM_021035.3(ZNFX1):c.1759C>T (p.Pro587Ser)Inborn genetic diseases [RCV004487414]uncertain significance204927005349270053Human1name
405674929CV3358743single nucleotide variantNM_021035.3(ZNFX1):c.2284A>C (p.Met762Leu)Inborn genetic diseases [RCV004487415]uncertain significance204926335149263351Human1name
405674938CV3358745single nucleotide variantNM_021035.3(ZNFX1):c.2441A>G (p.Glu814Gly)Inborn genetic diseases [RCV004487417]uncertain significance204925764049257640Human1name
405674942CV3358746single nucleotide variantNM_021035.3(ZNFX1):c.2497C>G (p.Gln833Glu)Inborn genetic diseases [RCV004487418]uncertain significance204925758449257584Human1name
405674948CV3358747single nucleotide variantNM_021035.3(ZNFX1):c.2566G>A (p.Ala856Thr)Inborn genetic diseases [RCV004487419]uncertain significance204925751549257515Human1name
405674952CV3358748single nucleotide variantNM_021035.3(ZNFX1):c.2608G>A (p.Asp870Asn)Inborn genetic diseases [RCV004487420]uncertain significance204925747349257473Human1name
405674958CV3358749single nucleotide variantNM_021035.3(ZNFX1):c.2840G>A (p.Arg947Gln)Inborn genetic diseases [RCV004487421]uncertain significance204925461449254614Human1name
405674961CV3358750single nucleotide variantNM_021035.3(ZNFX1):c.2855A>G (p.Tyr952Cys)Inborn genetic diseases [RCV004487422]uncertain significance204925459949254599Human1name
407487169CV3420881single nucleotide variantNM_021035.3(ZNFX1):c.2722C>A (p.Leu908Met)Inborn genetic diseases [RCV004603711]uncertain significance204925589049255890Human1name
407487179CV3420884single nucleotide variantNM_021035.3(ZNFX1):c.2870G>A (p.Arg957His)Inborn genetic diseases [RCV004603714]uncertain significance204925458449254584Human1name
407487183CV3420885single nucleotide variantNM_021035.3(ZNFX1):c.2111G>A (p.Arg704His)Inborn genetic diseases [RCV004603715]uncertain significance204926475649264756Human1name
408393555CV3519847single nucleotide variantNM_021035.3(ZNFX1):c.2975G>A (p.Arg992His)not provided [RCV004764143]uncertain significance204925379649253796Humanname
597626358CV3636424single nucleotide variantNM_021035.3(ZNFX1):c.1653G>C (p.Met551Ile)Inborn genetic diseases [RCV004965047]|not provided [RCV005244093]likely benign|uncertain significance204927015949270159Human1name
597626370CV3636429single nucleotide variantNM_021035.3(ZNFX1):c.1572G>C (p.Glu524Asp)Inborn genetic diseases [RCV004965052]uncertain significance204927024049270240Human1name
597626381CV3636434single nucleotide variantNM_021035.3(ZNFX1):c.2558A>G (p.Glu853Gly)Inborn genetic diseases [RCV004965057]uncertain significance204925752349257523Human1name
597626384CV3636435single nucleotide variantNM_021035.3(ZNFX1):c.2324A>G (p.Gln775Arg)Inborn genetic diseases [RCV004965058]uncertain significance204926055549260555Human1name
597626388CV3636437single nucleotide variantNM_021035.3(ZNFX1):c.2288A>C (p.Asn763Thr)Inborn genetic diseases [RCV004965060]uncertain significance204926334749263347Human1name
597626395CV3636440single nucleotide variantNM_021035.3(ZNFX1):c.2097C>A (p.Asn699Lys)Inborn genetic diseases [RCV004965063]uncertain significance204926477049264770Human1name
597626403CV3636444single nucleotide variantNM_021035.3(ZNFX1):c.2234G>A (p.Arg745Gln)Inborn genetic diseases [RCV004965067]uncertain significance204926340149263401Human1name
598225166CV3892316single nucleotide variantNM_021035.3(ZNFX1):c.1997T>A (p.Leu666Gln)Immunodeficiency 91 and hyperinflammation [RCV005254151]uncertain significance204926614049266140Human1name
598273624CV3941998single nucleotide variantNM_021035.3(ZNFX1):c.2574G>C (p.Gln858His)Inborn genetic diseases [RCV005303422]uncertain significance204925750749257507Human1name
