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Variants search result for All species
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803 records found for search term Brd4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
617154536CV4022380single nucleotide variantNM_001379291.1(BRD4):c.-5C>Gnot provided [RCV005429737]uncertain significance191527310415273104Humanname
405242314CV3014592single nucleotide variantNM_001379291.1(BRD4):c.285+8G>Anot provided [RCV003719362]likely benign191527280715272807Humanname
597899549CV3740951single nucleotide variantNM_001379291.1(BRD4):c.850-9T>Gnot provided [RCV005072114]likely benign191526477515264775Humanname
150510437CV1211679single nucleotide variantNM_001379291.1(BRD4):c.285+44G>Tnot provided [RCV001597573]benign191527277115272771Humanname
152982687CV1677607single nucleotide variantNM_001379291.1(BRD4):c.4020+1G>ADe Lange syndrome [RCV002249318]pathogenic191523874215238742Human1name
156404129CV1886561single nucleotide variantNM_001379291.1(BRD4):c.2582-7C>Tnot provided [RCV003069635]likely benign191524349415243494Humanname
156286216CV1897141single nucleotide variantNM_001379291.1(BRD4):c.2211+5A>Gnot provided [RCV003087296]uncertain significance191524470515244705Humanname
156403627CV1920132single nucleotide variantNM_001379291.1(BRD4):c.1752-4G>Anot provided [RCV002605932]likely benign191525559615255596Humanname
156445942CV1950966single nucleotide variantNM_001379291.1(BRD4):c.1341+8T>Cnot provided [RCV003116905]likely benign191526341215263412Humanname
156081724CV2022896single nucleotide variantNM_001379291.1(BRD4):c.560-13T>Cnot provided [RCV002760647]likely benign191526565615265656Humanname
156271417CV2026969single nucleotide variantNM_001379291.1(BRD4):c.850-12T>Cnot provided [RCV002746653]likely benign191526477815264778Humanname
155921254CV2027527single nucleotide variantNM_001379291.1(BRD4):c.850-18C>Tnot provided [RCV002750728]likely benign191526478415264784Humanname
155984140CV2030305single nucleotide variantNM_001379291.1(BRD4):c.2047+3G>Anot provided [RCV002755461]uncertain significance191525529415255294Humanname
156085286CV2034011single nucleotide variantNM_001379291.1(BRD4):c.560-19G>Anot provided [RCV002760757]likely benign191526566215265662Humanname
155964377CV2034135single nucleotide variantNM_001379291.1(BRD4):c.560-20C>Tnot provided [RCV002731324]likely benign191526566315265663Humanname
156204981CV2092676single nucleotide variantNM_001379291.1(BRD4):c.2158+9A>Tnot provided [RCV002917928]likely benign191525414315254143Humanname
156309519CV2109437single nucleotide variantNM_001379291.1(BRD4):c.3782+9G>Tnot provided [RCV002922990]benign191523905015239050Humanname
156117014CV2115759single nucleotide variantNM_001379291.1(BRD4):c.560-10T>Cnot provided [RCV002927661]benign191526565315265653Humanname
156312662CV2120119single nucleotide variantNM_001379291.1(BRD4):c.3576+3T>Cnot provided [RCV002962710]likely benign191523938915239389Humanname
155956514CV2120437single nucleotide variantNM_001379291.1(BRD4):c.2212-8G>Cnot provided [RCV002972153]likely benign191524460815244608Humanname
156131768CV2121627single nucleotide variantNM_001379291.1(BRD4):c.1552-9G>Cnot provided [RCV002953905]likely benign191525627215256272Humanname
156223224CV2121674single nucleotide variantNM_001379291.1(BRD4):c.3170-5C>Gnot provided [RCV002958226]likely benign191524002715240027Humanname
156100503CV2132263single nucleotide variantNM_001379291.1(BRD4):c.3169+8G>Tnot provided [RCV003002194]benign191524289215242892Humanname
156271444CV2136554single nucleotide variantNM_001379291.1(BRD4):c.1342-3C>Tnot provided [RCV003009280]uncertain significance191525717615257176Humanname
156314528CV2160715single nucleotide variantNM_001379291.1(BRD4):c.1341+3G>Anot provided [RCV003046222]uncertain significance191526341715263417Humanname
156359394CV2162341single nucleotide variantNM_001379291.1(BRD4):c.2582-4C>Tnot provided [RCV003031453]likely benign191524349115243491Humanname
156035573CV2178500single nucleotide variantNM_001379291.1(BRD4):c.3283-9C>Tnot provided [RCV003036363]likely benign191523983015239830Humanname
156004978CV2179399single nucleotide variantNM_001379291.1(BRD4):c.286-13C>Tnot provided [RCV003034949]likely benign191526905515269055Humanname
156358145CV2187287single nucleotide variantNM_001379291.1(BRD4):c.2211+5A>Tnot provided [RCV003048833]uncertain significance191524470515244705Humanname
243063776CV2405182single nucleotide variantNM_001379291.1(BRD4):c.3282+2T>CCornelia de Lange-like syndrome [RCV003225266]likely pathogenic191523990815239908Humanname
405072951CV2941203single nucleotide variantNM_001379291.1(BRD4):c.1552-5T>Cnot provided [RCV003664092]likely benign191525626815256268Humanname
405094793CV2947131single nucleotide variantNM_001379291.1(BRD4):c.1341+9T>Gnot provided [RCV003665423]likely benign191526341115263411Humanname
405192333CV2965033single nucleotide variantNM_001379291.1(BRD4):c.850-13G>Anot provided [RCV003677319]likely benign191526477915264779Humanname
405235431CV2972543single nucleotide variantNM_001379291.1(BRD4):c.3445+8C>Tnot provided [RCV003682911]likely benign191523965115239651Humanname
405123882CV3021087single nucleotide variantNM_001379291.1(BRD4):c.286-18T>Cnot provided [RCV003701045]likely benign191526906015269060Humanname
405149246CV3024196single nucleotide variantNM_001379291.1(BRD4):c.285+16A>Cnot provided [RCV003703089]likely benign191527279915272799Humanname
405141119CV3029776single nucleotide variantNM_001379291.1(BRD4):c.2581+7C>Tnot provided [RCV003702415]likely benign191524422415244224Humanname
405199611CV3032877deletionNM_001379291.1(BRD4):c.3282+4delnot provided [RCV003707237]uncertain significance191523990615239906Humanname
405165553CV3059391single nucleotide variantNM_001379291.1(BRD4):c.3782+9G>Anot provided [RCV003727293]likely benign191523905015239050Humanname
596920322CV3534503single nucleotide variantNM_001379291.1(BRD4):c.1213-4C>Anot specified [RCV004782064]uncertain significance191526355215263552Humanname
597909384CV3806470single nucleotide variantNM_001379291.1(BRD4):c.1212+7G>Anot provided [RCV005154037]likely benign191526439715264397Humanname
597960894CV3811988single nucleotide variantNM_001379291.1(BRD4):c.850-14C>Tnot provided [RCV005163641]likely benign191526478015264780Humanname
597862026CV3822595single nucleotide variantNM_001379291.1(BRD4):c.559+19A>Gnot provided [RCV005175125]likely benign191526739715267397Humanname
597862997CV3822748single nucleotide variantNM_001379291.1(BRD4):c.850-17G>Anot provided [RCV005175280]likely benign191526478315264783Humanname
597880594CV3826407single nucleotide variantNM_001379291.1(BRD4):c.2158+8G>Anot provided [RCV005178104]likely benign191525414415254144Humanname
597893016CV3833369single nucleotide variantNM_001379291.1(BRD4):c.3783-3C>Tnot provided [RCV005180061]uncertain significance191523898315238983Humanname
597914247CV3833905single nucleotide variantNM_001379291.1(BRD4):c.1551+6G>Cnot provided [RCV005183264]uncertain significance191525695815256958Humanname
597942153CV3847192single nucleotide variantNM_001379291.1(BRD4):c.3782+7G>Anot provided [RCV005188112]likely benign191523905215239052Humanname
598224752CV3891955single nucleotide variantNM_001379291.1(BRD4):c.4020+1G>CCornelia de Lange syndrome 6 [RCV005253294]uncertain significance191523874215238742Human1name
15130069CV760582single nucleotide variantNM_001379291.1(BRD4):c.1342-8C>TBRD4-related disorder [RCV003942834]|not provided [RCV000919940]benign|likely benign191525718115257181Human1name , trait , alternate_id
15099518CV778508single nucleotide variantNM_001379291.1(BRD4):c.4020+9G>TBRD4-related disorder [RCV003905792]|not provided [RCV000958773]benign|likely benign191523873415238734Human1name , trait , alternate_id
15202466CV778510single nucleotide variantNM_001379291.1(BRD4):c.1341+6G>Cnot provided [RCV000957924]benign191526341415263414Humanname
150340337CV1168421single nucleotide variantNM_001379291.1(BRD4):c.285+110G>Anot provided [RCV001535257]benign191527270515272705Humanname
150336465CV1173195single nucleotide variantNM_001379291.1(BRD4):c.3446-34G>Anot provided [RCV001541001]benign191523955615239556Humanname
150454531CV1259404duplicationNM_001379291.1(BRD4):c.286-206dupnot provided [RCV001681178]benign191526924415269245Humanname
150508849CV1284386duplicationNM_001379291.1(BRD4):c.2047+89dupnot provided [RCV001720494]benign191525519915255200Humanname
152049205CV1615103single nucleotide variantNM_001379291.1(BRD4):c.2158+15G>Anot provided [RCV002088931]likely benign191525413715254137Humanname
156079494CV2022616single nucleotide variantNM_001379291.1(BRD4):c.3446-18C>Tnot provided [RCV002760578]benign191523954015239540Humanname
156151178CV2023060single nucleotide variantNM_001379291.1(BRD4):c.1552-15C>Tnot provided [RCV002741229]likely benign191525627815256278Humanname
156154900CV2023264single nucleotide variantNM_001379291.1(BRD4):c.2158+20A>Gnot provided [RCV002741344]likely benign191525413215254132Humanname
156050288CV2027276single nucleotide variantNM_001379291.1(BRD4):c.1752-13C>Tnot provided [RCV002736488]uncertain significance191525560515255605Humanname
156245820CV2029376single nucleotide variantNM_001379291.1(BRD4):c.1752-20T>Cnot provided [RCV002745822]benign191525561215255612Humanname
155959073CV2029750single nucleotide variantNM_001379291.1(BRD4):c.3576+18T>Cnot provided [RCV002731088]benign191523937415239374Humanname
155910371CV2032867single nucleotide variantNM_001379291.1(BRD4):c.2048-16A>Gnot provided [RCV002750090]likely benign191525427815254278Humanname
155914730CV2033217single nucleotide variantNM_001379291.1(BRD4):c.3169+17C>Tnot provided [RCV002750398]likely benign191524288315242883Humanname
155914809CV2033247single nucleotide variantNM_001379291.1(BRD4):c.3170-17C>Tnot provided [RCV002750403]likely benign191524003915240039Humanname
155955129CV2033352single nucleotide variantNM_001379291.1(BRD4):c.3169+18G>Anot provided [RCV002730887]benign191524288215242882Humanname
155963715CV2034083single nucleotide variantNM_001379291.1(BRD4):c.1341+18G>Anot provided [RCV002731296]likely benign191526340215263402Humanname
156313079CV2079041single nucleotide variantNM_001379291.1(BRD4):c.1341+11G>Anot provided [RCV002898830]likely benign191526340915263409Humanname
156236170CV2081805single nucleotide variantNM_001379291.1(BRD4):c.2047+10G>Tnot provided [RCV002876428]likely benign191525528715255287Humanname
155980468CV2090312single nucleotide variantNM_001379291.1(BRD4):c.2211+17G>Anot provided [RCV002881908]likely benign191524469315244693Humanname
156162672CV2135516single nucleotide variantNM_001379291.1(BRD4):c.1752-10C>Tnot provided [RCV002983063]likely benign191525560215255602Humanname
156199624CV2153736single nucleotide variantNM_001379291.1(BRD4):c.1341+10G>Tnot provided [RCV003006277]likely benign191526341015263410Humanname
156309794CV2163964single nucleotide variantNM_001379291.1(BRD4):c.1341+16G>Anot provided [RCV003045965]likely benign191526340415263404Humanname
156102093CV2180133single nucleotide variantNM_001379291.1(BRD4):c.4021-13C>Tnot provided [RCV003054764]|not specified [RCV004526219]likely benign191523845815238458Humanname
405019486CV2866205duplicationNM_001379291.1(BRD4):c.1751+12dupnot provided [RCV003577467]benign191525605115256052Humanname
405111076CV2903013single nucleotide variantNM_001379291.1(BRD4):c.1552-12T>Anot provided [RCV003557902]likely benign191525627515256275Humanname
402509099CV2938478single nucleotide variantNM_001379291.1(BRD4):c.1551+16G>Tnot provided [RCV003662383]likely benign191525694815256948Humanname
405065351CV2939895single nucleotide variantNM_001379291.1(BRD4):c.3446-10T>Cnot provided [RCV003659016]likely benign191523953215239532Humanname
405073283CV2941076single nucleotide variantNM_001379291.1(BRD4):c.3446-17G>Anot provided [RCV003664019]likely benign191523953915239539Humanname
402487873CV2941381single nucleotide variantNM_001379291.1(BRD4):c.3169+14A>Gnot provided [RCV003660180]likely benign191524288615242886Humanname
405081521CV2941835single nucleotide variantNM_001379291.1(BRD4):c.3170-14G>Cnot provided [RCV003664628]likely benign191524003615240036Humanname
405145599CV2955239single nucleotide variantNM_001379291.1(BRD4):c.3576+20G>Tnot provided [RCV003673531]likely benign191523937215239372Humanname
405120830CV2993974single nucleotide variantNM_001379291.1(BRD4):c.3283-16G>Anot provided [RCV003723798]likely benign191523983715239837Humanname
405134479CV3018507single nucleotide variantNM_001379291.1(BRD4):c.2048-13G>Tnot provided [RCV003701982]benign191525427515254275Humanname
405146959CV3023944single nucleotide variantNM_001379291.1(BRD4):c.2158+14T>Gnot provided [RCV003702934]likely benign191525413815254138Humanname
405090246CV3025279single nucleotide variantNM_001379291.1(BRD4):c.1752-12G>Tnot provided [RCV003699686]uncertain significance191525560415255604Humanname
405179711CV3027598single nucleotide variantNM_001379291.1(BRD4):c.3576+18T>Anot provided [RCV003705324]likely benign191523937415239374Humanname
405171702CV3030229single nucleotide variantNM_001379291.1(BRD4):c.1552-16C>Tnot provided [RCV003704735]likely benign191525627915256279Humanname
405067020CV3030760single nucleotide variantNM_001379291.1(BRD4):c.3283-12G>Anot provided [RCV003698007]likely benign191523983315239833Humanname
405069324CV3031068single nucleotide variantNM_001379291.1(BRD4):c.1752-12G>Anot provided [RCV003698223]benign191525560415255604Humanname
405220322CV3032044single nucleotide variantNM_001379291.1(BRD4):c.4020+11A>Tnot provided [RCV003709830]likely benign191523873215238732Humanname
405199728CV3032817single nucleotide variantNM_001379291.1(BRD4):c.2212-12C>Tnot provided [RCV003707195]likely benign191524461215244612Humanname
405218530CV3034911single nucleotide variantNM_001379291.1(BRD4):c.1213-19G>Anot provided [RCV003709638]likely benign191526356715263567Humanname
405220103CV3035138single nucleotide variantNM_001379291.1(BRD4):c.3282+19C>Tnot provided [RCV003709785]likely benign191523989115239891Humanname
405201287CV3041223single nucleotide variantNM_001379291.1(BRD4):c.2159-16C>Tnot provided [RCV003707384]likely benign191524477815244778Humanname
597908226CV3769883single nucleotide variantNM_001379291.1(BRD4):c.3283-16G>Cnot provided [RCV005113386]likely benign191523983715239837Humanname
597958865CV3797400single nucleotide variantNM_001379291.1(BRD4):c.1212+10A>Cnot provided [RCV005138087]likely benign191526439415264394Humanname
597951773CV3815427single nucleotide variantNM_001379291.1(BRD4):c.1751+12C>Tnot provided [RCV005161377]likely benign191525605215256052Humanname
597929309CV3816174single nucleotide variantNM_001379291.1(BRD4):c.2582-17G>Tnot provided [RCV005156755]likely benign191524350415243504Humanname
597876959CV3825709single nucleotide variantNM_001379291.1(BRD4):c.2212-12C>Gnot provided [RCV005177583]likely benign191524461215244612Humanname
597909166CV3829987single nucleotide variantNM_001379291.1(BRD4):c.1752-15A>Gnot provided [RCV005182556]likely benign191525560715255607Humanname
597971948CV3833260single nucleotide variantNM_001379291.1(BRD4):c.3445+15T>Cnot provided [RCV005167157]likely benign191523964415239644Humanname
597883868CV3834832single nucleotide variantNM_001379291.1(BRD4):c.2158+18C>Anot provided [RCV005178555]likely benign191525413415254134Humanname
15135861CV760823single nucleotide variantNM_001379291.1(BRD4):c.1212+10A>Tnot provided [RCV000920918]benign191526439415264394Humanname
150452103CV1276684single nucleotide variantNM_001379291.1(BRD4):c.1342-108C>Tnot provided [RCV001708473]benign191525728115257281Humanname
150443928CV1277922single nucleotide variantNM_001379291.1(BRD4):c.1342-144C>Tnot provided [RCV001707065]benign191525731715257317Humanname
152101667CV1667116single nucleotide variantNM_001379291.1(BRD4):c.2158+767G>Anot provided [RCV002214102]benign191525338515253385Humanname
329352228CV2476742single nucleotide variantNM_001379291.1(BRD4):c.2158+155C>Gnot provided [RCV003222974]likely benign191525399715253997Humanname
401725891CV2735991single nucleotide variantNM_001379291.1(BRD4):c.2158+510C>Gnot provided [RCV003312436]benign|likely benign191525364215253642Humanname
