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170 records found for search term Fyb
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8631626CV86830single nucleotide variantNM_001243093.1(FYB):c.2232G>A (p.Gln744=)Malignant melanoma [RCV000066921]not provided53911957139119571Humanname
8631625CV86829single nucleotide variantNM_001243093.1(FYB):c.2233G>A (p.Glu745Lys)Malignant melanoma [RCV000066920]not provided53911957039119570Humanname
408367397CV3511817single nucleotide variantNM_001465.6(FYB1):c.-15G>CFYB1-related disorder [RCV004758428]likely benign53920297539202975Humanname , trait , alternate_id
150335200CV1171425single nucleotide variantNM_001465.6(FYB1):c.*192A>Tnot provided [RCV001540454]benign53910725139107251Humanname
405293314CV3207383single nucleotide variantNM_001465.6(FYB1):c.1516-5T>CFYB1-related disorder [RCV003931765]likely benign53913501939135019Humanname , trait , alternate_id
15099625CV777499single nucleotide variantNM_001465.6(FYB1):c.1135+8C>Anot provided [RCV000958789]|not specified [RCV003151238]benign|likely benign53920181839201818Humanname
150469862CV1219144single nucleotide variantNM_001465.6(FYB1):c.2467+24T>Cnot provided [RCV001614896]benign53910820739108207Humanname
150499762CV1224650single nucleotide variantNM_001465.6(FYB1):c.1292+21C>Tnot provided [RCV001620481]benign53915342739153427Humanname
150508141CV1244751single nucleotide variantNM_001465.6(FYB1):c.1841-51C>Gnot provided [RCV001659000]benign53912785839127858Humanname
150483064CV1245048single nucleotide variantNM_001465.6(FYB1):c.2238+76A>Gnot provided [RCV001653225]benign53911945939119459Humanname
150483404CV1247615single nucleotide variantNM_001465.6(FYB1):c.2435+44T>Anot provided [RCV001673441]benign53911031239110312Humanname
150499270CV1254331single nucleotide variantNM_001465.6(FYB1):c.2467+11T>Cnot provided [RCV001676505]benign53910822039108220Humanname
150493200CV1267098single nucleotide variantNM_001465.6(FYB1):c.2239-84A>Cnot provided [RCV001688125]benign53911912039119120Humanname
150455561CV1277811single nucleotide variantNM_001465.6(FYB1):c.1817+15G>Anot provided [RCV001708988]benign53913419339134193Humanname
150500818CV1283871single nucleotide variantNM_001465.6(FYB1):c.1135+29T>Cnot provided [RCV001718472]benign53920179739201797Humanname
150333440CV1169116single nucleotide variantNM_001465.6(FYB1):c.2046-128G>Anot provided [RCV001537337]benign53912440639124406Humanname
150334622CV1171426single nucleotide variantNM_001465.6(FYB1):c.1676-151T>Gnot provided [RCV001540145]benign53913450039134500Humanname
150330880CV1171427single nucleotide variantNM_001465.6(FYB1):c.1340-311T>Cnot provided [RCV001538341]benign53913956339139563Humanname
150477817CV1218683single nucleotide variantNM_001465.6(FYB1):c.1292+299C>Anot provided [RCV001616310]benign53915314939153149Humanname
150502563CV1223249single nucleotide variantNM_001465.6(FYB1):c.1675+222G>Anot provided [RCV001621183]benign53913463339134633Humanname
150501659CV1224244single nucleotide variantNM_001465.6(FYB1):c.2468-316T>Cnot provided [RCV001620885]benign53910778139107781Humanname
150498989CV1224512single nucleotide variantNM_001465.6(FYB1):c.1907+140G>Anot provided [RCV001620343]benign53912760139127601Humanname
150516749CV1227221single nucleotide variantNM_001465.6(FYB1):c.1817+141A>Gnot provided [RCV001639319]benign53913406739134067Humanname
