Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


68 records found for search term Gfra1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405291462CV3205734single nucleotide variantNM_005264.8(GFRA1):c.41-6C>AGFRA1-related disorder [RCV003963872]likely benign10116271121116271121Humanname , trait , alternate_id
405283677CV3191797single nucleotide variantNM_005264.8(GFRA1):c.770+5G>TGFRA1-related disorder [RCV003921896]likely benign10116125216116125216Humanname , trait , alternate_id
405257917CV3207956single nucleotide variantNM_005264.8(GFRA1):c.880+9C>TGFRA1-related disorder [RCV003941425]likely benign10116096646116096646Humanname , trait , alternate_id
405277298CV3195386single nucleotide variantNM_005264.8(GFRA1):c.1251+8T>GGFRA1-related disorder [RCV003904174]likely benign10116065565116065565Humanname , trait , alternate_id
8651640CV128215single nucleotide variantNM_001145453.1(GFRA1):c.756-10029C>TLung cancer [RCV000108702]uncertain significance10116106793116106793Humanname
8651641CV128216single nucleotide variantNM_001145453.1(GFRA1):c.756-11207C>GLung cancer [RCV000108703]uncertain significance10116107971116107971Humanname
8651642CV128217single nucleotide variantNM_001145453.1(GFRA1):c.756-12667A>GLung cancer [RCV000108704]uncertain significance10116109431116109431Humanname
8651643CV128218single nucleotide variantNM_001145453.1(GFRA1):c.755+12853C>ALung cancer [RCV000108705]uncertain significance10116112368116112368Humanname
8651644CV128219single nucleotide variantNM_001145453.1(GFRA1):c.419-17919G>CLung cancer [RCV000108706]uncertain significance10116143476116143476Humanname
8651645CV128220single nucleotide variantNM_001145453.1(GFRA1):c.419-20948G>TLung cancer [RCV000108707]uncertain significance10116146505116146505Humanname
8651646CV128221single nucleotide variantNM_001145453.1(GFRA1):c.419-47730C>TLung cancer [RCV000108708]uncertain significance10116173287116173287Humanname
8651647CV128222single nucleotide variantNM_001145453.1(GFRA1):c.418+67951C>GLung cancer [RCV000108709]uncertain significance10116201552116201552Humanname
15174157CV679089single nucleotide variantNM_005264.8(GFRA1):c.1A>T (p.Met1Leu)Aganglionic megacolon [RCV000984709]pathogenic|uncertain significance10116272029116272029Human2name
405268748CV3199070single nucleotide variantNM_005264.8(GFRA1):c.282G>A (p.Lys94=)GFRA1-related disorder [RCV003912175]benign10116270874116270874Humanname , trait , alternate_id
405280372CV3200739single nucleotide variantNM_005264.8(GFRA1):c.552C>T (p.Asn184=)GFRA1-related disorder [RCV003977364]benign10116125439116125439Humanname , trait , alternate_id
596946002CV3548169single nucleotide variantNM_005264.8(GFRA1):c.519G>A (p.Ala173=)not provided [RCV004809500]likely benign10116125472116125472Humanname
15140901CV712177single nucleotide variantNM_005264.8(GFRA1):c.747C>T (p.Ser249=)GFRA1-related disorder [RCV003916210]|not provided [RCV000966219]benign|likely benign10116125244116125244Human1name , trait , alternate_id
15134603CV712178single nucleotide variantNM_005264.8(GFRA1):c.41A>C (p.Asp14Ala)GFRA1-related disorder [RCV003916173]|not provided [RCV000965154]benign10116271115116271115Human1name , trait , alternate_id
15118442CV751968single nucleotide variantNM_005264.8(GFRA1):c.861C>T (p.Leu287=)not provided [RCV000917975]likely benign10116096674116096674Humanname
15196370CV751969single nucleotide variantNM_005264.8(GFRA1):c.831T>C (p.Cys277=)not provided [RCV000911677]likely benign10116096704116096704Humanname
15162711CV751970single nucleotide variantNM_005264.8(GFRA1):c.450A>G (p.Lys150=)not provided [RCV000925952]likely benign10116125541116125541Humanname
151235373CV1318654single nucleotide variantNM_005264.8(GFRA1):c.253T>A (p.Tyr85Asn)GFRA1-related disorder [RCV003976190]|not provided [RCV004718975]|not specified [RCV001794984]benign10116270903116270903Human4name , trait , alternate_id