401908493CV2811723single nucleotide variantNM_001379291.1(BRD4):c.2159-620C>Tnot provided [RCV003423398]benign|likely benign191524538215245382Humanname
401907021CV2811724single nucleotide variantNM_001379291.1(BRD4):c.2159-928G>Cnot provided [RCV003421884]benign191524569015245690Humanname
401908509CV2811749single nucleotide variantNM_001379291.1(BRD4):c.2158+421T>Gnot provided [RCV003423410]uncertain significance191525373115253731Humanname
405264099CV3184973single nucleotide variantNM_001379291.1(BRD4):c.2158+577C>Tnot provided [RCV003885537]likely benign191525357515253575Humanname
405259594CV3195113single nucleotide variantNM_001379291.1(BRD4):c.2158+499G>ABRD4-related disorder [RCV003894310]likely benign191525365315253653Humanname , trait , alternate_id
405265690CV3220830single nucleotide variantNM_001379291.1(BRD4):c.2158+424C>TBRD4-related disorder [RCV003969004]likely benign191525372815253728Humanname , trait , alternate_id
408377953CV3500887single nucleotide variantNM_001379291.1(BRD4):c.2158+437C>Tnot provided [RCV004722537]likely benign191525371515253715Humanname
596948086CV3547680single nucleotide variantNM_001379291.1(BRD4):c.2158+527A>Gnot provided [RCV004811985]likely benign191525362515253625Humanname
152101654CV1667114single nucleotide variantNM_001379291.1(BRD4):c.2159-1639C>Tnot provided [RCV002214100]benign191524640115246401Humanname
152101660CV1667115deletionNM_001379291.1(BRD4):c.2159-4254delnot provided [RCV002214101]benign191524901615249016Humanname
153304889CV1687336single nucleotide variantNM_001379291.1(BRD4):c.2159-3571A>Cnot provided [RCV002263154]benign191524833315248333Humanname
153304890CV1687337single nucleotide variantNM_001379291.1(BRD4):c.2158+2908A>Tnot provided [RCV002263155]benign191525124415251244Humanname
153349142CV1693751single nucleotide variantNM_001379291.1(BRD4):c.2159-1047A>Tnot provided [RCV002275534]benign|likely benign191524580915245809Humanname
153349143CV1693752single nucleotide variantNM_001379291.1(BRD4):c.2159-1816C>Tnot provided [RCV002275535]benign|likely benign191524657815246578Humanname
155641653CV1709888single nucleotide variantNM_001379291.1(BRD4):c.2158+2292C>Tnot provided [RCV002292988]benign191525186015251860Humanname
329352223CV2476741single nucleotide variantNM_001379291.1(BRD4):c.2158+3487C>Anot provided [RCV003222973]likely benign191525066515250665Humanname
401725888CV2735990single nucleotide variantNM_001379291.1(BRD4):c.2159-3665C>Tnot provided [RCV003312435]benign|likely benign191524842715248427Humanname
401928558CV2811725duplicationNM_001379291.1(BRD4):c.2159-1767dupnot provided [RCV003406879]likely benign191524652815246529Humanname
401928559CV2811726single nucleotide variantNM_001379291.1(BRD4):c.2159-2870T>Cnot provided [RCV003406880]likely benign191524763215247632Humanname
401928561CV2811727single nucleotide variantNM_001379291.1(BRD4):c.2159-3595C>Gnot provided [RCV003406881]benign191524835715248357Humanname
401907022CV2811728single nucleotide variantNM_001379291.1(BRD4):c.2159-3686C>Gnot provided [RCV003421885]likely benign191524844815248448Humanname
401907024CV2811729single nucleotide variantNM_001379291.1(BRD4):c.2159-4307A>Tnot provided [RCV003421886]benign191524906915249069Humanname
401908495CV2811730single nucleotide variantNM_001379291.1(BRD4):c.2159-4308C>Gnot provided [RCV003423399]benign191524907015249070Humanname
401908496CV2811731single nucleotide variantNM_001379291.1(BRD4):c.2159-4655G>Anot provided [RCV003423400]benign191524941715249417Humanname
401908497CV2811732single nucleotide variantNM_001379291.1(BRD4):c.2158+4241A>Gnot provided [RCV003423401]benign191524991115249911Humanname
401907025CV2811733single nucleotide variantNM_001379291.1(BRD4):c.2158+3019G>Cnot provided [RCV003421887]likely benign191525113315251133Humanname
401908498CV2811734single nucleotide variantNM_001379291.1(BRD4):c.2158+2782G>Cnot provided [RCV003423402]benign|likely benign191525137015251370Humanname
401908505CV2811740single nucleotide variantNM_001379291.1(BRD4):c.2158+2707C>Gnot provided [RCV003423407]benign|likely benign191525144515251445Humanname
401907027CV2811742single nucleotide variantNM_001379291.1(BRD4):c.2158+2690G>Cnot provided [RCV003421889]likely benign191525146215251462Humanname
401937100CV2811743single nucleotide variantNM_001379291.1(BRD4):c.2158+2425G>Anot provided [RCV003415120]benign|likely benign191525172715251727Humanname
401908507CV2811744single nucleotide variantNM_001379291.1(BRD4):c.2158+2377G>Anot provided [RCV003423408]benign191525177515251775Humanname
401928564CV2811745single nucleotide variantNM_001379291.1(BRD4):c.2158+2376C>Tnot provided [RCV003406882]likely benign191525177615251776Human1name
401928564CV2811745single nucleotide variantNM_001379291.1(BRD4):c.2158+2376C>Tnot provided [RCV003406882]likely benign191525177615251777Human1name
401928566CV2811746single nucleotide variantNM_001379291.1(BRD4):c.2158+2269G>Anot provided [RCV003406883]likely benign191525188315251883Humanname
401908508CV2811747single nucleotide variantNM_001379291.1(BRD4):c.2158+2054C>Tnot provided [RCV003423409]likely benign191525209815252098Humanname
401937101CV2811748single nucleotide variantNM_001379291.1(BRD4):c.2158+1912C>Tnot provided [RCV003415121]benign191525224015252240Humanname
405244676CV2968347microsatelliteNM_001379291.1(BRD4):c.2212-14CT[4]not provided [RCV003684916]likely benign191524460815244609Humanname
597898114CV3826585microsatelliteNM_001379291.1(BRD4):c.2212-14CT[2]not provided [RCV005180718]likely benign191524460915244610Humanname
155949207CV2026102microsatelliteNM_001379291.1(BRD4):c.2212-28GTCT[3]not provided [RCV002730586]likely benign191524461315244616Humanname
155993396CV2059817single nucleotide variantNM_001379291.1(BRD4):c.9G>A (p.Ala3=)not provided [RCV002819310]likely benign191527309115273091Humanname
597892691CV3809824microsatelliteNM_001379291.1(BRD4):c.2212-28GTCT[5]not provided [RCV005151545]likely benign191524461215244613Humanname
597899680CV3774531single nucleotide variantNM_001379291.1(BRD4):c.15C>T (p.Ser5=)not provided [RCV005112066]likely benign191527308515273085Humanname
150464993CV1215370microsatelliteNM_001379291.1(BRD4):c.424-76_424-73delnot provided [RCV001614069]benign191526762415267627Humanname
156166541CV1907766single nucleotide variantNM_001379291.1(BRD4):c.20C>G (p.Pro7Arg)not provided [RCV003083090]uncertain significance191527308015273080Humanname
155917947CV2030040single nucleotide variantNM_001379291.1(BRD4):c.255G>A (p.Gln85=)not provided [RCV002750562]likely benign191527284515272845Humanname
156188987CV2030176single nucleotide variantNM_001379291.1(BRD4):c.240A>G (p.Ala80=)not provided [RCV002765850]likely benign191527286015272860Humanname
155935667CV2075140single nucleotide variantNM_001379291.1(BRD4):c.210G>C (p.Val70=)not provided [RCV002839056]likely benign191527289015272890Humanname
156007033CV2099805single nucleotide variantNM_001379291.1(BRD4):c.117C>T (p.Asn39=)not provided [RCV002908906]likely benign191527298315272983Humanname
156014345CV2121285single nucleotide variantNM_001379291.1(BRD4):c.273G>A (p.Lys91=)not provided [RCV002948450]likely benign191527282715272827Humanname
405209640CV2871437single nucleotide variantNM_001379291.1(BRD4):c.17G>C (p.Gly6Ala)not provided [RCV003552408]uncertain significance191527308315273083Humanname
405119760CV2891561single nucleotide variantNM_001379291.1(BRD4):c.267C>T (p.Ala89=)not provided [RCV003558922]likely benign191527283315272833Humanname
405066089CV2923692single nucleotide variantNM_001379291.1(BRD4):c.285T>A (p.Pro95=)not provided [RCV003580822]uncertain significance191527281515272815Humanname
405058814CV2928991single nucleotide variantNM_001379291.1(BRD4):c.213C>T (p.Leu71=)not provided [RCV003580320]likely benign191527288715272887Humanname
405060551CV2929232single nucleotide variantNM_001379291.1(BRD4):c.213C>G (p.Leu71=)not provided [RCV003580439]likely benign191527288715272887Humanname
405221369CV2966132single nucleotide variantNM_001379291.1(BRD4):c.264T>C (p.Asp88=)not provided [RCV003680737]likely benign191527283615272836Humanname
405139456CV3045436single nucleotide variantNM_001379291.1(BRD4):c.26C>A (p.Thr9Lys)not provided [RCV003725521]uncertain significance191527307415273074Humanname
405034605CV3075268single nucleotide variantNM_001379291.1(BRD4):c.153C>T (p.Ser51=)not provided [RCV003739352]likely benign191527294715272947Humanname
402519038CV3175317single nucleotide variantNM_001379291.1(BRD4):c.249C>T (p.Phe83=)not provided [RCV003879600]likely benign191527285115272851Humanname
405286413CV3205335single nucleotide variantNM_001379291.1(BRD4):c.132C>T (p.Asn44=)BRD4-related disorder [RCV003959529]likely benign191527296815272968Humanname , trait , alternate_id
597862770CV3822713single nucleotide variantNM_001379291.1(BRD4):c.180C>G (p.Thr60=)not provided [RCV005175245]likely benign191527292015272920Humanname
597867044CV3838623single nucleotide variantNM_001379291.1(BRD4):c.219A>G (p.Thr73=)not provided [RCV005175919]likely benign191527288115272881Humanname
597943162CV3847429single nucleotide variantNM_001379291.1(BRD4):c.138G>A (p.Pro46=)not provided [RCV005188348]likely benign191527296215272962Humanname
150468902CV1218984duplicationNM_001379291.1(BRD4):c.2047+89_2047+90dupnot provided [RCV001614736]benign191525519915255200Humanname
152101672CV1667117single nucleotide variantNM_001379291.1(BRD4):c.645T>G (p.Pro215=)not provided [RCV002214103]likely benign191526555815265558Humanname
156203433CV1905726single nucleotide variantNM_001379291.1(BRD4):c.309G>A (p.Thr103=)not provided [RCV003084303]likely benign191526901915269019Humanname
156418467CV1911149single nucleotide variantNM_001379291.1(BRD4):c.95A>G (p.Gln32Arg)Inborn genetic diseases [RCV004603302]|not provided [RCV002611662]uncertain significance191527300515273005Human1name
155943192CV1920864single nucleotide variantNM_001379291.1(BRD4):c.825C>T (p.Ile275=)not provided [RCV002615773]likely benign191526537815265378Humanname
156444347CV1938204single nucleotide variantNM_001379291.1(BRD4):c.624C>G (p.Thr208=)not provided [RCV003115271]likely benign191526557915265579Humanname
156434518CV1940065single nucleotide variantNM_001379291.1(BRD4):c.663G>A (p.Thr221=)not provided [RCV003104480]likely benign191526554015265540Humanname
156445889CV1952140single nucleotide variantNM_001379291.1(BRD4):c.414C>T (p.Ile138=)not provided [RCV003116852]likely benign191526891415268914Humanname
156169481CV1968230single nucleotide variantNM_001379291.1(BRD4):c.606A>G (p.Ala202=)not provided [RCV002594726]likely benign191526559715265597Humanname
156187185CV2033924single nucleotide variantNM_001379291.1(BRD4):c.600T>A (p.Thr200=)not provided [RCV002765797]likely benign191526560315265603Humanname
155939863CV2041748single nucleotide variantNM_001379291.1(BRD4):c.976C>A (p.Arg326=)not provided [RCV002775118]likely benign191526464015264640Humanname
156325886CV2054122deletionNM_001379291.1(BRD4):c.2211+13_2211+14delnot provided [RCV002810391]likely benign191524469615244697Humanname
156316544CV2086241single nucleotide variantNM_001379291.1(BRD4):c.98C>T (p.Ala33Val)not provided [RCV002899027]uncertain significance191527300215273002Humanname
156235641CV2104988single nucleotide variantNM_001379291.1(BRD4):c.819C>T (p.Pro273=)not provided [RCV002919105]likely benign191526538415265384Humanname
155961987CV2131934single nucleotide variantNM_001379291.1(BRD4):c.312T>A (p.Pro104=)not provided [RCV002995201]likely benign191526901615269016Humanname
401928567CV2811752single nucleotide variantNM_001379291.1(BRD4):c.903C>T (p.Asp301=)not provided [RCV003406884]benign|likely benign191526471315264713Humanname
401908512CV2811753single nucleotide variantNM_001379291.1(BRD4):c.900T>C (p.Ile300=)not provided [RCV003423412]likely benign191526471615264716Humanname
401908514CV2811754single nucleotide variantNM_001379291.1(BRD4):c.780A>C (p.Pro260=)not provided [RCV003423413]likely benign191526542315265423Humanname
401908515CV2811755single nucleotide variantNM_001379291.1(BRD4):c.771A>C (p.Pro257=)not provided [RCV003423414]likely benign191526543215265432Humanname
401928570CV2811757single nucleotide variantNM_001379291.1(BRD4):c.756A>C (p.Pro252=)not provided [RCV003406885]likely benign191526544715265447Humanname
401937183CV2811758single nucleotide variantNM_001379291.1(BRD4):c.585G>A (p.Thr195=)not provided [RCV003415123]likely benign191526561815265618Humanname
401944220CV2840269single nucleotide variantNM_001379291.1(BRD4):c.738A>C (p.Pro246=)not provided [RCV003457019]likely benign191526546515265465Humanname
405176749CV2915787single nucleotide variantNM_001379291.1(BRD4):c.765C>G (p.Pro255=)not provided [RCV003563603]likely benign191526543815265438Humanname
402504309CV2947450single nucleotide variantNM_001379291.1(BRD4):c.654G>A (p.Val218=)not provided [RCV003661917]likely benign191526554915265549Humanname
405100549CV2947941single nucleotide variantNM_001379291.1(BRD4):c.507C>T (p.Thr169=)not provided [RCV003665996]likely benign191526746815267468Humanname
405144434CV2955211single nucleotide variantNM_001379291.1(BRD4):c.795C>G (p.Pro265=)not provided [RCV003673511]likely benign191526540815265408Humanname
402519890CV3002452single nucleotide variantNM_001379291.1(BRD4):c.759G>A (p.Val253=)not provided [RCV003690212]likely benign191526544415265444Humanname
402481025CV3041507single nucleotide variantNM_001379291.1(BRD4):c.450A>G (p.Ala150=)not provided [RCV003712823]likely benign191526752515267525Humanname
405200662CV3147234single nucleotide variantNM_001379291.1(BRD4):c.690G>A (p.Pro230=)not provided [RCV003844394]likely benign191526551315265513Humanname
405044907CV3150241single nucleotide variantNM_001379291.1(BRD4):c.993A>G (p.Pro331=)not provided [RCV003849035]likely benign191526462315264623Humanname
405156286CV3163479single nucleotide variantNM_001379291.1(BRD4):c.675C>T (p.Phe225=)not provided [RCV003856725]likely benign191526552815265528Humanname
402487209CV3181890single nucleotide variantNM_001379291.1(BRD4):c.783C>T (p.Pro261=)not provided [RCV003876559]likely benign191526542015265420Humanname
405260966CV3215560single nucleotide variantNM_001379291.1(BRD4):c.28A>G (p.Arg10Gly)BRD4-related disorder [RCV003944290]uncertain significance191527307215273072Humanname , trait , alternate_id
405765144CV3302125single nucleotide variantNM_001379291.1(BRD4):c.94C>G (p.Gln32Glu)Inborn genetic diseases [RCV004434308]uncertain significance191527300615273006Human1name
407428622CV3410301single nucleotide variantNM_001379291.1(BRD4):c.468C>T (p.Leu156=)not specified [RCV004587908]likely benign191526750715267507Humanname
408381988CV3502073duplicationNM_001379291.1(BRD4):c.137dup (p.Pro47fs)not provided [RCV004729601]pathogenic191527296215272963Humanname
597943949CV3754918single nucleotide variantNM_001379291.1(BRD4):c.939C>G (p.Pro313=)not provided [RCV005078107]likely benign191526467715264677Humanname
597837961CV3758124single nucleotide variantNM_001379291.1(BRD4):c.753G>A (p.Pro251=)not provided [RCV005085958]likely benign191526545015265450Humanname
597896293CV3786068deletionNM_001379291.1(BRD4):c.4021-16_4021-14delnot provided [RCV005126442]likely benign191523845915238461Humanname
597934862CV3807146single nucleotide variantNM_001379291.1(BRD4):c.600T>G (p.Thr200=)not provided [RCV005157717]likely benign191526560315265603Humanname
597961062CV3812033single nucleotide variantNM_001379291.1(BRD4):c.435C>T (p.Asp145=)not provided [RCV005163686]likely benign191526754015267540Humanname
597909356CV3830011single nucleotide variantNM_001379291.1(BRD4):c.681C>T (p.Ala227=)not provided [RCV005182580]likely benign191526552215265522Humanname
597888619CV3839459single nucleotide variantNM_001379291.1(BRD4):c.444A>G (p.Leu148=)not provided [RCV005179351]likely benign191526753115267531Humanname
597950774CV3847046single nucleotide variantNM_001379291.1(BRD4):c.912C>T (p.His304=)not provided [RCV005190218]likely benign191526470415264704Humanname
597965730CV3848413single nucleotide variantNM_001379291.1(BRD4):c.888C>A (p.Thr296=)not provided [RCV005194293]likely benign191526472815264728Humanname