598273627CV3942001single nucleotide variantNM_021035.3(ZNFX1):c.1087G>A (p.Asp363Asn)Inborn genetic diseases [RCV005303424]uncertain significance204927072549270725Human1name
598200245CV3942003single nucleotide variantNM_021035.3(ZNFX1):c.1211A>G (p.Lys404Arg)Inborn genetic diseases [RCV005314027]uncertain significance204927060149270601Human1name
598273631CV3942004single nucleotide variantNM_021035.3(ZNFX1):c.2293C>G (p.Pro765Ala)Inborn genetic diseases [RCV005303426]uncertain significance204926334249263342Human1name
598273635CV3942005single nucleotide variantNM_021035.3(ZNFX1):c.1322G>C (p.Arg441Pro)Inborn genetic diseases [RCV005303427]uncertain significance204927049049270490Human1name
598273636CV3942007single nucleotide variantNM_021035.3(ZNFX1):c.1110T>G (p.Asp370Glu)Inborn genetic diseases [RCV005303428]uncertain significance204927070249270702Human1name
598200258CV3942011single nucleotide variantNM_021035.3(ZNFX1):c.1694C>T (p.Ser565Leu)Inborn genetic diseases [RCV005314030]uncertain significance204927011849270118Human1name
15113006CV728713single nucleotide variantNM_021035.3(ZNFX1):c.1181G>A (p.Ser394Asn)ZNFX1-related disorder [RCV004551679]|not provided [RCV000894579]benign|likely benign204927063149270631Human1name , trait , alternate_id
28907651CV860647deletionNM_021035.3(ZNFX1):c.5395del (p.Cys1799fs)not provided [RCV001093359]uncertain significance204924762949247629Humanname
156080590CV2195357single nucleotide variantNM_021035.3(ZNFX1):c.5348G>T (p.Ser1783Ile)Inborn genetic diseases [RCV002660767]uncertain significance204924767649247676Human1name
156080608CV2195358single nucleotide variantNM_021035.3(ZNFX1):c.5350A>T (p.Ile1784Leu)Inborn genetic diseases [RCV002660768]uncertain significance204924767449247674Human1name
156223982CV2219256single nucleotide variantNM_021035.3(ZNFX1):c.4550G>A (p.Arg1517His)Inborn genetic diseases [RCV002712314]uncertain significance204924847449248474Human1name
156074105CV2230040single nucleotide variantNM_021035.3(ZNFX1):c.5234G>A (p.Arg1745His)Inborn genetic diseases [RCV002737532]uncertain significance204924779049247790Human1name
155917244CV2236508single nucleotide variantNM_021035.3(ZNFX1):c.4531G>T (p.Val1511Leu)Inborn genetic diseases [RCV002772475]uncertain significance204924849349248493Human1name
156061169CV2239967single nucleotide variantNM_021035.3(ZNFX1):c.4183G>A (p.Val1395Met)Inborn genetic diseases [RCV002782612]uncertain significance204924884149248841Human1name
156097014CV2253155single nucleotide variantNM_021035.3(ZNFX1):c.5185A>G (p.Arg1729Gly)Inborn genetic diseases [RCV002798879]uncertain significance204924783949247839Human1name
156142266CV2257265single nucleotide variantNM_021035.3(ZNFX1):c.3202C>T (p.Arg1068Cys)Inborn genetic diseases [RCV002826272]uncertain significance204925273449252734Human1name
156256192CV2264785single nucleotide variantNM_021035.3(ZNFX1):c.3172C>T (p.Arg1058Trp)Inborn genetic diseases [RCV002831421]uncertain significance204925276449252764Human1name
156011453CV2291144single nucleotide variantNM_021035.3(ZNFX1):c.3910C>T (p.Arg1304Cys)Inborn genetic diseases [RCV002884146]uncertain significance204924911449249114Human1name
155967954CV2329982single nucleotide variantNM_021035.3(ZNFX1):c.4255G>A (p.Val1419Met)Inborn genetic diseases [RCV002945529]uncertain significance204924876949248769Human1name
156202972CV2334825single nucleotide variantNM_021035.3(ZNFX1):c.4916G>A (p.Arg1639Gln)Inborn genetic diseases [RCV002931708]likely benign204924810849248108Human1name
156286678CV2334957single nucleotide variantNM_021035.3(ZNFX1):c.5742C>G (p.Ile1914Met)Inborn genetic diseases [RCV002961307]uncertain significance204924728249247282Human1name
