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Pathways
Variants search result for All species
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490 records found for search term Ripk1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151887694CV1341623single nucleotide variantNM_001354930.2(RIPK1):c.165-3C>Tnot provided [RCV001887814]uncertain significance630777763077776Humanname
151854650CV1353741single nucleotide variantNM_001354930.2(RIPK1):c.459+6C>Tnot provided [RCV001979378]uncertain significance630811223081122Humanname
151793547CV1411414single nucleotide variantNM_001354930.2(RIPK1):c.165-9T>Gnot provided [RCV002010919]likely benign|uncertain significance630777703077770Humanname
151856040CV1448944duplicationNM_001354930.2(RIPK1):c.321+3dupnot provided [RCV001979533]uncertain significance630779373077938Humanname
151871072CV1488709single nucleotide variantNM_001354930.2(RIPK1):c.322-1G>Cnot provided [RCV002035673]likely pathogenic630809783080978Humanname
152139489CV1560034duplicationNM_001354930.2(RIPK1):c.838+8dupnot provided [RCV002137987]likely benign630854153085416Humanname
152082076CV1641465single nucleotide variantNM_001354930.2(RIPK1):c.321+8G>Cnot provided [RCV002211550]likely benign630779433077943Humanname
156282806CV2050039single nucleotide variantNM_001354930.2(RIPK1):c.839-5T>Cnot provided [RCV002807047]likely benign630895763089576Humanname
155913681CV2065988single nucleotide variantNM_001354930.2(RIPK1):c.915+6C>Gnot provided [RCV002837899]uncertain significance630896633089663Humanname
156254267CV2162863single nucleotide variantNM_001354930.2(RIPK1):c.838+7G>Cnot provided [RCV003026446]likely benign630854153085415Humanname
405220917CV2965995single nucleotide variantNM_001354930.2(RIPK1):c.165-6C>Tnot provided [RCV003680666]likely benign630777733077773Humanname
405199919CV2969401single nucleotide variantNM_001354930.2(RIPK1):c.322-4T>Cnot provided [RCV003678006]likely benign630809753080975Humanname
405217038CV2972225single nucleotide variantNM_001354930.2(RIPK1):c.915+1G>Anot provided [RCV003680160]likely pathogenic630896583089658Humanname
405239677CV2979952single nucleotide variantNM_001354930.2(RIPK1):c.915+9T>Cnot provided [RCV003683781]likely benign630896663089666Humanname
597932069CV3742606single nucleotide variantNM_001354930.2(RIPK1):c.838+9A>Cnot provided [RCV005076045]likely benign630854173085417Humanname
597902395CV3779250single nucleotide variantNM_001354930.2(RIPK1):c.321+4G>Anot provided [RCV005127327]uncertain significance630779393077939Humanname
597918435CV3789732single nucleotide variantNM_001354930.2(RIPK1):c.839-3C>Tnot provided [RCV005129827]uncertain significance630895783089578Humanname
597955985CV3796293single nucleotide variantNM_001354930.2(RIPK1):c.321+3A>Gnot provided [RCV005137110]uncertain significance630779383077938Humanname
597899712CV3796463single nucleotide variantNM_001354930.2(RIPK1):c.915+4G>Anot provided [RCV005152546]uncertain significance630896613089661Humanname
597962354CV3809150single nucleotide variantNM_001354930.2(RIPK1):c.460-5C>Tnot provided [RCV005164052]likely benign630830803083080Humanname
597877289CV3860242single nucleotide variantNM_001354930.2(RIPK1):c.460-5C>Anot provided [RCV005198451]uncertain significance630830803083080Humanname
127305042CV1155317single nucleotide variantNM_001354930.2(RIPK1):c.689-16A>Cnot provided [RCV001516136]benign630852433085243Humanname
152044871CV1525639single nucleotide variantNM_001354930.2(RIPK1):c.839-19G>Anot provided [RCV002126541]likely benign630895623089562Humanname
152109152CV1563824deletionNM_001354930.2(RIPK1):c.164+14delnot provided [RCV002174106]benign630770013077001Humanname
152110126CV1563982deletionNM_001354930.2(RIPK1):c.321+14delnot provided [RCV002174224]likely benign630779463077946Humanname
152078814CV1564916single nucleotide variantNM_001354930.2(RIPK1):c.1730-9A>Gnot provided [RCV002192770]likely benign631130443113044Humanname
152085998CV1573815single nucleotide variantNM_001354930.2(RIPK1):c.688+16C>Tnot provided [RCV002149935]likely benign630833293083329Humanname
152098040CV1578359single nucleotide variantNM_001354930.2(RIPK1):c.689-15G>Anot provided [RCV002151448]likely benign630852443085244Humanname
152145656CV1582699single nucleotide variantNM_001354930.2(RIPK1):c.165-16C>Tnot provided [RCV002201201]likely benign630777633077763Humanname
152170645CV1592519single nucleotide variantNM_001354930.2(RIPK1):c.460-18G>Cnot provided [RCV002161841]likely benign630830673083067Humanname
152093439CV1625866single nucleotide variantNM_001354930.2(RIPK1):c.838+12T>Anot provided [RCV002150885]likely benign630854203085420Humanname
156349165CV1989321single nucleotide variantNM_001354930.2(RIPK1):c.459+13C>Tnot provided [RCV002631852]likely benign630811293081129Humanname
156069706CV2018495single nucleotide variantNM_001354930.2(RIPK1):c.322-14A>Tnot provided [RCV002705644]likely benign630809653080965Humanname
155928246CV2041608single nucleotide variantNM_001354930.2(RIPK1):c.321+14C>Tnot provided [RCV002751031]likely benign630779493077949Humanname
155988516CV2133370single nucleotide variantNM_001354930.2(RIPK1):c.689-10T>Cnot provided [RCV002996453]likely benign630852493085249Humanname
156397321CV2178395single nucleotide variantNM_001354930.2(RIPK1):c.915+19G>Anot provided [RCV003051985]likely benign630896763089676Humanname
404987742CV2849481single nucleotide variantNM_001354930.2(RIPK1):c.321+97C>Anot specified [RCV003490338]benign630780323078032Humanname
402492525CV2863251single nucleotide variantNM_001354930.2(RIPK1):c.1576+7G>CRIPK1-related disorder [RCV003939069]|not provided [RCV003573158]likely benign631060583106058Human1name , trait , alternate_id
402492324CV2877891single nucleotide variantNM_001354930.2(RIPK1):c.1576+9G>Anot provided [RCV003545066]likely benign631060603106060Humanname
405183461CV2920243single nucleotide variantNM_001354930.2(RIPK1):c.321+12C>Tnot provided [RCV003564218]likely benign630779473077947Humanname
405246014CV2965651single nucleotide variantNM_001354930.2(RIPK1):c.322-10C>Anot provided [RCV003685319]likely benign630809693080969Humanname
405236385CV2973428single nucleotide variantNM_001354930.2(RIPK1):c.1577-5T>Anot provided [RCV003683153]uncertain significance631107983110798Humanname
405196768CV2976122single nucleotide variantNM_001354930.2(RIPK1):c.839-17A>Tnot provided [RCV003677744]likely benign630895643089564Humanname
405239894CV2993536single nucleotide variantNM_001354930.2(RIPK1):c.459+10C>Gnot provided [RCV003718976]likely benign630811263081126Humanname
405117442CV3020089single nucleotide variantNM_001354930.2(RIPK1):c.321+20A>Tnot provided [RCV003700266]likely benign630779553077955Humanname
405186181CV3040499deletionNM_001354930.2(RIPK1):c.460-17delnot provided [RCV003706036]likely benign630830683083068Humanname
405041506CV3154027single nucleotide variantNM_001354930.2(RIPK1):c.321+17C>Tnot provided [RCV003848895]likely benign630779523077952Humanname
405227461CV3180206single nucleotide variantNM_001354930.2(RIPK1):c.321+13C>Gnot provided [RCV003864626]likely benign630779483077948Humanname
597853251CV3737726single nucleotide variantNM_001354930.2(RIPK1):c.459+14G>Anot provided [RCV005066499]likely benign630811303081130Humanname
597872568CV3769733single nucleotide variantNM_001354930.2(RIPK1):c.1576+2T>Gnot provided [RCV005107991]likely pathogenic631060533106053Humanname
597903612CV3804664single nucleotide variantNM_001354930.2(RIPK1):c.1006+5A>Cnot provided [RCV005153099]uncertain significance631043203104320Humanname
597957733CV3814444single nucleotide variantNM_001354930.2(RIPK1):c.1729+9C>Anot provided [RCV005162775]likely benign631109643110964Humanname
597838441CV3824809single nucleotide variantNM_001354930.2(RIPK1):c.916-13C>Tnot provided [RCV005171673]likely benign631042123104212Humanname
597837849CV3828874single nucleotide variantNM_001354930.2(RIPK1):c.322-14A>Gnot provided [RCV005171567]likely benign630809653080965Humanname
597974880CV3831893single nucleotide variantNM_001354930.2(RIPK1):c.839-15A>Cnot provided [RCV005168832]likely benign630895663089566Humanname
598125428CV3881590single nucleotide variantNM_001354930.2(RIPK1):c.1577-1G>Anot provided [RCV005232496]likely pathogenic631108023110802Humanname
127316283CV1155321single nucleotide variantNM_001354930.2(RIPK1):c.1576+15G>Anot provided [RCV001520417]benign631060663106066Humanname
152155395CV1520287single nucleotide variantNM_001354930.2(RIPK1):c.1729+18G>Tnot provided [RCV002140101]likely benign631109733110973Humanname
152149608CV1545420single nucleotide variantNM_001354930.2(RIPK1):c.1007-13C>Tnot provided [RCV002121556]likely benign631054693105469Humanname
152119181CV1593606single nucleotide variantNM_001354930.2(RIPK1):c.1730-15T>CSee cases [RCV002252763]|not provided [RCV002097915]benign|uncertain significance631130383113038Humanname
156093619CV1980781single nucleotide variantNM_001354930.2(RIPK1):c.1007-11T>Cnot provided [RCV002621950]likely benign631054713105471Humanname
155918784CV1981117single nucleotide variantNM_001354930.2(RIPK1):c.1007-16G>Anot provided [RCV002614448]likely benign631054663105466Humanname
156362529CV2003303single nucleotide variantNM_001354930.2(RIPK1):c.1577-18G>Anot provided [RCV002676340]likely benign631107853110785Humanname
155965019CV2048700single nucleotide variantNM_001354930.2(RIPK1):c.1007-17T>Cnot provided [RCV002776448]likely benign631054653105465Humanname
156355775CV2188802single nucleotide variantNM_001354930.2(RIPK1):c.1006+18C>Anot provided [RCV003048673]likely benign631043333104333Humanname
405197420CV2880230single nucleotide variantNM_001354930.2(RIPK1):c.1577-18G>Cnot provided [RCV003551020]likely benign631107853110785Humanname
405221862CV2908127single nucleotide variantNM_001354930.2(RIPK1):c.1730-11C>Anot provided [RCV003568473]likely benign631130423113042Humanname
597863231CV3745288single nucleotide variantNM_001354930.2(RIPK1):c.1576+14C>Tnot provided [RCV005067644]likely benign631060653106065Humanname
