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186 records found for search term Taf15
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150411484CV1178150single nucleotide variantNM_139215.3(TAF15):c.8-17C>Anot provided [RCV001547186]likely benign173581769935817699Humanname
150418953CV1181508single nucleotide variantNM_139215.3(TAF15):c.8-202A>Gnot provided [RCV001550824]likely benign173581751435817514Humanname
150488622CV1208284single nucleotide variantNM_139215.3(TAF15):c.7+288G>Anot provided [RCV001592144]likely benign173580986435809864Humanname
150498340CV1271494single nucleotide variantNM_139215.3(TAF15):c.8-260A>Gnot provided [RCV001689184]benign173581745635817456Humanname
405275046CV3204564single nucleotide variantNM_139215.3(TAF15):c.673+6G>CTAF15-related disorder [RCV003951981]likely benign173583460435834604Humanname , trait , alternate_id
408372694CV3511902single nucleotide variantNM_139215.3(TAF15):c.484+6A>GTAF15-related disorder [RCV004743795]likely benign173582283935822839Humanname , trait , alternate_id
15176429CV744963single nucleotide variantNM_139215.3(TAF15):c.485-4G>CTAF15-related disorder [RCV003923081]|not provided [RCV000906427]benign|likely benign173582407435824074Human1name , trait , alternate_id
150416640CV1181509single nucleotide variantNM_139215.3(TAF15):c.641-29T>Cnot provided [RCV001549754]likely benign173583453735834537Humanname
150424913CV1185245single nucleotide variantNM_139215.3(TAF15):c.913+37G>Tnot provided [RCV001557304]likely benign173583859035838590Humanname
150504383CV1211382single nucleotide variantNM_139215.3(TAF15):c.291-84G>Anot provided [RCV001595547]benign173582255635822556Humanname
150505659CV1213581duplicationNM_139215.3(TAF15):c.913+48dupnot provided [RCV001595837]benign173583859735838598Humanname
150508519CV1214065single nucleotide variantNM_139215.3(TAF15):c.641-50T>Cnot provided [RCV001596586]likely benign173583451635834516Humanname
150469752CV1219126duplicationNM_139215.3(TAF15):c.673+56dupnot provided [RCV001614878]benign173583464435834645Humanname
150482828CV1223489deletionNM_139215.3(TAF15):c.673+56delnot provided [RCV001617202]benign173583464535834645Humanname
150443660CV1249310single nucleotide variantNM_139215.3(TAF15):c.48-210C>Anot provided [RCV001666742]benign173581981435819814Humanname
150466170CV1255695duplicationNM_139215.3(TAF15):c.605+57dupnot provided [RCV001670329]benign173582424135824242Humanname
150521149CV1290900single nucleotide variantNM_139215.3(TAF15):c.185-16C>Tnot provided [RCV001732530]likely benign173582031635820316Humanname
405260085CV3190155single nucleotide variantNM_139215.3(TAF15):c.913+10A>TTAF15-related disorder [RCV003894558]likely benign173583856335838563Humanname , trait , alternate_id
405265683CV3215596single nucleotide variantNM_139215.3(TAF15):c.1006+3A>GTAF15-related disorder [RCV003946783]likely benign173584246235842462Humanname , trait , alternate_id
150331047CV1172985single nucleotide variantNM_139215.3(TAF15):c.290+157G>Anot provided [RCV001538445]likely benign173582059435820594Human1name
150331047CV1172985single nucleotide variantNM_139215.3(TAF15):c.290+157G>Anot provided [RCV001538445]likely benign173582059435820595Human1name
150336708CV1172986duplicationNM_139215.3(TAF15):c.291-278dupnot provided [RCV001541127]benign173582234435822345Humanname
150332648CV1172987single nucleotide variantNM_139215.3(TAF15):c.606-147C>Tnot provided [RCV001539137]benign173583376035833760Humanname
150428369CV1188523single nucleotide variantNM_139215.3(TAF15):c.1089-25G>Anot provided [RCV001562174]likely benign173584425535844255Humanname
150406932CV1191953single nucleotide variantNM_139215.3(TAF15):c.290+106A>Tnot provided [RCV001564847]likely benign173582054335820543Humanname
150466333CV1201227single nucleotide variantNM_139215.3(TAF15):c.674-294C>Anot provided [RCV001587707]likely benign173583583835835838Humanname
150449462CV1202444single nucleotide variantNM_139215.3(TAF15):c.673+257C>Anot provided [RCV001585041]likely benign173583485535834855Humanname
150431073CV1206228deletionNM_139215.3(TAF15):c.291-278delnot provided [RCV001580876]likely benign173582234535822345Humanname
