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


825 records found for search term Ror2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
10053431CV196256single nucleotide variantNM_004560.4(ROR2):c.*16G>AAutosomal recessive Robinow syndrome [RCV000357547]|Brachydactyly type B1 [RCV000305022]|not provided [RCV001689719]|not specified [RCV000180605]benign99172364691723646Human2name
11604471CV313571single nucleotide variantNM_004560.4(ROR2):c.-36A>GAutosomal recessive Robinow syndrome [RCV000309212]|Brachydactyly type B1 [RCV000359270]likely benign|uncertain significance99194999991949999Human2name
11599321CV313573single nucleotide variantNM_004560.4(ROR2):c.-60G>TAutosomal recessive Robinow syndrome [RCV000324615]|Brachydactyly type B1 [RCV000264551]benign|likely benign99195002391950023Human2name
11598935CV319357single nucleotide variantNM_004560.4(ROR2):c.-91G>AAutosomal recessive Robinow syndrome [RCV000261212]|Brachydactyly type B1 [RCV000379180]|not provided [RCV001558892]benign|likely benign99195005491950054Human2name
28886411CV902474single nucleotide variantNM_004560.4(ROR2):c.*46C>TAutosomal recessive Robinow syndrome [RCV001169058]|Brachydactyly type B1 [RCV001169057]uncertain significance99172361691723616Human2name
28886419CV902475single nucleotide variantNM_004560.4(ROR2):c.*38G>AAutosomal recessive Robinow syndrome [RCV001169060]|Brachydactyly type B1 [RCV001169059]uncertain significance99172362491723624Human2name
28879206CV902501single nucleotide variantNM_004560.4(ROR2):c.-66G>TAutosomal recessive Robinow syndrome [RCV001166971]|Brachydactyly type B1 [RCV001166972]uncertain significance99195002991950029Human2name
28879213CV902502single nucleotide variantNM_004560.4(ROR2):c.-90A>GAutosomal recessive Robinow syndrome [RCV001166973]|Brachydactyly type B1 [RCV001168685]uncertain significance99195005391950053Human2name
127258707CV1098355single nucleotide variantNM_004560.4(ROR2):c.97+7T>CBrachydactyly type B1 [RCV002501512]|not provided [RCV001427417]likely benign99194986091949860Human1name
11601368CV308858single nucleotide variantNM_004560.4(ROR2):c.*927C>TAutosomal recessive Robinow syndrome [RCV000281887]|Brachydactyly type B1 [RCV000376446]benign|likely benign99172273591722735Human2name
11606870CV308859single nucleotide variantNM_004560.4(ROR2):c.*886G>TAutosomal recessive Robinow syndrome [RCV000336945]|Brachydactyly type B1 [RCV000393410]benign|likely benign99172277691722776Human2name
11601321CV308866single nucleotide variantNM_004560.4(ROR2):c.*487C>GAutosomal recessive Robinow syndrome [RCV000317349]|Brachydactyly type B1 [RCV000281231]uncertain significance99172317591723175Human2name
11608118CV308867single nucleotide variantNM_004560.4(ROR2):c.*229C>TAutosomal recessive Robinow syndrome [RCV000351316]|Brachydactyly type B1 [RCV000397429]|not provided [RCV001591042]benign|likely benign99172343391723433Human2name
11609022CV308871single nucleotide variantNM_004560.4(ROR2):c.*135G>TAutosomal recessive Robinow syndrome [RCV000363114]|Brachydactyly type B1 [RCV000401563]|Brachydactyly type B1 [RCV002480256]uncertain significance99172352791723527Human2name
11603009CV308898single nucleotide variantNM_004560.4(ROR2):c.-135G>CAutosomal recessive Robinow syndrome [RCV000385667]|Brachydactyly type B1 [RCV000295759]uncertain significance99195009891950098Human2name
11600989CV313508single nucleotide variantNM_004560.4(ROR2):c.*766T>CAutosomal dominant Robinow syndrome 1 [RCV000352288]|Brachydactyly [RCV000278490]likely benign99172289691722896Human3name
11604691CV313523single nucleotide variantNM_004560.4(ROR2):c.*736A>GAutosomal recessive Robinow syndrome [RCV000312100]|Brachydactyly type B1 [RCV000399174]|not provided [RCV002285323]benign|likely benign99172292691722926Human2name
11609311CV313540single nucleotide variantNM_004560.4(ROR2):c.*712C>TAutosomal recessive Robinow syndrome [RCV000366805]|Brachydactyly type B1 [RCV000400639]|not provided [RCV001692080]benign99172295091722950Human2name
11604384CV313545single nucleotide variantNM_004560.4(ROR2):c.*682C>GAutosomal recessive Robinow syndrome [RCV000363658]|Brachydactyly type B1 [RCV000309031]uncertain significance99172298091722980Human2name
11599883CV313549single nucleotide variantNM_004560.4(ROR2):c.*558C>TAutosomal recessive Robinow syndrome [RCV000269046]|Brachydactyly type B1 [RCV000324079]likely benign|uncertain significance99172310491723104Human2name
11599490CV313550single nucleotide variantNM_004560.4(ROR2):c.*521G>AAutosomal recessive Robinow syndrome [RCV000265904]|Brachydactyly type B1 [RCV000360137]benign|likely benign99172314191723141Human2name
11602688CV313553single nucleotide variantNM_004560.4(ROR2):c.*180C>AAutosomal recessive Robinow syndrome [RCV000293163]|Brachydactyly type B1 [RCV000347975]uncertain significance99172348291723482Human2name
11603080CV319314single nucleotide variantNM_004560.4(ROR2):c.*245A>GAutosomal recessive Robinow syndrome [RCV000296399]|Brachydactyly type B1 [RCV000372063]|not provided [RCV002285324]benign|likely benign99172341791723417Human2name
11601258CV319358single nucleotide variantNM_004560.4(ROR2):c.-121A>CAutosomal recessive Robinow syndrome [RCV000280726]|Brachydactyly type B1 [RCV000349772]likely benign|uncertain significance99195008491950084Human2name
11608085CV319359single nucleotide variantNM_004560.4(ROR2):c.-154G>CAutosomal recessive Robinow syndrome [RCV000398130]|Brachydactyly type B1 [RCV000350680]uncertain significance99195011791950117Human2name
11605531CV319924single nucleotide variantNM_004560.4(ROR2):c.*520C>TAutosomal recessive Robinow syndrome [RCV000320989]|Brachydactyly type B1 [RCV000375734]benign|uncertain significance99172314291723142Human2name
11605129CV319958single nucleotide variantNM_004560.4(ROR2):c.-102G>TAutosomal recessive Robinow syndrome [RCV000316428]|Brachydactyly type B1 [RCV000375208]|Brachydactyly type B1 [RCV002480257]uncertain significance99195006591950065Human2name
408366285CV3500159single nucleotide variantNM_004560.4(ROR2):c.*236G>Anot provided [RCV004722202]likely benign99172342691723426Humanname
28886199CV902466single nucleotide variantNM_004560.4(ROR2):c.*571G>CAutosomal recessive Robinow syndrome [RCV001168994]|Brachydactyly type B1 [RCV001168995]uncertain significance99172309191723091Human2name
28886206CV902467single nucleotide variantNM_004560.4(ROR2):c.*553G>AAutosomal recessive Robinow syndrome [RCV001168997]|Brachydactyly type B1 [RCV001168996]uncertain significance99172310991723109Human2name
38598720CV902468single nucleotide variantNM_004560.4(ROR2):c.*433C>TAutosomal recessive Robinow syndrome [RCV001254020]|Brachydactyly type B1 [RCV001254021]uncertain significance99172322991723229Human2name
28877866CV902469single nucleotide variantNM_004560.4(ROR2):c.*398G>CAutosomal recessive Robinow syndrome [RCV001166571]|Brachydactyly type B1 [RCV001166572]uncertain significance99172326491723264Human2name
28877872CV902470single nucleotide variantNM_004560.4(ROR2):c.*369G>CAutosomal recessive Robinow syndrome [RCV001166574]|Brachydactyly type B1 [RCV001166573]uncertain significance99172329391723293Human2name
28883822CV902471single nucleotide variantNM_004560.4(ROR2):c.*125C>AAutosomal recessive Robinow syndrome [RCV001168321]|Brachydactyly type B1 [RCV001168320]uncertain significance99172353791723537Human2name
28883827CV902472single nucleotide variantNM_004560.4(ROR2):c.*107G>CAutosomal recessive Robinow syndrome [RCV001168323]|Brachydactyly type B1 [RCV001168322]uncertain significance99172355591723555Human2name
28886405CV902473single nucleotide variantNM_004560.4(ROR2):c.*106C>TAutosomal recessive Robinow syndrome [RCV001169055]|Brachydactyly type B1 [RCV001169056]benign|uncertain significance99172355691723556Human2name
28885144CV902503single nucleotide variantNM_004560.4(ROR2):c.-118C>TAutosomal recessive Robinow syndrome [RCV001168686]|Brachydactyly type B1 [RCV001168687]uncertain significance99195008191950081Human2name
127244688CV1055878single nucleotide variantNM_004560.4(ROR2):c.175+1G>ABrachydactyly type B1 [RCV002499774]|not provided [RCV001377292]likely pathogenic99177574091775740Human1name
150430117CV1231992single nucleotide variantNM_004560.4(ROR2):c.98-67A>Gnot provided [RCV001641254]benign99177588591775885Humanname
150460338CV1264159single nucleotide variantNM_004560.4(ROR2):c.97+93C>Tnot provided [RCV001682075]benign99194977491949774Humanname
151713951CV1473298single nucleotide variantNM_004560.4(ROR2):c.175+3G>TBrachydactyly type B1 [RCV002482612]|Inborn genetic diseases [RCV002552239]|not provided [RCV001889950]uncertain significance99177573891775738Human2name
152043325CV1637670single nucleotide variantNM_004560.4(ROR2):c.97+12C>Tnot provided [RCV002144789]likely benign99194985591949855Humanname
9683730CV168811single nucleotide variantNM_004560.4(ROR2):c.98-15G>CAutosomal recessive Robinow syndrome [RCV000312010]|Brachydactyly type B1 [RCV000352624]|not provided [RCV001709498]|not specified [RCV000147394]benign99177583391775833Human2name
402515316CV3178880single nucleotide variantNM_004560.4(ROR2):c.175+5G>Anot provided [RCV003879313]uncertain significance99177573691775736Humanname
11602002CV319299single nucleotide variantNM_004560.4(ROR2):c.*1016T>GAutosomal recessive Robinow syndrome [RCV000340496]|Brachydactyly type B1 [RCV000286975]|not provided [RCV004712773]benign99172264691722646Human2name
597880813CV3744863single nucleotide variantNM_004560.4(ROR2):c.622+7G>Anot provided [RCV005069888]likely benign99173738491737384Humanname
597935863CV3759486single nucleotide variantNM_004560.4(ROR2):c.463+8G>Anot provided [RCV005076606]likely benign99175726491757264Humanname
13834710CV585959single nucleotide variantNM_004560.4(ROR2):c.938-6G>Cnot provided [RCV000730296]conflicting interpretations of pathogenicity|uncertain significance99173116191731161Humanname
150331915CV1172016single nucleotide variantNM_004560.4(ROR2):c.494+24C>Tnot provided [RCV001538830]likely benign99175604791756047Humanname
150478660CV1207702single nucleotide variantNM_004560.4(ROR2):c.98-204G>Anot provided [RCV001589978]likely benign99177602291776022Humanname
150492681CV1225523single nucleotide variantNM_004560.4(ROR2):c.98-100G>Anot provided [RCV001619039]benign99177591891775918Humanname
150513979CV1227995single nucleotide variantNM_004560.4(ROR2):c.622+55C>Tnot provided [RCV001638273]benign99173733691737336Humanname
150454231CV1232234single nucleotide variantNM_004560.4(ROR2):c.98-288C>Tnot provided [RCV001648247]benign99177610691776106Humanname
150440207CV1247826single nucleotide variantNM_004560.4(ROR2):c.97+218A>Gnot provided [RCV001666193]benign99194964991949649Humanname
150482880CV1261691single nucleotide variantNM_004560.4(ROR2):c.97+200C>Anot provided [RCV001686295]benign99194966791949667Humanname
150441637CV1265589single nucleotide variantNM_004560.4(ROR2):c.623-22G>Anot provided [RCV001679293]benign99173345891733458Humanname
151356408CV1329172single nucleotide variantNM_004560.4(ROR2):c.463+10A>Gnot provided [RCV005095282]|not specified [RCV001822761]likely benign|uncertain significance99175726291757262Humanname
152111278CV1537135single nucleotide variantNM_004560.4(ROR2):c.494+17C>TBrachydactyly type B1 [RCV002494127]|not provided [RCV002215525]likely benign99175605491756054Human1name
152123270CV1546144single nucleotide variantNM_004560.4(ROR2):c.937+16C>TBrachydactyly type B1 [RCV002486901]|not provided [RCV002118118]benign99173310691733106Human1name
152081542CV1558553single nucleotide variantNM_004560.4(ROR2):c.937+11G>Anot provided [RCV002149377]likely benign99173311191733111Humanname
152031488CV1561213single nucleotide variantNM_004560.4(ROR2):c.937+19G>Anot provided [RCV002106168]likely benign99173310391733103Humanname
152132161CV1633332single nucleotide variantNM_004560.4(ROR2):c.463+11C>Anot provided [RCV002137064]likely benign99175726191757261Humanname
152081815CV1641426single nucleotide variantNM_004560.4(ROR2):c.175+17A>GBrachydactyly type B1 [RCV002498205]|not provided [RCV002211519]benign|likely benign99177572491775724Human1name
