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)


104 records found for search term Fezf1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150499093CV1282495single nucleotide variantNM_001024613.4(FEZF1):c.-36A>Gnot provided [RCV001718131]benign7122304473122304473Humanname
150416679CV1180272duplicationNM_001024613.4(FEZF1):c.*269dupnot provided [RCV001549774]likely benign7122301727122301728Humanname
150422951CV1180273single nucleotide variantNM_001024613.4(FEZF1):c.801+10A>THypogonadotropic hypogonadism 7 with or without anosmia [RCV002506659]|not provided [RCV001553347]benign|likely benign7122303627122303627Human1name
150420958CV1197627single nucleotide variantNM_001024613.4(FEZF1):c.801+59C>Tnot provided [RCV001577837]likely benign7122303578122303578Humanname
150490266CV1208584single nucleotide variantNM_001024613.4(FEZF1):c.802-68C>Gnot provided [RCV001592445]likely benign7122303379122303379Humanname
150456190CV1219318single nucleotide variantNM_001024613.4(FEZF1):c.1069+6C>Gnot provided [RCV001612665]benign7122302793122302793Humanname
150456510CV1235217single nucleotide variantNM_001024613.4(FEZF1):c.801+49T>Cnot provided [RCV001648633]benign7122303588122303588Humanname
150503257CV1257753single nucleotide variantNM_001024613.4(FEZF1):c.1069+4T>Cnot provided [RCV001677441]benign7122302795122302795Humanname
156211932CV2036959single nucleotide variantNM_001024613.4(FEZF1):c.802-17G>Anot provided [RCV002790277]benign7122303328122303328Humanname
405221489CV3038570single nucleotide variantNM_001024613.4(FEZF1):c.936+17C>Tnot provided [RCV003710038]likely benign7122303160122303160Humanname
15190771CV744326single nucleotide variantNM_001024613.4(FEZF1):c.937-10T>Gnot provided [RCV000910049]|not specified [RCV003489964]benign|likely benign7122302941122302941Humanname
150334354CV1171658single nucleotide variantNM_001024613.4(FEZF1):c.801+121T>Cnot provided [RCV001540000]benign7122303516122303516Humanname
150425765CV1183922single nucleotide variantNM_001024613.4(FEZF1):c.801+125T>Cnot provided [RCV001558445]likely benign7122303512122303512Humanname
150445641CV1233213deletionNM_001024613.4(FEZF1):c.1070-34delnot provided [RCV001645886]benign7122302389122302389Humanname
150499087CV1282494single nucleotide variantNM_001024613.4(FEZF1):c.801+101T>Cnot provided [RCV001718130]benign7122303536122303536Humanname
156218350CV2047752single nucleotide variantNM_001024613.4(FEZF1):c.1069+15A>Gnot provided [RCV002790534]benign7122302784122302784Humanname
150447773CV1216164single nucleotide variantNM_001024613.4(FEZF1):c.1070-117T>Cnot provided [RCV001611462]benign7122302472122302472Humanname
150477814CV1252072single nucleotide variantNM_001024613.4(FEZF1):c.1069+179G>Tnot provided [RCV001672272]benign7122302620122302620Human2name
150469937CV1259742single nucleotide variantNM_001024613.4(FEZF1):c.1070-212T>Cnot provided [RCV001684043]benign7122302567122302567Humanname
150502522CV1212254microsatelliteNM_001024613.4(FEZF1):c.801+93CTCC[4]not provided [RCV001595127]benign7122303536122303537Humanname
150413366CV1190604microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[9]not provided [RCV001567171]likely benign7122303473122303500Humanname
150414533CV1176865microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[17]not provided [RCV001548173]likely benign7122303472122303473Humanname
150495256CV1225038microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[14]not provided [RCV001619516]benign7122303473122303480Humanname
150430937CV1243529microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[15]not provided [RCV001663148]benign7122303473122303476Humanname