150461309CV1206444single nucleotide variantNM_139215.3(TAF15):c.1178-29G>Anot provided [RCV001586845]likely benign173584444835844448Humanname
150513806CV1210701single nucleotide variantNM_139215.3(TAF15):c.914-216G>Anot provided [RCV001598742]benign173584215135842151Humanname
150505918CV1213648single nucleotide variantNM_139215.3(TAF15):c.783+152T>Anot provided [RCV001595904]benign173583639335836393Humanname
150501384CV1223691single nucleotide variantNM_139215.3(TAF15):c.291-142A>Gnot provided [RCV001620812]benign173582249835822498Humanname
150434757CV1231171single nucleotide variantNM_139215.3(TAF15):c.783+320G>Anot provided [RCV001643815]benign173583656135836561Human1name
150505941CV1254746single nucleotide variantNM_139215.3(TAF15):c.1088+60A>Gnot provided [RCV001678051]benign173584421835844218Humanname
150493174CV1257500deletionNM_139215.3(TAF15):c.290+105delnot provided [RCV001675173]benign173582053035820530Humanname
150481564CV1258941single nucleotide variantNM_139215.3(TAF15):c.485-178G>Cnot provided [RCV001686071]benign173582390035823900Humanname
150456092CV1259963single nucleotide variantNM_139215.3(TAF15):c.641-289G>Anot provided [RCV001681442]benign173583427735834277Humanname
150443614CV1266419single nucleotide variantNM_139215.3(TAF15):c.485-107G>Anot provided [RCV001690855]benign173582397135823971Humanname
150447065CV1270251single nucleotide variantNM_139215.3(TAF15):c.783+142G>Cnot provided [RCV001691385]benign173583638335836383Humanname
407530428CV3478538single nucleotide variantNM_139215.3(TAF15):c.5C>T (p.Ser2Leu)not specified [RCV004681902]uncertain significance173580957435809574Humanname
405271268CV3202807single nucleotide variantNM_139215.3(TAF15):c.123G>A (p.Thr41=)TAF15-related disorder [RCV003913873]likely benign173582018735820187Humanname , trait , alternate_id
150494448CV1204834deletionNM_139215.3(TAF15):c.606-321_606-317delnot provided [RCV001593326]likely benign173583358235833586Humanname
150510329CV1211571single nucleotide variantNM_139215.3(TAF15):c.660C>T (p.Pro220=)TAF15-related disorder [RCV003956286]|not provided [RCV001597363]benign|likely benign173583458535834585Human1name , trait , alternate_id
408370005CV3502968single nucleotide variantNM_139215.3(TAF15):c.59A>G (p.Tyr20Cys)not provided [RCV004724089]uncertain significance173582003535820035Humanname
15177983CV715385single nucleotide variantNM_139215.3(TAF15):c.876C>T (p.Asp292=)TAF15-related disorder [RCV004743232]|not provided [RCV000973556]benign|likely benign173583851635838516Human1name , trait , alternate_id
15132282CV740696single nucleotide variantNM_139215.3(TAF15):c.726G>A (p.Gly242=)TAF15-related disorder [RCV003910702]|not provided [RCV000897929]benign|likely benign173583618435836184Human1name , trait , alternate_id
150485971CV1223110single nucleotide variantNM_139215.3(TAF15):c.1344A>G (p.Gly448=)TAF15-related disorder [RCV003948648]|not provided [RCV001617823]benign|likely benign173584464335844643Human1name , trait , alternate_id
150502359CV1241227single nucleotide variantNM_139215.3(TAF15):c.1524C>T (p.Tyr508=)TAF15-related disorder [RCV003975802]|not provided [RCV001657123]benign173584482335844823Human1name , trait , alternate_id
150485724CV1262154single nucleotide variantNM_139215.3(TAF15):c.1287A>G (p.Gly429=)TAF15-related disorder [RCV003975943]|not provided [RCV001686845]benign173584458635844586Human2name , trait , alternate_id
150485724CV1262154single nucleotide variantNM_139215.3(TAF15):c.1287A>G (p.Gly429=)TAF15-related disorder [RCV003975943]|not provided [RCV001686845]benign173584458635844587Human2name , trait , alternate_id
150484974CV1273874single nucleotide variantNM_139215.3(TAF15):c.1332C>T (p.Gly444=)TAF15-related disorder [RCV003921345]|not provided [RCV001698616]benign|likely benign173584463135844631Human1name , trait , alternate_id
150549849CV1299689single nucleotide variantNM_139215.3(TAF15):c.223C>G (p.Gln75Glu)not provided [RCV001752615]uncertain significance173582037035820370Humanname
153303921CV1690552single nucleotide variantNM_139215.3(TAF15):c.143A>G (p.Gln48Arg)not provided [RCV002269596]uncertain significance173582020735820207Humanname