152977784CV1671143single nucleotide variantNM_004560.4(ROR2):c.1184-1G>TAutosomal recessive Robinow syndrome [RCV002226817]pathogenic99172674491726744Human1name
10048995CV195336single nucleotide variantNM_004560.4(ROR2):c.937+10C>TAutosomal recessive Robinow syndrome [RCV000293352]|Brachydactyly type B1 [RCV000385746]|Brachydactyly type B1 [RCV002500510]|not provided [RCV000971909]|not specified [RCV000179444]benign|likely benign|conflicting interpretations of pathogenicity99173311291733112Human2name
156395305CV1958871single nucleotide variantNM_004560.4(ROR2):c.623-13G>Anot provided [RCV002584307]likely benign99173344991733449Humanname
156188605CV1961477single nucleotide variantNM_004560.4(ROR2):c.937+18C>Tnot provided [RCV002574339]likely benign99173310491733104Humanname
156340216CV1961634single nucleotide variantNM_004560.4(ROR2):c.176-15C>Tnot provided [RCV002580465]likely benign99175757491757574Humanname
156230946CV1965646single nucleotide variantNM_004560.4(ROR2):c.938-17G>Anot provided [RCV002596806]likely benign99173117291731172Humanname
156348800CV1968150single nucleotide variantNM_004560.4(ROR2):c.176-10T>Gnot provided [RCV002601671]likely benign99175756991757569Humanname
156177697CV1978643single nucleotide variantNM_004560.4(ROR2):c.938-18C>Tnot provided [RCV002594967]likely benign99173117391731173Humanname
156012305CV1988250single nucleotide variantNM_004560.4(ROR2):c.175+17A>Cnot provided [RCV002618967]likely benign99177572491775724Humanname
155950521CV2046682single nucleotide variantNM_004560.4(ROR2):c.176-14G>Anot provided [RCV002775751]likely benign99175757391757573Humanname
156236087CV2145346single nucleotide variantNM_004560.4(ROR2):c.1183+9T>Cnot provided [RCV003007926]likely benign99173090191730901Humanname
11545089CV253584single nucleotide variantNM_004560.4(ROR2):c.938-33C>Tnot provided [RCV001618433]|not specified [RCV000244669]benign99173118891731188Humanname
11549088CV253585single nucleotide variantNM_004560.4(ROR2):c.494+25G>AAutosomal recessive Robinow syndrome [RCV001795453]|Brachydactyly type B1 [RCV001795452]|not provided [RCV001640532]|not specified [RCV000249961]benign99175604691756046Human2name
405160735CV3159972single nucleotide variantNM_004560.4(ROR2):c.463+17A>Gnot provided [RCV003857043]likely benign99175725591757255Humanname
404998547CV3173004single nucleotide variantNM_004560.4(ROR2):c.623-20G>Anot provided [RCV003882286]likely benign99173345691733456Humanname
11604355CV319315microsatelliteNM_004560.4(ROR2):c.*170AG[1]Autosomal dominant Robinow syndrome 1 [RCV000397410]|Brachydactyly [RCV000308467]|not provided [RCV001692081]benign99172348791723490Humanname
597716346CV3719695single nucleotide variantNM_004560.4(ROR2):c.1386+6C>TBrachydactyly type B1 [RCV005049218]uncertain significance99172653591726535Human1name
28884673CV903443single nucleotide variantNM_004560.4(ROR2):c.938-15G>AAutosomal recessive Robinow syndrome [RCV001168555]|Brachydactyly type B1 [RCV001168556]uncertain significance99173117091731170Human2name
126909901CV971530single nucleotide variantNM_004560.4(ROR2):c.623-11G>AAutosomal recessive Robinow syndrome [RCV001353129]|not provided [RCV001732097]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance99173344791733447Human1name
150428917CV1187520duplicationNM_004560.4(ROR2):c.623-286dupnot provided [RCV001562899]likely benign99173371891733719Humanname
150410195CV1190998single nucleotide variantNM_004560.4(ROR2):c.464-221A>Gnot provided [RCV001565923]likely benign99175632291756322Humanname
150458069CV1202707single nucleotide variantNM_004560.4(ROR2):c.464-142C>Tnot provided [RCV001586360]likely benign99175624391756243Humanname
150458726CV1202807single nucleotide variantNM_004560.4(ROR2):c.1183+53T>Cnot provided [RCV001586460]likely benign99173085791730857Humanname
150441425CV1204548single nucleotide variantNM_004560.4(ROR2):c.1386+25C>Tnot provided [RCV001583655]likely benign99172651691726516Humanname
150470852CV1209413single nucleotide variantNM_004560.4(ROR2):c.1386+40A>Gnot provided [RCV001588524]likely benign99172650191726501Humanname
150510442CV1211684single nucleotide variantNM_004560.4(ROR2):c.937+119C>Tnot provided [RCV001597578]benign99173300391733003Humanname
150512320CV1212966single nucleotide variantNM_004560.4(ROR2):c.495-164A>Gnot provided [RCV001598198]benign99173768291737682Humanname
150468355CV1218902single nucleotide variantNM_004560.4(ROR2):c.176-319C>Tnot provided [RCV001614654]benign99175787891757878Humanname
150493719CV1224460single nucleotide variantNM_004560.4(ROR2):c.495-165C>Tnot provided [RCV001619236]benign99173768391737683Humanname
150491867CV1225374single nucleotide variantNM_004560.4(ROR2):c.622+154G>Tnot provided [RCV001618889]benign99173723791737237Humanname
150514857CV1228653single nucleotide variantNM_004560.4(ROR2):c.463+193G>Anot provided [RCV001638641]benign99175707991757079Humanname
150501698CV1238469single nucleotide variantNM_004560.4(ROR2):c.463+206G>Cnot provided [RCV001656899]benign99175706691757066Humanname
150502143CV1241153single nucleotide variantNM_004560.4(ROR2):c.623-122C>Tnot provided [RCV001657049]benign99173355891733558Humanname
150511257CV1242657deletionNM_004560.4(ROR2):c.623-297delnot provided [RCV001661009]benign99173373391733733Humanname
150482790CV1245003single nucleotide variantNM_004560.4(ROR2):c.176-115G>Anot provided [RCV001653180]benign99175767491757674Humanname
150480612CV1258758single nucleotide variantNM_004560.4(ROR2):c.1387-70G>Anot provided [RCV001685888]benign99172517791725177Humanname
150459411CV1268339single nucleotide variantNM_004560.4(ROR2):c.937+118C>Tnot provided [RCV001693336]benign99173300491733004Humanname
151235930CV1319358duplicationNM_004560.4(ROR2):c.937+143dupnot provided [RCV001797303]likely benign99173297891732979Humanname
151864244CV1336803duplicationNM_004560.4(ROR2):c.1386+85dupnot provided [RCV002034843]likely benign99172645591726456Humanname
156443832CV1941207single nucleotide variantNM_004560.4(ROR2):c.1386+16A>Gnot provided [RCV003114741]likely benign99172652591726525Humanname
156176011CV1953132single nucleotide variantNM_004560.4(ROR2):c.1184-20G>Anot provided [RCV002573962]likely benign99172676391726763Humanname
156120735CV2039849single nucleotide variantNM_004560.4(ROR2):c.1183+20T>Gnot provided [RCV002785780]likely benign99173089091730890Humanname
156315909CV2130346single nucleotide variantNM_004560.4(ROR2):c.1386+11C>Anot provided [RCV002962900]likely benign99172653091726530Humanname
156339604CV2174736single nucleotide variantNM_004560.4(ROR2):c.1183+14C>Gnot provided [RCV003047667]likely benign99173089691730896Humanname
11545896CV253583single nucleotide variantNM_004560.4(ROR2):c.1184-39A>Tnot specified [RCV000245752]likely benign99172678291726782Humanname
402523997CV3011531single nucleotide variantNM_004560.4(ROR2):c.1184-18A>Gnot provided [RCV003716645]likely benign99172676191726761Humanname
11599139CV308888single nucleotide variantNM_004560.4(ROR2):c.1184-10T>CAutosomal recessive Robinow syndrome [RCV000359431]|Brachydactyly type B1 [RCV000263077]likely benign|uncertain significance99172675391726753Human2name
150406601CV1194265duplicationNM_004560.4(ROR2):c.1387-109dupnot provided [RCV001572063]likely benign99172521091725211Humanname
150405916CV1194266single nucleotide variantNM_004560.4(ROR2):c.1386+255C>Tnot provided [RCV001571846]likely benign99172628691726286Humanname
150498491CV1208930single nucleotide variantNM_004560.4(ROR2):c.1183+123C>Gnot provided [RCV001594147]likely benign99173078791730787Humanname
150508035CV1227037single nucleotide variantNM_004560.4(ROR2):c.1386+233T>Cnot provided [RCV001636110]benign99172630891726308Humanname
150490444CV1267614single nucleotide variantNM_004560.4(ROR2):c.1184-187G>Anot provided [RCV001687638]benign99172693091726930Humanname
597841506CV3752844microsatelliteNM_004560.4(ROR2):c.1183+10CT[4]not provided [RCV005086573]likely benign99173089191730892Humanname
126909890CV971531microsatelliteNM_004560.4(ROR2):c.494+4_494+7delAutosomal recessive Robinow syndrome [RCV001353122]likely pathogenic99175606491756067Humanname
9683729CV168812single nucleotide variantNM_004560.4(ROR2):c.75G>A (p.Leu25=)Autosomal recessive Robinow syndrome [RCV000147393]|Brachydactyly type B1 [RCV000308365]|not provided [RCV000974248]|not specified [RCV000173351]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99194988991949889Human2name
10049455CV190451single nucleotide variantNM_004560.4(ROR2):c.7C>T (p.Arg3Trp)Autosomal recessive Robinow syndrome [RCV000272869]|Brachydactyly type B1 [RCV000363075]|Brachydactyly type B1 [RCV002485118]|not provided [RCV001309610]|not specified [RCV000173350]benign|likely benign|uncertain significance99194995791949957Human2name
11643523CV270532single nucleotide variantNM_004560.4(ROR2):c.51C>A (p.Ala17=)not provided [RCV000395548]conflicting interpretations of pathogenicity|uncertain significance99194991391949913Humanname
405246452CV3048110single nucleotide variantNM_004560.4(ROR2):c.51C>T (p.Ala17=)not provided [RCV003720543]likely benign99194991391949913Humanname
597711411CV3719745single nucleotide variantNM_004560.4(ROR2):c.8G>A (p.Arg3Gln)Brachydactyly type B1 [RCV005048745]uncertain significance99194995691949956Human1name
597865478CV3767406single nucleotide variantNM_004560.4(ROR2):c.8G>T (p.Arg3Leu)not provided [RCV005106742]uncertain significance99194995691949956Humanname
126909888CV971534single nucleotide variantNM_004560.4(ROR2):c.2T>G (p.Met1Arg)Autosomal recessive Robinow syndrome [RCV001353121]pathogenic99194996291949962Human1name
126773330CV1008713single nucleotide variantNM_004560.4(ROR2):c.25C>G (p.Arg9Gly)not provided [RCV001324269]uncertain significance99194993991949939Humanname
151887359CV1471959single nucleotide variantNM_004560.4(ROR2):c.280C>A (p.Arg94=)not provided [RCV002000866]likely benign|uncertain significance99175745591757455Humanname
152102939CV1579129single nucleotide variantNM_004560.4(ROR2):c.258A>G (p.Ala86=)not provided [RCV002079225]likely benign99175747791757477Humanname
152168912CV1598308single nucleotide variantNM_004560.4(ROR2):c.159G>A (p.Pro53=)not provided [RCV002142610]likely benign99177575791775757Humanname
152091308CV1616165single nucleotide variantNM_004560.4(ROR2):c.123C>T (p.Asn41=)not provided [RCV002114112]likely benign99177579391775793Humanname
11642180CV265910single nucleotide variantNM_004560.4(ROR2):c.174A>G (p.Lys58=)Brachydactyly type B1 [RCV005049511]|not provided [RCV000370250]uncertain significance99177574291775742Human1name
405183437CV2920239single nucleotide variantNM_004560.4(ROR2):c.162T>A (p.Ile54=)not provided [RCV003564215]likely benign99177575491775754Humanname
11601513CV308893single nucleotide variantNM_004560.4(ROR2):c.276C>T (p.Asn92=)Autosomal recessive Robinow syndrome [RCV000282689]|Brachydactyly type B1 [RCV000372574]|not provided [RCV000961953]benign99175745991757459Human2name
11606938CV319956single nucleotide variantNM_004560.4(ROR2):c.153C>T (p.Asp51=)Autosomal recessive Robinow syndrome [RCV000337763]|Brachydactyly type B1 [RCV000395571]|ROR2-related disorder [RCV004544718]|not provided [RCV000899530]likely benign|uncertain significance99177576391775763Human2name , trait , alternate_id
597940814CV3757286single nucleotide variantNM_004560.4(ROR2):c.219T>C (p.Ile73=)not provided [RCV005077472]likely benign99175751691757516Humanname
597920913CV3852081single nucleotide variantNM_004560.4(ROR2):c.291G>A (p.Lys97=)not provided [RCV005205061]likely benign99175744491757444Humanname
13523751CV493857single nucleotide variantNM_004560.4(ROR2):c.234G>A (p.Thr78=)not provided [RCV000593398]conflicting interpretations of pathogenicity|uncertain significance99175750191757501Humanname
15155246CV712063single nucleotide variantNM_004560.4(ROR2):c.255G>A (p.Val85=)not provided [RCV000968889]likely benign99175748091757480Humanname
127232309CV1076709single nucleotide variantNM_004560.4(ROR2):c.381G>A (p.Thr127=)not provided [RCV001395634]likely benign99175735491757354Humanname
127276017CV1098354single nucleotide variantNM_004560.4(ROR2):c.921C>T (p.Ala307=)not provided [RCV001432600]likely benign99173313891733138Humanname
