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305 records found for search term Fbrs
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401934417CV2807800single nucleotide variantNM_001105079.3(FBRS):c.426C>T (p.Ala142=)not provided [RCV003411308]likely benign163065994430659944Humanname
15191354CV703635single nucleotide variantNM_001105079.3(FBRS):c.2496C>A (p.Ala832=)not provided [RCV000954751]likely benign163066919830669198Humanname
156062209CV2203486single nucleotide variantNM_001105079.3(FBRS):c.1661C>T (p.Pro554Leu)not specified [RCV004072696]uncertain significance163066535830665358Humanname
156176030CV2205295single nucleotide variantNM_001105079.3(FBRS):c.1730G>A (p.Arg577Gln)not specified [RCV004079914]uncertain significance163066566330665663Humanname
155981564CV2208429single nucleotide variantNM_001105079.3(FBRS):c.2423G>A (p.Arg808Gln)not specified [RCV004090972]uncertain significance163066912530669125Humanname
156331098CV2210774single nucleotide variantNM_001105079.3(FBRS):c.1715C>A (p.Pro572His)not specified [RCV004085869]uncertain significance163066564830665648Humanname
156094070CV2213283single nucleotide variantNM_001105079.3(FBRS):c.2728G>A (p.Val910Met)not specified [RCV004085500]uncertain significance163066943030669430Humanname
156382216CV2227246single nucleotide variantNM_001105079.3(FBRS):c.2023A>G (p.Thr675Ala)not specified [RCV004091828]uncertain significance163066757130667571Humanname
155933177CV2228841single nucleotide variantNM_001105079.3(FBRS):c.2461G>A (p.Val821Met)not specified [RCV004095078]uncertain significance163066916330669163Humanname
156252502CV2232410single nucleotide variantNM_001105079.3(FBRS):c.2881G>C (p.Val961Leu)not specified [RCV004099036]uncertain significance163066958330669583Humanname
155900946CV2241876single nucleotide variantNM_001105079.3(FBRS):c.2290G>T (p.Ala764Ser)not specified [RCV004106795]uncertain significance163066890330668903Humanname
156232374CV2245155single nucleotide variantNM_001105079.3(FBRS):c.1630G>A (p.Ala544Thr)not specified [RCV004106939]uncertain significance163066532730665327Humanname
156362568CV2265560single nucleotide variantNM_001105079.3(FBRS):c.2609C>G (p.Pro870Arg)not specified [RCV004124302]uncertain significance163066931130669311Humanname
156166351CV2270411single nucleotide variantNM_001105079.3(FBRS):c.2329C>T (p.Arg777Trp)not specified [RCV004137389]uncertain significance163066894230668942Humanname
156029528CV2278632single nucleotide variantNM_001105079.3(FBRS):c.2044G>A (p.Gly682Arg)not specified [RCV004134841]uncertain significance163066759230667592Humanname
156074255CV2281428single nucleotide variantNM_001105079.3(FBRS):c.1988C>G (p.Ala663Gly)not specified [RCV004153759]uncertain significance163066743230667432Humanname
155930153CV2299761single nucleotide variantNM_001105079.3(FBRS):c.2591C>T (p.Pro864Leu)not specified [RCV004148920]uncertain significance163066929330669293Humanname
156106874CV2303831single nucleotide variantNM_001105079.3(FBRS):c.2005G>A (p.Ala669Thr)not specified [RCV004168128]uncertain significance163066755330667553Humanname
156273333CV2334007single nucleotide variantNM_001105079.3(FBRS):c.2524G>A (p.Ala842Thr)not specified [RCV004183533]uncertain significance163066922630669226Humanname
155901068CV2345726single nucleotide variantNM_001105079.3(FBRS):c.2699C>T (p.Ala900Val)not specified [RCV004205664]uncertain significance163066940130669401Humanname
156276821CV2351966single nucleotide variantNM_001105079.3(FBRS):c.2734G>A (p.Ala912Thr)not specified [RCV004191070]uncertain significance163066943630669436Humanname
156180013CV2356058single nucleotide variantNM_001105079.3(FBRS):c.2837G>A (p.Ser946Asn)not specified [RCV004203475]uncertain significance163066953930669539Humanname
156390213CV2373170single nucleotide variantNM_001105079.3(FBRS):c.1750G>A (p.Gly584Arg)not specified [RCV004217851]uncertain significance163066568330665683Humanname
156185604CV2377859single nucleotide variantNM_001105079.3(FBRS):c.2644C>T (p.Pro882Ser)not specified [RCV004230433]uncertain significance163066934630669346Humanname
329376519CV2438263single nucleotide variantNM_001105079.3(FBRS):c.2527G>A (p.Ala843Thr)not specified [RCV004257023]uncertain significance163066922930669229Humanname
329376712CV2438337single nucleotide variantNM_001105079.3(FBRS):c.2317C>T (p.Arg773Trp)not specified [RCV004257087]uncertain significance163066893030668930Humanname
329374176CV2443756single nucleotide variantNM_001105079.3(FBRS):c.2930G>A (p.Arg977Gln)not specified [RCV004256055]uncertain significance163066963230669632Humanname
329362341CV2444619single nucleotide variantNM_001105079.3(FBRS):c.2479C>T (p.Arg827Trp)not specified [RCV004256840]uncertain significance163066918130669181Humanname
401757341CV2675239single nucleotide variantNM_001105079.3(FBRS):c.2422C>T (p.Arg808Trp)not specified [RCV004290007]uncertain significance163066912430669124Humanname
401760346CV2718808single nucleotide variantNM_001105079.3(FBRS):c.2624G>A (p.Arg875His)not specified [RCV004328554]uncertain significance163066932630669326Humanname
401723394CV2724880single nucleotide variantNM_001105079.3(FBRS):c.2810C>T (p.Ala937Val)not specified [RCV004319659]uncertain significance163066951230669512Humanname
401774030CV2727709single nucleotide variantNM_001105079.3(FBRS):c.2017C>A (p.Pro673Thr)not specified [RCV004323747]uncertain significance163066756530667565Humanname
401860977CV2758696single nucleotide variantNM_001105079.3(FBRS):c.1718A>G (p.Glu573Gly)not specified [RCV004337761]uncertain significance163066565130665651Humanname
401895633CV2771235single nucleotide variantNM_001105079.3(FBRS):c.2355G>T (p.Glu785Asp)not specified [RCV004346216]uncertain significance163066896830668968Humanname
401897059CV2782505single nucleotide variantNM_001105079.3(FBRS):c.2465G>C (p.Arg822Pro)not specified [RCV004359550]uncertain significance163066916730669167Humanname
405778496CV3250166single nucleotide variantNM_001105079.3(FBRS):c.1889A>G (p.Lys630Arg)not specified [RCV004386322]uncertain significance163066733330667333Humanname
405778162CV3250167single nucleotide variantNM_001105079.3(FBRS):c.1999G>A (p.Val667Ile)not specified [RCV004386323]uncertain significance163066754730667547Humanname
405778174CV3250169single nucleotide variantNM_001105079.3(FBRS):c.2033C>T (p.Pro678Leu)not specified [RCV004386325]uncertain significance163066758130667581Humanname