156055343CV2243185single nucleotide variantNM_139215.3(TAF15):c.122C>T (p.Thr41Met)not specified [RCV004110080]uncertain significance173582018635820186Humanname
329351538CV2462088single nucleotide variantNM_139215.3(TAF15):c.248A>G (p.Tyr83Cys)not specified [RCV004266119]uncertain significance173582039535820395Humanname
401798485CV2742452single nucleotide variantNM_139215.3(TAF15):c.227G>T (p.Ser76Ile)not provided [RCV003324896]uncertain significance173582037435820374Humanname
401903900CV2811253single nucleotide variantNM_139215.3(TAF15):c.1392T>A (p.Gly464=)not provided [RCV003419711]likely benign173584469135844691Humanname
401903902CV2811254single nucleotide variantNM_139215.3(TAF15):c.1395G>A (p.Gly465=)not provided [RCV003419712]likely benign173584469435844694Humanname
401914496CV2811255single nucleotide variantNM_139215.3(TAF15):c.1399A>C (p.Arg467=)not provided [RCV003428231]likely benign173584469835844698Humanname
401914494CV2811256single nucleotide variantNM_139215.3(TAF15):c.1407C>T (p.Gly469=)TAF15-related disorder [RCV003901050]|not provided [RCV003428232]likely benign173584470635844706Human1name , trait , alternate_id
405256232CV3203585single nucleotide variantNM_139215.3(TAF15):c.1371G>A (p.Gly457=)TAF15-related disorder [RCV003939825]likely benign173584467035844670Humanname , trait , alternate_id
405274575CV3208960single nucleotide variantNM_139215.3(TAF15):c.1380C>A (p.Gly460=)TAF15-related disorder [RCV003951735]likely benign173584467935844679Humanname , trait , alternate_id
405262212CV3212876single nucleotide variantNM_139215.3(TAF15):c.1383C>T (p.Gly461=)TAF15-related disorder [RCV003944752]likely benign173584468235844682Humanname , trait , alternate_id
405265594CV3215576single nucleotide variantNM_139215.3(TAF15):c.205G>T (p.Gly69Cys)TAF15-related disorder [RCV003946764]likely benign173582035235820352Humanname , trait , alternate_id
405276924CV3217685single nucleotide variantNM_139215.3(TAF15):c.1368T>A (p.Gly456=)TAF15-related disorder [RCV003974750]likely benign173584466735844667Humanname , trait , alternate_id
408377504CV3500759single nucleotide variantNM_139215.3(TAF15):c.1467C>T (p.Asp489=)not provided [RCV004722409]likely benign173584476635844766Humanname
408372522CV3510481single nucleotide variantNM_139215.3(TAF15):c.1320T>C (p.Asp440=)TAF15-related disorder [RCV004743076]likely benign173584461935844619Humanname , trait , alternate_id
408372454CV3510581single nucleotide variantNM_139215.3(TAF15):c.1095C>T (p.Cys365=)TAF15-related disorder [RCV004743092]likely benign173584428635844286Humanname , trait , alternate_id
408372527CV3511111single nucleotide variantNM_139215.3(TAF15):c.1248C>T (p.Gly416=)TAF15-related disorder [RCV004743166]likely benign173584454735844547Humanname , trait , alternate_id
408373368CV3515023single nucleotide variantNM_139215.3(TAF15):c.1473T>A (p.Gly491=)TAF15-related disorder [RCV004744843]likely benign173584477235844772Humanname , trait , alternate_id
408373534CV3515978single nucleotide variantNM_139215.3(TAF15):c.1431T>G (p.Gly477=)TAF15-related disorder [RCV004745003]likely benign173584473035844730Humanname , trait , alternate_id
408373548CV3516051single nucleotide variantNM_139215.3(TAF15):c.1428A>T (p.Gly476=)TAF15-related disorder [RCV004745011]likely benign173584472735844727Humanname , trait , alternate_id
408371998CV3517666single nucleotide variantNM_139215.3(TAF15):c.269A>G (p.Gln90Arg)TAF15-related disorder [RCV004742135]|not specified [RCV004867940]uncertain significance173582041635820416Human1name , trait , alternate_id
596947695CV3547276single nucleotide variantNM_139215.3(TAF15):c.1545T>C (p.Tyr515=)not provided [RCV004811580]likely benign173584484435844844Humanname
596947812CV3547396single nucleotide variantNM_139215.3(TAF15):c.1563C>T (p.Gly521=)not provided [RCV004811700]likely benign173584486235844862Humanname
598128813CV3886611single nucleotide variantNM_139215.3(TAF15):c.1485T>A (p.Gly495=)not provided [RCV005244271]likely benign173584478435844784Humanname