151790130CV1397209single nucleotide variantNM_004560.4(ROR2):c.768C>T (p.Cys256=)Brachydactyly type B1 [RCV002484529]|not provided [RCV001951967]likely benign|uncertain significance99173329191733291Human1name
151848216CV1441780single nucleotide variantNM_004560.4(ROR2):c.660G>A (p.Ser220=)not provided [RCV001995616]likely benign|uncertain significance99173339991733399Humanname
151778875CV1472286single nucleotide variantNM_004560.4(ROR2):c.888C>T (p.Asp296=)Brachydactyly type B1 [RCV002498048]|ROR2-related disorder [RCV004543684]|not provided [RCV002026068]likely benign99173317191733171Human2name , trait , alternate_id
151892298CV1480824single nucleotide variantNM_004560.4(ROR2):c.95C>A (p.Ser32Ter)not provided [RCV001943968]pathogenic99194986991949869Humanname
152109581CV1530109single nucleotide variantNM_004560.4(ROR2):c.501T>C (p.Asp167=)not provided [RCV002196590]likely benign99173751291737512Humanname
152082856CV1565115single nucleotide variantNM_004560.4(ROR2):c.654C>T (p.His218=)not provided [RCV002093082]likely benign99173340591733405Humanname
152076716CV1565987single nucleotide variantNM_004560.4(ROR2):c.720C>T (p.Asp240=)not provided [RCV002075832]likely benign99173333991733339Humanname
152033740CV1573010single nucleotide variantNM_004560.4(ROR2):c.954C>T (p.Asn318=)Brachydactyly type B1 [RCV002494063]|not provided [RCV002187143]likely benign99173113991731139Human1name
152147596CV1618725single nucleotide variantNM_004560.4(ROR2):c.489C>T (p.Asn163=)not provided [RCV002121290]likely benign99175607691756076Humanname
9683727CV168810single nucleotide variantNM_004560.4(ROR2):c.498T>C (p.Asp166=)Autosomal recessive Robinow syndrome [RCV000270797]|Brachydactyly type B1 [RCV000381562]|not provided [RCV001509912]|not specified [RCV000147391]benign99173751591737515Human2name
156369229CV1905046single nucleotide variantNM_004560.4(ROR2):c.474C>T (p.His158=)not provided [RCV002582298]likely benign99175609191756091Humanname
10051533CV193554single nucleotide variantNM_004560.4(ROR2):c.372C>T (p.Asp124=)Autosomal recessive Robinow syndrome [RCV000286337]|Brachydactyly type B1 [RCV000341308]|Brachydactyly type B1 [RCV002485156]|not provided [RCV000969995]|not specified [RCV000246827]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99175736391757363Human2name
156437036CV1936864single nucleotide variantNM_004560.4(ROR2):c.729C>G (p.Ser243=)not provided [RCV003106564]likely benign99173333091733330Humanname
156446040CV1951067single nucleotide variantNM_004560.4(ROR2):c.750G>A (p.Glu250=)not provided [RCV003117003]likely benign99173330991733309Humanname
156117766CV1952478single nucleotide variantNM_004560.4(ROR2):c.405C>T (p.Cys135=)not provided [RCV002571741]likely benign99175733091757330Humanname
156128466CV1966099single nucleotide variantNM_004560.4(ROR2):c.444C>T (p.Gly148=)not provided [RCV002593403]likely benign99175729191757291Humanname
156285156CV2134086single nucleotide variantNM_004560.4(ROR2):c.426G>A (p.Lys142=)not provided [RCV003009741]likely benign99175730991757309Humanname
401745404CV2681258single nucleotide variantNM_004560.4(ROR2):c.47C>G (p.Pro16Arg)Brachydactyly type B1 [RCV005047495]|Inborn genetic diseases [RCV003252364]uncertain significance99194991791949917Human2name
11638080CV271191single nucleotide variantNM_004560.4(ROR2):c.822C>T (p.Asn274=)not provided [RCV000297018]conflicting interpretations of pathogenicity|uncertain significance99173323791733237Humanname
11580348CV274924single nucleotide variantNM_004560.4(ROR2):c.678C>T (p.Phe226=)Autosomal recessive Robinow syndrome [RCV000368671]|Brachydactyly type B1 [RCV000330462]|not provided [RCV000331211]likely benign|uncertain significance99173338191733381Human2name
402471692CV2912002single nucleotide variantNM_004560.4(ROR2):c.645G>A (p.Thr215=)not provided [RCV003570633]likely benign99173341491733414Humanname
405117314CV2949579single nucleotide variantNM_004560.4(ROR2):c.712C>T (p.Leu238=)not provided [RCV003667060]likely benign99173334791733347Humanname
402495707CV2978536single nucleotide variantNM_004560.4(ROR2):c.906C>T (p.Arg302=)not provided [RCV003714140]likely benign99173315391733153Humanname
404978765CV3013130single nucleotide variantNM_004560.4(ROR2):c.810C>T (p.Ile270=)not provided [RCV003690849]likely benign99173324991733249Humanname
405242044CV3078588single nucleotide variantNM_004560.4(ROR2):c.414C>T (p.Thr138=)not provided [RCV003737489]likely benign99175732191757321Humanname
11600903CV308892single nucleotide variantNM_004560.4(ROR2):c.702C>T (p.Phe234=)Autosomal recessive Robinow syndrome [RCV000369670]|Brachydactyly type B1 [RCV000277682]|not provided [RCV002058821]likely benign|uncertain significance99173335791733357Human2name
405122070CV3126220single nucleotide variantNM_004560.4(ROR2):c.984A>G (p.Ala328=)not provided [RCV003814972]likely benign99173110991731109Humanname
11602118CV313566single nucleotide variantNM_004560.4(ROR2):c.864G>A (p.Ala288=)Autosomal recessive Robinow syndrome [RCV000287985]|Brachydactyly type B1 [RCV000345180]|not provided [RCV000900090]likely benign|uncertain significance99173319591733195Human2name
405055605CV3138580single nucleotide variantNM_004560.4(ROR2):c.672A>G (p.Ser224=)not provided [RCV003832425]likely benign99173338791733387Humanname
405166810CV3153648single nucleotide variantNM_004560.4(ROR2):c.88C>G (p.Arg30Gly)not provided [RCV003841193]uncertain significance99194987691949876Humanname
405093834CV3164180duplicationNM_004560.4(ROR2):c.139dup (p.Leu47fs)not provided [RCV003852495]pathogenic99177577691775777Humanname
402471507CV3171579single nucleotide variantNM_004560.4(ROR2):c.82G>A (p.Val28Met)not provided [RCV003874363]uncertain significance99194988291949882Humanname
402508343CV3181688single nucleotide variantNM_004560.4(ROR2):c.417C>T (p.Asn139=)not provided [RCV003878522]likely benign99175731891757318Humanname
11601919CV319350single nucleotide variantNM_004560.4(ROR2):c.751C>T (p.Leu251=)Autosomal recessive Robinow syndrome [RCV000286613]|Brachydactyly type B1 [RCV000403944]|Brachydactyly type B1 [RCV005044602]|ROR2-related disorder [RCV004530493]|not provided [RCV000933747]benign|likely benign99173330891733308Human2name , trait , alternate_id
11607098CV319351single nucleotide variantNM_004560.4(ROR2):c.744G>A (p.Pro248=)Autosomal recessive Robinow syndrome [RCV000397233]|Brachydactyly type B1 [RCV000339264]|ROR2-related disorder [RCV004530494]|not provided [RCV002058820]benign|likely benign99173331591733315Human2name , trait , alternate_id
11603280CV319353single nucleotide variantNM_004560.4(ROR2):c.717C>T (p.Cys239=)Autosomal recessive Robinow syndrome [RCV000401720]|Brachydactyly type B1 [RCV000298671]|Brachydactyly type B1 [RCV002504195]|not provided [RCV000881890]benign|likely benign99173334291733342Human2name
11605791CV319939single nucleotide variantNM_004560.4(ROR2):c.471G>A (p.Thr157=)Autosomal recessive Robinow syndrome [RCV000380521]|Brachydactyly type B1 [RCV000323552]|Brachydactyly type B1 [RCV002504196]|not provided [RCV000906005]benign|likely benign99175609491756094Human2name
405291729CV3206066single nucleotide variantNM_004560.4(ROR2):c.762C>T (p.Asp254=)ROR2-related disorder [RCV004545691]likely benign99173329791733297Humanname , trait , alternate_id
597711375CV3719741single nucleotide variantNM_004560.4(ROR2):c.92C>T (p.Thr31Ile)Brachydactyly type B1 [RCV005048741]uncertain significance99194987291949872Human1name
597711383CV3719742single nucleotide variantNM_004560.4(ROR2):c.86C>T (p.Ser29Phe)Brachydactyly type B1 [RCV005048742]uncertain significance99194987891949878Human1name
597711393CV3719743single nucleotide variantNM_004560.4(ROR2):c.46C>A (p.Pro16Thr)Brachydactyly type B1 [RCV005048743]uncertain significance99194991891949918Human1name
597711403CV3719744single nucleotide variantNM_004560.4(ROR2):c.41G>A (p.Cys14Tyr)Brachydactyly type B1 [RCV005048744]uncertain significance99194992391949923Human1name
597865470CV3767405single nucleotide variantNM_004560.4(ROR2):c.29G>A (p.Arg10Gln)not provided [RCV005106741]uncertain significance99194993591949935Humanname
597941426CV3769183single nucleotide variantNM_004560.4(ROR2):c.723G>A (p.Ala241=)not provided [RCV005118678]likely benign99173333691733336Humanname
597973715CV3820564single nucleotide variantNM_004560.4(ROR2):c.600G>A (p.Gly200=)not provided [RCV005168081]likely benign99173741391737413Humanname
597857852CV3822326single nucleotide variantNM_004560.4(ROR2):c.639C>T (p.Ile213=)not provided [RCV005174624]likely benign99173342091733420Humanname
597877396CV3825782single nucleotide variantNM_004560.4(ROR2):c.585G>A (p.Ser195=)not provided [RCV005177656]likely benign99173742891737428Humanname
597964822CV3848045single nucleotide variantNM_004560.4(ROR2):c.624G>A (p.Ala208=)not provided [RCV005193924]likely benign99173343591733435Humanname
597903945CV3856276single nucleotide variantNM_004560.4(ROR2):c.885C>T (p.Pro295=)not provided [RCV005202504]likely benign99173317491733174Humanname
13834511CV585759single nucleotide variantNM_004560.4(ROR2):c.37C>G (p.Leu13Val)Brachydactyly type B1 [RCV002493319]|Inborn genetic diseases [RCV005268740]|ROR2-related disorder [RCV004540048]|not provided [RCV000730048]uncertain significance99194992791949927Human3name , trait , alternate_id
15104371CV751815single nucleotide variantNM_004560.4(ROR2):c.981G>C (p.Thr327=)not provided [RCV000915338]likely benign99173111291731112Humanname
15099569CV751816single nucleotide variantNM_004560.4(ROR2):c.828C>T (p.Leu276=)not provided [RCV000914475]likely benign99173323191733231Humanname
15165667CV751817single nucleotide variantNM_004560.4(ROR2):c.825G>A (p.Pro275=)not provided [RCV000926683]likely benign99173323491733234Humanname
15198229CV751818single nucleotide variantNM_004560.4(ROR2):c.792C>T (p.Cys264=)not provided [RCV000912198]likely benign99173326791733267Humanname
15197522CV751819single nucleotide variantNM_004560.4(ROR2):c.777G>T (p.Leu259=)Brachydactyly type B1 [RCV005047147]|not provided [RCV000911996]likely benign|uncertain significance99173328291733282Human1name
15112857CV767506single nucleotide variantNM_004560.4(ROR2):c.525G>A (p.Gln175=)Brachydactyly type B1 [RCV002489257]|not provided [RCV000939020]likely benign99173748891737488Human1name
15175305CV767507single nucleotide variantNM_004560.4(ROR2):c.306G>A (p.Val102=)not provided [RCV000928643]likely benign99175742991757429Humanname
15100539CV783480single nucleotide variantNM_004560.4(ROR2):c.435C>T (p.Thr145=)ROR2-related disorder [RCV004535984]|not provided [RCV000975426]likely benign99175730091757300Human1name , trait , alternate_id
126765075CV1008712single nucleotide variantNM_004560.4(ROR2):c.256G>T (p.Ala86Ser)Brachydactyly type B1 [RCV005040175]|not provided [RCV001319906]uncertain significance99175747991757479Human1name
127277160CV1076708single nucleotide variantNM_004560.4(ROR2):c.1137G>A (p.Thr379=)ROR2-related disorder [RCV004531240]|not provided [RCV001407598]likely benign99173095691730956Human1name , trait , alternate_id
127295338CV1119943single nucleotide variantNM_004560.4(ROR2):c.2460C>T (p.Pro820=)not provided [RCV001477072]likely benign99172403491724034Humanname
127312111CV1119944single nucleotide variantNM_004560.4(ROR2):c.1605C>T (p.Asn535=)Brachydactyly type B1 [RCV002506538]|not provided [RCV001464294]likely benign99172488991724889Human1name
127303487CV1140771single nucleotide variantNM_004560.4(ROR2):c.1104C>T (p.Pro368=)Brachydactyly type B1 [RCV002476789]|not provided [RCV001479257]likely benign99173098991730989Human1name
151801435CV1338023single nucleotide variantNM_004560.4(ROR2):c.2415G>A (p.Lys805=)not provided [RCV001932347]likely benign|uncertain significance99172407991724079Humanname
151770026CV1442145single nucleotide variantNM_004560.4(ROR2):c.281G>A (p.Arg94Gln)Brachydactyly type B1 [RCV002486515]|not provided [RCV002025267]uncertain significance99175745491757454Human1name
151786970CV1504599single nucleotide variantNM_004560.4(ROR2):c.2442G>A (p.Pro814=)Brachydactyly type B1 [RCV002497894]|not provided [RCV001951650]likely benign99172405291724052Human1name