150508249CV1229598single nucleotide variantNM_001465.6(FYB1):c.2239-106T>Cnot provided [RCV001636176]benign53911914239119142Humanname
150461166CV1231442single nucleotide variantNM_001465.6(FYB1):c.1817+325A>Cnot provided [RCV001641008]benign53913388339133883Humanname
150446514CV1232115single nucleotide variantNM_001465.6(FYB1):c.1359+159T>Cnot provided [RCV001646023]benign53913907439139074Humanname
150497156CV1236975deletionNM_001465.6(FYB1):c.1907+290delnot provided [RCV001656039]benign53912745139127451Humanname
150495063CV1241507single nucleotide variantNM_001465.6(FYB1):c.1293-278A>Tnot provided [RCV001655514]benign53914141939141419Humanname
150511194CV1242636single nucleotide variantNM_001465.6(FYB1):c.1394+225A>Gnot provided [RCV001660988]benign53913843239138432Humanname
150509226CV1247254single nucleotide variantNM_001465.6(FYB1):c.2046-213T>Anot provided [RCV001659281]benign53912449139124491Humanname
150471017CV1248131single nucleotide variantNM_001465.6(FYB1):c.2045+301C>Gnot provided [RCV001671167]benign53912569739125697Humanname
150490163CV1250977single nucleotide variantNM_001465.6(FYB1):c.1359+200A>Tnot provided [RCV001674644]benign53913903339139033Humanname
150504437CV1257996deletionNM_001465.6(FYB1):c.1908-204delnot provided [RCV001677685]benign53912633939126339Humanname
150484218CV1263130single nucleotide variantNM_001465.6(FYB1):c.1339+109T>Cnot provided [RCV001686530]benign53914098639140986Humanname
150444216CV1277964single nucleotide variantNM_001465.6(FYB1):c.1395-144C>Tnot provided [RCV001707107]benign53913786439137864Humanname
150476009CV1279173single nucleotide variantNM_001465.6(FYB1):c.1515+322T>Cnot provided [RCV001713922]benign53913727839137278Humanname
150472970CV1281327single nucleotide variantNM_001465.6(FYB1):c.1908-320C>Anot provided [RCV001713454]benign53912645539126455Humanname
150487671CV1283872single nucleotide variantNM_001465.6(FYB1):c.1136-175C>Tnot provided [RCV001715990]benign53915377939153779Humanname
150487693CV1283875single nucleotide variantNM_001465.6(FYB1):c.1817+291T>Cnot provided [RCV001715993]benign53913391739133917Humanname
408367426CV3513899single nucleotide variantNM_001465.6(FYB1):c.-27-5884C>TFYB1-related disorder [RCV004758504]likely benign53920887139208871Humanname , trait , alternate_id
408367505CV3514745single nucleotide variantNM_001465.6(FYB1):c.-27-5883A>GFYB1-related disorder [RCV004758520]likely benign53920887039208870Humanname , trait , alternate_id
150472383CV1272479duplicationNM_001465.6(FYB1):c.1907+268_1907+269dupnot provided [RCV001695535]benign53912745039127451Humanname
150470747CV1269915insertionNM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCTnot provided [RCV001695202]benign53915314939153150Humanname
8594827CV32767single nucleotide variantNM_002036.4(ACKR1):c.125G>A (p.Gly42Asp)ACKR1-related disorder [RCV003974842]|DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM [RCV000000005]|not provided [RCV004713174]|not specified [RCV000825065]benign1159205564159205564Human35trait
8594827CV32767single nucleotide variantNM_002036.4(ACKR1):c.125G>A (p.Gly42Asp)ACKR1-related disorder [RCV003974842]|DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM [RCV000000005]|not provided [RCV004713174]|not specified [RCV000825065]benign1159205564159205565Human35trait
401726772CV2736176single nucleotide variantNM_001465.6(FYB1):c.243G>A (p.Pro81=)FYB1-related disorder [RCV003966312]|not provided [RCV003312623]likely benign53920271839202718Human1name , trait , alternate_id
