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634 records found for search term Fkbp10
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8557491CV18572duplicationFKBP10, 1-BP DUP, 831CBruck syndrome 1 [RCV000034358]|Osteogenesis imperfecta type 11 [RCV000003711]|Osteogenesis imperfecta type 12 [RCV000003711]pathogenicHumanname
405272768CV3201373single nucleotide variantNM_021939.4(FKBP10):c.*10A>TFKBP10-related disorder [RCV003901436]likely benign174182241841822418Humanname , trait , alternate_id
28894893CV877480single nucleotide variantNM_021939.3(FKBP10):c.-89G>AOsteogenesis imperfecta type 11 [RCV001122274]uncertain significance174181294641812946Human1name
28894896CV877481single nucleotide variantNM_021939.3(FKBP10):c.-35C>AOsteogenesis imperfecta type 11 [RCV001122275]uncertain significance174181300041813000Human1name
11623541CV328422single nucleotide variantNM_021939.3(FKBP10):c.-183C>GOsteogenesis imperfecta type 11 [RCV000373995]uncertain significance174181285241812852Human1name
11623599CV328428single nucleotide variantNM_021939.4(FKBP10):c.*422C>GOsteogenesis imperfecta type 11 [RCV000375077]|not provided [RCV004709635]benign174182283041822830Human1name
11612848CV338380single nucleotide variantNM_021939.3(FKBP10):c.-177C>GOsteogenesis imperfecta type 11 [RCV000263005]uncertain significance174181285841812858Human1name
11624568CV338398single nucleotide variantNM_021939.4(FKBP10):c.*402T>AOsteogenesis imperfecta type 11 [RCV000387842]|not provided [RCV004709633]benign174182281041822810Human1name
11616297CV338401single nucleotide variantNM_021939.4(FKBP10):c.*421C>GOsteogenesis imperfecta type 11 [RCV000293466]|not provided [RCV004709634]benign174182282941822829Human1name
11614833CV338404single nucleotide variantNM_021939.4(FKBP10):c.*549G>AOsteogenesis imperfecta type 11 [RCV000280105]|not provided [RCV004694323]uncertain significance174182295741822957Human1name
11649217CV338407single nucleotide variantNM_021939.4(FKBP10):c.*693G>TOsteogenesis imperfecta type 11 [RCV000285856]uncertain significance174182310141823101Human1name
11659769CV344439single nucleotide variantNM_021939.3(FKBP10):c.-303G>AOsteogenesis imperfecta type 11 [RCV000360988]uncertain significance174181273241812732Human1name
11626226CV344440single nucleotide variantNM_021939.3(FKBP10):c.-267G>AOsteogenesis imperfecta type 11 [RCV000259244]|not provided [RCV001555277]likely benign|uncertain significance174181276841812768Human1name
11656631CV344452single nucleotide variantNM_021939.4(FKBP10):c.*589T>COsteogenesis imperfecta type 11 [RCV000335182]uncertain significance174182299741822997Human1name
11629181CV345842single nucleotide variantNM_021939.3(FKBP10):c.-207C>TOsteogenesis imperfecta type 11 [RCV000317023]uncertain significance174181282841812828Human1name
14729610CV668995single nucleotide variantNM_021939.3(FKBP10):c.-412C>Gnot provided [RCV000835301]likely benign174181262341812623Humanname
28908170CV877479single nucleotide variantNM_021939.3(FKBP10):c.-271G>COsteogenesis imperfecta type 11 [RCV001128033]uncertain significance174181276441812764Human1name
28904571CV877499single nucleotide variantNM_021939.4(FKBP10):c.*125C>TOsteogenesis imperfecta type 11 [RCV001126141]uncertain significance174182253341822533Human1name
28904573CV877500single nucleotide variantNM_021939.4(FKBP10):c.*197T>AOsteogenesis imperfecta type 11 [RCV001126142]uncertain significance174182260541822605Human1name
28904576CV877501single nucleotide variantNM_021939.4(FKBP10):c.*293G>AOsteogenesis imperfecta type 11 [RCV001126143]uncertain significance174182270141822701Human1name
28908505CV877502single nucleotide variantNM_021939.4(FKBP10):c.*508G>AOsteogenesis imperfecta type 11 [RCV001128225]uncertain significance174182291641822916Human1name
28895504CV877503single nucleotide variantNM_021939.4(FKBP10):c.*747C>TOsteogenesis imperfecta type 11 [RCV001122494]uncertain significance174182315541823155Human1name
28895508CV877504single nucleotide variantNM_021939.4(FKBP10):c.*760G>AOsteogenesis imperfecta type 11 [RCV001122495]uncertain significance174182316841823168Human1name
127286095CV1161766single nucleotide variantNM_021939.4(FKBP10):c.391+4A>TOsteogenesis imperfecta type 11 [RCV001526492]likely pathogenic174181720741817207Human1name
150410790CV1178158duplicationNM_021939.4(FKBP10):c.246-3dupFKBP10-related disorder [RCV003966170]|not provided [RCV001546828]benign|likely benign174181704741817048Human1name , trait , alternate_id
151751375CV1378196single nucleotide variantNM_021939.4(FKBP10):c.728-1G>Anot provided [RCV002043317]likely pathogenic174181920941819209Humanname
152098843CV1530986single nucleotide variantNM_021939.4(FKBP10):c.246-4C>Gnot provided [RCV002132994]likely benign174181705441817054Humanname
152127824CV1554276single nucleotide variantNM_021939.4(FKBP10):c.246-8C>Anot provided [RCV002176398]likely benign174181705041817050Humanname
153347063CV1694396single nucleotide variantNM_021939.4(FKBP10):c.917+5G>AOsteogenesis imperfecta [RCV002277793]|not provided [RCV003101574]uncertain significance174181940441819404Human1name
155957828CV1903787single nucleotide variantNM_021939.4(FKBP10):c.918-3C>AOsteogenesis imperfecta [RCV005406590]|not provided [RCV003095681]pathogenic|likely pathogenic|uncertain significance174181952741819527Human1name
10050844CV192531single nucleotide variantNM_021939.4(FKBP10):c.246-5C>GFKBP10-related disorder [RCV003947491]|Osteogenesis imperfecta [RCV002277369]|Osteogenesis imperfecta type 11 [RCV000329828]|not provided [RCV000175935]|not specified [RCV003330535]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance174181705341817053Human2name , trait , alternate_id
156437040CV1936938single nucleotide variantNM_021939.4(FKBP10):c.917+9G>AFKBP10-related disorder [RCV003906641]|not provided [RCV003106568]likely benign174181940841819408Human1name , trait , alternate_id
156448457CV1950736single nucleotide variantNM_021939.4(FKBP10):c.245+8C>Tnot provided [RCV003120019]|not specified [RCV004526239]likely benign174181328741813287Humanname
156415401CV1958378single nucleotide variantNM_021939.4(FKBP10):c.246-5C>Anot provided [RCV002589147]likely benign|uncertain significance174181705341817053Humanname
156402858CV1988756single nucleotide variantNM_021939.4(FKBP10):c.917+1G>Anot provided [RCV002605786]likely pathogenic174181940041819400Humanname
156286612CV2061911single nucleotide variantNM_021939.4(FKBP10):c.727+6G>Tnot provided [RCV002833031]uncertain significance174181853341818533Humanname
156096252CV2139699single nucleotide variantNM_021939.4(FKBP10):c.581+8G>Anot provided [RCV002979803]likely benign174181828641818286Humanname
405225964CV2882233single nucleotide variantNM_021939.4(FKBP10):c.581+9C>Tnot provided [RCV003554638]likely benign174181828741818287Humanname
405131023CV2905165single nucleotide variantNM_021939.4(FKBP10):c.918-3C>Gnot provided [RCV003560005]pathogenic174181952741819527Humanname
402475949CV2916105single nucleotide variantNM_021939.4(FKBP10):c.391+9G>Anot provided [RCV003571327]likely benign174181721241817212Humanname
405143119CV2945970single nucleotide variantNM_021939.4(FKBP10):c.728-9C>Tnot provided [RCV003669444]likely benign174181920141819201Humanname
405096427CV2947386single nucleotide variantNM_021939.4(FKBP10):c.392-8T>Cnot provided [RCV003665570]likely benign174181808141818081Humanname
405148025CV2960071single nucleotide variantNM_021939.4(FKBP10):c.392-9C>Gnot provided [RCV003669792]likely benign174181808041818080Humanname
405245141CV2972741single nucleotide variantNM_021939.4(FKBP10):c.246-6C>Tnot provided [RCV003685016]likely benign174181705241817052Humanname
405239598CV2997084single nucleotide variantNM_021939.4(FKBP10):c.246-4C>Tnot provided [RCV003718842]likely benign174181705441817054Humanname
405240740CV3003499single nucleotide variantNM_021939.4(FKBP10):c.246-5C>Tnot provided [RCV003719060]likely benign174181705341817053Humanname
405030271CV3015709single nucleotide variantNM_021939.4(FKBP10):c.918-9G>Anot provided [RCV003695426]likely benign174181952141819521Humanname
405058004CV3019585single nucleotide variantNM_021939.4(FKBP10):c.245+9G>Anot provided [RCV003697417]likely benign174181328841813288Humanname
405008036CV3117563single nucleotide variantNM_021939.4(FKBP10):c.246-7C>Anot provided [RCV003828618]likely benign174181705141817051Humanname
405113568CV3133637single nucleotide variantNM_021939.4(FKBP10):c.246-6C>Anot provided [RCV003836430]likely benign174181705241817052Humanname
405048875CV3137840single nucleotide variantNM_021939.4(FKBP10):c.246-4C>Anot provided [RCV003831878]likely benign174181705441817054Humanname
405172918CV3151748single nucleotide variantNM_021939.4(FKBP10):c.246-7C>Tnot provided [RCV003857899]likely benign174181705141817051Humanname
405184851CV3156060deletionNM_021939.4(FKBP10):c.727+2delBruck syndrome 1 [RCV005015046]|not provided [RCV003859134]likely pathogenic174181852941818529Human1name
405213395CV3169803single nucleotide variantNM_021939.4(FKBP10):c.917+8G>Anot provided [RCV003862402]likely benign174181940741819407Humanname
405282098CV3224690single nucleotide variantNM_021939.4(FKBP10):c.392-3C>GOsteogenesis imperfecta type 11 [RCV003989025]uncertain significance174181808641818086Human1name
13521505CV495419single nucleotide variantNM_021939.4(FKBP10):c.392-2A>Gnot provided [RCV000599505]pathogenic|likely pathogenic174181808741818087Humanname
14708502CV669292deletionNM_021939.4(FKBP10):c.246-3delnot provided [RCV000827385]benign|likely benign174181704841817048Humanname
15166982CV672351single nucleotide variantNM_021939.4(FKBP10):c.918-2A>GOsteogenesis imperfecta type III [RCV000860009]likely pathogenic174181952841819528Human1name
15186058CV776320single nucleotide variantNM_021939.4(FKBP10):c.245+9G>CFKBP10-related disorder [RCV003960484]|not provided [RCV000931241]likely benign174181328841813288Human1name , trait , alternate_id
40816246CV858291single nucleotide variantNM_021939.4(FKBP10):c.391+1G>ABruck syndrome [RCV001260285]|not provided [RCV003660842]pathogenic174181720441817204Human1name
40903500CV977283single nucleotide variantNM_021939.4(FKBP10):c.918-6T>GOsteogenesis imperfecta type 11 [RCV001270800]likely pathogenic174181952441819524Human1name
151879869CV1395711single nucleotide variantNM_021939.4(FKBP10):c.1063+4G>Anot provided [RCV001999395]uncertain significance174181967941819679Humanname
152174845CV1520499single nucleotide variantNM_021939.4(FKBP10):c.246-18C>Tnot provided [RCV002184652]likely benign174181704041817040Humanname
152036750CV1532040single nucleotide variantNM_021939.4(FKBP10):c.392-18G>Anot provided [RCV002125461]likely benign174181807141818071Humanname
152050678CV1533244single nucleotide variantNM_021939.4(FKBP10):c.918-15C>Tnot provided [RCV002166837]likely benign174181951541819515Humanname
152158554CV1564437single nucleotide variantNM_021939.4(FKBP10):c.582-20C>Tnot provided [RCV002140527]likely benign174181836241818362Humanname
152106190CV1591629single nucleotide variantNM_021939.4(FKBP10):c.728-15C>Tnot provided [RCV002214842]likely benign174181919541819195Humanname
152039625CV1617235single nucleotide variantNM_021939.4(FKBP10):c.1063+9G>Anot provided [RCV002087761]likely benign174181968441819684Humanname
152169548CV1632342single nucleotide variantNM_021939.4(FKBP10):c.392-19C>Tnot provided [RCV002142823]likely benign174181807041818070Humanname
152060235CV1650516duplicationNM_021939.4(FKBP10):c.1256+8dupnot provided [RCV002128254]likely benign174182046741820468Humanname
156385544CV1874872single nucleotide variantNM_021939.4(FKBP10):c.1400-7C>Tnot provided [RCV003050827]likely benign174182164741821647Humanname
10045122CV188883single nucleotide variantNM_021939.4(FKBP10):c.917+53G>TFKBP10-related disorder [RCV003917583]|Osteogenesis imperfecta type 11 [RCV000989848]|not provided [RCV000171257]likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance174181945241819452Human1name , trait , alternate_id
156414136CV1915743single nucleotide variantNM_021939.4(FKBP10):c.1256+9G>Anot provided [RCV002588432]likely benign174182047041820470Humanname
155948698CV1921789single nucleotide variantNM_021939.4(FKBP10):c.392-10G>Anot provided [RCV002616096]likely benign174181807941818079Humanname
156311654CV1969613single nucleotide variantNM_021939.4(FKBP10):c.391+15G>Anot provided [RCV002578728]likely benign174181721841817218Humanname
156173333CV2016257single nucleotide variantNM_021939.4(FKBP10):c.582-19T>Cnot provided [RCV002710549]likely benign174181836341818363Humanname
156151675CV2070347single nucleotide variantNM_021939.4(FKBP10):c.246-18C>Anot provided [RCV002850890]likely benign174181704041817040Humanname
156375480CV2191003single nucleotide variantNM_021939.4(FKBP10):c.246-12C>Tnot provided [RCV003050065]likely benign174181704641817046Humanname
11546281CV256171single nucleotide variantNM_021939.4(FKBP10):c.1400-4C>GOsteogenesis imperfecta [RCV002278216]|Osteogenesis imperfecta type 11 [RCV000272628]|not provided [RCV000421619]|not specified [RCV000246250]benign|likely benign174182165041821650Human2name
11643060CV270449single nucleotide variantNM_021939.4(FKBP10):c.1399+8G>Tnot provided [RCV000386178]conflicting interpretations of pathogenicity|uncertain significance174182109741821097Humanname
11666719CV272561single nucleotide variantNM_021939.4(FKBP10):c.1399+2T>Gnot provided [RCV000373154]pathogenic174182109141821091Humanname