152144890CV1543197single nucleotide variantNM_004560.4(ROR2):c.1872C>T (p.Tyr624=)not provided [RCV002178571]likely benign99172462291724622Humanname
152150266CV1545542single nucleotide variantNM_004560.4(ROR2):c.2358C>T (p.Tyr786=)not provided [RCV002121641]likely benign99172413691724136Humanname
152164380CV1557592single nucleotide variantNM_004560.4(ROR2):c.2346C>T (p.Ser782=)not provided [RCV002141509]likely benign99172414891724148Humanname
152045365CV1588780single nucleotide variantNM_004560.4(ROR2):c.2094C>T (p.Asn698=)not provided [RCV002188773]likely benign99172440091724400Humanname
152073709CV1599035single nucleotide variantNM_004560.4(ROR2):c.2022C>T (p.Asp674=)not provided [RCV002148428]likely benign99172447291724472Humanname
152062966CV1612001single nucleotide variantNM_004560.4(ROR2):c.2478G>A (p.Pro826=)Brachydactyly type B1 [RCV002500251]|not provided [RCV002128571]likely benign99172401691724016Human1name
152081968CV1612343single nucleotide variantNM_004560.4(ROR2):c.2388C>T (p.Phe796=)not provided [RCV002130935]likely benign99172410691724106Humanname
152062900CV1612520single nucleotide variantNM_004560.4(ROR2):c.1317G>T (p.Pro439=)not provided [RCV002168225]likely benign99172661091726610Humanname
152077814CV1613026single nucleotide variantNM_004560.4(ROR2):c.1548C>T (p.Pro516=)not provided [RCV002075971]likely benign99172494691724946Humanname
152108929CV1614006single nucleotide variantNM_004560.4(ROR2):c.1800G>A (p.Ala600=)not provided [RCV002174079]likely benign99172469491724694Humanname
152153752CV1626226single nucleotide variantNM_004560.4(ROR2):c.1998C>T (p.Tyr666=)Brachydactyly type B1 [RCV002500272]|not provided [RCV002139899]likely benign99172449691724496Human1name
152048516CV1627563single nucleotide variantNM_004560.4(ROR2):c.1549C>T (p.Leu517=)not provided [RCV002108643]likely benign99172494591724945Humanname
152147879CV1647402single nucleotide variantNM_004560.4(ROR2):c.1992C>T (p.Ile664=)not provided [RCV002201507]likely benign99172450291724502Humanname
152046597CV1656364single nucleotide variantNM_004560.4(ROR2):c.2604C>T (p.Ser868=)Brachydactyly type B1 [RCV002499987]|not provided [RCV002126714]likely benign99172389091723890Human1name
152150761CV1661648single nucleotide variantNM_004560.4(ROR2):c.2724C>T (p.Thr908=)Brachydactyly type B1 [RCV002494038]|not provided [RCV002179412]likely benign99172377091723770Human1name
152122761CV1664264single nucleotide variantNM_004560.4(ROR2):c.1323G>A (p.Arg441=)ROR2-related disorder [RCV004531515]|not provided [RCV002154471]likely benign99172660491726604Human1name , trait , alternate_id
152026005CV1666154single nucleotide variantNM_004560.4(ROR2):c.1942C>T (p.Leu648=)not provided [RCV002084655]likely benign99172455291724552Humanname
9683723CV168801single nucleotide variantNM_004560.4(ROR2):c.2154C>T (p.Pro718=)Autosomal recessive Robinow syndrome [RCV000327784]|Brachydactyly type B1 [RCV000384620]|not provided [RCV001514499]|not specified [RCV000147387]benign99172434091724340Human2name
9683722CV168802single nucleotide variantNM_004560.4(ROR2):c.2088C>T (p.Tyr696=)Autosomal recessive Robinow syndrome [RCV000269125]|Brachydactyly type B1 [RCV000326426]|not provided [RCV001522559]|not specified [RCV000147386]benign99172440691724406Human2name
9683719CV168805single nucleotide variantNM_004560.4(ROR2):c.1959G>A (p.Leu653=)Autosomal recessive Robinow syndrome [RCV000147383]|Brachydactyly type B1 [RCV000374484]|not provided [RCV000886960]benign|likely benign|uncertain significance99172453591724535Human2name
9683718CV168806single nucleotide variantNM_004560.4(ROR2):c.1710G>A (p.Pro570=)Autosomal recessive Robinow syndrome [RCV000273070]|Brachydactyly type B1 [RCV000307221]|not provided [RCV001515731]|not specified [RCV000147382]benign|likely benign99172478491724784Human2name
156004205CV1869698single nucleotide variantNM_004560.4(ROR2):c.154G>A (p.Gly52Ser)Brachydactyly type B1 [RCV005045217]|Inborn genetic diseases [RCV004070301]|not provided [RCV003076738]likely benign|uncertain significance99177576291775762Human2name
156377438CV1906613single nucleotide variantNM_004560.4(ROR2):c.1162C>T (p.Leu388=)not provided [RCV003092988]likely benign99173093191730931Humanname
155958698CV1911930single nucleotide variantNM_004560.4(ROR2):c.2193G>A (p.Glu731=)not provided [RCV002616623]likely benign99172430191724301Humanname
156271847CV1915367single nucleotide variantNM_004560.4(ROR2):c.1140G>A (p.Gln380=)not provided [RCV002628123]likely benign99173095391730953Humanname
156414187CV1915797single nucleotide variantNM_004560.4(ROR2):c.1047C>T (p.His349=)not provided [RCV002588461]likely benign99173104691731046Humanname
156436930CV1936752single nucleotide variantNM_004560.4(ROR2):c.2142C>T (p.Pro714=)not provided [RCV003106455]likely benign99172435291724352Humanname
156439196CV1944060single nucleotide variantNM_004560.4(ROR2):c.1170C>T (p.Asp390=)not provided [RCV003109152]likely benign99173092391730923Humanname
156447474CV1945429single nucleotide variantNM_004560.4(ROR2):c.2199C>A (p.Pro733=)not provided [RCV003119002]likely benign99172429591724295Humanname
156438783CV1947402single nucleotide variantNM_004560.4(ROR2):c.2166T>C (p.Tyr722=)not provided [RCV003108730]likely benign99172432891724328Humanname
156445971CV1950995single nucleotide variantNM_004560.4(ROR2):c.1524G>T (p.Thr508=)not provided [RCV003116934]likely benign99172497091724970Humanname
10053226CV195972single nucleotide variantNM_004560.4(ROR2):c.1251C>T (p.Val417=)not provided [RCV000180264]uncertain significance99172667691726676Humanname
156409855CV1961983single nucleotide variantNM_004560.4(ROR2):c.231G>C (p.Gln77His)not provided [RCV002586959]uncertain significance99175750491757504Humanname
156410051CV1962090single nucleotide variantNM_004560.4(ROR2):c.1086C>T (p.His362=)not provided [RCV002587030]likely benign99173100791731007Humanname
155902332CV1975729single nucleotide variantNM_004560.4(ROR2):c.1677C>G (p.Gly559=)not provided [RCV002613463]likely benign99172481791724817Humanname
156220801CV1981284single nucleotide variantNM_004560.4(ROR2):c.280C>T (p.Arg94Trp)not provided [RCV002626439]uncertain significance99175745591757455Humanname
156055753CV2003362single nucleotide variantNM_004560.4(ROR2):c.2709T>C (p.Asp903=)not provided [RCV002659515]likely benign99172378591723785Humanname
156061809CV2008294single nucleotide variantNM_004560.4(ROR2):c.2217C>T (p.Phe739=)not provided [RCV002705412]likely benign99172427791724277Humanname
156014023CV2009027single nucleotide variantNM_004560.4(ROR2):c.137C>A (p.Pro46His)not provided [RCV002690669]uncertain significance99177577991775779Humanname
156077861CV2011869single nucleotide variantNM_004560.4(ROR2):c.1797C>T (p.Ile599=)not provided [RCV002705891]likely benign99172469791724697Humanname
155931270CV2035073single nucleotide variantNM_004560.4(ROR2):c.1092C>T (p.Tyr364=)not provided [RCV002751172]likely benign99173100191731001Humanname
156258834CV2037577single nucleotide variantNM_004560.4(ROR2):c.1179G>A (p.Ser393=)not provided [RCV002806256]likely benign99173091491730914Humanname
155950636CV2046690single nucleotide variantNM_004560.4(ROR2):c.2070G>A (p.Leu690=)not provided [RCV002775757]likely benign99172442491724424Humanname
156026657CV2055863single nucleotide variantNM_004560.4(ROR2):c.2169C>T (p.Ala723=)not provided [RCV002820877]likely benign99172432591724325Humanname
156041526CV2089668single nucleotide variantNM_004560.4(ROR2):c.1143T>C (p.Asn381=)not provided [RCV002867459]likely benign99173095091730950Humanname
156118904CV2107453single nucleotide variantNM_004560.4(ROR2):c.1851C>T (p.Ala617=)not provided [RCV002914080]likely benign99172464391724643Humanname
156130003CV2114785single nucleotide variantNM_004560.4(ROR2):c.1272G>A (p.Leu424=)not provided [RCV002914515]uncertain significance99172665591726655Humanname
156235847CV2118410single nucleotide variantNM_004560.4(ROR2):c.2064C>T (p.Tyr688=)not provided [RCV002958685]benign99172443091724430Humanname
156221411CV2124382single nucleotide variantNM_004560.4(ROR2):c.2304G>A (p.Thr768=)ROR2-related disorder [RCV004536473]|not provided [RCV002958156]likely benign99172419091724190Human1name , trait , alternate_id
155946054CV2139449single nucleotide variantNM_004560.4(ROR2):c.2484G>A (p.Pro828=)not provided [RCV002994348]likely benign99172401091724010Humanname
156308817CV2163851single nucleotide variantNM_004560.4(ROR2):c.140T>A (p.Leu47His)not provided [RCV003045915]uncertain significance99177577691775776Humanname
155916072CV2281888single nucleotide variantNM_004560.4(ROR2):c.233C>A (p.Thr78Lys)Inborn genetic diseases [RCV002858979]uncertain significance99175750291757502Human1name
156391042CV2385050single nucleotide variantNM_004560.4(ROR2):c.211A>G (p.Ile71Val)Inborn genetic diseases [RCV002724751]uncertain significance99175752491757524Human1name
11551872CV253582single nucleotide variantNM_004560.4(ROR2):c.1770C>T (p.Pro590=)not provided [RCV002058167]|not specified [RCV000253617]likely benign99172472491724724Humanname
11577762CV265732single nucleotide variantNM_004560.4(ROR2):c.1686C>T (p.His562=)Autosomal recessive Robinow syndrome [RCV000267312]|Brachydactyly type B1 [RCV000364214]|ROR2-related disorder [RCV004535258]|not provided [RCV000953607]|not specified [RCV000354763]benign99172480891724808Human2name , trait , alternate_id
11643169CV268635single nucleotide variantNM_004560.4(ROR2):c.233C>T (p.Thr78Met)not provided [RCV000388915]uncertain significance99175750291757502Humanname
11640111CV269094single nucleotide variantNM_004560.4(ROR2):c.1671G>A (p.Ser557=)not provided [RCV000332851]conflicting interpretations of pathogenicity|uncertain significance99172482391724823Humanname
11577491CV271928single nucleotide variantNM_004560.4(ROR2):c.2727G>A (p.Val909=)Autosomal recessive Robinow syndrome [RCV000353928]|Brachydactyly type B1 [RCV000261324]|not provided [RCV000961951]|not specified [RCV000264658]benign|likely benign99172376791723767Human2name
11641710CV273458single nucleotide variantNM_004560.4(ROR2):c.2445G>A (p.Pro815=)ROR2-related disorder [RCV004535425]|not provided [RCV000361595]likely benign|conflicting interpretations of pathogenicity|uncertain significance99172404991724049Human1name , trait , alternate_id
11578927CV273667single nucleotide variantNM_004560.4(ROR2):c.2466C>T (p.Asn822=)Autosomal recessive Robinow syndrome [RCV000291795]|Brachydactyly type B1 [RCV000383743]|not provided [RCV000907683]|not specified [RCV000266094]benign|likely benign99172402891724028Human2name
405071186CV2876545single nucleotide variantNM_004560.4(ROR2):c.1800G>C (p.Ala600=)not provided [RCV003548542]likely benign99172469491724694Humanname
405221518CV2884318single nucleotide variantNM_004560.4(ROR2):c.2233C>A (p.Arg745=)not provided [RCV003553841]likely benign99172426191724261Humanname
405175375CV2915559single nucleotide variantNM_004560.4(ROR2):c.2460C>G (p.Pro820=)not provided [RCV003563490]likely benign99172403491724034Humanname
405201206CV2918599single nucleotide variantNM_004560.4(ROR2):c.2067C>T (p.Gly689=)not provided [RCV003565963]likely benign99172442791724427Humanname
402488798CV2941534single nucleotide variantNM_004560.4(ROR2):c.1887G>A (p.Val629=)not provided [RCV003660272]likely benign99172460791724607Humanname
402493158CV2945948single nucleotide variantNM_004560.4(ROR2):c.277G>A (p.Val93Met)not provided [RCV003660749]uncertain significance99175745891757458Humanname
405117105CV2953430single nucleotide variantNM_004560.4(ROR2):c.2223C>T (p.Asp741=)not provided [RCV003667039]likely benign99172427191724271Humanname
405159891CV2955063single nucleotide variantNM_004560.4(ROR2):c.1321C>A (p.Arg441=)not provided [RCV003670651]likely benign99172660691726606Humanname
405152037CV2959784single nucleotide variantNM_004560.4(ROR2):c.219T>G (p.Ile73Met)not provided [RCV003674017]uncertain significance99175751691757516Humanname
405213907CV2971389single nucleotide variantNM_004560.4(ROR2):c.1368C>T (p.Leu456=)not provided [RCV003679765]likely benign99172655991726559Humanname
405023714CV3002918single nucleotide variantNM_004560.4(ROR2):c.2430C>G (p.Pro810=)not provided [RCV003695047]likely benign99172406491724064Humanname