15176516CV704814single nucleotide variantNM_001379291.1(BRD4):c.801C>T (p.Pro267=)BRD4-related disorder [RCV003933305]|not provided [RCV000950842]|not specified [RCV003151231]benign191526540215265402Human1name , trait , alternate_id
15152629CV716236single nucleotide variantNM_001379291.1(BRD4):c.966G>A (p.Arg322=)not provided [RCV000968389]benign|likely benign191526465015264650Humanname
150507937CV1213899deletionNM_001379291.1(BRD4):c.967del (p.Glu323fs)not provided [RCV001596420]uncertain significance191526464915264649Humanname
150464941CV1277157single nucleotide variantNM_001379291.1(BRD4):c.1950C>T (p.Asp650=)not provided [RCV001710451]benign191525539415255394Humanname
150508854CV1284387single nucleotide variantNM_001379291.1(BRD4):c.2865A>C (p.Pro955=)not provided [RCV001720495]benign191524320415243204Humanname
150528273CV1301797single nucleotide variantNM_001379291.1(BRD4):c.263A>T (p.Asp88Val)not provided [RCV001755169]uncertain significance191527283715272837Humanname
152070867CV1638681single nucleotide variantNM_001379291.1(BRD4):c.2913G>A (p.Gln971=)BRD4-related disorder [RCV003950987]|not provided [RCV002075083]likely benign191524315615243156Human1name , trait , alternate_id
156319207CV1876283single nucleotide variantNM_001379291.1(BRD4):c.1566C>T (p.His522=)not provided [RCV003062949]benign191525624915256249Humanname
155984233CV1883850single nucleotide variantNM_001379291.1(BRD4):c.2730A>G (p.Gln910=)not provided [RCV003075810]likely benign|uncertain significance191524333915243339Humanname
156317779CV1903926single nucleotide variantNM_001379291.1(BRD4):c.1593C>G (p.Pro531=)not provided [RCV003088821]likely benign191525622215256222Humanname
156015743CV1912780single nucleotide variantNM_001379291.1(BRD4):c.2829G>A (p.Pro943=)not provided [RCV002619134]likely benign191524324015243240Humanname
156046269CV1914836single nucleotide variantNM_001379291.1(BRD4):c.2988C>T (p.Pro996=)not provided [RCV002620446]likely benign191524308115243081Humanname
156407285CV1918059single nucleotide variantNM_001379291.1(BRD4):c.2397C>G (p.Pro799=)not provided [RCV002606849]likely benign191524441515244415Humanname
156449030CV1944284single nucleotide variantNM_001379291.1(BRD4):c.2358G>A (p.Pro786=)not provided [RCV003121140]benign191524445415244454Humanname
156114267CV1998705single nucleotide variantNM_001379291.1(BRD4):c.1053G>A (p.Ser351=)not provided [RCV002640063]likely benign191526456315264563Humanname
156058103CV2024037single nucleotide variantNM_001379291.1(BRD4):c.2736G>C (p.Leu912=)not provided [RCV002736739]likely benign191524333315243333Humanname
156141113CV2032940single nucleotide variantNM_001379291.1(BRD4):c.2472C>G (p.Thr824=)not provided [RCV002740902]likely benign191524434015244340Humanname
155965558CV2034216single nucleotide variantNM_001379291.1(BRD4):c.1374G>A (p.Pro458=)BRD4-related disorder [RCV003898518]|not provided [RCV002731376]likely benign191525714115257141Human1name , trait , alternate_id
156114418CV2084757single nucleotide variantNM_001379291.1(BRD4):c.1866C>T (p.Ile622=)not provided [RCV002889318]likely benign191525547815255478Humanname
156231190CV2085282single nucleotide variantNM_001379291.1(BRD4):c.2301T>A (p.Pro767=)not provided [RCV002876243]likely benign191524451115244511Humanname
156028638CV2088581single nucleotide variantNM_001379291.1(BRD4):c.2724C>T (p.Pro908=)not provided [RCV002866952]likely benign191524334515243345Humanname
155960276CV2088951single nucleotide variantNM_001379291.1(BRD4):c.2908C>T (p.Leu970=)not provided [RCV002880983]likely benign191524316115243161Humanname
156163404CV2091530single nucleotide variantNM_001379291.1(BRD4):c.2856C>T (p.Ser952=)BRD4-related disorder [RCV003961161]|not provided [RCV002891087]likely benign191524321315243213Human1name , trait , alternate_id
156083393CV2094933single nucleotide variantNM_001379291.1(BRD4):c.2328G>A (p.Pro776=)not provided [RCV002912777]likely benign191524448415244484Humanname
155932575CV2096164single nucleotide variantNM_001379291.1(BRD4):c.2142C>T (p.Ser714=)not provided [RCV002903912]benign191525416815254168Humanname
156343034CV2099702single nucleotide variantNM_001379291.1(BRD4):c.2841C>T (p.Ser947=)not provided [RCV002900587]likely benign191524322815243228Humanname
156008158CV2099869single nucleotide variantNM_001379291.1(BRD4):c.1140G>A (p.Val380=)not provided [RCV002908956]benign|likely benign191526447615264476Humanname
156092114CV2102720single nucleotide variantNM_001379291.1(BRD4):c.1110C>T (p.Ala370=)not provided [RCV002913077]benign191526450615264506Humanname
156342096CV2103378single nucleotide variantNM_001379291.1(BRD4):c.1071C>T (p.Cys357=)not provided [RCV002900533]likely benign191526454515264545Humanname
155939900CV2110631single nucleotide variantNM_001379291.1(BRD4):c.2070C>T (p.Ala690=)not provided [RCV002904397]likely benign191525424015254240Humanname
156131510CV2112887single nucleotide variantNM_001379291.1(BRD4):c.1881C>T (p.Gly627=)BRD4-related disorder [RCV003926545]|not provided [RCV002914570]benign|likely benign191525546315255463Human1name , trait , alternate_id
156198417CV2113803single nucleotide variantNM_001379291.1(BRD4):c.1719G>A (p.Thr573=)not provided [RCV002957291]benign|likely benign191525609615256096Humanname
156020346CV2118554single nucleotide variantNM_001379291.1(BRD4):c.2880C>G (p.Pro960=)not provided [RCV002948742]likely benign191524318915243189Humanname
156154853CV2121838single nucleotide variantNM_001379291.1(BRD4):c.2877G>A (p.Pro959=)not provided [RCV002929028]likely benign191524319215243192Humanname
155997563CV2122672single nucleotide variantNM_001379291.1(BRD4):c.2397C>T (p.Pro799=)BRD4-related disorder [RCV003906394]|not provided [RCV002975025]likely benign191524441515244415Human1name , trait , alternate_id
155949069CV2123358single nucleotide variantNM_001379291.1(BRD4):c.2922G>A (p.Pro974=)BRD4-related disorder [RCV003936465]|not provided [RCV002971755]benign|likely benign191524314715243147Human1name , trait , alternate_id
156131513CV2125163single nucleotide variantNM_001379291.1(BRD4):c.1458C>T (p.Ser486=)BRD4-related disorder [RCV003906380]|not provided [RCV002953896]likely benign191525705715257057Human1name , trait , alternate_id
156218829CV2128129single nucleotide variantNM_001379291.1(BRD4):c.2430C>A (p.Pro810=)not provided [RCV002958057]likely benign191524438215244382Humanname
156121473CV2128547single nucleotide variantNM_001379291.1(BRD4):c.1644A>G (p.Lys548=)BRD4-related disorder [RCV003961275]|not provided [RCV002953514]likely benign191525617115256171Human1name , trait , alternate_id
156039843CV2130409single nucleotide variantNM_001379291.1(BRD4):c.2250G>A (p.Pro750=)not provided [RCV002949574]likely benign191524456215244562Humanname
155911133CV2141638single nucleotide variantNM_001379291.1(BRD4):c.1170C>T (p.Tyr390=)not provided [RCV002968059]benign191526444615264446Humanname
155994838CV2171505single nucleotide variantNM_001379291.1(BRD4):c.2766C>T (p.Pro922=)not provided [RCV003034497]likely benign191524330315243303Humanname
156379809CV2178963single nucleotide variantNM_001379291.1(BRD4):c.2040A>G (p.Lys680=)not provided [RCV003050400]likely benign191525530415255304Humanname
329352220CV2476740single nucleotide variantNM_001379291.1(BRD4):c.2277G>C (p.Pro759=)not provided [RCV003222972]likely benign191524453515244535Humanname
401878120CV2786885single nucleotide variantNM_001379291.1(BRD4):c.109C>T (p.Pro37Ser)Inborn genetic diseases [RCV003383989]uncertain significance191527299115272991Human1name
401907017CV2811717single nucleotide variantNM_001379291.1(BRD4):c.2946C>T (p.Pro982=)not provided [RCV003421881]likely benign191524312315243123Humanname
401928552CV2811718single nucleotide variantNM_001379291.1(BRD4):c.2445C>T (p.Ser815=)not provided [RCV003406876]likely benign191524436715244367Humanname
401928554CV2811719single nucleotide variantNM_001379291.1(BRD4):c.2337G>C (p.Pro779=)not provided [RCV003406877]likely benign191524447515244475Humanname
401907019CV2811720single nucleotide variantNM_001379291.1(BRD4):c.2328G>C (p.Pro776=)not provided [RCV003421882]likely benign191524448415244484Humanname
401907020CV2811721single nucleotide variantNM_001379291.1(BRD4):c.2307T>C (p.Pro769=)not provided [RCV003421883]likely benign191524450515244505Humanname
401928556CV2811722single nucleotide variantNM_001379291.1(BRD4):c.2280T>C (p.Pro760=)not provided [RCV003406878]likely benign191524453215244532Humanname
401944304CV2840268single nucleotide variantNM_001379291.1(BRD4):c.2295A>C (p.Pro765=)not provided [RCV003457018]likely benign191524451715244517Humanname
405203475CV2858328single nucleotide variantNM_001379291.1(BRD4):c.1482G>A (p.Ser494=)not provided [RCV003551645]likely benign191525703315257033Humanname
405203522CV2858357single nucleotide variantNM_001379291.1(BRD4):c.2805G>A (p.Leu935=)not provided [RCV003551651]likely benign191524326415243264Humanname
405045240CV2859897single nucleotide variantNM_001379291.1(BRD4):c.118G>T (p.Ala40Ser)not provided [RCV003579403]uncertain significance191527298215272982Humanname
405067044CV2875484single nucleotide variantNM_001379291.1(BRD4):c.1560C>T (p.Ala520=)not provided [RCV003548301]likely benign191525625515256255Humanname
402491083CV2877627single nucleotide variantNM_001379291.1(BRD4):c.2310G>T (p.Pro770=)not provided [RCV003544949]likely benign191524450215244502Humanname
405152861CV2888561single nucleotide variantNM_001379291.1(BRD4):c.2937A>G (p.Pro979=)not provided [RCV003561773]benign191524313215243132Humanname
405238347CV2891376single nucleotide variantNM_001379291.1(BRD4):c.2562C>T (p.His854=)not provided [RCV003556847]likely benign191524425015244250Humanname
405149272CV2891956single nucleotide variantNM_001379291.1(BRD4):c.1953G>A (p.Glu651=)not provided [RCV003561608]likely benign191525539115255391Humanname
405207973CV2909120single nucleotide variantNM_001379291.1(BRD4):c.1005G>T (p.Val335=)not provided [RCV003566728]likely benign191526461115264611Humanname
402476234CV2916852single nucleotide variantNM_001379291.1(BRD4):c.2121T>C (p.Ser707=)not provided [RCV003571425]likely benign191525418915254189Humanname
402517185CV2936482single nucleotide variantNM_001379291.1(BRD4):c.2482C>T (p.Leu828=)not provided [RCV003663040]likely benign191524433015244330Humanname
405091044CV2937411single nucleotide variantNM_001379291.1(BRD4):c.203G>C (p.Arg68Thr)not provided [RCV003665285]uncertain significance191527289715272897Humanname
402509341CV2938523single nucleotide variantNM_001379291.1(BRD4):c.2382G>A (p.Lys794=)not provided [RCV003662412]likely benign191524443015244430Humanname
405075634CV2940625single nucleotide variantNM_001379291.1(BRD4):c.2277G>A (p.Pro759=)not provided [RCV003659603]likely benign191524453515244535Humanname
402514886CV2942999single nucleotide variantNM_001379291.1(BRD4):c.1086G>A (p.Lys362=)not provided [RCV003662762]likely benign191526453015264530Humanname
402492276CV2945822single nucleotide variantNM_001379291.1(BRD4):c.1428C>A (p.Pro476=)not provided [RCV003660664]likely benign191525708715257087Humanname
405100663CV2948131single nucleotide variantNM_001379291.1(BRD4):c.2259G>A (p.Val753=)not provided [RCV003666112]likely benign191524455315244553Humanname
402490634CV2949022single nucleotide variantNM_001379291.1(BRD4):c.118G>A (p.Ala40Thr)not provided [RCV003660511]uncertain significance191527298215272982Humanname
405143046CV2958897single nucleotide variantNM_001379291.1(BRD4):c.2253T>G (p.Ala751=)not provided [RCV003673405]likely benign191524455915244559Humanname
405227084CV2963457single nucleotide variantNM_001379291.1(BRD4):c.1233G>A (p.Glu411=)not provided [RCV003681608]likely benign191526352815263528Humanname
405191017CV2964820single nucleotide variantNM_001379291.1(BRD4):c.1185G>A (p.Lys395=)not provided [RCV003677199]likely benign191526443115264431Humanname
405222147CV2966355single nucleotide variantNM_001379291.1(BRD4):c.1524C>G (p.Ala508=)not provided [RCV003680833]likely benign191525699115256991Humanname
405246745CV2966437single nucleotide variantNM_001379291.1(BRD4):c.2418C>G (p.Pro806=)not provided [RCV003685499]likely benign191524439415244394Humanname
405242309CV2967243single nucleotide variantNM_001379291.1(BRD4):c.1206A>G (p.Thr402=)not provided [RCV003684320]likely benign191526441015264410Humanname
405248545CV2984846single nucleotide variantNM_001379291.1(BRD4):c.1827T>G (p.Pro609=)not provided [RCV003721081]likely benign191525551715255517Humanname
402520836CV3000393single nucleotide variantNM_001379291.1(BRD4):c.1161A>G (p.Leu387=)not provided [RCV003716417]likely benign191526445515264455Humanname
405063882CV3020698single nucleotide variantNM_001379291.1(BRD4):c.2844G>A (p.Val948=)not provided [RCV003697887]likely benign191524322515243225Humanname
405144121CV3027269single nucleotide variantNM_001379291.1(BRD4):c.2925A>G (p.Pro975=)not provided [RCV003702771]likely benign191524314415243144Humanname
405144587CV3027346single nucleotide variantNM_001379291.1(BRD4):c.1074C>T (p.Ser358=)not provided [RCV003702808]likely benign191526454215264542Humanname
405086397CV3028311single nucleotide variantNM_001379291.1(BRD4):c.1278C>T (p.Phe426=)not provided [RCV003699338]likely benign191526348315263483Humanname
405153190CV3031582single nucleotide variantNM_001379291.1(BRD4):c.119C>T (p.Ala40Val)not provided [RCV003703433]uncertain significance191527298115272981Humanname
405203771CV3033366single nucleotide variantNM_001379291.1(BRD4):c.2631C>T (p.Ala877=)not provided [RCV003707737]likely benign191524343815243438Humanname
405223111CV3035677single nucleotide variantNM_001379291.1(BRD4):c.1650G>A (p.Lys550=)not provided [RCV003710263]likely benign191525616515256165Humanname
405156190CV3037376single nucleotide variantNM_001379291.1(BRD4):c.2310G>A (p.Pro770=)not provided [RCV003703635]benign191524450215244502Humanname
405195302CV3037547single nucleotide variantNM_001379291.1(BRD4):c.127A>G (p.Thr43Ala)not provided [RCV003706849]uncertain significance191527297315272973Humanname
405195666CV3037597single nucleotide variantNM_001379291.1(BRD4):c.2400C>T (p.Phe800=)not provided [RCV003706886]likely benign|uncertain significance191524441215244412Humanname
402505101CV3038942single nucleotide variantNM_001379291.1(BRD4):c.1044C>T (p.Ser348=)not provided [RCV003715120]likely benign191526457215264572Humanname
405083036CV3046791single nucleotide variantNM_001379291.1(BRD4):c.1116C>T (p.Tyr372=)not provided [RCV003717203]likely benign191526450015264500Humanname
405222286CV3056807single nucleotide variantNM_001379291.1(BRD4):c.2193C>T (p.Pro731=)not provided [RCV003733413]likely benign191524472815244728Humanname
405158196CV3061533single nucleotide variantNM_001379291.1(BRD4):c.2526G>A (p.Pro842=)not provided [RCV003726909]benign191524428615244286Humanname
405213167CV3063223single nucleotide variantNM_001379291.1(BRD4):c.1528C>A (p.Arg510=)not provided [RCV003732199]likely benign191525698715256987Humanname
405029208CV3073619single nucleotide variantNM_001379291.1(BRD4):c.1791C>G (p.Pro597=)not provided [RCV003739014]likely benign191525555315255553Humanname
405175682CV3119239single nucleotide variantNM_001379291.1(BRD4):c.2673A>G (p.Ser891=)not provided [RCV003819524]likely benign191524339615243396Humanname
402522191CV3126982single nucleotide variantNM_001379291.1(BRD4):c.2493G>A (p.Pro831=)not provided [RCV003824900]likely benign191524431915244319Humanname
405226909CV3169502single nucleotide variantNM_001379291.1(BRD4):c.2874G>A (p.Leu958=)not provided [RCV003864526]likely benign191524319515243195Humanname
402506809CV3181700single nucleotide variantNM_001379291.1(BRD4):c.1629G>A (p.Lys543=)not provided [RCV003878534]likely benign191525618615256186Humanname
405259887CV3186463single nucleotide variantNM_001379291.1(BRD4):c.2337G>A (p.Pro779=)not provided [RCV003884222]likely benign191524447515244475Humanname
405267648CV3186880single nucleotide variantNM_001379291.1(BRD4):c.2763A>C (p.Pro921=)not provided [RCV003886963]likely benign191524330615243306Humanname
405277787CV3196108single nucleotide variantNM_001379291.1(BRD4):c.2367A>T (p.Ala789=)BRD4-related disorder [RCV003904625]likely benign191524444515244445Humanname , trait , alternate_id
