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


327 records found for search term Flad1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
12835559CV364469single nucleotide variantNM_025207.5(FLAD1):c.-27A>Gnot specified [RCV000421891]likely benign1154983668154983668Humanname
12833161CV364466single nucleotide variantNM_025207.5(FLAD1):c.-304C>Tnot specified [RCV000417999]likely benign1154983391154983391Humanname
14730447CV657098single nucleotide variantNM_025207.4(FLAD1):c.-447C>Tnot provided [RCV000835684]benign1154983248154983248Humanname
152108912CV1530032single nucleotide variantNM_025207.5(FLAD1):c.373-7C>Tnot provided [RCV002196513]likely benign1154988098154988098Humanname
156223319CV1965636single nucleotide variantNM_025207.5(FLAD1):c.373-8A>Gnot provided [RCV002596540]uncertain significance1154988097154988097Humanname
156043225CV1977926single nucleotide variantNM_025207.5(FLAD1):c.373-3C>Anot provided [RCV002590407]uncertain significance1154988102154988102Humanname
156413516CV1979039single nucleotide variantNM_025207.5(FLAD1):c.373-5C>Tnot provided [RCV002608864]likely benign1154988100154988100Humanname
156404058CV1986063single nucleotide variantNM_025207.5(FLAD1):c.373-3C>Gnot provided [RCV002657964]likely pathogenic|uncertain significance1154988102154988102Humanname
152116951CV1535163single nucleotide variantNM_025207.5(FLAD1):c.372+10G>Anot provided [RCV002097622]likely benign1154984076154984076Humanname
152087386CV1536387single nucleotide variantNM_025207.5(FLAD1):c.373-14C>Gnot provided [RCV002171361]likely benign1154988091154988091Humanname
152079565CV1620580single nucleotide variantNM_025207.5(FLAD1):c.1365-9C>Tnot provided [RCV002112565]likely benign1154990330154990330Humanname
155698724CV1856808single nucleotide variantNM_025207.5(FLAD1):c.1628+4A>Gnot provided [RCV002444363]not provided1154992790154992790Humanname
156148715CV1878820single nucleotide variantNM_025207.5(FLAD1):c.1117+4G>Cnot provided [RCV003056455]uncertain significance1154988853154988853Humanname
156392417CV2005920single nucleotide variantNM_025207.5(FLAD1):c.372+12A>Cnot provided [RCV002680898]likely benign1154984078154984078Humanname
156135364CV2181494single nucleotide variantNM_025207.5(FLAD1):c.1266-1G>Anot provided [RCV003039846]likely pathogenic1154990158154990158Humanname
156302938CV2189814single nucleotide variantNM_025207.5(FLAD1):c.1117+1G>Tnot provided [RCV003062047]likely pathogenic1154988850154988850Humanname
405081173CV2941796single nucleotide variantNM_025207.5(FLAD1):c.1555-1G>Cnot provided [RCV003664603]likely pathogenic1154992712154992712Humanname
405109795CV3136882single nucleotide variantNM_025207.5(FLAD1):c.373-14C>Tnot provided [RCV003836036]likely benign1154988091154988091Humanname
405172388CV3151784single nucleotide variantNM_025207.5(FLAD1):c.1118-8C>Gnot provided [RCV003857935]likely benign1154989552154989552Humanname
404993342CV3176440single nucleotide variantNM_025207.5(FLAD1):c.1555-4C>TFLAD1-related disorder [RCV003893579]|not provided [RCV003881872]likely benign1154992709154992709Human1name , trait , alternate_id
597909587CV3781942single nucleotide variantNM_025207.5(FLAD1):c.372+14A>Cnot provided [RCV005128434]likely benign1154984080154984080Humanname
597870005CV3858551single nucleotide variantNM_025207.5(FLAD1):c.1118-7T>Anot provided [RCV005197293]likely benign1154989553154989553Humanname
12900875CV404944microsatelliteNM_025207.5(FLAD1):c.-294AG[1]not specified [RCV000483385]likely benign1154983400154983401Humanname
150414411CV1175757single nucleotide variantNM_025207.5(FLAD1):c.372+186C>Gnot provided [RCV001548116]likely benign1154984252154984252Humanname
150417214CV1179122single nucleotide variantNM_025207.5(FLAD1):c.373-516G>Anot provided [RCV001550021]likely benign1154987589154987589Humanname
150422390CV1179123single nucleotide variantNM_025207.5(FLAD1):c.1118-33C>Tnot provided [RCV001552570]likely benign1154989527154989527Humanname
150502690CV1241623single nucleotide variantNM_025207.5(FLAD1):c.372+120C>Anot provided [RCV001657214]benign1154984186154984186Humanname
150460533CV1253121single nucleotide variantNM_025207.5(FLAD1):c.372+218G>Cnot provided [RCV001669450]benign1154984284154984284Humanname
152055595CV1662639single nucleotide variantNM_025207.5(FLAD1):c.1265+15G>Anot provided [RCV002146182]likely benign1154989722154989722Humanname
156416624CV1901599single nucleotide variantNM_025207.5(FLAD1):c.1265+10C>Tnot provided [RCV002610274]likely benign1154989717154989717Humanname
156276347CV2004962single nucleotide variantNM_025207.5(FLAD1):c.1364+12C>Gnot provided [RCV002646697]likely benign1154990269154990269Humanname
156367129CV2010836single nucleotide variantNM_025207.5(FLAD1):c.1117+10T>Anot provided [RCV002676641]likely benign1154988859154988859Humanname
156301610CV2013491single nucleotide variantNM_025207.5(FLAD1):c.1265+14C>Gnot provided [RCV002716087]likely benign1154989721154989721Humanname
156235062CV2021542single nucleotide variantNM_025207.5(FLAD1):c.1628+18A>Gnot provided [RCV002745455]likely benign1154992804154992804Humanname
156134636CV2113240single nucleotide variantNM_025207.5(FLAD1):c.1629-10C>GFLAD1-related disorder [RCV004756441]|not provided [RCV002928332]likely benign1154992892154992892Human1name , trait , alternate_id
405058501CV2928947deletionNM_025207.5(FLAD1):c.1364+21delnot provided [RCV003580299]likely benign1154990276154990276Humanname
404981767CV3121407single nucleotide variantNM_025207.5(FLAD1):c.1554+12G>Tnot provided [RCV003826206]likely benign1154990540154990540Humanname
405012601CV3128206single nucleotide variantNM_025207.5(FLAD1):c.1265+14C>Tnot provided [RCV003829086]likely benign1154989721154989721Humanname
405179155CV3147344single nucleotide variantNM_025207.5(FLAD1):c.1628+13G>Cnot provided [RCV003842246]likely benign1154992799154992799Humanname
405174084CV3150519single nucleotide variantNM_025207.5(FLAD1):c.1118-17C>Anot provided [RCV003841793]likely benign1154989543154989543Humanname
405181306CV3159501single nucleotide variantNM_025207.5(FLAD1):c.1364+12C>Anot provided [RCV003858751]likely benign1154990269154990269Humanname
597886295CV3741808single nucleotide variantNM_025207.5(FLAD1):c.1117+16A>Gnot provided [RCV005070527]likely benign1154988865154988865Humanname
597848950CV3746532single nucleotide variantNM_025207.5(FLAD1):c.1365-13G>Anot provided [RCV005060351]likely benign1154990326154990326Humanname
597971417CV3750722single nucleotide variantNM_025207.5(FLAD1):c.1629-13C>Tnot provided [RCV005084466]likely benign1154992889154992889Humanname
597865828CV3834373single nucleotide variantNM_025207.5(FLAD1):c.1117+20G>Cnot provided [RCV005175740]likely benign1154988869154988869Humanname