597924787CV3748529deletionNM_001354930.2(RIPK1):c.1729+11delnot provided [RCV005075177]likely benign631109643110964Humanname
597880394CV3810233single nucleotide variantNM_001354930.2(RIPK1):c.1006+16G>Anot provided [RCV005149694]likely benign631043313104331Humanname
597913732CV3816948single nucleotide variantNM_001354930.2(RIPK1):c.1729+11C>Tnot provided [RCV005154345]likely benign631109663110966Humanname
597896834CV3834652single nucleotide variantNM_001354930.2(RIPK1):c.1006+13A>Gnot provided [RCV005180563]likely benign631043283104328Humanname
13797816CV552271deletionNM_001354930.2(RIPK1):c.688_688+20delImmunodeficiency 57 [RCV000680191]pathogenic630833133083333Human1name
152037962CV1530346single nucleotide variantNM_001354930.2(RIPK1):c.27C>G (p.Val9=)not provided [RCV002087525]likely benign630768503076850Humanname
127287018CV1137481single nucleotide variantNM_001354930.2(RIPK1):c.99G>A (p.Leu33=)not provided [RCV001494671]likely benign630769223076922Humanname
127303826CV1155316single nucleotide variantNM_001354930.2(RIPK1):c.84T>C (p.Phe28=)Autoinflammation with episodic fever and lymphadenopathy [RCV001796540]|Immunodeficiency 57 [RCV001796539]|not provided [RCV001515633]|not specified [RCV003394092]benign630769073076907Human2name , alternate_id
151877420CV1480961single nucleotide variantNM_001354930.2(RIPK1):c.2T>A (p.Met1Lys)not provided [RCV001982078]uncertain significance630768253076825Humanname
152096381CV1565868single nucleotide variantNM_001354930.2(RIPK1):c.42C>T (p.Ser14=)not provided [RCV002094896]likely benign630768653076865Humanname
152034987CV1584741deletionNM_001354930.2(RIPK1):c.321+13_321+14delnot provided [RCV002125186]likely benign630779463077947Humanname
156060702CV1930987single nucleotide variantNM_001354930.2(RIPK1):c.75C>T (p.Ser25=)not provided [RCV002638275]likely benign630768983076898Humanname
402477859CV2858266deletionNM_001354930.2(RIPK1):c.460-13_460-12delnot provided [RCV003543671]uncertain significance630830723083073Humanname
405217287CV3160952duplicationNM_001354930.2(RIPK1):c.321+19_321+22dupnot provided [RCV003863014]likely benign630779513077952Humanname
597832997CV3831422deletionNM_001354930.2(RIPK1):c.688+15_688+17delnot provided [RCV005170625]likely benign630833273083329Humanname
597899237CV3854650single nucleotide variantNM_001354930.2(RIPK1):c.1A>G (p.Met1Val)not provided [RCV005201758]uncertain significance630768243076824Humanname
151720668CV1491573single nucleotide variantNM_001354930.2(RIPK1):c.168C>T (p.His56=)not provided [RCV002003617]likely benign630777823077782Humanname
152085723CV1573765single nucleotide variantNM_001354930.2(RIPK1):c.171C>T (p.Asn57=)not provided [RCV002149896]likely benign630777853077785Humanname
152082236CV1607971single nucleotide variantNM_001354930.2(RIPK1):c.144C>T (p.Tyr48=)not provided [RCV002193172]likely benign630769673076967Humanname
152141615CV1628972single nucleotide variantNM_001354930.2(RIPK1):c.270G>T (p.Leu90=)not provided [RCV002100854]likely benign630778843077884Humanname
152028234CV1655140single nucleotide variantNM_001354930.2(RIPK1):c.240C>T (p.Gly80=)not provided [RCV002105164]likely benign630778543077854Humanname
156406392CV1963604single nucleotide variantNM_001354930.2(RIPK1):c.117G>A (p.Gln39=)not provided [RCV002585894]likely benign630769403076940Humanname
156236733CV1999620single nucleotide variantNM_001354930.2(RIPK1):c.268C>T (p.Leu90=)not provided [RCV002667784]likely benign630778823077882Humanname
156203668CV2004317single nucleotide variantNM_001354930.2(RIPK1):c.192G>A (p.Ala64=)not provided [RCV002666586]likely benign630778063077806Humanname
155959328CV2083369single nucleotide variantNM_001354930.2(RIPK1):c.150G>A (p.Gly50=)not provided [RCV002862782]likely benign630769733076973Humanname
156062217CV2096218single nucleotide variantNM_001354930.2(RIPK1):c.114C>T (p.Thr38=)not provided [RCV002886547]likely benign630769373076937Humanname
156338365CV2106578single nucleotide variantNM_001354930.2(RIPK1):c.225G>A (p.Val75=)not provided [RCV002938761]likely benign630778393077839Humanname
405007412CV3006505single nucleotide variantNM_001354930.2(RIPK1):c.237G>A (p.Leu79=)not provided [RCV003693698]likely benign630778513077851Humanname
405253934CV3045140single nucleotide variantNM_001354930.2(RIPK1):c.267C>T (p.Ser89=)not provided [RCV003722765]likely benign630778813077881Humanname
405248247CV3159185single nucleotide variantNM_001354930.2(RIPK1):c.291G>A (p.Lys97=)not provided [RCV003869330]likely benign630779053077905Humanname
597896486CV3740408single nucleotide variantNM_001354930.2(RIPK1):c.186G>A (p.Glu62=)not provided [RCV005071761]likely benign630778003077800Humanname
597872321CV3768507single nucleotide variantNM_001354930.2(RIPK1):c.15G>A (p.Met5Ile)not provided [RCV005122886]uncertain significance630768383076838Humanname
597908519CV3781678single nucleotide variantNM_001354930.2(RIPK1):c.195G>A (p.Lys65=)not provided [RCV005128366]likely benign630778093077809Humanname
597937158CV3787829single nucleotide variantNM_001354930.2(RIPK1):c.22A>G (p.Asn8Asp)not provided [RCV005132708]uncertain significance630768453076845Humanname
597885492CV3799983single nucleotide variantNM_001354930.2(RIPK1):c.237G>C (p.Leu79=)not provided [RCV005150462]likely benign630778513077851Humanname
597929103CV3816228single nucleotide variantNM_001354930.2(RIPK1):c.228G>A (p.Val76=)not provided [RCV005156809]likely benign630778423077842Humanname
597937692CV3862755single nucleotide variantNM_001354930.2(RIPK1):c.243C>T (p.Val81=)not provided [RCV005208027]likely benign630778573077857Humanname
127282566CV1073408single nucleotide variantNM_001354930.2(RIPK1):c.489G>A (p.Lys163=)not provided [RCV001411190]likely benign630831143083114Humanname
127302741CV1155319single nucleotide variantNM_001354930.2(RIPK1):c.709T>C (p.Leu237=)RIPK1-related disorder [RCV003921113]|not provided [RCV001515173]benign630852793085279Human1name , trait , alternate_id
151780506CV1446262single nucleotide variantNM_001354930.2(RIPK1):c.591C>T (p.His197=)not provided [RCV001989086]likely benign630832163083216Humanname
151741153CV1500992single nucleotide variantNM_001354930.2(RIPK1):c.82T>C (p.Phe28Leu)Immunodeficiency 57 [RCV002492077]|not provided [RCV001985251]uncertain significance630769053076905Human1name , alternate_id
152046678CV1519655single nucleotide variantNM_001354930.2(RIPK1):c.40T>G (p.Ser14Ala)not provided [RCV002145163]likely benign630768633076863Humanname
152064887CV1525877single nucleotide variantNM_001354930.2(RIPK1):c.510T>C (p.Asn170=)not provided [RCV002128832]likely benign630831353083135Humanname
152158925CV1529147single nucleotide variantNM_001354930.2(RIPK1):c.816G>A (p.Pro272=)not provided [RCV002159283]likely benign630853863085386Humanname
152052674CV1531754single nucleotide variantNM_001354930.2(RIPK1):c.660G>A (p.Ala220=)not provided [RCV002072575]likely benign630832853083285Humanname
152044065CV1534379single nucleotide variantNM_001354930.2(RIPK1):c.942T>C (p.Val314=)not provided [RCV002088337]likely benign631042513104251Humanname
152143192CV1538364single nucleotide variantNM_001354930.2(RIPK1):c.318C>T (p.Ala106=)not provided [RCV002219650]likely benign630779323077932Humanname
152111834CV1539134single nucleotide variantNM_001354930.2(RIPK1):c.828G>A (p.Pro276=)not provided [RCV002080359]likely benign630853983085398Humanname
152122215CV1541441single nucleotide variantNM_001354930.2(RIPK1):c.768C>T (p.Cys256=)not provided [RCV002175730]likely benign630853383085338Humanname
152063536CV1542460single nucleotide variantNM_001354930.2(RIPK1):c.900C>T (p.Asp300=)not provided [RCV002208998]likely benign630896423089642Humanname
152079168CV1557844single nucleotide variantNM_001354930.2(RIPK1):c.309G>C (p.Val103=)not provided [RCV002170315]likely benign630779233077923Humanname
152127123CV1572043single nucleotide variantNM_001354930.2(RIPK1):c.399C>T (p.Gly133=)not provided [RCV002217565]likely benign630810563081056Humanname
152095298CV1575149single nucleotide variantNM_001354930.2(RIPK1):c.582G>A (p.Ala194=)RIPK1-related disorder [RCV003951190]|not provided [RCV002132545]likely benign630832073083207Human1name , trait , alternate_id
152107392CV1579399single nucleotide variantNM_001354930.2(RIPK1):c.399C>G (p.Gly133=)not provided [RCV002173893]likely benign630810563081056Humanname
152043191CV1581566single nucleotide variantNM_001354930.2(RIPK1):c.585C>T (p.Pro195=)not provided [RCV002071284]likely benign630832103083210Humanname
152073024CV1598061single nucleotide variantNM_001354930.2(RIPK1):c.621G>A (p.Glu207=)not provided [RCV002169541]likely benign630832463083246Humanname
152099835CV1627334single nucleotide variantNM_001354930.2(RIPK1):c.888T>C (p.Ser296=)not provided [RCV002095374]likely benign630896303089630Humanname
152048737CV1656920single nucleotide variantNM_001354930.2(RIPK1):c.930C>T (p.Asn310=)not provided [RCV002189135]likely benign631042393104239Humanname
156401158CV1907939single nucleotide variantNM_001354930.2(RIPK1):c.333G>A (p.Pro111=)not provided [RCV002584890]likely benign630809903080990Humanname
156417486CV1909754single nucleotide variantNM_001354930.2(RIPK1):c.540C>T (p.Asp180=)not provided [RCV002610742]likely benign630831653083165Humanname
156260482CV1960622single nucleotide variantNM_001354930.2(RIPK1):c.606C>T (p.Asn202=)not provided [RCV002576829]likely benign630832313083231Humanname
156323945CV1976417single nucleotide variantNM_001354930.2(RIPK1):c.306C>T (p.His102=)not provided [RCV002600411]likely benign630779203077920Humanname
156366907CV2020974single nucleotide variantNM_001354930.2(RIPK1):c.420G>A (p.Lys140=)not provided [RCV002721244]likely benign630810773081077Humanname
156147573CV2037447single nucleotide variantNM_001354930.2(RIPK1):c.549T>C (p.Ala183=)not provided [RCV002786742]likely benign630831743083174Humanname
156252254CV2060443single nucleotide variantNM_001354930.2(RIPK1):c.810G>A (p.Ala270=)not provided [RCV002791737]likely benign630853803085380Humanname
156381800CV2060866single nucleotide variantNM_001354930.2(RIPK1):c.71A>C (p.Asp24Ala)not provided [RCV002815138]uncertain significance630768943076894Humanname