598128868CV3886667single nucleotide variantNM_139215.3(TAF15):c.1491C>T (p.Asp497=)not provided [RCV005244327]likely benign173584479035844790Humanname
598129023CV3886826single nucleotide variantNM_139215.3(TAF15):c.1500C>T (p.Gly500=)not provided [RCV005244486]likely benign173584479935844799Humanname
598129940CV3887364single nucleotide variantNM_139215.3(TAF15):c.1479C>T (p.Gly493=)not provided [RCV005245425]likely benign173584477835844778Humanname
598182034CV3919872single nucleotide variantNM_139215.3(TAF15):c.284C>T (p.Ser95Leu)not specified [RCV005286857]uncertain significance173582043135820431Humanname
617154576CV4022307single nucleotide variantNM_139215.3(TAF15):c.151A>G (p.Ser51Gly)not provided [RCV005429663]uncertain significance173582021535820215Humanname
14742622CV656426single nucleotide variantNM_139215.3(TAF15):c.154G>A (p.Gly52Ser)TAF15-related disorder [RCV003948034]|not provided [RCV000841520]likely benign173582021835820218Human1name , trait , alternate_id
15152434CV715386single nucleotide variantNM_139215.3(TAF15):c.1347C>T (p.Asp449=)TAF15-related disorder [RCV003916254]|not provided [RCV000968350]benign|likely benign173584464635844646Human1name , trait , alternate_id
15152438CV715387single nucleotide variantNM_139215.3(TAF15):c.1359T>C (p.Gly453=)TAF15-related disorder [RCV003916255]|not provided [RCV000968351]benign|likely benign173584465835844658Human1name , trait , alternate_id
15180366CV715389single nucleotide variantNM_139215.3(TAF15):c.1446T>C (p.Asp482=)TAF15-related disorder [RCV003962913]|not provided [RCV000974134]benign173584474535844745Human1name , trait , alternate_id
15152443CV715390single nucleotide variantNM_139215.3(TAF15):c.1686A>C (p.Arg562=)TAF15-related disorder [RCV003905950]|not provided [RCV000968352]benign|likely benign173584498535844985Human1name , trait , alternate_id
15166805CV740697single nucleotide variantNM_139215.3(TAF15):c.1665T>A (p.Gly555=)TAF15-related disorder [RCV003950630]|not provided [RCV000904521]likely benign173584496435844964Human1name , trait , alternate_id
15201523CV755790single nucleotide variantNM_139215.3(TAF15):c.1668C>T (p.Gly556=)TAF15-related disorder [RCV003950779]|not provided [RCV000913162]likely benign173584496735844967Human1name , trait , alternate_id
15194318CV771444single nucleotide variantNM_139215.3(TAF15):c.1248C>A (p.Gly416=)not provided [RCV000933609]likely benign173584454735844547Humanname
15099141CV771445single nucleotide variantNM_139215.3(TAF15):c.1314C>T (p.Ser438=)TAF15-related disorder [RCV003970602]|not provided [RCV000936429]likely benign173584461335844613Human1name , trait , alternate_id
15171767CV771446single nucleotide variantNM_139215.3(TAF15):c.1404A>C (p.Gly468=)TAF15-related disorder [RCV003960465]|not provided [RCV000927971]likely benign173584470335844703Human1name , trait , alternate_id
150549703CV1299608single nucleotide variantNM_139215.3(TAF15):c.436C>A (p.Gln146Lys)not provided [RCV001752534]uncertain significance173582278535822785Humanname
150527898CV1300903single nucleotide variantNM_139215.3(TAF15):c.927T>A (p.His309Gln)not provided [RCV001754763]uncertain significance173584238035842380Humanname
150550245CV1302709single nucleotide variantNM_139215.3(TAF15):c.446A>G (p.Tyr149Cys)not provided [RCV001752831]uncertain significance173582279535822795Humanname
156010685CV2291057single nucleotide variantNM_139215.3(TAF15):c.314A>G (p.Tyr105Cys)not specified [RCV004151589]uncertain significance173582266335822663Humanname
156383478CV2361575single nucleotide variantNM_139215.3(TAF15):c.530A>G (p.Tyr177Cys)not specified [RCV004221204]uncertain significance173582412335824123Humanname
329401470CV2460931single nucleotide variantNM_139215.3(TAF15):c.598G>A (p.Gly200Arg)not specified [RCV004265094]uncertain significance173582419135824191Humanname
401724776CV2693415single nucleotide variantNM_139215.3(TAF15):c.389A>C (p.Asp130Ala)not specified [RCV004295367]uncertain significance173582273835822738Humanname
401936493CV2798590single nucleotide variantNM_139215.3(TAF15):c.934A>G (p.Ile312Val)TAF15-related disorder [RCV003414505]|not specified [RCV004867868]uncertain significance173584238735842387Human1name , trait , alternate_id