405778179CV3250170single nucleotide variantNM_001105079.3(FBRS):c.2057G>C (p.Ser686Thr)not specified [RCV004386326]uncertain significance163066760530667605Humanname
405778185CV3250171single nucleotide variantNM_001105079.3(FBRS):c.2123A>G (p.Asn708Ser)not specified [RCV004386327]uncertain significance163066860830668608Humanname
405778191CV3250172single nucleotide variantNM_001105079.3(FBRS):c.2212G>A (p.Ala738Thr)not specified [RCV004386328]uncertain significance163066882530668825Humanname
405778197CV3250173single nucleotide variantNM_001105079.3(FBRS):c.2294G>A (p.Arg765Gln)not specified [RCV004386329]uncertain significance163066890730668907Humanname
407493709CV3442450single nucleotide variantNM_001105079.3(FBRS):c.2816C>T (p.Pro939Leu)not specified [RCV004621121]uncertain significance163066951830669518Humanname
407493713CV3442451single nucleotide variantNM_001105079.3(FBRS):c.2320C>G (p.Pro774Ala)not specified [RCV004621122]uncertain significance163066893330668933Humanname
407493718CV3442452single nucleotide variantNM_001105079.3(FBRS):c.2896C>T (p.Pro966Ser)not specified [RCV004621123]uncertain significance163066959830669598Humanname
407493723CV3442453single nucleotide variantNM_001105079.3(FBRS):c.1790G>A (p.Arg597Gln)not specified [RCV004621124]uncertain significance163066652830666528Humanname
597698473CV3669256single nucleotide variantNM_001105079.3(FBRS):c.1748G>A (p.Ser583Asn)not specified [RCV004916128]uncertain significance163066568130665681Humanname
597698479CV3669257single nucleotide variantNM_001105079.3(FBRS):c.2222C>T (p.Pro741Leu)not specified [RCV004916129]uncertain significance163066883530668835Humanname
597698486CV3669258single nucleotide variantNM_001105079.3(FBRS):c.1925C>T (p.Pro642Leu)not specified [RCV004916130]uncertain significance163066736930667369Humanname
597698494CV3669259single nucleotide variantNM_001105079.3(FBRS):c.1616C>T (p.Thr539Met)not specified [RCV004916131]uncertain significance163066531330665313Humanname
597698502CV3669260single nucleotide variantNM_001105079.3(FBRS):c.2281C>A (p.Pro761Thr)not specified [RCV004916132]uncertain significance163066889430668894Humanname
597698520CV3669263single nucleotide variantNM_001105079.3(FBRS):c.2072T>C (p.Ile691Thr)not specified [RCV004916134]uncertain significance163066762030667620Humanname
597698527CV3669264single nucleotide variantNM_001105079.3(FBRS):c.2275C>T (p.Arg759Trp)not specified [RCV004916135]uncertain significance163066888830668888Humanname
598214557CV3962555single nucleotide variantNM_001105079.3(FBRS):c.2539G>A (p.Ala847Thr)not specified [RCV005339545]uncertain significance163066924130669241Humanname
598214563CV3962556single nucleotide variantNM_001105079.3(FBRS):c.2521G>A (p.Ala841Thr)not specified [RCV005339546]uncertain significance163066922330669223Humanname
598214574CV3962558single nucleotide variantNM_001105079.3(FBRS):c.1864G>A (p.Glu622Lys)not specified [RCV005339548]uncertain significance163066697930666979Humanname
598214582CV3962559single nucleotide variantNM_001105079.3(FBRS):c.2237G>A (p.Arg746His)not specified [RCV005339549]uncertain significance163066885030668850Humanname
598214591CV3962560single nucleotide variantNM_001105079.3(FBRS):c.1606A>G (p.Asn536Asp)not specified [RCV005339550]uncertain significance163066507730665077Humanname
598214597CV3962561single nucleotide variantNM_001105079.3(FBRS):c.2884C>T (p.Pro962Ser)not specified [RCV005339551]uncertain significance163066958630669586Humanname
598214605CV3962562single nucleotide variantNM_001105079.3(FBRS):c.2789C>T (p.Ala930Val)not specified [RCV005339552]uncertain significance163066949130669491Humanname
598226546CV3962563single nucleotide variantNM_001105079.3(FBRS):c.2230T>C (p.Trp744Arg)not specified [RCV005341621]uncertain significance163066884330668843Humanname
598226553CV3962564single nucleotide variantNM_001105079.3(FBRS):c.2639T>C (p.Leu880Pro)not specified [RCV005341622]uncertain significance163066934130669341Humanname
14349976CV590884single nucleotide variantNM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)Short stature [RCV000736120]likely pathogenic163066862230668622Human2name
14349982CV590885single nucleotide variantNM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu)Short stature [RCV000736122]uncertain significance163066929630669296Human2name
14349978CV590886single nucleotide variantNM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)Short stature [RCV000736121]likely pathogenic163066959830669598Human2name
598129730CV3887150single nucleotide variantNM_001367871.1(FBRSL1):c.692-3C>Tnot provided [RCV005245210]benign12132569923132569923Humanname
243049713CV2417071single nucleotide variantNM_001367871.1(FBRSL1):c.1912+3G>TSee cases [RCV003151941]likely benign12132581519132581519Humanname
401919092CV2800922single nucleotide variantNM_001367871.1(FBRSL1):c.1912+1G>AFBRSL1-related disorder [RCV003402122]uncertain significance12132581517132581517Humanname , trait , alternate_id
155904093CV2353756single nucleotide variantNM_001367871.1(FBRSL1):c.1630-18G>Anot specified [RCV004201765]uncertain significance12132574475132574475Humanname
156018387CV2370270single nucleotide variantNM_001367871.1(FBRSL1):c.1629+50C>Tnot specified [RCV004213187]uncertain significance12132574398132574398Humanname
156060701CV2380159single nucleotide variantNM_001367871.1(FBRSL1):c.1629+71G>Anot specified [RCV004224530]uncertain significance12132574419132574419Humanname
401863180CV2765572single nucleotide variantNM_001367871.1(FBRSL1):c.1629+23C>Tnot specified [RCV004335589]likely benign12132574371132574371Humanname
401886250CV2771701single nucleotide variantNM_001367871.1(FBRSL1):c.1377+81G>Anot specified [RCV004350491]uncertain significance12132571312132571312Humanname
597719352CV3669280single nucleotide variantNM_001367871.1(FBRSL1):c.1377+91G>Cnot specified [RCV004918631]uncertain significance12132571322132571322Humanname
598227151CV3894468single nucleotide variantNM_001367871.1(FBRSL1):c.1629+59C>Tnot provided [RCV005257711]likely benign12132574407132574407Humanname
598226673CV3962581single nucleotide variantNM_001367871.1(FBRSL1):c.1630-30G>Cnot specified [RCV005341638]uncertain significance12132574463132574463Humanname
617153359CV4021221single nucleotide variantNM_001367871.1(FBRSL1):c.1629+54G>Anot provided [RCV005428974]likely benign12132574402132574402Humanname