401917675CV2827739single nucleotide variantNM_001465.6(FYB1):c.1941G>A (p.Thr647=)FYB1-related disorder [RCV003939002]|not provided [RCV003429626]likely benign53912610239126102Human1name , trait , alternate_id
405280051CV3191654single nucleotide variantNM_001465.6(FYB1):c.1280C>T (p.Pro427Leu)FYB1-related disorder [RCV003919792]|not provided [RCV004790642]likely benign|uncertain significance53915346039153460Human1name , trait , alternate_id
405276100CV3193230single nucleotide variantNM_001465.6(FYB1):c.804G>A (p.Ala268=)FYB1-related disorder [RCV003974396]likely benign53920215739202157Humanname , trait , alternate_id
405286067CV3196577single nucleotide variantNM_001465.6(FYB1):c.1281G>A (p.Pro427=)FYB1-related disorder [RCV003981429]likely benign53915345939153459Humanname , trait , alternate_id
405275700CV3199439single nucleotide variantNM_001465.6(FYB1):c.410C>T (p.Pro137Leu)FYB1-related disorder [RCV003916846]likely benign53920255139202551Humanname , trait , alternate_id
405280066CV3200297single nucleotide variantNM_001465.6(FYB1):c.18G>A (p.Thr6=)FYB1-related disorder [RCV003977197]likely benign53920294339202943Humanname , trait , alternate_id
405266612CV3202040single nucleotide variantNM_001465.6(FYB1):c.290G>T (p.Ser97Ile)FYB1-related disorder [RCV003911522]|not specified [RCV004927972]likely benign|uncertain significance53920267139202671Human1name , trait , alternate_id
405258321CV3203185single nucleotide variantNM_001465.6(FYB1):c.606G>A (p.Pro202=)FYB1-related disorder [RCV003941793]likely benign53920235539202355Humanname , trait , alternate_id
405295102CV3211003single nucleotide variantNM_001465.6(FYB1):c.2000G>A (p.Arg667Gln)FYB1-related disorder [RCV003937006]|not specified [RCV004369809]likely benign|uncertain significance53912604339126043Human1name , trait , alternate_id
405284326CV3213714single nucleotide variantNM_001465.6(FYB1):c.2412C>T (p.Val804=)FYB1-related disorder [RCV003922273]likely benign53911037939110379Humanname , trait , alternate_id
405271551CV3219134single nucleotide variantNM_001465.6(FYB1):c.982C>A (p.Gln328Lys)FYB1-related disorder [RCV003971829]benign53920197939201979Humanname , trait , alternate_id
405268031CV3219571single nucleotide variantNM_001465.6(FYB1):c.1906G>T (p.Gly636Cys)FYB1-related disorder [RCV003969779]likely benign53912774239127742Humanname , trait , alternate_id
408367494CV3517503single nucleotide variantNM_001465.6(FYB1):c.29C>G (p.Pro10Arg)FYB1-related disorder [RCV004758573]uncertain significance53920293239202932Humanname , trait , alternate_id
597779015CV3676866single nucleotide variantNM_001465.6(FYB1):c.5C>T (p.Ala2Val)not specified [RCV004930270]uncertain significance53920295639202956Humanname
407485378CV3439437single nucleotide variantNM_001465.6(FYB1):c.17C>T (p.Thr6Met)not specified [RCV004618906]uncertain significance53920294439202944Humanname
597742906CV3676869single nucleotide variantNM_001465.6(FYB1):c.23G>A (p.Gly8Asp)not specified [RCV004921959]uncertain significance53920293839202938Humanname
597742911CV3676870single nucleotide variantNM_001465.6(FYB1):c.17C>G (p.Thr6Arg)not specified [RCV004921960]uncertain significance53920294439202944Humanname
401917677CV2827742single nucleotide variantNM_001465.6(FYB1):c.459G>A (p.Pro153=)not provided [RCV003429628]likely benign53920250239202502Humanname