156348775CV2061983single nucleotide variantNM_001354930.2(RIPK1):c.573C>T (p.Tyr191=)not provided [RCV002811624]likely benign630831983083198Humanname
155911723CV2069571single nucleotide variantNM_001354930.2(RIPK1):c.41C>T (p.Ser14Phe)not provided [RCV002837768]uncertain significance630768643076864Humanname
156152708CV2070485single nucleotide variantNM_001354930.2(RIPK1):c.502C>T (p.Leu168=)not provided [RCV002850923]likely benign630831273083127Humanname
155941466CV2075976single nucleotide variantNM_001354930.2(RIPK1):c.972T>C (p.Asp324=)not provided [RCV002861809]likely benign631042813104281Humanname
156309793CV2109466single nucleotide variantNM_001354930.2(RIPK1):c.741A>G (p.Pro247=)not provided [RCV002923006]likely benign630853113085311Humanname
156356382CV2126087single nucleotide variantNM_001354930.2(RIPK1):c.951A>G (p.Arg317=)not provided [RCV002966693]likely benign631042603104260Humanname
156041139CV2143456single nucleotide variantNM_001354930.2(RIPK1):c.561C>T (p.Gly187=)not provided [RCV002999526]likely benign630831863083186Humanname
156154687CV2150724single nucleotide variantNM_001354930.2(RIPK1):c.76G>A (p.Gly26Arg)not provided [RCV003022976]uncertain significance630768993076899Humanname
156096893CV2163436single nucleotide variantNM_001354930.2(RIPK1):c.576C>T (p.Tyr192=)not provided [RCV003038426]likely benign630832013083201Humanname
401918219CV2822653single nucleotide variantNM_001354930.2(RIPK1):c.636C>T (p.Tyr212=)not provided [RCV003430076]likely benign630832613083261Humanname
402492207CV2877717single nucleotide variantNM_001354930.2(RIPK1):c.558T>C (p.Asn186=)not provided [RCV003544993]likely benign630831833083183Humanname
405056444CV2932080single nucleotide variantNM_001354930.2(RIPK1):c.438T>C (p.Val146=)not provided [RCV003580162]likely benign630810953081095Humanname
405233528CV2965402single nucleotide variantNM_001354930.2(RIPK1):c.498C>T (p.Ser166=)not provided [RCV003682567]likely benign630831233083123Humanname
405120961CV3131537single nucleotide variantNM_001354930.2(RIPK1):c.960T>C (p.Ser320=)not provided [RCV003837401]likely benign631042693104269Humanname
405148588CV3141862single nucleotide variantNM_001354930.2(RIPK1):c.95C>T (p.Ser32Phe)not provided [RCV003839784]uncertain significance630769183076918Humanname
405101471CV3144323single nucleotide variantNM_001354930.2(RIPK1):c.750T>C (p.Asp250=)not provided [RCV003852776]likely benign630853203085320Humanname
405231549CV3157362single nucleotide variantNM_001354930.2(RIPK1):c.310C>T (p.Leu104=)not provided [RCV003865312]likely benign630779243077924Humanname
405157967CV3159775single nucleotide variantNM_001354930.2(RIPK1):c.876A>G (p.Gln292=)not provided [RCV003856846]uncertain significance630896183089618Humanname
405237823CV3165387single nucleotide variantNM_001354930.2(RIPK1):c.546C>G (p.Thr182=)not provided [RCV003866589]likely benign630831713083171Humanname
402469988CV3171036single nucleotide variantNM_001354930.2(RIPK1):c.600C>T (p.Asp200=)not provided [RCV003873999]likely benign630832253083225Humanname
402496717CV3179258single nucleotide variantNM_001354930.2(RIPK1):c.753C>T (p.Asp251=)not provided [RCV003877525]likely benign630853233085323Humanname
597654716CV3552134single nucleotide variantNM_001354930.2(RIPK1):c.85G>C (p.Gly29Arg)Autoinflammation with episodic fever and lymphadenopathy [RCV004820991]uncertain significance630769083076908Human1name , alternate_id
597890326CV3762859single nucleotide variantNM_001354930.2(RIPK1):c.381C>T (p.Cys127=)not provided [RCV005110632]likely benign630810383081038Humanname
597967420CV3824236single nucleotide variantNM_001354930.2(RIPK1):c.648A>G (p.Val216=)not provided [RCV005165459]likely benign630832733083273Humanname
597840217CV3825281single nucleotide variantNM_001354930.2(RIPK1):c.71A>T (p.Asp24Val)not provided [RCV005171964]uncertain significance630768943076894Humanname
597894375CV3857183single nucleotide variantNM_001354930.2(RIPK1):c.384C>T (p.Tyr128=)not provided [RCV005201047]likely benign630810413081041Humanname
13797818CV552272deletionNM_001354930.2(RIPK1):c.460-133_689-244delImmunodeficiency 57 [RCV000680192]pathogenic630829513085014Human1name
127249300CV1094988single nucleotide variantNM_001354930.2(RIPK1):c.1861C>A (p.Arg621=)not provided [RCV001436064]likely benign631131843113184Humanname
150334460CV1165781single nucleotide variantNM_001354930.2(RIPK1):c.212G>C (p.Arg71Thr)Inborn genetic diseases [RCV004039212]|not provided [RCV001530995]uncertain significance630778263077826Human1name
150529320CV1288877single nucleotide variantNM_001354930.2(RIPK1):c.1872G>C (p.Leu624=)not provided [RCV001727345]likely benign631131953113195Humanname
151840376CV1345867single nucleotide variantNM_001354930.2(RIPK1):c.221G>A (p.Arg74Gln)not provided [RCV001902765]uncertain significance630778353077835Humanname
151878084CV1350256single nucleotide variantNM_001354930.2(RIPK1):c.126G>A (p.Met42Ile)not provided [RCV002036500]uncertain significance630769493076949Humanname
151862529CV1353488single nucleotide variantNM_001354930.2(RIPK1):c.187G>T (p.Glu63Ter)not provided [RCV001924184]pathogenic630778013077801Humanname
151813362CV1373172single nucleotide variantNM_001354930.2(RIPK1):c.290A>G (p.Lys97Arg)not provided [RCV001900171]uncertain significance630779043077904Humanname
151838339CV1382734single nucleotide variantNM_001354930.2(RIPK1):c.178C>G (p.Leu60Val)Inborn genetic diseases [RCV004044844]|not provided [RCV002031525]uncertain significance630777923077792Human1name
151728526CV1410018single nucleotide variantNM_001354930.2(RIPK1):c.191C>T (p.Ala64Val)Inborn genetic diseases [RCV002557831]|not provided [RCV001910630]uncertain significance630778053077805Human1name
151826251CV1414657single nucleotide variantNM_001354930.2(RIPK1):c.241G>A (p.Val81Ile)See cases [RCV002252719]|not provided [RCV001920047]uncertain significance630778553077855Humanname
151875345CV1461226single nucleotide variantNM_001354930.2(RIPK1):c.172G>A (p.Glu58Lys)not provided [RCV001925742]uncertain significance630777863077786Humanname
151848481CV1480334single nucleotide variantNM_001354930.2(RIPK1):c.151C>T (p.Pro51Ser)not provided [RCV001903771]uncertain significance630769743076974Humanname
152027785CV1521041single nucleotide variantNM_001354930.2(RIPK1):c.1062G>C (p.Val354=)not provided [RCV002085246]likely benign631055373105537Humanname
152159486CV1522652single nucleotide variantNM_001354930.2(RIPK1):c.1029G>A (p.Leu343=)not provided [RCV002140671]benign631055043105504Humanname
152065446CV1539768single nucleotide variantNM_001354930.2(RIPK1):c.2001C>T (p.Tyr667=)RIPK1-related disorder [RCV003895844]|not provided [RCV002147357]likely benign631133243113324Human1name , trait , alternate_id
152061518CV1540794single nucleotide variantNM_001354930.2(RIPK1):c.1605T>C (p.Asn535=)not provided [RCV002110171]likely benign631108313110831Humanname
152133163CV1547051single nucleotide variantNM_001354930.2(RIPK1):c.1212T>C (p.Ala404=)not provided [RCV002155806]likely benign631056873105687Humanname
152138209CV1549488single nucleotide variantNM_001354930.2(RIPK1):c.1311T>G (p.Thr437=)not provided [RCV002156413]likely benign631057863105786Humanname
152050712CV1552703single nucleotide variantNM_001354930.2(RIPK1):c.1032C>T (p.His344=)not provided [RCV002145658]likely benign631055073105507Humanname
152093990CV1561362single nucleotide variantNM_001354930.2(RIPK1):c.1095C>T (p.His365=)not provided [RCV002094584]likely benign631055703105570Humanname
152040859CV1561947single nucleotide variantNM_001354930.2(RIPK1):c.1692C>T (p.Phe564=)not provided [RCV002188238]likely benign631109183110918Humanname
152076895CV1565584single nucleotide variantNM_001354930.2(RIPK1):c.1989C>T (p.Ser663=)not provided [RCV002148805]likely benign631133123113312Humanname
152101606CV1578913single nucleotide variantNM_001354930.2(RIPK1):c.1782G>C (p.Leu594=)not provided [RCV002079067]likely benign631131053113105Humanname
152034786CV1590208single nucleotide variantNM_001354930.2(RIPK1):c.1656G>A (p.Thr552=)not provided [RCV002205405]likely benign631108823110882Humanname
152031325CV1591074single nucleotide variantNM_001354930.2(RIPK1):c.1083T>C (p.Pro361=)not provided [RCV002186671]benign631055583105558Humanname
152167872CV1611755single nucleotide variantNM_001354930.2(RIPK1):c.1824A>G (p.Thr608=)not provided [RCV002182280]likely benign631131473113147Humanname
152156317CV1615753single nucleotide variantNM_001354930.2(RIPK1):c.1671A>G (p.Leu557=)not provided [RCV002158901]likely benign631108973110897Humanname
152049722CV1618589single nucleotide variantNM_001354930.2(RIPK1):c.1749G>A (p.Thr583=)not provided [RCV002166716]likely benign631130723113072Humanname
152114033CV1639617single nucleotide variantNM_001354930.2(RIPK1):c.1503T>C (p.His501=)not provided [RCV002197160]likely benign631059783105978Humanname
152112600CV1640622single nucleotide variantNM_001354930.2(RIPK1):c.1404A>G (p.Leu468=)not provided [RCV002174522]likely benign631058793105879Humanname
152133714CV1652012single nucleotide variantNM_001354930.2(RIPK1):c.1278C>T (p.Tyr426=)not provided [RCV002199664]likely benign631057533105753Humanname
152052511CV1659101single nucleotide variantNM_001354930.2(RIPK1):c.1302A>G (p.Gly434=)not provided [RCV002189586]likely benign631057773105777Humanname
156373638CV1901932single nucleotide variantNM_001354930.2(RIPK1):c.155A>G (p.Asn52Ser)Inborn genetic diseases [RCV003161780]|not provided [RCV003092675]uncertain significance630769783076978Human1name
156440647CV1943779single nucleotide variantNM_001354930.2(RIPK1):c.1407T>C (p.Tyr469=)not provided [RCV003110683]likely benign631058823105882Humanname
156449020CV1944273single nucleotide variantNM_001354930.2(RIPK1):c.293G>A (p.Gly98Asp)RIPK1-related disorder [RCV004747264]|not provided [RCV003121129]uncertain significance630779073077907Human1name , trait , alternate_id
156229359CV1955924single nucleotide variantNM_001354930.2(RIPK1):c.1140C>T (p.Asp380=)not provided [RCV002575813]likely benign631056153105615Humanname