151235373CV1318654single nucleotide variantNM_005264.8(GFRA1):c.253T>A (p.Tyr85Asn)GFRA1-related disorder [RCV003976190]|not provided [RCV004718975]|not specified [RCV001794984]benign10116270903116270904Human4name , trait , alternate_id
156037236CV2313439single nucleotide variantNM_005264.8(GFRA1):c.200A>G (p.Glu67Gly)not specified [RCV004163756]uncertain significance10116270956116270956Humanname
329390682CV2440282single nucleotide variantNM_005264.8(GFRA1):c.257A>G (p.Asn86Ser)not specified [RCV004262767]uncertain significance10116270899116270899Humanname
405289003CV3204915single nucleotide variantNM_005264.8(GFRA1):c.1002C>T (p.Asp334=)GFRA1-related disorder [RCV003961560]benign10116093715116093715Humanname , trait , alternate_id
405279546CV3217519single nucleotide variantNM_005264.8(GFRA1):c.1392A>G (p.Thr464=)GFRA1-related disorder [RCV003976913]likely benign10116064404116064404Humanname , trait , alternate_id
408367260CV3508580duplicationNM_005264.8(GFRA1):c.792dup (p.Thr265fs)GFRA1-related disorder [RCV004758325]|not provided [RCV004818796]pathogenic|likely pathogenic10116096742116096743Human1name , trait , alternate_id
598250696CV3967083single nucleotide variantNM_005264.8(GFRA1):c.282G>C (p.Lys94Asn)not specified [RCV005345754]uncertain significance10116270874116270874Humanname
15199794CV701193single nucleotide variantNM_005264.8(GFRA1):c.1344G>C (p.Leu448=)not provided [RCV000957142]likely benign10116064452116064452Humanname
152982121CV1679084single nucleotide variantNM_005264.8(GFRA1):c.676C>T (p.Arg226Ter)Renal hypodysplasia/aplasia 4 [RCV002248437]pathogenic|likely pathogenic10116125315116125315Human1name
152982122CV1679085deletionNM_005264.8(GFRA1):c.1294del (p.Thr432fs)Renal hypodysplasia/aplasia 4 [RCV002248438]pathogenic10116064502116064502Human1name
152982123CV1679086single nucleotide variantNM_005264.8(GFRA1):c.628G>T (p.Gly210Ter)Renal hypodysplasia/aplasia 4 [RCV002248439]pathogenic10116125363116125363Human1name
155268239CV1701676single nucleotide variantNM_005264.8(GFRA1):c.362A>G (p.Tyr121Cys)Renal hypodysplasia/aplasia 4 [RCV002283906]uncertain significance10116269559116269559Human1name
10411761CV188096single nucleotide variantNM_005264.8(GFRA1):c.779T>C (p.Leu260Pro)Hirschsprung disease, susceptibility to, 1 [RCV000201303]uncertain significance10116096756116096756Human1name
156074208CV2201461single nucleotide variantNM_005264.8(GFRA1):c.433G>C (p.Val145Leu)not specified [RCV004079613]uncertain significance10116211631116211631Humanname
155961334CV2249696single nucleotide variantNM_005264.8(GFRA1):c.804G>T (p.Gln268His)not specified [RCV004120680]uncertain significance10116096731116096731Humanname
156294114CV2306389single nucleotide variantNM_005264.8(GFRA1):c.725A>G (p.Asn242Ser)not specified [RCV004163084]uncertain significance10116125266116125266Humanname
156157765CV2314477single nucleotide variantNM_005264.8(GFRA1):c.568C>T (p.Arg190Cys)not specified [RCV004168581]uncertain significance10116125423116125423Humanname
156179210CV2331374single nucleotide variantNM_005264.8(GFRA1):c.551A>G (p.Asn184Ser)not specified [RCV004184013]uncertain significance10116125440116125440Humanname
156327852CV2332162single nucleotide variantNM_005264.8(GFRA1):c.776G>A (p.Arg259His)not specified [RCV004189198]uncertain significance10116096759116096759Humanname
329350634CV2421756single nucleotide variantNM_005264.8(GFRA1):c.671G>A (p.Arg224Gln)not provided [RCV003159459]uncertain significance10116125320116125320Humanname
329392990CV2469147single nucleotide variantNM_005264.8(GFRA1):c.610C>T (p.Pro204Ser)not specified [RCV004274372]uncertain significance10116125381116125381Humanname
329398494CV2471568single nucleotide variantNM_005264.8(GFRA1):c.847G>A (p.Ala283Thr)not specified [RCV004286869]uncertain significance10116096688116096688Humanname
329398497CV2471569single nucleotide variantNM_005264.8(GFRA1):c.848C>A (p.Ala283Asp)not specified [RCV004286870]uncertain significance10116096687116096687Humanname