150463210CV1276192microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[13]not provided [RCV001710137]benign7122303473122303484Humanname
150499250CV1282612microsatelliteNM_001024613.4(FEZF1):c.801+101TTCC[12]not provided [RCV001718159]benign7122303473122303488Humanname
150431236CV1206281deletionNM_001024613.4(FEZF1):c.801+77_801+96delnot provided [RCV001580930]likely benign7122303541122303560Humanname
15191138CV699789single nucleotide variantNM_001024613.4(FEZF1):c.285G>C (p.Pro95=)FEZF1-related disorder [RCV003935837]|not provided [RCV000954687]|not specified [RCV004782612]benign|likely benign7122304153122304153Human1name , trait , alternate_id
15164707CV710736single nucleotide variantNM_001024613.4(FEZF1):c.213C>T (p.Ile71=)FEZF1-related disorder [RCV004758119]|not provided [RCV000970786]likely benign7122304225122304225Human1name , trait , alternate_id
15118639CV735917single nucleotide variantNM_001024613.4(FEZF1):c.252G>A (p.Thr84=)not provided [RCV000895579]likely benign7122304186122304186Humanname
15199810CV766037single nucleotide variantNM_001024613.4(FEZF1):c.180A>G (p.Glu60=)not provided [RCV000935208]likely benign7122304258122304258Humanname
15184752CV766038single nucleotide variantNM_001024613.4(FEZF1):c.123A>T (p.Pro41=)not provided [RCV000930881]|not specified [RCV005236450]likely benign7122304315122304315Humanname
150487557CV1237353duplicationNM_001024613.4(FEZF1):c.1069+18_1069+20dupnot provided [RCV001654202]benign7122302778122302779Humanname
151841054CV1464234single nucleotide variantNM_001024613.4(FEZF1):c.74C>A (p.Thr25Lys)not provided [RCV001936120]uncertain significance7122304364122304364Humanname
156186047CV1964666single nucleotide variantNM_001024613.4(FEZF1):c.711G>T (p.Leu237=)not provided [RCV002574262]likely benign7122303727122303727Humanname
155919013CV2254781single nucleotide variantNM_001024613.4(FEZF1):c.55C>T (p.Arg19Trp)Inborn genetic diseases [RCV002772723]uncertain significance7122304383122304383Human1name
329353216CV2477032single nucleotide variantNM_001024613.4(FEZF1):c.504C>T (p.Gly168=)not provided [RCV003223264]likely benign7122303934122303934Humanname
405283777CV3200345single nucleotide variantNM_001024613.4(FEZF1):c.735C>G (p.Thr245=)FEZF1-related disorder [RCV003979394]likely benign7122303703122303703Humanname , trait , alternate_id
405744902CV3253442single nucleotide variantNM_001024613.4(FEZF1):c.65T>A (p.Met22Lys)Inborn genetic diseases [RCV004391893]uncertain significance7122304373122304373Human1name
597951914CV3847500single nucleotide variantNM_001024613.4(FEZF1):c.748C>A (p.Arg250=)not provided [RCV005190482]likely benign7122303690122303690Humanname
15189626CV735913single nucleotide variantNM_001024613.4(FEZF1):c.780C>T (p.Phe260=)FEZF1-related disorder [RCV003902866]|not provided [RCV000909707]likely benign7122303658122303658Human1name , trait , alternate_id
15140226CV735914single nucleotide variantNM_001024613.4(FEZF1):c.615G>A (p.Val205=)not provided [RCV000899282]likely benign7122303823122303823Humanname
15176649CV735916single nucleotide variantNM_001024613.4(FEZF1):c.405G>A (p.Ala135=)not provided [RCV000906476]likely benign7122304033122304033Humanname
15186510CV766036single nucleotide variantNM_001024613.4(FEZF1):c.438G>A (p.Pro146=)not provided [RCV000931375]likely benign7122304000122304000Humanname
151355661CV1328728single nucleotide variantNM_001024613.4(FEZF1):c.1020C>G (p.Gly340=)not specified [RCV001820733]likely benign7122302848122302848Humanname