405227143CV3039581single nucleotide variantNM_004560.4(ROR2):c.145G>T (p.Gly49Trp)not provided [RCV003710900]uncertain significance99177577191775771Humanname
405243109CV3043929single nucleotide variantNM_004560.4(ROR2):c.1896A>G (p.Ser632=)not provided [RCV003719657]likely benign99172459891724598Humanname
405126152CV3053456single nucleotide variantNM_004560.4(ROR2):c.119C>T (p.Pro40Leu)not provided [RCV003724391]uncertain significance99177579791775797Humanname
405216639CV3055689single nucleotide variantNM_004560.4(ROR2):c.2229C>T (p.His743=)not provided [RCV003732740]likely benign99172426591724265Humanname
405199363CV3056626single nucleotide variantNM_004560.4(ROR2):c.2544G>A (p.Pro848=)not provided [RCV003730603]likely benign99172395091723950Humanname
405157049CV3065049single nucleotide variantNM_004560.4(ROR2):c.1341G>A (p.Ser447=)not provided [RCV003726832]likely benign99172658691726586Humanname
405214483CV3066451single nucleotide variantNM_004560.4(ROR2):c.2517G>A (p.Pro839=)not provided [RCV003732453]likely benign99172397791723977Humanname
405204770CV3068010single nucleotide variantNM_004560.4(ROR2):c.1803G>A (p.Ala601=)not provided [RCV003731193]likely benign99172469191724691Humanname
405242054CV3078592single nucleotide variantNM_004560.4(ROR2):c.1731C>T (p.Thr577=)not provided [RCV003737491]likely benign99172476391724763Humanname
11600568CV308873single nucleotide variantNM_004560.4(ROR2):c.2190C>T (p.Asn730=)Autosomal recessive Robinow syndrome [RCV000275056]|Brachydactyly type B1 [RCV000367313]|not provided [RCV002058817]benign|likely benign|uncertain significance99172430491724304Human2name
11603094CV308874single nucleotide variantNM_004560.4(ROR2):c.1491G>A (p.Pro497=)Autosomal recessive Robinow syndrome [RCV000349239]|Brachydactyly type B1 [RCV000296550]|ROR2-related disorder [RCV004530492]|not provided [RCV000903900]benign|likely benign|uncertain significance99172500391725003Human2name , trait , alternate_id
405068907CV3140189single nucleotide variantNM_004560.4(ROR2):c.2076C>G (p.Pro692=)not provided [RCV003833344]likely benign99172441891724418Humanname
405059051CV3147903single nucleotide variantNM_004560.4(ROR2):c.1716G>C (p.Ser572=)not provided [RCV003850133]likely benign99172477891724778Humanname
405189710CV3149587single nucleotide variantNM_004560.4(ROR2):c.2106G>A (p.Val702=)not provided [RCV003843313]likely benign99172438891724388Humanname
405170444CV3150006single nucleotide variantNM_004560.4(ROR2):c.2013C>T (p.Ile671=)not provided [RCV003841477]likely benign99172448191724481Humanname
402472313CV3171759single nucleotide variantNM_004560.4(ROR2):c.2556T>G (p.Pro852=)not provided [RCV003874543]likely benign99172393891723938Humanname
402503663CV3181395single nucleotide variantNM_004560.4(ROR2):c.1539G>A (p.Ala513=)not provided [RCV003878229]likely benign99172495591724955Humanname
11607832CV319346single nucleotide variantNM_004560.4(ROR2):c.1416G>A (p.Ala472=)Autosomal recessive Robinow syndrome [RCV000347862]|Brachydactyly type B1 [RCV000397540]|not provided [RCV001464193]likely benign|uncertain significance99172507891725078Human2name
11603171CV319932single nucleotide variantNM_004560.4(ROR2):c.2277G>A (p.Ala759=)Autosomal recessive Robinow syndrome [RCV000354523]|Brachydactyly type B1 [RCV000297240]|not provided [RCV003766112]benign|likely benign|uncertain significance99172421791724217Human2name
405294160CV3214643single nucleotide variantNM_004560.4(ROR2):c.1674C>T (p.His558=)ROR2-related disorder [RCV004532167]likely benign99172482091724820Humanname , trait , alternate_id
405718792CV3309790single nucleotide variantNM_004560.4(ROR2):c.224A>G (p.Gln75Arg)Inborn genetic diseases [RCV004449538]uncertain significance99175751191757511Human1name
408368460CV3512407single nucleotide variantNM_004560.4(ROR2):c.1902G>A (p.Leu634=)ROR2-related disorder [RCV004735204]likely benign99172459291724592Humanname , trait , alternate_id
597719104CV3586948single nucleotide variantNM_004560.4(ROR2):c.1929C>T (p.Ala643=)Inborn genetic diseases [RCV004960275]likely benign99172456591724565Human1name
597710945CV3719678single nucleotide variantNM_004560.4(ROR2):c.1950G>T (p.Gly650=)Brachydactyly type B1 [RCV005048693]uncertain significance99172454491724544Human1name
597716310CV3719684single nucleotide variantNM_004560.4(ROR2):c.1842G>A (p.Lys614=)Brachydactyly type B1 [RCV005049214]uncertain significance99172465291724652Human1name
597711083CV3719702single nucleotide variantNM_004560.4(ROR2):c.1200C>T (p.Ser400=)Brachydactyly type B1 [RCV005048708]uncertain significance99172672791726727Human1name
597711128CV3719708single nucleotide variantNM_004560.4(ROR2):c.1104C>A (p.Pro368=)Brachydactyly type B1 [RCV005048713]uncertain significance99173098991730989Human1name
597711341CV3719738single nucleotide variantNM_004560.4(ROR2):c.268C>T (p.Pro90Ser)Brachydactyly type B1 [RCV005048737]uncertain significance99175746791757467Human1name
597711357CV3719739single nucleotide variantNM_004560.4(ROR2):c.140T>G (p.Leu47Arg)Brachydactyly type B1 [RCV005048739]uncertain significance99177577691775776Human1name
597711367CV3719740single nucleotide variantNM_004560.4(ROR2):c.124G>T (p.Asp42Tyr)Brachydactyly type B1 [RCV005048740]uncertain significance99177579291775792Human1name
597845081CV3736238single nucleotide variantNM_004560.4(ROR2):c.1608C>T (p.Val536=)not provided [RCV005065586]likely benign99172488691724886Humanname
597846689CV3746229single nucleotide variantNM_004560.4(ROR2):c.1479C>T (p.Phe493=)not provided [RCV005060046]likely benign99172501591725015Humanname
597844620CV3752639single nucleotide variantNM_004560.4(ROR2):c.2619C>T (p.Tyr873=)not provided [RCV005087045]likely benign99172387591723875Humanname
597949314CV3772322single nucleotide variantNM_004560.4(ROR2):c.1761G>A (p.Leu587=)not provided [RCV005120641]likely benign99172473391724733Humanname
597898829CV3807003single nucleotide variantNM_004560.4(ROR2):c.179A>G (p.Tyr60Cys)not provided [RCV005152390]uncertain significance99175755691757556Humanname
597914601CV3851157single nucleotide variantNM_004560.4(ROR2):c.2116C>A (p.Arg706=)not provided [RCV005204125]likely benign99172437891724378Humanname
13515637CV490301single nucleotide variantNM_004560.4(ROR2):c.2628G>A (p.Thr876=)Brachydactyly type B1 [RCV005044884]|not provided [RCV000594530]|not specified [RCV005418229]likely benign|conflicting interpretations of pathogenicity|uncertain significance99172386691723866Human1name
13517746CV491542single nucleotide variantNM_004560.4(ROR2):c.2286G>A (p.Ser762=)not provided [RCV000596777]conflicting interpretations of pathogenicity|uncertain significance99172420891724208Humanname
13832841CV584065single nucleotide variantNM_004560.4(ROR2):c.2517G>C (p.Pro839=)not provided [RCV000727923]uncertain significance99172397791723977Humanname
13834103CV585345single nucleotide variantNM_004560.4(ROR2):c.233C>G (p.Thr78Arg)not provided [RCV000729540]uncertain significance99175750291757502Humanname
13834961CV586212single nucleotide variantNM_004560.4(ROR2):c.1236C>T (p.Ile412=)not provided [RCV000730621]conflicting interpretations of pathogenicity|uncertain significance99172669191726691Humanname
13835311CV586568single nucleotide variantNM_004560.4(ROR2):c.2424C>T (p.Ile808=)not provided [RCV000731069]uncertain significance99172407091724070Humanname
15153553CV723655single nucleotide variantNM_004560.4(ROR2):c.2454C>T (p.Tyr818=)not provided [RCV000880033]likely benign99172404091724040Humanname
15108658CV723657single nucleotide variantNM_004560.4(ROR2):c.2274G>A (p.Ser758=)Brachydactyly type B1 [RCV002495404]|not provided [RCV000893708]|not specified [RCV001818688]likely benign99172422091724220Human1name
15201377CV723658single nucleotide variantNM_004560.4(ROR2):c.1863G>A (p.Val621=)Brachydactyly type B1 [RCV002479016]|ROR2-related disorder [RCV004541826]|not provided [RCV000891175]likely benign99172463191724631Human2name , trait , alternate_id
15113150CV723659single nucleotide variantNM_004560.4(ROR2):c.1524G>A (p.Thr508=)Brachydactyly type B1 [RCV002495413]|ROR2-related disorder [RCV004541844]|not provided [RCV000894607]likely benign99172497091724970Human2name , trait , alternate_id
15151374CV737226single nucleotide variantNM_004560.4(ROR2):c.2757T>C (p.Ser919=)not provided [RCV000901351]likely benign99172373791723737Humanname
15119374CV737227single nucleotide variantNM_004560.4(ROR2):c.2613A>C (p.Thr871=)Brachydactyly type B1 [RCV002502619]|not provided [RCV000895714]likely benign99172388191723881Human1name
15169138CV737228single nucleotide variantNM_004560.4(ROR2):c.2451C>T (p.Leu817=)Brachydactyly type B1 [RCV002502685]|not provided [RCV000904998]likely benign99172404391724043Human1name
15168962CV737229single nucleotide variantNM_004560.4(ROR2):c.2133G>A (p.Leu711=)not provided [RCV000904964]likely benign99172436191724361Humanname
15178704CV737231single nucleotide variantNM_004560.4(ROR2):c.1830C>T (p.His610=)not provided [RCV000906937]likely benign99172466491724664Humanname
15147638CV737232single nucleotide variantNM_004560.4(ROR2):c.1776C>T (p.Phe592=)not provided [RCV000900561]likely benign99172471891724718Humanname
15158471CV737233single nucleotide variantNM_004560.4(ROR2):c.1716G>A (p.Ser572=)Autosomal recessive Robinow syndrome [RCV001169181]|Brachydactyly type B1 [RCV001169180]|not provided [RCV000902740]likely benign|uncertain significance99172477891724778Human2name
15140124CV737234single nucleotide variantNM_004560.4(ROR2):c.1017G>A (p.Pro339=)not provided [RCV000899262]likely benign99173107691731076Humanname
15154396CV751810single nucleotide variantNM_004560.4(ROR2):c.2682T>G (p.Ala894=)not provided [RCV000924252]likely benign99172381291723812Humanname
15163438CV751812single nucleotide variantNM_004560.4(ROR2):c.1860T>C (p.Asn620=)not provided [RCV000926128]benign99172463491724634Humanname
15169509CV751813single nucleotide variantNM_004560.4(ROR2):c.1647G>A (p.Leu549=)not provided [RCV000927513]likely benign99172484791724847Humanname
15199406CV751814single nucleotide variantNM_004560.4(ROR2):c.1572G>A (p.Glu524=)Brachydactyly type B1 [RCV002505343]|not provided [RCV000912538]likely benign99172492291724922Human1name
15177397CV767504single nucleotide variantNM_004560.4(ROR2):c.1737T>C (p.Asp579=)not provided [RCV000929145]likely benign99172475791724757Humanname
15100946CV767505single nucleotide variantNM_004560.4(ROR2):c.1222T>C (p.Leu408=)not provided [RCV000936708]likely benign99172670591726705Humanname
15137084CV783476single nucleotide variantNM_004560.4(ROR2):c.2586C>T (p.His862=)Brachydactyly type B1 [RCV002489449]|not provided [RCV000982227]likely benign99172390891723908Human1name
15145361CV783477single nucleotide variantNM_004560.4(ROR2):c.2349C>T (p.Asn783=)not provided [RCV000983649]likely benign99172414591724145Humanname
15143517CV783478single nucleotide variantNM_004560.4(ROR2):c.1707G>A (p.Ser569=)not provided [RCV000983341]likely benign99172478791724787Humanname
15141298CV783479single nucleotide variantNM_004560.4(ROR2):c.1179G>T (p.Ser393=)not provided [RCV000982956]likely benign99173091491730914Humanname
28884049CV902478single nucleotide variantNM_004560.4(ROR2):c.2382G>A (p.Pro794=)Autosomal recessive Robinow syndrome [RCV001168383]|Brachydactyly type B1 [RCV001168384]|not provided [RCV001399464]benign|likely benign|uncertain significance99172411291724112Human2name
28876762CV902480single nucleotide variantNM_004560.4(ROR2):c.2208G>T (p.Arg736=)Autosomal recessive Robinow syndrome [RCV001166212]|Brachydactyly type B1 [RCV001166211]uncertain significance99172428691724286Human2name
28878320CV902481single nucleotide variantNM_004560.4(ROR2):c.2034C>T (p.Tyr678=)Autosomal recessive Robinow syndrome [RCV001166715]|Brachydactyly type B1 [RCV001166714]|not provided [RCV001436466]benign|likely benign|uncertain significance99172446091724460Human2name
28884255CV902483single nucleotide variantNM_004560.4(ROR2):c.1956G>A (p.Ser652=)Autosomal recessive Robinow syndrome [RCV001168441]|Brachydactyly type B1 [RCV001168440]|not provided [RCV002559617]likely benign|uncertain significance99172453891724538Human2name