156304901CV1999774single nucleotide variantNM_001354930.2(RIPK1):c.252G>T (p.Glu84Asp)not provided [RCV002671334]uncertain significance630778663077866Humanname
156049927CV2006676deletionNM_001354930.2(RIPK1):c.388del (p.His130fs)not provided [RCV002659331]pathogenic630810453081045Humanname
156371895CV2007842single nucleotide variantNM_001354930.2(RIPK1):c.1827G>A (p.Gln609=)not provided [RCV002676969]likely benign631131503113150Humanname
156221009CV2037689single nucleotide variantNM_001354930.2(RIPK1):c.1185G>A (p.Thr395=)not provided [RCV002790626]likely benign631056603105660Humanname
156010583CV2039168single nucleotide variantNM_001354930.2(RIPK1):c.1239C>T (p.Arg413=)not provided [RCV002795079]likely benign631057143105714Humanname
156108846CV2085673single nucleotide variantNM_001354930.2(RIPK1):c.1992C>T (p.Ser664=)not provided [RCV002848367]likely benign631133153113315Humanname
156256850CV2102460single nucleotide variantNM_001354930.2(RIPK1):c.1350C>T (p.His450=)not provided [RCV002895442]likely benign631058253105825Humanname
155998084CV2168854single nucleotide variantNM_001354930.2(RIPK1):c.1008C>T (p.Ala336=)not provided [RCV003017145]uncertain significance631054833105483Humanname
156165224CV2169565single nucleotide variantNM_001354930.2(RIPK1):c.161T>C (p.Ile54Thr)not provided [RCV003023340]uncertain significance630769843076984Humanname
156279928CV2186782single nucleotide variantNM_001354930.2(RIPK1):c.1614C>A (p.Gly538=)not provided [RCV003044746]likely benign631108403110840Humanname
156237557CV2235692single nucleotide variantNM_001354930.2(RIPK1):c.231G>T (p.Lys77Asn)Inborn genetic diseases [RCV002768054]|not provided [RCV005059259]uncertain significance630778453077845Human1name
401761116CV2726646single nucleotide variantNM_001354930.2(RIPK1):c.292G>A (p.Gly98Ser)Inborn genetic diseases [RCV003299741]uncertain significance630779063077906Human1name
402515922CV2856717single nucleotide variantNM_001354930.2(RIPK1):c.208C>G (p.Leu70Val)not provided [RCV003575487]uncertain significance630778223077822Humanname
402488056CV2861849single nucleotide variantNM_001354930.2(RIPK1):c.1945C>T (p.Leu649=)not provided [RCV003544678]likely benign631132683113268Humanname
405082392CV2864936single nucleotide variantNM_001354930.2(RIPK1):c.130A>C (p.Met44Leu)not provided [RCV003549330]uncertain significance630769533076953Humanname
405110212CV2898942single nucleotide variantNM_001354930.2(RIPK1):c.1498C>T (p.Leu500=)not provided [RCV003557770]likely benign631059733105973Humanname
405161542CV2899291single nucleotide variantNM_001354930.2(RIPK1):c.201G>T (p.Met67Ile)not provided [RCV003562356]uncertain significance630778153077815Humanname
405241366CV2970739single nucleotide variantNM_001354930.2(RIPK1):c.1482A>C (p.Pro494=)not provided [RCV003684109]likely benign631059573105957Humanname
405188308CV2977833single nucleotide variantNM_001354930.2(RIPK1):c.1818C>T (p.Gly606=)not provided [RCV003706229]likely benign631131413113141Humanname
405077361CV3008109single nucleotide variantNM_001354930.2(RIPK1):c.226G>A (p.Val76Met)not provided [RCV003716842]uncertain significance630778403077840Humanname
405234104CV3032348single nucleotide variantNM_001354930.2(RIPK1):c.1068G>A (p.Glu356=)not provided [RCV003712005]likely benign631055433105543Humanname
405217818CV3048938single nucleotide variantNM_001354930.2(RIPK1):c.1956G>A (p.Ala652=)not provided [RCV003732885]likely benign631132793113279Humanname
405212377CV3063207single nucleotide variantNM_001354930.2(RIPK1):c.1272A>G (p.Arg424=)not provided [RCV003732190]likely benign631057473105747Humanname
405214152CV3078392single nucleotide variantNM_001354930.2(RIPK1):c.289A>G (p.Lys97Glu)not provided [RCV003732413]uncertain significance630779033077903Humanname
405175518CV3123109single nucleotide variantNM_001354930.2(RIPK1):c.1686G>A (p.Thr562=)not provided [RCV003819508]likely benign631109123110912Humanname
405074038CV3145531single nucleotide variantNM_001354930.2(RIPK1):c.1548C>T (p.Thr516=)not provided [RCV003851116]likely benign631060233106023Humanname
405067161CV3148941single nucleotide variantNM_001354930.2(RIPK1):c.1341T>C (p.Asn447=)not provided [RCV003850703]likely benign631058163105816Humanname
405234232CV3155475single nucleotide variantNM_001354930.2(RIPK1):c.1935G>T (p.Thr645=)not provided [RCV003853453]likely benign631132583113258Humanname
405703182CV3224529single nucleotide variantNM_001354930.2(RIPK1):c.175G>C (p.Ala59Pro)Autoinflammation with episodic fever and lymphadenopathy [RCV003989917]likely benign630777893077789Human1name , alternate_id
405737577CV3319868single nucleotide variantNM_001354930.2(RIPK1):c.140T>C (p.Val47Ala)Inborn genetic diseases [RCV004451879]uncertain significance630769633076963Human1name
597718474CV3583679single nucleotide variantNM_001354930.2(RIPK1):c.139G>A (p.Val47Met)Inborn genetic diseases [RCV004960141]uncertain significance630769623076962Human1name
597718482CV3593623single nucleotide variantNM_001354930.2(RIPK1):c.288G>C (p.Glu96Asp)Inborn genetic diseases [RCV004960142]uncertain significance630779023077902Human1name
597718492CV3593624single nucleotide variantNM_001354930.2(RIPK1):c.204C>G (p.Asn68Lys)Inborn genetic diseases [RCV004960143]uncertain significance630778183077818Human1name
597871149CV3749880single nucleotide variantNM_001354930.2(RIPK1):c.1027C>T (p.Leu343=)not provided [RCV005068561]likely benign631055023105502Humanname
597873928CV3766096single nucleotide variantNM_001354930.2(RIPK1):c.1107G>A (p.Glu369=)not provided [RCV005108228]likely benign631055823105582Humanname
597850310CV3803220single nucleotide variantNM_001354930.2(RIPK1):c.1527C>T (p.Asn509=)not provided [RCV005145337]likely benign631060023106002Humanname
597938813CV3808320single nucleotide variantNM_001354930.2(RIPK1):c.248T>C (p.Ile83Thr)not provided [RCV005158508]uncertain significance630778623077862Humanname
597944705CV3812580single nucleotide variantNM_001354930.2(RIPK1):c.244A>G (p.Ile82Val)not provided [RCV005159790]uncertain significance630778583077858Humanname
597927769CV3816018single nucleotide variantNM_001354930.2(RIPK1):c.1896C>G (p.Leu632=)not provided [RCV005156599]likely benign631132193113219Humanname
597974191CV3821143single nucleotide variantNM_001354930.2(RIPK1):c.1593T>C (p.Tyr531=)not provided [RCV005168464]likely benign631108193110819Humanname
597976082CV3829082single nucleotide variantNM_001354930.2(RIPK1):c.189G>C (p.Glu63Asp)not provided [RCV005169531]uncertain significance630778033077803Humanname
597890225CV3839713single nucleotide variantNM_001354930.2(RIPK1):c.1890G>A (p.Gln630=)not provided [RCV005179605]likely benign631132133113213Humanname
597913405CV3850959single nucleotide variantNM_001354930.2(RIPK1):c.1524C>T (p.Thr508=)not provided [RCV005203927]likely benign631059993105999Humanname
597907755CV3853617single nucleotide variantNM_001354930.2(RIPK1):c.1482A>G (p.Pro494=)not provided [RCV005203097]likely benign631059573105957Humanname
597916134CV3860957single nucleotide variantNM_001354930.2(RIPK1):c.107A>G (p.His36Arg)not provided [RCV005204320]uncertain significance630769303076930Humanname
14352088CV589847deletionNM_001354930.2(RIPK1):c.954del (p.Met318fs)IL10-related early-onset inflammatory bowel disease [RCV000754605]|Immunodeficiency 57 [RCV000985125]pathogenic|likely pathogenic631042633104263Human1name
15174945CV721941single nucleotide variantNM_001354930.2(RIPK1):c.1935G>A (p.Thr645=)Immunodeficiency 57 [RCV002479005]|RIPK1-related disorder [RCV003920607]|not provided [RCV000884247]|not specified [RCV005236391]benign|likely benign631132583113258Human2name , trait , alternate_id
21069188CV795812single nucleotide variantNM_001354930.2(RIPK1):c.127A>T (p.Ile43Phe)not provided [RCV000998510]uncertain significance630769503076950Humanname
126747275CV1016702single nucleotide variantNM_001354930.2(RIPK1):c.464C>G (p.Ala155Gly)Immunodeficiency 57 [RCV001331111]uncertain significance630830893083089Human1name
126747277CV1016709single nucleotide variantNM_001354930.2(RIPK1):c.931G>A (p.Glu311Lys)Immunodeficiency 57 [RCV001331112]|Inborn genetic diseases [RCV002546444]|not provided [RCV001859281]conflicting interpretations of pathogenicity|uncertain significance631042403104240Human2name
127292420CV1155318single nucleotide variantNM_001354930.2(RIPK1):c.700G>A (p.Glu234Lys)RIPK1-related disorder [RCV003948495]|not provided [RCV001510838]benign630852703085270Human1name , trait , alternate_id
150529319CV1288876single nucleotide variantNM_001354930.2(RIPK1):c.815C>T (p.Pro272Leu)not provided [RCV001727344]uncertain significance630853853085385Humanname
151793860CV1337366single nucleotide variantNM_001354930.2(RIPK1):c.659C>T (p.Ala220Val)not provided [RCV001917082]uncertain significance630832843083284Humanname
151807008CV1340331single nucleotide variantNM_001354930.2(RIPK1):c.368T>C (p.Ile123Thr)Immunodeficiency 57 [RCV002478173]|not provided [RCV001867645]uncertain significance630810253081025Human1name , alternate_id
151785260CV1342671single nucleotide variantNM_001354930.2(RIPK1):c.772A>G (p.Arg258Gly)Inborn genetic diseases [RCV005266083]|not provided [RCV002010118]uncertain significance630853423085342Human1name
151890917CV1346817single nucleotide variantNM_001354930.2(RIPK1):c.901G>A (p.Val301Met)RIPK1-related disorder [RCV003403663]|not provided [RCV002038942]uncertain significance630896433089643Human1name , trait , alternate_id
151878199CV1350274single nucleotide variantNM_001354930.2(RIPK1):c.995G>A (p.Arg332Gln)Inborn genetic diseases [RCV002549032]|not provided [RCV002036513]uncertain significance631043043104304Human1name
151767512CV1366539single nucleotide variantNM_001354930.2(RIPK1):c.472G>A (p.Gly158Ser)Inborn genetic diseases [RCV003167291]|not provided [RCV001949834]uncertain significance630830973083097Human1name
151874033CV1382337single nucleotide variantNM_001354930.2(RIPK1):c.555G>C (p.Lys185Asn)not provided [RCV002019312]uncertain significance630831803083180Humanname