8653736CV130311single nucleotide variantNM_001142641.1(FBRSL1):c.490-1367G>ALung cancer [RCV000110798]uncertain significance12132524367132524367Humanname
156172586CV2293370single nucleotide variantNM_001367871.1(FBRSL1):c.1377+108C>Tnot specified [RCV004150845]uncertain significance12132571339132571339Humanname
155965682CV2395987single nucleotide variantNM_001367871.1(FBRSL1):c.1377+154C>Tnot specified [RCV004237535]uncertain significance12132571385132571385Humanname
329398487CV2471564single nucleotide variantNM_001367871.1(FBRSL1):c.1377+172C>Anot specified [RCV004286866]uncertain significance12132571403132571403Humanname
401747573CV2696735single nucleotide variantNM_001367871.1(FBRSL1):c.1377+289C>Tnot specified [RCV004290709]uncertain significance12132571520132571520Humanname
401757720CV2731409single nucleotide variantNM_001367871.1(FBRSL1):c.1377+292C>Tnot specified [RCV004330772]uncertain significance12132571523132571523Humanname
401862837CV2755461single nucleotide variantNM_001367871.1(FBRSL1):c.1377+268C>Tnot specified [RCV004340050]uncertain significance12132571499132571499Humanname
401910028CV2813729single nucleotide variantNM_001367871.1(FBRSL1):c.489+1139C>Tnot provided [RCV003398306]likely benign12132509489132509489Humanname
401910030CV2813730single nucleotide variantNM_001367871.1(FBRSL1):c.489+1799G>Anot provided [RCV003398307]likely benign12132510149132510149Humanname
401934225CV2813731single nucleotide variantNM_001367871.1(FBRSL1):c.489+2042A>Gnot provided [RCV003410978]likely benign12132510392132510392Humanname
597719522CV3665798single nucleotide variantNM_001367871.1(FBRSL1):c.1377+145C>Tnot specified [RCV004918651]uncertain significance12132571376132571376Humanname
597719344CV3669279single nucleotide variantNM_001367871.1(FBRSL1):c.1377+279G>Anot specified [RCV004918630]uncertain significance12132571510132571510Humanname
597719384CV3669284single nucleotide variantNM_001367871.1(FBRSL1):c.1377+256C>Tnot specified [RCV004918635]uncertain significance12132571487132571487Humanname
598128921CV3886722single nucleotide variantNM_001367871.1(FBRSL1):c.489+1901G>Anot provided [RCV005244382]benign12132510251132510251Humanname
598128333CV3887537single nucleotide variantNM_001367871.1(FBRSL1):c.489+1991G>Anot provided [RCV005243710]likely benign12132510341132510341Humanname
598128351CV3887555single nucleotide variantNM_001367871.1(FBRSL1):c.489+1632C>Anot provided [RCV005243728]likely benign12132509982132509982Humanname
598127675CV3888280single nucleotide variantNM_001367871.1(FBRSL1):c.489+1426C>Tnot provided [RCV005242966]uncertain significance12132509776132509776Humanname
598221717CV3893770single nucleotide variantNM_001367871.1(FBRSL1):c.489+1236C>Tnot provided [RCV005257013]likely benign12132509586132509586Humanname
598224670CV3894153single nucleotide variantNM_001367871.1(FBRSL1):c.489+1970G>Anot provided [RCV005257396]likely benign12132510320132510320Humanname
598225254CV3894224single nucleotide variantNM_001367871.1(FBRSL1):c.489+1979G>Tnot provided [RCV005257467]uncertain significance12132510329132510329Humanname
598226584CV3962570single nucleotide variantNM_001367871.1(FBRSL1):c.1377+169G>Anot specified [RCV005341627]uncertain significance12132571400132571400Humanname
598226599CV3962572single nucleotide variantNM_001367871.1(FBRSL1):c.1377+220C>Anot specified [RCV005341629]uncertain significance12132571451132571451Humanname
598226626CV3962575single nucleotide variantNM_001367871.1(FBRSL1):c.1377+234C>Tnot specified [RCV005341632]uncertain significance12132571465132571465Humanname
401936526CV2798657single nucleotide variantNM_001367871.1(FBRSL1):c.1886G>C (p.Ser629Thr)FBRSL1-related disorder [RCV003414540]uncertain significance12132581490132581490Humanname , trait , alternate_id
401909342CV2803993single nucleotide variantNM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter)FBRSL1-related disorder [RCV003397851]uncertain significance12132508291132508291Humanname , trait , alternate_id
405277924CV3199386deletionNM_001367871.1(FBRSL1):c.2524_2538del (p.Arg842_Gly846del)FBRSL1-related disorder [RCV003904782]|Syndromic disease [RCV003994606]benign|likely benign12132583285132583299Humanname , trait , alternate_id
405260320CV3209142single nucleotide variantNM_001367871.1(FBRSL1):c.845G>A (p.Arg282His)FBRSL1-related disorder [RCV003943847]likely benign12132570079132570079Humanname , trait , alternate_id
401772951CV2698041single nucleotide variantNM_001367871.1(FBRSL1):c.94C>T (p.Pro32Ser)not specified [RCV004302842]uncertain significance12132490664132490664Humanname
401934224CV2813732single nucleotide variantNM_001367871.1(FBRSL1):c.876C>T (p.Pro292=)not provided [RCV003410979]likely benign12132570110132570110Humanname
401910194CV2813733single nucleotide variantNM_001367871.1(FBRSL1):c.966G>A (p.Ala322=)not provided [RCV003398308]likely benign12132570200132570200Humanname
405778529CV3250204single nucleotide variantNM_001367871.1(FBRSL1):c.46G>A (p.Asp16Asn)not specified [RCV004386360]uncertain significance12132490616132490616Humanname
405778562CV3250210single nucleotide variantNM_001367871.1(FBRSL1):c.80C>T (p.Ala27Val)not specified [RCV004386366]uncertain significance12132490650132490650Humanname
407493764CV3442463single nucleotide variantNM_001367871.1(FBRSL1):c.83G>A (p.Arg28His)not specified [RCV004621134]uncertain significance12132490653132490653Humanname
597699592CV3669267single nucleotide variantNM_001367871.1(FBRSL1):c.94C>A (p.Pro32Thr)not specified [RCV004916138]uncertain significance12132490664132490664Humanname
156399424CV2205110single nucleotide variantNM_001367871.1(FBRSL1):c.212G>A (p.Arg71His)not specified [RCV004077710]uncertain significance12132490782132490782Humanname
156267662CV2244061single nucleotide variantNM_001367871.1(FBRSL1):c.158C>A (p.Pro53His)not specified [RCV004108540]uncertain significance12132490728132490728Humanname
156274243CV2344213single nucleotide variantNM_001367871.1(FBRSL1):c.169G>A (p.Ala57Thr)not specified [RCV004197852]uncertain significance12132490739132490739Humanname
243049714CV2417072single nucleotide variantNM_001367871.1(FBRSL1):c.115G>T (p.Glu39Ter)See cases [RCV003151942]likely benign12132490685132490685Humanname
329381686CV2471262single nucleotide variantNM_001367871.1(FBRSL1):c.119C>T (p.Pro40Leu)not specified [RCV004280289]uncertain significance12132490689132490689Humanname