13537509CV498048single nucleotide variantNM_025207.5(FLAD1):c.1555-19T>Gnot provided [RCV002531713]|not specified [RCV000610502]likely benign1154992694154992694Humanname
13540446CV498092single nucleotide variantNM_025207.5(FLAD1):c.1555-10G>Anot specified [RCV000614710]likely benign1154992703154992703Humanname
14730453CV657085single nucleotide variantNM_025207.5(FLAD1):c.373-562T>Gnot provided [RCV000835686]benign1154987543154987543Humanname
14730450CV657088single nucleotide variantNM_025207.5(FLAD1):c.373-699A>Gnot provided [RCV000835685]benign1154987406154987406Humanname
14730455CV657099single nucleotide variantNM_025207.5(FLAD1):c.1555-76G>Tnot provided [RCV000835687]benign1154992637154992637Human2name
14730455CV657099single nucleotide variantNM_025207.5(FLAD1):c.1555-76G>Tnot provided [RCV000835687]benign1154992637154992638Human2name
150418325CV1179124single nucleotide variantNM_025207.5(FLAD1):c.1555-235C>Anot provided [RCV001550552]likely benign1154992478154992478Humanname
150513688CV1229108single nucleotide variantNM_025207.5(FLAD1):c.1117+123T>Gnot provided [RCV001637950]benign1154988972154988972Humanname
150468464CV1267938single nucleotide variantNM_025207.5(FLAD1):c.1118-330A>Gnot provided [RCV001694801]benign1154989230154989230Humanname
150478552CV1281992single nucleotide variantNM_025207.5(FLAD1):c.1117+133A>Gnot provided [RCV001714314]benign1154988982154988982Humanname
401933027CV2805994single nucleotide variantNM_025207.5(FLAD1):c.1555-156A>Gnot provided [RCV003409080]likely benign1154992557154992557Humanname
152157111CV1586093deletionNM_025207.5(FLAD1):c.372+24_372+25delMyopathy with abnormal lipid metabolism [RCV005232890]|not provided [RCV002140290]likely benign1154984086154984087Human1name
405127601CV3013856single nucleotide variantNM_025207.5(FLAD1):c.78G>A (p.Lys26=)not provided [RCV003701364]likely benign1154983772154983772Humanname
405071586CV3037492single nucleotide variantNM_025207.5(FLAD1):c.36G>A (p.Arg12=)not provided [RCV003698258]likely benign1154983730154983730Humanname
597922632CV3777764deletionNM_025207.5(FLAD1):c.1364+1_1364+3delnot provided [RCV005130488]likely pathogenic1154990258154990260Humanname
152083987CV1533388single nucleotide variantNM_025207.5(FLAD1):c.120C>G (p.Leu40=)not provided [RCV002093225]likely benign1154983814154983814Humanname
156202543CV1925753single nucleotide variantNM_025207.5(FLAD1):c.216C>T (p.Pro72=)not provided [RCV002643684]likely benign1154983910154983910Humanname
156113201CV1998637single nucleotide variantNM_025207.5(FLAD1):c.207G>C (p.Leu69=)not provided [RCV002640024]likely benign1154983901154983901Humanname
156098667CV2004798single nucleotide variantNM_025207.5(FLAD1):c.282A>G (p.Glu94=)not provided [RCV002639497]likely benign1154983976154983976Humanname
405198199CV2973038single nucleotide variantNM_025207.5(FLAD1):c.264C>T (p.Ala88=)not provided [RCV003677904]likely benign1154983958154983958Humanname
402482831CV3001337single nucleotide variantNM_025207.5(FLAD1):c.189C>G (p.Pro63=)not provided [RCV003686752]likely benign1154983883154983883Humanname
405166177CV3059559single nucleotide variantNM_025207.5(FLAD1):c.232C>T (p.Leu78=)not provided [RCV003727414]likely benign1154983926154983926Humanname
405245015CV3161675single nucleotide variantNM_025207.5(FLAD1):c.198T>C (p.Pro66=)not provided [RCV003868388]likely benign1154983892154983892Humanname
597933077CV3742720single nucleotide variantNM_025207.5(FLAD1):c.186C>G (p.Gly62=)not provided [RCV005076159]likely benign1154983880154983880Humanname
597911714CV3745647single nucleotide variantNM_025207.5(FLAD1):c.207G>A (p.Leu69=)not provided [RCV005073648]likely benign1154983901154983901Humanname
597963632CV3754186single nucleotide variantNM_025207.5(FLAD1):c.168C>T (p.Pro56=)not provided [RCV005082293]likely benign1154983862154983862Humanname
597860703CV3770132single nucleotide variantNM_025207.5(FLAD1):c.192G>A (p.Gln64=)not provided [RCV005105984]likely benign1154983886154983886Humanname
126729830CV1019180duplicationNM_025207.5(FLAD1):c.210dup (p.Gly71fs)not provided [RCV002995055]pathogenic|uncertain significance1154983903154983904Humanname
151812374CV1359620single nucleotide variantNM_025207.5(FLAD1):c.97G>A (p.Gly33Arg)not provided [RCV001991957]uncertain significance1154983791154983791Humanname
152108373CV1634855single nucleotide variantNM_025207.5(FLAD1):c.609C>T (p.Pro203=)FLAD1-related disorder [RCV003948884]|not provided [RCV002079911]likely benign1154988341154988341Human1name , trait , alternate_id
156321137CV1897849single nucleotide variantNM_025207.5(FLAD1):c.696C>T (p.Gly232=)not provided [RCV002579249]likely benign|uncertain significance1154988428154988428Humanname
156444989CV1949043single nucleotide variantNM_025207.5(FLAD1):c.387C>T (p.Asp129=)not provided [RCV003115923]likely benign1154988119154988119Humanname
156115216CV1958216single nucleotide variantNM_025207.5(FLAD1):c.33G>C (p.Gln11His)not provided [RCV002592919]uncertain significance1154983727154983727Humanname
156394282CV1962616single nucleotide variantNM_025207.5(FLAD1):c.441C>T (p.Cys147=)not provided [RCV002584202]likely benign1154988173154988173Humanname
156409285CV1965191single nucleotide variantNM_025207.5(FLAD1):c.648C>A (p.Gly216=)not provided [RCV002586772]likely benign1154988380154988380Humanname
156312788CV2078978single nucleotide variantNM_025207.5(FLAD1):c.414A>G (p.Thr138=)not provided [RCV002898815]likely benign1154988146154988146Humanname
156165317CV2090822single nucleotide variantNM_025207.5(FLAD1):c.73G>C (p.Glu25Gln)not provided [RCV002872813]uncertain significance1154983767154983767Humanname
156267601CV2092304single nucleotide variantNM_025207.5(FLAD1):c.711T>C (p.Thr237=)not provided [RCV002895815]likely benign1154988443154988443Humanname
156300465CV2104912single nucleotide variantNM_025207.5(FLAD1):c.537C>T (p.Ile179=)not provided [RCV002922549]likely benign1154988269154988269Humanname
155961189CV2131846single nucleotide variantNM_025207.5(FLAD1):c.360T>C (p.Asp120=)not provided [RCV002995162]likely benign1154984054154984054Humanname
401762466CV2723454single nucleotide variantNM_025207.5(FLAD1):c.53G>A (p.Arg18His)Inborn genetic diseases [RCV003300212]uncertain significance1154983747154983747Human1name
405029423CV3012501single nucleotide variantNM_025207.5(FLAD1):c.435G>A (p.Gln145=)not provided [RCV003695452]likely benign1154988167154988167Humanname
405079059CV3031842single nucleotide variantNM_025207.5(FLAD1):c.849G>A (p.Glu283=)not provided [RCV003698739]likely benign1154988581154988581Humanname
405091357CV3044865single nucleotide variantNM_025207.5(FLAD1):c.339T>C (p.Ala113=)not provided [RCV003717842]likely benign1154984033154984033Humanname
405142471CV3046144single nucleotide variantNM_025207.5(FLAD1):c.750C>T (p.Asn250=)not provided [RCV003725707]likely benign1154988482154988482Humanname