151837029CV1382566single nucleotide variantNM_001354930.2(RIPK1):c.478G>A (p.Ala160Thr)Inborn genetic diseases [RCV002549051]|not provided [RCV002031397]uncertain significance630831033083103Human1name
151754855CV1391449single nucleotide variantNM_001354930.2(RIPK1):c.977T>A (p.Val326Glu)not provided [RCV001969567]uncertain significance631042863104286Humanname
151771990CV1410976single nucleotide variantNM_001354930.2(RIPK1):c.386T>C (p.Leu129Ser)not provided [RCV001971273]uncertain significance630810433081043Humanname
151804731CV1429764single nucleotide variantNM_001354930.2(RIPK1):c.562G>T (p.Gly188Cys)not provided [RCV001974231]uncertain significance630831873083187Humanname
151727452CV1430118single nucleotide variantNM_001354930.2(RIPK1):c.827C>T (p.Pro276Leu)not provided [RCV002004437]uncertain significance630853973085397Humanname
151742156CV1431585single nucleotide variantNM_001354930.2(RIPK1):c.562G>A (p.Gly188Ser)not provided [RCV001926569]uncertain significance630831873083187Humanname
151881061CV1437283single nucleotide variantNM_001354930.2(RIPK1):c.974G>A (p.Cys325Tyr)not provided [RCV001999580]uncertain significance631042833104283Humanname
151815760CV1440869single nucleotide variantNM_001354930.2(RIPK1):c.332C>T (p.Pro111Leu)not provided [RCV001933656]|not specified [RCV005419271]uncertain significance630809893080989Humanname
151803547CV1442530single nucleotide variantNM_001354930.2(RIPK1):c.491T>C (p.Met164Thr)not provided [RCV002011787]uncertain significance630831163083116Humanname
151866956CV1446501single nucleotide variantNM_001354930.2(RIPK1):c.658G>A (p.Ala220Thr)not provided [RCV001980831]uncertain significance630832833083283Humanname
151884463CV1452658single nucleotide variantNM_001354930.2(RIPK1):c.657G>C (p.Trp219Cys)not provided [RCV002037556]uncertain significance630832823083282Humanname
151806750CV1453496single nucleotide variantNM_001354930.2(RIPK1):c.498C>G (p.Ser166Arg)Inborn genetic diseases [RCV004953239]|not provided [RCV001877874]uncertain significance630831233083123Human1name
151752443CV1455482single nucleotide variantNM_001354930.2(RIPK1):c.839G>A (p.Gly280Asp)not provided [RCV002043421]uncertain significance630895813089581Humanname
151866784CV1468788single nucleotide variantNM_001354930.2(RIPK1):c.310C>G (p.Leu104Val)not provided [RCV002018444]uncertain significance630779243077924Humanname
151852167CV1476108single nucleotide variantNM_001354930.2(RIPK1):c.462C>G (p.Ile154Met)not provided [RCV001996105]uncertain significance630830873083087Humanname
151756674CV1496983single nucleotide variantNM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser)Autoinflammation with episodic fever and lymphadenopathy [RCV002293257]|Inborn genetic diseases [RCV002557623]|not provided [RCV001913516]conflicting interpretations of pathogenicity|uncertain significance630832323083232Human2name , alternate_id
151762690CV1499224single nucleotide variantNM_001354930.2(RIPK1):c.676G>A (p.Glu226Lys)not provided [RCV001863287]uncertain significance630833013083301Humanname
151881468CV1499919single nucleotide variantNM_001354930.2(RIPK1):c.389A>C (p.His130Pro)not provided [RCV001886545]uncertain significance630810463081046Humanname
151799466CV1509346single nucleotide variantNM_001354930.2(RIPK1):c.463G>A (p.Ala155Thr)not provided [RCV001866997]uncertain significance630830883083088Humanname
151790302CV1515341single nucleotide variantNM_001354930.2(RIPK1):c.839G>T (p.Gly280Val)not provided [RCV002027158]uncertain significance630895813089581Humanname
155726601CV1773684single nucleotide variantNM_001354930.2(RIPK1):c.658G>C (p.Ala220Pro)not provided [RCV002301472]uncertain significance630832833083283Humanname
155690318CV1775146single nucleotide variantNM_001354930.2(RIPK1):c.578T>C (p.Met193Thr)not provided [RCV002294854]uncertain significance630832033083203Humanname
156390915CV1869919single nucleotide variantNM_001354930.2(RIPK1):c.544A>G (p.Thr182Ala)Inborn genetic diseases [RCV004070308]|not provided [RCV003068008]uncertain significance630831693083169Human1name
156256558CV1875326single nucleotide variantNM_001354930.2(RIPK1):c.842T>C (p.Ile281Thr)Inborn genetic diseases [RCV004070232]|not provided [RCV003060211]uncertain significance630895843089584Human1name
156207193CV1913266single nucleotide variantNM_001354930.2(RIPK1):c.901G>T (p.Val301Leu)not provided [RCV002595928]uncertain significance630896433089643Humanname
156403087CV1988921single nucleotide variantNM_001354930.2(RIPK1):c.911T>C (p.Leu304Ser)not provided [RCV002605832]uncertain significance630896533089653Humanname
156229024CV1991715single nucleotide variantNM_001354930.2(RIPK1):c.319G>A (p.Glu107Lys)not provided [RCV002626725]uncertain significance630779333077933Humanname
156123376CV2012203single nucleotide variantNM_001354930.2(RIPK1):c.908G>A (p.Ser303Asn)not provided [RCV002696125]uncertain significance630896503089650Humanname
156192409CV2017795single nucleotide variantNM_001354930.2(RIPK1):c.421C>G (p.Pro141Ala)not provided [RCV002700003]uncertain significance630810783081078Humanname
156316734CV2018045single nucleotide variantNM_001354930.2(RIPK1):c.319G>C (p.Glu107Gln)not provided [RCV002671944]uncertain significance630779333077933Humanname
156048878CV2027176single nucleotide variantNM_001354930.2(RIPK1):c.340G>A (p.Val114Ile)not provided [RCV002736444]uncertain significance630809973080997Humanname
156316652CV2028093single nucleotide variantNM_001354930.2(RIPK1):c.716T>A (p.Met239Lys)not provided [RCV002716838]uncertain significance630852863085286Humanname
155911562CV2029330single nucleotide variantNM_001354930.2(RIPK1):c.833T>A (p.Phe278Tyr)not provided [RCV002750181]uncertain significance630854033085403Humanname
155965577CV2034217single nucleotide variantNM_001354930.2(RIPK1):c.412G>T (p.Asp138Tyr)Inborn genetic diseases [RCV002731377]|not provided [RCV002731378]uncertain significance630810693081069Human1name
156005406CV2041902single nucleotide variantNM_001354930.2(RIPK1):c.993C>A (p.Ser331Arg)not provided [RCV002756405]uncertain significance631043023104302Humanname
156370943CV2048795single nucleotide variantNM_001354930.2(RIPK1):c.853T>C (p.Phe285Leu)not provided [RCV002814277]uncertain significance630895953089595Humanname
156326368CV2108593single nucleotide variantNM_001354930.2(RIPK1):c.400G>A (p.Val134Met)not provided [RCV002938106]uncertain significance630810573081057Humanname
156144839CV2122680single nucleotide variantNM_001354930.2(RIPK1):c.962T>G (p.Leu321Arg)not provided [RCV002954360]uncertain significance631042713104271Humanname
156376275CV2124145single nucleotide variantNM_001354930.2(RIPK1):c.430A>G (p.Ile144Val)not provided [RCV002942742]uncertain significance630810873081087Humanname
155962209CV2131953single nucleotide variantNM_001354930.2(RIPK1):c.577A>T (p.Met193Leu)not provided [RCV002995212]uncertain significance630832023083202Humanname
155977080CV2151276single nucleotide variantNM_001354930.2(RIPK1):c.326G>A (p.Ser109Asn)not provided [RCV003033701]uncertain significance630809833080983Humanname
156150650CV2154419single nucleotide variantNM_001354930.2(RIPK1):c.544A>T (p.Thr182Ser)not provided [RCV003022839]uncertain significance630831693083169Humanname
156261072CV2181727single nucleotide variantNM_001354930.2(RIPK1):c.974G>T (p.Cys325Phe)not provided [RCV003044119]uncertain significance631042833104283Humanname
155978734CV2222740single nucleotide variantNM_001354930.2(RIPK1):c.827C>G (p.Pro276Arg)Inborn genetic diseases [RCV002732271]uncertain significance630853973085397Human1name
156360575CV2269065single nucleotide variantNM_001354930.2(RIPK1):c.580G>A (p.Ala194Thr)Inborn genetic diseases [RCV002812757]|not provided [RCV003229940]uncertain significance630832053083205Human1name
156299897CV2306899single nucleotide variantNM_001354930.2(RIPK1):c.721A>G (p.Ile241Val)Inborn genetic diseases [RCV002897848]uncertain significance630852913085291Human1name
401758131CV2704189single nucleotide variantNM_001354930.2(RIPK1):c.605A>G (p.Asn202Ser)Inborn genetic diseases [RCV003256287]uncertain significance630832303083230Human1name
401757983CV2708066single nucleotide variantNM_001354930.2(RIPK1):c.748G>C (p.Asp250His)Inborn genetic diseases [RCV003256236]uncertain significance630853183085318Human1name
401887506CV2771979single nucleotide variantNM_001354930.2(RIPK1):c.854T>A (p.Phe285Tyr)Inborn genetic diseases [RCV003352424]uncertain significance630895963089596Human1name
401915649CV2822654deletionNM_001354930.2(RIPK1):c.915+1166_915+1196delnot provided [RCV003428751]likely benign630907963090826Humanname
401918220CV2822655single nucleotide variantNM_001354930.2(RIPK1):c.994C>T (p.Arg332Trp)not provided [RCV003430077]uncertain significance631043033104303Humanname
405212669CV2878708single nucleotide variantNM_001354930.2(RIPK1):c.488A>T (p.Lys163Met)not provided [RCV003552796]uncertain significance630831133083113Humanname
405161110CV2899308single nucleotide variantNM_001354930.2(RIPK1):c.607G>A (p.Ala203Thr)not provided [RCV003562368]uncertain significance630832323083232Humanname
405069296CV2944744single nucleotide variantNM_001354930.2(RIPK1):c.973T>C (p.Cys325Arg)not provided [RCV003663885]uncertain significance631042823104282Humanname
405082618CV2946294single nucleotide variantNM_001354930.2(RIPK1):c.419A>T (p.Lys140Met)not provided [RCV003664727]uncertain significance630810763081076Humanname
404982126CV2982718single nucleotide variantNM_001354930.2(RIPK1):c.392G>A (p.Gly131Glu)not provided [RCV003691377]uncertain significance630810493081049Humanname
405232843CV2985451single nucleotide variantNM_001354930.2(RIPK1):c.929A>G (p.Asn310Ser)not provided [RCV003711804]uncertain significance631042383104238Humanname
405011996CV2990311single nucleotide variantNM_001354930.2(RIPK1):c.764A>G (p.Tyr255Cys)not provided [RCV003694064]uncertain significance630853343085334Humanname
405177081CV3020021single nucleotide variantNM_001354930.2(RIPK1):c.707A>C (p.Gln236Pro)not provided [RCV003705189]uncertain significance630852773085277Humanname