28878577CV902485single nucleotide variantNM_004560.4(ROR2):c.1644C>A (p.Pro548=)Autosomal recessive Robinow syndrome [RCV001166784]|Brachydactyly type B1 [RCV001166785]uncertain significance99172485091724850Human2name
28878583CV902486single nucleotide variantNM_004560.4(ROR2):c.1596A>G (p.Gln532=)Autosomal recessive Robinow syndrome [RCV001166787]|Brachydactyly type B1 [RCV001166786]|not provided [RCV002067814]benign|likely benign|uncertain significance99172489891724898Human2name
28884468CV902487single nucleotide variantNM_004560.4(ROR2):c.1566G>T (p.Arg522=)Autosomal recessive Robinow syndrome [RCV001168502]|Brachydactyly type B1 [RCV001168501]uncertain significance99172492891724928Human2name
28887062CV902489single nucleotide variantNM_004560.4(ROR2):c.1317G>A (p.Pro439=)Autosomal recessive Robinow syndrome [RCV001169238]|Brachydactyly type B1 [RCV001169239]|not provided [RCV002068036]benign|uncertain significance99172661091726610Human2name
28887575CV902498single nucleotide variantNM_004560.4(ROR2):c.179A>C (p.Tyr60Ser)Autosomal recessive Robinow syndrome [RCV001169379]|Brachydactyly type B1 [RCV001169380]uncertain significance99175755691757556Human2name
28887582CV902499single nucleotide variantNM_004560.4(ROR2):c.155G>A (p.Gly52Asp)Autosomal recessive Robinow syndrome [RCV001169381]|Brachydactyly type B1 [RCV001169382]|not provided [RCV002068039]likely benign|uncertain significance99177576191775761Human2name
28877438CV902500single nucleotide variantNM_004560.4(ROR2):c.146G>T (p.Gly49Val)Autosomal recessive Robinow syndrome [RCV001166439]|Brachydactyly type B1 [RCV001166440]benign|uncertain significance99177577091775770Human2name
126909902CV971529deletionNM_004560.4(ROR2):c.675del (p.Gln225fs)Autosomal recessive Robinow syndrome [RCV001353130]pathogenic99173338491733384Human1name
126909898CV971532single nucleotide variantNM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)Autosomal recessive Robinow syndrome [RCV001353127]likely pathogenic99175748791757487Human1name
40886529CV973109deletionNM_004560.4(ROR2):c.990del (p.Thr331fs)Autosomal recessive Robinow syndrome [RCV001265650]pathogenic99173110391731103Human1name
126732221CV993532single nucleotide variantNM_004560.4(ROR2):c.1746G>A (p.Thr582=)Brachydactyly type B1 [RCV002493595]|not provided [RCV001304048]likely benign|uncertain significance99172474891724748Human1name
126730155CV1000009single nucleotide variantNM_004560.4(ROR2):c.769G>A (p.Glu257Lys)Brachydactyly type B1 [RCV002504472]|Short stature [RCV001310268]|not provided [RCV002543545]uncertain significance99173329091733290Human3name
126730153CV1000010single nucleotide variantNM_004560.4(ROR2):c.553T>C (p.Phe185Leu)Short stature [RCV001310266]uncertain significance99173746091737460Human2name
126730154CV1000011single nucleotide variantNM_004560.4(ROR2):c.302C>T (p.Pro101Leu)Brachydactyly type B1 [RCV002476436]|Short stature [RCV001310267]|not provided [RCV002545032]uncertain significance99175743391757433Human3name
126754719CV1008710single nucleotide variantNM_004560.4(ROR2):c.725G>A (p.Arg242His)ROR2-related disorder [RCV004528460]|not provided [RCV001316772]uncertain significance99173333491733334Human1name , trait , alternate_id
126771381CV1008711single nucleotide variantNM_004560.4(ROR2):c.329T>C (p.Ile110Thr)not provided [RCV001323131]uncertain significance99175740691757406Humanname
126736718CV1020659single nucleotide variantNM_004560.4(ROR2):c.361C>T (p.Arg121Ter)Brachydactyly type B1 [RCV001335148]pathogenic99175737491757374Human1name
126913784CV1046248single nucleotide variantNM_004560.4(ROR2):c.863C>T (p.Ala288Val)Inborn genetic diseases [RCV004034525]|not provided [RCV001359305]uncertain significance99173319691733196Human1name
126918529CV1046249single nucleotide variantNM_004560.4(ROR2):c.533G>A (p.Arg178Gln)Brachydactyly type B1 [RCV002488102]|Inborn genetic diseases [RCV002547782]|not provided [RCV001361774]uncertain significance99173748091737480Human2name
127274410CV1065712single nucleotide variantNM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)Autosomal recessive Robinow syndrome [RCV001391176]likely pathogenic99173114391731143Human1name
150547242CV1291952single nucleotide variantNM_004560.4(ROR2):c.362G>A (p.Arg121Gln)Autosomal recessive Robinow syndrome [RCV001733618]|Inborn genetic diseases [RCV004656643]uncertain significance99175737391757373Human2name
150548466CV1294325single nucleotide variantNM_004560.4(ROR2):c.746G>A (p.Arg249His)Brachydactyly type B1 [RCV005040347]|not provided [RCV001751817]uncertain significance99173331391733313Human1name
150543190CV1309355single nucleotide variantNM_004560.4(ROR2):c.929T>G (p.Leu310Arg)not provided [RCV003238427]uncertain significance99173313091733130Humanname
151787062CV1345569single nucleotide variantNM_004560.4(ROR2):c.663C>G (p.Asp221Glu)Brachydactyly type B1 [RCV005042459]|not provided [RCV001897802]uncertain significance99173339691733396Human1name
151827722CV1348133single nucleotide variantNM_004560.4(ROR2):c.934C>T (p.Arg312Cys)not provided [RCV001870228]uncertain significance99173312591733125Humanname
151824096CV1352326single nucleotide variantNM_004560.4(ROR2):c.496G>T (p.Asp166Tyr)not provided [RCV002013675]uncertain significance99173751791737517Humanname
151877181CV1360396single nucleotide variantNM_004560.4(ROR2):c.634A>G (p.Met212Val)not provided [RCV001907213]uncertain significance99173342591733425Humanname
151807963CV1365364single nucleotide variantNM_004560.4(ROR2):c.765G>C (p.Glu255Asp)not provided [RCV001899677]uncertain significance99173329491733294Humanname
151721762CV1389024single nucleotide variantNM_004560.4(ROR2):c.902T>A (p.Met301Lys)not provided [RCV002040186]uncertain significance99173315791733157Humanname
151767005CV1393925single nucleotide variantNM_004560.4(ROR2):c.457C>T (p.Arg153Trp)Brachydactyly type B1 [RCV002492248]|Inborn genetic diseases [RCV003170382]|not provided [RCV002008480]uncertain significance99175727891757278Human2name
151878805CV1398548single nucleotide variantNM_004560.4(ROR2):c.334C>T (p.Arg112Trp)Brachydactyly type B1 [RCV002486634]|Inborn genetic diseases [RCV003170535]|not provided [RCV002019877]uncertain significance99175740191757401Human2name
151774301CV1402355single nucleotide variantNM_004560.4(ROR2):c.922G>A (p.Glu308Lys)Brachydactyly type B1 [RCV005050428]|not provided [RCV001929827]uncertain significance99173313791733137Human1name
151771081CV1410860single nucleotide variantNM_004560.4(ROR2):c.317C>T (p.Pro106Leu)not provided [RCV001971189]likely benign99175741891757418Humanname
151795525CV1421264single nucleotide variantNM_004560.4(ROR2):c.879G>C (p.Glu293Asp)not provided [RCV001917221]uncertain significance99173318091733180Humanname
151767735CV1450690single nucleotide variantNM_004560.4(ROR2):c.626C>T (p.Ala209Val)not provided [RCV001929218]uncertain significance99173343391733433Humanname
151851179CV1460544single nucleotide variantNM_004560.4(ROR2):c.622G>A (p.Ala208Thr)not provided [RCV001904115]uncertain significance99173739191737391Humanname
152087945CV1594778single nucleotide variantNM_004560.4(ROR2):c.532C>T (p.Arg178Trp)not provided [RCV002113669]likely benign99173748191737481Humanname
152042950CV1621778single nucleotide variantNM_004560.4(ROR2):c.485A>G (p.His162Arg)Brachydactyly type B1 [RCV002479908]|not provided [RCV002107987]benign|likely benign99175608091756080Human1name
152120122CV1659382single nucleotide variantNM_004560.4(ROR2):c.538A>G (p.Ile180Val)not provided [RCV002175458]benign99173747591737475Humanname
9683731CV168808single nucleotide variantNM_004560.4(ROR2):c.986G>A (p.Ser329Asn)Autosomal recessive Robinow syndrome [RCV000147395]|Brachydactyly type B1 [RCV000276095]|ROR2-related disorder [RCV004544344]|not provided [RCV000894196]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99173110791731107Human2name , trait , alternate_id
9683728CV168809single nucleotide variantNM_004560.4(ROR2):c.733A>G (p.Thr245Ala)Autosomal recessive Robinow syndrome [RCV000299600]|Brachydactyly type B1 [RCV000357148]|not provided [RCV001522560]|not specified [RCV000147392]benign|likely benign|conflicting interpretations of pathogenicity99173332691733326Human2name
153348763CV1692807single nucleotide variantNM_004560.4(ROR2):c.536G>T (p.Gly179Val)not provided [RCV002274663]uncertain significance99173747791737477Humanname
156306605CV1877794single nucleotide variantNM_004560.4(ROR2):c.623C>T (p.Ala208Val)not provided [RCV003062219]uncertain significance99173343691733436Humanname
156153575CV1934617single nucleotide variantNM_004560.4(ROR2):c.394T>C (p.Tyr132His)not provided [RCV002663979]uncertain significance99175734191757341Humanname
10051532CV193553single nucleotide variantNM_004560.4(ROR2):c.298G>A (p.Ala100Thr)Brachydactyly type B1 [RCV005396538]|not provided [RCV000724079]|not specified [RCV000177208]conflicting interpretations of pathogenicity|uncertain significance99175743791757437Human1name
156444500CV1938359single nucleotide variantNM_004560.4(ROR2):c.794G>A (p.Arg265His)Brachydactyly type B1 [RCV005047419]|not provided [RCV003115424]uncertain significance99173326591733265Human1name
10052788CV195337single nucleotide variantNM_004560.4(ROR2):c.730C>T (p.Arg244Trp)Autosomal recessive Robinow syndrome [RCV000779586]|Brachydactyly type B1 [RCV001166901]|not provided [RCV001511051]|not specified [RCV000179445]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99173332991733329Human2name
156120594CV1969156single nucleotide variantNM_004560.4(ROR2):c.934C>A (p.Arg312Ser)Inborn genetic diseases [RCV002593115]|not provided [RCV002593114]uncertain significance99173312591733125Human1name
156419734CV1970397single nucleotide variantNM_004560.4(ROR2):c.406G>A (p.Val136Met)not provided [RCV002612975]uncertain significance99175732991757329Humanname
156163549CV1971348single nucleotide variantNM_004560.4(ROR2):c.824C>T (p.Pro275Leu)not provided [RCV002594549]uncertain significance99173323591733235Humanname
156288917CV1998051single nucleotide variantNM_004560.4(ROR2):c.743C>T (p.Pro248Leu)Brachydactyly type B1 [RCV005042943]|Inborn genetic diseases [RCV004958680]|not provided [RCV002647115]uncertain significance99173331691733316Human2name
156044694CV1999185single nucleotide variantNM_004560.4(ROR2):c.310C>T (p.Gln104Ter)not provided [RCV002659166]pathogenic99175742591757425Humanname
156362244CV2003283single nucleotide variantNM_004560.4(ROR2):c.378C>A (p.Asp126Glu)not provided [RCV002676324]uncertain significance99175735791757357Humanname
156208500CV2032162single nucleotide variantNM_004560.4(ROR2):c.853A>G (p.Lys285Glu)not provided [RCV002711672]uncertain significance99173320691733206Humanname
156284608CV2061612deletionNM_004560.4(ROR2):c.2290del (p.Ala764fs)not provided [RCV002832960]uncertain significance99172420491724204Humanname
10404026CV207728single nucleotide variantNM_004560.4(ROR2):c.904C>T (p.Arg302Cys)Autosomal recessive Robinow syndrome [RCV001353133]|Brachydactyly type B1 [RCV002503756]|not specified [RCV000193988]pathogenic|likely pathogenic|uncertain significance99173315591733155Human2name
156101976CV2088047deletionNM_004560.4(ROR2):c.1067del (p.Pro356fs)not provided [RCV002848118]pathogenic99173102691731026Humanname
156029101CV2105306single nucleotide variantNM_004560.4(ROR2):c.980C>T (p.Thr327Met)not provided [RCV002909982]uncertain significance99173111391731113Humanname
156007071CV2127456single nucleotide variantNM_004560.4(ROR2):c.722C>T (p.Ala241Val)Inborn genetic diseases [RCV004958862]|not provided [RCV002948068]uncertain significance99173333791733337Human1name
156179367CV2155318single nucleotide variantNM_004560.4(ROR2):c.835A>G (p.Met279Val)not provided [RCV003005656]uncertain significance99173322491733224Humanname
8559824CV22345deletionNM_004560.4(ROR2):c.2249del (p.Gly750fs)Brachydactyly type B1 [RCV000007729]pathogenic99172424591724245Human1name
8597487CV22347single nucleotide variantNM_004560.4(ROR2):c.550C>T (p.Arg184Cys)Autosomal recessive Robinow syndrome [RCV000007731]|Brachydactyly type B1 [RCV005042008]pathogenic|likely pathogenic99173746391737463Human2name