405227687CV3065597single nucleotide variantNM_025207.5(FLAD1):c.525A>G (p.Thr175=)not provided [RCV003734340]likely benign1154988257154988257Humanname
405147559CV3152115single nucleotide variantNM_025207.5(FLAD1):c.972G>A (p.Lys324=)not provided [RCV003856086]likely benign1154988704154988704Humanname
405191309CV3157077single nucleotide variantNM_025207.5(FLAD1):c.664T>C (p.Leu222=)not provided [RCV003859765]likely benign1154988396154988396Humanname
405234700CV3168483single nucleotide variantNM_025207.5(FLAD1):c.921G>A (p.Arg307=)not provided [RCV003865957]likely benign1154988653154988653Humanname
405272520CV3201334single nucleotide variantNM_025207.5(FLAD1):c.675C>G (p.Ser225=)FLAD1-related disorder [RCV003901398]likely benign1154988407154988407Humanname , trait , alternate_id
408387358CV3527033single nucleotide variantNM_025207.5(FLAD1):c.35G>A (p.Arg12Lys)not provided [RCV004773335]uncertain significance1154983729154983729Humanname
12843088CV364413single nucleotide variantNM_025207.5(FLAD1):c.645A>G (p.Glu215=)not provided [RCV000888470]|not specified [RCV000435598]likely benign1154988377154988377Humanname
12840954CV364539single nucleotide variantNM_025207.5(FLAD1):c.729C>T (p.Phe243=)Myopathy with abnormal lipid metabolism [RCV002502520]|not provided [RCV000951235]benign|likely benign1154988461154988461Human1name
597653967CV3666326single nucleotide variantNM_025207.5(FLAD1):c.85G>T (p.Val29Phe)Inborn genetic diseases [RCV004975131]uncertain significance1154983779154983779Human1name
597923221CV3738593single nucleotide variantNM_025207.5(FLAD1):c.717A>G (p.Gln239=)not provided [RCV005075001]likely benign1154988449154988449Humanname
597883695CV3745390single nucleotide variantNM_025207.5(FLAD1):c.735G>A (p.Leu245=)not provided [RCV005070226]likely benign1154988467154988467Humanname
597961208CV3753194single nucleotide variantNM_025207.5(FLAD1):c.951C>A (p.Gly317=)not provided [RCV005081694]likely benign1154988683154988683Humanname
597963385CV3753929single nucleotide variantNM_025207.5(FLAD1):c.558G>A (p.Val186=)not provided [RCV005082233]likely benign1154988290154988290Humanname
597833350CV3831531single nucleotide variantNM_025207.5(FLAD1):c.300T>G (p.Ser100=)not provided [RCV005170733]likely benign1154983994154983994Humanname
15143787CV780342single nucleotide variantNM_025207.5(FLAD1):c.627C>T (p.Thr209=)not provided [RCV000983385]likely benign1154988359154988359Humanname
15141831CV780343single nucleotide variantNM_025207.5(FLAD1):c.798G>A (p.Glu266=)not provided [RCV000983049]likely benign1154988530154988530Humanname
38467449CV920627single nucleotide variantNM_025207.5(FLAD1):c.573G>C (p.Val191=)not provided [RCV001200366]likely benign1154988305154988305Humanname
126727856CV1015550deletionNM_025207.5(FLAD1):c.825del (p.Ala276fs)Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency [RCV001332607]pathogenic1154988557154988557Humanname
150338608CV1174243deletionNM_025207.5(FLAD1):c.797del (p.Glu266fs)Myopathy with abnormal lipid metabolism [RCV001542637]pathogenic1154988529154988529Human1name
150528078CV1302748single nucleotide variantNM_025207.5(FLAD1):c.292A>G (p.Met98Val)not provided [RCV001754971]uncertain significance1154983986154983986Humanname
151731350CV1335555single nucleotide variantNM_025207.5(FLAD1):c.203A>G (p.Asp68Gly)not provided [RCV001847397]uncertain significance1154983897154983897Humanname
151812724CV1371638single nucleotide variantNM_025207.5(FLAD1):c.241G>T (p.Gly81Cys)Inborn genetic diseases [RCV004616872]|not provided [RCV001933368]uncertain significance1154983935154983935Human1name
151721830CV1406548single nucleotide variantNM_025207.5(FLAD1):c.136T>C (p.Trp46Arg)not provided [RCV002003788]uncertain significance1154983830154983830Humanname
151850180CV1464863single nucleotide variantNM_025207.5(FLAD1):c.122C>T (p.Pro41Leu)not provided [RCV001995858]uncertain significance1154983816154983816Humanname
152109272CV1556501single nucleotide variantNM_025207.5(FLAD1):c.1530A>G (p.Ala510=)FLAD1-related disorder [RCV003893310]|not provided [RCV002096621]likely benign1154990504154990504Human1name , trait , alternate_id
152124926CV1646091single nucleotide variantNM_025207.5(FLAD1):c.1002C>A (p.Pro334=)not provided [RCV002217269]likely benign1154988734154988734Humanname
155795094CV1858918single nucleotide variantNM_025207.5(FLAD1):c.1552C>T (p.Leu518=)not provided [RCV002463883]not provided1154990526154990526Humanname
156252591CV1883939single nucleotide variantNM_025207.5(FLAD1):c.1527C>T (p.Pro509=)not provided [RCV003086158]likely benign1154990501154990501Humanname
155978517CV1886246single nucleotide variantNM_025207.5(FLAD1):c.1237C>T (p.Leu413=)not provided [RCV003075533]likely benign1154989679154989679Humanname
156342585CV1896982single nucleotide variantNM_025207.5(FLAD1):c.1107C>T (p.Leu369=)not provided [RCV003090447]likely benign1154988839154988839Humanname
156304198CV1916306single nucleotide variantNM_025207.5(FLAD1):c.1671G>A (p.Pro557=)not provided [RCV002599318]likely benign1154992944154992944Humanname
156139275CV1973525single nucleotide variantNM_025207.5(FLAD1):c.277A>G (p.Arg93Gly)not provided [RCV002593773]uncertain significance1154983971154983971Humanname
156248950CV1988361single nucleotide variantNM_025207.5(FLAD1):c.112C>G (p.Pro38Ala)not provided [RCV002645831]uncertain significance1154983806154983806Humanname
156323508CV1988598single nucleotide variantNM_025207.5(FLAD1):c.1443G>A (p.Leu481=)not provided [RCV002649405]likely benign1154990417154990417Humanname
156350957CV1997583single nucleotide variantNM_025207.5(FLAD1):c.1488T>C (p.Cys496=)not provided [RCV002675589]likely benign1154990462154990462Humanname
156176320CV2000449single nucleotide variantNM_025207.5(FLAD1):c.157A>T (p.Thr53Ser)not provided [RCV002642883]uncertain significance1154983851154983851Humanname
156202340CV2010991single nucleotide variantNM_025207.5(FLAD1):c.1242C>T (p.His414=)not provided [RCV002700322]likely benign1154989684154989684Humanname
156322188CV2014647single nucleotide variantNM_025207.5(FLAD1):c.1758C>T (p.Arg586=)not provided [RCV002672275]likely benign1154993031154993031Humanname
156059879CV2034473single nucleotide variantNM_025207.5(FLAD1):c.1381T>C (p.Leu461=)not provided [RCV002736801]likely benign1154990355154990355Humanname
156062745CV2057492single nucleotide variantNM_025207.5(FLAD1):c.278G>A (p.Arg93Lys)not provided [RCV002797155]uncertain significance1154983972154983972Humanname
156105510CV2061195single nucleotide variantNM_025207.5(FLAD1):c.1731G>A (p.Glu577=)not provided [RCV002824713]likely benign1154993004154993004Humanname
156308547CV2076116single nucleotide variantNM_025207.5(FLAD1):c.1485C>G (p.Ser495=)not provided [RCV002857530]likely benign1154990459154990459Humanname