405149475CV3024259single nucleotide variantNM_001354930.2(RIPK1):c.824G>A (p.Arg275Gln)not provided [RCV003703129]uncertain significance630853943085394Humanname
405088154CV3024871duplicationNM_001354930.2(RIPK1):c.1542dup (p.Pro515fs)not provided [RCV003699477]pathogenic631060163106017Humanname
405209724CV3037347single nucleotide variantNM_001354930.2(RIPK1):c.796C>G (p.Leu266Val)not provided [RCV003708416]uncertain significance630853663085366Humanname
405090937CV3044612single nucleotide variantNM_001354930.2(RIPK1):c.396A>C (p.Lys132Asn)not provided [RCV003717676]uncertain significance630810533081053Humanname
405243410CV3053746single nucleotide variantNM_001354930.2(RIPK1):c.908G>C (p.Ser303Thr)not provided [RCV003719727]uncertain significance630896503089650Humanname
405194319CV3066232single nucleotide variantNM_001354930.2(RIPK1):c.317C>T (p.Ala106Val)not provided [RCV003729907]uncertain significance630779313077931Humanname
405231494CV3070553single nucleotide variantNM_001354930.2(RIPK1):c.541G>A (p.Gly181Ser)not provided [RCV003734922]uncertain significance630831663083166Humanname
404986854CV3135489single nucleotide variantNM_001354930.2(RIPK1):c.695T>C (p.Ile232Thr)not provided [RCV003826784]uncertain significance630852653085265Humanname
405165663CV3160520single nucleotide variantNM_001354930.2(RIPK1):c.410A>G (p.Lys137Arg)not provided [RCV003857400]uncertain significance630810673081067Humanname
405238384CV3169625single nucleotide variantNM_001354930.2(RIPK1):c.679C>A (p.Pro227Thr)not provided [RCV003866713]uncertain significance630833043083304Humanname
402469992CV3171037single nucleotide variantNM_001354930.2(RIPK1):c.760G>C (p.Glu254Gln)not provided [RCV003874000]uncertain significance630853303085330Humanname
405737590CV3319870single nucleotide variantNM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)Inborn genetic diseases [RCV004451881]uncertain significance630896343089634Human1name
405737597CV3319871single nucleotide variantNM_001354930.2(RIPK1):c.898G>A (p.Asp300Asn)Inborn genetic diseases [RCV004451882]uncertain significance630896403089640Human1name
597718465CV3583678single nucleotide variantNM_001354930.2(RIPK1):c.538G>C (p.Asp180His)Inborn genetic diseases [RCV004960140]uncertain significance630831633083163Human1name
597838548CV3736916single nucleotide variantNM_001354930.2(RIPK1):c.809C>T (p.Ala270Val)not provided [RCV005064396]uncertain significance630853793085379Humanname
597907916CV3738958single nucleotide variantNM_001354930.2(RIPK1):c.601G>A (p.Val201Ile)not provided [RCV005073193]uncertain significance630832263083226Humanname
597876378CV3747855single nucleotide variantNM_001354930.2(RIPK1):c.823C>T (p.Arg275Trp)not provided [RCV005069346]uncertain significance630853933085393Humanname
597843800CV3752999single nucleotide variantNM_001354930.2(RIPK1):c.445G>A (p.Asp149Asn)not provided [RCV005086728]uncertain significance630811023081102Humanname
597952789CV3756919single nucleotide variantNM_001354930.2(RIPK1):c.775G>T (p.Glu259Ter)not provided [RCV005079780]pathogenic630853453085345Humanname
597874840CV3766225single nucleotide variantNM_001354930.2(RIPK1):c.901G>C (p.Val301Leu)not provided [RCV005108357]uncertain significance630896433089643Humanname
597855221CV3821775single nucleotide variantNM_001354930.2(RIPK1):c.496A>G (p.Ser166Gly)not provided [RCV005174253]uncertain significance630831213083121Humanname
597952752CV3843827single nucleotide variantNM_001354930.2(RIPK1):c.617C>T (p.Thr206Ile)not provided [RCV005190689]uncertain significance630832423083242Humanname
597863927CV3860796single nucleotide variantNM_001354930.2(RIPK1):c.975T>G (p.Cys325Trp)not provided [RCV005196324]uncertain significance631042843104284Humanname
597937624CV3862739single nucleotide variantNM_001354930.2(RIPK1):c.391G>A (p.Gly131Arg)not provided [RCV005208011]uncertain significance630810483081048Humanname
598176730CV4008178single nucleotide variantNM_001354930.2(RIPK1):c.665T>C (p.Phe222Ser)Immunodeficiency 57 [RCV005393694]uncertain significance630832903083290Human1name , alternate_id
26903162CV858390single nucleotide variantNM_001354930.2(RIPK1):c.970G>A (p.Asp324Asn)Autoinflammation with episodic fever and lymphadenopathy [RCV001089772]|not provided [RCV005056870]pathogenic631042793104279Human1name , alternate_id
26903165CV858391single nucleotide variantNM_001354930.2(RIPK1):c.970G>C (p.Asp324His)Autoinflammation with episodic fever and lymphadenopathy [RCV001089773]|not provided [RCV005056871]pathogenic631042793104279Human1name , alternate_id
26903166CV858392single nucleotide variantNM_001354930.2(RIPK1):c.970G>T (p.Asp324Tyr)Autoinflammation with episodic fever and lymphadenopathy [RCV001089774]pathogenic631042793104279Human1name , alternate_id
26903167CV858393single nucleotide variantNM_001354930.2(RIPK1):c.971A>T (p.Asp324Val)Autoinflammation with episodic fever and lymphadenopathy [RCV001089775]pathogenic631042803104280Human1name , alternate_id
126766313CV991426single nucleotide variantNM_001354930.2(RIPK1):c.521A>C (p.Asn174Thr)not provided [RCV001301835]uncertain significance630831463083146Humanname
126747264CV1016710single nucleotide variantNM_001354930.2(RIPK1):c.1194G>C (p.Gln398His)Immunodeficiency 57 [RCV001331109]|not provided [RCV002070167]likely benign|uncertain significance631056693105669Human1name
126742819CV1020228single nucleotide variantNM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln)Immunodeficiency 57 [RCV001336606]|Inborn genetic diseases [RCV003355404]|not provided [RCV003669235]uncertain significance631131853113185Human2name
126911357CV1044052single nucleotide variantNM_001354930.2(RIPK1):c.1456C>T (p.Pro486Ser)Inborn genetic diseases [RCV002548616]|not provided [RCV001369175]uncertain significance631059313105931Human1name
150547986CV1303953single nucleotide variantNM_001354930.2(RIPK1):c.1757A>T (p.His586Leu)not provided [RCV001764056]uncertain significance631130803113080Humanname
151811831CV1359526single nucleotide variantNM_001354930.2(RIPK1):c.1634A>C (p.Asn545Thr)not provided [RCV001991906]uncertain significance631108603110860Humanname
151790059CV1370319single nucleotide variantNM_001354930.2(RIPK1):c.1200A>T (p.Arg400Ser)not provided [RCV001972964]uncertain significance631056753105675Humanname
151813177CV1373138single nucleotide variantNM_001354930.2(RIPK1):c.1039C>A (p.Gln347Lys)not provided [RCV001900152]uncertain significance631055143105514Humanname
151824960CV1373362single nucleotide variantNM_001354930.2(RIPK1):c.1184C>T (p.Thr395Met)Inborn genetic diseases [RCV004039808]|not provided [RCV001934505]likely benign|uncertain significance631056593105659Human1name
151875616CV1376232single nucleotide variantNM_001354930.2(RIPK1):c.1046T>C (p.Leu349Pro)Inborn genetic diseases [RCV004956103]|not provided [RCV002019500]likely benign|uncertain significance631055213105521Human1name
151737168CV1380091single nucleotide variantNM_001354930.2(RIPK1):c.1632C>G (p.Tyr544Ter)not provided [RCV001946714]pathogenic631108583110858Humanname
151717873CV1380653single nucleotide variantNM_001354930.2(RIPK1):c.1031A>G (p.His344Arg)not provided [RCV002003193]uncertain significance631055063105506Humanname
151748049CV1382987single nucleotide variantNM_001354930.2(RIPK1):c.1141G>A (p.Glu381Lys)not provided [RCV001947830]uncertain significance631056163105616Humanname
151715266CV1385239single nucleotide variantNM_001354930.2(RIPK1):c.1249C>A (p.His417Asn)not provided [RCV002002809]uncertain significance631057243105724Humanname
151768693CV1387988single nucleotide variantNM_001354930.2(RIPK1):c.1559G>C (p.Ser520Thr)Inborn genetic diseases [RCV005271589]|not provided [RCV001970967]likely benign|uncertain significance631060343106034Human1name
151859928CV1389722single nucleotide variantNM_001354930.2(RIPK1):c.1114C>T (p.Pro372Ser)not provided [RCV001905146]uncertain significance631055893105589Humanname
151711926CV1396692single nucleotide variantNM_001354930.2(RIPK1):c.1547C>T (p.Thr516Ile)not provided [RCV001889565]uncertain significance631060223106022Humanname
151878978CV1398607single nucleotide variantNM_001354930.2(RIPK1):c.1591T>C (p.Tyr531His)not provided [RCV002019896]uncertain significance631108173110817Humanname
151760306CV1403931single nucleotide variantNM_001354930.2(RIPK1):c.1906G>A (p.Val636Met)not provided [RCV002007780]uncertain significance631132293113229Humanname
151879939CV1411196single nucleotide variantNM_001354930.2(RIPK1):c.1276T>C (p.Tyr426His)not provided [RCV002020006]uncertain significance631057513105751Humanname
151833714CV1416675single nucleotide variantNM_001354930.2(RIPK1):c.1541C>T (p.Thr514Ile)Inborn genetic diseases [RCV002563560]|not provided [RCV002014559]uncertain significance631060163106016Human1name
151887477CV1426883single nucleotide variantNM_001354930.2(RIPK1):c.1748C>T (p.Thr583Met)Inborn genetic diseases [RCV004671618]|not provided [RCV002038198]uncertain significance631130713113071Human1name
151770302CV1429095single nucleotide variantNM_001354930.2(RIPK1):c.1475C>G (p.Pro492Arg)not provided [RCV001988173]uncertain significance631059503105950Humanname
151794730CV1434331single nucleotide variantNM_001354930.2(RIPK1):c.1210G>T (p.Ala404Ser)not provided [RCV001866574]uncertain significance631056853105685Humanname
151882508CV1443227single nucleotide variantNM_001354930.2(RIPK1):c.1765C>G (p.Pro589Ala)not provided [RCV002037153]uncertain significance631130883113088Humanname
151825506CV1447060single nucleotide variantNM_001354930.2(RIPK1):c.1496G>C (p.Ser499Thr)not provided [RCV001870025]uncertain significance631059713105971Humanname
151849709CV1451971single nucleotide variantNM_001354930.2(RIPK1):c.1273C>T (p.Pro425Ser)not provided [RCV002016408]uncertain significance631057483105748Humanname
151751882CV1457375single nucleotide variantNM_001354930.2(RIPK1):c.1174G>A (p.Asp392Asn)not provided [RCV001913064]uncertain significance631056493105649Humanname
151850747CV1461905single nucleotide variantNM_001354930.2(RIPK1):c.1685C>T (p.Thr562Met)not provided [RCV001978900]uncertain significance631109113110911Humanname