405277761CV3196084single nucleotide variantNM_139215.3(TAF15):c.329A>G (p.Tyr110Cys)TAF15-related disorder [RCV003904603]uncertain significance173582267835822678Humanname , trait , alternate_id
405262168CV3220033single nucleotide variantNM_139215.3(TAF15):c.645C>G (p.His215Gln)TAF15-related disorder [RCV003967179]likely benign173583457035834570Humanname , trait , alternate_id
405745374CV3331398single nucleotide variantNM_139215.3(TAF15):c.416A>G (p.His139Arg)not specified [RCV004466309]uncertain significance173582276535822765Humanname
405745383CV3331399single nucleotide variantNM_139215.3(TAF15):c.782A>T (p.Lys261Met)not specified [RCV004466310]uncertain significance173583624035836240Humanname
597781768CV3615463single nucleotide variantNM_139215.3(TAF15):c.670G>T (p.Ala224Ser)not specified [RCV004874151]uncertain significance173583459535834595Humanname
597794727CV3615468single nucleotide variantNM_139215.3(TAF15):c.986G>C (p.Gly329Ala)not specified [RCV004877952]uncertain significance173584243935842439Humanname
597781786CV3615469single nucleotide variantNM_139215.3(TAF15):c.478A>C (p.Thr160Pro)not specified [RCV004874155]uncertain significance173582282735822827Humanname
597715898CV3708928single nucleotide variantNM_139215.3(TAF15):c.305C>T (p.Ala102Val)Extraskeletal myxoid chondrosarcoma [RCV005010206]uncertain significance173582265435822654Human1name
598182030CV3919871single nucleotide variantNM_139215.3(TAF15):c.379G>A (p.Gly127Ser)not specified [RCV005286856]uncertain significance173582272835822728Humanname
15171321CV740695single nucleotide variantNM_139215.3(TAF15):c.365A>G (p.Tyr122Cys)TAF15-related disorder [RCV003950649]|not provided [RCV000905444]likely benign173582271435822714Human1name , trait , alternate_id
150424228CV1185247single nucleotide variantNM_139215.3(TAF15):c.1388A>G (p.Tyr463Cys)not provided [RCV001556387]|not specified [RCV004039310]likely benign|uncertain significance173584468735844687Humanname
150453628CV1205675single nucleotide variantNM_139215.3(TAF15):c.1364A>G (p.Tyr455Cys)TAF15-related disorder [RCV004743554]|not provided [RCV001585576]likely benign|uncertain significance173584466335844663Human1name , trait , alternate_id
150497382CV1219397single nucleotide variantNM_139215.3(TAF15):c.1163G>A (p.Arg388His)TAF15-related disorder [RCV003941049]|not provided [RCV001620066]benign|likely benign173584435435844354Human1name , trait , alternate_id
150530710CV1293471single nucleotide variantNM_139215.3(TAF15):c.1418G>A (p.Gly473Glu)TAF15-related disorder [RCV003401674]|not provided [RCV001756692]uncertain significance173584471735844717Human1name , trait , alternate_id
150528292CV1301819single nucleotide variantNM_139215.3(TAF15):c.1358G>T (p.Gly453Val)not provided [RCV001755191]uncertain significance173584465735844657Humanname
152980171CV1675870single nucleotide variantNM_139215.3(TAF15):c.1172G>A (p.Gly391Glu)not provided [RCV002244461]uncertain significance173584436335844363Humanname
155800568CV1863695single nucleotide variantNM_139215.3(TAF15):c.1331G>A (p.Gly444Asp)not provided [RCV002474118]uncertain significance173584463035844630Humanname
156145872CV2196836single nucleotide variantNM_139215.3(TAF15):c.1448G>A (p.Arg483Gln)TAF15-related disorder [RCV003404139]|not specified [RCV004069845]uncertain significance173584474735844747Human1name , trait , alternate_id
155966457CV2216683single nucleotide variantNM_139215.3(TAF15):c.1424G>A (p.Arg475Gln)not specified [RCV004083137]uncertain significance173584472335844723Humanname
155932523CV2232109single nucleotide variantNM_139215.3(TAF15):c.1603C>G (p.Arg535Gly)not specified [RCV004093144]uncertain significance173584490235844902Humanname
156273259CV2277709single nucleotide variantNM_139215.3(TAF15):c.1138A>T (p.Asn380Tyr)not specified [RCV004147153]uncertain significance173584432935844329Humanname
156073954CV2294691single nucleotide variantNM_139215.3(TAF15):c.1012G>A (p.Gly338Arg)not specified [RCV004161936]uncertain significance173584408235844082Humanname