156220173CV2080823deletionNM_025207.5(FLAD1):c.796del (p.Glu266fs)not provided [RCV002853180]pathogenic1154988527154988527Humanname
155949463CV2104729single nucleotide variantNM_025207.5(FLAD1):c.130C>T (p.Leu44Phe)not provided [RCV002904981]uncertain significance1154983824154983824Humanname
156249274CV2119895single nucleotide variantNM_025207.5(FLAD1):c.1632C>T (p.Tyr544=)not provided [RCV002959149]likely benign1154992905154992905Humanname
156013900CV2121259single nucleotide variantNM_025207.5(FLAD1):c.1359C>A (p.Ile453=)not provided [RCV002948428]likely benign1154990252154990252Humanname
156301412CV2129514single nucleotide variantNM_025207.5(FLAD1):c.275G>C (p.Gly92Ala)not provided [RCV002962160]uncertain significance1154983969154983969Humanname
156312257CV2143743single nucleotide variantNM_025207.5(FLAD1):c.1518A>G (p.Pro506=)not provided [RCV003011182]likely benign1154990492154990492Humanname
156267841CV2167830single nucleotide variantNM_025207.5(FLAD1):c.1581T>C (p.Asp527=)not provided [RCV003026880]likely benign1154992739154992739Humanname
11345085CV226510deletionNM_025207.5(FLAD1):c.324del (p.Arg109fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223942]pathogenic1154984015154984015Human1name
11345087CV226512deletionNM_025207.5(FLAD1):c.498del (p.Ser167fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223946]pathogenic1154988230154988230Human1name
11350543CV226516deletionNM_025207.5(FLAD1):c.836del (p.Phe279fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223939]|Myopathy with abnormal lipid metabolism [RCV000234842]pathogenic1154988567154988567Human2name
329356481CV2460353single nucleotide variantNM_025207.5(FLAD1):c.254A>G (p.Tyr85Cys)Inborn genetic diseases [RCV003203300]uncertain significance1154983948154983948Human1name
401769579CV2731432single nucleotide variantNM_025207.5(FLAD1):c.128G>A (p.Cys43Tyr)Inborn genetic diseases [RCV003283754]uncertain significance1154983822154983822Human1name
405118920CV2955922duplicationNM_025207.5(FLAD1):c.390dup (p.Asn131fs)not provided [RCV003671252]pathogenic1154988120154988121Humanname
405193930CV2975173single nucleotide variantNM_025207.5(FLAD1):c.1587G>A (p.Leu529=)not provided [RCV003677464]likely benign1154992745154992745Humanname
405252891CV3044095single nucleotide variantNM_025207.5(FLAD1):c.1173G>A (p.Leu391=)not provided [RCV003722349]likely benign1154989615154989615Humanname
405210256CV3062268single nucleotide variantNM_025207.5(FLAD1):c.1014C>T (p.Cys338=)not provided [RCV003731904]likely benign1154988746154988746Humanname
404977075CV3117478single nucleotide variantNM_025207.5(FLAD1):c.1329T>C (p.Pro443=)not provided [RCV003825250]likely benign1154990222154990222Humanname
405163463CV3125254single nucleotide variantNM_025207.5(FLAD1):c.1734C>T (p.Asn578=)not provided [RCV003818526]likely benign1154993007154993007Humanname
405125130CV3126413single nucleotide variantNM_025207.5(FLAD1):c.1527C>G (p.Pro509=)not provided [RCV003815165]likely benign1154990501154990501Humanname
405029139CV3129882single nucleotide variantNM_025207.5(FLAD1):c.1551G>A (p.Leu517=)not provided [RCV003830480]likely benign1154990525154990525Humanname
405142070CV3131233single nucleotide variantNM_025207.5(FLAD1):c.1761A>G (p.Thr587=)not provided [RCV003839273]likely benign1154993034154993034Humanname
405150861CV3162899deletionNM_025207.5(FLAD1):c.811del (p.Leu271fs)not provided [RCV003856342]pathogenic1154988543154988543Humanname
405151344CV3162934single nucleotide variantNM_025207.5(FLAD1):c.1131G>A (p.Gly377=)not provided [RCV003856377]likely benign1154989573154989573Humanname
405133486CV3163898single nucleotide variantNM_025207.5(FLAD1):c.1509C>T (p.Pro503=)not provided [RCV003854886]likely benign1154990483154990483Humanname
405081915CV3167083single nucleotide variantNM_025207.5(FLAD1):c.1126T>C (p.Leu376=)not provided [RCV003851662]likely benign1154989568154989568Humanname
402499324CV3170412single nucleotide variantNM_025207.5(FLAD1):c.1677G>A (p.Leu559=)not provided [RCV003877784]likely benign1154992950154992950Humanname
408384364CV3526907single nucleotide variantNM_025207.5(FLAD1):c.270G>C (p.Gln90His)not provided [RCV004772220]uncertain significance1154983964154983964Humanname
12835777CV364471single nucleotide variantNM_025207.5(FLAD1):c.1566C>T (p.Tyr522=)not provided [RCV001721429]likely benign1154992724154992724Humanname
12838751CV364516single nucleotide variantNM_025207.5(FLAD1):c.1119G>A (p.Gly373=)not provided [RCV000967807]benign|likely benign|conflicting interpretations of pathogenicity1154989561154989561Humanname
12834227CV364517single nucleotide variantNM_025207.5(FLAD1):c.1167C>T (p.Thr389=)not specified [RCV000420002]likely benign1154989609154989609Humanname
597956126CV3809496single nucleotide variantNM_025207.5(FLAD1):c.155C>A (p.Ser52Ter)not provided [RCV005162221]uncertain significance1154983849154983849Humanname
597972348CV3812925single nucleotide variantNM_025207.5(FLAD1):c.1110T>C (p.Ala370=)not provided [RCV005167378]likely benign1154988842154988842Humanname
597925172CV3863433single nucleotide variantNM_025207.5(FLAD1):c.245T>C (p.Leu82Pro)not provided [RCV005205758]uncertain significance1154983939154983939Humanname
598201018CV3976821single nucleotide variantNM_025207.5(FLAD1):c.268C>G (p.Gln90Glu)Inborn genetic diseases [RCV005336758]uncertain significance1154983962154983962Human1name
13527195CV498054single nucleotide variantNM_025207.5(FLAD1):c.1212C>T (p.Asn404=)not provided [RCV000910167]|not specified [RCV000599660]likely benign1154989654154989654Humanname
15142156CV731757single nucleotide variantNM_025207.5(FLAD1):c.1599T>C (p.Phe533=)not provided [RCV000899622]likely benign1154992757154992757Humanname
15113316CV745717single nucleotide variantNM_025207.5(FLAD1):c.1023C>T (p.Tyr341=)not provided [RCV000917070]likely benign1154988755154988755Humanname
15098827CV745718single nucleotide variantNM_025207.5(FLAD1):c.1071C>T (p.Asn357=)not provided [RCV000914338]likely benign1154988803154988803Humanname
15172231CV761239single nucleotide variantNM_025207.5(FLAD1):c.1150C>T (p.Leu384=)not provided [RCV000928068]likely benign1154989592154989592Humanname
15104933CV761240single nucleotide variantNM_025207.5(FLAD1):c.1575C>A (p.Ile525=)FLAD1-related disorder [RCV003925824]|not provided [RCV000937488]benign|likely benign1154992733154992733Human1name , trait , alternate_id
15185149CV761241single nucleotide variantNM_025207.5(FLAD1):c.1614C>T (p.Ile538=)not provided [RCV000930980]likely benign1154992772154992772Humanname
150404762CV1175758single nucleotide variantNM_025207.5(FLAD1):c.708C>A (p.Cys236Ter)not provided [RCV001544567]likely pathogenic1154988440154988440Humanname
150414233CV1196481deletionNM_025207.5(FLAD1):c.1118-163_1118-162delnot provided [RCV001574870]likely benign1154989397154989398Humanname