155989424CV2352209single nucleotide variantNM_021035.3(ZNFX1):c.4750C>T (p.Arg1584Cys)Inborn genetic diseases [RCV002974558]uncertain significance204924827449248274Human1name
155932280CV2399991single nucleotide variantNM_021035.3(ZNFX1):c.5415T>G (p.Asp1805Glu)Inborn genetic diseases [RCV002774475]uncertain significance204924760949247609Human1name
156196802CV2400667single nucleotide variantNM_021035.3(ZNFX1):c.3782G>A (p.Arg1261Gln)Inborn genetic diseases [RCV002789515]likely benign204924924249249242Human1name
243063794CV2405253single nucleotide variantNM_021035.3(ZNFX1):c.3557A>G (p.Lys1186Arg)Immunodeficiency 91 and hyperinflammation [RCV003142386]uncertain significance204924946749249467Human1name
329375616CV2431584single nucleotide variantNM_021035.3(ZNFX1):c.4240G>C (p.Val1414Leu)Inborn genetic diseases [RCV003173887]uncertain significance204924878449248784Human1name
329365946CV2441253single nucleotide variantNM_021035.3(ZNFX1):c.3326A>G (p.Asn1109Ser)Inborn genetic diseases [RCV003207479]uncertain significance204924969849249698Human1name
329352066CV2451972single nucleotide variantNM_021035.3(ZNFX1):c.5327C>T (p.Ala1776Val)Inborn genetic diseases [RCV003200244]uncertain significance204924769749247697Human1name
329363521CV2471715single nucleotide variantNM_021035.3(ZNFX1):c.3250A>G (p.Thr1084Ala)Inborn genetic diseases [RCV003206434]uncertain significance204925158949251589Human1name
401728572CV2672975single nucleotide variantNM_021035.3(ZNFX1):c.3535G>A (p.Val1179Ile)Inborn genetic diseases [RCV003247517]uncertain significance204924948949249489Human1name
401768583CV2675470single nucleotide variantNM_021035.3(ZNFX1):c.5315G>A (p.Arg1772His)Inborn genetic diseases [RCV003260190]uncertain significance204924770949247709Human1name
401759073CV2712393single nucleotide variantNM_021035.3(ZNFX1):c.5552A>G (p.Asn1851Ser)Inborn genetic diseases [RCV003299080]uncertain significance204924747249247472Human1name
401772381CV2712698single nucleotide variantNM_021035.3(ZNFX1):c.4370T>G (p.Phe1457Cys)Inborn genetic diseases [RCV003261825]uncertain significance204924865449248654Human1name
401763890CV2725346single nucleotide variantNM_021035.3(ZNFX1):c.5705C>T (p.Ser1902Phe)Inborn genetic diseases [RCV003258369]uncertain significance204924731949247319Human1name
401773863CV2727656single nucleotide variantNM_021035.3(ZNFX1):c.3113C>G (p.Pro1038Arg)Inborn genetic diseases [RCV003305108]uncertain significance204925282349252823Human1name
401828927CV2747156single nucleotide variantNM_021035.3(ZNFX1):c.4880G>A (p.Arg1627His)Immunodeficiency 91 and hyperinflammation [RCV003328515]uncertain significance204924814449248144Human1name
401855319CV2757233single nucleotide variantNM_021035.3(ZNFX1):c.4238C>T (p.Pro1413Leu)Inborn genetic diseases [RCV003339320]uncertain significance204924878649248786Human1name
401861232CV2758815single nucleotide variantNM_021035.3(ZNFX1):c.4105G>T (p.Asp1369Tyr)Inborn genetic diseases [RCV003342520]uncertain significance204924891949248919Human1name
401863805CV2770839single nucleotide variantNM_021035.3(ZNFX1):c.3110G>A (p.Arg1037His)Inborn genetic diseases [RCV003359129]uncertain significance204925282649252826Human1name
401874565CV2781049single nucleotide variantNM_021035.3(ZNFX1):c.5479A>G (p.Ile1827Val)Inborn genetic diseases [RCV003362302]uncertain significance204924754549247545Human1name
401875949CV2789243single nucleotide variantNM_021035.3(ZNFX1):c.5137G>A (p.Ala1713Thr)Inborn genetic diseases [RCV003383243]uncertain significance204924788749247887Human1name