405731521CV3257753single nucleotide variantNM_001465.6(FYB1):c.92G>T (p.Gly31Val)not specified [RCV004389926]uncertain significance53920286939202869Humanname
407485365CV3439435single nucleotide variantNM_001465.6(FYB1):c.58C>A (p.Pro20Thr)not specified [RCV004618904]uncertain significance53920290339202903Humanname
15162262CV735109single nucleotide variantNM_001465.6(FYB1):c.819A>C (p.Pro273=)not provided [RCV000903517]benign53920214239202142Humanname
150513860CV1210736single nucleotide variantNM_001465.6(FYB1):c.1296C>T (p.Ser432=)not provided [RCV001598777]benign53914113839141138Humanname
150443764CV1277901single nucleotide variantNM_001465.6(FYB1):c.1710C>T (p.Asp570=)not provided [RCV001707044]benign53913431539134315Humanname
243049479CV2416855single nucleotide variantNM_001465.6(FYB1):c.2068T>C (p.Leu690=)not specified [RCV003151527]likely benign53912425639124256Humanname
401917676CV2827740single nucleotide variantNM_001465.6(FYB1):c.1651T>C (p.Leu551=)not provided [RCV003429627]likely benign53913487939134879Humanname
401912646CV2827741single nucleotide variantNM_001465.6(FYB1):c.1629A>G (p.Thr543=)not provided [RCV003427454]likely benign53913490139134901Humanname
405730410CV3257726single nucleotide variantNM_001465.6(FYB1):c.139C>T (p.Pro47Ser)not specified [RCV004389899]uncertain significance53920282239202822Humanname
405730418CV3257727single nucleotide variantNM_001465.6(FYB1):c.151C>T (p.Pro51Ser)not specified [RCV004389900]uncertain significance53920281039202810Humanname
405730520CV3257739single nucleotide variantNM_001465.6(FYB1):c.242C>G (p.Pro81Arg)not specified [RCV004389912]uncertain significance53920271939202719Humanname
405730546CV3257742single nucleotide variantNM_001465.6(FYB1):c.256A>G (p.Thr86Ala)not provided [RCV004767533]|not specified [RCV004389915]uncertain significance53920270539202705Humanname
405730552CV3257743single nucleotide variantNM_001465.6(FYB1):c.278G>A (p.Gly93Glu)not specified [RCV004389916]uncertain significance53920268339202683Humanname
405730558CV3257744single nucleotide variantNM_001465.6(FYB1):c.287C>A (p.Ala96Asp)not specified [RCV004389917]uncertain significance53920267439202674Humanname
596945966CV3548124single nucleotide variantNM_001465.6(FYB1):c.1026G>A (p.Pro342=)not provided [RCV004809455]likely benign53920193539201935Humanname
597742884CV3676858single nucleotide variantNM_001465.6(FYB1):c.140C>T (p.Pro47Leu)not specified [RCV004921955]uncertain significance53920282139202821Humanname
597779007CV3676863single nucleotide variantNM_001465.6(FYB1):c.242C>T (p.Pro81Leu)not specified [RCV004930268]uncertain significance53920271939202719Humanname
597742928CV3676875single nucleotide variantNM_001465.6(FYB1):c.292T>G (p.Leu98Val)not specified [RCV004921963]uncertain significance53920266939202669Humanname
150437602CV1286571single nucleotide variantNM_001465.6(FYB1):c.374C>A (p.Ser125Tyr)not provided [RCV001724650]benign53920258739202587Humanname
243064730CV2410249single nucleotide variantNM_001465.6(FYB1):c.405C>G (p.Asn135Lys)Thrombocytopenia 3 [RCV003143432]uncertain significance53920255639202556Human1name
329377430CV2435917single nucleotide variantNM_001465.6(FYB1):c.385T>C (p.Phe129Leu)not specified [RCV004255144]uncertain significance53920257639202576Humanname
329358396CV2450305single nucleotide variantNM_001465.6(FYB1):c.674C>A (p.Ser225Tyr)not specified [RCV004271396]uncertain significance53920228739202287Humanname