405286692CV3205369single nucleotide variantNM_001379291.1(BRD4):c.2385C>A (p.Ser795=)BRD4-related disorder [RCV003959555]likely benign191524442715244427Humanname , trait , alternate_id
405284039CV3213547single nucleotide variantNM_001379291.1(BRD4):c.1219C>T (p.Leu407=)BRD4-related disorder [RCV003922122]likely benign191526354215263542Humanname , trait , alternate_id
405290148CV3214108single nucleotide variantNM_001379291.1(BRD4):c.2271G>A (p.Pro757=)BRD4-related disorder [RCV003926945]|not provided [RCV005101762]likely benign191524454115244541Human1name , trait , alternate_id
596923078CV3530246single nucleotide variantNM_001379291.1(BRD4):c.220C>G (p.Leu74Val)not provided [RCV004776845]uncertain significance191527288015272880Humanname
596923112CV3537561single nucleotide variantNM_001379291.1(BRD4):c.251A>G (p.Gln84Arg)not provided [RCV004787531]uncertain significance191527284915272849Humanname
596948106CV3547701single nucleotide variantNM_001379291.1(BRD4):c.2664A>C (p.Pro888=)not provided [RCV004812006]likely benign191524340515243405Humanname
597961593CV3753281single nucleotide variantNM_001379291.1(BRD4):c.2685C>G (p.Thr895=)not provided [RCV005081781]likely benign191524338415243384Humanname
597944303CV3754986single nucleotide variantNM_001379291.1(BRD4):c.1197C>T (p.Asp399=)not provided [RCV005078175]likely benign191526441915264419Humanname
597838903CV3758160single nucleotide variantNM_001379291.1(BRD4):c.1962C>T (p.Ile654=)not provided [RCV005085994]likely benign191525538215255382Humanname
597877013CV3766725single nucleotide variantNM_001379291.1(BRD4):c.1800G>A (p.Glu600=)not provided [RCV005108665]likely benign191525554415255544Humanname
597975864CV3795972single nucleotide variantNM_001379291.1(BRD4):c.293A>G (p.Tyr98Cys)not provided [RCV005144803]uncertain significance191526903515269035Humanname
597971316CV3802522single nucleotide variantNM_001379291.1(BRD4):c.2596C>T (p.Leu866=)not provided [RCV005142120]likely benign191524347315243473Humanname
597869417CV3803481single nucleotide variantNM_001379291.1(BRD4):c.1878C>T (p.Pro626=)not provided [RCV005148078]likely benign191525546615255466Humanname
597908973CV3806413single nucleotide variantNM_001379291.1(BRD4):c.136C>T (p.Pro46Ser)not provided [RCV005153980]uncertain significance191527296415272964Humanname
597921295CV3808028single nucleotide variantNM_001379291.1(BRD4):c.2169G>A (p.Pro723=)not provided [RCV005155736]likely benign191524475215244752Humanname
597924588CV3808663single nucleotide variantNM_001379291.1(BRD4):c.1338C>G (p.Leu446=)not provided [RCV005156177]likely benign191526342315263423Humanname
597877526CV3813327single nucleotide variantNM_001379291.1(BRD4):c.2727C>A (p.Pro909=)not provided [RCV005149263]likely benign191524334215243342Humanname
597959114CV3815035single nucleotide variantNM_001379291.1(BRD4):c.2508C>G (p.Pro836=)not provided [RCV005163161]likely benign191524430415244304Humanname
597859770CV3817191single nucleotide variantNM_001379291.1(BRD4):c.2205G>A (p.Gln735=)not provided [RCV005146572]likely benign191524471615244716Humanname
597956956CV3818103single nucleotide variantNM_001379291.1(BRD4):c.2595A>G (p.Ala865=)not provided [RCV005162554]likely benign191524347415243474Humanname
597948919CV3818438single nucleotide variantNM_001379291.1(BRD4):c.2940C>G (p.Pro980=)not provided [RCV005160699]likely benign191524312915243129Humanname
597966875CV3823907single nucleotide variantNM_001379291.1(BRD4):c.1137T>A (p.Pro379=)not provided [RCV005165327]likely benign191526447915264479Humanname
597880220CV3826359single nucleotide variantNM_001379291.1(BRD4):c.2808G>A (p.Gln936=)not provided [RCV005178056]uncertain significance191524326115243261Humanname
597875410CV3829686single nucleotide variantNM_001379291.1(BRD4):c.1533G>T (p.Leu511=)not provided [RCV005177394]likely benign191525698215256982Humanname
597875517CV3829700single nucleotide variantNM_001379291.1(BRD4):c.1485C>T (p.Asp495=)not provided [RCV005177408]likely benign191525703015257030Humanname
597892764CV3833333single nucleotide variantNM_001379291.1(BRD4):c.2592C>T (p.Asn864=)not provided [RCV005180025]likely benign191524347715243477Humanname
597894952CV3833613single nucleotide variantNM_001379291.1(BRD4):c.1377C>T (p.Asp459=)not provided [RCV005180305]likely benign191525713815257138Humanname
597884476CV3834950single nucleotide variantNM_001379291.1(BRD4):c.2872C>T (p.Leu958=)not provided [RCV005178674]likely benign191524319715243197Humanname
597941334CV3837060single nucleotide variantNM_001379291.1(BRD4):c.2727C>G (p.Pro909=)not provided [RCV005187891]likely benign191524334215243342Humanname
597925046CV3840496single nucleotide variantNM_001379291.1(BRD4):c.1671G>A (p.Val557=)not provided [RCV005184967]likely benign191525614415256144Humanname
597935747CV3845293single nucleotide variantNM_001379291.1(BRD4):c.2097G>A (p.Ser699=)not provided [RCV005186606]likely benign191525421315254213Humanname
597965745CV3848420single nucleotide variantNM_001379291.1(BRD4):c.1002C>T (p.Asp334=)not provided [RCV005194300]benign191526461415264614Humanname
597938422CV3852803single nucleotide variantNM_001379291.1(BRD4):c.2373G>A (p.Pro791=)not provided [RCV005187203]likely benign191524443915244439Humanname
597889908CV3856153single nucleotide variantNM_001379291.1(BRD4):c.2427G>A (p.Glu809=)not provided [RCV005200398]likely benign191524438515244385Humanname
597891097CV3856525single nucleotide variantNM_001379291.1(BRD4):c.1008C>T (p.Pro336=)not provided [RCV005200590]benign191526460815264608Humanname
597888089CV3859442single nucleotide variantNM_001379291.1(BRD4):c.2481C>T (p.Ile827=)not provided [RCV005200098]likely benign191524433115244331Humanname
597877920CV3860330single nucleotide variantNM_001379291.1(BRD4):c.2655C>G (p.Ala885=)not provided [RCV005198539]likely benign191524341415243414Humanname
598128648CV3887853single nucleotide variantNM_001379291.1(BRD4):c.2319A>G (p.Gln773=)not provided [RCV005244027]likely benign191524449315244493Humanname
616938995CV4015323single nucleotide variantNM_001379291.1(BRD4):c.182A>G (p.Asn61Ser)not provided [RCV005412833]uncertain significance191527291815272918Humanname
13520399CV495861duplicationNM_001379291.1(BRD4):c.766dup (p.Gln256fs)not provided [RCV000598606]pathogenic|uncertain significance191526543615265437Humanname
15165398CV727974single nucleotide variantNM_001379291.1(BRD4):c.2241G>A (p.Gln747=)BRD4-related disorder [RCV003910406]|not provided [RCV000882402]benign191524457115244571Human1name , trait , alternate_id
15114129CV756790single nucleotide variantNM_001379291.1(BRD4):c.1983G>A (p.Pro661=)not provided [RCV000917219]likely benign191525536115255361Humanname
15194760CV756791single nucleotide variantNM_001379291.1(BRD4):c.1590G>A (p.Gln530=)BRD4-related disorder [RCV003923157]|not provided [RCV000911215]benign|likely benign191525622515256225Human1name , trait , alternate_id
15104179CV786099single nucleotide variantNM_001379291.1(BRD4):c.2811G>A (p.Lys937=)BRD4-related disorder [RCV003943255]|not provided [RCV000976168]likely benign191524325815243258Human1name , trait , alternate_id
150536090CV1312268single nucleotide variantNM_001379291.1(BRD4):c.434A>G (p.Asp145Gly)Neurodevelopmental disorder [RCV001780030]uncertain significance191526754115267541Human1name
151662547CV1333188single nucleotide variantNM_001379291.1(BRD4):c.629C>G (p.Thr210Ser)Cornelia de Lange-like syndrome [RCV001837421]uncertain significance191526557415265574Humanname
152121949CV1570341single nucleotide variantNM_001379291.1(BRD4):c.755C>G (p.Pro252Arg)not provided [RCV002216900]benign|likely benign191526544815265448Humanname
152122632CV1632009single nucleotide variantNM_001379291.1(BRD4):c.3321C>T (p.Leu1107=)not provided [RCV002118041]benign191523978315239783Humanname
155641655CV1709889microsatelliteNM_001379291.1(BRD4):c.2158+825_2158+827delnot provided [RCV002292989]benign|likely benign191525332515253327Humanname
155734881CV1774429single nucleotide variantNM_001379291.1(BRD4):c.544G>T (p.Gly182Trp)not provided [RCV002301885]uncertain significance191526743115267431Humanname
155697207CV1777233single nucleotide variantNM_001379291.1(BRD4):c.835C>T (p.Pro279Ser)not provided [RCV002295384]uncertain significance191526536815265368Humanname
155795573CV1861381single nucleotide variantNM_001379291.1(BRD4):c.706A>G (p.Thr236Ala)not provided [RCV002469663]uncertain significance191526549715265497Humanname
155795619CV1861407single nucleotide variantNM_001379291.1(BRD4):c.800C>G (p.Pro267Arg)not provided [RCV002469689]uncertain significance191526540315265403Humanname
156408536CV1870124single nucleotide variantNM_001379291.1(BRD4):c.3168C>T (p.Thr1056=)not provided [RCV003071308]uncertain significance191524290115242901Humanname
156359685CV1874036single nucleotide variantNM_001379291.1(BRD4):c.3741C>T (p.His1247=)not provided [RCV003065522]likely benign191523910015239100Humanname
156027303CV1893312single nucleotide variantNM_001379291.1(BRD4):c.3222A>C (p.Ser1074=)not provided [RCV003077932]likely benign191523997015239970Humanname
155960453CV1900372single nucleotide variantNM_001379291.1(BRD4):c.3162C>T (p.Tyr1054=)not provided [RCV003095817]likely benign191524290715242907Humanname
156103359CV1907268single nucleotide variantNM_001379291.1(BRD4):c.3426C>T (p.Ala1142=)not provided [RCV003080689]benign191523967815239678Humanname
156163674CV1907599single nucleotide variantNM_001379291.1(BRD4):c.308C>T (p.Thr103Met)not provided [RCV003082996]uncertain significance191526902015269020Humanname
156210164CV1909698single nucleotide variantNM_001379291.1(BRD4):c.3180C>G (p.Arg1060=)not provided [RCV002596032]likely benign191524001215240012Humanname
156016860CV1912887single nucleotide variantNM_001379291.1(BRD4):c.3066G>A (p.Pro1022=)not provided [RCV002619189]likely benign191524300315243003Humanname
156407282CV1918058single nucleotide variantNM_001379291.1(BRD4):c.3588C>A (p.Ile1196=)not provided [RCV002606848]likely benign191523925315239253Humanname
156395248CV1927848single nucleotide variantNM_001379291.1(BRD4):c.932C>T (p.Pro311Leu)Inborn genetic diseases [RCV004072063]|not provided [RCV002654847]likely benign|uncertain significance191526468415264684Human1name
156435766CV1937127single nucleotide variantNM_001379291.1(BRD4):c.3687C>T (p.Arg1229=)not provided [RCV003104997]likely benign191523915415239154Humanname
156435555CV1940809single nucleotide variantNM_001379291.1(BRD4):c.3450G>A (p.Pro1150=)not provided [RCV003104913]likely benign191523951815239518Humanname
156242724CV1981519single nucleotide variantNM_001379291.1(BRD4):c.3189C>T (p.Pro1063=)not provided [RCV002645630]likely benign191524000315240003Humanname
156266200CV2011170single nucleotide variantNM_001379291.1(BRD4):c.3630G>A (p.Pro1210=)not provided [RCV002714824]likely benign191523921115239211Humanname
155918933CV2027235single nucleotide variantNM_001379291.1(BRD4):c.3024C>T (p.Ile1008=)not provided [RCV002750612]likely benign191524304515243045Humanname
155911685CV2029386single nucleotide variantNM_001379291.1(BRD4):c.3393G>A (p.Pro1131=)not provided [RCV002750190]likely benign191523971115239711Humanname
156015625CV2035057single nucleotide variantNM_001379291.1(BRD4):c.3921C>T (p.Ala1307=)not provided [RCV002780387]likely benign191523884215238842Humanname
155935201CV2035373single nucleotide variantNM_001379291.1(BRD4):c.799C>A (p.Pro267Thr)not provided [RCV002751403]uncertain significance191526540415265404Humanname
156271718CV2035837single nucleotide variantNM_001379291.1(BRD4):c.3966C>T (p.Asp1322=)not provided [RCV002770067]likely benign191523879715238797Humanname
156172230CV2041704single nucleotide variantNM_001379291.1(BRD4):c.827C>T (p.Ala276Val)not provided [RCV002741894]uncertain significance191526537615265376Humanname
156127561CV2104245single nucleotide variantNM_001379291.1(BRD4):c.3477G>A (p.Arg1159=)not provided [RCV002914420]likely benign191523949115239491Humanname
156340382CV2106970single nucleotide variantNM_001379291.1(BRD4):c.3105G>A (p.Lys1035=)not provided [RCV002938865]benign191524296415242964Humanname
156024783CV2112332single nucleotide variantNM_001379291.1(BRD4):c.925C>A (p.Leu309Met)not provided [RCV002909784]uncertain significance191526469115264691Humanname
156330885CV2112642single nucleotide variantNM_001379291.1(BRD4):c.3567G>A (p.Ala1189=)BRD4-related disorder [RCV003943593]|not provided [RCV002938360]benign|likely benign191523940115239401Human1name , trait , alternate_id
156032047CV2116148single nucleotide variantNM_001379291.1(BRD4):c.3603C>T (p.Ser1201=)not provided [RCV002910109]likely benign191523923815239238Humanname
156352832CV2118780single nucleotide variantNM_001379291.1(BRD4):c.3795C>T (p.Asp1265=)not provided [RCV002966426]likely benign191523896815238968Humanname
156001362CV2122888single nucleotide variantNM_001379291.1(BRD4):c.3735C>T (p.Ala1245=)not provided [RCV002975195]likely benign191523910615239106Humanname
156007397CV2126654single nucleotide variantNM_001379291.1(BRD4):c.3057C>G (p.Pro1019=)not provided [RCV002975466]likely benign191524301215243012Humanname
156025863CV2128946single nucleotide variantNM_001379291.1(BRD4):c.3336G>A (p.Glu1112=)BRD4-related disorder [RCV003963486]|not provided [RCV002949000]benign|likely benign191523976815239768Human1name , trait , alternate_id
155934404CV2129403single nucleotide variantNM_001379291.1(BRD4):c.3153G>A (p.Ser1051=)not provided [RCV002970830]likely benign191524291615242916Humanname
156252517CV2130295single nucleotide variantNM_001379291.1(BRD4):c.662C>T (p.Thr221Met)not provided [RCV002959260]uncertain significance191526554115265541Humanname
156148743CV2131101single nucleotide variantNM_001379291.1(BRD4):c.3822G>A (p.Arg1274=)BRD4-related disorder [RCV003963526]|not provided [RCV002982575]likely benign191523894115238941Human1name , trait , alternate_id
156264200CV2143614single nucleotide variantNM_001379291.1(BRD4):c.791C>T (p.Ala264Val)not provided [RCV003009033]likely benign191526541215265412Humanname
155931965CV2156746single nucleotide variantNM_001379291.1(BRD4):c.899T>C (p.Ile300Thr)not provided [RCV003013683]uncertain significance191526471715264717Humanname
156397372CV2178408single nucleotide variantNM_001379291.1(BRD4):c.689C>G (p.Pro230Arg)not provided [RCV003051990]uncertain significance191526551415265514Humanname
156078832CV2248397single nucleotide variantNM_001379291.1(BRD4):c.784G>A (p.Ala262Thr)Inborn genetic diseases [RCV002797832]uncertain significance191526541915265419Human1name
155942779CV2298306single nucleotide variantNM_001379291.1(BRD4):c.721G>A (p.Val241Met)Inborn genetic diseases [RCV002879861]uncertain significance191526548215265482Human1name
156195138CV2347434single nucleotide variantNM_001379291.1(BRD4):c.598A>T (p.Thr200Ser)Inborn genetic diseases [RCV002984854]|not provided [RCV003669350]uncertain significance191526560515265605Human1name
155931737CV2370999single nucleotide variantNM_001379291.1(BRD4):c.350A>G (p.Asn117Ser)Inborn genetic diseases [RCV002684272]uncertain significance191526897815268978Human1name
156062022CV2380312single nucleotide variantNM_001379291.1(BRD4):c.692A>C (p.Asp231Ala)Inborn genetic diseases [RCV002693480]uncertain significance191526551115265511Human1name
329380023CV2444153single nucleotide variantNM_001379291.1(BRD4):c.746C>T (p.Thr249Met)Inborn genetic diseases [RCV003175301]|not provided [RCV005101258]uncertain significance191526545715265457Human1name
401745171CV2698482single nucleotide variantNM_001379291.1(BRD4):c.683T>G (p.Val228Gly)Inborn genetic diseases [RCV003275447]uncertain significance191526552015265520Human1name
401795861CV2742826deletionNM_001379291.1(BRD4):c.1960del (p.Ile654fs)not provided [RCV003325342]likely pathogenic191525538415255384Humanname
401875286CV2765979single nucleotide variantNM_001379291.1(BRD4):c.658G>A (p.Ala220Thr)Inborn genetic diseases [RCV003347657]|not provided [RCV003549070]uncertain significance191526554515265545Human1name
401881900CV2774651single nucleotide variantNM_001379291.1(BRD4):c.380A>C (p.Gln127Pro)Inborn genetic diseases [RCV003350227]uncertain significance191526894815268948Human1name