151661935CV1330131single nucleotide variantNM_001024613.4(FEZF1):c.263C>T (p.Ala88Val)Hypogonadotropic hypogonadism 22 with or without anosmia [RCV001823542]|Inborn genetic diseases [RCV004041002]uncertain significance7122304175122304175Human2name
9589542CV166017deletionNM_001024613.4(FEZF1):c.653del (p.Phe218fs)Hypogonadotropic hypogonadism 22 with anosmia [RCV000144241]pathogenic7122303785122303785Human1name
156435750CV1937119single nucleotide variantNM_001024613.4(FEZF1):c.1323G>A (p.Pro441=)FEZF1-related disorder [RCV003936697]|not provided [RCV003104987]likely benign7122302102122302102Human1name , trait , alternate_id
156299652CV1955497single nucleotide variantNM_001024613.4(FEZF1):c.1164C>G (p.Thr388=)not provided [RCV002578170]likely benign7122302261122302261Humanname
156116232CV1993940single nucleotide variantNM_001024613.4(FEZF1):c.266G>A (p.Gly89Glu)not provided [RCV002662676]uncertain significance7122304172122304172Humanname
156318236CV2169498single nucleotide variantNM_001024613.4(FEZF1):c.188A>G (p.His63Arg)not provided [RCV003028992]uncertain significance7122304250122304250Humanname
156068469CV2176243single nucleotide variantNM_001024613.4(FEZF1):c.197A>C (p.His66Pro)not provided [RCV003053643]uncertain significance7122304241122304241Humanname
156198395CV2237430single nucleotide variantNM_001024613.4(FEZF1):c.115C>T (p.Arg39Cys)Inborn genetic diseases [RCV002743279]uncertain significance7122304323122304323Human1name
156330385CV2339466single nucleotide variantNM_001024613.4(FEZF1):c.184A>G (p.Lys62Glu)Inborn genetic diseases [RCV002964099]uncertain significance7122304254122304254Human1name
329351864CV2455408single nucleotide variantNM_001024613.4(FEZF1):c.250A>T (p.Thr84Ser)Inborn genetic diseases [RCV003200099]uncertain significance7122304188122304188Human1name
404990452CV3131999single nucleotide variantNM_001024613.4(FEZF1):c.1422C>T (p.His474=)not provided [RCV003827128]likely benign7122302003122302003Humanname
405744872CV3253438single nucleotide variantNM_001024613.4(FEZF1):c.166T>G (p.Leu56Val)Inborn genetic diseases [RCV004391889]likely benign7122304272122304272Human1name
405744880CV3253439single nucleotide variantNM_001024613.4(FEZF1):c.254G>A (p.Ser85Asn)Inborn genetic diseases [RCV004391890]uncertain significance7122304184122304184Human1name
407484180CV3439048single nucleotide variantNM_001024613.4(FEZF1):c.109A>G (p.Met37Val)Inborn genetic diseases [RCV004618689]uncertain significance7122304329122304329Human1name
15129664CV710734single nucleotide variantNM_001024613.4(FEZF1):c.1002T>C (p.His334=)FEZF1-related disorder [RCV004758112]|not provided [RCV000964296]benign|likely benign7122302866122302866Human1name , trait , alternate_id
15160187CV710735single nucleotide variantNM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly)not provided [RCV000969850]|not specified [RCV001819097]benign|likely benign7122304185122304185Humanname
15183337CV722275single nucleotide variantNM_001024613.4(FEZF1):c.1350G>A (p.Pro450=)FEZF1-related disorder [RCV003948371]|not provided [RCV000886204]|not specified [RCV001818634]benign7122302075122302075Human1name , trait , alternate_id
15117769CV750377single nucleotide variantNM_001024613.4(FEZF1):c.1164C>T (p.Thr388=)FEZF1-related disorder [RCV003902975]|not provided [RCV000917855]|not specified [RCV001818864]benign|likely benign7122302261122302261Human1name , trait , alternate_id
9589541CV166016single nucleotide variantNM_001024613.4(FEZF1):c.832C>T (p.His278Tyr)Hypogonadotropic hypogonadism 22 with anosmia [RCV000144240]pathogenic7122303281122303281Human1name