150465600CV1201103single nucleotide variantNM_025207.5(FLAD1):c.683G>A (p.Arg228His)Myopathy with abnormal lipid metabolism [RCV003146220]|not provided [RCV001587583]likely benign|uncertain significance1154988415154988415Human1name
150464567CV1241322duplicationNM_025207.5(FLAD1):c.1555-259_1555-256dupnot provided [RCV001649833]benign1154992453154992454Humanname
150549458CV1299461single nucleotide variantNM_025207.5(FLAD1):c.580G>T (p.Ala194Ser)not provided [RCV001752387]uncertain significance1154988312154988312Humanname
150550009CV1299776single nucleotide variantNM_025207.5(FLAD1):c.917G>A (p.Arg306His)not provided [RCV001752702]uncertain significance1154988649154988649Humanname
150540554CV1314679duplicationNM_025207.5(FLAD1):c.1356dup (p.Ile453fs)Myopathy with abnormal lipid metabolism [RCV001781112]likely pathogenic1154990248154990249Humanname
151232835CV1316910single nucleotide variantNM_025207.5(FLAD1):c.445G>A (p.Val149Ile)Inborn genetic diseases [RCV004040823]|not provided [RCV001786730]uncertain significance1154988177154988177Human1name
151781121CV1341844single nucleotide variantNM_025207.5(FLAD1):c.356G>A (p.Gly119Glu)not provided [RCV001897248]uncertain significance1154984050154984050Humanname
151780784CV1357677single nucleotide variantNM_025207.5(FLAD1):c.931G>C (p.Gly311Arg)not provided [RCV001875336]uncertain significance1154988663154988663Humanname
151843484CV1408767single nucleotide variantNM_025207.5(FLAD1):c.803T>G (p.Met268Arg)Inborn genetic diseases [RCV002642107]|Myopathy with abnormal lipid metabolism [RCV005232768]|not provided [RCV002015622]uncertain significance1154988535154988535Human2name
151839726CV1415268single nucleotide variantNM_025207.5(FLAD1):c.977C>A (p.Thr326Asn)Inborn genetic diseases [RCV005343159]|not provided [RCV001921387]uncertain significance1154988709154988709Human1name
151887436CV1471983single nucleotide variantNM_025207.5(FLAD1):c.751G>A (p.Val251Ile)not provided [RCV002000881]uncertain significance1154988483154988483Humanname
151808888CV1476329single nucleotide variantNM_025207.5(FLAD1):c.363G>T (p.Glu121Asp)Inborn genetic diseases [RCV002548030]|not provided [RCV001899754]uncertain significance1154984057154984057Human1name
151884150CV1476833single nucleotide variantNM_025207.5(FLAD1):c.347T>C (p.Ile116Thr)Inborn genetic diseases [RCV002553537]|not provided [RCV001887088]uncertain significance1154984041154984041Human1name
151794313CV1482708single nucleotide variantNM_025207.5(FLAD1):c.410G>A (p.Arg137Gln)not provided [RCV002047397]uncertain significance1154988142154988142Humanname
151881319CV1499846single nucleotide variantNM_025207.5(FLAD1):c.797A>G (p.Glu266Gly)not provided [RCV001886522]uncertain significance1154988529154988529Humanname
152105868CV1609554single nucleotide variantNM_025207.5(FLAD1):c.785G>A (p.Arg262Gln)not provided [RCV002115926]benign1154988517154988517Humanname
152161685CV1619505single nucleotide variantNM_025207.5(FLAD1):c.503A>T (p.Asn168Ile)not provided [RCV002159752]likely benign|conflicting interpretations of pathogenicity1154988235154988235Humanname
152074891CV1652834single nucleotide variantNM_025207.5(FLAD1):c.443G>A (p.Arg148Gln)not provided [RCV002148568]likely benign|conflicting interpretations of pathogenicity1154988175154988175Humanname
153349842CV1693160single nucleotide variantNM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)not provided [RCV002276273]conflicting interpretations of pathogenicity|uncertain significance1154988235154988235Humanname
155749357CV1775610single nucleotide variantNM_025207.5(FLAD1):c.893C>T (p.Ala298Val)not provided [RCV002304564]uncertain significance1154988625154988625Humanname
155998859CV1872653single nucleotide variantNM_025207.5(FLAD1):c.416T>C (p.Leu139Pro)not provided [RCV003076482]uncertain significance1154988148154988148Humanname
156404868CV1883573single nucleotide variantNM_025207.5(FLAD1):c.880G>A (p.Ala294Thr)not provided [RCV003069848]uncertain significance1154988612154988612Humanname
156376634CV1896109single nucleotide variantNM_025207.5(FLAD1):c.320C>T (p.Pro107Leu)Inborn genetic diseases [RCV005333489]|not provided [RCV003092928]uncertain significance1154984014154984014Human1name
155953523CV1896509single nucleotide variantNM_025207.5(FLAD1):c.809G>A (p.Gly270Glu)not provided [RCV003095460]uncertain significance1154988541154988541Humanname
156366470CV1908529single nucleotide variantNM_025207.5(FLAD1):c.776A>G (p.Glu259Gly)not provided [RCV002582098]uncertain significance1154988508154988508Humanname
156304798CV1916360single nucleotide variantNM_025207.5(FLAD1):c.682C>T (p.Arg228Cys)not provided [RCV002599347]uncertain significance1154988414154988414Humanname
156438803CV1943353single nucleotide variantNM_025207.5(FLAD1):c.313C>T (p.Leu105Phe)not provided [RCV003108750]uncertain significance1154984007154984007Humanname
156093456CV1960102single nucleotide variantNM_025207.5(FLAD1):c.506G>A (p.Arg169His)Inborn genetic diseases [RCV002582741]|not provided [RCV002570307]uncertain significance1154988238154988238Human1name
155996436CV1986923single nucleotide variantNM_025207.5(FLAD1):c.916C>T (p.Arg306Cys)Inborn genetic diseases [RCV004973514]|not provided [RCV002618252]uncertain significance1154988648154988648Human1name
156401202CV1992030single nucleotide variantNM_025207.5(FLAD1):c.538G>A (p.Gly180Ser)not provided [RCV002605622]uncertain significance1154988270154988270Humanname
156232820CV1999440single nucleotide variantNM_025207.5(FLAD1):c.940C>A (p.Pro314Thr)not provided [RCV002667646]uncertain significance1154988672154988672Humanname
156364507CV2003467single nucleotide variantNM_025207.5(FLAD1):c.689A>C (p.His230Pro)Inborn genetic diseases [RCV004066863]|not provided [RCV002676466]uncertain significance1154988421154988421Human1name
156280768CV2005238single nucleotide variantNM_025207.5(FLAD1):c.982G>T (p.Asp328Tyr)not provided [RCV002646835]uncertain significance1154988714154988714Humanname
156352378CV2015371single nucleotide variantNM_025207.5(FLAD1):c.532G>A (p.Gly178Ser)not provided [RCV002720277]uncertain significance1154988264154988264Humanname
155943164CV2039342single nucleotide variantNM_025207.5(FLAD1):c.742G>A (p.Val248Ile)Inborn genetic diseases [RCV004973618]|not provided [RCV002775327]uncertain significance1154988474154988474Human1name
156095261CV2050833single nucleotide variantNM_025207.5(FLAD1):c.362A>T (p.Glu121Val)not provided [RCV002824343]uncertain significance1154984056154984056Humanname
156120233CV2128491deletionNM_025207.5(FLAD1):c.1475del (p.Asp492fs)not provided [RCV002953468]pathogenic1154990449154990449Humanname
156029739CV2135404single nucleotide variantNM_025207.5(FLAD1):c.712G>A (p.Gly238Ser)not provided [RCV002999089]uncertain significance1154988444154988444Humanname