8597489CV22349single nucleotide variantNM_004560.4(ROR2):c.613C>T (p.Arg205Ter)Autosomal recessive Robinow syndrome [RCV000007733]pathogenic99173740091737400Human1name
8597491CV22353single nucleotide variantNM_004560.4(ROR2):c.355C>T (p.Arg119Ter)Autosomal recessive Robinow syndrome [RCV000007738]|not provided [RCV000238984]pathogenic99175738091757380Human1name
8559827CV22354deletionNM_004560.4(ROR2):c.622+762_1184-1036delAutosomal recessive Robinow syndrome [RCV000007739]pathogenic99172777991736629Human1name
8559828CV22355duplicationNM_004560.4(ROR2):c.1366dup (p.Leu456fs)Brachydactyly type B1 [RCV000007740]|not provided [RCV004589500]pathogenic99172656091726561Human1name
8559829CV22356deletionNM_004560.4(ROR2):c.2244del (p.Trp749fs)Brachydactyly type B1 [RCV000007741]pathogenic99172425091724250Human1name
156262061CV2282451single nucleotide variantNM_004560.4(ROR2):c.727T>G (p.Ser243Ala)Inborn genetic diseases [RCV002831773]uncertain significance99173333291733332Human1name
156347299CV2315228single nucleotide variantNM_004560.4(ROR2):c.335G>A (p.Arg112Gln)Inborn genetic diseases [RCV002939341]uncertain significance99175740091757400Human1name
156168731CV2373820single nucleotide variantNM_004560.4(ROR2):c.319C>T (p.Arg107Trp)Inborn genetic diseases [RCV002698698]|not provided [RCV005099097]uncertain significance99175741691757416Human1name
156205846CV2401520single nucleotide variantNM_004560.4(ROR2):c.640G>C (p.Gly214Arg)Autosomal recessive Robinow syndrome [RCV002790050]likely pathogenic99173341991733419Human1name
329847326CV2534510single nucleotide variantNM_004560.4(ROR2):c.854A>G (p.Lys285Arg)Autosomal recessive Robinow syndrome [RCV003228722]likely pathogenic99173320591733205Human1name
401763604CV2704002single nucleotide variantNM_004560.4(ROR2):c.673C>G (p.Gln225Glu)Inborn genetic diseases [RCV003281582]uncertain significance99173338691733386Human1name
11642514CV270772single nucleotide variantNM_004560.4(ROR2):c.380C>T (p.Thr127Met)not provided [RCV000376962]conflicting interpretations of pathogenicity|uncertain significance99175735591757355Humanname
11577986CV272374single nucleotide variantNM_004560.4(ROR2):c.568A>G (p.Thr190Ala)Autosomal recessive Robinow syndrome [RCV000329348]|Brachydactyly type B1 [RCV000271810]|Brachydactyly type B1 [RCV005044545]|not provided [RCV000337531]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99173744591737445Human2name
401761979CV2726987single nucleotide variantNM_004560.4(ROR2):c.902T>C (p.Met301Thr)Inborn genetic diseases [RCV003300042]|not provided [RCV003777086]uncertain significance99173315791733157Human1name
401918764CV2794671deletionNM_004560.4(ROR2):c.2254del (p.Leu752fs)Brachydactyly type B1 [RCV003388345]|not provided [RCV005104271]pathogenic|uncertain significance99172424091724240Human1name
402478469CV2854568single nucleotide variantNM_004560.4(ROR2):c.377A>C (p.Asp126Ala)not provided [RCV003543751]uncertain significance99175735891757358Humanname
402494375CV2874373single nucleotide variantNM_004560.4(ROR2):c.388A>T (p.Thr130Ser)not provided [RCV003545240]uncertain significance99175734791757347Humanname
405212171CV2878616single nucleotide variantNM_004560.4(ROR2):c.640G>A (p.Gly214Ser)not provided [RCV003552753]uncertain significance99173341991733419Humanname
402515963CV2936373single nucleotide variantNM_004560.4(ROR2):c.637A>G (p.Ile213Val)not provided [RCV003662951]uncertain significance99173342291733422Humanname
405179387CV2956096single nucleotide variantNM_004560.4(ROR2):c.752T>C (p.Leu251Pro)not provided [RCV003676121]uncertain significance99173330791733307Humanname
405233008CV2965240single nucleotide variantNM_004560.4(ROR2):c.448C>G (p.Leu150Val)not provided [RCV003682495]uncertain significance99175728791757287Humanname
405238007CV2970008single nucleotide variantNM_004560.4(ROR2):c.888C>G (p.Asp296Glu)not provided [RCV003683386]uncertain significance99173317191733171Humanname
405115989CV3020056single nucleotide variantNM_004560.4(ROR2):c.604A>G (p.Ile202Val)not provided [RCV003700245]uncertain significance99173740991737409Humanname
405178399CV3056363single nucleotide variantNM_004560.4(ROR2):c.731G>C (p.Arg244Pro)Inborn genetic diseases [RCV004953456]|not provided [RCV003728487]uncertain significance99173332891733328Human1name
402523983CV3123602single nucleotide variantNM_004560.4(ROR2):c.941A>G (p.His314Arg)not provided [RCV003825028]uncertain significance99173115291731152Humanname
405091009CV3138197single nucleotide variantNM_004560.4(ROR2):c.757C>T (p.Arg253Cys)Brachydactyly type B1 [RCV005040551]|Inborn genetic diseases [RCV004953583]|not provided [RCV003834715]uncertain significance99173330291733302Human2name
11606089CV319349single nucleotide variantNM_004560.4(ROR2):c.935G>A (p.Arg312His)Autosomal recessive Robinow syndrome [RCV000384676]|Brachydactyly type B1 [RCV000327244]|ROR2-related disorder [RCV004544717]|Short stature [RCV001310265]|not provided [RCV002058819]benign|likely benign|uncertain significance99173312491733124Human4name , trait , alternate_id
407487202CV3479897single nucleotide variantNM_004560.4(ROR2):c.839G>A (p.Arg280Gln)Inborn genetic diseases [RCV004665620]uncertain significance99173322091733220Human1name
407513564CV3479898single nucleotide variantNM_004560.4(ROR2):c.954C>G (p.Asn318Lys)Inborn genetic diseases [RCV004674171]uncertain significance99173113991731139Human1name
596924471CV3532274single nucleotide variantNM_004560.4(ROR2):c.685C>A (p.Pro229Thr)not provided [RCV004777385]uncertain significance99173337491733374Humanname
596927494CV3541104duplicationNM_004560.4(ROR2):c.1205dup (p.Met402fs)Brachydactyly type B1 [RCV004796974]pathogenic99172672191726722Human1name
597719436CV3586943single nucleotide variantNM_004560.4(ROR2):c.708T>G (p.Phe236Leu)Inborn genetic diseases [RCV004960270]uncertain significance99173335191733351Human1name
597710823CV3719663deletionNM_004560.4(ROR2):c.2353del (p.Arg785fs)Brachydactyly type B1 [RCV005048679]likely pathogenic99172414191724141Human1name
597710974CV3719683deletionNM_004560.4(ROR2):c.1855del (p.Arg619fs)Brachydactyly type B1 [RCV005048696]likely pathogenic99172463991724639Human1name
597711111CV3719705deletionNM_004560.4(ROR2):c.1137del (p.Gln380fs)Brachydactyly type B1 [RCV005048711]likely pathogenic99173095691730956Human1name
597716364CV3719710duplicationNM_004560.4(ROR2):c.1083dup (p.His362fs)Brachydactyly type B1 [RCV005049220]likely pathogenic99173100991731010Human1name
597711155CV3719712single nucleotide variantNM_004560.4(ROR2):c.919G>C (p.Ala307Pro)Brachydactyly type B1 [RCV005048716]uncertain significance99173314091733140Human1name
597716373CV3719713single nucleotide variantNM_004560.4(ROR2):c.896A>T (p.Asn299Ile)Brachydactyly type B1 [RCV005049221]uncertain significance99173316391733163Human1name
597711181CV3719716single nucleotide variantNM_004560.4(ROR2):c.847C>G (p.Leu283Val)Brachydactyly type B1 [RCV005048719]uncertain significance99173321291733212Human1name
597716382CV3719717single nucleotide variantNM_004560.4(ROR2):c.839G>T (p.Arg280Leu)Brachydactyly type B1 [RCV005049222]uncertain significance99173322091733220Human1name
597711190CV3719718single nucleotide variantNM_004560.4(ROR2):c.837G>T (p.Met279Ile)Brachydactyly type B1 [RCV005048720]uncertain significance99173322291733222Human1name
597716390CV3719719single nucleotide variantNM_004560.4(ROR2):c.811G>A (p.Ala271Thr)Brachydactyly type B1 [RCV005049223]uncertain significance99173324891733248Human1name
597711200CV3719720single nucleotide variantNM_004560.4(ROR2):c.799G>T (p.Glu267Ter)Brachydactyly type B1 [RCV005048721]likely pathogenic99173326091733260Human1name
597716402CV3719722single nucleotide variantNM_004560.4(ROR2):c.768C>G (p.Cys256Trp)Brachydactyly type B1 [RCV005049224]uncertain significance99173329191733291Human1name
597711217CV3719723single nucleotide variantNM_004560.4(ROR2):c.745C>T (p.Arg249Cys)Brachydactyly type B1 [RCV005048723]uncertain significance99173331491733314Human1name
597711225CV3719724single nucleotide variantNM_004560.4(ROR2):c.725G>T (p.Arg242Leu)Brachydactyly type B1 [RCV005048724]uncertain significance99173333491733334Human1name
597711235CV3719725single nucleotide variantNM_004560.4(ROR2):c.713T>C (p.Leu238Pro)Brachydactyly type B1 [RCV005048725]uncertain significance99173334691733346Human1name
597711243CV3719726single nucleotide variantNM_004560.4(ROR2):c.674A>G (p.Gln225Arg)Brachydactyly type B1 [RCV005048726]uncertain significance99173338591733385Human1name
597711253CV3719727single nucleotide variantNM_004560.4(ROR2):c.649A>G (p.Thr217Ala)Brachydactyly type B1 [RCV005048727]uncertain significance99173341091733410Human1name
597711259CV3719728single nucleotide variantNM_004560.4(ROR2):c.644C>T (p.Thr215Met)Brachydactyly type B1 [RCV005048728]uncertain significance99173341591733415Human1name
597711265CV3719729single nucleotide variantNM_004560.4(ROR2):c.605T>C (p.Ile202Thr)Brachydactyly type B1 [RCV005048729]uncertain significance99173740891737408Human1name
597711275CV3719730single nucleotide variantNM_004560.4(ROR2):c.565C>T (p.Arg189Trp)Brachydactyly type B1 [RCV005048730]uncertain significance99173744891737448Human1name
597711284CV3719731single nucleotide variantNM_004560.4(ROR2):c.557T>C (p.Ile186Thr)Brachydactyly type B1 [RCV005048731]uncertain significance99173745691737456Human1name
597711294CV3719732single nucleotide variantNM_004560.4(ROR2):c.508G>A (p.Glu170Lys)Brachydactyly type B1 [RCV005048732]uncertain significance99173750591737505Human1name
597716412CV3719733single nucleotide variantNM_004560.4(ROR2):c.477C>A (p.Ser159Arg)Brachydactyly type B1 [RCV005049225]uncertain significance99175608891756088Human1name
597711313CV3719734single nucleotide variantNM_004560.4(ROR2):c.439A>G (p.Thr147Ala)Brachydactyly type B1 [RCV005048734]uncertain significance99175729691757296Human1name
597716422CV3719735single nucleotide variantNM_004560.4(ROR2):c.437C>T (p.Ala146Val)Brachydactyly type B1 [RCV005049226]uncertain significance99175729891757298Human1name
597711321CV3719736single nucleotide variantNM_004560.4(ROR2):c.301C>T (p.Pro101Ser)Brachydactyly type B1 [RCV005048735]uncertain significance99175743491757434Human1name
597711330CV3719737single nucleotide variantNM_004560.4(ROR2):c.299C>A (p.Ala100Asp)Brachydactyly type B1 [RCV005048736]uncertain significance99175743691757436Human1name
597831137CV3739920single nucleotide variantNM_004560.4(ROR2):c.907A>G (p.Ile303Val)not provided [RCV005062618]uncertain significance99173315291733152Humanname
597928582CV3749155single nucleotide variantNM_004560.4(ROR2):c.527C>T (p.Pro176Leu)not provided [RCV005075611]uncertain significance99173748691737486Humanname
597868823CV3749713single nucleotide variantNM_004560.4(ROR2):c.584C>T (p.Ser195Leu)not provided [RCV005068394]uncertain significance99173742991737429Humanname
597850213CV3761767single nucleotide variantNM_004560.4(ROR2):c.347A>G (p.Tyr116Cys)not provided [RCV005087863]uncertain significance99175738891757388Humanname
597876084CV3766565single nucleotide variantNM_004560.4(ROR2):c.701T>C (p.Phe234Ser)not provided [RCV005108505]uncertain significance99173335891733358Humanname
597922273CV3775673single nucleotide variantNM_004560.4(ROR2):c.531C>G (p.Tyr177Ter)not provided [RCV005115388]pathogenic99173748291737482Humanname
597898680CV3782600single nucleotide variantNM_004560.4(ROR2):c.913A>T (p.Ile305Phe)not provided [RCV005126825]uncertain significance99173314691733146Humanname
597947497CV3807538single nucleotide variantNM_004560.4(ROR2):c.679G>A (p.Ala227Thr)not provided [RCV005160173]uncertain significance99173338091733380Humanname
597863532CV3814040single nucleotide variantNM_004560.4(ROR2):c.315G>T (p.Glu105Asp)not provided [RCV005147109]uncertain significance99175742091757420Humanname
597859154CV3822449single nucleotide variantNM_004560.4(ROR2):c.794G>T (p.Arg265Leu)not provided [RCV005174747]uncertain significance99173326591733265Humanname
598126835CV3882293deletionNM_004560.4(ROR2):c.1083del (p.His362fs)not provided [RCV005233844]likely pathogenic99173101091731010Humanname