401892928CV2791943single nucleotide variantNM_021035.3(ZNFX1):c.3995G>A (p.Arg1332Gln)Inborn genetic diseases [RCV003370442]uncertain significance204924902949249029Human1name
401866861CV2792545single nucleotide variantNM_021035.3(ZNFX1):c.3256C>A (p.His1086Asn)Inborn genetic diseases [RCV003379798]uncertain significance204925158349251583Human1name
404982000CV2849003single nucleotide variantNM_021035.3(ZNFX1):c.4052C>T (p.Thr1351Ile)not specified [RCV003488875]benign204924897249248972Humanname
404983429CV2849270single nucleotide variantNM_021035.3(ZNFX1):c.3777G>A (p.Met1259Ile)not specified [RCV003489142]benign204924924749249247Human1name
405692463CV3227635single nucleotide variantNM_021035.3(ZNFX1):c.3469C>G (p.Leu1157Val)Immunodeficiency 91 and hyperinflammation [RCV003991981]uncertain significance204924955549249555Human1name
405674966CV3358751single nucleotide variantNM_021035.3(ZNFX1):c.3047C>T (p.Thr1016Ile)Inborn genetic diseases [RCV004487423]uncertain significance204925372449253724Human1name
405674971CV3358752single nucleotide variantNM_021035.3(ZNFX1):c.3292C>A (p.Leu1098Ile)Inborn genetic diseases [RCV004487424]uncertain significance204925154749251547Human1name
405674987CV3358756single nucleotide variantNM_021035.3(ZNFX1):c.3580A>G (p.Ile1194Val)Inborn genetic diseases [RCV004487428]uncertain significance204924944449249444Human1name
405674991CV3358757single nucleotide variantNM_021035.3(ZNFX1):c.3593C>G (p.Ser1198Trp)Inborn genetic diseases [RCV004487429]uncertain significance204924943149249431Human1name
405674994CV3358758single nucleotide variantNM_021035.3(ZNFX1):c.3877G>A (p.Glu1293Lys)Inborn genetic diseases [RCV004487430]uncertain significance204924914749249147Human1name
405674998CV3358759single nucleotide variantNM_021035.3(ZNFX1):c.4003C>T (p.Leu1335Phe)Inborn genetic diseases [RCV004487431]uncertain significance204924902149249021Human1name
405675002CV3358760single nucleotide variantNM_021035.3(ZNFX1):c.4006G>C (p.Val1336Leu)Inborn genetic diseases [RCV004487432]uncertain significance204924901849249018Human1name
405675005CV3358761single nucleotide variantNM_021035.3(ZNFX1):c.4207A>C (p.Thr1403Pro)Inborn genetic diseases [RCV004487433]uncertain significance204924881749248817Human1name
405675009CV3358762single nucleotide variantNM_021035.3(ZNFX1):c.4523G>A (p.Ser1508Asn)Inborn genetic diseases [RCV004487434]uncertain significance204924850149248501Human1name
405675013CV3358763single nucleotide variantNM_021035.3(ZNFX1):c.4610A>G (p.Tyr1537Cys)Inborn genetic diseases [RCV004487435]uncertain significance204924841449248414Human1name
405675016CV3358764single nucleotide variantNM_021035.3(ZNFX1):c.4699A>G (p.Met1567Val)Inborn genetic diseases [RCV004487436]uncertain significance204924832549248325Human1name
405675021CV3358765single nucleotide variantNM_021035.3(ZNFX1):c.4804C>T (p.Arg1602Cys)Inborn genetic diseases [RCV004487437]uncertain significance204924822049248220Human1name
405675024CV3358766single nucleotide variantNM_021035.3(ZNFX1):c.4805G>A (p.Arg1602His)Inborn genetic diseases [RCV004487438]uncertain significance204924821949248219Human1name
405675028CV3358767single nucleotide variantNM_021035.3(ZNFX1):c.4829A>T (p.Asp1610Val)Inborn genetic diseases [RCV004487439]uncertain significance204924819549248195Human1name
405675032CV3358768single nucleotide variantNM_021035.3(ZNFX1):c.4910A>G (p.Lys1637Arg)Inborn genetic diseases [RCV004487440]uncertain significance204924811449248114Human1name
405675036CV3358769single nucleotide variantNM_021035.3(ZNFX1):c.4988G>A (p.Arg1663Gln)Inborn genetic diseases [RCV004487441]likely benign204924803649248036Human1name