401883511CV2757952single nucleotide variantNM_001367871.1(FBRSL1):c.172G>A (p.Ala58Thr)not provided [RCV003679192]|not specified [RCV004337085]uncertain significance12132490742132490742Humanname
401910036CV2813734single nucleotide variantNM_001367871.1(FBRSL1):c.1326G>A (p.Pro442=)not provided [RCV003398309]likely benign12132571180132571180Humanname
401934223CV2813735single nucleotide variantNM_001367871.1(FBRSL1):c.1656C>T (p.His552=)not provided [RCV003410980]likely benign12132574519132574519Humanname
401910037CV2813736single nucleotide variantNM_001367871.1(FBRSL1):c.1929G>A (p.Pro643=)not provided [RCV003398310]likely benign12132581757132581757Humanname
401910039CV2813737single nucleotide variantNM_001367871.1(FBRSL1):c.2544G>A (p.Pro848=)not provided [RCV003398311]likely benign12132583313132583313Humanname
401910041CV2813738single nucleotide variantNM_001367871.1(FBRSL1):c.2961G>A (p.Ala987=)not provided [RCV003398312]likely benign12132583730132583730Humanname
405778222CV3250177single nucleotide variantNM_001367871.1(FBRSL1):c.158C>T (p.Pro53Leu)not specified [RCV004386333]uncertain significance12132490728132490728Humanname
405778234CV3250179single nucleotide variantNM_001367871.1(FBRSL1):c.161C>G (p.Pro54Arg)not specified [RCV004386335]uncertain significance12132490731132490731Humanname
407493729CV3442455single nucleotide variantNM_001367871.1(FBRSL1):c.170C>T (p.Ala57Val)not specified [RCV004621126]uncertain significance12132490740132490740Humanname
597719477CV3665793single nucleotide variantNM_001367871.1(FBRSL1):c.161C>A (p.Pro54His)not specified [RCV004918646]uncertain significance12132490731132490731Humanname
597719425CV3669289single nucleotide variantNM_001367871.1(FBRSL1):c.266G>C (p.Ser89Thr)not specified [RCV004918640]uncertain significance12132490836132490836Humanname
598129920CV3887344single nucleotide variantNM_001367871.1(FBRSL1):c.1068G>A (p.Pro356=)not provided [RCV005245405]likely benign12132570395132570395Humanname
598128303CV3887503single nucleotide variantNM_001367871.1(FBRSL1):c.1941G>A (p.Gly647=)not provided [RCV005243676]likely benign12132581769132581769Humanname
598128674CV3887881single nucleotide variantNM_001367871.1(FBRSL1):c.2712C>G (p.Arg904=)not provided [RCV005244055]likely benign12132583481132583481Humanname
598129188CV3888481single nucleotide variantNM_001367871.1(FBRSL1):c.1038G>A (p.Gly346=)not provided [RCV005244655]likely benign12132570365132570365Humanname
598129189CV3888482single nucleotide variantNM_001367871.1(FBRSL1):c.1734G>T (p.Val578=)not provided [RCV005244656]likely benign12132576831132576831Humanname
598122978CV3890128duplicationNM_001367871.1(FBRSL1):c.380dup (p.Ala128fs)not provided [RCV005250647]uncertain significance12132508235132508236Humanname
598226656CV3962579single nucleotide variantNM_001367871.1(FBRSL1):c.148C>T (p.Arg50Cys)not specified [RCV005341636]uncertain significance12132490718132490718Humanname
15164677CV702250single nucleotide variantNM_001367871.1(FBRSL1):c.2883G>C (p.Thr961=)not provided [RCV000948404]benign12132583652132583652Humanname
156143936CV2200123single nucleotide variantNM_001367871.1(FBRSL1):c.705G>C (p.Glu235Asp)not specified [RCV004069695]uncertain significance12132569939132569939Humanname
156091976CV2216700single nucleotide variantNM_001367871.1(FBRSL1):c.521G>A (p.Arg174Gln)not specified [RCV004083151]uncertain significance12132525765132525765Humanname
156298981CV2248579single nucleotide variantNM_001367871.1(FBRSL1):c.958G>A (p.Ala320Thr)not specified [RCV004121772]uncertain significance12132570192132570192Humanname
156307287CV2252834single nucleotide variantNM_001367871.1(FBRSL1):c.446C>T (p.Ala149Val)not specified [RCV004120448]uncertain significance12132508307132508307Humanname
155998824CV2261022single nucleotide variantNM_001367871.1(FBRSL1):c.379C>G (p.Pro127Ala)not specified [RCV004127682]uncertain significance12132508240132508240Humanname
156174502CV2290329single nucleotide variantNM_001367871.1(FBRSL1):c.569C>T (p.Pro190Leu)not specified [RCV004154763]uncertain significance12132525813132525813Humanname
155965576CV2308523single nucleotide variantNM_001367871.1(FBRSL1):c.815C>T (p.Ala272Val)not specified [RCV004166803]uncertain significance12132570049132570049Humanname
156261544CV2314743single nucleotide variantNM_001367871.1(FBRSL1):c.514G>A (p.Gly172Ser)not specified [RCV004170882]uncertain significance12132525758132525758Humanname
156327124CV2332055single nucleotide variantNM_001367871.1(FBRSL1):c.919C>T (p.Arg307Cys)not specified [RCV004189106]uncertain significance12132570153132570153Humanname
156304416CV2341529single nucleotide variantNM_001367871.1(FBRSL1):c.502G>A (p.Val168Met)not specified [RCV004188920]uncertain significance12132525746132525746Humanname
155901978CV2345905single nucleotide variantNM_001367871.1(FBRSL1):c.892A>G (p.Thr298Ala)not specified [RCV004198944]uncertain significance12132570126132570126Humanname
156227972CV2352873single nucleotide variantNM_001367871.1(FBRSL1):c.685G>A (p.Asp229Asn)not specified [RCV004200922]uncertain significance12132567520132567520Humanname
155987322CV2354896single nucleotide variantNM_001367871.1(FBRSL1):c.803C>T (p.Ala268Val)not specified [RCV004191392]uncertain significance12132570037132570037Humanname
155916185CV2366602single nucleotide variantNM_001367871.1(FBRSL1):c.850A>G (p.Asn284Asp)not specified [RCV004210619]uncertain significance12132570084132570084Humanname
156083659CV2381905single nucleotide variantNM_001367871.1(FBRSL1):c.458C>T (p.Ala153Val)not specified [RCV004225845]uncertain significance12132508319132508319Humanname
156084544CV2381995single nucleotide variantNM_001367871.1(FBRSL1):c.826G>A (p.Gly276Arg)not specified [RCV004225923]uncertain significance12132570060132570060Humanname
156153337CV2394958single nucleotide variantNM_001367871.1(FBRSL1):c.761G>A (p.Arg254His)not specified [RCV004234606]uncertain significance12132569995132569995Humanname
329354448CV2448196single nucleotide variantNM_001367871.1(FBRSL1):c.563G>A (p.Arg188Gln)not specified [RCV004263406]likely benign12132525807132525807Humanname
329393096CV2449491single nucleotide variantNM_001367871.1(FBRSL1):c.871C>A (p.Pro291Thr)not specified [RCV004268432]uncertain significance12132570105132570105Humanname
401767775CV2677812single nucleotide variantNM_001367871.1(FBRSL1):c.379C>T (p.Pro127Ser)not specified [RCV004294310]likely benign12132508240132508240Humanname