405167321CV2857712single nucleotide variantNM_021939.4(FKBP10):c.918-18T>Cnot provided [RCV003541892]likely benign174181951241819512Humanname
405177086CV2861028single nucleotide variantNM_021939.4(FKBP10):c.917+15G>Anot provided [RCV003542854]likely benign174181941441819414Humanname
402479830CV2863879single nucleotide variantNM_021939.4(FKBP10):c.728-19A>Tnot provided [RCV003543900]likely benign174181919141819191Humanname
402491219CV2867154single nucleotide variantNM_021939.4(FKBP10):c.581+20C>Gnot provided [RCV003544889]likely benign174181829841818298Humanname
405075428CV2873149single nucleotide variantNM_021939.4(FKBP10):c.246-10C>Tnot provided [RCV003548732]likely benign174181704841817048Humanname
405125326CV2889601single nucleotide variantNM_021939.4(FKBP10):c.1399+8G>Anot provided [RCV003559451]likely benign174182109741821097Humanname
405131035CV2905166single nucleotide variantNM_021939.4(FKBP10):c.1399+1G>Anot provided [RCV003560006]pathogenic174182109041821090Humanname
405172136CV2911933single nucleotide variantNM_021939.4(FKBP10):c.582-15C>Tnot provided [RCV003563067]likely benign174181836741818367Humanname
405212462CV2917536single nucleotide variantNM_021939.4(FKBP10):c.391+18A>Cnot provided [RCV003567336]likely benign174181722141817221Humanname
405011721CV2923340single nucleotide variantNM_021939.4(FKBP10):c.391+11C>Tnot provided [RCV003576670]likely benign174181721441817214Humanname
402470447CV2931354single nucleotide variantNM_021939.4(FKBP10):c.918-13C>Tnot provided [RCV003570292]likely benign174181951741819517Humanname
405155328CV2950805deletionNM_021939.4(FKBP10):c.917+10delnot provided [RCV003670331]likely benign174181940741819407Humanname
405168254CV2950866single nucleotide variantNM_021939.4(FKBP10):c.917+18G>Cnot provided [RCV003675115]likely benign174181941741819417Humanname
405237892CV2969968single nucleotide variantNM_021939.4(FKBP10):c.245+16C>Tnot provided [RCV003683361]likely benign174181329541813295Humanname
405244238CV2971768single nucleotide variantNM_021939.4(FKBP10):c.1064-6C>Tnot provided [RCV003684700]likely benign174182026341820263Humanname
405205001CV2990516single nucleotide variantNM_021939.4(FKBP10):c.727+14A>Gnot provided [RCV003678550]likely benign174181854141818541Humanname
402515308CV2991577deletionNM_021939.4(FKBP10):c.246-11delnot provided [RCV003689803]likely benign174181704741817047Humanname
402509377CV2998313single nucleotide variantNM_021939.4(FKBP10):c.246-15T>Cnot provided [RCV003689333]likely benign174181704341817043Humanname
405025908CV2999676single nucleotide variantNM_021939.4(FKBP10):c.1257-9C>Tnot provided [RCV003695134]likely benign174182093841820938Humanname
404986431CV3001546single nucleotide variantNM_021939.4(FKBP10):c.917+19T>Gnot provided [RCV003691870]likely benign174181941841819418Humanname
405001134CV3005393single nucleotide variantNM_021939.4(FKBP10):c.245+12T>Gnot provided [RCV003693128]likely benign174181329141813291Humanname
405121493CV3024497single nucleotide variantNM_021939.4(FKBP10):c.391+17C>Tnot provided [RCV003700727]likely benign174181722041817220Humanname
402509726CV3036183single nucleotide variantNM_021939.4(FKBP10):c.581+12G>Anot provided [RCV003715394]likely benign174181829041818290Humanname
402509318CV3042382single nucleotide variantNM_021939.4(FKBP10):c.1563+1G>ABruck syndrome 1 [RCV004798056]|not provided [RCV003715539]pathogenic|likely pathogenic174182181841821818Human1name
405182696CV3057683single nucleotide variantNM_021939.4(FKBP10):c.1256+8C>Tnot provided [RCV003728948]likely benign174182046941820469Humanname
405103530CV3116281single nucleotide variantNM_021939.4(FKBP10):c.917+12C>Tnot provided [RCV003811997]likely benign174181941141819411Humanname
405205930CV3116964single nucleotide variantNM_021939.4(FKBP10):c.582-18C>Tnot provided [RCV003822448]likely benign174181836441818364Humanname
405190042CV3121361single nucleotide variantNM_021939.4(FKBP10):c.582-14C>Tnot provided [RCV003820817]likely benign174181836841818368Humanname
405138556CV3125469single nucleotide variantNM_021939.4(FKBP10):c.1256+9G>Tnot provided [RCV003816576]likely benign174182047041820470Humanname
405107503CV3136248single nucleotide variantNM_021939.4(FKBP10):c.392-11C>Tnot provided [RCV003835594]likely benign174181807841818078Humanname
405080243CV3137095single nucleotide variantNM_021939.4(FKBP10):c.246-11T>Cnot provided [RCV003833994]likely benign174181704741817047Humanname
405053916CV3138428single nucleotide variantNM_021939.4(FKBP10):c.392-13T>Cnot provided [RCV003832272]likely benign174181807641818076Humanname
405021135CV3139213single nucleotide variantNM_021939.4(FKBP10):c.1063+8C>Tnot provided [RCV003829855]likely benign174181968341819683Humanname
405210332CV3146182duplicationNM_021939.4(FKBP10):c.1256+6dupnot provided [RCV003845713]likely benign174182046641820467Humanname
405165341CV3153266single nucleotide variantNM_021939.4(FKBP10):c.391+10G>Anot provided [RCV003841001]likely benign174181721341817213Humanname
405223995CV3158435single nucleotide variantNM_021939.4(FKBP10):c.582-20C>Gnot provided [RCV003863931]likely benign174181836241818362Humanname
405246382CV3162160single nucleotide variantNM_021939.4(FKBP10):c.1256+9G>Cnot provided [RCV003868679]likely benign174182047041820470Humanname
402465939CV3177383single nucleotide variantNM_021939.4(FKBP10):c.1564-9C>Tnot provided [RCV003873014]likely benign174182221441822214Humanname
405251577CV3181323single nucleotide variantNM_021939.4(FKBP10):c.1257-7C>Tnot provided [RCV003870325]likely benign174182094041820940Humanname
597769705CV3709008single nucleotide variantNM_021939.4(FKBP10):c.1400-1G>TBruck syndrome 1 [RCV005020223]likely pathogenic174182165341821653Human1name
597769695CV3709010single nucleotide variantNM_021939.4(FKBP10):c.1564-2A>TBruck syndrome 1 [RCV005020225]likely pathogenic174182222141822221Human1name
597964192CV3754296single nucleotide variantNM_021939.4(FKBP10):c.245+14G>Cnot provided [RCV005082403]likely benign174181329341813293Humanname
597956789CV3754726single nucleotide variantNM_021939.4(FKBP10):c.246-17T>Gnot provided [RCV005080576]likely benign174181704141817041Humanname
597854972CV3762618single nucleotide variantNM_021939.4(FKBP10):c.1256+1G>ABruck syndrome 1 [RCV005414298]|Osteogenesis imperfecta [RCV005088536]pathogenic|likely pathogenic174182046241820462Human2name
597872107CV3768462duplicationNM_021939.4(FKBP10):c.581+22dupnot provided [RCV005122841]likely benign174181829741818298Humanname
597939355CV3775327single nucleotide variantNM_021939.4(FKBP10):c.1564-4C>Tnot provided [RCV005118153]likely benign174182221941822219Humanname
597969277CV3821453single nucleotide variantNM_021939.4(FKBP10):c.246-13C>Tnot provided [RCV005166095]likely benign174181704541817045Humanname
597887619CV3859357single nucleotide variantNM_021939.4(FKBP10):c.917+10G>Cnot provided [RCV005200013]likely benign174181940941819409Humanname
13516789CV488636single nucleotide variantNM_021939.4(FKBP10):c.1063+6G>Anot provided [RCV000595967]uncertain significance174181968141819681Humanname
13527384CV506811single nucleotide variantNM_021939.4(FKBP10):c.245+18C>Tnot provided [RCV002066664]|not specified [RCV000599736]benign174181329741813297Humanname
14741344CV667907single nucleotide variantNM_021939.4(FKBP10):c.582-11A>Gnot provided [RCV000840743]likely benign174181837141818371Humanname
15154558CV760566single nucleotide variantNM_021939.4(FKBP10):c.1063+7G>Anot provided [RCV000924283]likely benign174181968241819682Humanname
15134528CV776302single nucleotide variantNM_021939.4(FKBP10):c.1256+8C>GBruck syndrome 1 [RCV001332421]|FKBP10-related disorder [RCV003978123]|not provided [RCV000942760]likely benign|uncertain significance174182046941820469Human2name , trait , alternate_id
28902324CV880517single nucleotide variantNM_021939.4(FKBP10):c.1400-6C>TOsteogenesis imperfecta type 11 [RCV001125168]|not provided [RCV003769207]likely benign|uncertain significance174182164841821648Human1name
127317713CV1157965deletionNM_021939.4(FKBP10):c.1256+17delOsteogenesis imperfecta [RCV002276756]|not provided [RCV001521265]benign|uncertain significance174182047041820470Human1name
150336248CV1172996duplicationNM_021939.4(FKBP10):c.728-236dupnot provided [RCV001540908]benign174181895541818956Humanname
150406656CV1178159single nucleotide variantNM_021939.4(FKBP10):c.728-255C>Anot provided [RCV001545320]likely benign174181895541818955Humanname
150427879CV1188535single nucleotide variantNM_021939.4(FKBP10):c.1399+84A>Cnot provided [RCV001561510]likely benign174182117341821173Humanname
150420988CV1195197duplicationNM_021939.4(FKBP10):c.392-138dupnot provided [RCV001570356]likely benign174181793941817940Humanname
150491015CV1239211single nucleotide variantNM_021939.4(FKBP10):c.728-159T>Cnot provided [RCV001654779]benign174181905141819051Humanname
151786701CV1478944single nucleotide variantNM_021939.4(FKBP10):c.1256+14G>Tnot provided [RCV002046684]likely benign|uncertain significance174182047541820475Humanname
152038054CV1525021single nucleotide variantNM_021939.4(FKBP10):c.1256+17G>Anot provided [RCV002165270]likely benign174182047841820478Humanname
152077873CV1561017duplicationNM_021939.4(FKBP10):c.1399+10dupnot provided [RCV002112352]likely benign174182109841821099Humanname
152086937CV1571512single nucleotide variantNM_021939.4(FKBP10):c.1256+19C>Tnot provided [RCV002131544]likely benign174182048041820480Humanname
152174975CV1572813single nucleotide variantNM_021939.4(FKBP10):c.1256+16G>Tnot provided [RCV002144623]likely benign174182047741820477Humanname
152084349CV1577022single nucleotide variantNM_021939.4(FKBP10):c.1256+16G>Anot provided [RCV002193432]likely benign174182047741820477Humanname
152100119CV1595692single nucleotide variantNM_021939.4(FKBP10):c.1064-15C>Tnot provided [RCV002213892]likely benign174182025441820254Humanname
152072271CV1609360single nucleotide variantNM_021939.4(FKBP10):c.1256+20G>Anot provided [RCV002129762]|not specified [RCV004587306]benign|likely benign174182048141820481Humanname
152088123CV1626092single nucleotide variantNM_021939.4(FKBP10):c.1256+13G>Cnot provided [RCV002131705]likely benign174182047441820474Humanname
152107457CV1657316single nucleotide variantNM_021939.4(FKBP10):c.1563+14C>Gnot provided [RCV002215010]likely benign174182183141821831Humanname
156385668CV1961217single nucleotide variantNM_021939.4(FKBP10):c.1256+13G>Tnot provided [RCV002583464]likely benign174182047441820474Humanname
156068153CV1975529single nucleotide variantNM_021939.4(FKBP10):c.1256+12G>Cnot provided [RCV002591192]likely benign174182047341820473Humanname
156167848CV2019821single nucleotide variantNM_021939.4(FKBP10):c.1399+11G>Anot provided [RCV002710392]likely benign174182110041821100Humanname
405047958CV2886654single nucleotide variantNM_021939.4(FKBP10):c.1256+18C>Tnot provided [RCV003579585]likely benign174182047941820479Humanname
405172430CV2897522single nucleotide variantNM_021939.4(FKBP10):c.1064-15C>Gnot provided [RCV003563161]likely benign174182025441820254Humanname
405014521CV2930450single nucleotide variantNM_021939.4(FKBP10):c.1064-19T>Anot provided [RCV003577024]likely benign174182025041820250Humanname
405079583CV2945486single nucleotide variantNM_021939.4(FKBP10):c.1064-14C>Tnot provided [RCV003664489]likely benign174182025541820255Humanname
405237039CV2973482single nucleotide variantNM_021939.4(FKBP10):c.1399+17A>Gnot provided [RCV003683185]likely benign174182110641821106Humanname
405230851CV2988200single nucleotide variantNM_021939.4(FKBP10):c.1564-10C>Tnot provided [RCV003711495]likely benign174182221341822213Humanname
405074339CV3034546deletionNM_021939.4(FKBP10):c.1564-17delnot provided [RCV003698435]likely benign174182220541822205Humanname
405254679CV3055285single nucleotide variantNM_021939.4(FKBP10):c.1257-10T>Cnot provided [RCV003722979]likely benign174182093741820937Humanname
404984010CV3121670single nucleotide variantNM_021939.4(FKBP10):c.1564-19C>Tnot provided [RCV003826469]likely benign174182220441822204Humanname
405206581CV3126709single nucleotide variantNM_021939.4(FKBP10):c.1064-18C>Anot provided [RCV003822643]likely benign174182025141820251Humanname
405032331CV3130309single nucleotide variantNM_021939.4(FKBP10):c.1256+12G>Anot provided [RCV003830716]likely benign174182047341820473Humanname
405111088CV3133144single nucleotide variantNM_021939.4(FKBP10):c.1256+18C>Gnot provided [RCV003836130]likely benign174182047941820479Humanname
405038549CV3140919single nucleotide variantNM_021939.4(FKBP10):c.1064-20C>Tnot provided [RCV003831212]likely benign174182024941820249Humanname
405230946CV3157305single nucleotide variantNM_021939.4(FKBP10):c.1063+20A>Tnot provided [RCV003865255]likely benign174181969541819695Humanname
405182371CV3159617single nucleotide variantNM_021939.4(FKBP10):c.1563+17T>Cnot provided [RCV003858868]likely benign174182183441821834Humanname
405149699CV3162807single nucleotide variantNM_021939.4(FKBP10):c.1256+13G>Anot provided [RCV003856250]likely benign174182047441820474Humanname
402500380CV3170446single nucleotide variantNM_021939.4(FKBP10):c.1399+17A>Tnot provided [RCV003877818]likely benign174182110641821106Humanname
11625525CV338382single nucleotide variantNM_021939.4(FKBP10):c.1256+14G>CBruck syndrome 1 [RCV002502251]|Osteogenesis imperfecta type 11 [RCV000400086]|not provided [RCV000832551]benign|likely benign174182047541820475Human2name