401908961CV2803758single nucleotide variantNM_001379291.1(BRD4):c.577G>C (p.Val193Leu)BRD4-related disorder [RCV003397734]uncertain significance191526562615265626Humanname , trait , alternate_id
401908565CV2811713single nucleotide variantNM_001379291.1(BRD4):c.3636C>T (p.Thr1212=)not provided [RCV003423396]likely benign191523920515239205Humanname
401907015CV2811714single nucleotide variantNM_001379291.1(BRD4):c.3384G>A (p.Ser1128=)not provided [RCV003421879]likely benign191523972015239720Humanname
401907016CV2811716single nucleotide variantNM_001379291.1(BRD4):c.3063T>C (p.His1021=)not provided [RCV003421880]likely benign191524300615243006Humanname
401908516CV2811756single nucleotide variantNM_001379291.1(BRD4):c.760C>T (p.Pro254Ser)Inborn genetic diseases [RCV004963655]|not provided [RCV003423415]uncertain significance191526544315265443Human1name
401941716CV2839410single nucleotide variantNM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)Cornelia de Lange syndrome 6 [RCV003449005]|Mental disorder [RCV003985032]pathogenic|uncertain significance191526473315264733Human3name
402495417CV2883765single nucleotide variantNM_001379291.1(BRD4):c.3504C>T (p.Asn1168=)not provided [RCV003573448]likely benign191523946415239464Humanname
405121030CV2888040single nucleotide variantNM_001379291.1(BRD4):c.682G>A (p.Val228Ile)not provided [RCV003559094]benign191526552115265521Humanname
402466320CV2914716single nucleotide variantNM_001379291.1(BRD4):c.3192C>G (p.Ser1064=)not provided [RCV003569424]likely benign191524000015240000Humanname
402501171CV2923102single nucleotide variantNM_001379291.1(BRD4):c.646C>T (p.Pro216Ser)not provided [RCV003573950]uncertain significance191526555715265557Humanname
402485204CV2931573single nucleotide variantNM_001379291.1(BRD4):c.4080T>C (p.Asn1360=)not provided [RCV003572461]likely benign191523838615238386Humanname
405100487CV2938329single nucleotide variantNM_001379291.1(BRD4):c.3721C>T (p.Leu1241=)not provided [RCV003665934]likely benign191523912015239120Humanname
402508406CV2938348single nucleotide variantNM_001379291.1(BRD4):c.3093G>A (p.Pro1031=)not provided [RCV003662303]likely benign191524297615242976Humanname
405124907CV2939294single nucleotide variantNM_001379291.1(BRD4):c.715A>G (p.Met239Val)not provided [RCV003671857]uncertain significance191526548815265488Humanname
402485814CV2945067single nucleotide variantNM_001379291.1(BRD4):c.688C>T (p.Pro230Ser)not provided [RCV003660060]uncertain significance191526551515265515Humanname
405078693CV2945420single nucleotide variantNM_001379291.1(BRD4):c.3735C>G (p.Ala1245=)not provided [RCV003664443]likely benign191523910615239106Humanname
405122347CV2952568single nucleotide variantNM_001379291.1(BRD4):c.693C>G (p.Asp231Glu)not provided [RCV003671560]uncertain significance191526551015265510Humanname
405240910CV2970640single nucleotide variantNM_001379291.1(BRD4):c.920C>T (p.Pro307Leu)Inborn genetic diseases [RCV005311024]|not provided [RCV003684049]uncertain significance191526469615264696Human1name
405254980CV3000084single nucleotide variantNM_001379291.1(BRD4):c.3951C>T (p.Pro1317=)not provided [RCV003723255]likely benign191523881215238812Humanname
405058700CV3019821single nucleotide variantNM_001379291.1(BRD4):c.338G>T (p.Arg113Leu)not provided [RCV003697527]likely pathogenic191526899015268990Humanname
405062023CV3020501single nucleotide variantNM_001379291.1(BRD4):c.3858G>A (p.Gln1286=)not provided [RCV003697754]likely benign191523890515238905Humanname
405063107CV3020612single nucleotide variantNM_001379291.1(BRD4):c.3663C>T (p.Ser1221=)not provided [RCV003697830]likely benign191523917815239178Humanname
405122982CV3020974single nucleotide variantNM_001379291.1(BRD4):c.746C>G (p.Thr249Arg)not provided [RCV003700959]uncertain significance191526545715265457Humanname
405147921CV3024073single nucleotide variantNM_001379291.1(BRD4):c.928C>A (p.Pro310Thr)not provided [RCV003703014]conflicting interpretations of pathogenicity|uncertain significance191526468815264688Humanname
405148461CV3024242single nucleotide variantNM_001379291.1(BRD4):c.3492C>T (p.Pro1164=)not provided [RCV003703114]likely benign191523947615239476Humanname
405088469CV3024894single nucleotide variantNM_001379291.1(BRD4):c.3720C>G (p.Ala1240=)not provided [RCV003699490]likely benign191523912115239121Humanname
405178646CV3027486single nucleotide variantNM_001379291.1(BRD4):c.3060C>T (p.Pro1020=)not provided [RCV003705250]likely benign191524300915243009Humanname
405183638CV3032007single nucleotide variantNM_001379291.1(BRD4):c.3879A>G (p.Gln1293=)not provided [RCV003705793]likely benign191523888415238884Humanname
405208781CV3037258single nucleotide variantNM_001379291.1(BRD4):c.3594C>T (p.Asn1198=)not provided [RCV003708359]likely benign191523924715239247Humanname
405207105CV3040120single nucleotide variantNM_001379291.1(BRD4):c.802G>T (p.Val268Leu)not provided [RCV003708146]uncertain significance191526540115265401Humanname
405141431CV3045993single nucleotide variantNM_001379291.1(BRD4):c.517A>G (p.Ile173Val)not provided [RCV003725628]conflicting interpretations of pathogenicity|uncertain significance191526745815267458Humanname
405245855CV3051700single nucleotide variantNM_001379291.1(BRD4):c.4059A>G (p.Leu1353=)not provided [RCV003720409]likely benign191523840715238407Humanname
405135616CV3052128single nucleotide variantNM_001379291.1(BRD4):c.923C>T (p.Ser308Leu)not provided [RCV003725211]uncertain significance191526469315264693Humanname
405250700CV3053062single nucleotide variantNM_001379291.1(BRD4):c.617C>T (p.Pro206Leu)not provided [RCV003721694]uncertain significance191526558615265586Humanname
405181641CV3057360single nucleotide variantNM_001379291.1(BRD4):c.3522C>A (p.Ala1174=)not provided [RCV003728838]benign191523944615239446Humanname
405151236CV3063662single nucleotide variantNM_001379291.1(BRD4):c.3366C>T (p.Ser1122=)not provided [RCV003726362]likely benign191523973815239738Humanname
405043105CV3074185single nucleotide variantNM_001379291.1(BRD4):c.3933G>A (p.Gln1311=)not provided [RCV003740070]likely benign191523883015238830Humanname
405045628CV3074357single nucleotide variantNM_001379291.1(BRD4):c.3060C>G (p.Pro1020=)not provided [RCV003740164]likely benign191524300915243009Humanname
405076863CV3081177duplicationNM_001379291.1(BRD4):c.2728dup (p.Gln910fs)Cornelia de Lange syndrome 6 [RCV003764467]likely pathogenic191524334015243341Human1name
402516680CV3135862single nucleotide variantNM_001379291.1(BRD4):c.3420C>T (p.Ile1140=)not provided [RCV003824488]likely benign191523968415239684Humanname
405211394CV3146342single nucleotide variantNM_001379291.1(BRD4):c.3498G>A (p.Glu1166=)not provided [RCV003845873]likely benign191523947015239470Humanname
405225736CV3158896single nucleotide variantNM_001379291.1(BRD4):c.671C>G (p.Pro224Arg)Inborn genetic diseases [RCV005311090]|not provided [RCV003864198]uncertain significance191526553215265532Human1name
405237360CV3169209single nucleotide variantNM_001379291.1(BRD4):c.3090G>A (p.Pro1030=)not provided [RCV003866488]likely benign191524297915242979Humanname
405270144CV3187627single nucleotide variantNM_001379291.1(BRD4):c.3471C>T (p.Val1157=)not provided [RCV003887711]likely benign191523949715239497Humanname
405256142CV3208651single nucleotide variantNM_001379291.1(BRD4):c.3156C>T (p.Asp1052=)BRD4-related disorder [RCV003939717]likely benign191524291315242913Humanname , trait , alternate_id
405291219CV3222228single nucleotide variantNM_001379291.1(BRD4):c.703C>T (p.Gln235Ter)Mental disorder [RCV003985063]likely pathogenic191526550015265500Human2name
405654460CV3228124single nucleotide variantNM_001379291.1(BRD4):c.3867G>A (p.Gln1289=)not specified [RCV003994859]likely benign191523889615238896Humanname
405765137CV3302124single nucleotide variantNM_001379291.1(BRD4):c.577G>A (p.Val193Ile)Inborn genetic diseases [RCV004434307]uncertain significance191526562615265626Human1name
405765150CV3302126single nucleotide variantNM_001379291.1(BRD4):c.952C>G (p.Leu318Val)Inborn genetic diseases [RCV004434309]uncertain significance191526466415264664Human1name
407456369CV3415872single nucleotide variantNM_001379291.1(BRD4):c.671C>T (p.Pro224Leu)not provided [RCV004598749]uncertain significance191526553215265532Humanname
407481292CV3421371single nucleotide variantNM_001379291.1(BRD4):c.825C>G (p.Ile275Met)Inborn genetic diseases [RCV004602445]uncertain significance191526537815265378Human1name
407481297CV3421372single nucleotide variantNM_001379291.1(BRD4):c.904C>G (p.Pro302Ala)Inborn genetic diseases [RCV004602446]uncertain significance191526471215264712Human1name
407481305CV3421374single nucleotide variantNM_001379291.1(BRD4):c.763C>T (p.Pro255Ser)Inborn genetic diseases [RCV004602448]uncertain significance191526544015265440Human1name
407481310CV3421375single nucleotide variantNM_001379291.1(BRD4):c.976C>T (p.Arg326Trp)Inborn genetic diseases [RCV004602449]uncertain significance191526464015264640Human1name
408365553CV3507540single nucleotide variantNM_001379291.1(BRD4):c.992C>T (p.Pro331Leu)BRD4-related disorder [RCV004755081]uncertain significance191526462415264624Humanname , trait , alternate_id
408390812CV3527744single nucleotide variantNM_001379291.1(BRD4):c.538G>A (p.Gly180Arg)not provided [RCV004775013]uncertain significance191526743715267437Humanname
596920372CV3534555single nucleotide variantNM_001379291.1(BRD4):c.3465G>T (p.Val1155=)not specified [RCV004782116]likely benign191523950315239503Humanname
596943048CV3542733single nucleotide variantNM_001379291.1(BRD4):c.884C>T (p.Thr295Ile)not provided [RCV004798317]uncertain significance191526473215264732Humanname
597637340CV3637007single nucleotide variantNM_001379291.1(BRD4):c.926T>G (p.Leu309Arg)Inborn genetic diseases [RCV004970150]uncertain significance191526469015264690Human1name
597637361CV3637012single nucleotide variantNM_001379291.1(BRD4):c.691G>A (p.Asp231Asn)Inborn genetic diseases [RCV004970155]uncertain significance191526551215265512Human1name
597720281CV3733576single nucleotide variantNM_001379291.1(BRD4):c.875C>G (p.Ala292Gly)not provided [RCV005052767]uncertain significance191526474115264741Humanname
597833206CV3735514single nucleotide variantNM_001379291.1(BRD4):c.599C>G (p.Thr200Ser)not provided [RCV005063376]uncertain significance191526560415265604Humanname
597940635CV3772827single nucleotide variantNM_001379291.1(BRD4):c.809G>C (p.Ser270Thr)not provided [RCV005118457]uncertain significance191526539415265394Humanname
597937755CV3774750single nucleotide variantNM_001379291.1(BRD4):c.338G>A (p.Arg113His)not provided [RCV005117783]uncertain significance191526899015268990Humanname
597944429CV3776594single nucleotide variantNM_001379291.1(BRD4):c.313A>G (p.Met105Val)not provided [RCV005119450]uncertain significance191526901515269015Humanname
597909172CV3781969single nucleotide variantNM_001379291.1(BRD4):c.3984C>T (p.Ala1328=)not provided [RCV005128461]likely benign191523877915238779Humanname
597947520CV3807532single nucleotide variantNM_001379291.1(BRD4):c.3804G>T (p.Ala1268=)not provided [RCV005160167]likely benign191523895915238959Humanname
597921758CV3808086single nucleotide variantNM_001379291.1(BRD4):c.964C>T (p.Arg322Trp)not provided [RCV005155794]uncertain significance191526465215264652Humanname
597916620CV3811004single nucleotide variantNM_001379291.1(BRD4):c.3864G>A (p.Gln1288=)not provided [RCV005155039]likely benign191523889915238899Humanname
597920224CV3811756single nucleotide variantNM_001379291.1(BRD4):c.598A>G (p.Thr200Ala)not provided [RCV005155587]uncertain significance191526560515265605Humanname
597874655CV3813008single nucleotide variantNM_001379291.1(BRD4):c.3510G>A (p.Pro1170=)not provided [RCV005148944]likely benign191523945815239458Humanname
597892120CV3822856single nucleotide variantNM_001379291.1(BRD4):c.3804G>A (p.Ala1268=)not provided [RCV005179932]likely benign191523895915238959Humanname
597878079CV3825879single nucleotide variantNM_001379291.1(BRD4):c.3288G>A (p.Leu1096=)not provided [RCV005177753]likely benign191523981615239816Humanname
597897675CV3826531single nucleotide variantNM_001379291.1(BRD4):c.3702A>G (p.Lys1234=)not provided [RCV005180664]likely benign191523913915239139Humanname
597910683CV3830198single nucleotide variantNM_001379291.1(BRD4):c.3345C>T (p.Ile1115=)not provided [RCV005182768]likely benign191523975915239759Humanname
597912970CV3833730single nucleotide variantNM_001379291.1(BRD4):c.3807G>A (p.Leu1269=)not provided [RCV005183090]likely benign191523895615238956Humanname
597956543CV3838248single nucleotide variantNM_001379291.1(BRD4):c.3300C>T (p.Ser1100=)not provided [RCV005191623]likely benign191523980415239804Humanname
597957140CV3838437single nucleotide variantNM_001379291.1(BRD4):c.4057C>T (p.Leu1353=)not provided [RCV005191812]likely benign191523840915238409Humanname
597925145CV3840511single nucleotide variantNM_001379291.1(BRD4):c.3552G>A (p.Pro1184=)not provided [RCV005184982]likely benign191523941615239416Humanname
597934040CV3844802single nucleotide variantNM_001379291.1(BRD4):c.3102C>T (p.Ala1034=)not provided [RCV005186308]benign191524296715242967Humanname
597948780CV3848747single nucleotide variantNM_001379291.1(BRD4):c.3036G>A (p.Pro1012=)not provided [RCV005189684]likely benign191524303315243033Humanname
597901650CV3855062single nucleotide variantNM_001379291.1(BRD4):c.3213C>A (p.Pro1071=)not provided [RCV005201971]likely benign191523997915239979Humanname
597887877CV3859399single nucleotide variantNM_001379291.1(BRD4):c.4020C>T (p.Ala1340=)not provided [RCV005200055]uncertain significance191523874315238743Humanname
598129884CV3887308duplicationNM_001379291.1(BRD4):c.2872dup (p.Leu958fs)not provided [RCV005245368]likely pathogenic191524319615243197Humanname
598173622CV3938880single nucleotide variantNM_001379291.1(BRD4):c.580T>G (p.Ser194Ala)Inborn genetic diseases [RCV005309581]uncertain significance191526562315265623Human1name
598173629CV3938883single nucleotide variantNM_001379291.1(BRD4):c.754C>T (p.Pro252Ser)Inborn genetic diseases [RCV005309583]uncertain significance191526544915265449Human1name
598173640CV3938885single nucleotide variantNM_001379291.1(BRD4):c.817C>G (p.Pro273Ala)Inborn genetic diseases [RCV005309585]uncertain significance191526538615265386Human1name
598173646CV3938886single nucleotide variantNM_001379291.1(BRD4):c.412A>T (p.Ile138Phe)Inborn genetic diseases [RCV005309586]uncertain significance191526891615268916Human1name
617154426CV4022546single nucleotide variantNM_001379291.1(BRD4):c.352T>C (p.Tyr118His)not provided [RCV005429903]uncertain significance191526897615268976Humanname
15160279CV716235single nucleotide variantNM_001379291.1(BRD4):c.3681C>T (p.Phe1227=)not provided [RCV000969869]benign|likely benign191523916015239160Humanname
15165389CV727971single nucleotide variantNM_001379291.1(BRD4):c.3927C>T (p.Thr1309=)BRD4-related disorder [RCV003940450]|not provided [RCV000882400]benign191523883615238836Human1name , trait , alternate_id
15201643CV727972single nucleotide variantNM_001379291.1(BRD4):c.3690C>T (p.Ala1230=)not provided [RCV000891249]benign|likely benign191523915115239151Humanname
15165394CV727973single nucleotide variantNM_001379291.1(BRD4):c.3489G>A (p.Arg1163=)BRD4-related disorder [RCV003940451]|not provided [RCV000882401]benign191523947915239479Human1name , trait , alternate_id
39456902CV966311single nucleotide variantNM_001379291.1(BRD4):c.898A>G (p.Ile300Val)Inborn genetic diseases [RCV004035358]|not provided [RCV001256032]uncertain significance191526471815264718Human1name
151716998CV1334822single nucleotide variantNM_001379291.1(BRD4):c.1021C>T (p.His341Tyr)Developmental disorder [RCV001843778]likely benign191526459515264595Human1name
151824034CV1421072single nucleotide variantNM_001379291.1(BRD4):c.2096C>G (p.Ser699Trp)not provided [RCV001869898]uncertain significance191525421415254214Humanname
153346198CV1691596single nucleotide variantNM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr)De Lange syndrome [RCV002273079]uncertain significance191525700815257008Human1name
153346476CV1691754single nucleotide variantNM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe)De Lange syndrome [RCV002273237]uncertain significance191525417515254175Human1name