401721680CV2680626single nucleotide variantNM_001367871.1(FBRSL1):c.775G>A (p.Glu259Lys)not specified [RCV004291245]uncertain significance12132570009132570009Humanname
401782294CV2686661single nucleotide variantNM_001367871.1(FBRSL1):c.833C>T (p.Pro278Leu)not specified [RCV004300073]uncertain significance12132570067132570067Humanname
401729555CV2690334single nucleotide variantNM_001367871.1(FBRSL1):c.887G>A (p.Arg296His)not specified [RCV004302329]uncertain significance12132570121132570121Humanname
401776678CV2703316single nucleotide variantNM_001367871.1(FBRSL1):c.922G>A (p.Gly308Ser)not specified [RCV004315669]uncertain significance12132570156132570156Humanname
401719971CV2705596single nucleotide variantNM_001367871.1(FBRSL1):c.772G>A (p.Ala258Thr)not specified [RCV004318460]likely benign12132570006132570006Humanname
401884404CV2762816single nucleotide variantNM_001367871.1(FBRSL1):c.902C>T (p.Pro301Leu)not specified [RCV004340366]uncertain significance12132570136132570136Humanname
401894819CV2785344single nucleotide variantNM_001367871.1(FBRSL1):c.967G>A (p.Gly323Ser)not specified [RCV004357097]uncertain significance12132570201132570201Humanname
401898402CV2787861single nucleotide variantNM_001367871.1(FBRSL1):c.721G>T (p.Ala241Ser)not specified [RCV004358539]uncertain significance12132569955132569955Humanname
401895033CV2792724single nucleotide variantNM_001367871.1(FBRSL1):c.916C>T (p.Pro306Ser)not specified [RCV004365493]uncertain significance12132570150132570150Humanname
405778513CV3250201single nucleotide variantNM_001367871.1(FBRSL1):c.337C>T (p.Arg113Cys)not specified [RCV004386357]uncertain significance12132508198132508198Humanname
405778519CV3250202single nucleotide variantNM_001367871.1(FBRSL1):c.358C>G (p.Arg120Gly)not specified [RCV004386358]uncertain significance12132508219132508219Humanname
405778525CV3250203single nucleotide variantNM_001367871.1(FBRSL1):c.377C>T (p.Pro126Leu)not specified [RCV004386359]uncertain significance12132508238132508238Humanname
405778536CV3250205single nucleotide variantNM_001367871.1(FBRSL1):c.488A>G (p.Gln163Arg)not specified [RCV004386361]uncertain significance12132508349132508349Humanname
405778543CV3250206single nucleotide variantNM_001367871.1(FBRSL1):c.517G>A (p.Asp173Asn)not specified [RCV004386362]uncertain significance12132525761132525761Humanname
405778553CV3250208single nucleotide variantNM_001367871.1(FBRSL1):c.736A>C (p.Lys246Gln)not specified [RCV004386364]uncertain significance12132569970132569970Humanname
405778557CV3250209single nucleotide variantNM_001367871.1(FBRSL1):c.763G>A (p.Glu255Lys)not specified [RCV004386365]uncertain significance12132569997132569997Humanname
405778568CV3250211single nucleotide variantNM_001367871.1(FBRSL1):c.814G>A (p.Ala272Thr)not specified [RCV004386367]uncertain significance12132570048132570048Humanname
405778575CV3250212single nucleotide variantNM_001367871.1(FBRSL1):c.838G>A (p.Gly280Ser)not specified [RCV004386368]uncertain significance12132570072132570072Humanname
597719468CV3665792single nucleotide variantNM_001367871.1(FBRSL1):c.724G>A (p.Gly242Arg)not specified [RCV004918645]uncertain significance12132569958132569958Humanname
597719486CV3665794single nucleotide variantNM_001367871.1(FBRSL1):c.496G>T (p.Val166Phe)not specified [RCV004918647]uncertain significance12132525740132525740Humanname
597719514CV3665797single nucleotide variantNM_001367871.1(FBRSL1):c.577G>A (p.Asp193Asn)not specified [RCV004918650]uncertain significance12132525821132525821Humanname
597719532CV3665799single nucleotide variantNM_001367871.1(FBRSL1):c.731T>C (p.Val244Ala)not specified [RCV004918652]likely benign12132569965132569965Humanname
597698534CV3669265single nucleotide variantNM_001367871.1(FBRSL1):c.587C>T (p.Ala196Val)not specified [RCV004916136]uncertain significance12132527960132527960Humanname
597698586CV3669272single nucleotide variantNM_001367871.1(FBRSL1):c.532G>A (p.Asp178Asn)not specified [RCV004916143]uncertain significance12132525776132525776Humanname
597719315CV3669275single nucleotide variantNM_001367871.1(FBRSL1):c.911C>T (p.Pro304Leu)not specified [RCV004918626]uncertain significance12132570145132570145Humanname
597719322CV3669276single nucleotide variantNM_001367871.1(FBRSL1):c.382G>A (p.Ala128Thr)not specified [RCV004918627]uncertain significance12132508243132508243Humanname
597719328CV3669277single nucleotide variantNM_001367871.1(FBRSL1):c.964G>A (p.Ala322Thr)not specified [RCV004918628]uncertain significance12132570198132570198Humanname
597719361CV3669281single nucleotide variantNM_001367871.1(FBRSL1):c.350A>G (p.Lys117Arg)not specified [RCV004918632]uncertain significance12132508211132508211Humanname
598226559CV3962565single nucleotide variantNM_001367871.1(FBRSL1):c.482C>G (p.Ser161Cys)not specified [RCV005341623]uncertain significance12132508343132508343Humanname
598226579CV3962568single nucleotide variantNM_001367871.1(FBRSL1):c.449G>A (p.Cys150Tyr)not specified [RCV005341626]uncertain significance12132508310132508310Humanname
598226608CV3962573single nucleotide variantNM_001367871.1(FBRSL1):c.830C>A (p.Pro277His)not specified [RCV005341630]uncertain significance12132570064132570064Humanname
598226687CV3962584single nucleotide variantNM_001367871.1(FBRSL1):c.962T>G (p.Phe321Cys)not specified [RCV005341641]uncertain significance12132570196132570196Humanname
152978293CV1671489single nucleotide variantNM_001367871.1(FBRSL1):c.2810C>T (p.Ala937Val)FBRSL1-associated neurodevelopmental syndrome [RCV002227594]|not provided [RCV004694175]|not specified [RCV004917784]uncertain significance12132583579132583579Human1name , trait
156315002CV2196728single nucleotide variantNM_001367871.1(FBRSL1):c.2161C>G (p.His721Asp)not specified [RCV004069412]uncertain significance12132582226132582226Humanname
155963291CV2197846single nucleotide variantNM_001367871.1(FBRSL1):c.2033C>T (p.Ser678Phe)not specified [RCV004077081]uncertain significance12132582098132582098Humanname
156267471CV2198824single nucleotide variantNM_001367871.1(FBRSL1):c.2275C>T (p.Leu759Phe)not specified [RCV004077864]uncertain significance12132583044132583044Humanname
156267485CV2198825single nucleotide variantNM_001367871.1(FBRSL1):c.2905C>T (p.Pro969Ser)not specified [RCV004077865]uncertain significance12132583674132583674Humanname