11622551CV338383duplicationNM_021939.4(FKBP10):c.1256+17dupBruck syndrome 1 [RCV002495018]|Osteogenesis Imperfecta, Recessive [RCV000361469]|Osteogenesis imperfecta [RCV002278490]|not provided [RCV001675816]|not specified [RCV000615629]benign|likely benign|no classifications from unflagged records174182046941820470Human2name
597960321CV3756180single nucleotide variantNM_021939.4(FKBP10):c.1256+15G>Tnot provided [RCV005081497]likely benign174182047641820476Humanname
597916945CV3767768single nucleotide variantNM_021939.4(FKBP10):c.1399+10T>Cnot provided [RCV005114569]likely benign174182109941821099Humanname
14713492CV667906single nucleotide variantNM_021939.4(FKBP10):c.391+181T>Cnot provided [RCV000828733]benign174181738441817384Humanname
14727198CV667913single nucleotide variantNM_021939.4(FKBP10):c.1063+97G>Anot provided [RCV000834206]benign174181977241819772Humanname
14744568CV668833single nucleotide variantNM_021939.4(FKBP10):c.728-298C>Tnot provided [RCV000842843]benign174181891241818912Humanname
14719290CV668836single nucleotide variantNM_021939.4(FKBP10):c.728-276T>Cnot provided [RCV000830709]benign174181893441818934Humanname
14727201CV668998single nucleotide variantNM_021939.4(FKBP10):c.1400-44C>Tnot provided [RCV000834207]benign174182161041821610Humanname
14744565CV669283single nucleotide variantNM_021939.4(FKBP10):c.246-245A>Gnot provided [RCV000842841]benign174181681341816813Humanname
15040576CV682343deletionNM_021939.4(FKBP10):c.1399+51delOsteogenesis imperfecta type 11 [RCV000855751]|not provided [RCV001712793]benign|likely benign174182111241821112Human1name
28908344CV880515single nucleotide variantNM_021939.4(FKBP10):c.1256+11G>AOsteogenesis imperfecta type 11 [RCV001128131]|not provided [RCV002556801]likely benign|uncertain significance174182047241820472Human1name
28908345CV880516single nucleotide variantNM_021939.4(FKBP10):c.1256+11G>TOsteogenesis imperfecta type 11 [RCV001128132]|not provided [RCV002558258]likely benign|uncertain significance174182047241820472Human1name
41405449CV982085single nucleotide variantNM_021939.4(FKBP10):c.1256+11G>Cnot provided [RCV001813001]|not specified [RCV005408802]likely benign174182047241820472Humanname
150337557CV1172997single nucleotide variantNM_021939.4(FKBP10):c.1064-250G>Anot provided [RCV001541725]benign174182001941820019Humanname
150468581CV1218934single nucleotide variantNM_021939.4(FKBP10):c.1257-130G>Anot provided [RCV001614686]benign174182081741820817Humanname
11656408CV328424microsatelliteNM_021939.4(FKBP10):c.*363CTTT[1]Osteogenesis Imperfecta, Recessive [RCV000333167]uncertain significance174182277041822773Humanname
14714700CV667919single nucleotide variantNM_021939.4(FKBP10):c.1256+164G>Anot provided [RCV000829124]benign174182062541820625Humanname
14744590CV668842single nucleotide variantNM_021939.4(FKBP10):c.1400-172A>Gnot provided [RCV000842855]benign174182148241821482Humanname
11629642CV345864inversionNM_021939.4(FKBP10):c.*421_*422invOsteogenesis Imperfecta, Recessive [RCV000329867]uncertain significance174182282941822830Humanname
11664417CV345866deletionNM_021939.4(FKBP10):c.*610_*612delOsteogenesis Imperfecta, Recessive [RCV000405286]benign174182301641823018Human1name
150427673CV1188534single nucleotide variantNM_021939.4(FKBP10):c.15C>A (p.Gly5=)not provided [RCV001561244]likely benign174181304941813049Humanname
156040299CV2089609deletionNM_021939.4(FKBP10):c.9del (p.Ala4fs)not provided [RCV002867415]pathogenic174181304041813040Humanname
11640136CV270858single nucleotide variantNM_021939.4(FKBP10):c.21C>T (p.Pro7=)Osteogenesis imperfecta type 11 [RCV000844865]|not provided [RCV000333394]benign|conflicting interpretations of pathogenicity|uncertain significance174181305541813055Human1name
402485372CV3002215single nucleotide variantNM_021939.4(FKBP10):c.21C>A (p.Pro7=)not provided [RCV003687001]likely benign174181305541813055Humanname
405038252CV3013455single nucleotide variantNM_021939.4(FKBP10):c.18C>T (p.Pro6=)not provided [RCV003696121]likely benign174181305241813052Humanname
405156001CV3028147single nucleotide variantNM_021939.4(FKBP10):c.21C>G (p.Pro7=)not provided [RCV003703621]likely benign174181305541813055Humanname
405164660CV3059455single nucleotide variantNM_021939.4(FKBP10):c.15C>T (p.Gly5=)not provided [RCV003727346]likely benign174181304941813049Humanname
151352598CV1321671single nucleotide variantNM_021939.4(FKBP10):c.81G>A (p.Val27=)not provided [RCV001812555]likely benign174181311541813115Humanname
151873225CV1359499single nucleotide variantNM_021939.4(FKBP10):c.4T>A (p.Phe2Ile)not provided [RCV002019211]uncertain significance174181303841813038Humanname
151785839CV1477757duplicationNM_021939.4(FKBP10):c.21dup (p.Ser8fs)Osteogenesis imperfecta type 11 [RCV004771514]|not provided [RCV001972530]pathogenic|likely pathogenic174181304841813049Human1name
152127438CV1572085single nucleotide variantNM_021939.4(FKBP10):c.42C>T (p.Leu14=)not provided [RCV002217603]likely benign174181307641813076Humanname
152116373CV1643138single nucleotide variantNM_021939.4(FKBP10):c.48G>A (p.Leu16=)FKBP10-related disorder [RCV003950947]|not provided [RCV002216188]likely benign174181308241813082Human1name , trait , alternate_id
156086444CV2170600single nucleotide variantNM_021939.4(FKBP10):c.87G>A (p.Arg29=)not provided [RCV003038063]likely benign174181312141813121Humanname
156141462CV2177915single nucleotide variantNM_021939.4(FKBP10):c.42C>A (p.Leu14=)not provided [RCV003040051]likely benign174181307641813076Humanname
405079500CV2945476single nucleotide variantNM_021939.4(FKBP10):c.78C>T (p.Ala26=)not provided [RCV003664483]likely benign174181311241813112Humanname
405212742CV2971156duplicationNM_021939.4(FKBP10):c.14dup (p.Ser8fs)not provided [RCV003679622]pathogenic174181304541813046Humanname
405195149CV2975264single nucleotide variantNM_021939.4(FKBP10):c.93G>A (p.Leu31=)not provided [RCV003677512]likely benign174181312741813127Humanname
405118811CV3030549deletionNM_021939.4(FKBP10):c.917+16_917+17delnot provided [RCV003700531]likely benign174181941441819415Humanname
405210927CV3059071single nucleotide variantNM_021939.4(FKBP10):c.61C>T (p.Leu21=)not provided [RCV003731996]likely benign174181309541813095Humanname
405205651CV3068267single nucleotide variantNM_021939.4(FKBP10):c.30C>T (p.Ser10=)not provided [RCV003731298]likely benign174181306441813064Humanname
405135788CV3160278single nucleotide variantNM_021939.4(FKBP10):c.45C>G (p.Pro15=)not provided [RCV003855093]likely benign174181307941813079Humanname
405251561CV3181309single nucleotide variantNM_021939.4(FKBP10):c.90G>T (p.Gly30=)not provided [RCV003870311]likely benign174181312441813124Humanname
14746703CV671989single nucleotide variantNM_021939.4(FKBP10):c.99C>A (p.Arg33=)Osteogenesis imperfecta type 11 [RCV000844866]benign174181313341813133Human1name
150407881CV1191955deletionNM_021939.4(FKBP10):c.246-113_246-91delnot provided [RCV001565140]likely benign174181694541816967Humanname
151862301CV1420176single nucleotide variantNM_021939.4(FKBP10):c.285G>A (p.Val95=)not provided [RCV001980277]likely benign|uncertain significance174181709741817097Humanname
152081310CV1554646single nucleotide variantNM_021939.4(FKBP10):c.186G>A (p.Gly62=)not provided [RCV002193053]likely benign174181322041813220Humanname
152115448CV1637186single nucleotide variantNM_021939.4(FKBP10):c.237T>C (p.Phe79=)not provided [RCV002216068]likely benign174181327141813271Humanname
156322918CV1976293single nucleotide variantNM_021939.4(FKBP10):c.16C>G (p.Pro6Ala)not provided [RCV002600348]uncertain significance174181305041813050Humanname
405048151CV2886692single nucleotide variantNM_021939.4(FKBP10):c.180G>A (p.Gln60=)not provided [RCV003579598]likely benign174181321441813214Humanname
405148519CV2891797single nucleotide variantNM_021939.4(FKBP10):c.210C>T (p.Asn70=)not provided [RCV003561553]likely benign174181324441813244Humanname
405221148CV2912684single nucleotide variantNM_021939.4(FKBP10):c.261C>G (p.Thr87=)not provided [RCV003568377]likely benign174181707341817073Humanname
402504865CV2947524single nucleotide variantNM_021939.4(FKBP10):c.249T>C (p.Tyr83=)not provided [RCV003661963]likely benign174181706141817061Humanname
405239924CV2989933single nucleotide variantNM_021939.4(FKBP10):c.207C>T (p.Tyr69=)not provided [RCV003683841]likely benign174181324141813241Humanname
402514829CV2995817single nucleotide variantNM_021939.4(FKBP10):c.186G>T (p.Gly62=)not provided [RCV003689848]likely benign174181322041813220Humanname
405224274CV3035932single nucleotide variantNM_021939.4(FKBP10):c.138C>A (p.Ile46=)not provided [RCV003710424]likely benign174181317241813172Humanname
405243551CV3071914single nucleotide variantNM_021939.4(FKBP10):c.279G>A (p.Val93=)not provided [RCV003737826]likely benign174181709141817091Humanname
405018238CV3135327single nucleotide variantNM_021939.4(FKBP10):c.150C>T (p.His50=)not provided [RCV003829598]likely benign174181318441813184Humanname
405187185CV3156492single nucleotide variantNM_021939.4(FKBP10):c.168C>G (p.Pro56=)not provided [RCV003859370]likely benign174181320241813202Humanname
597956171CV3787291single nucleotide variantNM_021939.4(FKBP10):c.162C>T (p.Ala54=)not provided [RCV005122176]likely benign174181319641813196Humanname
597904758CV3793345single nucleotide variantNM_021939.4(FKBP10):c.117C>T (p.Gly39=)not provided [RCV005153313]likely benign174181315141813151Humanname
13521981CV493860single nucleotide variantNM_021939.4(FKBP10):c.174A>G (p.Glu58=)not provided [RCV000591155]|not specified [RCV004782467]likely benign|conflicting interpretations of pathogenicity|uncertain significance174181320841813208Humanname
150467739CV1240928deletionNM_021939.4(FKBP10):c.1399+49_1399+51delnot provided [RCV001650386]benign174182111241821114Humanname
150443987CV1264668deletionNM_021939.4(FKBP10):c.1399+48_1399+51delnot provided [RCV001679652]benign174182111241821115Humanname
150478791CV1273357duplicationNM_021939.4(FKBP10):c.728-237_728-236dupnot provided [RCV001696560]benign174181895541818956Humanname
150488726CV1284084deletionNM_021939.4(FKBP10):c.1399+50_1399+51delnot provided [RCV001716151]benign174182111241821113Humanname
151726398CV1339690single nucleotide variantNM_021939.4(FKBP10):c.507C>T (p.Arg169=)not provided [RCV002004311]likely benign|uncertain significance174181820441818204Humanname
151724442CV1369828single nucleotide variantNM_021939.4(FKBP10):c.83G>A (p.Gly28Glu)Inborn genetic diseases [RCV004616870]|not provided [RCV001945341]uncertain significance174181311741813117Human1name
151788569CV1376996single nucleotide variantNM_021939.4(FKBP10):c.831C>A (p.Pro277=)not provided [RCV001897952]likely benign|uncertain significance174181931341819313Humanname
151884743CV1452743single nucleotide variantNM_021939.4(FKBP10):c.86G>A (p.Arg29Lys)not provided [RCV002037615]uncertain significance174181312041813120Humanname
152061370CV1558368single nucleotide variantNM_021939.4(FKBP10):c.651G>A (p.Gly217=)not provided [RCV002128380]likely benign174181845141818451Humanname
152083759CV1576883single nucleotide variantNM_021939.4(FKBP10):c.879C>T (p.Tyr293=)not provided [RCV002193361]likely benign174181936141819361Humanname
152150864CV1595371single nucleotide variantNM_021939.4(FKBP10):c.972C>T (p.Pro324=)not provided [RCV002201944]likely benign174181958441819584Humanname
152143820CV1596818single nucleotide variantNM_021939.4(FKBP10):c.897C>T (p.Asp299=)not provided [RCV002157119]likely benign174181937941819379Humanname
152175453CV1614292single nucleotide variantNM_021939.4(FKBP10):c.831C>T (p.Pro277=)not provided [RCV002163588]likely benign174181931341819313Humanname
152079953CV1620636single nucleotide variantNM_021939.4(FKBP10):c.426C>T (p.Phe142=)not provided [RCV002112611]benign|likely benign174181812341818123Humanname
152088024CV1628655single nucleotide variantNM_021939.4(FKBP10):c.831C>G (p.Pro277=)not provided [RCV002171457]likely benign174181931341819313Humanname
152152567CV1631097single nucleotide variantNM_021939.4(FKBP10):c.481T>C (p.Leu161=)not provided [RCV002139744]likely benign174181817841818178Humanname
152120431CV1662009deletionNM_021939.4(FKBP10):c.1256+16_1256+17delnot provided [RCV002117783]benign174182047041820471Humanname
153347061CV1694395single nucleotide variantNM_021939.4(FKBP10):c.915C>T (p.Ser305=)Osteogenesis imperfecta [RCV002277792]|not provided [RCV003774895]likely benign|uncertain significance174181939741819397Human1name
10051605CV193669single nucleotide variantNM_021939.4(FKBP10):c.504C>T (p.Pro168=)Osteogenesis imperfecta type 11 [RCV001125053]|not provided [RCV000757297]|not specified [RCV000177327]benign|likely benign174181820141818201Human1name
156436822CV1936690single nucleotide variantNM_021939.4(FKBP10):c.576C>T (p.Asp192=)not provided [RCV003106346]likely benign174181827341818273Humanname
156397227CV1980698single nucleotide variantNM_021939.4(FKBP10):c.603T>C (p.Tyr201=)not provided [RCV002605245]likely benign174181840341818403Humanname
156404478CV1993346single nucleotide variantNM_021939.4(FKBP10):c.612C>T (p.Tyr204=)not provided [RCV002658062]likely benign174181841241818412Humanname
156317003CV2028120single nucleotide variantNM_021939.4(FKBP10):c.528T>C (p.Phe176=)not provided [RCV002716858]likely benign174181822541818225Humanname
156022359CV2082919single nucleotide variantNM_021939.4(FKBP10):c.927C>A (p.Arg309=)not provided [RCV002885017]likely benign174181953941819539Humanname
