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


90 records found for search term Foxj1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150474409CV1234446single nucleotide variantNM_001454.4(FOXJ1):c.*189G>Anot provided [RCV001651766]benign177613716476137164Humanname
150430322CV1230822duplicationNM_001454.4(FOXJ1):c.499-124dupnot provided [RCV001641371]benign177613823776138238Humanname
150495795CV1225164single nucleotide variantNM_001454.4(FOXJ1):c.-169-173G>Cnot provided [RCV001619642]benign177614073776140737Humanname
405279704CV3191470single nucleotide variantNM_001454.4(FOXJ1):c.279G>A (p.Ser93=)FOXJ1-related disorder [RCV003919624]likely benign177614011776140117Humanname , trait , alternate_id
405261330CV3209830single nucleotide variantNM_001454.4(FOXJ1):c.222C>A (p.Pro74=)FOXJ1-related disorder [RCV003944495]likely benign177614017476140174Humanname , trait , alternate_id
407494047CV3442727single nucleotide variantNM_001454.4(FOXJ1):c.15G>T (p.Trp5Cys)Inborn genetic diseases [RCV004621219]uncertain significance177614038176140381Human1name
597669441CV3673193single nucleotide variantNM_001454.4(FOXJ1):c.12C>G (p.Ser4Arg)Inborn genetic diseases [RCV004980060]uncertain significance177614038476140384Human1name
597629879CV3716291single nucleotide variantNM_001454.4(FOXJ1):c.17T>G (p.Leu6Arg)Ciliary dyskinesia, primary, 43 [RCV005022767]uncertain significance177614037976140379Human1name
598222834CV3893926single nucleotide variantNM_001454.4(FOXJ1):c.261G>A (p.Thr87=)not provided [RCV005257169]likely benign177614013576140135Humanname
150458822CV1248997single nucleotide variantNM_001454.4(FOXJ1):c.726G>A (p.Thr242=)not provided [RCV001669174]benign177613789376137893Humanname
401914819CV2808409single nucleotide variantNM_001454.4(FOXJ1):c.52G>A (p.Gly18Arg)not provided [RCV003428485]uncertain significance177614034476140344Humanname
405274338CV3211727single nucleotide variantNM_001454.4(FOXJ1):c.732T>C (p.Asn244=)FOXJ1-related disorder [RCV003951527]likely benign177613788776137887Humanname , trait , alternate_id
408380428CV3517874single nucleotide variantNM_001454.4(FOXJ1):c.798C>T (p.Gly266=)FOXJ1-related disorder [RCV004754218]likely benign177613782176137821Humanname , trait , alternate_id
596938263CV3550070duplicationNM_001454.4(FOXJ1):c.223dup (p.Leu75fs)Ciliary dyskinesia, primary, 43 [RCV004813375]likely pathogenic177614017276140173Human1name
598217011CV3973852single nucleotide variantNM_001454.4(FOXJ1):c.28G>A (p.Gly10Arg)Inborn genetic diseases [RCV005339951]uncertain significance177614036876140368Human1name
151235041CV1318300deletionNM_001454.4(FOXJ1):c.837del (p.Lys280fs)not provided [RCV001794623]uncertain significance177613778276137782Humanname
156232987CV2245215single nucleotide variantNM_001454.4(FOXJ1):c.233A>C (p.Asp78Ala)Inborn genetic diseases [RCV002767774]uncertain significance177614016376140163Human1name
156277852CV2252036single nucleotide variantNM_001454.4(FOXJ1):c.289T>G (p.Ser97Ala)Inborn genetic diseases [RCV002792887]uncertain significance177614010776140107Human1name
401936374CV2803214deletionNM_001454.4(FOXJ1):c.832del (p.Leu278fs)FOXJ1-related disorder [RCV003414355]likely pathogenic177613778776137787Humanname , trait , alternate_id
405161575CV2950390single nucleotide variantNM_001454.4(FOXJ1):c.269A>G (p.Lys90Arg)not provided [RCV003674721]uncertain significance177614012776140127Humanname
405274337CV3195093single nucleotide variantNM_001454.4(FOXJ1):c.1086G>A (p.Ser362=)FOXJ1-related disorder [RCV003902331]likely benign177613753376137533Humanname , trait , alternate_id
405744499CV3226118duplicationNM_001454.4(FOXJ1):c.913dup (p.Leu305fs)Ciliary dyskinesia, primary, 43 [RCV003991109]likely pathogenic177613770576137706Human1name
405747889CV3254022single nucleotide variantNM_001454.4(FOXJ1):c.146C>T (p.Ala49Val)Inborn genetic diseases [RCV004392287]uncertain significance177614025076140250Human1name