155961198CV2204470single nucleotide variantNM_001367871.1(FBRSL1):c.2285G>C (p.Arg762Pro)not specified [RCV004079273]uncertain significance12132583054132583054Humanname
156371200CV2204491single nucleotide variantNM_001367871.1(FBRSL1):c.2149G>T (p.Ala717Ser)not specified [RCV004079290]uncertain significance12132582214132582214Humanname
156129941CV2209896single nucleotide variantNM_001367871.1(FBRSL1):c.1501G>A (p.Gly501Arg)not specified [RCV004076349]uncertain significance12132572593132572593Humanname
156043871CV2215888single nucleotide variantNM_001367871.1(FBRSL1):c.2342G>C (p.Arg781Pro)not specified [RCV004096975]uncertain significance12132583111132583111Humanname
156220500CV2222315single nucleotide variantNM_001367871.1(FBRSL1):c.1418G>A (p.Arg473Gln)not specified [RCV004105328]uncertain significance12132572328132572328Humanname
156243472CV2231517single nucleotide variantNM_001367871.1(FBRSL1):c.2879T>G (p.Val960Gly)not specified [RCV004096579]uncertain significance12132583648132583648Humanname
156124956CV2237461single nucleotide variantNM_001367871.1(FBRSL1):c.2341C>T (p.Arg781Trp)not specified [RCV004106422]uncertain significance12132583110132583110Humanname
156300753CV2244979single nucleotide variantNM_001367871.1(FBRSL1):c.2062G>A (p.Glu688Lys)not specified [RCV004104713]uncertain significance12132582127132582127Humanname
156301015CV2248916single nucleotide variantNM_001367871.1(FBRSL1):c.1703A>C (p.Glu568Ala)not specified [RCV004115922]uncertain significance12132576800132576800Humanname
156358490CV2251117single nucleotide variantNM_001367871.1(FBRSL1):c.2030G>A (p.Gly677Asp)not specified [RCV004123657]uncertain significance12132582095132582095Humanname
156339354CV2271404single nucleotide variantNM_001367871.1(FBRSL1):c.2525G>T (p.Arg842Leu)not specified [RCV004136511]uncertain significance12132583294132583294Humanname
156115615CV2273378single nucleotide variantNM_001367871.1(FBRSL1):c.1159C>T (p.Pro387Ser)not specified [RCV004132149]uncertain significance12132570486132570486Humanname
155925129CV2277247single nucleotide variantNM_001367871.1(FBRSL1):c.2389C>A (p.Pro797Thr)not specified [RCV004142867]uncertain significance12132583158132583158Humanname
156077952CV2281698single nucleotide variantNM_001367871.1(FBRSL1):c.2455G>C (p.Gly819Arg)not specified [RCV004147849]uncertain significance12132583224132583224Humanname
155905878CV2283219single nucleotide variantNM_001367871.1(FBRSL1):c.1681C>T (p.Arg561Cys)not specified [RCV004145895]uncertain significance12132574544132574544Humanname
156258720CV2304884single nucleotide variantNM_001367871.1(FBRSL1):c.2641C>T (p.Pro881Ser)not specified [RCV004168804]uncertain significance12132583410132583410Humanname
155961995CV2311981single nucleotide variantNM_001367871.1(FBRSL1):c.2621C>T (p.Ser874Phe)not specified [RCV004170798]uncertain significance12132583390132583390Humanname
156164363CV2323668single nucleotide variantNM_001367871.1(FBRSL1):c.1054T>C (p.Ser352Pro)not specified [RCV004165847]uncertain significance12132570381132570381Humanname
156172807CV2326804single nucleotide variantNM_001367871.1(FBRSL1):c.2128G>A (p.Val710Met)not specified [RCV004176639]uncertain significance12132582193132582193Humanname
156075202CV2331722single nucleotide variantNM_001367871.1(FBRSL1):c.2611G>A (p.Ala871Thr)not specified [RCV004184349]uncertain significance12132583380132583380Humanname
156077174CV2331861single nucleotide variantNM_001367871.1(FBRSL1):c.1943G>A (p.Gly648Asp)not specified [RCV004186517]uncertain significance12132581771132581771Humanname
156307609CV2332054single nucleotide variantNM_001367871.1(FBRSL1):c.1475C>A (p.Thr492Asn)not specified [RCV004189105]uncertain significance12132572567132572567Humanname
156327293CV2332083single nucleotide variantNM_001367871.1(FBRSL1):c.2899A>G (p.Thr967Ala)not specified [RCV004189129]uncertain significance12132583668132583668Humanname
156039709CV2332748single nucleotide variantNM_001367871.1(FBRSL1):c.1709A>G (p.Gln570Arg)not specified [RCV004189420]uncertain significance12132576806132576806Humanname
155918381CV2332992single nucleotide variantNM_001367871.1(FBRSL1):c.2650C>T (p.Pro884Ser)not specified [RCV004194292]uncertain significance12132583419132583419Humanname
156335934CV2333596single nucleotide variantNM_001367871.1(FBRSL1):c.2825T>A (p.Leu942His)not specified [RCV004190278]uncertain significance12132583594132583594Humanname
155973111CV2335877single nucleotide variantNM_001367871.1(FBRSL1):c.2561C>T (p.Pro854Leu)not specified [RCV004196101]uncertain significance12132583330132583330Humanname
155975006CV2341496single nucleotide variantNM_001367871.1(FBRSL1):c.1777G>A (p.Val593Met)not specified [RCV004188890]uncertain significance12132576874132576874Humanname
156063176CV2352713single nucleotide variantNM_001367871.1(FBRSL1):c.2108C>T (p.Pro703Leu)not specified [RCV004198737]uncertain significance12132582173132582173Humanname
156171675CV2355008single nucleotide variantNM_001367871.1(FBRSL1):c.2188G>A (p.Glu730Lys)not specified [RCV004198408]uncertain significance12132582253132582253Humanname
156189909CV2356682single nucleotide variantNM_001367871.1(FBRSL1):c.2458G>C (p.Glu820Gln)not specified [RCV004202040]uncertain significance12132583227132583227Humanname
156305467CV2369482single nucleotide variantNM_001367871.1(FBRSL1):c.1129G>A (p.Ala377Thr)not specified [RCV004210419]uncertain significance12132570456132570456Humanname
156345114CV2372870single nucleotide variantNM_001367871.1(FBRSL1):c.1418G>T (p.Arg473Leu)not specified [RCV004223919]uncertain significance12132572328132572328Humanname
156389044CV2376318single nucleotide variantNM_001367871.1(FBRSL1):c.2797C>T (p.Leu933Phe)not specified [RCV004222579]uncertain significance12132583566132583566Humanname
156347652CV2382943single nucleotide variantNM_001367871.1(FBRSL1):c.1616G>A (p.Arg539Gln)not specified [RCV004217535]uncertain significance12132574335132574335Humanname
156041970CV2387780single nucleotide variantNM_001367871.1(FBRSL1):c.2351A>G (p.Glu784Gly)not specified [RCV004234304]uncertain significance12132583120132583120Humanname
155965192CV2395931single nucleotide variantNM_001367871.1(FBRSL1):c.2569G>C (p.Gly857Arg)not specified [RCV004237486]uncertain significance12132583338132583338Humanname
155998497CV2396254single nucleotide variantNM_001367871.1(FBRSL1):c.2248A>C (p.Thr750Pro)not specified [RCV004240206]uncertain significance12132583017132583017Humanname