401747378CV2688899single nucleotide variantNM_001465.6(FYB1):c.961A>G (p.Thr321Ala)not specified [RCV004303907]uncertain significance53920200039202000Humanname
401777569CV2704159single nucleotide variantNM_001465.6(FYB1):c.685C>A (p.Leu229Met)not specified [RCV004311172]uncertain significance53920227639202276Humanname
401777676CV2704258single nucleotide variantNM_001465.6(FYB1):c.743A>T (p.Lys248Ile)not specified [RCV004311254]uncertain significance53920221839202218Humanname
401892919CV2758219single nucleotide variantNM_001465.6(FYB1):c.423T>G (p.Ser141Arg)not specified [RCV004341584]uncertain significance53920253839202538Humanname
405730566CV3257745single nucleotide variantNM_001465.6(FYB1):c.306C>G (p.Asp102Glu)not specified [RCV004389918]uncertain significance53920265539202655Humanname
405730576CV3257746single nucleotide variantNM_001465.6(FYB1):c.310G>A (p.Glu104Lys)not specified [RCV004389919]uncertain significance53920265139202651Humanname
405730584CV3257747single nucleotide variantNM_001465.6(FYB1):c.380C>T (p.Pro127Leu)not specified [RCV004389920]uncertain significance53920258139202581Humanname
405730593CV3257748single nucleotide variantNM_001465.6(FYB1):c.458C>G (p.Pro153Arg)not specified [RCV004389921]uncertain significance53920250339202503Humanname
405731552CV3257749single nucleotide variantNM_001465.6(FYB1):c.706G>A (p.Gly236Ser)not specified [RCV004389922]uncertain significance53920225539202255Humanname
405731545CV3257750single nucleotide variantNM_001465.6(FYB1):c.814G>T (p.Gly272Cys)not specified [RCV004389923]uncertain significance53920214739202147Humanname
405731539CV3257751single nucleotide variantNM_001465.6(FYB1):c.823C>T (p.Leu275Phe)not specified [RCV004389924]uncertain significance53920213839202138Humanname
405731531CV3257752single nucleotide variantNM_001465.6(FYB1):c.886C>A (p.Gln296Lys)not specified [RCV004389925]uncertain significance53920207539202075Humanname
405731515CV3257754single nucleotide variantNM_001465.6(FYB1):c.943A>G (p.Lys315Glu)not specified [RCV004389927]uncertain significance53920201839202018Humanname
405731505CV3257755single nucleotide variantNM_001465.6(FYB1):c.949C>G (p.Pro317Ala)not specified [RCV004389928]uncertain significance53920201239202012Humanname
407485347CV3439432single nucleotide variantNM_001465.6(FYB1):c.610C>G (p.Leu204Val)not specified [RCV004618901]uncertain significance53920235139202351Humanname
407485372CV3439436single nucleotide variantNM_001465.6(FYB1):c.739A>G (p.Asn247Asp)not specified [RCV004618905]uncertain significance53920222239202222Humanname
596931615CV3538765single nucleotide variantNM_001465.6(FYB1):c.458C>T (p.Pro153Leu)not provided [RCV004792891]uncertain significance53920250339202503Humanname
597742890CV3676859single nucleotide variantNM_001465.6(FYB1):c.352A>G (p.Ile118Val)not specified [RCV004921956]uncertain significance53920260939202609Humanname
597778995CV3676860single nucleotide variantNM_001465.6(FYB1):c.506C>T (p.Ala169Val)not specified [RCV004930265]likely benign53920245539202455Humanname
597779011CV3676864single nucleotide variantNM_001465.6(FYB1):c.656T>C (p.Val219Ala)not specified [RCV004930269]likely benign53920230539202305Humanname
597779025CV3676874single nucleotide variantNM_001465.6(FYB1):c.630T>A (p.His210Gln)not specified [RCV004930273]likely benign53920233139202331Humanname