156031639CV2142080single nucleotide variantNM_025207.5(FLAD1):c.775G>A (p.Glu259Lys)not provided [RCV002976631]uncertain significance1154988507154988507Humanname
156038133CV2143308single nucleotide variantNM_025207.5(FLAD1):c.451G>C (p.Val151Leu)not provided [RCV002999412]uncertain significance1154988183154988183Humanname
155960127CV2204090single nucleotide variantNM_025207.5(FLAD1):c.308C>T (p.Ser103Phe)Inborn genetic diseases [RCV002686533]uncertain significance1154984002154984002Human1name
156162381CV2246511single nucleotide variantNM_025207.5(FLAD1):c.308C>G (p.Ser103Cys)Inborn genetic diseases [RCV002787569]uncertain significance1154984002154984002Human1name
11345037CV226513single nucleotide variantNM_025207.5(FLAD1):c.508T>C (p.Phe170Leu)Multiple acyl-CoA dehydrogenase deficiency [RCV000223950]likely benign1154988240154988240Human1name
155996615CV2277423single nucleotide variantNM_025207.5(FLAD1):c.299C>T (p.Ser100Phe)Inborn genetic diseases [RCV002864973]uncertain significance1154983993154983993Human1name
156171625CV2312594single nucleotide variantNM_025207.5(FLAD1):c.703C>G (p.Pro235Ala)Inborn genetic diseases [RCV002916588]uncertain significance1154988435154988435Human1name
329847647CV2524394single nucleotide variantNM_025207.5(FLAD1):c.788G>A (p.Arg263Gln)not provided [RCV003227286]uncertain significance1154988520154988520Humanname
401762251CV2723373single nucleotide variantNM_025207.5(FLAD1):c.823C>T (p.Pro275Ser)Inborn genetic diseases [RCV003300137]uncertain significance1154988555154988555Human1name
405780566CV3260766single nucleotide variantNM_025207.5(FLAD1):c.353T>A (p.Val118Asp)Inborn genetic diseases [RCV004386701]uncertain significance1154984047154984047Human1name
405780572CV3260767single nucleotide variantNM_025207.5(FLAD1):c.419G>A (p.Arg140His)Inborn genetic diseases [RCV004386702]uncertain significance1154988151154988151Human1name
405780579CV3260768single nucleotide variantNM_025207.5(FLAD1):c.452T>C (p.Val151Ala)Inborn genetic diseases [RCV004386703]uncertain significance1154988184154988184Human1name
405780586CV3260769single nucleotide variantNM_025207.5(FLAD1):c.713G>A (p.Gly238Asp)Inborn genetic diseases [RCV004386704]uncertain significance1154988445154988445Human1name
405780598CV3260771single nucleotide variantNM_025207.5(FLAD1):c.897G>T (p.Glu299Asp)Inborn genetic diseases [RCV004386706]uncertain significance1154988629154988629Human1name
405780603CV3260772single nucleotide variantNM_025207.5(FLAD1):c.926G>A (p.Gly309Asp)Inborn genetic diseases [RCV004386707]uncertain significance1154988658154988658Human1name
407502951CV3435996single nucleotide variantNM_025207.5(FLAD1):c.746G>A (p.Arg249Gln)Inborn genetic diseases [RCV004623640]|not provided [RCV004791699]uncertain significance1154988478154988478Human1name
408389434CV3524580single nucleotide variantNM_025207.5(FLAD1):c.844A>G (p.Lys282Glu)not provided [RCV004769475]uncertain significance1154988576154988576Humanname
596931285CV3531620single nucleotide variantNM_025207.5(FLAD1):c.853T>C (p.Tyr285His)not provided [RCV004781182]uncertain significance1154988585154988585Humanname
596932469CV3539089single nucleotide variantNM_025207.5(FLAD1):c.784C>T (p.Arg262Trp)not provided [RCV004793215]uncertain significance1154988516154988516Humanname
596928458CV3541498single nucleotide variantNM_025207.5(FLAD1):c.442C>T (p.Arg148Ter)Myopathy with abnormal lipid metabolism [RCV004797370]pathogenic1154988174154988174Human1name
12742645CV359254single nucleotide variantNM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)Myopathy with abnormal lipid metabolism [RCV001542550]|not provided [RCV000414135]pathogenic1154988140154988140Human1name
597653960CV3666325single nucleotide variantNM_025207.5(FLAD1):c.755A>G (p.Tyr252Cys)Inborn genetic diseases [RCV004975130]uncertain significance1154988487154988487Human1name
597944356CV3776574single nucleotide variantNM_025207.5(FLAD1):c.380C>G (p.Thr127Ser)not provided [RCV005119430]uncertain significance1154988112154988112Humanname
597862309CV3822643single nucleotide variantNM_025207.5(FLAD1):c.709A>G (p.Thr237Ala)not provided [RCV005175174]uncertain significance1154988441154988441Humanname
597947332CV3841907single nucleotide variantNM_025207.5(FLAD1):c.524C>T (p.Thr175Ile)not provided [RCV005189341]uncertain significance1154988256154988256Humanname
597965166CV3848277single nucleotide variantNM_025207.5(FLAD1):c.922C>T (p.Leu308Phe)not provided [RCV005194157]uncertain significance1154988654154988654Humanname
598129249CV3888543single nucleotide variantNM_025207.5(FLAD1):c.647G>A (p.Gly216Asp)not provided [RCV005244717]uncertain significance1154988379154988379Humanname
598201021CV3976822single nucleotide variantNM_025207.5(FLAD1):c.409C>T (p.Arg137Trp)Inborn genetic diseases [RCV005336759]uncertain significance1154988141154988141Human1name
15145517CV731755single nucleotide variantNM_025207.5(FLAD1):c.640G>A (p.Gly214Arg)FLAD1-related disorder [RCV003912855]|not provided [RCV000900174]likely benign1154988372154988372Human1name , trait , alternate_id
15170810CV731756single nucleotide variantNM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)FLAD1-related disorder [RCV003932899]|not provided [RCV000905338]likely benign|conflicting interpretations of pathogenicity1154988519154988519Human1name , trait , alternate_id
21070479CV789852single nucleotide variantNM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)Multiple acyl-CoA dehydrogenase deficiency [RCV000986423]|Myopathy with abnormal lipid metabolism [RCV004689943]|not provided [RCV001382523]pathogenic1154988477154988477Human2name
126729827CV1019181single nucleotide variantNM_025207.5(FLAD1):c.1762T>C (p.Ter588Arg)Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency [RCV001333257]pathogenic1154993035154993035Humanname
8574914CV109253single nucleotide variantNM_001184891.1(FLAD1):c.733C>T (p.Leu245=)Lung cancer [RCV000089778]uncertain significance1154988756154988756Humanname
150520320CV1289533single nucleotide variantNM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser)Myopathy with abnormal lipid metabolism [RCV001728178]|not provided [RCV002539782]uncertain significance1154992768154992768Human1name
150545524CV1293837single nucleotide variantNM_025207.5(FLAD1):c.1157C>T (p.Thr386Ile)not provided [RCV001763018]uncertain significance1154989599154989599Humanname
151787908CV1386834single nucleotide variantNM_025207.5(FLAD1):c.1589G>A (p.Arg530His)not provided [RCV001931112]|not specified [RCV004690175]uncertain significance1154992747154992747Humanname
151765483CV1393728single nucleotide variantNM_025207.5(FLAD1):c.1468C>T (p.Arg490Trp)Inborn genetic diseases [RCV002579637]|not provided [RCV002008335]uncertain significance1154990442154990442Human1name