156125880CV2104120single nucleotide variantNM_021939.4(FKBP10):c.609C>A (p.Thr203=)not provided [RCV002914356]likely benign174181840941818409Humanname
156257021CV2113459single nucleotide variantNM_021939.4(FKBP10):c.549C>T (p.Gly183=)not provided [RCV002933746]|not specified [RCV005239551]likely benign174181824641818246Humanname
156005904CV2127392single nucleotide variantNM_021939.4(FKBP10):c.465C>G (p.Thr155=)not provided [RCV002948018]likely benign174181816241818162Humanname
10449685CV215535single nucleotide variantNM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)Inborn genetic diseases [RCV004020499]|not provided [RCV000923617]|not specified [RCV000202739]likely benign|uncertain significance174181307841813078Human1name
155979535CV2157169single nucleotide variantNM_021939.4(FKBP10):c.366C>T (p.His122=)not provided [RCV003016309]likely benign174181717841817178Humanname
156194326CV2175414single nucleotide variantNM_021939.4(FKBP10):c.417C>T (p.Thr139=)not provided [RCV003057941]likely benign174181811441818114Humanname
156227603CV2222848single nucleotide variantNM_021939.4(FKBP10):c.34C>T (p.Leu12Phe)Inborn genetic diseases [RCV002767447]uncertain significance174181306841813068Human1name
11644060CV266887single nucleotide variantNM_021939.4(FKBP10):c.315C>T (p.Gly105=)not provided [RCV000405705]conflicting interpretations of pathogenicity|uncertain significance174181712741817127Humanname
402490469CV2867166single nucleotide variantNM_021939.4(FKBP10):c.513C>A (p.Val171=)not provided [RCV003544894]likely benign174181821041818210Humanname
405196199CV2868892single nucleotide variantNM_021939.4(FKBP10):c.687T>A (p.Ile229=)not provided [RCV003550857]likely benign174181848741818487Humanname
405213335CV2878840single nucleotide variantNM_021939.4(FKBP10):c.600T>G (p.Thr200=)not provided [RCV003552873]likely benign174181840041818400Humanname
405238197CV2881329single nucleotide variantNM_021939.4(FKBP10):c.849C>T (p.Ala283=)not provided [RCV003556771]likely benign174181933141819331Humanname
405225225CV2881955single nucleotide variantNM_021939.4(FKBP10):c.825C>T (p.Leu275=)not provided [RCV003554540]likely benign174181930741819307Humanname
405225374CV2882015single nucleotide variantNM_021939.4(FKBP10):c.765C>T (p.His255=)FKBP10-related disorder [RCV003909029]|not provided [RCV003554564]likely benign174181924741819247Human1name , trait , alternate_id
405153450CV2894064single nucleotide variantNM_021939.4(FKBP10):c.420C>T (p.Leu140=)not provided [RCV003561886]likely benign174181811741818117Humanname
402497887CV2906140single nucleotide variantNM_021939.4(FKBP10):c.808C>T (p.Leu270=)not provided [RCV003573689]likely benign174181929041819290Humanname
405136373CV2906924single nucleotide variantNM_021939.4(FKBP10):c.987G>A (p.Gly329=)not provided [RCV003560444]likely benign174181959941819599Humanname
402478293CV2909888single nucleotide variantNM_021939.4(FKBP10):c.372C>T (p.Gly124=)not provided [RCV003571785]likely benign174181718441817184Humanname
405209645CV2910000single nucleotide variantNM_021939.4(FKBP10):c.741C>T (p.Pro247=)not provided [RCV003566879]likely benign174181922341819223Humanname
402472349CV2912271single nucleotide variantNM_021939.4(FKBP10):c.513C>T (p.Val171=)not provided [RCV003570777]likely benign174181821041818210Humanname
405176244CV2915716single nucleotide variantNM_021939.4(FKBP10):c.988C>T (p.Leu330=)not provided [RCV003563562]likely benign174181960041819600Humanname
402511949CV2948398single nucleotide variantNM_021939.4(FKBP10):c.711T>C (p.Tyr237=)not provided [RCV003662640]likely benign174181851141818511Humanname
405168434CV2951035single nucleotide variantNM_021939.4(FKBP10):c.678A>G (p.Arg226=)not provided [RCV003675220]likely benign174181847841818478Humanname
405227893CV2963705single nucleotide variantNM_021939.4(FKBP10):c.399C>T (p.Leu133=)not provided [RCV003681744]likely benign174181809641818096Humanname
405216071CV2981669single nucleotide variantNM_021939.4(FKBP10):c.708C>G (p.Ala236=)not provided [RCV003709262]likely benign174181850841818508Humanname
404986027CV3001473single nucleotide variantNM_021939.4(FKBP10):c.318C>T (p.Leu106=)not provided [RCV003691835]likely benign174181713041817130Humanname
402525117CV3007832single nucleotide variantNM_021939.4(FKBP10):c.828C>T (p.Pro276=)not provided [RCV003716723]likely benign174181931041819310Humanname
405035698CV3016694single nucleotide variantNM_021939.4(FKBP10):c.480A>G (p.Thr160=)not provided [RCV003695924]likely benign174181817741818177Humanname
402506865CV3039210single nucleotide variantNM_021939.4(FKBP10):c.435T>G (p.Val145=)not provided [RCV003715285]likely benign174181813241818132Humanname
405092207CV3044780single nucleotide variantNM_021939.4(FKBP10):c.888C>T (p.Ser296=)not provided [RCV003717787]likely benign174181937041819370Humanname
405254314CV3045201single nucleotide variantNM_021939.4(FKBP10):c.717G>A (p.Glu239=)FKBP10-related disorder [RCV003901313]|not provided [RCV003722803]likely benign174181851741818517Human1name , trait , alternate_id
405157448CV3065109single nucleotide variantNM_021939.4(FKBP10):c.516G>A (p.Gln172=)not provided [RCV003726861]likely benign174181821341818213Humanname
405230705CV3073346single nucleotide variantNM_021939.4(FKBP10):c.594C>T (p.Gly198=)not provided [RCV003734846]likely benign174181839441818394Humanname
405007780CV3118255single nucleotide variantNM_021939.4(FKBP10):c.945C>T (p.Thr315=)not provided [RCV003828685]likely benign174181955741819557Humanname
405096037CV3119102single nucleotide variantNM_021939.4(FKBP10):c.636G>A (p.Lys212=)not provided [RCV003811553]likely benign174181843641818436Humanname
405187320CV3121197single nucleotide variantNM_021939.4(FKBP10):c.771C>T (p.Leu257=)not provided [RCV003820653]likely benign174181925341819253Humanname
405206097CV3126713single nucleotide variantNM_021939.4(FKBP10):c.909C>T (p.Phe303=)not provided [RCV003822647]likely benign174181939141819391Humanname
405122062CV3131652single nucleotide variantNM_021939.4(FKBP10):c.561C>T (p.Asp187=)not provided [RCV003837516]likely benign174181825841818258Humanname
405110367CV3133134single nucleotide variantNM_021939.4(FKBP10):c.780C>T (p.Asp260=)not provided [RCV003836120]likely benign174181926241819262Humanname
405218693CV3135743single nucleotide variantNM_021939.4(FKBP10):c.540C>T (p.His180=)not provided [RCV003824368]likely benign174181823741818237Humanname
405077748CV3136970single nucleotide variantNM_021939.4(FKBP10):c.816G>A (p.Thr272=)not provided [RCV003833868]likely benign174181929841819298Humanname
405022994CV3139349single nucleotide variantNM_021939.4(FKBP10):c.357G>C (p.Val119=)not provided [RCV003829992]likely benign174181716941817169Humanname
405215180CV3143221single nucleotide variantNM_021939.4(FKBP10):c.855C>T (p.Ala285=)not provided [RCV003846384]likely benign174181933741819337Humanname
405183162CV3147667single nucleotide variantNM_021939.4(FKBP10):c.630G>C (p.Leu210=)not provided [RCV003842569]likely benign174181843041818430Humanname
405224063CV3151226single nucleotide variantNM_021939.4(FKBP10):c.567C>G (p.Thr189=)FKBP10-related disorder [RCV003909189]|not provided [RCV003847651]likely benign174181826441818264Human1name , trait , alternate_id
405148679CV3152202single nucleotide variantNM_021939.4(FKBP10):c.798C>T (p.Asp266=)not provided [RCV003856173]likely benign174181928041819280Humanname
405162647CV3153142single nucleotide variantNM_021939.4(FKBP10):c.348C>T (p.Arg116=)not provided [RCV003840877]likely benign174181716041817160Humanname
405230123CV3153824single nucleotide variantNM_021939.4(FKBP10):c.495C>T (p.Pro165=)not provided [RCV003848691]likely benign174181819241818192Humanname
405210961CV3162744insertionNM_021939.4(FKBP10):c.1256+8_1256+9insCGnot provided [RCV003862043]likely benign174182046941820470Humanname
405201976CV3165024single nucleotide variantNM_021939.4(FKBP10):c.816G>C (p.Thr272=)not provided [RCV003860885]likely benign174181929841819298Humanname
405193827CV3167602single nucleotide variantNM_021939.4(FKBP10):c.609C>T (p.Thr203=)not provided [RCV003860008]likely benign174181840941818409Humanname
405254004CV3174930single nucleotide variantNM_021939.4(FKBP10):c.384C>T (p.Ile128=)not provided [RCV003871382]likely benign174181719641817196Humanname
404985410CV3183709single nucleotide variantNM_021939.4(FKBP10):c.618C>T (p.Gly206=)not provided [RCV003880986]likely benign174181841841818418Humanname
405779998CV3260672single nucleotide variantNM_021939.4(FKBP10):c.918C>T (p.Ser306=)Inborn genetic diseases [RCV004386607]likely benign174181953041819530Human1name
11631535CV345852single nucleotide variantNM_021939.4(FKBP10):c.573C>T (p.Phe191=)Osteogenesis imperfecta type 11 [RCV000381080]|not provided [RCV002056598]likely benign|uncertain significance174181827041818270Human1name
11632412CV345855single nucleotide variantNM_021939.4(FKBP10):c.732A>G (p.Thr244=)Osteogenesis imperfecta type 11 [RCV000844871]|not provided [RCV000959412]benign|likely benign174181921441819214Human1name
11628385CV345859single nucleotide variantNM_021939.4(FKBP10):c.825C>A (p.Leu275=)Osteogenesis imperfecta type 11 [RCV000301017]|not provided [RCV000942336]likely benign|uncertain significance174181930741819307Human1name
11629957CV345860single nucleotide variantNM_021939.4(FKBP10):c.984G>A (p.Gln328=)Osteogenesis imperfecta type 11 [RCV000337131]|not provided [RCV003765877]likely benign|uncertain significance174181959641819596Human1name
597858544CV3769642single nucleotide variantNM_021939.4(FKBP10):c.429T>C (p.Asp143=)not provided [RCV005105684]likely benign174181812641818126Humanname
617151137CV4021861single nucleotide variantNM_021939.4(FKBP10):c.951C>T (p.Ile317=)not provided [RCV005426822]likely benign174181956341819563Humanname
13535157CV506317single nucleotide variantNM_021939.4(FKBP10):c.828C>G (p.Pro276=)not specified [RCV000607575]likely benign174181931041819310Humanname
13530892CV506813single nucleotide variantNM_021939.4(FKBP10):c.537C>T (p.Tyr179=)not provided [RCV003767675]|not specified [RCV000600869]likely benign174181823441818234Humanname
13532239CV512281single nucleotide variantNM_021939.4(FKBP10):c.77C>T (p.Ala26Val)Inborn genetic diseases [RCV000624025]uncertain significance174181311141813111Human1name
14746705CV671993single nucleotide variantNM_021939.4(FKBP10):c.363C>T (p.Pro121=)Osteogenesis imperfecta type 11 [RCV000844868]|not provided [RCV003660836]benign|likely benign174181717541817175Human1name
14746706CV671995single nucleotide variantNM_021939.4(FKBP10):c.492G>A (p.Pro164=)Osteogenesis imperfecta type 11 [RCV000844869]|not provided [RCV000913221]benign|likely benign174181818941818189Human1name
14746707CV671996single nucleotide variantNM_021939.4(FKBP10):c.906C>A (p.Leu302=)Osteogenesis imperfecta type 11 [RCV000844872]benign174181938841819388Human1name
15145307CV740742single nucleotide variantNM_021939.4(FKBP10):c.420C>G (p.Leu140=)not provided [RCV000900141]likely benign174181811741818117Humanname
15155318CV740743single nucleotide variantNM_021939.4(FKBP10):c.615C>T (p.Val205=)not provided [RCV000902118]likely benign174181841541818415Humanname
15109871CV755833single nucleotide variantNM_021939.4(FKBP10):c.309C>T (p.Asp103=)Osteogenesis imperfecta [RCV002279635]|not provided [RCV000916420]likely benign|uncertain significance174181712141817121Human1name
15147243CV755834single nucleotide variantNM_021939.4(FKBP10):c.519C>T (p.Asp173=)not provided [RCV000922868]likely benign174181821641818216Humanname
21406366CV800032single nucleotide variantNM_021939.4(FKBP10):c.942T>C (p.Asn314=)Osteogenesis imperfecta [RCV002279702]|Osteogenesis imperfecta type 11 [RCV001128130]|not provided [RCV002068797]|not specified [RCV001002571]likely benign|uncertain significance174181955441819554Human2name
28902012CV877483single nucleotide variantNM_021939.4(FKBP10):c.393G>A (p.Ala131=)FKBP10-related disorder [RCV003938476]|Osteogenesis imperfecta [RCV002276630]|Osteogenesis imperfecta type 11 [RCV001125050]|not provided [RCV003117771]benign|likely benign|uncertain significance174181809041818090Human2name , trait , alternate_id
28902015CV877484single nucleotide variantNM_021939.4(FKBP10):c.408G>A (p.Pro136=)Osteogenesis imperfecta type 11 [RCV001125051]|not provided [RCV002307688]uncertain significance174181810541818105Human1name
28904301CV877486single nucleotide variantNM_021939.4(FKBP10):c.522C>T (p.Gly174=)Osteogenesis imperfecta type 11 [RCV001126028]|not provided [RCV003546636]likely benign|uncertain significance174181821941818219Human1name
28904304CV877487single nucleotide variantNM_021939.4(FKBP10):c.591G>A (p.Lys197=)Osteogenesis imperfecta type 11 [RCV001126029]|not provided [RCV003679039]likely benign|uncertain significance174181839141818391Human1name
28904312CV877489single nucleotide variantNM_021939.4(FKBP10):c.792G>A (p.Pro264=)Osteogenesis imperfecta type 11 [RCV001126031]|not provided [RCV002070060]likely benign|uncertain significance174181927441819274Human1name
150425239CV1185254single nucleotide variantNM_021939.4(FKBP10):c.209A>G (p.Asn70Ser)not provided [RCV001557747]uncertain significance174181324341813243Humanname
150460960CV1275894insertionNM_021939.4(FKBP10):c.727+296_727+297insCnot provided [RCV001709832]benign174181882341818824Humanname
151798742CV1376694single nucleotide variantNM_021939.4(FKBP10):c.131T>C (p.Val44Ala)not provided [RCV001932108]uncertain significance174181316541813165Humanname