151735090CV1465680single nucleotide variantNM_001354930.2(RIPK1):c.1835T>C (p.Ile612Thr)not provided [RCV002041618]uncertain significance631131583113158Humanname
151855024CV1466230single nucleotide variantNM_001354930.2(RIPK1):c.1043G>T (p.Gly348Val)not provided [RCV001883229]uncertain significance631055183105518Humanname
151742179CV1470218single nucleotide variantNM_001354930.2(RIPK1):c.1406A>G (p.Tyr469Cys)Inborn genetic diseases [RCV005271440]|not provided [RCV001871123]uncertain significance631058813105881Human1name
151780026CV1472492single nucleotide variantNM_001354930.2(RIPK1):c.1808G>A (p.Arg603His)not provided [RCV002026171]uncertain significance631131313113131Humanname
151743112CV1479756single nucleotide variantNM_001354930.2(RIPK1):c.1046T>G (p.Leu349Arg)not provided [RCV001912120]uncertain significance631055213105521Humanname
151805360CV1485868single nucleotide variantNM_001354930.2(RIPK1):c.1713G>C (p.Lys571Asn)not provided [RCV002048357]uncertain significance631109393110939Humanname
151838067CV1487321single nucleotide variantNM_001354930.2(RIPK1):c.1595C>T (p.Thr532Ile)not provided [RCV001935774]uncertain significance631108213110821Humanname
151834895CV1489163single nucleotide variantNM_001354930.2(RIPK1):c.1322G>A (p.Ser441Asn)not provided [RCV001902186]uncertain significance631057973105797Humanname
151858529CV1503500single nucleotide variantNM_001354930.2(RIPK1):c.1595C>A (p.Thr532Asn)not provided [RCV001979826]uncertain significance631108213110821Humanname
151728151CV1511885single nucleotide variantNM_001354930.2(RIPK1):c.1184C>A (p.Thr395Lys)not provided [RCV001983922]uncertain significance631056593105659Humanname
151889173CV1516158inversionNM_001354930.2(RIPK1):c.84_85inv (p.Gly29Arg)not provided [RCV002038549]uncertain significance630769073076908Humanname
152094053CV1648803single nucleotide variantNM_001354930.2(RIPK1):c.1335T>A (p.His445Gln)Immunodeficiency 57 [RCV005397296]|not provided [RCV002078096]likely benign|uncertain significance631058103105810Human1name , alternate_id
152103117CV1667385single nucleotide variantNM_001354930.2(RIPK1):c.1918G>A (p.Gly640Ser)not provided [RCV002214372]uncertain significance631132413113241Humanname
155749685CV1776298single nucleotide variantNM_001354930.2(RIPK1):c.1432C>A (p.Pro478Thr)not provided [RCV002304910]uncertain significance631059073105907Humanname
155732198CV1776364single nucleotide variantNM_001354930.2(RIPK1):c.1186A>G (p.Lys396Glu)not provided [RCV002301750]uncertain significance631056613105661Humanname
155800622CV1863745single nucleotide variantNM_001354930.2(RIPK1):c.1966T>C (p.Cys656Arg)Immunodeficiency 57 [RCV004999774]|not provided [RCV002474168]likely pathogenic|uncertain significance631132893113289Human1name
155998231CV1872599single nucleotide variantNM_001354930.2(RIPK1):c.1655C>T (p.Thr552Met)not provided [RCV003076452]uncertain significance631108813110881Humanname
156193277CV1901806single nucleotide variantNM_001354930.2(RIPK1):c.1021G>A (p.Gly341Ser)Inborn genetic diseases [RCV004068842]|not provided [RCV002595447]likely benign|uncertain significance631054963105496Human1name
156369292CV1905058single nucleotide variantNM_001354930.2(RIPK1):c.1612G>A (p.Gly538Ser)Inborn genetic diseases [RCV004961076]|not provided [RCV002582302]uncertain significance631108383110838Human1name
156262708CV1913687single nucleotide variantNM_001354930.2(RIPK1):c.1330A>T (p.Ser444Cys)not provided [RCV002627821]uncertain significance631058053105805Humanname
156152853CV1961173single nucleotide variantNM_001354930.2(RIPK1):c.1255C>T (p.Pro419Ser)not provided [RCV002572954]uncertain significance631057303105730Humanname
156353832CV1962218single nucleotide variantNM_001354930.2(RIPK1):c.1871T>C (p.Leu624Pro)not provided [RCV002581249]uncertain significance631131943113194Humanname
156355330CV1962350single nucleotide variantNM_001354930.2(RIPK1):c.1991G>A (p.Ser664Asn)Inborn genetic diseases [RCV004064558]|not provided [RCV002581348]likely benign|uncertain significance631133143113314Human1name
156052781CV1974435single nucleotide variantNM_001354930.2(RIPK1):c.1922T>C (p.Ile641Thr)not provided [RCV002590714]uncertain significance631132453113245Humanname
155975122CV1975126single nucleotide variantNM_001354930.2(RIPK1):c.1598T>C (p.Ile533Thr)not provided [RCV002617354]uncertain significance631108243110824Humanname
156235583CV1982411single nucleotide variantNM_001354930.2(RIPK1):c.1585A>G (p.Ile529Val)not provided [RCV002626956]uncertain significance631108113110811Humanname
155994883CV1986830single nucleotide variantNM_001354930.2(RIPK1):c.1647T>G (p.Ile549Met)not provided [RCV002618186]uncertain significance631108733110873Humanname
156215560CV1997436single nucleotide variantNM_001354930.2(RIPK1):c.1270A>G (p.Arg424Gly)not provided [RCV002667016]uncertain significance631057453105745Humanname
156279712CV2011609single nucleotide variantNM_001354930.2(RIPK1):c.1375C>T (p.Pro459Ser)not provided [RCV002715257]uncertain significance631058503105850Humanname
156008148CV2015160single nucleotide variantNM_001354930.2(RIPK1):c.2003T>G (p.Val668Gly)not provided [RCV002690371]uncertain significance631133263113326Humanname
156360010CV2016573single nucleotide variantNM_001354930.2(RIPK1):c.1640T>C (p.Met547Thr)not provided [RCV002720798]uncertain significance631108663110866Humanname
156165168CV2019676single nucleotide variantNM_001354930.2(RIPK1):c.1042G>C (p.Gly348Arg)not provided [RCV002710316]uncertain significance631055173105517Humanname
156173180CV2037903single nucleotide variantNM_001354930.2(RIPK1):c.1010C>T (p.Thr337Ile)not provided [RCV002741922]uncertain significance631054853105485Humanname
156248102CV2049559single nucleotide variantNM_001354930.2(RIPK1):c.1396A>C (p.Asn466His)not provided [RCV002791597]uncertain significance631058713105871Humanname
156120709CV2052299single nucleotide variantNM_001354930.2(RIPK1):c.1360G>A (p.Gly454Arg)not provided [RCV002825287]uncertain significance631058353105835Humanname
156206892CV2103784single nucleotide variantNM_001354930.2(RIPK1):c.1528T>C (p.Tyr510His)RIPK1-related disorder [RCV003898590]|not provided [RCV002931900]uncertain significance631060033106003Human1name , trait , alternate_id
156275035CV2133018single nucleotide variantNM_001354930.2(RIPK1):c.1945C>G (p.Leu649Val)not provided [RCV003009399]uncertain significance631132683113268Humanname
155939205CV2146531single nucleotide variantNM_001354930.2(RIPK1):c.1610C>T (p.Thr537Ile)not provided [RCV003014152]uncertain significance631108363110836Humanname
156070666CV2168855single nucleotide variantNM_001354930.2(RIPK1):c.1150T>C (p.Tyr384His)not provided [RCV003037557]uncertain significance631056253105625Humanname
156339415CV2179657single nucleotide variantNM_001354930.2(RIPK1):c.1882G>A (p.Val628Ile)not provided [RCV003030203]uncertain significance631132053113205Humanname
156086420CV2184509single nucleotide variantNM_001354930.2(RIPK1):c.1151A>G (p.Tyr384Cys)not provided [RCV003054206]uncertain significance631056263105626Humanname
156245906CV2267557single nucleotide variantNM_001354930.2(RIPK1):c.1385T>G (p.Leu462Arg)Inborn genetic diseases [RCV002830815]uncertain significance631058603105860Human1name
156075607CV2291430single nucleotide variantNM_001354930.2(RIPK1):c.1514T>G (p.Val505Gly)Inborn genetic diseases [RCV002887136]uncertain significance631059893105989Human1name
155902087CV2301380single nucleotide variantNM_001354930.2(RIPK1):c.1890G>C (p.Gln630His)Inborn genetic diseases [RCV002901221]uncertain significance631132133113213Human1name
401768264CV2719972single nucleotide variantNM_001354930.2(RIPK1):c.1187A>C (p.Lys396Thr)Inborn genetic diseases [RCV003283136]uncertain significance631056623105662Human1name
401865328CV2778695single nucleotide variantNM_001354930.2(RIPK1):c.1852G>A (p.Asp618Asn)Inborn genetic diseases [RCV003359656]uncertain significance631131753113175Human1name
401862885CV2779060single nucleotide variantNM_001354930.2(RIPK1):c.1756C>T (p.His586Tyr)Inborn genetic diseases [RCV003343424]uncertain significance631130793113079Human1name
401911875CV2795928single nucleotide variantNM_001354930.2(RIPK1):c.1607G>C (p.Ser536Thr)RIPK1-related disorder [RCV003399665]|not provided [RCV003575087]uncertain significance631108333110833Human1name , trait , alternate_id
401933377CV2804151single nucleotide variantNM_001354930.2(RIPK1):c.2002G>A (p.Val668Ile)RIPK1-related disorder [RCV003392876]|not provided [RCV003778289]uncertain significance631133253113325Human1name , trait , alternate_id
405066962CV2875476single nucleotide variantNM_001354930.2(RIPK1):c.1544C>T (p.Pro515Leu)not provided [RCV003548296]uncertain significance631060193106019Humanname
405200787CV2877001single nucleotide variantNM_001354930.2(RIPK1):c.1858G>A (p.Glu620Lys)not provided [RCV003551231]uncertain significance631131813113181Humanname
405170136CV2951235single nucleotide variantNM_001354930.2(RIPK1):c.1471A>G (p.Arg491Gly)not provided [RCV003675352]uncertain significance631059463105946Humanname
405149938CV2959644single nucleotide variantNM_001354930.2(RIPK1):c.1849C>T (p.His617Tyr)not provided [RCV003673934]uncertain significance631131723113172Humanname
405246461CV2965798single nucleotide variantNM_001354930.2(RIPK1):c.1551G>A (p.Met517Ile)not provided [RCV003685405]uncertain significance631060263106026Humanname
405238352CV2970101single nucleotide variantNM_001354930.2(RIPK1):c.1250A>G (p.His417Arg)not provided [RCV003683428]uncertain significance631057253105725Humanname
405048324CV3025301single nucleotide variantNM_001354930.2(RIPK1):c.1690T>C (p.Phe564Leu)not provided [RCV003696823]uncertain significance631109163110916Humanname
405051036CV3025593single nucleotide variantNM_001354930.2(RIPK1):c.1022G>A (p.Gly341Asp)not provided [RCV003696984]uncertain significance631054973105497Humanname
405130774CV3051043single nucleotide variantNM_001354930.2(RIPK1):c.1599A>G (p.Ile533Met)not provided [RCV003724807]uncertain significance631108253110825Humanname