156356772CV2318173single nucleotide variantNM_139215.3(TAF15):c.1324A>T (p.Ser442Cys)not specified [RCV004179362]uncertain significance173584462335844623Humanname
156185710CV2324681single nucleotide variantNM_139215.3(TAF15):c.1766A>G (p.Asn589Ser)not specified [RCV004172925]uncertain significance173584693235846932Humanname
155980504CV2343531single nucleotide variantNM_139215.3(TAF15):c.1604G>A (p.Arg535His)TAF15-related disorder [RCV003410213]|not specified [RCV004190567]uncertain significance173584490335844903Human1name , trait , alternate_id
156005639CV2394033single nucleotide variantNM_139215.3(TAF15):c.1583G>A (p.Arg528Gln)not specified [RCV004236251]uncertain significance173584488235844882Humanname
329366067CV2438064single nucleotide variantNM_139215.3(TAF15):c.1447C>G (p.Arg483Gly)not specified [RCV004256853]uncertain significance173584474635844746Humanname
329393947CV2449979single nucleotide variantNM_139215.3(TAF15):c.1666G>A (p.Gly556Ser)not specified [RCV004269043]uncertain significance173584496535844965Humanname
329364266CV2467352single nucleotide variantNM_139215.3(TAF15):c.1564T>C (p.Tyr522His)not specified [RCV004285142]uncertain significance173584486335844863Humanname
329392873CV2469025single nucleotide variantNM_139215.3(TAF15):c.1412A>G (p.Tyr471Cys)not specified [RCV004274275]uncertain significance173584471135844711Humanname
401727891CV2678557single nucleotide variantNM_139215.3(TAF15):c.1096G>A (p.Gly366Arg)not specified [RCV004292567]uncertain significance173584428735844287Humanname
401934623CV2796146single nucleotide variantNM_139215.3(TAF15):c.1184G>A (p.Arg395Gln)TAF15-related disorder [RCV003412046]|not provided [RCV004798042]uncertain significance173584448335844483Human1name , trait , alternate_id
401934660CV2796265single nucleotide variantNM_139215.3(TAF15):c.1222C>T (p.Arg408Cys)TAF15-related disorder [RCV003412084]uncertain significance173584452135844521Humanname , trait , alternate_id
401903066CV2797811single nucleotide variantNM_139215.3(TAF15):c.1535G>A (p.Arg512Gln)TAF15-related disorder [RCV003419245]uncertain significance173584483435844834Humanname , trait , alternate_id
401903083CV2797836single nucleotide variantNM_139215.3(TAF15):c.1588G>A (p.Gly530Ser)TAF15-related disorder [RCV003419254]uncertain significance173584488735844887Humanname , trait , alternate_id
401933769CV2799780single nucleotide variantNM_139215.3(TAF15):c.1634G>A (p.Arg545Gln)TAF15-related disorder [RCV003410645]uncertain significance173584493335844933Humanname , trait , alternate_id
401923358CV2803185single nucleotide variantNM_139215.3(TAF15):c.1667G>A (p.Gly556Asp)TAF15-related disorder [RCV003404407]uncertain significance173584496635844966Humanname , trait , alternate_id
405267367CV3205430single nucleotide variantNM_139215.3(TAF15):c.1384G>A (p.Gly462Ser)TAF15-related disorder [RCV003947353]|not provided [RCV005422455]likely benign|uncertain significance173584468335844683Human1name , trait , alternate_id
407506342CV3478537single nucleotide variantNM_139215.3(TAF15):c.1312A>G (p.Ser438Gly)not specified [RCV004671090]likely benign173584461135844611Humanname
408372420CV3510153single nucleotide variantNM_139215.3(TAF15):c.1357G>A (p.Gly453Ser)TAF15-related disorder [RCV004743011]uncertain significance173584465635844656Humanname , trait , alternate_id
408372380CV3510196single nucleotide variantNM_139215.3(TAF15):c.1739G>A (p.Arg580Lys)TAF15-related disorder [RCV004743017]uncertain significance173584503835845038Humanname , trait , alternate_id
408372474CV3510706single nucleotide variantNM_139215.3(TAF15):c.1009C>T (p.Arg337Cys)TAF15-related disorder [RCV004743113]uncertain significance173584407935844079Humanname , trait , alternate_id
408373525CV3515941single nucleotide variantNM_139215.3(TAF15):c.1457A>G (p.Tyr486Cys)TAF15-related disorder [RCV004744994]uncertain significance173584475635844756Humanname , trait , alternate_id
596930874CV3529715single nucleotide variantNM_139215.3(TAF15):c.1651G>A (p.Gly551Arg)not provided [RCV004780764]uncertain significance173584495035844950Humanname
596933025CV3539654single nucleotide variantNM_139215.3(TAF15):c.1315G>A (p.Gly439Arg)not provided [RCV004794279]uncertain significance173584461435844614Humanname