405675040CV3358770single nucleotide variantNM_021035.3(ZNFX1):c.5305C>A (p.Leu1769Ile)Inborn genetic diseases [RCV004487442]uncertain significance204924771949247719Human1name
405675043CV3358771single nucleotide variantNM_021035.3(ZNFX1):c.5549G>A (p.Arg1850His)Inborn genetic diseases [RCV004487443]uncertain significance204924747549247475Human1name
405675051CV3358773single nucleotide variantNM_021035.3(ZNFX1):c.5572G>A (p.Gly1858Ser)Inborn genetic diseases [RCV004487445]likely benign204924745249247452Human1name
405675056CV3358774single nucleotide variantNM_021035.3(ZNFX1):c.5692C>T (p.His1898Tyr)Inborn genetic diseases [RCV004487446]uncertain significance204924733249247332Human1name
407499620CV3420877single nucleotide variantNM_021035.3(ZNFX1):c.4657C>A (p.Leu1553Ile)Inborn genetic diseases [RCV004606921]uncertain significance204924836749248367Human1name
407487158CV3420878single nucleotide variantNM_021035.3(ZNFX1):c.4751G>A (p.Arg1584His)Inborn genetic diseases [RCV004603708]uncertain significance204924827349248273Human1name
407487162CV3420879single nucleotide variantNM_021035.3(ZNFX1):c.4402C>G (p.Leu1468Val)Inborn genetic diseases [RCV004603709]uncertain significance204924862249248622Human1name
407487175CV3420883single nucleotide variantNM_021035.3(ZNFX1):c.3988G>A (p.Gly1330Arg)Inborn genetic diseases [RCV004603713]uncertain significance204924903649249036Human1name
407487203CV3420890single nucleotide variantNM_021035.3(ZNFX1):c.4396A>C (p.Lys1466Gln)Inborn genetic diseases [RCV004603720]uncertain significance204924862849248628Human1name
408393732CV3519848single nucleotide variantNM_021035.3(ZNFX1):c.5680G>T (p.Asp1894Tyr)not provided [RCV004764144]uncertain significance204924734449247344Humanname
597626361CV3636425single nucleotide variantNM_021035.3(ZNFX1):c.4687C>T (p.Arg1563Trp)Inborn genetic diseases [RCV004965048]uncertain significance204924833749248337Human1name
597626363CV3636426single nucleotide variantNM_021035.3(ZNFX1):c.5521T>A (p.Tyr1841Asn)Inborn genetic diseases [RCV004965049]uncertain significance204924750349247503Human1name
597626365CV3636427single nucleotide variantNM_021035.3(ZNFX1):c.3122A>G (p.Asn1041Ser)Inborn genetic diseases [RCV004965050]uncertain significance204925281449252814Human1name
597626371CV3636430single nucleotide variantNM_021035.3(ZNFX1):c.3746C>T (p.Thr1249Ile)Inborn genetic diseases [RCV004965053]uncertain significance204924927849249278Human1name
597626377CV3636432single nucleotide variantNM_021035.3(ZNFX1):c.4970T>C (p.Ile1657Thr)Inborn genetic diseases [RCV004965055]uncertain significance204924805449248054Human1name
597626387CV3636436single nucleotide variantNM_021035.3(ZNFX1):c.4453C>A (p.Pro1485Thr)Inborn genetic diseases [RCV004965059]uncertain significance204924857149248571Human1name
597626391CV3636438single nucleotide variantNM_021035.3(ZNFX1):c.4961C>T (p.Ala1654Val)Inborn genetic diseases [RCV004965061]uncertain significance204924806349248063Human1name
597626397CV3636441single nucleotide variantNM_021035.3(ZNFX1):c.4837G>A (p.Ala1613Thr)Inborn genetic diseases [RCV004965064]uncertain significance204924818749248187Human1name
597626399CV3636442single nucleotide variantNM_021035.3(ZNFX1):c.5518G>A (p.Gly1840Ser)Inborn genetic diseases [RCV004965065]uncertain significance204924750649247506Human1name
597626406CV3636445single nucleotide variantNM_021035.3(ZNFX1):c.3781C>T (p.Arg1261Trp)Inborn genetic diseases [RCV004965068]uncertain significance204924924349249243Human1name
597626412CV3636448single nucleotide variantNM_021035.3(ZNFX1):c.3945G>T (p.Glu1315Asp)Inborn genetic diseases [RCV004965071]uncertain significance204924907949249079Human1name