407494041CV3442725single nucleotide variantNM_001454.4(FOXJ1):c.289T>A (p.Ser97Thr)Inborn genetic diseases [RCV004621217]uncertain significance177614010776140107Human1name
408385191CV3505776single nucleotide variantNM_001454.4(FOXJ1):c.161C>T (p.Pro54Leu)FOXJ1-related disorder [RCV004732425]uncertain significance177614023576140235Humanname , trait , alternate_id
408366162CV3515605single nucleotide variantNM_001454.4(FOXJ1):c.1023C>T (p.His341=)FOXJ1-related disorder [RCV004755593]likely benign177613759676137596Humanname , trait , alternate_id
408366206CV3516851single nucleotide variantNM_001454.4(FOXJ1):c.194T>C (p.Val65Ala)FOXJ1-related disorder [RCV004755687]uncertain significance177614020276140202Humanname , trait , alternate_id
597669429CV3673191single nucleotide variantNM_001454.4(FOXJ1):c.192G>C (p.Gln64His)Inborn genetic diseases [RCV004980058]uncertain significance177614020476140204Human1name
597669436CV3673192single nucleotide variantNM_001454.4(FOXJ1):c.187C>G (p.His63Asp)Inborn genetic diseases [RCV004980059]uncertain significance177614020976140209Human1name
597669453CV3673195single nucleotide variantNM_001454.4(FOXJ1):c.293G>C (p.Arg98Pro)Inborn genetic diseases [RCV004980062]uncertain significance177614010376140103Human1name
597669463CV3673198single nucleotide variantNM_001454.4(FOXJ1):c.224T>C (p.Leu75Pro)Inborn genetic diseases [RCV004980064]uncertain significance177614017276140172Human1name
597656495CV3731581single nucleotide variantNM_001454.4(FOXJ1):c.174C>A (p.Asp58Glu)not provided [RCV005001762]uncertain significance177614022276140222Humanname
598216997CV3973850single nucleotide variantNM_001454.4(FOXJ1):c.293G>A (p.Arg98Gln)Inborn genetic diseases [RCV005339949]uncertain significance177614010376140103Human1name
598177379CV4008284single nucleotide variantNM_001454.4(FOXJ1):c.280T>C (p.Ser94Pro)Ciliary dyskinesia, primary, 43 [RCV005393802]uncertain significance177614011676140116Human1name
15146927CV788387deletionNM_001454.4(FOXJ1):c.967del (p.Glu323fs)Ciliary dyskinesia, primary, 43 [RCV000983976]pathogenic177613765276137652Human1name
151235149CV1318410single nucleotide variantNM_001454.4(FOXJ1):c.958C>G (p.Leu320Val)not provided [RCV001794733]uncertain significance177613766176137661Humanname
156228366CV2199401single nucleotide variantNM_001454.4(FOXJ1):c.973G>C (p.Gly325Arg)Inborn genetic diseases [RCV002644783]uncertain significance177613764676137646Human1name
156370658CV2204278single nucleotide variantNM_001454.4(FOXJ1):c.857C>T (p.Pro286Leu)Inborn genetic diseases [RCV002652780]uncertain significance177613776276137762Human1name
155916959CV2278466single nucleotide variantNM_001454.4(FOXJ1):c.740C>T (p.Ala247Val)Inborn genetic diseases [RCV002859103]uncertain significance177613787976137879Human1name
156290341CV2309814single nucleotide variantNM_001454.4(FOXJ1):c.887C>T (p.Pro296Leu)Inborn genetic diseases [RCV002897130]uncertain significance177613773276137732Human1name
329387126CV2436277single nucleotide variantNM_001454.4(FOXJ1):c.859C>T (p.Arg287Trp)Inborn genetic diseases [RCV003189969]uncertain significance177613776076137760Human1name
401748869CV2694523single nucleotide variantNM_001454.4(FOXJ1):c.709C>G (p.Arg237Gly)Inborn genetic diseases [RCV003253198]uncertain significance177613791076137910Human1name
401770691CV2707351single nucleotide variantNM_001454.4(FOXJ1):c.709C>T (p.Arg237Trp)Inborn genetic diseases [RCV003261187]likely benign177613791076137910Human1name
401948047CV2832162single nucleotide variantNM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)Ciliary dyskinesia, primary, 43 [RCV003447687]uncertain significance177613999376139993Human1name
405274049CV3194969single nucleotide variantNM_001454.4(FOXJ1):c.782C>T (p.Ala261Val)FOXJ1-related disorder [RCV003902211]likely benign177613783776137837Humanname , trait , alternate_id
405275413CV3204700single nucleotide variantNM_001454.4(FOXJ1):c.725C>T (p.Thr242Met)FOXJ1-related disorder [RCV003952095]likely benign177613789476137894Humanname , trait , alternate_id