151738774CV1397743single nucleotide variantNM_025207.5(FLAD1):c.1049C>T (p.Ser350Leu)Inborn genetic diseases [RCV003250339]|not provided [RCV001985029]uncertain significance1154988781154988781Human1name
151892813CV1399076single nucleotide variantNM_025207.5(FLAD1):c.1649G>A (p.Arg550Gln)Inborn genetic diseases [RCV003365483]|not provided [RCV001944507]uncertain significance1154992922154992922Human1name
151774542CV1413448single nucleotide variantNM_025207.5(FLAD1):c.1189A>G (p.Thr397Ala)not provided [RCV001971505]uncertain significance1154989631154989631Humanname
151880601CV1421480single nucleotide variantNM_025207.5(FLAD1):c.1664G>A (p.Arg555Gln)Inborn genetic diseases [RCV002552803]|not provided [RCV001886423]likely benign|uncertain significance1154992937154992937Human1name
151721609CV1421791single nucleotide variantNM_025207.5(FLAD1):c.1033C>T (p.Arg345Cys)Inborn genetic diseases [RCV002555714]|not provided [RCV001909819]|not specified [RCV004690168]uncertain significance1154988765154988765Human1name
151831934CV1439077single nucleotide variantNM_025207.5(FLAD1):c.1220A>T (p.Lys407Ile)not provided [RCV001976734]uncertain significance1154989662154989662Humanname
151781807CV1446416single nucleotide variantNM_025207.5(FLAD1):c.1213G>A (p.Gly405Arg)not provided [RCV001989207]uncertain significance1154989655154989655Humanname
151741872CV1470143single nucleotide variantNM_025207.5(FLAD1):c.1054G>A (p.Val352Ile)not provided [RCV001871095]uncertain significance1154988786154988786Humanname
152155675CV1620561single nucleotide variantNM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys)not provided [RCV002122379]likely benign|conflicting interpretations of pathogenicity1154990202154990202Humanname
152079792CV1620613single nucleotide variantNM_025207.5(FLAD1):c.1495T>C (p.Cys499Arg)not provided [RCV002112591]likely benign1154990469154990469Humanname
155741368CV1779971single nucleotide variantNM_025207.5(FLAD1):c.1711C>T (p.Arg571Cys)not specified [RCV002302575]uncertain significance1154992984154992984Humanname
155984097CV1897075single nucleotide variantNM_025207.5(FLAD1):c.1469G>A (p.Arg490Gln)Inborn genetic diseases [RCV003097523]|not provided [RCV003087262]uncertain significance1154990443154990443Human1name
156086071CV1898974single nucleotide variantNM_025207.5(FLAD1):c.1186C>T (p.Leu396Phe)Inborn genetic diseases [RCV003080041]|not provided [RCV003080042]uncertain significance1154989628154989628Human1name
156074491CV1904090single nucleotide variantNM_025207.5(FLAD1):c.1229C>G (p.Thr410Ser)not provided [RCV002591374]uncertain significance1154989671154989671Humanname
155930576CV1908988single nucleotide variantNM_025207.5(FLAD1):c.1712G>A (p.Arg571His)Inborn genetic diseases [RCV002591601]|not provided [RCV002614972]uncertain significance1154992985154992985Human1name
156418818CV1918807single nucleotide variantNM_025207.5(FLAD1):c.1646G>A (p.Ser549Asn)not provided [RCV002612028]uncertain significance1154992919154992919Humanname
155952522CV1922048single nucleotide variantNM_025207.5(FLAD1):c.1441C>A (p.Leu481Met)not provided [RCV002616300]uncertain significance1154990415154990415Humanname
156436128CV1937384single nucleotide variantNM_025207.5(FLAD1):c.1000C>G (p.Pro334Ala)not provided [RCV003105212]uncertain significance1154988732154988732Humanname
156085661CV1953142single nucleotide variantNM_025207.5(FLAD1):c.1748G>A (p.Arg583Gln)FLAD1-related disorder [RCV003395488]|not provided [RCV002570052]uncertain significance1154993021154993021Human1name , trait , alternate_id
156354413CV1962270single nucleotide variantNM_025207.5(FLAD1):c.1348C>G (p.Gln450Glu)not provided [RCV002581290]uncertain significance1154990241154990241Humanname
156393557CV1962510single nucleotide variantNM_025207.5(FLAD1):c.1174G>T (p.Ala392Ser)not provided [RCV002584117]uncertain significance1154989616154989616Humanname
156109096CV1963588single nucleotide variantNM_025207.5(FLAD1):c.1660G>A (p.Val554Met)Inborn genetic diseases [RCV002571131]|not provided [RCV002585881]uncertain significance1154992933154992933Human1name
156223347CV1965637single nucleotide variantNM_025207.5(FLAD1):c.1364G>A (p.Arg455Lys)not provided [RCV002596541]uncertain significance1154990257154990257Humanname
156164873CV1971441single nucleotide variantNM_025207.5(FLAD1):c.1430G>A (p.Arg477Gln)not provided [RCV002594592]uncertain significance1154990404154990404Humanname
156413840CV1979153single nucleotide variantNM_025207.5(FLAD1):c.1339C>T (p.Gln447Ter)not provided [RCV002608960]pathogenic1154990232154990232Humanname
156326514CV1982095single nucleotide variantNM_025207.5(FLAD1):c.1034G>A (p.Arg345His)not provided [RCV002649587]uncertain significance1154988766154988766Humanname
156091529CV1984107single nucleotide variantNM_025207.5(FLAD1):c.1408G>A (p.Ala470Thr)not provided [RCV002621876]uncertain significance1154990382154990382Humanname
156321619CV1992015single nucleotide variantNM_025207.5(FLAD1):c.1436C>T (p.Pro479Leu)not provided [RCV002649283]uncertain significance1154990410154990410Humanname
156044332CV1999172single nucleotide variantNM_025207.5(FLAD1):c.1440G>C (p.Gln480His)not provided [RCV002659155]uncertain significance1154990414154990414Humanname
156370878CV2007733single nucleotide variantNM_025207.5(FLAD1):c.1274C>G (p.Pro425Arg)not provided [RCV002676887]uncertain significance1154990167154990167Humanname
156397212CV2012545single nucleotide variantNM_025207.5(FLAD1):c.1365G>T (p.Arg455Ser)not provided [RCV002725682]uncertain significance1154990339154990339Humanname
156215821CV2076767single nucleotide variantNM_025207.5(FLAD1):c.1463C>T (p.Thr488Ile)not provided [RCV002875670]uncertain significance1154990437154990437Humanname
156157517CV2142585single nucleotide variantNM_025207.5(FLAD1):c.1253C>T (p.Ala418Val)not provided [RCV002982874]uncertain significance1154989695154989695Humanname
155919546CV2148793single nucleotide variantNM_025207.5(FLAD1):c.1393G>A (p.Gly465Ser)not provided [RCV002991831]uncertain significance1154990367154990367Humanname
155933392CV2153236single nucleotide variantNM_025207.5(FLAD1):c.1349A>G (p.Gln450Arg)not provided [RCV003013766]uncertain significance1154990242154990242Humanname
156130988CV2169136single nucleotide variantNM_025207.5(FLAD1):c.1528G>C (p.Ala510Pro)not provided [RCV003022176]uncertain significance1154990502154990502Humanname
156030463CV2182077single nucleotide variantNM_025207.5(FLAD1):c.1250A>T (p.His417Leu)not provided [RCV003036162]uncertain significance1154989692154989692Humanname
155927350CV2230771single nucleotide variantNM_025207.5(FLAD1):c.1463C>G (p.Thr488Ser)Inborn genetic diseases [RCV002728271]uncertain significance1154990437154990437Human1name