401899077CV2786008single nucleotide variantNM_005264.8(GFRA1):c.325A>G (p.Ser109Gly)not specified [RCV004359842]uncertain significance10116270831116270831Humanname
401882265CV2793427single nucleotide variantNM_005264.8(GFRA1):c.782C>T (p.Ala261Val)not specified [RCV004362519]uncertain significance10116096753116096753Humanname
405290103CV3214069single nucleotide variantNM_005264.8(GFRA1):c.650G>A (p.Arg217Gln)GFRA1-related disorder [RCV003926910]likely benign10116125341116125341Humanname , trait , alternate_id
405266872CV3218420single nucleotide variantNM_005264.8(GFRA1):c.755C>T (p.Thr252Met)GFRA1-related disorder [RCV003947257]likely benign10116125236116125236Humanname , trait , alternate_id
405786762CV3258330single nucleotide variantNM_005264.8(GFRA1):c.633G>A (p.Met211Ile)not specified [RCV004387834]uncertain significance10116125358116125358Humanname
405786766CV3258331single nucleotide variantNM_005264.8(GFRA1):c.754A>G (p.Thr252Ala)not specified [RCV004387835]uncertain significance10116125237116125237Humanname
407512900CV3433033single nucleotide variantNM_005264.8(GFRA1):c.620A>G (p.His207Arg)not specified [RCV004626950]uncertain significance10116125371116125371Humanname
407512903CV3433034single nucleotide variantNM_005264.8(GFRA1):c.353A>T (p.Asp118Val)not specified [RCV004626951]uncertain significance10116269568116269568Humanname
407503822CV3433035single nucleotide variantNM_005264.8(GFRA1):c.658G>A (p.Ala220Thr)not specified [RCV004623872]uncertain significance10116125333116125333Humanname
597758878CV3684192single nucleotide variantNM_005264.8(GFRA1):c.326G>A (p.Ser109Asn)not specified [RCV004925383]uncertain significance10116270830116270830Humanname
597758883CV3684193single nucleotide variantNM_005264.8(GFRA1):c.490G>A (p.Asp164Asn)not specified [RCV004925384]uncertain significance10116125501116125501Humanname
597705291CV3684195single nucleotide variantNM_005264.8(GFRA1):c.809A>G (p.Glu270Gly)not specified [RCV004916874]uncertain significance10116096726116096726Humanname
598220180CV3967082single nucleotide variantNM_005264.8(GFRA1):c.563A>C (p.Asn188Thr)not specified [RCV005340410]uncertain significance10116125428116125428Humanname
155906273CV2283461single nucleotide variantNM_005264.8(GFRA1):c.1217A>C (p.Asn406Thr)not specified [RCV004139681]uncertain significance10116065607116065607Humanname
155908013CV2387193single nucleotide variantNM_005264.8(GFRA1):c.1145G>C (p.Gly382Ala)not specified [RCV004238297]uncertain significance10116089793116089793Humanname
401746849CV2691998single nucleotide variantNM_005264.8(GFRA1):c.1037G>A (p.Gly346Asp)not specified [RCV004301725]uncertain significance10116089901116089901Humanname
401764330CV2727909single nucleotide variantNM_005264.8(GFRA1):c.1229A>G (p.Asn410Ser)not specified [RCV004324098]likely benign10116065595116065595Humanname
405287835CV3217985single nucleotide variantNM_005264.8(GFRA1):c.1096A>G (p.Thr366Ala)GFRA1-related disorder [RCV003982109]benign10116089842116089842Human1name , trait , alternate_id
405287835CV3217985single nucleotide variantNM_005264.8(GFRA1):c.1096A>G (p.Thr366Ala)GFRA1-related disorder [RCV003982109]benign10116089842116089843Human1name , trait , alternate_id
405786756CV3258329single nucleotide variantNM_005264.8(GFRA1):c.1170T>A (p.His390Gln)not specified [RCV004387833]uncertain significance10116089768116089768Humanname
597628381CV3552487single nucleotide variantNM_005264.8(GFRA1):c.1024A>G (p.Ile342Val)Renal hypodysplasia/aplasia 4 [RCV004821433]uncertain significance10116089914116089914Human1name
597758886CV3684194single nucleotide variantNM_005264.8(GFRA1):c.1078G>A (p.Val360Ile)not specified [RCV004925385]uncertain significance10116089860116089860Humanname
598220174CV3967081single nucleotide variantNM_005264.8(GFRA1):c.1057G>A (p.Val353Met)not specified [RCV005340409]uncertain significance10116089881116089881Humanname