151773618CV1402198single nucleotide variantNM_021939.4(FKBP10):c.113G>A (p.Gly38Glu)not provided [RCV001929764]uncertain significance174181314741813147Humanname
151768520CV1409545single nucleotide variantNM_021939.4(FKBP10):c.289C>T (p.Arg97Cys)not provided [RCV001896103]uncertain significance174181710141817101Humanname
151729120CV1416421single nucleotide variantNM_021939.4(FKBP10):c.1545C>T (p.Gly515=)not provided [RCV002004588]uncertain significance174182179941821799Humanname
151861112CV1423149single nucleotide variantNM_021939.4(FKBP10):c.205T>C (p.Tyr69His)not provided [RCV001980132]uncertain significance174181323941813239Humanname
151724051CV1436987single nucleotide variantNM_021939.4(FKBP10):c.215C>T (p.Thr72Ile)not provided [RCV002004048]uncertain significance174181324941813249Humanname
151825749CV1453054single nucleotide variantNM_021939.4(FKBP10):c.115G>A (p.Gly39Ser)Inborn genetic diseases [RCV003164016]|not provided [RCV002050236]uncertain significance174181314941813149Human1name
151790341CV1515345single nucleotide variantNM_021939.4(FKBP10):c.172G>A (p.Glu58Lys)not provided [RCV002027162]uncertain significance174181320641813206Humanname
152100134CV1524746single nucleotide variantNM_021939.4(FKBP10):c.1692C>T (p.Val564=)not provided [RCV002172987]likely benign174182235141822351Humanname
152133679CV1547274single nucleotide variantNM_021939.4(FKBP10):c.1479C>T (p.Tyr493=)FKBP10-related disorder [RCV003903568]|not provided [RCV002155865]likely benign174182173341821733Human1name , trait , alternate_id
152071698CV1549195single nucleotide variantNM_021939.4(FKBP10):c.1086C>T (p.Ala362=)not provided [RCV002091675]likely benign174182029141820291Humanname
152106356CV1612796single nucleotide variantNM_021939.4(FKBP10):c.1425G>A (p.Val475=)not provided [RCV002173770]likely benign174182167941821679Humanname
152047607CV1619933single nucleotide variantNM_021939.4(FKBP10):c.1476C>T (p.Gly492=)not provided [RCV002207106]likely benign174182173041821730Humanname
152038097CV1625002single nucleotide variantNM_021939.4(FKBP10):c.1029C>A (p.Ile343=)not provided [RCV002205923]likely benign174181964141819641Humanname
152067032CV1636776single nucleotide variantNM_021939.4(FKBP10):c.1377C>T (p.His459=)not provided [RCV002110928]likely benign174182106741821067Humanname
152979582CV1675640single nucleotide variantNM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)Bruck syndrome 1 [RCV002244230]likely pathogenic174181321341813213Human1name
152999280CV1679489single nucleotide variantNM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)Bruck syndrome 1 [RCV002250878]pathogenic174181315841813158Human1name
10045121CV188882deletionNM_021939.4(FKBP10):c.354del (p.Ile118fs)Osteogenesis imperfecta [RCV004798795]|not provided [RCV000171256]likely pathogenic174181716541817165Human1name
155966300CV1892181single nucleotide variantNM_021939.4(FKBP10):c.1371C>T (p.Pro457=)not provided [RCV003074948]likely benign174182106141821061Humanname
156368365CV1904930single nucleotide variantNM_021939.4(FKBP10):c.1236C>T (p.Asp412=)not provided [RCV002582237]likely benign174182044141820441Humanname
156152293CV1961121single nucleotide variantNM_021939.4(FKBP10):c.1557G>A (p.Pro519=)not provided [RCV002572937]likely benign174182181141821811Humanname
156325542CV1972674insertionNM_021939.4(FKBP10):c.1256+10_1256+11insCnot provided [RCV002600505]likely benign174182047141820472Humanname
156044193CV1977963single nucleotide variantNM_021939.4(FKBP10):c.1444C>T (p.Leu482=)not provided [RCV002590438]likely benign174182169841821698Humanname
156290284CV1998169single nucleotide variantNM_021939.4(FKBP10):c.1266C>T (p.Tyr422=)not provided [RCV002647165]likely benign174182095641820956Humanname
156085633CV2008752single nucleotide variantNM_021939.4(FKBP10):c.1494C>T (p.His498=)not provided [RCV002706136]likely benign174182174841821748Humanname
155980896CV2025150single nucleotide variantNM_021939.4(FKBP10):c.1686C>T (p.Ile562=)not provided [RCV002755321]likely benign174182234541822345Humanname
156099386CV2042112single nucleotide variantNM_021939.4(FKBP10):c.1386C>T (p.His462=)not provided [RCV002761258]likely benign174182107641821076Humanname
156126262CV2088396single nucleotide variantNM_021939.4(FKBP10):c.1263C>T (p.Asp421=)not provided [RCV002871462]likely benign174182095341820953Humanname
156353873CV2118945single nucleotide variantNM_021939.4(FKBP10):c.1722C>T (p.Asp574=)not provided [RCV002966507]likely benign174182238141822381Humanname
156333238CV2172018single nucleotide variantNM_021939.4(FKBP10):c.1044C>G (p.Ala348=)not provided [RCV003029887]likely benign174181965641819656Humanname
156166454CV2190047single nucleotide variantNM_021939.4(FKBP10):c.1536C>T (p.Asn512=)not provided [RCV003040893]likely benign174182179041821790Humanname
11040190CV223011deletionNM_021939.4(FKBP10):c.976del (p.Met326fs)Osteogenesis imperfecta type 11 [RCV000208538]|not provided [RCV002515558]pathogenic174181958841819588Human1name
156083386CV2249195single nucleotide variantNM_021939.4(FKBP10):c.112G>T (p.Gly38Trp)Inborn genetic diseases [RCV002798083]uncertain significance174181314641813146Human1name
156257421CV2277660single nucleotide variantNM_021939.4(FKBP10):c.254G>A (p.Arg85His)Inborn genetic diseases [RCV002855200]uncertain significance174181706641817066Human1name
401721009CV2737395single nucleotide variantNM_021939.4(FKBP10):c.138C>G (p.Ile46Met)Bruck syndrome 1 [RCV003314334]uncertain significance174181317241813172Human1name
402482451CV2860632single nucleotide variantNM_021939.4(FKBP10):c.1705C>T (p.Leu569=)not provided [RCV003544162]likely benign174182236441822364Humanname
402491651CV2866779single nucleotide variantNM_021939.4(FKBP10):c.1359G>A (p.Gln453=)not provided [RCV003573013]likely benign174182104941821049Humanname
405162070CV2895310insertionNM_021939.4(FKBP10):c.1256+10_1256+11insTnot provided [RCV003562467]likely benign174182047141820472Humanname
405222898CV2908543single nucleotide variantNM_021939.4(FKBP10):c.1602A>G (p.Lys534=)not provided [RCV003568704]likely benign174182226141822261Humanname
405179508CV2913218single nucleotide variantNM_021939.4(FKBP10):c.1470C>T (p.Pro490=)not provided [RCV003563810]likely benign174182172441821724Humanname
402476049CV2916886single nucleotide variantNM_021939.4(FKBP10):c.1116C>T (p.Asp372=)not provided [RCV003571441]likely benign174182032141820321Humanname
402482036CV2921689single nucleotide variantNM_021939.4(FKBP10):c.1728G>A (p.Glu576=)not provided [RCV003572186]likely benign174182238741822387Humanname
405013298CV2930201single nucleotide variantNM_021939.4(FKBP10):c.1464G>A (p.Gly488=)not provided [RCV003576923]likely benign174182171841821718Humanname
405070375CV2936912single nucleotide variantNM_021939.4(FKBP10):c.1260T>C (p.His420=)not provided [RCV003659309]likely benign174182095041820950Humanname
405100566CV2938324single nucleotide variantNM_021939.4(FKBP10):c.1452C>T (p.Ser484=)not provided [RCV003665931]likely benign174182170641821706Humanname
405160851CV2951286single nucleotide variantNM_021939.4(FKBP10):c.1509C>T (p.Ala503=)not provided [RCV003670718]likely benign174182176341821763Humanname
405174901CV2955485single nucleotide variantNM_021939.4(FKBP10):c.1332G>A (p.Gln444=)not provided [RCV003675666]likely benign174182102241821022Humanname
405148229CV2960099single nucleotide variantNM_021939.4(FKBP10):c.1134T>C (p.Asp378=)not provided [RCV003669810]likely benign174182033941820339Humanname
405124563CV2961556single nucleotide variantNM_021939.4(FKBP10):c.1101C>T (p.Asn367=)not provided [RCV003667730]likely benign174182030641820306Humanname
405136890CV2963180single nucleotide variantNM_021939.4(FKBP10):c.1188C>T (p.Thr396=)not provided [RCV003668865]likely benign174182039341820393Humanname
405185189CV2963824single nucleotide variantNM_021939.4(FKBP10):c.1041C>T (p.Leu347=)not provided [RCV003676680]likely benign174181965341819653Humanname
405212422CV2971089single nucleotide variantNM_021939.4(FKBP10):c.1281G>A (p.Glu427=)not provided [RCV003679584]likely benign174182097141820971Humanname
405244722CV2972608single nucleotide variantNM_021939.4(FKBP10):c.1446G>C (p.Leu482=)not provided [RCV003684931]likely benign174182170041821700Humanname
405240934CV2973928single nucleotide variantNM_021939.4(FKBP10):c.1701C>G (p.Leu567=)not provided [RCV003683969]likely benign174182236041822360Humanname
405212896CV2974467single nucleotide variantNM_021939.4(FKBP10):c.1569C>A (p.Ser523=)not provided [RCV003679559]likely benign174182222841822228Humanname
405200935CV2978928single nucleotide variantNM_021939.4(FKBP10):c.1365C>T (p.Ile455=)not provided [RCV003678176]likely benign174182105541821055Humanname
405009645CV2986934single nucleotide variantNM_021939.4(FKBP10):c.1275C>T (p.Pro425=)not provided [RCV003693872]likely benign174182096541820965Humanname
402525370CV3015134single nucleotide variantNM_021939.4(FKBP10):c.1356G>T (p.Arg452=)not provided [RCV003690554]likely benign174182104641821046Humanname
405143266CV3023145single nucleotide variantNM_021939.4(FKBP10):c.1443G>A (p.Glu481=)not provided [RCV003702705]likely benign174182169741821697Humanname
405158039CV3024758single nucleotide variantNM_021939.4(FKBP10):c.1617T>C (p.Pro539=)not provided [RCV003703766]likely benign174182227641822276Humanname
405207541CV3036996single nucleotide variantNM_021939.4(FKBP10):c.1719G>A (p.Glu573=)not provided [RCV003708200]likely benign174182237841822378Humanname
405242727CV3043039single nucleotide variantNM_021939.4(FKBP10):c.1737C>T (p.His579=)not provided [RCV003719568]likely benign174182239641822396Humanname
405210921CV3059070single nucleotide variantNM_021939.4(FKBP10):c.1465C>T (p.Leu489=)not provided [RCV003731995]likely benign174182171941821719Humanname
405226041CV3059249single nucleotide variantNM_021939.4(FKBP10):c.1695C>T (p.Asp565=)not provided [RCV003734063]likely benign174182235441822354Humanname
405158998CV3061649single nucleotide variantNM_021939.4(FKBP10):c.1218C>T (p.Tyr406=)not provided [RCV003726961]likely benign174182042341820423Humanname
405041760CV3064065single nucleotide variantNM_021939.4(FKBP10):c.1677C>T (p.Asp559=)not provided [RCV003739951]likely benign174182233641822336Humanname
405240199CV3064283single nucleotide variantNM_021939.4(FKBP10):c.1272C>T (p.Ala424=)not provided [RCV003737079]likely benign174182096241820962Humanname
405210975CV3117743single nucleotide variantNM_021939.4(FKBP10):c.1194T>C (p.Leu398=)not provided [RCV003823342]likely benign174182039941820399Humanname
404983047CV3121543single nucleotide variantNM_021939.4(FKBP10):c.1050G>A (p.Gly350=)not provided [RCV003826342]likely benign174181966241819662Humanname
405117014CV3134275single nucleotide variantNM_021939.4(FKBP10):c.1596G>A (p.Glu532=)not provided [RCV003836877]likely benign174182225541822255Humanname
402519478CV3135960single nucleotide variantNM_021939.4(FKBP10):c.1620G>C (p.Gly540=)not provided [RCV003824586]likely benign174182227941822279Humanname
405083086CV3137559single nucleotide variantNM_021939.4(FKBP10):c.1449G>C (p.Val483=)not provided [RCV003834268]likely benign174182170341821703Humanname
405088693CV3138139single nucleotide variantNM_021939.4(FKBP10):c.1032C>G (p.Pro344=)not provided [RCV003834657]likely benign174181964441819644Humanname
405199366CV3147163single nucleotide variantNM_021939.4(FKBP10):c.1284G>A (p.Ala428=)not provided [RCV003844323]likely benign174182097441820974Humanname
405050760CV3150939single nucleotide variantNM_021939.4(FKBP10):c.1090C>T (p.Leu364=)not provided [RCV003849543]likely benign174182029541820295Humanname
405050776CV3150940single nucleotide variantNM_021939.4(FKBP10):c.1278G>A (p.Gln426=)not provided [RCV003849544]likely benign174182096841820968Humanname
405155433CV3159351single nucleotide variantNM_021939.4(FKBP10):c.1671C>T (p.Asn557=)not provided [RCV003856616]likely benign174182233041822330Humanname
405238036CV3165436single nucleotide variantNM_021939.4(FKBP10):c.1272C>A (p.Ala424=)not provided [RCV003866638]likely benign174182096241820962Humanname
405236087CV3166318single nucleotide variantNM_021939.4(FKBP10):c.1035G>A (p.Pro345=)not provided [RCV003853767]likely benign174181964741819647Humanname
405236510CV3166493single nucleotide variantNM_021939.4(FKBP10):c.226G>A (p.Gly76Ser)Inborn genetic diseases [RCV004369480]|not provided [RCV003853942]uncertain significance174181326041813260Human1name
405779980CV3260669single nucleotide variantNM_021939.4(FKBP10):c.176T>C (p.Val59Ala)Inborn genetic diseases [RCV004386604]uncertain significance174181321041813210Human1name
11651200CV338381single nucleotide variantNM_021939.4(FKBP10):c.1098C>T (p.Phe366=)Osteogenesis imperfecta type 11 [RCV000297418]|not provided [RCV003765878]likely benign|uncertain significance174182030341820303Human1name
11622218CV338387single nucleotide variantNM_021939.4(FKBP10):c.1374G>A (p.Pro458=)FKBP10-related disorder [RCV003912339]|Osteogenesis imperfecta type 11 [RCV000357858]|not provided [RCV000834470]benign|likely benign|uncertain significance174182106441821064Human1name , trait , alternate_id
407502793CV3435919single nucleotide variantNM_021939.4(FKBP10):c.118C>T (p.Pro40Ser)Inborn genetic diseases [RCV004623563]uncertain significance174181315241813152Human1name
597769714CV3709006deletionNM_021939.4(FKBP10):c.743del (p.Pro248fs)Bruck syndrome 1 [RCV005020221]likely pathogenic174181922041819220Human1name