155645212CV1706795single nucleotide variantNM_001379291.1(BRD4):c.2239C>T (p.Gln747Ter)not specified [RCV002287868]pathogenic191524457315244573Humanname
155669650CV1770934single nucleotide variantNM_001379291.1(BRD4):c.1781A>T (p.Lys594Met)not provided [RCV002297267]uncertain significance191525556315255563Humanname
155669712CV1770939single nucleotide variantNM_001379291.1(BRD4):c.2861C>T (p.Pro954Leu)not provided [RCV002297271]uncertain significance191524320815243208Humanname
155665193CV1773305single nucleotide variantNM_001379291.1(BRD4):c.2356C>T (p.Pro786Ser)not provided [RCV002297017]uncertain significance191524445615244456Humanname
155673799CV1774270single nucleotide variantNM_001379291.1(BRD4):c.1275G>A (p.Met425Ile)not provided [RCV002297671]uncertain significance191526348615263486Humanname
155671164CV1775698single nucleotide variantNM_001379291.1(BRD4):c.2543C>T (p.Pro848Leu)not provided [RCV002297372]uncertain significance191524426915244269Humanname
155714082CV1775975single nucleotide variantNM_001379291.1(BRD4):c.1832C>T (p.Ser611Phe)not provided [RCV002296316]uncertain significance191525551215255512Humanname
155686617CV1777657single nucleotide variantNM_001379291.1(BRD4):c.1499C>A (p.Thr500Asn)not provided [RCV002299037]uncertain significance191525701615257016Humanname
155695894CV1778539single nucleotide variantNM_001379291.1(BRD4):c.1642A>G (p.Lys548Glu)not provided [RCV002299618]uncertain significance191525617315256173Humanname
155803858CV1858424single nucleotide variantNM_001379291.1(BRD4):c.1504G>A (p.Asp502Asn)not provided [RCV002462734]uncertain significance191525701115257011Humanname
155797163CV1860196single nucleotide variantNM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)De Lange syndrome [RCV002466837]uncertain significance191524324415243244Human1name
155998196CV1872589single nucleotide variantNM_001379291.1(BRD4):c.2509C>G (p.Pro837Ala)not provided [RCV003076450]uncertain significance191524430315244303Humanname
156395409CV1877118single nucleotide variantNM_001379291.1(BRD4):c.2363A>G (p.Gln788Arg)not provided [RCV003068531]uncertain significance191524444915244449Humanname
156188709CV1882698single nucleotide variantNM_001379291.1(BRD4):c.1817A>C (p.Lys606Thr)not provided [RCV003083802]uncertain significance191525552715255527Humanname
156371916CV1901473single nucleotide variantNM_001379291.1(BRD4):c.2563G>A (p.Ala855Thr)BRD4-related disorder [RCV004754927]|not provided [RCV002582484]uncertain significance191524424915244249Human1name , trait , alternate_id
156135372CV1914612single nucleotide variantNM_001379291.1(BRD4):c.2980C>T (p.Pro994Ser)not provided [RCV002623466]uncertain significance191524308915243089Humanname
156049281CV1914967single nucleotide variantNM_001379291.1(BRD4):c.2006G>A (p.Arg669His)not provided [RCV002620546]uncertain significance191525533815255338Humanname
156406899CV1917909single nucleotide variantNM_001379291.1(BRD4):c.2446G>A (p.Val816Ile)not provided [RCV002606736]uncertain significance191524436615244366Humanname
156206917CV1922934single nucleotide variantNM_001379291.1(BRD4):c.2419G>A (p.Val807Ile)not provided [RCV002643842]uncertain significance191524439315244393Humanname
156434474CV1940053single nucleotide variantNM_001379291.1(BRD4):c.2867C>A (p.Pro956His)not provided [RCV003104468]uncertain significance191524320215243202Humanname
156440282CV1946643single nucleotide variantNM_001379291.1(BRD4):c.2668G>A (p.Val890Met)not provided [RCV003110313]uncertain significance191524340115243401Humanname
156446836CV1948198single nucleotide variantNM_001379291.1(BRD4):c.2194G>A (p.Gly732Arg)not provided [RCV003118355]uncertain significance191524472715244727Humanname
156448439CV1950717single nucleotide variantNM_001379291.1(BRD4):c.2707C>G (p.Pro903Ala)not provided [RCV003120001]uncertain significance191524336215243362Humanname
155915100CV2033331single nucleotide variantNM_001379291.1(BRD4):c.1745A>G (p.Asn582Ser)Inborn genetic diseases [RCV004603225]|not provided [RCV002750420]likely benign|uncertain significance191525607015256070Human1name
156010915CV2035453single nucleotide variantNM_001379291.1(BRD4):c.1264G>A (p.Val422Ile)not provided [RCV002795096]uncertain significance191526349715263497Humanname
156126049CV2046776single nucleotide variantNM_001379291.1(BRD4):c.2297C>T (p.Pro766Leu)not provided [RCV002800423]uncertain significance191524451515244515Humanname
156027642CV2048954single nucleotide variantNM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg)De Lange syndrome [RCV002795891]uncertain significance191525539815255398Human1name
156274961CV2056157single nucleotide variantNM_001379291.1(BRD4):c.1228C>T (p.Arg410Cys)not provided [RCV002806792]uncertain significance191526353315263533Humanname
156107687CV2061931single nucleotide variantNM_001379291.1(BRD4):c.2459T>A (p.Ile820Asn)not provided [RCV002824796]uncertain significance191524435315244353Humanname
156160972CV2074246single nucleotide variantNM_001379291.1(BRD4):c.2864C>A (p.Pro955Gln)not provided [RCV002851209]uncertain significance191524320515243205Humanname
156196566CV2095373single nucleotide variantNM_001379291.1(BRD4):c.1787C>G (p.Pro596Arg)not provided [RCV002917638]uncertain significance191525555715255557Humanname
155946540CV2107912single nucleotide variantNM_001379291.1(BRD4):c.1445C>T (p.Pro482Leu)Inborn genetic diseases [RCV002904799]|not provided [RCV002927165]likely benign|uncertain significance191525707015257070Human1name
156140252CV2109869single nucleotide variantNM_001379291.1(BRD4):c.1688G>A (p.Ser563Asn)BRD4-related disorder [RCV003936420]|not provided [RCV002928528]benign191525612715256127Human1name , trait , alternate_id
156388866CV2122255single nucleotide variantNM_001379291.1(BRD4):c.2192C>T (p.Pro731Leu)not provided [RCV002943704]benign191524472915244729Humanname
156144272CV2122608single nucleotide variantNM_001379291.1(BRD4):c.1328C>G (p.Ala443Gly)not provided [RCV002954342]uncertain significance191526343315263433Humanname
156005328CV2126540single nucleotide variantNM_001379291.1(BRD4):c.2935C>G (p.Pro979Ala)not provided [RCV002975377]uncertain significance191524313415243134Humanname
156043078CV2127027single nucleotide variantNM_001379291.1(BRD4):c.2461G>A (p.Gly821Ser)not provided [RCV002949697]uncertain significance191524435115244351Humanname
156322846CV2134275single nucleotide variantNM_001379291.1(BRD4):c.2375C>T (p.Ala792Val)not provided [RCV002963328]uncertain significance191524443715244437Humanname
156041012CV2146795single nucleotide variantNM_001379291.1(BRD4):c.2503C>G (p.Leu835Val)not provided [RCV003019057]uncertain significance191524430915244309Humanname
155912265CV2153363single nucleotide variantNM_001379291.1(BRD4):c.2333C>G (p.Pro778Arg)not provided [RCV003012342]benign191524447915244479Humanname
156302439CV2156630single nucleotide variantNM_001379291.1(BRD4):c.2627G>A (p.Arg876Gln)not provided [RCV003010450]uncertain significance191524344215243442Humanname
156259256CV2159404single nucleotide variantNM_001379291.1(BRD4):c.1322C>T (p.Ala441Val)not provided [RCV003026604]uncertain significance191526343915263439Humanname
156356966CV2166031single nucleotide variantNM_001379291.1(BRD4):c.2561A>T (p.His854Leu)not provided [RCV003031299]uncertain significance191524425115244251Humanname
156337109CV2168515single nucleotide variantNM_001379291.1(BRD4):c.1740C>G (p.Asn580Lys)not provided [RCV003030083]uncertain significance191525607515256075Humanname
156126721CV2185690single nucleotide variantNM_001379291.1(BRD4):c.2375C>A (p.Ala792Glu)not provided [RCV003055679]uncertain significance191524443715244437Humanname
156163371CV2319625single nucleotide variantNM_001379291.1(BRD4):c.1733G>A (p.Ser578Asn)Inborn genetic diseases [RCV002955403]|not provided [RCV003669347]uncertain significance191525608215256082Human1name
156052930CV2336775single nucleotide variantNM_001379291.1(BRD4):c.1694C>T (p.Ala565Val)Inborn genetic diseases [RCV002977902]|not provided [RCV003546931]uncertain significance191525612115256121Human1name
243049703CV2417065single nucleotide variantNM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)Cornelia de Lange syndrome 6 [RCV003448989]|See cases [RCV003151935]pathogenic|likely pathogenic191526347215263472Human1name
243050334CV2417413single nucleotide variantNM_001379291.1(BRD4):c.2078C>G (p.Ser693Cys)not provided [RCV003152285]uncertain significance191525423215254232Humanname
329350184CV2421604single nucleotide variantNM_001379291.1(BRD4):c.1982C>T (p.Pro661Leu)not provided [RCV003159306]uncertain significance191525536215255362Humanname
329395749CV2454521single nucleotide variantNM_001379291.1(BRD4):c.2015C>T (p.Thr672Ile)Inborn genetic diseases [RCV003194583]uncertain significance191525532915255329Human1name
329385533CV2462001single nucleotide variantNM_001379291.1(BRD4):c.1613A>G (p.Lys538Arg)Inborn genetic diseases [RCV003214463]uncertain significance191525620215256202Human1name
401723808CV2672184single nucleotide variantNM_001379291.1(BRD4):c.1400C>T (p.Ala467Val)not provided [RCV003239085]uncertain significance191525711515257115Humanname
401796349CV2740532single nucleotide variantNM_001379291.1(BRD4):c.1009G>A (p.Asp337Asn)not provided [RCV003321202]uncertain significance191526460715264607Humanname
401924254CV2795113single nucleotide variantNM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)Cornelia de Lange syndrome 1 [RCV003388887]uncertain significance191526346915263469Human1name
401931685CV2801535single nucleotide variantNM_001379291.1(BRD4):c.2041C>T (p.Pro681Ser)BRD4-related disorder [RCV003391549]uncertain significance191525530315255303Humanname , trait , alternate_id
401937102CV2811750single nucleotide variantNM_001379291.1(BRD4):c.1775A>G (p.Lys592Arg)not provided [RCV003415122]uncertain significance191525556915255569Humanname
401908511CV2811751single nucleotide variantNM_001379291.1(BRD4):c.1496C>T (p.Ser499Leu)not provided [RCV003423411]uncertain significance191525701915257019Humanname
402477379CV2853745single nucleotide variantNM_001379291.1(BRD4):c.1861G>A (p.Asp621Asn)not provided [RCV003543602]uncertain significance191525548315255483Humanname
405208287CV2870502single nucleotide variantNM_001379291.1(BRD4):c.1424C>T (p.Pro475Leu)not provided [RCV003552230]uncertain significance191525709115257091Humanname
405193728CV2872353single nucleotide variantNM_001379291.1(BRD4):c.2054A>C (p.Lys685Thr)not provided [RCV003550641]uncertain significance191525425615254256Humanname
405216309CV2872462single nucleotide variantNM_001379291.1(BRD4):c.1807G>T (p.Glu603Ter)not provided [RCV003553242]pathogenic191525553715255537Humanname
405216408CV2872478single nucleotide variantNM_001379291.1(BRD4):c.1653C>A (p.His551Gln)not provided [RCV003553254]uncertain significance191525616215256162Humanname
402504407CV2880025single nucleotide variantNM_001379291.1(BRD4):c.1214C>A (p.Ser405Tyr)not provided [RCV003546226]uncertain significance191526354715263547Humanname
405147119CV2881613single nucleotide variantNM_001379291.1(BRD4):c.1402G>A (p.Val468Met)not provided [RCV003561447]uncertain significance191525711315257113Humanname
402493492CV2887088single nucleotide variantNM_001379291.1(BRD4):c.2708C>G (p.Pro903Arg)not provided [RCV003573253]uncertain significance191524336115243361Humanname
405226828CV2888850single nucleotide variantNM_001379291.1(BRD4):c.2771C>T (p.Thr924Ile)not provided [RCV003554809]uncertain significance191524329815243298Humanname
405240463CV2893017single nucleotide variantNM_001379291.1(BRD4):c.1611G>C (p.Lys537Asn)not provided [RCV003557297]uncertain significance191525620415256204Humanname
405186743CV2921446single nucleotide variantNM_001379291.1(BRD4):c.2810A>G (p.Lys937Arg)not provided [RCV003564503]uncertain significance191524325915243259Humanname
402487476CV2928553single nucleotide variantNM_001379291.1(BRD4):c.1412C>T (p.Pro471Leu)not provided [RCV003572676]uncertain significance191525710315257103Humanname
405087449CV2943307single nucleotide variantNM_001379291.1(BRD4):c.2615G>A (p.Arg872Gln)not provided [RCV003665048]uncertain significance191524345415243454Humanname
405132010CV2949999single nucleotide variantNM_001379291.1(BRD4):c.1064A>G (p.Lys355Arg)not provided [RCV003672491]uncertain significance191526455215264552Humanname
405176799CV2952006single nucleotide variantNM_001379291.1(BRD4):c.2866C>A (p.Pro956Thr)not provided [RCV003675901]uncertain significance191524320315243203Humanname
405159010CV2956766single nucleotide variantNM_001379291.1(BRD4):c.2752C>T (p.Pro918Ser)not provided [RCV003674547]uncertain significance191524331715243317Humanname
405120029CV2957629single nucleotide variantNM_001379291.1(BRD4):c.1802C>G (p.Ser601Trp)not provided [RCV003667345]uncertain significance191525554215255542Humanname
405148015CV2960066single nucleotide variantNM_001379291.1(BRD4):c.1072A>G (p.Ser358Gly)not provided [RCV003669789]uncertain significance191526454415264544Humanname
405244660CV2968341single nucleotide variantNM_001379291.1(BRD4):c.2593G>A (p.Ala865Thr)not provided [RCV003684911]uncertain significance191524347615243476Humanname
405205314CV2990595single nucleotide variantNM_001379291.1(BRD4):c.2132C>G (p.Ser711Cys)not provided [RCV003678579]uncertain significance191525417815254178Humanname
405123414CV3020927single nucleotide variantNM_001379291.1(BRD4):c.2828C>A (p.Pro943Gln)not provided [RCV003700923]uncertain significance191524324115243241Humanname
405052088CV3022170single nucleotide variantNM_001379291.1(BRD4):c.2891C>T (p.Pro964Leu)not provided [RCV003697078]uncertain significance191524317815243178Humanname
405145412CV3023868single nucleotide variantNM_001379291.1(BRD4):c.2026C>T (p.Arg676Trp)not provided [RCV003702884]uncertain significance191525531815255318Humanname
405149363CV3024248single nucleotide variantNM_001379291.1(BRD4):c.2308C>G (p.Pro770Ala)not provided [RCV003703118]uncertain significance191524450415244504Humanname
405122324CV3024638single nucleotide variantNM_001379291.1(BRD4):c.1718C>T (p.Thr573Met)not provided [RCV003700825]uncertain significance191525609715256097Humanname
405177564CV3027454single nucleotide variantNM_001379291.1(BRD4):c.2921C>T (p.Pro974Leu)not provided [RCV003705231]uncertain significance191524314815243148Humanname
405179813CV3027729single nucleotide variantNM_001379291.1(BRD4):c.2345C>T (p.Pro782Leu)not provided [RCV003705420]uncertain significance191524446715244467Humanname
405205388CV3033704single nucleotide variantNM_001379291.1(BRD4):c.2279C>G (p.Pro760Arg)not provided [RCV003707937]uncertain significance191524453315244533Humanname
405185217CV3040359single nucleotide variantNM_001379291.1(BRD4):c.1357C>T (p.Arg453Cys)not provided [RCV003705951]uncertain significance191525715815257158Humanname
405200078CV3041182single nucleotide variantNM_001379291.1(BRD4):c.2152G>A (p.Glu718Lys)not provided [RCV003707357]uncertain significance191525415815254158Humanname
405200982CV3041325single nucleotide variantNM_001379291.1(BRD4):c.2143G>A (p.Glu715Lys)not provided [RCV003707438]uncertain significance191525416715254167Humanname
405163883CV3059388single nucleotide variantNM_001379291.1(BRD4):c.1111G>A (p.Ala371Thr)not provided [RCV003727291]uncertain significance191526450515264505Humanname
405184346CV3061837single nucleotide variantNM_001379291.1(BRD4):c.2510C>G (p.Pro837Arg)not provided [RCV003729117]uncertain significance191524430215244302Humanname
405162950CV3062754single nucleotide variantNM_001379291.1(BRD4):c.2876C>T (p.Pro959Leu)not provided [RCV003727228]uncertain significance191524319315243193Humanname
405212043CV3063140single nucleotide variantNM_001379291.1(BRD4):c.2272C>T (p.Pro758Ser)not provided [RCV003732148]uncertain significance191524454015244540Humanname
405041887CV3064082single nucleotide variantNM_001379291.1(BRD4):c.2357C>T (p.Pro786Leu)not provided [RCV003739961]likely benign191524445515244455Humanname
405231335CV3070615single nucleotide variantNM_001379291.1(BRD4):c.2458A>G (p.Ile820Val)not provided [RCV003734957]conflicting interpretations of pathogenicity|uncertain significance191524435415244354Humanname