405243736CV3053904single nucleotide variantNM_001354930.2(RIPK1):c.1238G>A (p.Arg413His)not provided [RCV003719805]uncertain significance631057133105713Humanname
405206895CV3064426single nucleotide variantNM_001354930.2(RIPK1):c.1145C>G (p.Ala382Gly)not provided [RCV003731425]uncertain significance631056203105620Humanname
405227722CV3065609single nucleotide variantNM_001354930.2(RIPK1):c.1609A>G (p.Thr537Ala)not provided [RCV003734346]uncertain significance631108353110835Humanname
405104152CV3116649single nucleotide variantNM_001354930.2(RIPK1):c.1674C>G (p.Asp558Glu)not provided [RCV003812173]uncertain significance631109003110900Humanname
405213093CV3127589single nucleotide variantNM_001354930.2(RIPK1):c.1501C>T (p.His501Tyr)not provided [RCV003823637]uncertain significance631059763105976Humanname
405218641CV3135736single nucleotide variantNM_001354930.2(RIPK1):c.1361G>A (p.Gly454Glu)not provided [RCV003824361]uncertain significance631058363105836Humanname
405225830CV3142427single nucleotide variantNM_001354930.2(RIPK1):c.1861C>T (p.Arg621Ter)not provided [RCV003847966]uncertain significance631131843113184Humanname
405166127CV3160558single nucleotide variantNM_001354930.2(RIPK1):c.1529A>G (p.Tyr510Cys)not provided [RCV003857438]uncertain significance631060043106004Humanname
405207370CV3162109single nucleotide variantNM_001354930.2(RIPK1):c.1274C>T (p.Pro425Leu)not provided [RCV003861603]uncertain significance631057493105749Humanname
405208714CV3162498single nucleotide variantNM_001354930.2(RIPK1):c.1978G>A (p.Asp660Asn)not provided [RCV003861797]uncertain significance631133013113301Humanname
405234353CV3168406single nucleotide variantNM_001354930.2(RIPK1):c.1322G>T (p.Ser441Ile)not provided [RCV003865880]uncertain significance631057973105797Humanname
405237133CV3169092single nucleotide variantNM_001354930.2(RIPK1):c.1701G>C (p.Glu567Asp)not provided [RCV003866371]uncertain significance631109273110927Humanname
405242197CV3173273single nucleotide variantNM_001354930.2(RIPK1):c.1453G>C (p.Gly485Arg)not provided [RCV003867558]uncertain significance631059283105928Humanname
402513874CV3178495single nucleotide variantNM_001354930.2(RIPK1):c.1168C>T (p.Arg390Cys)not provided [RCV003879112]uncertain significance631056433105643Humanname
405259097CV3194517single nucleotide variantNM_001354930.2(RIPK1):c.1663T>C (p.Ser555Pro)RIPK1-related disorder [RCV003893914]uncertain significance631108893110889Humanname , trait , alternate_id
405737583CV3319869single nucleotide variantNM_001354930.2(RIPK1):c.1691T>G (p.Phe564Cys)Inborn genetic diseases [RCV004451880]|not provided [RCV005104666]uncertain significance631109173110917Human1name
407475497CV3483308single nucleotide variantNM_001354930.2(RIPK1):c.1127G>A (p.Ser376Asn)Inborn genetic diseases [RCV004663254]uncertain significance631056023105602Human1name
597718451CV3583675single nucleotide variantNM_001354930.2(RIPK1):c.1461A>C (p.Arg487Ser)Inborn genetic diseases [RCV004960138]uncertain significance631059363105936Human1name
597718456CV3583676single nucleotide variantNM_001354930.2(RIPK1):c.1068G>C (p.Glu356Asp)Inborn genetic diseases [RCV004960139]uncertain significance631055433105543Human1name
597718497CV3593625single nucleotide variantNM_001354930.2(RIPK1):c.1473G>T (p.Arg491Ser)Inborn genetic diseases [RCV004960144]uncertain significance631059483105948Human1name
597860315CV3748660single nucleotide variantNM_001354930.2(RIPK1):c.1427C>G (p.Thr476Arg)not provided [RCV005067292]uncertain significance631059023105902Humanname
597971173CV3750645single nucleotide variantNM_001354930.2(RIPK1):c.1646T>C (p.Ile549Thr)not provided [RCV005084389]uncertain significance631108723110872Humanname
597956836CV3754578single nucleotide variantNM_001354930.2(RIPK1):c.1217A>C (p.Asn406Thr)not provided [RCV005080428]uncertain significance631056923105692Humanname
597946450CV3755587single nucleotide variantNM_001354930.2(RIPK1):c.1911G>A (p.Met637Ile)not provided [RCV005078597]uncertain significance631132343113234Humanname
597834561CV3760771single nucleotide variantNM_001354930.2(RIPK1):c.1271G>T (p.Arg424Ile)not provided [RCV005085322]uncertain significance631057463105746Humanname
597952134CV3765563single nucleotide variantNM_001354930.2(RIPK1):c.1946T>C (p.Leu649Pro)not provided [RCV005121207]uncertain significance631132693113269Humanname
597944215CV3782781single nucleotide variantNM_001354930.2(RIPK1):c.1072T>G (p.Trp358Gly)not provided [RCV005134321]uncertain significance631055473105547Humanname
597969347CV3791320single nucleotide variantNM_001354930.2(RIPK1):c.1551G>T (p.Met517Ile)not provided [RCV005141352]uncertain significance631060263106026Humanname
597962301CV3795462single nucleotide variantNM_001354930.2(RIPK1):c.1724T>G (p.Ile575Ser)not provided [RCV005139154]uncertain significance631109503110950Humanname
597965427CV3797136single nucleotide variantNM_001354930.2(RIPK1):c.1951C>T (p.Gln651Ter)not provided [RCV005140096]uncertain significance631132743113274Humanname
597870299CV3799783single nucleotide variantNM_001354930.2(RIPK1):c.1191G>C (p.Gln397His)not provided [RCV005148197]uncertain significance631056663105666Humanname
597873713CV3805504single nucleotide variantNM_001354930.2(RIPK1):c.1706C>T (p.Ala569Val)not provided [RCV005148782]benign631109323110932Humanname
597942960CV3816359single nucleotide variantNM_001354930.2(RIPK1):c.1893G>A (p.Met631Ile)not provided [RCV005159420]uncertain significance631132163113216Humanname
597927057CV3819825single nucleotide variantNM_001354930.2(RIPK1):c.1491G>A (p.Met497Ile)not provided [RCV005156525]uncertain significance631059663105966Humanname
597897508CV3834735single nucleotide variantNM_001354930.2(RIPK1):c.1203G>C (p.Gln401His)not provided [RCV005180646]uncertain significance631056783105678Humanname
597888329CV3859480single nucleotide variantNM_001354930.2(RIPK1):c.1723A>G (p.Ile575Val)not provided [RCV005200136]uncertain significance631109493110949Humanname
597921994CV3861857single nucleotide variantNM_001354930.2(RIPK1):c.1312G>A (p.Ala438Thr)not provided [RCV005205233]uncertain significance631057873105787Humanname
598126792CV3882248single nucleotide variantNM_001354930.2(RIPK1):c.1112A>G (p.Glu371Gly)not provided [RCV005233799]uncertain significance631055873105587Humanname
598228675CV3899177single nucleotide variantNM_001354930.2(RIPK1):c.1870C>A (p.Leu624Met)Inborn genetic diseases [RCV005274169]uncertain significance631131933113193Human1name
14352085CV589848single nucleotide variantNM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter)IL10-related early-onset inflammatory bowel disease [RCV000754604]pathogenic631057533105753Human1name
14352089CV589849single nucleotide variantNM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr)IL10-related early-onset inflammatory bowel disease [RCV000754606]pathogenic631131253113125Human1name
14352081CV589850single nucleotide variantNM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr)IL10-related early-onset inflammatory bowel disease [RCV000754602]pathogenic631131673113167Human1name
14352083CV589851single nucleotide variantNM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)Autoinflammation with episodic fever and lymphadenopathy [RCV003989593]|IL10-related early-onset inflammatory bowel disease [RCV000754603]|Immunodeficiency 57 [RCV001331110]|See cases [RCV003324714]|not provided [RCV001855836]pathogenic|likely pathogenic|uncertain significance631132573113257Human2name , alternate_id
126727570CV991427single nucleotide variantNM_001354930.2(RIPK1):c.1955C>T (p.Ala652Val)not provided [RCV001303188]uncertain significance631132783113278Humanname
151863932CV1374527microsatelliteNM_001354930.2(RIPK1):c.552GAA[1] (p.Lys185del)not provided [RCV001884302]uncertain significance630831753083177Humanname
151740900CV1478035deletionNM_001354930.2(RIPK1):c.528_532del (p.Arg177fs)Immunodeficiency 57 [RCV003152783]|not provided [RCV001947094]pathogenic630831533083157Human1name
402495142CV2978613deletionNM_001354930.2(RIPK1):c.569_585del (p.Leu190fs)not provided [RCV003714179]pathogenic630831913083207Humanname
151855837CV1372972microsatelliteNM_001354930.2(RIPK1):c.1666CTA[1] (p.Leu557del)not provided [RCV001996527]uncertain significance631108913110893Humanname
597928045CV3749086microsatelliteNM_001354930.2(RIPK1):c.1101AGA[1] (p.Glu369del)not provided [RCV005075542]uncertain significance631055753105577Humanname
153000389CV1683013deletionNM_001354930.2(RIPK1):c.1458_1459del (p.Arg487fs)See cases [RCV002253023]likely pathogenic631059333105934Humanname
156344740CV1995090microsatelliteNM_001354930.2(RIPK1):c.1803_1804del (p.Ala602fs)not provided [RCV002650510]uncertain significance631131243113125Humanname
126908688CV969919deletionNM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs)Hereditary breast ovarian cancer syndrome [RCV001374515]pathogenic631131253113128Human1name
405288638CV3193745indelNM_001354930.2(RIPK1):c.82_84delinsCTC (p.Phe28Leu)RIPK1-related disorder [RCV003982751]uncertain significance630769053076907Humanname , trait , alternate_id
156362253CV2016761insertionNM_001354930.2(RIPK1):c.1682_1683insAAAA (p.Asn561fs)Immunodeficiency 57 [RCV003147784]|not provided [RCV002720944]likely pathogenic|uncertain significance631109053110906Human1name
127301637CV1155322indelNM_001354930.2(RIPK1):c.1706_1707delinsTC (p.Ala569Val)not provided [RCV001514758]benign631109323110933Humanname
151819426CV1488277deletionNM_001354930.2(RIPK1):c.2014_*1del (p.Ter672ProextTer?)not provided [RCV001975583]uncertain significance631133343113337Humanname
405218238CV2968667indelNM_001354930.2(RIPK1):c.1122_1123delinsAA (p.Gln375Lys)Immunodeficiency 57 [RCV004546804]|not provided [RCV003680307]uncertain significance631055973105598Humanname
13797814CV552270microsatelliteNM_001354930.2(RIPK1):c.867_870del (p.Phe288_Tyr289insTer)Immunodeficiency 57 [RCV000680190]pathogenic630896053089608Humanname
155956021CV2086980duplicationNM_001354930.2(RIPK1):c.424_429dup (p.Asn143_Ile144insGluAsn)not provided [RCV002862607]uncertain significance630810793081080Humanname