597936442CV3807645single nucleotide variantNM_021939.4(FKBP10):c.1453C>A (p.Arg485=)not provided [RCV005158024]likely benign174182170741821707Humanname
597889126CV3856018single nucleotide variantNM_021939.4(FKBP10):c.1429C>T (p.Leu477=)not provided [RCV005200263]likely benign174182168341821683Humanname
8568478CV39592duplicationNM_021939.4(FKBP10):c.743dup (p.Gln249fs)Bruck syndrome 1 [RCV000023610]|Osteogenesis imperfecta [RCV005055522]|Osteogenesis imperfecta type 11 [RCV003985074]pathogenic174181921941819220Human3name
13435630CV432334duplicationNM_021939.4(FKBP10):c.831dup (p.Gly278fs)Abnormality of the skeletal system [RCV001814173]|Bruck syndrome 1 [RCV000034358]|Bruck syndrome 1 [RCV005018866]|Osteogenesis imperfecta [RCV004798839]|Osteogenesis imperfecta type 11 [RCV000505676]|Osteogenesis imperfecta type 12 [RCV000003711]|not provided [RCV000514347]pathogenic|conflicting interpretations of pathogenicity174181930641819307Human5name
13523374CV492408single nucleotide variantNM_021939.4(FKBP10):c.1029C>T (p.Ile343=)not provided [RCV000592911]conflicting interpretations of pathogenicity|uncertain significance174181964141819641Humanname
13520972CV495422deletionNM_021939.4(FKBP10):c.831del (p.Gly278fs)Bruck syndrome 1 [RCV005019027]|Osteogenesis imperfecta type 11 [RCV003985091]|not provided [RCV000599070]pathogenic174181930741819307Human2name
8571227CV50336duplicationNM_021939.4(FKBP10):c.948dup (p.Ile317fs)Osteogenesis imperfecta type 12 [RCV000034825]|not provided [RCV003556109]pathogenic174181955941819560Human1name
13526907CV505903single nucleotide variantNM_021939.4(FKBP10):c.1734C>T (p.Val578=)FKBP10-related disorder [RCV003928010]|Osteogenesis imperfecta [RCV002279428]|not provided [RCV000882042]benign|likely benign174182239341822393Human2name , trait , alternate_id
13836659CV587937single nucleotide variantNM_021939.4(FKBP10):c.1269G>A (p.Gly423=)not provided [RCV000732840]conflicting interpretations of pathogenicity|uncertain significance174182095941820959Humanname
14746704CV671990single nucleotide variantNM_021939.4(FKBP10):c.100G>A (p.Ala34Thr)Osteogenesis imperfecta type 11 [RCV000844867]uncertain significance174181313441813134Human1name
14746700CV671991single nucleotide variantNM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)Osteogenesis imperfecta type 11 [RCV000844862]likely pathogenic174181314041813140Human1name
14746701CV671992single nucleotide variantNM_021939.4(FKBP10):c.134T>A (p.Val45Asp)Osteogenesis imperfecta type 11 [RCV000844863]likely pathogenic174181316841813168Human1name
14746708CV671997single nucleotide variantNM_021939.4(FKBP10):c.1014C>T (p.Arg338=)FKBP10-related disorder [RCV003955559]|Osteogenesis imperfecta type 11 [RCV000844873]|not provided [RCV000917122]benign|likely benign174181962641819626Human1name , trait , alternate_id
15136025CV715453single nucleotide variantNM_021939.4(FKBP10):c.1137G>A (p.Val379=)FKBP10-related disorder [RCV003935996]|Osteogenesis imperfecta [RCV002279671]|not provided [RCV000965382]benign|likely benign|uncertain significance174182034241820342Human2name , trait , alternate_id
15185935CV740744single nucleotide variantNM_021939.4(FKBP10):c.1290C>T (p.Leu430=)Osteogenesis imperfecta [RCV002279627]|Osteogenesis imperfecta type 11 [RCV001122386]|not provided [RCV000908666]|not specified [RCV004702517]likely benign|uncertain significance174182098041820980Human2name
15167012CV755835single nucleotide variantNM_021939.4(FKBP10):c.1059A>G (p.Gly353=)not provided [RCV000926995]likely benign174181967141819671Humanname
15115472CV771490single nucleotide variantNM_021939.4(FKBP10):c.1632G>A (p.Glu544=)not provided [RCV000939492]likely benign174182229141822291Humanname
28879748CV860382deletionNM_021939.4(FKBP10):c.-8_78del (p.Met1fs)not provided [RCV001090841]pathogenic174181302641813111Humanname
28902008CV877482single nucleotide variantNM_021939.4(FKBP10):c.268G>A (p.Ala90Thr)Osteogenesis imperfecta type 11 [RCV001125049]uncertain significance174181708041817080Human1name
28895206CV877491single nucleotide variantNM_021939.4(FKBP10):c.1308C>T (p.Ile436=)Osteogenesis imperfecta type 11 [RCV001122387]|not provided [RCV002069995]likely benign|uncertain significance174182099841820998Human1name
28895211CV877492single nucleotide variantNM_021939.4(FKBP10):c.1323G>A (p.Thr441=)Osteogenesis imperfecta type 11 [RCV001122388]|not provided [RCV003769187]likely benign|uncertain significance174182101341821013Human1name
126739606CV1018286single nucleotide variantNM_021939.4(FKBP10):c.921C>G (p.Tyr307Ter)Bruck syndrome 1 [RCV001329236]pathogenic174181953341819533Humanname
150528917CV1288563single nucleotide variantNM_021939.4(FKBP10):c.343C>T (p.Arg115Ter)not provided [RCV001727031]pathogenic174181715541817155Humanname
151711855CV1340937single nucleotide variantNM_021939.4(FKBP10):c.545A>G (p.Asn182Ser)not provided [RCV002002140]uncertain significance174181824241818242Humanname
151846085CV1342024single nucleotide variantNM_021939.4(FKBP10):c.532C>T (p.Arg178Cys)Inborn genetic diseases [RCV004975762]|not provided [RCV001922131]uncertain significance174181822941818229Human1name
151765011CV1387419single nucleotide variantNM_021939.4(FKBP10):c.770T>C (p.Leu257Pro)not provided [RCV001987689]uncertain significance174181925241819252Humanname
151744016CV1398268single nucleotide variantNM_021939.4(FKBP10):c.642G>A (p.Met214Ile)not provided [RCV002042528]uncertain significance174181844241818442Humanname
151791005CV1399956single nucleotide variantNM_021939.4(FKBP10):c.566C>T (p.Thr189Ile)not provided [RCV001916819]uncertain significance174181826341818263Humanname
151890972CV1473186single nucleotide variantNM_021939.4(FKBP10):c.836G>A (p.Cys279Tyr)Inborn genetic diseases [RCV003164249]|not provided [RCV001888556]uncertain significance174181931841819318Human1name
151846496CV1483789single nucleotide variantNM_021939.4(FKBP10):c.622G>A (p.Gly208Ser)not provided [RCV001903505]uncertain significance174181842241818422Humanname
151856334CV1487591single nucleotide variantNM_021939.4(FKBP10):c.832G>C (p.Gly278Arg)not provided [RCV001923444]uncertain significance174181931441819314Humanname
151778032CV1493254single nucleotide variantNM_021939.4(FKBP10):c.802G>A (p.Val268Ile)not provided [RCV001915612]uncertain significance174181928441819284Humanname
151869361CV1497675single nucleotide variantNM_021939.4(FKBP10):c.445G>A (p.Val149Met)not provided [RCV001960224]uncertain significance174181814241818142Humanname
151845830CV1501679single nucleotide variantNM_021939.4(FKBP10):c.799G>A (p.Ala267Thr)Inborn genetic diseases [RCV005331130]|not provided [RCV002015894]likely benign|uncertain significance174181928141819281Human1name
151879606CV1506312single nucleotide variantNM_021939.4(FKBP10):c.612C>G (p.Tyr204Ter)not provided [RCV001886282]pathogenic174181841241818412Humanname
151717287CV1513228single nucleotide variantNM_021939.4(FKBP10):c.450G>C (p.Trp150Cys)not provided [RCV001890525]uncertain significance174181814741818147Humanname
153305746CV1688784single nucleotide variantNM_021939.4(FKBP10):c.476G>A (p.Ser159Asn)not specified [RCV002266524]uncertain significance174181817341818173Humanname
153346738CV1692253single nucleotide variantNM_021939.4(FKBP10):c.958G>T (p.Gly320Cys)not provided [RCV002272101]uncertain significance174181957041819570Humanname
153347058CV1694393single nucleotide variantNM_021939.4(FKBP10):c.402T>G (p.Ile134Met)Osteogenesis imperfecta [RCV002277790]uncertain significance174181809941818099Human1name
153347060CV1694394single nucleotide variantNM_021939.4(FKBP10):c.677G>A (p.Arg226Lys)Inborn genetic diseases [RCV004617028]|Osteogenesis imperfecta [RCV002277791]uncertain significance174181847741818477Human2name
155667858CV1770811single nucleotide variantNM_021939.4(FKBP10):c.694C>T (p.Pro232Ser)not provided [RCV002297174]uncertain significance174181849441818494Humanname
155666924CV1773405single nucleotide variantNM_021939.4(FKBP10):c.602A>C (p.Tyr201Ser)not provided [RCV002297117]uncertain significance174181840241818402Humanname
155796959CV1863087single nucleotide variantNM_021939.4(FKBP10):c.385G>A (p.Gly129Ser)Osteogenesis imperfecta type 11 [RCV002470361]uncertain significance174181719741817197Human1name
156408047CV1873190single nucleotide variantNM_021939.4(FKBP10):c.766G>A (p.Val256Ile)not provided [RCV003071112]uncertain significance174181924841819248Humanname
156405047CV1883679single nucleotide variantNM_021939.4(FKBP10):c.841C>T (p.Arg281Cys)Inborn genetic diseases [RCV003294476]|not provided [RCV003069897]uncertain significance174181932341819323Human1name
156359700CV1891535single nucleotide variantNM_021939.4(FKBP10):c.830C>G (p.Pro277Arg)Inborn genetic diseases [RCV003091619]|not provided [RCV003091620]uncertain significance174181931241819312Human1name
156414601CV1908870single nucleotide variantNM_021939.4(FKBP10):c.856G>A (p.Gly286Arg)not provided [RCV002588701]uncertain significance174181933841819338Humanname
156050500CV1923885single nucleotide variantNM_021939.4(FKBP10):c.613G>A (p.Val205Ile)FKBP10-related disorder [RCV003918938]|Inborn genetic diseases [RCV002637918]|not provided [RCV002637919]uncertain significance174181841341818413Human2name , trait , alternate_id
156280945CV1964377single nucleotide variantNM_021939.4(FKBP10):c.562G>A (p.Gly188Ser)not provided [RCV002577475]uncertain significance174181825941818259Humanname
156207912CV2000754single nucleotide variantNM_021939.4(FKBP10):c.715G>A (p.Glu239Lys)not provided [RCV002666735]uncertain significance174181851541818515Humanname
156199810CV2092439single nucleotide variantNM_021939.4(FKBP10):c.971C>G (p.Pro324Arg)Inborn genetic diseases [RCV005343523]|not provided [RCV002917746]uncertain significance174181958341819583Human1name
156209414CV2106558single nucleotide variantNM_021939.4(FKBP10):c.829C>A (p.Pro277Thr)Inborn genetic diseases [RCV005343538]|not provided [RCV002957680]uncertain significance174181931141819311Human1name
156120875CV2128521single nucleotide variantNM_021939.4(FKBP10):c.923C>T (p.Ser308Phe)not provided [RCV002953492]uncertain significance174181953541819535Humanname
156120185CV2150860single nucleotide variantNM_021939.4(FKBP10):c.497A>G (p.His166Arg)not provided [RCV003021766]uncertain significance174181819441818194Humanname
156140983CV2199899single nucleotide variantNM_021939.4(FKBP10):c.427G>A (p.Asp143Asn)Inborn genetic diseases [RCV002641275]uncertain significance174181812441818124Human1name
156084943CV2205624single nucleotide variantNM_021939.4(FKBP10):c.506G>A (p.Arg169His)Inborn genetic diseases [RCV002661010]uncertain significance174181820341818203Human1name
155966514CV2261921single nucleotide variantNM_021939.4(FKBP10):c.607A>G (p.Thr203Ala)Inborn genetic diseases [RCV002817320]uncertain significance174181840741818407Human1name
156112712CV2267530single nucleotide variantNM_021939.4(FKBP10):c.608C>A (p.Thr203Asn)Inborn genetic diseases [RCV002848547]uncertain significance174181840841818408Human1name
156269172CV2275679single nucleotide variantNM_021939.4(FKBP10):c.466G>A (p.Val156Met)Inborn genetic diseases [RCV002832200]uncertain significance174181816341818163Human1name
156188635CV2302886single nucleotide variantNM_021939.4(FKBP10):c.892A>T (p.Met298Leu)Inborn genetic diseases [RCV002892403]uncertain significance174181937441819374Human1name
156106691CV2307678single nucleotide variantNM_021939.4(FKBP10):c.941A>G (p.Asn314Ser)Inborn genetic diseases [RCV002888957]uncertain significance174181955341819553Human1name
156084358CV2381979single nucleotide variantNM_021939.4(FKBP10):c.508A>G (p.Met170Val)Inborn genetic diseases [RCV002694697]|not provided [RCV005059428]uncertain significance174181820541818205Human1name
243059086CV2410095single nucleotide variantNM_021939.4(FKBP10):c.894G>A (p.Met298Ile)not provided [RCV003147269]uncertain significance174181937641819376Humanname
243052764CV2410096single nucleotide variantNM_021939.4(FKBP10):c.419T>G (p.Leu140Arg)not provided [RCV003143982]uncertain significance174181811641818116Humanname
329399658CV2467588single nucleotide variantNM_021939.4(FKBP10):c.566C>A (p.Thr189Asn)Inborn genetic diseases [RCV003221051]uncertain significance174181826341818263Human1name
11549099CV256170single nucleotide variantNM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)Osteogenesis imperfecta type 11 [RCV000844870]|not provided [RCV001573716]|not specified [RCV000249973]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance174181839041818390Human1name
329848199CV2667818single nucleotide variantNM_021939.4(FKBP10):c.731C>T (p.Thr244Ile)not provided [RCV003229385]uncertain significance174181921341819213Humanname
329952400CV2671750single nucleotide variantNM_021939.4(FKBP10):c.902C>A (p.Thr301Asn)not provided [RCV003237146]uncertain significance174181938441819384Humanname
401727392CV2684627single nucleotide variantNM_021939.4(FKBP10):c.964A>G (p.Ile322Val)Inborn genetic diseases [RCV003270030]uncertain significance174181957641819576Human1name
401726224CV2695612single nucleotide variantNM_021939.4(FKBP10):c.697C>G (p.Pro233Ala)Inborn genetic diseases [RCV003246295]uncertain significance174181849741818497Human1name
401748671CV2704370single nucleotide variantNM_021939.4(FKBP10):c.674A>G (p.Glu225Gly)Inborn genetic diseases [RCV003294720]uncertain significance174181847441818474Human1name