11350548CV226518single nucleotide variantNM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)FLAD1-related disorder [RCV003407734]|Multiple acyl-CoA dehydrogenase deficiency [RCV000223948]|Myopathy with abnormal lipid metabolism [RCV000234835]|not provided [RCV000521126]pathogenic|likely pathogenic1154992746154992746Human2name , trait , alternate_id
156155150CV2328731single nucleotide variantNM_025207.5(FLAD1):c.1357A>T (p.Ile453Phe)Inborn genetic diseases [RCV002954899]uncertain significance1154990250154990250Human1name
329364330CV2447363single nucleotide variantNM_025207.5(FLAD1):c.1292T>C (p.Leu431Pro)Inborn genetic diseases [RCV003206689]uncertain significance1154990185154990185Human1name
329368626CV2450385single nucleotide variantNM_025207.5(FLAD1):c.1084G>T (p.Ala362Ser)Inborn genetic diseases [RCV003208777]uncertain significance1154988816154988816Human1name
329352671CV2470298single nucleotide variantNM_025207.5(FLAD1):c.1309C>G (p.Arg437Gly)Inborn genetic diseases [RCV003200679]uncertain significance1154990202154990202Human1name
401746512CV2731832single nucleotide variantNM_025207.5(FLAD1):c.1232C>T (p.Ala411Val)Inborn genetic diseases [RCV003293776]uncertain significance1154989674154989674Human1name
405084280CV2865775single nucleotide variantNM_025207.5(FLAD1):c.1003C>A (p.Leu335Met)not provided [RCV003549456]uncertain significance1154988735154988735Humanname
405042901CV3007709single nucleotide variantNM_025207.5(FLAD1):c.1224C>G (p.Asp408Glu)not provided [RCV003696459]uncertain significance1154989666154989666Humanname
405167620CV3059727single nucleotide variantNM_025207.5(FLAD1):c.1228A>G (p.Thr410Ala)not provided [RCV003727498]uncertain significance1154989670154989670Humanname
405132548CV3130104single nucleotide variantNM_025207.5(FLAD1):c.1538G>A (p.Arg513His)not provided [RCV003838527]uncertain significance1154990512154990512Humanname
405780549CV3260763single nucleotide variantNM_025207.5(FLAD1):c.1387G>A (p.Ala463Thr)Inborn genetic diseases [RCV004386698]uncertain significance1154990361154990361Human1name
405780555CV3260764single nucleotide variantNM_025207.5(FLAD1):c.1456A>G (p.Met486Val)Inborn genetic diseases [RCV004386699]uncertain significance1154990430154990430Human1name
405780561CV3260765single nucleotide variantNM_025207.5(FLAD1):c.1670C>T (p.Pro557Leu)Inborn genetic diseases [RCV004386700]uncertain significance1154992943154992943Human1name
407502961CV3435999single nucleotide variantNM_025207.5(FLAD1):c.1274C>A (p.Pro425His)Inborn genetic diseases [RCV004623643]uncertain significance1154990167154990167Human1name
407502964CV3436000single nucleotide variantNM_025207.5(FLAD1):c.1504A>C (p.Ser502Arg)Inborn genetic diseases [RCV004623644]uncertain significance1154990478154990478Human1name
408389413CV3529382single nucleotide variantNM_025207.5(FLAD1):c.1619A>G (p.Tyr540Cys)not provided [RCV004774204]uncertain significance1154992777154992777Humanname
596943271CV3542859single nucleotide variantNM_025207.5(FLAD1):c.1229C>A (p.Thr410Asn)not provided [RCV004798443]uncertain significance1154989671154989671Humanname
597653971CV3666327single nucleotide variantNM_025207.5(FLAD1):c.1376A>G (p.Gln459Arg)Inborn genetic diseases [RCV004975132]uncertain significance1154990350154990350Human1name
597924919CV3748544single nucleotide variantNM_025207.5(FLAD1):c.1737A>C (p.Glu579Asp)not provided [RCV005075192]uncertain significance1154993010154993010Humanname
597928900CV3749193single nucleotide variantNM_025207.5(FLAD1):c.1537C>T (p.Arg513Cys)not provided [RCV005075649]uncertain significance1154990511154990511Humanname
597949175CV3759279single nucleotide variantNM_025207.5(FLAD1):c.1090G>T (p.Glu364Ter)not provided [RCV005079076]pathogenic1154988822154988822Humanname
597955287CV3796196single nucleotide variantNM_025207.5(FLAD1):c.1568G>C (p.Arg523Thr)not provided [RCV005137013]uncertain significance1154992726154992726Humanname
597868907CV3858385single nucleotide variantNM_025207.5(FLAD1):c.1375C>T (p.Gln459Ter)not provided [RCV005197128]pathogenic1154990349154990349Humanname
597887776CV3859382single nucleotide variantNM_025207.5(FLAD1):c.1211A>G (p.Asn404Ser)not provided [RCV005200038]uncertain significance1154989653154989653Humanname
598201027CV3976823single nucleotide variantNM_025207.5(FLAD1):c.1418A>T (p.Glu473Val)Inborn genetic diseases [RCV005336760]uncertain significance1154990392154990392Human1name
13529785CV498044single nucleotide variantNM_025207.5(FLAD1):c.1184G>A (p.Ser395Asn)not provided [RCV000896315]benign|likely benign1154989626154989626Humanname
15165348CV696135single nucleotide variantNM_025207.5(FLAD1):c.1738G>A (p.Glu580Lys)not provided [RCV000948566]likely benign1154993011154993011Humanname
15196986CV745719single nucleotide variantNM_025207.5(FLAD1):c.1310G>A (p.Arg437His)not provided [RCV000911851]likely benign1154990203154990203Humanname
8624715CV79829single nucleotide variantNM_001184891.1(FLAD1):c.880C>T (p.Leu294=)Malignant melanoma [RCV000059905]not provided1154989613154989613Humanname
11350549CV226511microsatelliteNM_025207.5(FLAD1):c.401_404del (p.Phe134fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223949]|Myopathy with abnormal lipid metabolism [RCV000234837]pathogenic1154988129154988132Humanname
11350546CV226515duplicationNM_025207.5(FLAD1):c.568_569dup (p.Val191fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223944]|Myopathy with abnormal lipid metabolism [RCV000234839]pathogenic1154988299154988300Human2name
597720912CV3733610deletionNM_025207.5(FLAD1):c.512_528del (p.Thr171fs)Myopathy with abnormal lipid metabolism [RCV005052915]likely pathogenic1154988242154988258Human1name
156444260CV1937787microsatelliteNM_025207.5(FLAD1):c.1121CTT[1] (p.Ser375del)not provided [RCV003115183]uncertain significance1154989562154989564Humanname
156262590CV2053818deletionNM_025207.5(FLAD1):c.356_358del (p.Gly119del)not provided [RCV002792067]uncertain significance1154984049154984051Humanname
405240351CV3166149insertionNM_025207.5(FLAD1):c.987_988insC (p.Glu330fs)not provided [RCV003867161]pathogenic1154988719154988720Humanname
25318429CV805176deletionNM_025207.5(FLAD1):c.1054_1075del (p.Val352fs)not provided [RCV001008609]likely pathogenic1154988781154988802Humanname
11350544CV226517deletionNM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)Multiple acyl-CoA dehydrogenase deficiency [RCV000223940]|Myopathy with abnormal lipid metabolism [RCV000234840]pathogenic1154990456154990458Human2name
11350547CV226514indelNM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)Multiple acyl-CoA dehydrogenase deficiency [RCV000223945]|Myopathy with abnormal lipid metabolism [RCV000234836]pathogenic1154988258154988269Humanname
25317497CV805177deletionNM_025207.5(FLAD1):c.1389_1398del (p.Ala463_Glu464insTer)not provided [RCV001008054]likely pathogenic1154990360154990369Humanname