597665700CV3720843single nucleotide variantNM_021035.3(ZNFX1):c.3152T>C (p.Leu1051Pro)Immunodeficiency 91 and hyperinflammation [RCV005028964]uncertain significance204925278449252784Human1name
598273621CV3941997single nucleotide variantNM_021035.3(ZNFX1):c.4991T>A (p.Leu1664His)Inborn genetic diseases [RCV005303421]uncertain significance204924803349248033Human1name
598273625CV3941999single nucleotide variantNM_021035.3(ZNFX1):c.5105T>C (p.Val1702Ala)Inborn genetic diseases [RCV005303423]uncertain significance204924791949247919Human1name
598200240CV3942000single nucleotide variantNM_021035.3(ZNFX1):c.4367G>A (p.Arg1456His)Inborn genetic diseases [RCV005314026]uncertain significance204924865749248657Human1name
598273629CV3942002single nucleotide variantNM_021035.3(ZNFX1):c.3502C>T (p.Arg1168Cys)Inborn genetic diseases [RCV005303425]uncertain significance204924952249249522Human1name
598200249CV3942006single nucleotide variantNM_021035.3(ZNFX1):c.4471C>G (p.Gln1491Glu)Inborn genetic diseases [RCV005314028]uncertain significance204924855349248553Human1name
598273637CV3942009single nucleotide variantNM_021035.3(ZNFX1):c.3238G>T (p.Ala1080Ser)Inborn genetic diseases [RCV005303429]uncertain significance204925160149251601Human1name
598273640CV3942010single nucleotide variantNM_021035.3(ZNFX1):c.3883C>T (p.Arg1295Cys)Inborn genetic diseases [RCV005303430]uncertain significance204924914149249141Human1name
598200265CV3942012single nucleotide variantNM_021035.3(ZNFX1):c.3191T>C (p.Ile1064Thr)Inborn genetic diseases [RCV005314031]uncertain significance204925274549252745Human1name
598273642CV3942013single nucleotide variantNM_021035.3(ZNFX1):c.5065C>G (p.Leu1689Val)Inborn genetic diseases [RCV005303431]uncertain significance204924795949247959Human1name
598273644CV3942014single nucleotide variantNM_021035.3(ZNFX1):c.4848G>T (p.Leu1616Phe)Inborn genetic diseases [RCV005303432]uncertain significance204924817649248176Human1name
598273646CV3942015single nucleotide variantNM_021035.3(ZNFX1):c.3950A>C (p.Gln1317Pro)Inborn genetic diseases [RCV005303433]uncertain significance204924907449249074Human1name
15195156CV705540single nucleotide variantNM_021035.3(ZNFX1):c.3637A>G (p.Ile1213Val)not provided [RCV000955844]benign204924938749249387Humanname
151234267CV1318126insertionNM_021035.3(ZNFX1):c.495_496insT (p.Thr166fs)Immunodeficiency 91 and hyperinflammation [RCV001789744]pathogenic204927131649271317Human1name
151234269CV1318128microsatelliteNM_021035.3(ZNFX1):c.1623_1624del (p.His542fs)Immunodeficiency 91 and hyperinflammation [RCV001789746]pathogenic204927018849270189Humanname
151234264CV1318124microsatelliteNM_021035.3(ZNFX1):c.4815_4818del (p.Glu1606fs)Immunodeficiency 91 and hyperinflammation [RCV001789742]pathogenic204924820649248209Humanname
151234268CV1318127insertionNM_021035.3(ZNFX1):c.2698_2699insT (p.Arg900fs)Immunodeficiency 91 and hyperinflammation [RCV001789745]pathogenic204925591349255914Human1name
151348510CV1324067deletionNM_021035.3(ZNFX1):c.5362_5369del (p.Val1788fs)ZNFX1-related disorder [RCV001807980]uncertain significance204924765549247662Humanname , trait , alternate_id
401797391CV2740848deletionNM_021035.3(ZNFX1):c.5345_5348del (p.Asp1782fs)not provided [RCV003322012]uncertain significance204924767649247679Humanname
405705148CV3225065deletionNM_021035.3(ZNFX1):c.3292_3302del (p.Leu1098fs)Immunodeficiency 91 and hyperinflammation [RCV003990021]uncertain significance204925153749251547Human1name
598243001CV3894727indelNM_021035.3(ZNFX1):c.4966_4969delinsTC (p.Glu1656fs)Immunodeficiency 91 and hyperinflammation [RCV005257933]likely pathogenic204924805549248058Humanname