405271934CV3206254single nucleotide variantNM_001454.4(FOXJ1):c.331G>A (p.Asp111Asn)FOXJ1-related disorder [RCV003971897]likely benign177614006576140065Humanname , trait , alternate_id
405710643CV3225710single nucleotide variantNM_001454.4(FOXJ1):c.722T>C (p.Leu241Pro)Ciliary dyskinesia, primary, 43 [RCV003990768]uncertain significance177613789776137897Human1name
405747896CV3254023single nucleotide variantNM_001454.4(FOXJ1):c.586C>T (p.Arg196Cys)Inborn genetic diseases [RCV004392288]uncertain significance177613803376138033Human1name
405747902CV3254024single nucleotide variantNM_001454.4(FOXJ1):c.625G>A (p.Ala209Thr)Inborn genetic diseases [RCV004392289]uncertain significance177613799476137994Human1name
405747909CV3254025single nucleotide variantNM_001454.4(FOXJ1):c.682G>T (p.Ala228Ser)Inborn genetic diseases [RCV004392290]uncertain significance177613793776137937Human1name
405747915CV3254026single nucleotide variantNM_001454.4(FOXJ1):c.949G>T (p.Ala317Ser)Inborn genetic diseases [RCV004392291]uncertain significance177613767076137670Human1name
407453403CV3414879deletionNM_001454.4(FOXJ1):c.1129del (p.Leu377fs)Ciliary dyskinesia, primary, 43 [RCV004597215]not provided177613749076137490Humanname
407494043CV3442726single nucleotide variantNM_001454.4(FOXJ1):c.676C>A (p.Arg226Ser)Inborn genetic diseases [RCV004621218]uncertain significance177613794376137943Human1name
408365660CV3508261single nucleotide variantNM_001454.4(FOXJ1):c.322C>T (p.Pro108Ser)FOXJ1-related disorder [RCV004755124]|Inborn genetic diseases [RCV004981184]likely benign|uncertain significance177614007476140074Human2name , trait , alternate_id
408365984CV3512677single nucleotide variantNM_001454.4(FOXJ1):c.821G>A (p.Arg274His)FOXJ1-related disorder [RCV004755435]uncertain significance177613779876137798Humanname , trait , alternate_id
596933061CV3539691single nucleotide variantNM_001454.4(FOXJ1):c.625G>C (p.Ala209Pro)not provided [RCV004794316]uncertain significance177613799476137994Humanname
596933062CV3539692single nucleotide variantNM_001454.4(FOXJ1):c.332A>G (p.Asp111Gly)not provided [RCV004794317]uncertain significance177614006476140064Humanname
597669424CV3673190single nucleotide variantNM_001454.4(FOXJ1):c.676C>T (p.Arg226Cys)Inborn genetic diseases [RCV004980057]uncertain significance177613794376137943Human1name
597669447CV3673194single nucleotide variantNM_001454.4(FOXJ1):c.841C>T (p.Arg281Trp)Inborn genetic diseases [RCV004980061]uncertain significance177613777876137778Human1name
597669458CV3673196single nucleotide variantNM_001454.4(FOXJ1):c.485A>T (p.Asp162Val)Inborn genetic diseases [RCV004980063]uncertain significance177613991176139911Human1name
597669471CV3673199single nucleotide variantNM_001454.4(FOXJ1):c.850A>G (p.Lys284Glu)Inborn genetic diseases [RCV004980065]uncertain significance177613776976137769Human1name
597669478CV3673200single nucleotide variantNM_001454.4(FOXJ1):c.755G>A (p.Arg252Gln)Inborn genetic diseases [RCV004980066]uncertain significance177613786476137864Human1name
598217004CV3973851single nucleotide variantNM_001454.4(FOXJ1):c.724A>G (p.Thr242Ala)Inborn genetic diseases [RCV005339950]uncertain significance177613789576137895Human1name
598217025CV3973855single nucleotide variantNM_001454.4(FOXJ1):c.559G>A (p.Asp187Asn)Inborn genetic diseases [RCV005339954]uncertain significance177613806076138060Human1name
617150715CV4018816single nucleotide variantNM_001454.4(FOXJ1):c.509G>A (p.Arg170His)not provided [RCV005423224]uncertain significance177613811076138110Humanname
15146921CV788384single nucleotide variantNM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)Ciliary dyskinesia, primary, 43 [RCV000983973]pathogenic177613771876137718Human1name
15146923CV788386single nucleotide variantNM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)Ciliary dyskinesia, primary, 43 [RCV000983975]|not provided [RCV003329352]pathogenic177613779376137793Human1name