156007238CV2401290single nucleotide variantNM_001367871.1(FBRSL1):c.2500G>A (p.Ala834Thr)not specified [RCV004245834]uncertain significance12132583269132583269Humanname
329374870CV2440097single nucleotide variantNM_001367871.1(FBRSL1):c.2642C>T (p.Pro881Leu)not specified [RCV004260563]uncertain significance12132583411132583411Humanname
329392261CV2441362single nucleotide variantNM_001367871.1(FBRSL1):c.2567G>A (p.Arg856His)not specified [RCV004257169]uncertain significance12132583336132583336Humanname
329391128CV2447793single nucleotide variantNM_001367871.1(FBRSL1):c.2219C>T (p.Thr740Met)not specified [RCV004258572]uncertain significance12132582988132582988Humanname
329359348CV2450970single nucleotide variantNM_001367871.1(FBRSL1):c.1802A>G (p.Gln601Arg)not specified [RCV004267856]uncertain significance12132576899132576899Humanname
329363971CV2469580single nucleotide variantNM_001367871.1(FBRSL1):c.2746G>A (p.Ala916Thr)not specified [RCV004283013]uncertain significance12132583515132583515Humanname
401730675CV2686642single nucleotide variantNM_001367871.1(FBRSL1):c.2242C>T (p.Pro748Ser)not specified [RCV004300057]uncertain significance12132583011132583011Humanname
401772567CV2687737single nucleotide variantNM_001367871.1(FBRSL1):c.2375A>C (p.Glu792Ala)not specified [RCV004302725]uncertain significance12132583144132583144Humanname
401772568CV2687738single nucleotide variantNM_001367871.1(FBRSL1):c.2376G>C (p.Glu792Asp)not specified [RCV004302726]likely benign12132583145132583145Humanname
401733108CV2691205single nucleotide variantNM_001367871.1(FBRSL1):c.2254G>A (p.Ala752Thr)not specified [RCV004302979]uncertain significance12132583023132583023Humanname
401764272CV2708797single nucleotide variantNM_001367871.1(FBRSL1):c.2738C>T (p.Ala913Val)not specified [RCV004307753]uncertain significance12132583507132583507Humanname
401889181CV2761903single nucleotide variantNM_001367871.1(FBRSL1):c.2807C>T (p.Ala936Val)not specified [RCV004339537]uncertain significance12132583576132583576Humanname
401875547CV2766090single nucleotide variantNM_001367871.1(FBRSL1):c.2342G>A (p.Arg781Gln)not specified [RCV004340547]uncertain significance12132583111132583111Humanname
401866109CV2775420single nucleotide variantNM_001367871.1(FBRSL1):c.2582C>G (p.Pro861Arg)not specified [RCV004348818]uncertain significance12132583351132583351Humanname
401872142CV2792992single nucleotide variantNM_001367871.1(FBRSL1):c.2893C>A (p.Pro965Thr)not specified [RCV004360331]uncertain significance12132583662132583662Humanname
405778209CV3250175single nucleotide variantNM_001367871.1(FBRSL1):c.1103G>A (p.Arg368Gln)not specified [RCV004386331]uncertain significance12132570430132570430Humanname
405778228CV3250178single nucleotide variantNM_001367871.1(FBRSL1):c.1615C>T (p.Arg539Trp)not specified [RCV004386334]uncertain significance12132574334132574334Humanname
405778240CV3250180single nucleotide variantNM_001367871.1(FBRSL1):c.1769C>T (p.Ala590Val)not specified [RCV004386336]uncertain significance12132576866132576866Humanname
405778255CV3250182single nucleotide variantNM_001367871.1(FBRSL1):c.1855A>G (p.Asn619Asp)not specified [RCV004386338]uncertain significance12132581459132581459Humanname
405778259CV3250183single nucleotide variantNM_001367871.1(FBRSL1):c.1915C>T (p.Pro639Ser)not specified [RCV004386339]uncertain significance12132581743132581743Humanname
405778265CV3250184single nucleotide variantNM_001367871.1(FBRSL1):c.2021C>T (p.Pro674Leu)not specified [RCV004386340]uncertain significance12132582086132582086Humanname
405778270CV3250185single nucleotide variantNM_001367871.1(FBRSL1):c.2140C>T (p.Arg714Trp)not specified [RCV004386341]uncertain significance12132582205132582205Humanname
405778277CV3250186single nucleotide variantNM_001367871.1(FBRSL1):c.2180A>C (p.Asn727Thr)not specified [RCV004386342]uncertain significance12132582245132582245Humanname
405778283CV3250187single nucleotide variantNM_001367871.1(FBRSL1):c.2257G>A (p.Gly753Ser)not specified [RCV004386343]uncertain significance12132583026132583026Humanname
405778289CV3250188single nucleotide variantNM_001367871.1(FBRSL1):c.2272G>A (p.Gly758Ser)not specified [RCV004386344]likely benign12132583041132583041Humanname
405778296CV3250189single nucleotide variantNM_001367871.1(FBRSL1):c.2287G>A (p.Ala763Thr)not specified [RCV004386345]uncertain significance12132583056132583056Humanname
405778308CV3250191single nucleotide variantNM_001367871.1(FBRSL1):c.2534T>C (p.Leu845Pro)not specified [RCV004386347]uncertain significance12132583303132583303Humanname
405778319CV3250193single nucleotide variantNM_001367871.1(FBRSL1):c.2596C>T (p.Pro866Ser)not specified [RCV004386349]uncertain significance12132583365132583365Humanname
405778331CV3250195single nucleotide variantNM_001367871.1(FBRSL1):c.2821G>A (p.Gly941Arg)not specified [RCV004386351]uncertain significance12132583590132583590Humanname
405778337CV3250196single nucleotide variantNM_001367871.1(FBRSL1):c.2824C>T (p.Leu942Phe)not specified [RCV004386352]uncertain significance12132583593132583593Humanname
405778343CV3250197single nucleotide variantNM_001367871.1(FBRSL1):c.2870C>T (p.Pro957Leu)not specified [RCV004386353]uncertain significance12132583639132583639Humanname
405778349CV3250198single nucleotide variantNM_001367871.1(FBRSL1):c.2903C>T (p.Pro968Leu)not specified [RCV004386354]uncertain significance12132583672132583672Humanname
405778502CV3250199single nucleotide variantNM_001367871.1(FBRSL1):c.2944C>T (p.Leu982Phe)not specified [RCV004386355]uncertain significance12132583713132583713Humanname
405778508CV3250200single nucleotide variantNM_001367871.1(FBRSL1):c.2972C>A (p.Ser991Tyr)not specified [RCV004386356]uncertain significance12132583741132583741Humanname
407493726CV3442454single nucleotide variantNM_001367871.1(FBRSL1):c.2662C>T (p.Arg888Cys)not specified [RCV004621125]uncertain significance12132583431132583431Humanname
407493733CV3442456single nucleotide variantNM_001367871.1(FBRSL1):c.2475G>T (p.Glu825Asp)not specified [RCV004621127]uncertain significance12132583244132583244Humanname
407493738CV3442457single nucleotide variantNM_001367871.1(FBRSL1):c.2480C>T (p.Pro827Leu)not specified [RCV004621128]uncertain significance12132583249132583249Humanname