402516720CV3135865single nucleotide variantNM_001379291.1(BRD4):c.2281C>T (p.Pro761Ser)not provided [RCV003824491]uncertain significance191524453115244531Humanname
405211401CV3146343single nucleotide variantNM_001379291.1(BRD4):c.2347C>T (p.Pro783Ser)not provided [RCV003845874]uncertain significance191524446515244465Humanname
402483668CV3171192single nucleotide variantNM_001379291.1(BRD4):c.2075C>T (p.Ser692Phe)not provided [RCV003876219]uncertain significance191525423515254235Humanname
405255540CV3172450single nucleotide variantNM_001379291.1(BRD4):c.2750A>G (p.Glu917Gly)not provided [RCV003872388]uncertain significance191524331915243319Humanname
405260091CV3186552single nucleotide variantNM_001379291.1(BRD4):c.2464C>A (p.His822Asn)not provided [RCV003884311]uncertain significance191524434815244348Humanname
405262025CV3194357single nucleotide variantNM_001379291.1(BRD4):c.2843T>C (p.Val948Ala)BRD4-related disorder [RCV003896389]uncertain significance191524322615243226Humanname , trait , alternate_id
405291220CV3222229single nucleotide variantNM_001379291.1(BRD4):c.1169A>G (p.Tyr390Cys)Learning Disabilities, Adolescent [RCV003985064]uncertain significance191526444715264447Humanname
405765105CV3302119single nucleotide variantNM_001379291.1(BRD4):c.1180A>G (p.Ile394Val)Inborn genetic diseases [RCV004434302]uncertain significance191526443615264436Human1name
405765111CV3302120single nucleotide variantNM_001379291.1(BRD4):c.1225G>A (p.Ala409Thr)Inborn genetic diseases [RCV004434303]|not provided [RCV005104576]uncertain significance191526353615263536Human1name
405765117CV3302121single nucleotide variantNM_001379291.1(BRD4):c.1490A>G (p.Asp497Gly)Inborn genetic diseases [RCV004434304]uncertain significance191525702515257025Human1name
405765123CV3302122single nucleotide variantNM_001379291.1(BRD4):c.1831T>A (p.Ser611Thr)Inborn genetic diseases [RCV004434305]uncertain significance191525551315255513Human1name
405765129CV3302123single nucleotide variantNM_001379291.1(BRD4):c.2112G>C (p.Glu704Asp)Inborn genetic diseases [RCV004434306]uncertain significance191525419815254198Human1name
407481301CV3421373single nucleotide variantNM_001379291.1(BRD4):c.1628A>G (p.Lys543Arg)Inborn genetic diseases [RCV004602447]uncertain significance191525618715256187Human1name
407481316CV3421376single nucleotide variantNM_001379291.1(BRD4):c.2057T>C (p.Val686Ala)Inborn genetic diseases [RCV004602450]uncertain significance191525425315254253Human1name
408365583CV3508108single nucleotide variantNM_001379291.1(BRD4):c.2389C>T (p.Pro797Ser)BRD4-related disorder [RCV004755117]uncertain significance191524442315244423Humanname , trait , alternate_id
408388680CV3522703single nucleotide variantNM_001379291.1(BRD4):c.1774A>G (p.Lys592Glu)not provided [RCV004769084]uncertain significance191525557015255570Humanname
408390782CV3527728single nucleotide variantNM_001379291.1(BRD4):c.1574T>C (p.Leu525Pro)not provided [RCV004774997]uncertain significance191525624115256241Humanname
408386466CV3528940single nucleotide variantNM_001379291.1(BRD4):c.1448C>T (p.Pro483Leu)not provided [RCV004772773]uncertain significance191525706715257067Humanname
596922602CV3530005single nucleotide variantNM_001379291.1(BRD4):c.2579C>G (p.Pro860Arg)not provided [RCV004776604]uncertain significance191524423315244233Humanname
596921326CV3534881single nucleotide variantNM_001379291.1(BRD4):c.1015C>G (p.Gln339Glu)not provided [RCV004784439]uncertain significance191526460115264601Humanname
596943941CV3544447single nucleotide variantNM_001379291.1(BRD4):c.2308C>T (p.Pro770Ser)not specified [RCV004800927]uncertain significance191524450415244504Humanname
597632285CV3552814single nucleotide variantNM_001379291.1(BRD4):c.1084A>C (p.Lys362Gln)not provided [RCV004823642]uncertain significance191526453215264532Humanname
597637336CV3637006single nucleotide variantNM_001379291.1(BRD4):c.1766C>T (p.Ala589Val)Inborn genetic diseases [RCV004970149]uncertain significance191525557815255578Human1name
597637345CV3637008single nucleotide variantNM_001379291.1(BRD4):c.1417G>A (p.Val473Met)Inborn genetic diseases [RCV004970151]uncertain significance191525709815257098Human1name
597637351CV3637010single nucleotide variantNM_001379291.1(BRD4):c.1172G>A (p.Cys391Tyr)Inborn genetic diseases [RCV004970153]uncertain significance191526444415264444Human1name
597637363CV3637013single nucleotide variantNM_001379291.1(BRD4):c.1669G>A (p.Val557Met)Inborn genetic diseases [RCV004970156]uncertain significance191525614615256146Human1name
597656516CV3731583single nucleotide variantNM_001379291.1(BRD4):c.2713A>G (p.Met905Val)not provided [RCV005001764]uncertain significance191524335615243356Humanname
597669523CV3732797single nucleotide variantNM_001379291.1(BRD4):c.2104G>C (p.Glu702Gln)not provided [RCV005004629]uncertain significance191525420615254206Humanname
597719926CV3733550single nucleotide variantNM_001379291.1(BRD4):c.2833C>G (p.Leu945Val)not provided [RCV005052740]uncertain significance191524323615243236Humanname
597869358CV3764605single nucleotide variantNM_001379291.1(BRD4):c.2084T>C (p.Met695Thr)not provided [RCV005107404]uncertain significance191525422615254226Humanname
597875752CV3766519single nucleotide variantNM_001379291.1(BRD4):c.2204A>G (p.Gln735Arg)not provided [RCV005108459]uncertain significance191524471715244717Humanname
597914790CV3778910single nucleotide variantNM_001379291.1(BRD4):c.1747G>A (p.Val583Met)not provided [RCV005129255]uncertain significance191525606815256068Humanname
597954522CV3795800single nucleotide variantNM_001379291.1(BRD4):c.2778G>A (p.Met926Ile)not provided [RCV005136810]uncertain significance191524329115243291Humanname
597955354CV3796212single nucleotide variantNM_001379291.1(BRD4):c.2890C>T (p.Pro964Ser)not provided [RCV005137029]uncertain significance191524317915243179Humanname
597852951CV3805746single nucleotide variantNM_001379291.1(BRD4):c.1792A>T (p.Thr598Ser)not provided [RCV005145676]uncertain significance191525555215255552Humanname
597936502CV3807655single nucleotide variantNM_001379291.1(BRD4):c.2822C>T (p.Pro941Leu)not provided [RCV005158034]uncertain significance191524324715243247Humanname
597924580CV3808662single nucleotide variantNM_001379291.1(BRD4):c.2932C>A (p.Pro978Thr)not provided [RCV005156176]uncertain significance191524313715243137Humanname
597894547CV3810071single nucleotide variantNM_001379291.1(BRD4):c.1402G>C (p.Val468Leu)not provided [RCV005151792]uncertain significance191525711315257113Humanname
597877452CV3813390single nucleotide variantNM_001379291.1(BRD4):c.1742G>A (p.Ser581Asn)not provided [RCV005149326]uncertain significance191525607315256073Humanname
597862146CV3813852single nucleotide variantNM_001379291.1(BRD4):c.2890C>G (p.Pro964Ala)not provided [RCV005146920]uncertain significance191524317915243179Humanname
597861300CV3822493single nucleotide variantNM_001379291.1(BRD4):c.1229G>A (p.Arg410His)not provided [RCV005175023]uncertain significance191526353215263532Humanname
597892259CV3822876single nucleotide variantNM_001379291.1(BRD4):c.2378T>C (p.Met793Thr)not provided [RCV005179952]uncertain significance191524443415244434Humanname
597930835CV3827018single nucleotide variantNM_001379291.1(BRD4):c.2152G>C (p.Glu718Gln)not provided [RCV005157031]uncertain significance191525415815254158Humanname
597930981CV3837640single nucleotide variantNM_001379291.1(BRD4):c.2071G>A (p.Gly691Ser)Inborn genetic diseases [RCV005311214]|not provided [RCV005185800]conflicting interpretations of pathogenicity|uncertain significance191525423915254239Human1name
597922305CV3843227single nucleotide variantNM_001379291.1(BRD4):c.1790C>T (p.Pro597Leu)not provided [RCV005184519]uncertain significance191525555415255554Humanname
597951846CV3847482single nucleotide variantNM_001379291.1(BRD4):c.1459G>A (p.Asp487Asn)not provided [RCV005190464]uncertain significance191525705615257056Humanname
598173624CV3938881single nucleotide variantNM_001379291.1(BRD4):c.1717A>T (p.Thr573Ser)Inborn genetic diseases [RCV005309582]uncertain significance191525609815256098Human1name
598210744CV3938882single nucleotide variantNM_001379291.1(BRD4):c.1847G>A (p.Arg616Gln)Inborn genetic diseases [RCV005315908]uncertain significance191525549715255497Human1name
598173635CV3938884single nucleotide variantNM_001379291.1(BRD4):c.1963G>A (p.Asp655Asn)Inborn genetic diseases [RCV005309584]uncertain significance191525538115255381Human1name
616934346CV4012344single nucleotide variantNM_001379291.1(BRD4):c.2918A>G (p.Gln973Arg)not specified [RCV005409380]uncertain significance191524315115243151Humanname
13532961CV512396single nucleotide variantNM_001379291.1(BRD4):c.1550A>C (p.Gln517Pro)Inborn genetic diseases [RCV000624732]likely pathogenic|uncertain significance191525696515256965Human1name
14350151CV590904single nucleotide variantNM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile)Short stature [RCV000736205]likely pathogenic191525548815255488Human2name
40816254CV969254single nucleotide variantNM_001379291.1(BRD4):c.1164C>A (p.His388Gln)De Lange syndrome [RCV001824169]uncertain significance191526445215264452Human1name
152086653CV1578157single nucleotide variantNM_001379291.1(BRD4):c.3290G>A (p.Arg1097His)not provided [RCV002171257]benign|likely benign191523981415239814Humanname
155265134CV1704617single nucleotide variantNM_001379291.1(BRD4):c.3088C>G (p.Pro1030Ala)not provided [RCV002284833]uncertain significance191524298115242981Humanname
155641652CV1709887duplicationNM_001379291.1(BRD4):c.2158+2707_2158+2713dupnot provided [RCV002292987]benign191525143815251439Humanname
156382154CV1868574single nucleotide variantNM_001379291.1(BRD4):c.3868C>T (p.Arg1290Cys)not provided [RCV003050573]uncertain significance191523889515238895Humanname
156393999CV1876282single nucleotide variantNM_001379291.1(BRD4):c.3035C>T (p.Pro1012Leu)not provided [RCV003068368]likely benign191524303415243034Humanname
156194455CV1889439single nucleotide variantNM_001379291.1(BRD4):c.3743C>T (p.Ala1248Val)not provided [RCV003083985]benign|likely benign191523909815239098Humanname
156321487CV1897877single nucleotide variantNM_001379291.1(BRD4):c.3061C>A (p.His1021Asn)BRD4-related disorder [RCV003936571]|not provided [RCV002579271]benign191524300815243008Human1name , trait , alternate_id
156414655CV1908983single nucleotide variantNM_001379291.1(BRD4):c.3430G>A (p.Val1144Ile)not provided [RCV002588733]likely benign191523967415239674Humanname
156208317CV1913346single nucleotide variantNM_001379291.1(BRD4):c.3067C>T (p.Pro1023Ser)not provided [RCV002595970]likely benign191524300215243002Humanname
156441722CV1941050single nucleotide variantNM_001379291.1(BRD4):c.3021C>A (p.His1007Gln)not provided [RCV003112053]uncertain significance191524304815243048Humanname
156446795CV1948152single nucleotide variantNM_001379291.1(BRD4):c.3925A>G (p.Thr1309Ala)not provided [RCV003118313]uncertain significance191523883815238838Humanname
156039370CV1998943single nucleotide variantNM_001379291.1(BRD4):c.3509C>T (p.Pro1170Leu)not provided [RCV002658974]uncertain significance191523945915239459Humanname
156055723CV2023862single nucleotide variantNM_001379291.1(BRD4):c.3664G>A (p.Asp1222Asn)not provided [RCV002736658]uncertain significance191523917715239177Humanname
156040991CV2026381single nucleotide variantNM_001379291.1(BRD4):c.3055C>T (p.Pro1019Ser)not provided [RCV002736183]uncertain significance191524301415243014Humanname
156051858CV2027382single nucleotide variantNM_001379291.1(BRD4):c.3265G>A (p.Val1089Ile)not provided [RCV002736538]uncertain significance191523992715239927Humanname
155915410CV2033394single nucleotide variantNM_001379291.1(BRD4):c.3814G>A (p.Ala1272Thr)not provided [RCV002750438]uncertain significance191523894915238949Humanname
156213319CV2038866single nucleotide variantNM_001379291.1(BRD4):c.3919G>A (p.Ala1307Thr)not provided [RCV002766687]uncertain significance191523884415238844Humanname
156001864CV2045612single nucleotide variantNM_001379291.1(BRD4):c.3566C>T (p.Ala1189Val)not provided [RCV002756246]uncertain significance191523940215239402Humanname
156314999CV2074804single nucleotide variantNM_001379291.1(BRD4):c.3113A>G (p.Gln1038Arg)not provided [RCV002834347]uncertain significance191524295615242956Humanname
156388501CV2122221single nucleotide variantNM_001379291.1(BRD4):c.3038C>T (p.Pro1013Leu)not provided [RCV002943677]uncertain significance191524303115243031Humanname
156121851CV2128563single nucleotide variantNM_001379291.1(BRD4):c.3389G>A (p.Arg1130Gln)not provided [RCV002953528]uncertain significance191523971515239715Humanname
155939943CV2142847single nucleotide variantNM_001379291.1(BRD4):c.3169G>A (p.Gly1057Ser)not provided [RCV002993986]uncertain significance191524290015242900Humanname
155944222CV2143188single nucleotide variantNM_001379291.1(BRD4):c.3070C>T (p.Pro1024Ser)not provided [RCV002994248]uncertain significance191524299915242999Humanname
155969895CV2157937single nucleotide variantNM_001379291.1(BRD4):c.4033A>G (p.Ile1345Val)not provided [RCV003033385]uncertain significance191523843315238433Humanname
156187582CV2178769single nucleotide variantNM_001379291.1(BRD4):c.3396G>C (p.Glu1132Asp)not provided [RCV003057726]uncertain significance191523970815239708Humanname
401908492CV2811715single nucleotide variantNM_001379291.1(BRD4):c.3139C>T (p.Arg1047Trp)not provided [RCV003423397]uncertain significance191524293015242930Humanname
401908500CV2811735duplicationNM_001379291.1(BRD4):c.2158+2712_2158+2713dupnot provided [RCV003423403]benign191525143815251439Humanname
401908501CV2811736duplicationNM_001379291.1(BRD4):c.2158+2710_2158+2713dupnot provided [RCV003423404]likely benign191525143815251439Humanname
401908503CV2811737duplicationNM_001379291.1(BRD4):c.2158+2706_2158+2713dupnot provided [RCV003423405]benign191525143815251439Humanname
401908504CV2811738duplicationNM_001379291.1(BRD4):c.2158+2705_2158+2713dupnot provided [RCV003423406]benign|likely benign191525143815251439Humanname
401907026CV2811739deletionNM_001379291.1(BRD4):c.2158+2706_2158+2713delnot provided [RCV003421888]benign191525143915251446Humanname
401916647CV2811741deletionNM_001379291.1(BRD4):c.2158+2696_2158+2704delnot provided [RCV003429164]likely benign191525144815251456Humanname
402498709CV2871902single nucleotide variantNM_001379291.1(BRD4):c.3766C>T (p.Arg1256Trp)not provided [RCV003545681]uncertain significance191523907515239075Humanname
405067697CV2875548single nucleotide variantNM_001379291.1(BRD4):c.3056C>A (p.Pro1019His)not provided [RCV003548340]uncertain significance191524301315243013Humanname
405225323CV2882001single nucleotide variantNM_001379291.1(BRD4):c.3473G>A (p.Gly1158Glu)not provided [RCV003554556]uncertain significance191523949515239495Humanname
405216581CV2897155single nucleotide variantNM_001379291.1(BRD4):c.3392C>T (p.Pro1131Leu)not provided [RCV003567859]uncertain significance191523971215239712Humanname
402472652CV2908644single nucleotide variantNM_001379291.1(BRD4):c.3175C>T (p.Leu1059Phe)not provided [RCV003570835]uncertain significance191524001715240017Humanname
402473291CV2908754single nucleotide variantNM_001379291.1(BRD4):c.3179G>A (p.Arg1060His)not provided [RCV003570899]uncertain significance191524001315240013Humanname
402471866CV2912064single nucleotide variantNM_001379291.1(BRD4):c.3230A>G (p.Gln1077Arg)not provided [RCV003570666]uncertain significance191523996215239962Humanname
405153465CV2949192single nucleotide variantNM_001379291.1(BRD4):c.3673G>A (p.Glu1225Lys)not provided [RCV003674090]uncertain significance191523916815239168Humanname
405130786CV2953719single nucleotide variantNM_001379291.1(BRD4):c.3501G>C (p.Gln1167His)not provided [RCV003672388]uncertain significance191523946715239467Humanname
405121161CV2953948single nucleotide variantNM_001379291.1(BRD4):c.3736G>A (p.Glu1246Lys)not provided [RCV003667462]uncertain significance191523910515239105Humanname
405150712CV2957022single nucleotide variantNM_001379291.1(BRD4):c.3155A>G (p.Asp1052Gly)not provided [RCV003670038]uncertain significance191524291415242914Humanname
405187505CV2964210single nucleotide variantNM_001379291.1(BRD4):c.3167C>T (p.Thr1056Ile)not provided [RCV003676892]uncertain significance191524290215242902Humanname