156096546CV2004643single nucleotide variantNM_001024613.4(FEZF1):c.590A>G (p.Tyr197Cys)not provided [RCV002639420]uncertain significance7122303848122303848Humanname
156138033CV2106010single nucleotide variantNM_001024613.4(FEZF1):c.787G>A (p.Glu263Lys)not provided [RCV002914799]uncertain significance7122303651122303651Humanname
156109085CV2211126single nucleotide variantNM_001024613.4(FEZF1):c.463C>T (p.His155Tyr)Inborn genetic diseases [RCV002707078]uncertain significance7122303975122303975Human1name
156140198CV2260234single nucleotide variantNM_001024613.4(FEZF1):c.305C>T (p.Ala102Val)Inborn genetic diseases [RCV002826142]uncertain significance7122304133122304133Human1name
156072945CV2299126single nucleotide variantNM_001024613.4(FEZF1):c.779T>C (p.Phe260Ser)Inborn genetic diseases [RCV002886985]uncertain significance7122303659122303659Human1name
156005784CV2357700single nucleotide variantNM_001024613.4(FEZF1):c.494G>C (p.Arg165Pro)Inborn genetic diseases [RCV002997366]uncertain significance7122303944122303944Human1name
156269331CV2379251single nucleotide variantNM_001024613.4(FEZF1):c.370G>T (p.Ala124Ser)Inborn genetic diseases [RCV002703515]uncertain significance7122304068122304068Human1name
329392128CV2445348single nucleotide variantNM_001024613.4(FEZF1):c.677T>G (p.Leu226Arg)Inborn genetic diseases [RCV003192507]uncertain significance7122303761122303761Human1name
401891011CV2768906single nucleotide variantNM_001024613.4(FEZF1):c.394G>A (p.Ala132Thr)Inborn genetic diseases [RCV003369228]uncertain significance7122304044122304044Human1name
401866011CV2786229single nucleotide variantNM_001024613.4(FEZF1):c.449A>G (p.Asn150Ser)Inborn genetic diseases [RCV003379538]uncertain significance7122303989122303989Human1name
401897425CV2787005single nucleotide variantNM_001024613.4(FEZF1):c.752G>C (p.Gly251Ala)Inborn genetic diseases [RCV003375046]uncertain significance7122303686122303686Human1name
405744888CV3253440single nucleotide variantNM_001024613.4(FEZF1):c.440G>A (p.Arg147His)Inborn genetic diseases [RCV004391891]uncertain significance7122303998122303998Human1name
407484177CV3439047single nucleotide variantNM_001024613.4(FEZF1):c.671C>T (p.Ala224Val)Inborn genetic diseases [RCV004618688]uncertain significance7122303767122303767Human1name
597653259CV3672503single nucleotide variantNM_001024613.4(FEZF1):c.503G>T (p.Gly168Val)Inborn genetic diseases [RCV004975028]uncertain significance7122303935122303935Human1name
597653265CV3672504single nucleotide variantNM_001024613.4(FEZF1):c.541G>A (p.Val181Met)Inborn genetic diseases [RCV004975029]uncertain significance7122303897122303897Human1name
597653272CV3672505single nucleotide variantNM_001024613.4(FEZF1):c.453C>G (p.His151Gln)Inborn genetic diseases [RCV004975030]uncertain significance7122303985122303985Human1name
597653277CV3672506single nucleotide variantNM_001024613.4(FEZF1):c.314C>A (p.Ala105Glu)Inborn genetic diseases [RCV004975031]uncertain significance7122304124122304124Human1name
598240896CV3959330single nucleotide variantNM_001024613.4(FEZF1):c.770C>T (p.Pro257Leu)Inborn genetic diseases [RCV005344253]uncertain significance7122303668122303668Human1name
598240905CV3959332single nucleotide variantNM_001024613.4(FEZF1):c.430G>A (p.Val144Ile)Inborn genetic diseases [RCV005344255]uncertain significance7122304008122304008Human1name
598240910CV3959333single nucleotide variantNM_001024613.4(FEZF1):c.475G>C (p.Ala159Pro)Inborn genetic diseases [RCV005344256]uncertain significance7122303963122303963Human1name