12893147CV404860single nucleotide variantNM_001465.6(FYB1):c.393G>A (p.Trp131Ter)Thrombocytopenia 3 [RCV000477969]pathogenic53920256839202568Human1name
13217064CV428436single nucleotide variantNM_001465.6(FYB1):c.945G>T (p.Lys315Asn)not specified [RCV000504374]uncertain significance53920201639202016Humanname
15100603CV699092single nucleotide variantNM_001465.6(FYB1):c.995A>G (p.Lys332Arg)not provided [RCV000958939]benign53920196639201966Humanname
126732216CV1020095single nucleotide variantNM_001465.6(FYB1):c.2434A>C (p.Asn812His)Thrombocytopenia 3 [RCV001333946]uncertain significance53911035739110357Human1name
150496580CV1271568single nucleotide variantNM_001465.6(FYB1):c.2152G>T (p.Val718Phe)not provided [RCV001688868]benign53911962139119621Humanname
329376441CV2425138single nucleotide variantNM_001465.6(FYB1):c.1106C>G (p.Thr369Arg)not specified [RCV004249029]uncertain significance53920185539201855Humanname
329359318CV2435422single nucleotide variantNM_001465.6(FYB1):c.2294C>T (p.Ser765Phe)not specified [RCV004253074]uncertain significance53911898139118981Humanname
401760243CV2709690single nucleotide variantNM_001465.6(FYB1):c.1152G>C (p.Gln384His)not specified [RCV004320687]uncertain significance53915358839153588Humanname
401763252CV2720250single nucleotide variantNM_001465.6(FYB1):c.2455G>A (p.Asp819Asn)not specified [RCV004325583]uncertain significance53910824339108243Humanname
401879723CV2769709single nucleotide variantNM_001465.6(FYB1):c.1022C>A (p.Thr341Asn)not specified [RCV004351628]uncertain significance53920193939201939Humanname
401891394CV2770504single nucleotide variantNM_001465.6(FYB1):c.2136G>T (p.Met712Ile)not specified [RCV004358136]uncertain significance53912233839122338Humanname
401864418CV2773419single nucleotide variantNM_001465.6(FYB1):c.2357C>T (p.Thr786Ile)not specified [RCV004354059]uncertain significance53911891839118918Humanname
401870100CV2792276single nucleotide variantNM_001465.6(FYB1):c.1397A>G (p.Glu466Gly)not specified [RCV004361465]uncertain significance53913771839137718Humanname
405730344CV3257718single nucleotide variantNM_001465.6(FYB1):c.1050G>T (p.Leu350Phe)not specified [RCV004389891]uncertain significance53920191139201911Humanname
405730357CV3257719single nucleotide variantNM_001465.6(FYB1):c.1083C>G (p.Asn361Lys)not specified [RCV004389892]uncertain significance53920187839201878Humanname
405730362CV3257720single nucleotide variantNM_001465.6(FYB1):c.1106C>T (p.Thr369Met)not specified [RCV004389893]uncertain significance53920185539201855Humanname
405730370CV3257721single nucleotide variantNM_001465.6(FYB1):c.1117A>G (p.Lys373Glu)not specified [RCV004389894]uncertain significance53920184439201844Humanname
405730379CV3257722single nucleotide variantNM_001465.6(FYB1):c.1190C>G (p.Pro397Arg)not specified [RCV004389895]uncertain significance53915355039153550Humanname
405730385CV3257723single nucleotide variantNM_001465.6(FYB1):c.1259C>T (p.Pro420Leu)not specified [RCV004389896]uncertain significance53915348139153481Humanname
405730392CV3257724single nucleotide variantNM_001465.6(FYB1):c.1304A>G (p.Asn435Ser)not specified [RCV004389897]uncertain significance53914113039141130Humanname
405730402CV3257725single nucleotide variantNM_001465.6(FYB1):c.1342G>T (p.Ala448Ser)not specified [RCV004389898]uncertain significance53913925039139250Humanname