407493748CV3442459single nucleotide variantNM_001367871.1(FBRSL1):c.2059C>A (p.His687Asn)not specified [RCV004621130]uncertain significance12132582124132582124Humanname
407493752CV3442460single nucleotide variantNM_001367871.1(FBRSL1):c.1936T>C (p.Phe646Leu)not specified [RCV004621131]uncertain significance12132581764132581764Humanname
407493756CV3442461single nucleotide variantNM_001367871.1(FBRSL1):c.2515G>C (p.Gly839Arg)not specified [RCV004621132]uncertain significance12132583284132583284Humanname
407493760CV3442462single nucleotide variantNM_001367871.1(FBRSL1):c.2875C>G (p.Leu959Val)not specified [RCV004621133]uncertain significance12132583644132583644Humanname
407493768CV3442464single nucleotide variantNM_001367871.1(FBRSL1):c.2830G>T (p.Ala944Ser)not specified [RCV004621135]uncertain significance12132583599132583599Humanname
597719507CV3665796single nucleotide variantNM_001367871.1(FBRSL1):c.2191G>C (p.Glu731Gln)not specified [RCV004918649]uncertain significance12132582256132582256Humanname
597719540CV3665800single nucleotide variantNM_001367871.1(FBRSL1):c.1135A>G (p.Met379Val)not specified [RCV004918653]uncertain significance12132570462132570462Humanname
597719550CV3665801single nucleotide variantNM_001367871.1(FBRSL1):c.2135C>G (p.Ala712Gly)not specified [RCV004918654]uncertain significance12132582200132582200Humanname
597719557CV3665802single nucleotide variantNM_001367871.1(FBRSL1):c.2060A>G (p.His687Arg)not specified [RCV004918655]uncertain significance12132582125132582125Humanname
597719567CV3665803single nucleotide variantNM_001367871.1(FBRSL1):c.1178C>T (p.Pro393Leu)not specified [RCV004918656]uncertain significance12132570505132570505Humanname
597698543CV3669266single nucleotide variantNM_001367871.1(FBRSL1):c.2164G>A (p.Asp722Asn)not specified [RCV004916137]uncertain significance12132582229132582229Humanname
597698563CV3669269single nucleotide variantNM_001367871.1(FBRSL1):c.1025C>T (p.Pro342Leu)not specified [RCV004916140]uncertain significance12132570352132570352Humanname
597698570CV3669270single nucleotide variantNM_001367871.1(FBRSL1):c.2887G>T (p.Ala963Ser)not specified [RCV004916141]uncertain significance12132583656132583656Humanname
597698578CV3669271single nucleotide variantNM_001367871.1(FBRSL1):c.1013G>A (p.Ser338Asn)not specified [RCV004916142]uncertain significance12132570340132570340Humanname
597719296CV3669273single nucleotide variantNM_001367871.1(FBRSL1):c.2252C>G (p.Pro751Arg)not specified [RCV004918624]uncertain significance12132583021132583021Humanname
597719306CV3669274single nucleotide variantNM_001367871.1(FBRSL1):c.2900C>A (p.Thr967Lys)not specified [RCV004918625]uncertain significance12132583669132583669Humanname
597719335CV3669278single nucleotide variantNM_001367871.1(FBRSL1):c.1063G>A (p.Gly355Arg)not specified [RCV004918629]uncertain significance12132570390132570390Humanname
597719369CV3669282single nucleotide variantNM_001367871.1(FBRSL1):c.1798C>A (p.Pro600Thr)not specified [RCV004918633]uncertain significance12132576895132576895Humanname
597719377CV3669283single nucleotide variantNM_001367871.1(FBRSL1):c.2302G>A (p.Gly768Ser)not specified [RCV004918634]uncertain significance12132583071132583071Humanname
597719392CV3669285single nucleotide variantNM_001367871.1(FBRSL1):c.2425C>T (p.Pro809Ser)not specified [RCV004918636]uncertain significance12132583194132583194Humanname
597719407CV3669287single nucleotide variantNM_001367871.1(FBRSL1):c.1814G>T (p.Arg605Leu)not specified [RCV004918638]uncertain significance12132576911132576911Humanname
597719415CV3669288single nucleotide variantNM_001367871.1(FBRSL1):c.2431G>A (p.Asp811Asn)not specified [RCV004918639]uncertain significance12132583200132583200Humanname
597719434CV3669290single nucleotide variantNM_001367871.1(FBRSL1):c.2527G>A (p.Glu843Lys)not specified [RCV004918641]uncertain significance12132583296132583296Humanname
597719442CV3669291single nucleotide variantNM_001367871.1(FBRSL1):c.2611G>C (p.Ala871Pro)not specified [RCV004918642]uncertain significance12132583380132583380Humanname
597719451CV3669292single nucleotide variantNM_001367871.1(FBRSL1):c.2588G>A (p.Arg863His)not specified [RCV004918643]uncertain significance12132583357132583357Humanname
597719459CV3669293single nucleotide variantNM_001367871.1(FBRSL1):c.2288C>G (p.Ala763Gly)not specified [RCV004918644]likely benign12132583057132583057Humanname
598222574CV3893894single nucleotide variantNM_001367871.1(FBRSL1):c.2669C>T (p.Pro890Leu)not provided [RCV005257137]likely benign12132583438132583438Humanname
598226566CV3962566single nucleotide variantNM_001367871.1(FBRSL1):c.1000G>A (p.Gly334Ser)not specified [RCV005341624]likely benign12132570234132570234Humanname
598271701CV3962569single nucleotide variantNM_001367871.1(FBRSL1):c.1814G>A (p.Arg605Gln)not specified [RCV005327802]uncertain significance12132576911132576911Humanname
598226592CV3962571single nucleotide variantNM_001367871.1(FBRSL1):c.2723C>G (p.Pro908Arg)not specified [RCV005341628]uncertain significance12132583492132583492Humanname
598226616CV3962574single nucleotide variantNM_001367871.1(FBRSL1):c.1918T>C (p.Phe640Leu)not specified [RCV005341631]uncertain significance12132581746132581746Humanname
598226634CV3962576single nucleotide variantNM_001367871.1(FBRSL1):c.1918T>G (p.Phe640Val)not specified [RCV005341633]uncertain significance12132581746132581746Humanname
598226643CV3962577single nucleotide variantNM_001367871.1(FBRSL1):c.2168G>A (p.Arg723Gln)not specified [RCV005341634]uncertain significance12132582233132582233Humanname
598226665CV3962580single nucleotide variantNM_001367871.1(FBRSL1):c.1471C>T (p.Pro491Ser)not specified [RCV005341637]uncertain significance12132572563132572563Humanname
598226676CV3962582single nucleotide variantNM_001367871.1(FBRSL1):c.1636G>A (p.Gly546Arg)not specified [RCV005341639]uncertain significance12132574499132574499Humanname
598226682CV3962583single nucleotide variantNM_001367871.1(FBRSL1):c.2959G>A (p.Ala987Thr)not specified [RCV005341640]uncertain significance12132583728132583728Humanname
40815112CV970319single nucleotide variantNM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu)Moyamoya angiopathy [RCV004704493]likely pathogenic12132572614132572614Humanname
156445011CV1949070duplicationNM_001367871.1(FBRSL1):c.885_899dup (p.Pro299_Gln300insHisArgHisThrPro)not provided [RCV003115945]uncertain significance12132570111132570112Humanname