598240915CV3959334single nucleotide variantNM_001024613.4(FEZF1):c.652T>G (p.Phe218Val)Inborn genetic diseases [RCV005344257]uncertain significance7122303786122303786Human1name
15099155CV722276single nucleotide variantNM_001024613.4(FEZF1):c.523G>C (p.Gly175Arg)FEZF1-related disorder [RCV003940697]|not provided [RCV000891893]likely benign7122303915122303915Human1name , trait , alternate_id
15127112CV735915single nucleotide variantNM_001024613.4(FEZF1):c.553T>C (p.Phe185Leu)FEZF1-related disorder [RCV003958072]|not provided [RCV000897050]likely benign7122303885122303885Human1name , trait , alternate_id
150466028CV1201176insertionNM_001024613.4(FEZF1):c.801+101_801+102insCCCnot provided [RCV001587656]likely benign7122303535122303536Humanname
151733246CV1336520single nucleotide variantNM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro)Amenorrhea [RCV001849749]|not provided [RCV002225941]likely benign|uncertain significance7122302082122302082Human2name
156361001CV1908628single nucleotide variantNM_001024613.4(FEZF1):c.1397T>G (p.Leu466Arg)Inborn genetic diseases [RCV004621712]|not provided [RCV002602494]uncertain significance7122302028122302028Human1name
156305541CV2079765single nucleotide variantNM_001024613.4(FEZF1):c.1318G>C (p.Glu440Gln)not provided [RCV002857388]uncertain significance7122302107122302107Humanname
156339319CV2225075single nucleotide variantNM_001024613.4(FEZF1):c.1373C>A (p.Pro458Gln)Inborn genetic diseases [RCV002718929]uncertain significance7122302052122302052Human1name
156095030CV2252998single nucleotide variantNM_001024613.4(FEZF1):c.1393C>A (p.Pro465Thr)Inborn genetic diseases [RCV002798754]uncertain significance7122302032122302032Human1name
156055506CV2308791single nucleotide variantNM_001024613.4(FEZF1):c.1415A>G (p.Gln472Arg)Inborn genetic diseases [RCV002911459]uncertain significance7122302010122302010Human1name
156178504CV2327446single nucleotide variantNM_001024613.4(FEZF1):c.1186G>A (p.Asp396Asn)Inborn genetic diseases [RCV002916979]uncertain significance7122302239122302239Human1name
156364624CV2339028single nucleotide variantNM_001024613.4(FEZF1):c.1349C>T (p.Pro450Leu)Inborn genetic diseases [RCV002941859]uncertain significance7122302076122302076Human1name
401886105CV2771078single nucleotide variantNM_001024613.4(FEZF1):c.1417G>A (p.Gly473Ser)Inborn genetic diseases [RCV003351893]uncertain significance7122302008122302008Human1name
405744866CV3253437single nucleotide variantNM_001024613.4(FEZF1):c.1015G>A (p.Ala339Thr)Inborn genetic diseases [RCV004391888]uncertain significance7122302853122302853Human1name
407484167CV3439045single nucleotide variantNM_001024613.4(FEZF1):c.1393C>T (p.Pro465Ser)Inborn genetic diseases [RCV004618686]uncertain significance7122302032122302032Human1name
407484172CV3439046single nucleotide variantNM_001024613.4(FEZF1):c.1124A>C (p.Asn375Thr)Inborn genetic diseases [RCV004618687]uncertain significance7122302301122302301Human1name
407501129CV3439049single nucleotide variantNM_001024613.4(FEZF1):c.1220A>G (p.Lys407Arg)Inborn genetic diseases [RCV004623191]uncertain significance7122302205122302205Human1name
598240899CV3959331single nucleotide variantNM_001024613.4(FEZF1):c.1171A>T (p.Met391Leu)Inborn genetic diseases [RCV005344254]uncertain significance7122302254122302254Human1name
150508581CV1214081insertionNM_001024613.4(FEZF1):c.801+120_801+121insTCCCnot provided [RCV001596602]likely benign7122303516122303517Humanname
150427788CV1187184insertionNM_001024613.4(FEZF1):c.801+100_801+101insTCCCTCCCTCCTnot provided [RCV001561393]likely benign7122303536122303537Humanname