405730426CV3257728single nucleotide variantNM_001465.6(FYB1):c.1528A>T (p.Ile510Phe)not specified [RCV004389901]uncertain significance53913500239135002Humanname
405730435CV3257729single nucleotide variantNM_001465.6(FYB1):c.1559G>A (p.Cys520Tyr)not specified [RCV004389902]uncertain significance53913497139134971Humanname
405730444CV3257730single nucleotide variantNM_001465.6(FYB1):c.1631A>G (p.Asp544Gly)not specified [RCV004389903]uncertain significance53913489939134899Humanname
405730455CV3257731single nucleotide variantNM_001465.6(FYB1):c.1669G>A (p.Gly557Ser)not specified [RCV004389904]uncertain significance53913486139134861Humanname
405730462CV3257732single nucleotide variantNM_001465.6(FYB1):c.1928A>G (p.Glu643Gly)not specified [RCV004389905]uncertain significance53912611539126115Humanname
405730472CV3257733single nucleotide variantNM_001465.6(FYB1):c.1959G>C (p.Leu653Phe)not specified [RCV004389906]uncertain significance53912608439126084Humanname
405730480CV3257734single nucleotide variantNM_001465.6(FYB1):c.2075T>C (p.Met692Thr)not specified [RCV004389907]uncertain significance53912239939122399Humanname
405730488CV3257735single nucleotide variantNM_001465.6(FYB1):c.2290A>G (p.Thr764Ala)not specified [RCV004389908]uncertain significance53911898539118985Humanname
405730498CV3257736single nucleotide variantNM_001465.6(FYB1):c.2350A>T (p.Ile784Leu)not specified [RCV004389909]uncertain significance53911892539118925Humanname
405730503CV3257737single nucleotide variantNM_001465.6(FYB1):c.2374G>T (p.Val792Phe)not specified [RCV004389910]uncertain significance53911890139118901Humanname
405730512CV3257738single nucleotide variantNM_001465.6(FYB1):c.2389G>A (p.Glu797Lys)not specified [RCV004389911]uncertain significance53911888639118886Humanname
405730528CV3257740single nucleotide variantNM_001465.6(FYB1):c.2468G>A (p.Gly823Asp)not specified [RCV004389913]uncertain significance53910746539107465Humanname
405730535CV3257741single nucleotide variantNM_001465.6(FYB1):c.2482A>T (p.Asn828Tyr)not specified [RCV004389914]uncertain significance53910745139107451Humanname
407485353CV3439433single nucleotide variantNM_001465.6(FYB1):c.2288T>C (p.Ile763Thr)not specified [RCV004618902]uncertain significance53911898739118987Humanname
407485360CV3439434single nucleotide variantNM_001465.6(FYB1):c.1199C>T (p.Pro400Leu)not specified [RCV004618903]uncertain significance53915354139153541Humanname
407485386CV3439438single nucleotide variantNM_001465.6(FYB1):c.1177C>T (p.Pro393Ser)not specified [RCV004618907]uncertain significance53915356339153563Humanname
596931609CV3538763single nucleotide variantNM_001465.6(FYB1):c.1328C>T (p.Thr443Met)not provided [RCV004792889]uncertain significance53914110639141106Humanname
596931612CV3538764single nucleotide variantNM_001465.6(FYB1):c.1201G>T (p.Ala401Ser)not provided [RCV004792890]uncertain significance53915353939153539Humanname
597779003CV3676862single nucleotide variantNM_001465.6(FYB1):c.1763T>C (p.Ile588Thr)not specified [RCV004930267]likely benign53913426239134262Humanname
597742895CV3676865single nucleotide variantNM_001465.6(FYB1):c.1850C>T (p.Pro617Leu)not specified [RCV004921957]uncertain significance53912779839127798Humanname
597779019CV3676867single nucleotide variantNM_001465.6(FYB1):c.1003G>A (p.Gly335Arg)not specified [RCV004930271]uncertain significance53920195839201958Humanname
597742900CV3676868single nucleotide variantNM_001465.6(FYB1):c.1369A>T (p.Ser457Cys)not specified [RCV004921958]uncertain significance53913868239138682Humanname