401775227CV2710481single nucleotide variantNM_021939.4(FKBP10):c.431T>G (p.Val144Gly)Inborn genetic diseases [RCV003262824]uncertain significance174181812841818128Human1name
401749569CV2710811single nucleotide variantNM_021939.4(FKBP10):c.932A>C (p.His311Pro)Inborn genetic diseases [RCV003276488]uncertain significance174181954441819544Human1name
11639935CV273008single nucleotide variantNM_021939.4(FKBP10):c.429T>G (p.Asp143Glu)not provided [RCV000329649]uncertain significance174181812641818126Humanname
401856629CV2752616deletionNM_021939.4(FKBP10):c.1034del (p.Pro345fs)Osteogenesis imperfecta type 11 [RCV003340954]likely pathogenic174181964141819641Human1name
401893785CV2759819single nucleotide variantNM_021939.4(FKBP10):c.392C>T (p.Ala131Val)Inborn genetic diseases [RCV003356399]uncertain significance174181808941818089Human1name
405131012CV2905164single nucleotide variantNM_021939.4(FKBP10):c.310C>T (p.Arg104Ter)not provided [RCV003560004]pathogenic174181712241817122Humanname
405243790CV2971733deletionNM_021939.4(FKBP10):c.1161del (p.Pro388fs)not provided [RCV003684677]pathogenic174182036541820365Humanname
402485758CV2998880deletionNM_021939.4(FKBP10):c.1294del (p.Ala432fs)not provided [RCV003687037]pathogenic174182098141820981Humanname
404991194CV2999286single nucleotide variantNM_021939.4(FKBP10):c.875A>C (p.His292Pro)not provided [RCV003692300]uncertain significance174181935741819357Humanname
405230122CV3072897deletionNM_021939.4(FKBP10):c.1276del (p.Gln426fs)Bruck syndrome 1 [RCV005415485]|not provided [RCV003734676]pathogenic|likely pathogenic174182096141820961Human1name
405217885CV3161031deletionNM_021939.4(FKBP10):c.1628del (p.Pro543fs)not provided [RCV003863093]pathogenic174182228541822285Humanname
405259504CV3194867single nucleotide variantNM_021939.4(FKBP10):c.346C>T (p.Arg116Cys)FKBP10-related disorder [RCV003894254]uncertain significance174181715841817158Humanname , trait , alternate_id
405708579CV3225483single nucleotide variantNM_021939.4(FKBP10):c.583T>C (p.Tyr195His)Osteogenesis imperfecta type 11 [RCV003990539]uncertain significance174181838341818383Human1name
405708756CV3225549single nucleotide variantNM_021939.4(FKBP10):c.884G>T (p.Gly295Val)Osteogenesis imperfecta type 11 [RCV003990606]uncertain significance174181936641819366Human1name
405779986CV3260670single nucleotide variantNM_021939.4(FKBP10):c.322G>A (p.Gly108Ser)Inborn genetic diseases [RCV004386605]uncertain significance174181713441817134Human1name
405779992CV3260671single nucleotide variantNM_021939.4(FKBP10):c.588T>G (p.Ser196Arg)Inborn genetic diseases [RCV004386606]|not provided [RCV004790661]uncertain significance174181838841818388Human1name
407502775CV3435913single nucleotide variantNM_021939.4(FKBP10):c.573C>G (p.Phe191Leu)Inborn genetic diseases [RCV004623557]uncertain significance174181827041818270Human1name
407502787CV3435917single nucleotide variantNM_021939.4(FKBP10):c.539A>T (p.His180Leu)Inborn genetic diseases [RCV004623561]uncertain significance174181823641818236Human1name
407502795CV3435920single nucleotide variantNM_021939.4(FKBP10):c.314G>C (p.Gly105Ala)Inborn genetic diseases [RCV004623564]uncertain significance174181712641817126Human1name
11631752CV344447single nucleotide variantNM_021939.4(FKBP10):c.473T>C (p.Val158Ala)Inborn genetic diseases [RCV002521106]|Osteogenesis imperfecta type 11 [RCV000386768]|not provided [RCV000596895]uncertain significance174181817041818170Human2name
11628120CV344448single nucleotide variantNM_021939.4(FKBP10):c.587G>A (p.Ser196Asn)Osteogenesis imperfecta type 11 [RCV000295192]|not provided [RCV001850725]|not specified [RCV000507814]uncertain significance174181838741818387Human1name
11628109CV345847single nucleotide variantNM_021939.4(FKBP10):c.505C>G (p.Arg169Gly)Osteogenesis imperfecta type 11 [RCV000294826]uncertain significance174181820241818202Human1name
11630546CV345848single nucleotide variantNM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)Bruck syndrome 1 [RCV001329235]|Inborn genetic diseases [RCV004021702]|Osteogenesis imperfecta type 11 [RCV000352068]|not provided [RCV002522960]likely benign|uncertain significance174181821741818217Human3name
408375605CV3510331single nucleotide variantNM_021939.4(FKBP10):c.479C>T (p.Thr160Ile)FKBP10-related disorder [RCV004748201]uncertain significance174181817641818176Humanname , trait , alternate_id
597653913CV3669691single nucleotide variantNM_021939.4(FKBP10):c.940A>G (p.Asn314Asp)Inborn genetic diseases [RCV004975121]uncertain significance174181955241819552Human1name
597653918CV3669692single nucleotide variantNM_021939.4(FKBP10):c.815C>T (p.Thr272Met)Inborn genetic diseases [RCV004975122]uncertain significance174181929741819297Human1name
597653923CV3669693single nucleotide variantNM_021939.4(FKBP10):c.865A>G (p.Met289Val)Inborn genetic diseases [RCV004975123]uncertain significance174181934741819347Human1name
597769719CV3709005single nucleotide variantNM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter)Bruck syndrome 1 [RCV005020220]likely pathogenic174181852641818526Human1name
597894262CV3744034single nucleotide variantNM_021939.4(FKBP10):c.821A>T (p.Glu274Val)not provided [RCV005071504]uncertain significance174181930341819303Humanname
597911267CV3770461duplicationNM_021939.4(FKBP10):c.1373dup (p.His459fs)not provided [RCV005113762]pathogenic174182105841821059Humanname
598127723CV3882842single nucleotide variantNM_021939.4(FKBP10):c.887C>T (p.Ser296Phe)not provided [RCV005234373]uncertain significance174181936941819369Humanname
598125755CV3885926single nucleotide variantNM_021939.4(FKBP10):c.327G>A (p.Met109Ile)not provided [RCV005241729]uncertain significance174181713941817139Humanname
598200640CV3955869single nucleotide variantNM_021939.4(FKBP10):c.909C>G (p.Phe303Leu)Inborn genetic diseases [RCV005336687]uncertain significance174181939141819391Human1name
598200657CV3955872single nucleotide variantNM_021939.4(FKBP10):c.872A>G (p.Tyr291Cys)Inborn genetic diseases [RCV005336690]uncertain significance174181935441819354Human1name
8568476CV39590duplicationNM_021939.4(FKBP10):c.1276dup (p.Gln426fs)Bruck syndrome 1 [RCV000023608]|Osteogenesis imperfecta type 11 [RCV003137541]|not provided [RCV003556079]pathogenic174182096041820961Human2name
8568477CV39591single nucleotide variantNM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)Bruck syndrome 1 [RCV000023609]|Osteogenesis imperfecta [RCV002281717]|not provided [RCV001852024]pathogenic|likely pathogenic174181715641817156Human2name
12899365CV409926single nucleotide variantNM_021939.4(FKBP10):c.506G>C (p.Arg169Pro)not provided [RCV000480043]uncertain significance174181820341818203Humanname
13435800CV433570single nucleotide variantNM_021939.4(FKBP10):c.829C>G (p.Pro277Ala)FKBP10-related disorder [RCV004748794]|Osteogenesis imperfecta [RCV002279288]|not provided [RCV001865658]|not specified [RCV000506032]uncertain significance174181931141819311Human2name , trait , alternate_id
8571206CV49909single nucleotide variantNM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)Bruck syndrome 1 [RCV000034360]|Bruck syndrome 1 [RCV005016321]|Osteogenesis imperfecta [RCV004579534]|Osteogenesis imperfecta type 11 [RCV003137556]|not provided [RCV003556108]pathogenic|likely pathogenic174181714941817149Human3name
13833470CV584705single nucleotide variantNM_021939.4(FKBP10):c.422A>G (p.Tyr141Cys)Inborn genetic diseases [RCV002535089]|not provided [RCV000728740]uncertain significance174181811941818119Human1name
14393644CV610082single nucleotide variantNM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)Osteogenesis imperfecta [RCV002279510]|Osteogenesis imperfecta type 11 [RCV001128129]|not provided [RCV000756168]|not specified [RCV003994103]likely benign|conflicting interpretations of pathogenicity|uncertain significance174181933241819332Human2name
14746702CV671994single nucleotide variantNM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)Osteogenesis imperfecta type 11 [RCV000844864]likely pathogenic174181718241817182Human1name
15166990CV672348single nucleotide variantNM_021939.4(FKBP10):c.773T>G (p.Leu258Arg)Osteogenesis imperfecta type III [RCV000860013]uncertain significance174181925541819255Human1name
15166991CV672349duplicationNM_021939.4(FKBP10):c.1024dup (p.Thr342fs)Osteogenesis imperfecta type III [RCV000860014]likely pathogenic174181963541819636Human1name
21075615CV797532single nucleotide variantNM_021939.4(FKBP10):c.595G>A (p.Gly199Ser)Inborn genetic diseases [RCV004973236]|not provided [RCV000996544]uncertain significance174181839541818395Human1name
21405543CV800031single nucleotide variantNM_021939.4(FKBP10):c.781G>A (p.Val261Met)not provided [RCV004693430]|not specified [RCV001000708]uncertain significance174181926341819263Humanname
28902018CV877485single nucleotide variantNM_021939.4(FKBP10):c.491C>T (p.Pro164Leu)Osteogenesis imperfecta type 11 [RCV001125052]|not provided [RCV002070037]likely benign|uncertain significance174181818841818188Human1name
28904308CV877488single nucleotide variantNM_021939.4(FKBP10):c.616G>A (p.Gly206Ser)Osteogenesis imperfecta type 11 [RCV001126030]uncertain significance174181841641818416Human1name
8636163CV91387single nucleotide variantNM_021939.3(FKBP10):c.569C>T (p.Ser190Phe)Malignant melanoma [RCV000071485]not provided174181826641818266Humanname
41405522CV982082single nucleotide variantNM_021939.4(FKBP10):c.311G>A (p.Arg104Gln)not provided [RCV001813043]uncertain significance174181712341817123Humanname
41405064CV982083single nucleotide variantNM_021939.4(FKBP10):c.505C>T (p.Arg169Cys)not provided [RCV001812367]uncertain significance174181820241818202Humanname
126727414CV1018287single nucleotide variantNM_021939.4(FKBP10):c.1029C>G (p.Ile343Met)Osteogenesis imperfecta type 11 [RCV001332420]uncertain significance174181964141819641Human1name
150541730CV1301578single nucleotide variantNM_021939.4(FKBP10):c.1004T>C (p.Met335Thr)not provided [RCV001761044]uncertain significance174181961641819616Humanname
150553644CV1303659single nucleotide variantNM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp)Inborn genetic diseases [RCV002544134]|not provided [RCV001769349]conflicting interpretations of pathogenicity|uncertain significance174181962741819627Human1name
151729622CV1335399single nucleotide variantNM_021939.4(FKBP10):c.1244A>C (p.Gln415Pro)not specified [RCV001844717]uncertain significance174182044941820449Humanname
151883692CV1338095single nucleotide variantNM_021939.4(FKBP10):c.1453C>T (p.Arg485Trp)not provided [RCV001962184]uncertain significance174182170741821707Humanname
151844320CV1339480single nucleotide variantNM_021939.4(FKBP10):c.1322C>T (p.Thr441Met)not provided [RCV001978084]uncertain significance174182101241821012Humanname
151752816CV1363633single nucleotide variantNM_021939.4(FKBP10):c.1549G>T (p.Val517Phe)Inborn genetic diseases [RCV005341090]|not provided [RCV001872436]|not specified [RCV002222733]uncertain significance174182180341821803Human1name
151856573CV1363647single nucleotide variantNM_021939.4(FKBP10):c.1003A>G (p.Met335Val)Bruck syndrome 1 [RCV002478140]|Inborn genetic diseases [RCV004039725]|not provided [RCV001904764]uncertain significance174181961541819615Human2name
151864590CV1431572single nucleotide variantNM_021939.4(FKBP10):c.1588G>C (p.Val530Leu)not provided [RCV001924446]uncertain significance174182224741822247Humanname
151768306CV1450777single nucleotide variantNM_021939.4(FKBP10):c.1169A>T (p.Glu390Val)not provided [RCV001929269]uncertain significance174182037441820374Humanname
151748896CV1460312single nucleotide variantNM_021939.4(FKBP10):c.1538A>G (p.Lys513Arg)not provided [RCV001894120]uncertain significance174182179241821792Humanname
151851411CV1460664single nucleotide variantNM_021939.4(FKBP10):c.1075C>A (p.Pro359Thr)not provided [RCV001904145]uncertain significance174182028041820280Humanname
151796854CV1487185single nucleotide variantNM_021939.4(FKBP10):c.1046A>G (p.Tyr349Cys)not provided [RCV001917340]uncertain significance174181965841819658Humanname
151721642CV1489532single nucleotide variantNM_021939.4(FKBP10):c.1042G>A (p.Ala348Thr)not provided [RCV001891193]uncertain significance174181965441819654Humanname
151741417CV1501041single nucleotide variantNM_021939.4(FKBP10):c.1130C>T (p.Ala377Val)FKBP10-related disorder [RCV003401947]|not provided [RCV001985272]uncertain significance174182033541820335Human1name , trait , alternate_id
151744613CV1507323single nucleotide variantNM_021939.4(FKBP10):c.1499A>G (p.Asp500Gly)not provided [RCV001985589]uncertain significance174182175341821753Humanname
151820288CV1510433single nucleotide variantNM_021939.4(FKBP10):c.1730G>A (p.Arg577Gln)Inborn genetic diseases [RCV004043002]|not provided [RCV001934075]uncertain significance174182238941822389Human1name
151709415CV1515000single nucleotide variantNM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)Bruck syndrome 1 [RCV005017026]|not provided [RCV002001645]pathogenic|likely pathogenic174182228041822280Human1name
152979578CV1675639single nucleotide variantNM_021939.4(FKBP10):c.1402C>T (p.Arg468Trp)Inborn genetic diseases [RCV003164346]|Osteogenesis imperfecta type 11 [RCV002244229]uncertain significance174182165641821656Human2name
10049755CV190898single nucleotide variantNM_021939.4(FKBP10):c.1667G>A (p.Arg556His)Bruck syndrome 1 [RCV000765353]|Bruck syndrome 1 [RCV001332422]|Inborn genetic diseases [RCV003165360]|Osteogenesis imperfecta type 11 [RCV000363348]|not provided [RCV000724446]uncertain significance174182232641822326Human3name