155800745CV1860234single nucleotide variantNM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)Ciliary dyskinesia, primary, 43 [RCV002466875]|Inborn genetic diseases [RCV004067558]likely benign|uncertain significance177613760476137604Human2name
156140444CV2202981single nucleotide variantNM_001454.4(FOXJ1):c.1036C>G (p.Leu346Val)Inborn genetic diseases [RCV002641242]uncertain significance177613758376137583Human1name
156102019CV2260385single nucleotide variantNM_001454.4(FOXJ1):c.1129C>G (p.Leu377Val)Inborn genetic diseases [RCV002799187]uncertain significance177613749076137490Human1name
155985348CV2282273single nucleotide variantNM_001454.4(FOXJ1):c.1220T>G (p.Leu407Arg)Inborn genetic diseases [RCV002864030]uncertain significance177613739976137399Human1name
156170627CV2296840single nucleotide variantNM_001454.4(FOXJ1):c.1210G>A (p.Asp404Asn)Inborn genetic diseases [RCV002891381]uncertain significance177613740976137409Human1name
155955605CV2303929single nucleotide variantNM_001454.4(FOXJ1):c.1051C>T (p.Arg351Cys)Inborn genetic diseases [RCV002905526]uncertain significance177613756876137568Human1name
156383271CV2361476single nucleotide variantNM_001454.4(FOXJ1):c.1111G>A (p.Asp371Asn)Inborn genetic diseases [RCV002679155]uncertain significance177613750876137508Human1name
401907525CV2801144single nucleotide variantNM_001454.4(FOXJ1):c.1116C>G (p.Phe372Leu)FOXJ1-related disorder [RCV003397385]uncertain significance177613750376137503Humanname , trait , alternate_id
405289976CV3219151single nucleotide variantNM_001454.4(FOXJ1):c.1263G>T (p.Leu421Phe)FOXJ1-related disorder [RCV003962065]likely benign177613735676137356Humanname , trait , alternate_id
405747853CV3254017single nucleotide variantNM_001454.4(FOXJ1):c.1024G>A (p.Val342Met)Inborn genetic diseases [RCV004392282]uncertain significance177613759576137595Human1name
405747860CV3254018single nucleotide variantNM_001454.4(FOXJ1):c.1048G>A (p.Gly350Ser)Inborn genetic diseases [RCV004392283]uncertain significance177613757176137571Human1name
405747866CV3254019single nucleotide variantNM_001454.4(FOXJ1):c.1148A>C (p.Gln383Pro)Inborn genetic diseases [RCV004392284]uncertain significance177613747176137471Human1name
405747874CV3254020single nucleotide variantNM_001454.4(FOXJ1):c.1239C>G (p.Asp413Glu)Inborn genetic diseases [RCV004392285]uncertain significance177613738076137380Human1name
405747881CV3254021single nucleotide variantNM_001454.4(FOXJ1):c.1249G>A (p.Val417Met)Inborn genetic diseases [RCV004392286]uncertain significance177613737076137370Human1name
408383690CV3506832single nucleotide variantNM_001454.4(FOXJ1):c.1111G>C (p.Asp371His)FOXJ1-related disorder [RCV004730725]uncertain significance177613750876137508Humanname , trait , alternate_id
596946216CV3550478single nucleotide variantNM_001454.4(FOXJ1):c.1237G>T (p.Asp413Tyr)Ciliary dyskinesia, primary, 43 [RCV004819019]uncertain significance177613738276137382Human1name
598217016CV3973853single nucleotide variantNM_001454.4(FOXJ1):c.1126T>C (p.Phe376Leu)Inborn genetic diseases [RCV005339952]uncertain significance177613749376137493Human1name
598217019CV3973854single nucleotide variantNM_001454.4(FOXJ1):c.1051C>G (p.Arg351Gly)Inborn genetic diseases [RCV005339953]uncertain significance177613756876137568Human1name
598217028CV3973856single nucleotide variantNM_001454.4(FOXJ1):c.1195C>G (p.Leu399Val)Inborn genetic diseases [RCV005339955]uncertain significance177613742476137424Human1name
15173331CV788385duplicationNM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)Ciliary dyskinesia, primary, 43 [RCV000983974]pathogenic177613774776137748Human1name
408384751CV3504563deletionNM_001454.4(FOXJ1):c.464_466del (p.Phe155del)FOXJ1-related disorder [RCV004732002]uncertain significance177613993076139932Humanname , trait , alternate_id
407424969CV3411017duplicationNM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs)not provided [RCV004588707]uncertain significance177613757876137579Humanname