596933026CV3539655single nucleotide variantNM_139215.3(TAF15):c.1318G>A (p.Asp440Asn)not provided [RCV004794280]uncertain significance173584461735844617Humanname
597632279CV3552813single nucleotide variantNM_139215.3(TAF15):c.1151C>G (p.Pro384Arg)not provided [RCV004823641]uncertain significance173584434235844342Humanname
597781764CV3615462single nucleotide variantNM_139215.3(TAF15):c.1731G>T (p.Met577Ile)not specified [RCV004874150]uncertain significance173584503035845030Humanname
597781773CV3615464single nucleotide variantNM_139215.3(TAF15):c.1246G>A (p.Gly416Ser)not specified [RCV004874152]uncertain significance173584454535844545Humanname
597781777CV3615465single nucleotide variantNM_139215.3(TAF15):c.1363T>A (p.Tyr455Asn)not specified [RCV004874153]uncertain significance173584466235844662Humanname
597781781CV3615467single nucleotide variantNM_139215.3(TAF15):c.1016G>T (p.Gly339Val)not specified [RCV004874154]uncertain significance173584408635844086Humanname
597781789CV3615470single nucleotide variantNM_139215.3(TAF15):c.1616G>T (p.Ser539Ile)not specified [RCV004874156]uncertain significance173584491535844915Humanname
598182038CV3919873single nucleotide variantNM_139215.3(TAF15):c.1037T>C (p.Phe346Ser)not specified [RCV005286858]uncertain significance173584410735844107Humanname
598182042CV3919874single nucleotide variantNM_139215.3(TAF15):c.1424G>C (p.Arg475Pro)not specified [RCV005286859]uncertain significance173584472335844723Humanname
598182051CV3919876single nucleotide variantNM_139215.3(TAF15):c.1543T>G (p.Tyr515Asp)not specified [RCV005286861]uncertain significance173584484235844842Humanname
598182055CV3919877single nucleotide variantNM_139215.3(TAF15):c.1585G>A (p.Gly529Arg)not specified [RCV005286862]uncertain significance173584488435844884Humanname
15110689CV727118single nucleotide variantNM_139215.3(TAF15):c.1624G>A (p.Gly542Ser)TAF15-related disorder [RCV003940753]|not provided [RCV000894119]benign173584492335844923Human1name , trait , alternate_id
150428486CV1188525deletionNM_139215.3(TAF15):c.1524_1544del (p.492GGYGGDR[4])TAF15-related disorder [RCV003966194]|not provided [RCV001562326]benign|likely benign173584480335844823Human1name , trait , alternate_id
150446472CV1201730deletionNM_139215.3(TAF15):c.1542_1562del (p.492GGYGGDR[4])TAF15-related disorder [RCV003910911]|not provided [RCV001584598]likely benign173584482435844844Human1name , trait , alternate_id
150514680CV1228596duplicationNM_139215.3(TAF15):c.1524_1544dup (p.492GGYGGDR[6])TAF15-related disorder [RCV003968411]|not provided [RCV001638584]benign|likely benign173584480235844803Human1name , trait , alternate_id
405274849CV3204441deletionNM_139215.3(TAF15):c.1446_1466del (p.479YGGDRGG[1])TAF15-related disorder [RCV003951883]likely benign173584472635844746Humanname , trait , alternate_id
150429359CV1188524duplicationNM_139215.3(TAF15):c.1392_1415dup (p.454GYGGDRGG[5])TAF15-related disorder [RCV003956251]|not provided [RCV001563494]likely benign173584467935844680Human1name , trait , alternate_id
150529762CV1293168deletionNM_139215.3(TAF15):c.1380_1403del (p.454GYGGDRGG[3])TAF15-related disorder [RCV003941118]|not provided [RCV001756386]benign|likely benign173584465935844682Human1name , trait , alternate_id
401920534CV2804100deletionNM_139215.3(TAF15):c.1407_1430del (p.454GYGGDRGG[3])TAF15-related disorder [RCV003402665]uncertain significance173584469935844722Humanname , trait , alternate_id
405264361CV3189932deletionNM_139215.3(TAF15):c.1674_1697del (p.557GYGGDRGG[1])TAF15-related disorder [RCV003896977]uncertain significance173584496835844991Humanname , trait , alternate_id
405275308CV3204763deletionNM_139215.3(TAF15):c.1692_1715del (p.557GYGGDRGG[1])TAF15-related disorder [RCV003952144]likely benign173584497435844997Humanname , trait , alternate_id
408373010CV3513819deletionNM_139215.3(TAF15):c.1368_1415del (p.454GYGGDRGG[2])TAF15-related disorder [RCV004744121]uncertain significance173584465935844706Humanname , trait , alternate_id