156025232CV1922480single nucleotide variantNM_021939.4(FKBP10):c.1276C>G (p.Gln426Glu)not provided [RCV002636909]uncertain significance174182096641820966Humanname
156124044CV1953028single nucleotide variantNM_021939.4(FKBP10):c.1034C>T (p.Pro345Leu)Inborn genetic diseases [RCV003355863]|not provided [RCV002571977]uncertain significance174181964641819646Human1name
10053287CV196060single nucleotide variantNM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)FKBP10-related disorder [RCV003977482]|Osteogenesis imperfecta [RCV002277430]|Osteogenesis imperfecta type 11 [RCV000303036]|not provided [RCV000890998]|not specified [RCV000180361]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance174182099741820997Human2name , trait , alternate_id
156384176CV1961093single nucleotide variantNM_021939.4(FKBP10):c.1051G>A (p.Glu351Lys)not provided [RCV002583371]uncertain significance174181966341819663Humanname
10053475CV196320single nucleotide variantNM_021939.4(FKBP10):c.1550T>A (p.Val517Asp)not provided [RCV000180675]uncertain significance174182180441821804Humanname
156111134CV1997031single nucleotide variantNM_021939.4(FKBP10):c.1271C>T (p.Ala424Val)not provided [RCV002662493]uncertain significance174182096141820961Humanname
156234966CV2157947single nucleotide variantNM_021939.4(FKBP10):c.1021A>G (p.Ile341Val)not provided [RCV003025787]uncertain significance174181963341819633Humanname
156148176CV2175171single nucleotide variantNM_021939.4(FKBP10):c.1243C>T (p.Gln415Ter)not provided [RCV003040280]pathogenic174182044841820448Humanname
156346262CV2191213single nucleotide variantNM_021939.4(FKBP10):c.1116C>A (p.Asp372Glu)not provided [RCV003048027]uncertain significance174182032141820321Humanname
156387238CV2221451single nucleotide variantNM_021939.4(FKBP10):c.1087G>C (p.Val363Leu)Inborn genetic diseases [RCV002723838]uncertain significance174182029241820292Human1name
329366086CV2438088single nucleotide variantNM_021939.4(FKBP10):c.1146C>G (p.Ile382Met)Inborn genetic diseases [RCV003207559]uncertain significance174182035141820351Human1name
329382849CV2445595single nucleotide variantNM_021939.4(FKBP10):c.1102G>A (p.Val368Ile)Inborn genetic diseases [RCV003176127]uncertain significance174182030741820307Human1name
329954617CV2670558single nucleotide variantNM_021939.4(FKBP10):c.1049G>C (p.Gly350Ala)not provided [RCV003235825]uncertain significance174181966141819661Humanname
11645119CV268609single nucleotide variantNM_021939.4(FKBP10):c.1208G>A (p.Arg403Gln)not provided [RCV000263612]uncertain significance174182041341820413Humanname
11648508CV273636single nucleotide variantNM_021939.4(FKBP10):c.1390G>A (p.Glu464Lys)not provided [RCV000282357]uncertain significance174182108041821080Humanname
401877988CV2786899single nucleotide variantNM_021939.4(FKBP10):c.1577T>A (p.Ile526Asn)Inborn genetic diseases [RCV003384003]uncertain significance174182223641822236Human1name
405238783CV3081346single nucleotide variantNM_021939.4(FKBP10):c.1373C>T (p.Pro458Leu)not provided [RCV003736434]uncertain significance174182106341821063Humanname
405779973CV3260668single nucleotide variantNM_021939.4(FKBP10):c.1291G>A (p.Gly431Arg)Inborn genetic diseases [RCV004386603]uncertain significance174182098141820981Human1name
11619610CV338390single nucleotide variantNM_021939.4(FKBP10):c.1613T>C (p.Met538Thr)Osteogenesis imperfecta type 11 [RCV000327359]|not provided [RCV001859915]uncertain significance174182227241822272Human1name
407502778CV3435914single nucleotide variantNM_021939.4(FKBP10):c.1241C>T (p.Thr414Ile)Inborn genetic diseases [RCV004623558]uncertain significance174182044641820446Human1name
407502785CV3435916single nucleotide variantNM_021939.4(FKBP10):c.1267G>A (p.Gly423Arg)Inborn genetic diseases [RCV004623560]uncertain significance174182095741820957Human1name
407502789CV3435918single nucleotide variantNM_021939.4(FKBP10):c.1279G>C (p.Glu427Gln)Inborn genetic diseases [RCV004623562]uncertain significance174182096941820969Human1name
407502797CV3435921single nucleotide variantNM_021939.4(FKBP10):c.1405G>A (p.Gly469Arg)Inborn genetic diseases [RCV004623565]uncertain significance174182165941821659Human1name
11632119CV344449single nucleotide variantNM_021939.4(FKBP10):c.1016G>A (p.Arg339Gln)Osteogenesis Imperfecta, Recessive [RCV000397996]|not provided [RCV001850726]uncertain significance174181962841819628Human1name
11626689CV345861single nucleotide variantNM_021939.4(FKBP10):c.1723G>A (p.Glu575Lys)Osteogenesis imperfecta type 11 [RCV000268663]|not provided [RCV002521107]uncertain significance174182238241822382Human1name
597653908CV3669690single nucleotide variantNM_021939.4(FKBP10):c.1331A>G (p.Gln444Arg)Inborn genetic diseases [RCV004975120]uncertain significance174182102141821021Human1name
597953185CV3795484single nucleotide variantNM_021939.4(FKBP10):c.1321A>G (p.Thr441Ala)not provided [RCV005136494]uncertain significance174182101141821011Humanname
597907190CV3804156single nucleotide variantNM_021939.4(FKBP10):c.1259A>G (p.His420Arg)not provided [RCV005153702]uncertain significance174182094941820949Humanname
598125341CV3883944single nucleotide variantNM_021939.4(FKBP10):c.1034C>G (p.Pro345Arg)not provided [RCV005236299]uncertain significance174181964641819646Humanname
598200646CV3955870single nucleotide variantNM_021939.4(FKBP10):c.1309G>A (p.Glu437Lys)Inborn genetic diseases [RCV005336688]uncertain significance174182099941820999Human1name
598200652CV3955871single nucleotide variantNM_021939.4(FKBP10):c.1163C>T (p.Pro388Leu)Inborn genetic diseases [RCV005336689]uncertain significance174182036841820368Human1name
616934438CV4012443single nucleotide variantNM_021939.4(FKBP10):c.1277A>G (p.Gln426Arg)not specified [RCV005409480]uncertain significance174182096741820967Humanname
617153029CV4018668single nucleotide variantNM_021939.4(FKBP10):c.1236C>A (p.Asp412Glu)not specified [RCV005419360]uncertain significance174182044141820441Humanname
8570669CV48441single nucleotide variantNM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)Osteogenesis imperfecta type 12 [RCV000033069]pathogenic174182041241820412Human1name
13519263CV491336single nucleotide variantNM_021939.4(FKBP10):c.1160G>A (p.Arg387Gln)not provided [RCV000597842]|not specified [RCV001000807]uncertain significance174182036541820365Humanname
14393643CV610083single nucleotide variantNM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)FKBP10-related disorder [RCV003965560]|Osteogenesis imperfecta type 11 [RCV001122389]|not provided [RCV000756167]benign|likely benign|uncertain significance174182105341821053Human1name , trait , alternate_id
14394172CV610084single nucleotide variantNM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu)Osteogenesis imperfecta type 11 [RCV001125172]|not provided [RCV000757296]uncertain significance174182181041821810Human1name
14746709CV671998single nucleotide variantNM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn)Osteogenesis imperfecta type 11 [RCV000844874]uncertain significance174182177641821776Human1name
15106596CV727174single nucleotide variantNM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)Bruck syndrome 1 [RCV002495402]|Osteogenesis imperfecta type 11 [RCV001125171]|not provided [RCV000893314]benign|likely benign174182180041821800Human2name
21405387CV800033single nucleotide variantNM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)FKBP10-related disorder [RCV003906141]|Osteogenesis imperfecta [RCV002279698]|not provided [RCV001460849]|not specified [RCV001000309]likely benign|conflicting interpretations of pathogenicity|uncertain significance174182046141820461Human2name , trait , alternate_id
28895201CV877490single nucleotide variantNM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile)Osteogenesis imperfecta type 11 [RCV001122385]uncertain significance174182097641820976Human1name
28895214CV877493single nucleotide variantNM_021939.4(FKBP10):c.1366G>A (p.Val456Met)Osteogenesis imperfecta type 11 [RCV001122390]uncertain significance174182105641821056Human1name
28895217CV877494single nucleotide variantNM_021939.4(FKBP10):c.1367T>C (p.Val456Ala)Osteogenesis imperfecta type 11 [RCV001122391]uncertain significance174182105741821057Human1name
28902321CV877495single nucleotide variantNM_021939.4(FKBP10):c.1382C>T (p.Ala461Val)Osteogenesis imperfecta type 11 [RCV001125167]uncertain significance174182107241821072Human1name
28902327CV877496single nucleotide variantNM_021939.4(FKBP10):c.1403G>A (p.Arg468Gln)Osteogenesis imperfecta type 11 [RCV001125169]uncertain significance174182165741821657Human1name
28902329CV877497single nucleotide variantNM_021939.4(FKBP10):c.1454G>A (p.Arg485Gln)Osteogenesis imperfecta type 11 [RCV001125170]|not provided [RCV002556713]uncertain significance174182170841821708Human1name
28904568CV877498single nucleotide variantNM_021939.4(FKBP10):c.1693G>A (p.Asp565Asn)Osteogenesis imperfecta type 11 [RCV001126140]|not provided [RCV005056913]uncertain significance174182235241822352Human1name
40815071CV971076single nucleotide variantNM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser)Bruck syndrome 1 [RCV001262423]|not provided [RCV003145500]uncertain significance174182035441820354Human1name
41407451CV982084single nucleotide variantNM_021939.4(FKBP10):c.1207C>G (p.Arg403Gly)not provided [RCV001810717]|not specified [RCV004690064]uncertain significance174182041241820412Humanname
41405044CV982086single nucleotide variantNM_021939.4(FKBP10):c.1582G>T (p.Ala528Ser)not provided [RCV001812350]uncertain significance174182224141822241Humanname
41405525CV982087single nucleotide variantNM_021939.4(FKBP10):c.1640T>C (p.Ile547Thr)not provided [RCV001813046]uncertain significance174182229941822299Humanname
8568475CV39589deletionNM_021939.4(FKBP10):c.122_156del (p.Leu41fs)Osteogenesis imperfecta type 12 [RCV000023607]pathogenic174181315241813186Human1name
402473746CV2857919duplicationNM_021939.4(FKBP10):c.963_967dup (p.Ile323fs)not provided [RCV003543013]pathogenic174181957341819574Humanname
405240124CV2990047deletionNM_021939.4(FKBP10):c.910_914del (p.Asp304fs)not provided [RCV003683883]pathogenic174181938941819393Humanname
405089689CV3025213duplicationNM_021939.4(FKBP10):c.591_598dup (p.Thr200fs)not provided [RCV003699649]pathogenic174181838941818390Humanname
597769710CV3709007deletionNM_021939.4(FKBP10):c.829_841del (p.Pro277fs)Bruck syndrome 1 [RCV005020222]likely pathogenic174181930941819321Human1name
10401288CV204645deletionNM_021939.4(FKBP10):c.877_879del (p.Tyr293del)Bruck syndrome 1 [RCV000190460]|Osteogenesis imperfecta [RCV003993877]|not provided [RCV000598565]pathogenic174181935741819359Human2name
405084636CV3028215insertionNM_021939.4(FKBP10):c.186_187insTG (p.Asp63fs)not provided [RCV003699289]pathogenic174181321941813220Humanname
14691255CV619859duplicationNM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)Bruck syndrome 1 [RCV001007839]|Bruck syndrome 1 [RCV005021157]|Osteogenesis imperfecta type 11 [RCV000778071]pathogenic|likely pathogenic174181937141819372Human2name
10401466CV205304microsatelliteNM_021939.4(FKBP10):c.1343_1344del (p.Val448fs)Inborn genetic diseases [RCV000190651]|not provided [RCV001726033]pathogenic174182102741821028Humanname
405227922CV2963711duplicationNM_021939.4(FKBP10):c.1487_1497dup (p.Asp500fs)not provided [RCV003681749]pathogenic174182173941821740Humanname
405194191CV2985933duplicationNM_021939.4(FKBP10):c.1247_1251dup (p.Thr418fs)not provided [RCV003706743]pathogenic174182045041820451Humanname
597769700CV3709009duplicationNM_021939.4(FKBP10):c.1499_1502dup (p.Ala503fs)Bruck syndrome 1 [RCV005020224]likely pathogenic174182175241821753Human1name
8568474CV39588duplicationNM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)Bruck syndrome 1 [RCV000023606]|FKBP10-related disorder [RCV003964811]pathogenic174181962741819628Human2name , trait , alternate_id
151846447CV1423789indelNM_021939.4(FKBP10):c.491_492delinsAA (p.Pro164Gln)not provided [RCV001995396]uncertain significance174181818841818189Humanname
405855281CV3394043indelNM_021939.4(FKBP10):c.1619_1623delinsT (p.Gly540fs)Osteogenesis imperfecta type 11 [RCV004547269]likely pathogenic174182227841822282Humanname
8571190CV49863indelNM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs)Bruck syndrome 1 [RCV000034324]|Osteogenesis imperfecta type 12 [RCV000034359]pathogenic174182096141820962Humanname
402524170CV3015062insertionNM_021939.4(FKBP10):c.151_152insACCCCACA (p.Ile51fs)not provided [RCV003690519]pathogenic174181318041813181Humanname
8557490CV18571deletionNM_021939.4(FKBP10):c.321_353del (p.Met107_Leu117del)Osteogenesis imperfecta type 12 [RCV000003710]|not provided [RCV005089153]pathogenic174181712641817158Human1name
15166992CV672347duplicationNM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup)Osteogenesis imperfecta type III [RCV000860015]likely pathogenic174181821841818219Human1name
597672941CV3703370indelNM_021939.4(FKBP10):c.1479_1481delinsTCAG (p.Leu494fs)Osteogenesis imperfecta type 11 [RCV004823554]likely pathogenic174182173341821735Humanname
156152326CV2100357insertionNM_021939.4(FKBP10):c.245+801_245+802insTGGGTGTGGGGCGCCTCATCACTGGCATGGACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCTCCCCACCTGGGCTATGGGAGCATCGGCCTGGGTGAGAnot provided [RCV002872364]likely benign174181408041814081Humanname