597779023CV3676872single nucleotide variantNM_001465.6(FYB1):c.2311A>G (p.Arg771Gly)not specified [RCV004930272]uncertain significance53911896439118964Humanname
597742922CV3676873single nucleotide variantNM_001465.6(FYB1):c.1088C>T (p.Pro363Leu)not specified [RCV004921962]uncertain significance53920187339201873Humanname
597779030CV3676876single nucleotide variantNM_001465.6(FYB1):c.1996A>G (p.Ile666Val)not specified [RCV004930274]uncertain significance53912604739126047Humanname
598243830CV3966836single nucleotide variantNM_001465.6(FYB1):c.2135T>C (p.Met712Thr)not specified [RCV005344771]uncertain significance53912233939122339Humanname
598243836CV3966837single nucleotide variantNM_001465.6(FYB1):c.1525C>T (p.Pro509Ser)not specified [RCV005344772]uncertain significance53913500539135005Humanname
598243844CV3966838single nucleotide variantNM_001465.6(FYB1):c.1025C>T (p.Pro342Leu)not specified [RCV005344773]uncertain significance53920193639201936Humanname
598243851CV3966839single nucleotide variantNM_001465.6(FYB1):c.2078G>A (p.Gly693Glu)not specified [RCV005344774]uncertain significance53912239639122396Humanname
598243858CV3966840single nucleotide variantNM_001465.6(FYB1):c.1490A>G (p.Glu497Gly)not specified [RCV005344775]uncertain significance53913762539137625Humanname
598243865CV3966841single nucleotide variantNM_001465.6(FYB1):c.1181C>T (p.Pro394Leu)not specified [RCV005344776]uncertain significance53915355939153559Humanname
598158671CV3966842single nucleotide variantNM_001465.6(FYB1):c.2071G>A (p.Asp691Asn)not specified [RCV005328096]uncertain significance53912425339124253Humanname
598243873CV3966843single nucleotide variantNM_001465.6(FYB1):c.1808A>C (p.Asp603Ala)not specified [RCV005344777]uncertain significance53913421739134217Humanname
13214504CV428435single nucleotide variantNM_001465.6(FYB1):c.1922T>C (p.Val641Ala)not provided [RCV004791500]|not specified [RCV000501347]likely benign|conflicting interpretations of pathogenicity|uncertain significance53912612139126121Humanname
38468030CV920738single nucleotide variantNM_001465.6(FYB1):c.1154C>T (p.Thr385Met)not provided [RCV001200514]|not specified [RCV004033487]uncertain significance53915358639153586Humanname
401927765CV2812826single nucleotide variantNM_001004303.5(FYB2):c.1689G>A (p.Ser563=)not provided [RCV003406518]likely benign15674071156740711Humanname
405731496CV3257756single nucleotide variantNM_001004303.5(FYB2):c.184C>T (p.Arg62Cys)not specified [RCV004389929]uncertain significance15679262956792629Humanname
405731491CV3257757single nucleotide variantNM_001004303.5(FYB2):c.535C>T (p.Pro179Ser)not specified [RCV004389930]uncertain significance15679227856792278Humanname
405731482CV3257758single nucleotide variantNM_001004303.5(FYB2):c.836C>T (p.Pro279Leu)not specified [RCV004389931]uncertain significance15678905656789056Humanname
405731473CV3257759single nucleotide variantNM_001004303.5(FYB2):c.933G>C (p.Glu311Asp)not specified [RCV004389932]uncertain significance15678719556787195Humanname
13820821CV576087single nucleotide variantNM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)not provided [RCV000709902]not provided15674423456744234Humanname
12893155CV404859microsatelliteNM_001465.6(FYB1):c.1385_1386del (p.Thr461_Tyr462insTer)Thrombocytopenia 3 [RCV000477971]pathogenic53913866539138666Humanname