405198669CV2973173single nucleotide variantNM_001379291.1(BRD4):c.3232A>G (p.Ser1078Gly)not provided [RCV003677960]uncertain significance191523996015239960Humanname
402513520CV2991459single nucleotide variantNM_001379291.1(BRD4):c.3587T>C (p.Ile1196Thr)not provided [RCV003689745]uncertain significance191523925415239254Humanname
404989635CV2998711single nucleotide variantNM_001379291.1(BRD4):c.3817C>T (p.Arg1273Trp)not provided [RCV003692163]uncertain significance191523894615238946Humanname
404999131CV3008966single nucleotide variantNM_001379291.1(BRD4):c.3032C>T (p.Pro1011Leu)not provided [RCV003692999]uncertain significance191524303715243037Humanname
405063256CV3020628single nucleotide variantNM_001379291.1(BRD4):c.3844C>T (p.Arg1282Cys)not provided [RCV003697841]uncertain significance191523891915238919Humanname
405203192CV3036286single nucleotide variantNM_001379291.1(BRD4):c.3925A>T (p.Thr1309Ser)not provided [RCV003707581]uncertain significance191523883815238838Humanname
405234935CV3040742single nucleotide variantNM_001379291.1(BRD4):c.3509C>G (p.Pro1170Arg)not provided [RCV003712168]uncertain significance191523945915239459Humanname
402508870CV3042312single nucleotide variantNM_001379291.1(BRD4):c.3947A>T (p.Gln1316Leu)not provided [RCV003715486]uncertain significance191523881615238816Humanname
405175625CV3049215single nucleotide variantNM_001379291.1(BRD4):c.3089C>A (p.Pro1030Gln)not provided [RCV003728253]uncertain significance191524298015242980Humanname
405173832CV3052503single nucleotide variantNM_001379291.1(BRD4):c.3361C>T (p.Arg1121Cys)not provided [RCV003728139]uncertain significance191523974315239743Humanname
405174433CV3052606single nucleotide variantNM_001379291.1(BRD4):c.4066A>G (p.Ile1356Val)not provided [RCV003728216]uncertain significance191523840015238400Humanname
405183748CV3057847single nucleotide variantNM_001379291.1(BRD4):c.3289C>T (p.Arg1097Cys)not provided [RCV003729055]uncertain significance191523981515239815Humanname
405180001CV3060517single nucleotide variantNM_001379291.1(BRD4):c.3931C>G (p.Gln1311Glu)not provided [RCV003728683]uncertain significance191523883215238832Humanname
405189244CV3065207single nucleotide variantNM_001379291.1(BRD4):c.3173A>G (p.His1058Arg)not provided [RCV003729564]uncertain significance191524001915240019Humanname
405227466CV3069622single nucleotide variantNM_001379291.1(BRD4):c.3841C>T (p.Arg1281Trp)not provided [RCV003734300]uncertain significance191523892215238922Humanname
405130348CV3115001single nucleotide variantNM_001379291.1(BRD4):c.3056C>T (p.Pro1019Leu)not provided [RCV003815846]uncertain significance191524301315243013Humanname
405205637CV3117022single nucleotide variantNM_001379291.1(BRD4):c.3367G>A (p.Glu1123Lys)not provided [RCV003822506]uncertain significance191523973715239737Humanname
405204831CV3144155single nucleotide variantNM_001379291.1(BRD4):c.3647C>T (p.Thr1216Ile)not provided [RCV003844945]uncertain significance191523919415239194Humanname
405187174CV3149136single nucleotide variantNM_001379291.1(BRD4):c.3089C>T (p.Pro1030Leu)not provided [RCV003843062]uncertain significance191524298015242980Humanname
402509480CV3182171single nucleotide variantNM_001379291.1(BRD4):c.3404A>G (p.Lys1135Arg)not provided [RCV003878825]uncertain significance191523970015239700Humanname
407457573CV3416193single nucleotide variantNM_001379291.1(BRD4):c.3780G>A (p.Met1260Ile)not provided [RCV004599071]uncertain significance191523906115239061Humanname
408381735CV3526584single nucleotide variantNM_001379291.1(BRD4):c.3517G>C (p.Gly1173Arg)not provided [RCV004771897]uncertain significance191523945115239451Humanname
596947840CV3547426single nucleotide variantNM_001379291.1(BRD4):c.3062A>C (p.His1021Pro)not provided [RCV004811730]likely benign191524300715243007Humanname
596946417CV3548237single nucleotide variantNM_001379291.1(BRD4):c.3803C>T (p.Ala1268Val)not provided [RCV004810062]likely benign191523896015238960Humanname
596946452CV3548272single nucleotide variantNM_001379291.1(BRD4):c.3785G>A (p.Ser1262Asn)not provided [RCV004810097]likely benign191523897815238978Humanname
597651123CV3551933single nucleotide variantNM_001379291.1(BRD4):c.3694C>T (p.Arg1232Trp)not provided [RCV004820646]uncertain significance191523914715239147Humanname
597963986CV3754248single nucleotide variantNM_001379291.1(BRD4):c.3460C>T (p.Pro1154Ser)not provided [RCV005082355]uncertain significance191523950815239508Humanname
597838873CV3758164single nucleotide variantNM_001379291.1(BRD4):c.3008A>G (p.Gln1003Arg)not provided [RCV005085998]uncertain significance191524306115243061Humanname
597921860CV3774987single nucleotide variantNM_001379291.1(BRD4):c.3140G>A (p.Arg1047Gln)not provided [RCV005115333]uncertain significance191524292915242929Humanname
597942504CV3779930single nucleotide variantNM_001379291.1(BRD4):c.3772G>C (p.Glu1258Gln)not provided [RCV005118939]uncertain significance191523906915239069Humanname
597935094CV3793696single nucleotide variantNM_001379291.1(BRD4):c.3832G>A (p.Glu1278Lys)not provided [RCV005132352]uncertain significance191523893115238931Humanname
597960482CV3794664single nucleotide variantNM_001379291.1(BRD4):c.3209C>T (p.Ser1070Phe)not provided [RCV005138569]uncertain significance191523998315239983Humanname
597958720CV3797321single nucleotide variantNM_001379291.1(BRD4):c.3575A>G (p.Lys1192Arg)not provided [RCV005138008]uncertain significance191523939315239393Humanname
597962321CV3809139single nucleotide variantNM_001379291.1(BRD4):c.3016A>C (p.Thr1006Pro)not provided [RCV005164041]uncertain significance191524305315243053Humanname
597952924CV3815867single nucleotide variantNM_001379291.1(BRD4):c.3829G>A (p.Glu1277Lys)not provided [RCV005161620]uncertain significance191523893415238934Humanname
597948319CV3818286single nucleotide variantNM_001379291.1(BRD4):c.3433C>T (p.His1145Tyr)not provided [RCV005160547]uncertain significance191523967115239671Humanname
597963671CV3830262single nucleotide variantNM_001379291.1(BRD4):c.3923C>T (p.Ala1308Val)not provided [RCV005164402]uncertain significance191523884015238840Humanname
597914260CV3833907single nucleotide variantNM_001379291.1(BRD4):c.3290G>C (p.Arg1097Pro)not provided [RCV005183266]uncertain significance191523981415239814Humanname
597938198CV3852770single nucleotide variantNM_001379291.1(BRD4):c.3047G>T (p.Gly1016Val)not provided [RCV005187170]uncertain significance191524302215243022Humanname
597879866CV3857032single nucleotide variantNM_001379291.1(BRD4):c.3704A>T (p.Glu1235Val)not provided [RCV005198832]uncertain significance191523913715239137Humanname
597866825CV3857835single nucleotide variantNM_001379291.1(BRD4):c.3415A>G (p.Ser1139Gly)not provided [RCV005196783]uncertain significance191523968915239689Humanname
598126379CV3881889single nucleotide variantNM_001379291.1(BRD4):c.3904G>T (p.Ala1302Ser)not provided [RCV005233441]uncertain significance191523885915238859Humanname
617153039CV4021013single nucleotide variantNM_001379291.1(BRD4):c.3801T>A (p.Asp1267Glu)not provided [RCV005428766]likely benign191523896215238962Humanname
15192936CV704813single nucleotide variantNM_001379291.1(BRD4):c.3810G>C (p.Glu1270Asp)BRD4-related disorder [RCV003915866]|not provided [RCV000955222]benign|likely benign191523895315238953Human1name , trait , alternate_id
15201521CV727970single nucleotide variantNM_001379291.1(BRD4):c.3978G>T (p.Glu1326Asp)BRD4-related disorder [RCV004754611]|not provided [RCV000891215]benign191523878515238785Human1name , trait , alternate_id
15177167CV772500single nucleotide variantNM_001379291.1(BRD4):c.3328G>T (p.Val1110Leu)not provided [RCV000929091]likely benign191523977615239776Humanname
156158994CV2140636microsatelliteNM_001379291.1(BRD4):c.643CCT[2] (p.Pro217del)not provided [RCV003004991]conflicting interpretations of pathogenicity|uncertain significance191526555215265554Humanname
598218149CV3891625deletionNM_001379291.1(BRD4):c.394_395del (p.Met132fs)Cornelia de Lange syndrome 6 [RCV005252467]likely pathogenic191526893315268934Human1name
21070260CV789799deletionNM_001379291.1(BRD4):c.231_233del (p.His77del)Short stature [RCV000986204]likely pathogenic191527286715272869Human2name
26921893CV847409deletionNM_001379291.1(BRD4):c.358_367del (p.Trp120fs)not provided [RCV001050977]pathogenic191526896115268970Humanname
39456467CV965560deletionNM_001379291.1(BRD4):c.710_711del (p.Pro237fs)Cornelia de Lange syndrome 6 [RCV004799341]likely pathogenic191526549215265493Human1name
156120239CV2077890microsatelliteNM_001379291.1(BRD4):c.2217TCA[1] (p.His743del)not provided [RCV002889532]uncertain significance191524459015244592Humanname
156240574CV2085956microsatelliteNM_001379291.1(BRD4):c.1510GAG[2] (p.Glu506del)not provided [RCV002876581]uncertain significance191525699715256999Humanname
156109908CV2092822microsatelliteNM_001379291.1(BRD4):c.1733GCA[1] (p.Ser579del)not provided [RCV002913734]uncertain significance191525607715256079Humanname
156440671CV1943732microsatelliteNM_001379291.1(BRD4):c.3322GTG[2] (p.Val1110del)not provided [RCV003110708]likely benign191523977415239776Humanname
156019085CV2121583microsatelliteNM_001379291.1(BRD4):c.3334GAG[1] (p.Glu1113del)BRD4-related disorder [RCV003943627]|not provided [RCV002948684]benign191523976515239767Humanname , trait , alternate_id
401941714CV2839408indelNM_001379291.1(BRD4):c.1224delinsCA (p.Glu408fs)Cornelia de Lange syndrome 6 [RCV003449003]pathogenic191526353715263537Humanname
405007756CV3006554microsatelliteNM_001379291.1(BRD4):c.3851AGC[5] (p.Gln1289del)not provided [RCV003693727]uncertain significance191523889515238897Humanname
597832830CV3762142duplicationNM_001379291.1(BRD4):c.1698_1701dup (p.Pro568fs)Cornelia de Lange syndrome 6 [RCV005087560]likely pathogenic191525611315256114Human1name
153348991CV1693080duplicationNM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs)Syndromic intellectual disability [RCV002275374]likely pathogenic191523916815239169Human1name
155643082CV1706522duplicationNM_001379291.1(BRD4):c.3693_3709dup (p.Arg1237fs)Intellectual disability [RCV002287595]pathogenic191523913115239132Human2name
156376667CV1917723deletionNM_001379291.1(BRD4):c.2931_2933del (p.Pro980del)not provided [RCV002603639]likely benign191524313615243138Humanname
156440198CV1946560deletionNM_001379291.1(BRD4):c.2812_2814del (p.Val938del)not provided [RCV003110229]uncertain significance191524325515243257Humanname
156027574CV2156165deletionNM_001379291.1(BRD4):c.3540_3541del (p.Lys1181fs)not provided [RCV003018531]pathogenic191523942715239428Humanname
401941715CV2839409insertionNM_001379291.1(BRD4):c.2753_2754insT (p.Pro919fs)Cornelia de Lange syndrome 6 [RCV003449004]pathogenic191524331515243316Human1name
405076182CV3081160deletionNM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)Cornelia de Lange syndrome 6 [RCV003764456]likely pathogenic191523978515239792Human1name
597879493CV3810138microsatelliteNM_001379291.1(BRD4):c.2940CCAGCC[1] (p.981QP[1])not provided [RCV005149601]uncertain significance191524311815243123Humanname
150554138CV1296528indelNM_001379291.1(BRD4):c.1526_1527delinsTA (p.Gln509Leu)not provided [RCV001770765]uncertain significance191525698815256989Humanname
156237126CV2105207microsatelliteNM_001379291.1(BRD4):c.2900AGC[1] (p.Gln968_Gln969del)not provided [RCV002919161]uncertain significance191524316115243166Humanname
597637356CV3637011indelNM_001379291.1(BRD4):c.1393_1420delinsCAA (p.Val465fs)Inborn genetic diseases [RCV004970154]pathogenic191525709515257122Humanname
597911683CV3826783deletionNM_001379291.1(BRD4):c.889_897del (p.Pro297_Thr299del)not provided [RCV005182900]uncertain significance191526471915264727Humanname
156044885CV1927052deletionNM_001379291.1(BRD4):c.3869_3892del (p.1282RQEQQQQQ[1])not provided [RCV002637721]uncertain significance191523887115238894Humanname
155803907CV1858475deletionNM_001379291.1(BRD4):c.1420_1440del (p.Pro474_Val480del)not provided [RCV002462785]uncertain significance191525707515257095Humanname
156028454CV2049057deletionNM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del)De Lange syndrome [RCV002795945]|not provided [RCV005098516]uncertain significance191524326115243269Human1name
156238911CV2115771deletionNM_001379291.1(BRD4):c.2919_2969del (p.Gln973_Gln989del)not provided [RCV002919223]uncertain significance191524310015243150Humanname
405215619CV2981697deletionNM_001379291.1(BRD4):c.2307_2354del (p.Gln773_Gln788del)not provided [RCV003709277]uncertain significance191524445815244505Humanname
597852460CV3821201deletionNM_001379291.1(BRD4):c.2945_2962del (p.Pro982_Gln987del)not provided [RCV005173859]uncertain significance191524310715243124Humanname
597860147CV3826003deletionNM_001379291.1(BRD4):c.2909_2917del (p.Leu970_Gln972del)not provided [RCV005174901]uncertain significance191524315215243160Humanname
597883484CV3834780microsatelliteNM_001379291.1(BRD4):c.2206AAG[3] (p.Lys737_His738insLys)not provided [RCV005178503]uncertain significance191524470915244710Humanname
597965051CV3830676deletionNM_001379291.1(BRD4):c.3858_3878del (p.Arg1290_Gln1296del)not provided [RCV005164816]uncertain significance191523888515238905Humanname
597859511CV3832880deletionNM_001379291.1(BRD4):c.3885_3899del (p.Gln1296_Gln1300del)not provided [RCV005174793]uncertain significance191523886415238878Humanname
617154005CV4022168deletionNM_001379291.1(BRD4):c.3869_3889del (p.Arg1290_Gln1296del)not provided [RCV005429524]uncertain significance191523887415238894Humanname
405213072CV2878789microsatelliteNM_001379291.1(BRD4):c.3851AGC[7] (p.Gln1289_Arg1290insGln)not provided [RCV003552844]uncertain significance191523889415238895Humanname
156306333CV2115619microsatelliteNM_001379291.1(BRD4):c.2924CACCACCCC[1] (p.Pro978_Pro980del)not provided [RCV002922836]benign191524312815243136Humanname
156309221CV2123309duplicationNM_001379291.1(BRD4):c.3915_3917dup (p.Ala1308_Thr1309insAla)not provided [RCV002962520]uncertain significance191523884515238846Humanname
156258524CV2142331microsatelliteNM_001379291.1(BRD4):c.2897TGCAGCAGCAGC[1] (p.Leu970_Gln973del)not provided [RCV002988383]uncertain significance191524314915243160Humanname
402486803CV3034004microsatelliteNM_001379291.1(BRD4):c.2924AGC[3] (p.Pro974_Pro975insGlnGlnGln)not provided [RCV003713375]uncertain significance191524314515243146Humanname
405126140CV3043589microsatelliteNM_001379291.1(BRD4):c.2940CCAGCC[3] (p.Pro984_Pro985insGlnPro)not provided [RCV003724322]uncertain significance191524311715243118Humanname
597976397CV3829645duplicationNM_001379291.1(BRD4):c.3850_3855dup (p.Gln1285_Gln1286insGluGln)not provided [RCV005169912]uncertain significance191523890715238908Humanname
597655448CV3552234microsatelliteNM_001379291.1(BRD4):c.3889CAGCAA[3] (p.Gln1300_Ala1301insGlnGln)Cornelia de Lange syndrome 6 [RCV004821092]uncertain significance191523886215238863Humanname
150552866CV1295533indelNM_001379291.1(BRD4):c.1917_1923delinsCCTGAAGAATTCCAA (p.Arg640fs)not provided [RCV001768465]uncertain significance191525542115255427Humanname
408383898CV3506057indelNM_001379291.1(BRD4):c.2304_2315delinsTGT (p.Pro769_Gln772delinsVal)BRD4-related disorder [RCV004731381]uncertain significance191524449715244508Humanname , trait , alternate_id
156092746CV1963468microsatelliteNM_001379291.1(BRD4):c.2924CACCACCCC[3] (p.Pro980_Gln981insProProPro)not provided [RCV002570284]uncertain significance191524312715243128Humanname
156256056CV2185277duplicationNM_001379291.1(BRD4):c.2909_2923dup (p.Pro974_Pro975insLeuGlnGlnGlnPro)BRD4-related disorder [RCV003953825]|not provided [RCV003043957]benign|likely benign191524314515243146Human1name , trait , alternate_id
402467637CV3174141duplicationNM_001379291.1(BRD4):c.2874_2891dup (p.Pro964_Ser965insProProProProHisPro)not provided [RCV003873424]uncertain significance191524317715243178Humanname
156124897CV2185543duplicationNM_001379291.1(BRD4):c.2274_2294dup (p.Pro768_Pro769insGlnGlnProProProProPro)not provided [RCV003055611]uncertain significance191524451715244518Humanname
155940137CV2054894duplicationNM_001379291.1(BRD4):c.3855_3878dup (p.Gln1297_Gln1298insArgGlnGluGlnGlnGlnGlnGln)not provided [RCV002815638]uncertain significance191523888415238885Humanname