150425155CV1185246duplicationNM_139215.3(TAF15):c.1344_1370dup (p.442SGGGYGGDR[3])TAF15-related disorder [RCV003921216]|not provided [RCV001557630]likely benign173584463135844632Human1name , trait , alternate_id
150450336CV1232668deletionNM_139215.3(TAF15):c.1351_1377del (p.442SGGGYGGDR[1])TAF15-related disorder [RCV003931256]|not provided [RCV001647743]benign|likely benign173584464435844670Human1name , trait , alternate_id
150553992CV1298392deletionNM_139215.3(TAF15):c.1320_1346del (p.442SGGGYGGDR[1])not provided [RCV001770591]uncertain significance173584461435844640Humanname
405271556CV3209483deletionNM_139215.3(TAF15):c.1344_1370del (p.442SGGGYGGDR[1])TAF15-related disorder [RCV003949798]benign173584463235844658Humanname , trait , alternate_id
405270460CV3211454deletionNM_139215.3(TAF15):c.1332_1358del (p.442SGGGYGGDR[1])TAF15-related disorder [RCV003949343]|not provided [RCV004780688]likely benign|uncertain significance173584462035844646Human1name , trait , alternate_id
150495759CV1205897deletionNM_139215.3(TAF15):c.1287_1370del (p.Ser432_Arg459del)not provided [RCV001593579]uncertain significance173584454535844628Humanname
150551368CV1297328duplicationNM_139215.3(TAF15):c.1269_1295dup (p.Gly424_Ser432dup)TAF15-related disorder [RCV003948706]|not provided [RCV001767010]likely benign|uncertain significance173584454735844548Human1name , trait , alternate_id
401933959CV2797814deletionNM_139215.3(TAF15):c.1605_1685del (p.Ser539_Gly565del)TAF15-related disorder [RCV003410714]|not provided [RCV003481505]uncertain significance173584488735844967Human1name , trait , alternate_id
405286176CV3192073deletionNM_139215.3(TAF15):c.1269_1295del (p.Gly424_Ser432del)TAF15-related disorder [RCV003923995]likely benign173584454835844574Humanname , trait , alternate_id
405270244CV3198070deletionNM_139215.3(TAF15):c.1278_1304del (p.Tyr427_Gly435del)TAF15-related disorder [RCV003899880]likely benign173584457235844598Humanname , trait , alternate_id
408365635CV3500031indelNM_139215.3(TAF15):c.1338_1341delinsCAGC (p.Gly447Ser)not provided [RCV004722074]uncertain significance173584463735844640Humanname
15168610CV715388deletionNM_139215.3(TAF15):c.1392_1415del (p.454_461GYGGDRGG[3])TAF15-related disorder [RCV003918470]|not provided [RCV000971649]benign173584468035844703Human1name , trait , alternate_id
15200150CV727117deletionNM_139215.3(TAF15):c.1422_1445del (p.454_461GYGGDRGG[3])TAF15-related disorder [RCV003930789]|not provided [RCV000890833]benign|likely benign173584470735844730Human1name , trait , alternate_id
405262093CV3220011deletionNM_139215.3(TAF15):c.1428_1472del (p.478GYGGDRGGYGGDRGG[1])TAF15-related disorder [RCV003967159]|not provided [RCV004759343]likely benign|uncertain significance173584470735844751Human1name , trait , alternate_id
405258838CV3215116duplicationNM_139215.3(TAF15):c.1542_1562dup (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArg)TAF15-related disorder [RCV003942171]likely benign173584482335844824Humanname , trait , alternate_id
408372614CV3511543duplicationNM_139215.3(TAF15):c.1380_1403dup (p.Gly485_Tyr486insGlyTyrGlyGlyAspArgGlyGly)TAF15-related disorder [RCV004743744]uncertain significance173584465835844659Humanname , trait , alternate_id
405291714CV3206048duplicationNM_139215.3(TAF15):c.1351_1377dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)TAF15-related disorder [RCV003964136]likely benign173584464335844644Humanname , trait , alternate_id
405274487CV3208795duplicationNM_139215.3(TAF15):c.1332_1358dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)TAF15-related disorder [RCV003951600]|not provided [RCV005052077]likely benign|uncertain significance173584461935844620Human1name , trait , alternate_id
405261366CV3209907duplicationNM_139215.3(TAF15):c.1428_1472dup (p.Gly507_Tyr508insGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArgGlyGly)TAF15-related disorder [RCV003944509]likely benign173584470635844707Humanname , trait , alternate_id
401936201CV2802829microsatelliteNM_139215.3(TAF15):c.1542TTATGGAGGAGATCGAGGAGG[3] (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArg)TAF15-related disorder [RCV003414178]uncertain significance173584482335844824Humanname , trait , alternate_id