598219649CV3906125single nucleotide variantNM_004560.4(ROR2):c.602A>G (p.Glu201Gly)Inborn genetic diseases [RCV005272108]uncertain significance99173741191737411Human1name
598176879CV4008203single nucleotide variantNM_004560.4(ROR2):c.805A>T (p.Thr269Ser)Brachydactyly type B1 [RCV005393719]uncertain significance99173325491733254Human1name
13516140CV488545single nucleotide variantNM_004560.4(ROR2):c.871A>G (p.Met291Val)Brachydactyly type B1 [RCV002483574]|Inborn genetic diseases [RCV004955679]|not provided [RCV000595147]uncertain significance99173318891733188Human2name
13519388CV489879single nucleotide variantNM_004560.4(ROR2):c.808A>G (p.Ile270Val)Fetal akinesia deformation sequence 1 [RCV000855499]|not provided [RCV000597894]likely pathogenic|uncertain significance99173325191733251Human3name
15040406CV615894single nucleotide variantNM_004560.4(ROR2):c.323G>A (p.Arg108Gln)Autosomal recessive Robinow syndrome [RCV000855449]likely pathogenic99175741291757412Human1name
15145404CV751820single nucleotide variantNM_004560.4(ROR2):c.721G>A (p.Ala241Thr)Brachydactyly type B1 [RCV002487999]|Inborn genetic diseases [RCV004029477]|not provided [RCV000922535]likely benign99173333891733338Human2name
28878775CV902493single nucleotide variantNM_004560.4(ROR2):c.989C>T (p.Thr330Ile)Autosomal recessive Robinow syndrome [RCV001166842]|Brachydactyly type B1 [RCV001166841]|not provided [RCV005093697]uncertain significance99173110491731104Human2name
28887337CV902494single nucleotide variantNM_004560.4(ROR2):c.886G>A (p.Asp296Asn)Autosomal recessive Robinow syndrome [RCV001169312]|Brachydactyly type B1 [RCV001169311]|not provided [RCV002558681]uncertain significance99173317391733173Human2name
28887343CV902495single nucleotide variantNM_004560.4(ROR2):c.760G>A (p.Asp254Asn)Autosomal recessive Robinow syndrome [RCV001169314]|Brachydactyly type B1 [RCV001169313]|Brachydactyly type B1 [RCV005394779]|not provided [RCV002067833]benign|likely benign|uncertain significance99173329991733299Human2name
28877231CV902496single nucleotide variantNM_004560.4(ROR2):c.731G>A (p.Arg244Gln)Autosomal recessive Robinow syndrome [RCV001166380]|Brachydactyly type B1 [RCV001166381]uncertain significance99173332891733328Human2name
28878982CV902497single nucleotide variantNM_004560.4(ROR2):c.722C>A (p.Ala241Glu)Autosomal recessive Robinow syndrome [RCV001166903]|Brachydactyly type B1 [RCV001166902]|Inborn genetic diseases [RCV004960511]|not provided [RCV001751297]likely benign|uncertain significance99173333791733337Human3name
126909905CV971527single nucleotide variantNM_004560.4(ROR2):c.899G>T (p.Cys300Phe)Autosomal recessive Robinow syndrome [RCV001353132]likely pathogenic99173316091733160Human1name
126909903CV971528single nucleotide variantNM_004560.4(ROR2):c.717C>A (p.Cys239Ter)Autosomal recessive Robinow syndrome [RCV001353131]likely pathogenic99173334291733342Human1name
126909896CV971533microsatelliteNM_004560.4(ROR2):c.79_80del (p.Ser29fs)Autosomal recessive Robinow syndrome [RCV001353126]pathogenic99194988491949885Humanname
126729834CV985742duplicationNM_004560.4(ROR2):c.2625dup (p.Thr876fs)Brachydactyly type B1 [RCV001293680]|Short stature [RCV001310271]likely pathogenic|uncertain significance99172386891723869Human3name
126746325CV993533single nucleotide variantNM_004560.4(ROR2):c.703G>A (p.Val235Met)not provided [RCV001296562]uncertain significance99173335691733356Humanname
126730161CV1000005single nucleotide variantNM_004560.4(ROR2):c.2236C>T (p.Leu746Phe)Short stature [RCV001310269]|not provided [RCV002543546]uncertain significance99172425891724258Human2name
126730147CV1000006single nucleotide variantNM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)Short stature [RCV001310264]|not provided [RCV002543544]likely benign|uncertain significance99172437791724377Human2name
126730163CV1000007single nucleotide variantNM_004560.4(ROR2):c.2014G>A (p.Asp672Asn)Brachydactyly type B1 [RCV002476437]|Short stature [RCV001310270]|not provided [RCV003558804]uncertain significance99172448091724480Human3name
126730144CV1000008single nucleotide variantNM_004560.4(ROR2):c.1930G>A (p.Asp644Asn)Short stature [RCV001310263]|not provided [RCV002070131]likely benign|uncertain significance99172456491724564Human2name
126735303CV1008709single nucleotide variantNM_004560.4(ROR2):c.2820G>C (p.Gln940His)not provided [RCV001313703]uncertain significance99172367491723674Humanname
126727554CV1017221single nucleotide variantNM_004560.4(ROR2):c.2305C>T (p.Gln769Ter)Brachydactyly type B1 [RCV001332481]|not provided [RCV001773668]pathogenic|uncertain significance99172418991724189Human1name
126773917CV1029269single nucleotide variantNM_004560.4(ROR2):c.1285C>T (p.Arg429Trp)Brachydactyly type B1 [RCV005040205]|not provided [RCV001346625]uncertain significance99172664291726642Human1name
126909746CV1046245single nucleotide variantNM_004560.4(ROR2):c.2354G>A (p.Arg785His)Brachydactyly type B1 [RCV002488145]|Inborn genetic diseases [RCV002550077]|not provided [RCV001368629]uncertain significance99172414091724140Human2name
126923184CV1046246single nucleotide variantNM_004560.4(ROR2):c.1873G>A (p.Asp625Asn)Brachydactyly type B1 [RCV002476668]|not provided [RCV001365551]uncertain significance99172462191724621Human1name
126917019CV1046247single nucleotide variantNM_004560.4(ROR2):c.1630A>G (p.Thr544Ala)Brachydactyly type B1 [RCV002488175]|Inborn genetic diseases [RCV002550138]|not provided [RCV001371838]uncertain significance99172486491724864Human2name
127331591CV1140770single nucleotide variantNM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)Brachydactyly type B1 [RCV005040290]|not provided [RCV001488912]likely benign|conflicting interpretations of pathogenicity|uncertain significance99172379691723796Human1name
150410053CV1177236single nucleotide variantNM_004560.4(ROR2):c.1969C>T (p.Arg657Cys)Brachydactyly type B1 [RCV005040315]|ROR2-related disorder [RCV004734227]|not provided [RCV001546462]likely pathogenic|uncertain significance99172452591724525Human2name , trait , alternate_id
150549637CV1297161single nucleotide variantNM_004560.4(ROR2):c.1927G>A (p.Ala643Thr)not provided [RCV001765259]uncertain significance99172456791724567Humanname
150555645CV1304799single nucleotide variantNM_004560.4(ROR2):c.2249G>A (p.Gly750Asp)Brachydactyly type B1 [RCV005040365]|not provided [RCV001773047]uncertain significance99172424591724245Human1name
151354086CV1327638single nucleotide variantNM_004560.4(ROR2):c.1687G>A (p.Glu563Lys)Brachydactyly type B1 [RCV002482357]|not provided [RCV001885328]|not specified [RCV001817582]uncertain significance99172480791724807Human1name
151801472CV1365933single nucleotide variantNM_004560.4(ROR2):c.1771G>A (p.Asp591Asn)Brachydactyly type B1 [RCV002506992]|not provided [RCV001917758]uncertain significance99172472391724723Human1name
151878664CV1370140single nucleotide variantNM_004560.4(ROR2):c.1255G>A (p.Ala419Thr)not provided [RCV001961360]uncertain significance99172667291726672Humanname
151801241CV1373244single nucleotide variantNM_004560.4(ROR2):c.1715C>T (p.Ser572Leu)Brachydactyly type B1 [RCV005040434]|Inborn genetic diseases [RCV005271417]|not provided [RCV001932329]uncertain significance99172477991724779Human2name
151776927CV1380999single nucleotide variantNM_004560.4(ROR2):c.1502C>A (p.Thr501Asn)Brachydactyly type B1 [RCV002486702]|Inborn genetic diseases [RCV003161223]|not provided [RCV002045776]uncertain significance99172499291724992Human2name
151835843CV1382958single nucleotide variantNM_004560.4(ROR2):c.1564C>T (p.Arg522Trp)Brachydactyly type B1 [RCV005042519]|Inborn genetic diseases [RCV004955837]|not provided [RCV001935544]uncertain significance99172493091724930Human2name
151831080CV1384544single nucleotide variantNM_004560.4(ROR2):c.2725G>A (p.Val909Met)Inborn genetic diseases [RCV004043644]|not provided [RCV001955687]uncertain significance99172376991723769Human1name
151765960CV1387626single nucleotide variantNM_004560.4(ROR2):c.1240A>G (p.Ile414Val)Brachydactyly type B1 [RCV002497847]|not provided [RCV001987779]uncertain significance99172668791726687Human1name
151714665CV1392407single nucleotide variantNM_004560.4(ROR2):c.2523G>C (p.Gln841His)not provided [RCV001908723]uncertain significance99172397191723971Humanname
151796913CV1392696single nucleotide variantNM_004560.4(ROR2):c.1601C>A (p.Pro534His)Brachydactyly type B1 [RCV002507004]|Inborn genetic diseases [RCV002555315]|not provided [RCV001898701]uncertain significance99172489391724893Human2name
151711038CV1394914single nucleotide variantNM_004560.4(ROR2):c.2467G>A (p.Gly823Ser)Brachydactyly type B1 [RCV005042625]|not provided [RCV001964300]uncertain significance99172402791724027Human1name
151833556CV1396365single nucleotide variantNM_004560.4(ROR2):c.1757C>T (p.Ala586Val)not provided [RCV001902047]uncertain significance99172473791724737Humanname
151828231CV1400661single nucleotide variantNM_004560.4(ROR2):c.1955C>T (p.Ser652Leu)not provided [RCV001976388]uncertain significance99172453991724539Humanname
151773318CV1401281single nucleotide variantNM_004560.4(ROR2):c.2782G>C (p.Asp928His)Brachydactyly type B1 [RCV002486647]|Inborn genetic diseases [RCV002675459]|not provided [RCV002045458]uncertain significance99172371291723712Human2name
151788858CV1413102single nucleotide variantNM_004560.4(ROR2):c.1732G>A (p.Asp578Asn)Brachydactyly type B1 [RCV002479568]|not provided [RCV001989877]uncertain significance99172476291724762Human1name
151740791CV1425334single nucleotide variantNM_004560.4(ROR2):c.1604A>G (p.Asn535Ser)Brachydactyly type B1 [RCV005042529]|not provided [RCV001926448]uncertain significance99172489091724890Human1name
151794144CV1434220single nucleotide variantNM_004560.4(ROR2):c.2725G>C (p.Val909Leu)not provided [RCV001866523]uncertain significance99172376991723769Humanname
151789075CV1434381single nucleotide variantNM_004560.4(ROR2):c.2233C>T (p.Arg745Trp)not provided [RCV001876334]uncertain significance99172426191724261Humanname
151795614CV1434494single nucleotide variantNM_004560.4(ROR2):c.1574C>G (p.Ala525Gly)not provided [RCV001866653]uncertain significance99172492091724920Humanname
151870429CV1436791single nucleotide variantNM_004560.4(ROR2):c.2828C>A (p.Ala943Asp)not provided [RCV002018865]uncertain significance99172366691723666Humanname
151867800CV1437897single nucleotide variantNM_004560.4(ROR2):c.2359G>A (p.Val787Met)not provided [RCV001906093]uncertain significance99172413591724135Humanname
151710876CV1443517single nucleotide variantNM_004560.4(ROR2):c.2521C>G (p.Gln841Glu)Brachydactyly type B1 [RCV002503446]|Inborn genetic diseases [RCV004040547]|not provided [RCV001907976]uncertain significance99172397391723973Human2name
151777219CV1454002single nucleotide variantNM_004560.4(ROR2):c.1913G>A (p.Arg638Gln)Brachydactyly type B1 [RCV002478320]|Inborn genetic diseases [RCV005271481]|not provided [RCV001915542]uncertain significance99172458191724581Human2name
151731864CV1454337single nucleotide variantNM_004560.4(ROR2):c.1606G>A (p.Val536Ile)Brachydactyly type B1 [RCV005042544]|not provided [RCV001967194]uncertain significance99172488891724888Human1name
151774640CV1455665single nucleotide variantNM_004560.4(ROR2):c.2267A>G (p.Asn756Ser)not provided [RCV002045573]uncertain significance99172422791724227Humanname
151876727CV1461438single nucleotide variantNM_004560.4(ROR2):c.2770G>C (p.Glu924Gln)not provided [RCV001925912]uncertain significance99172372491723724Humanname
151887023CV1464422single nucleotide variantNM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)Autosomal recessive Robinow syndrome [RCV003444965]|Brachydactyly type B1 [RCV005050482]|not provided [RCV001942300]pathogenic|likely pathogenic99172491291724912Human2name
151832419CV1480449single nucleotide variantNM_004560.4(ROR2):c.2378C>T (p.Ala793Val)Brachydactyly type B1 [RCV005042494]|not provided [RCV001935190]uncertain significance99172411691724116Human1name
151819191CV1488207single nucleotide variantNM_004560.4(ROR2):c.1360A>G (p.Met454Val)not provided [RCV001975561]uncertain significance99172656791726567Humanname
151820117CV1488510single nucleotide variantNM_004560.4(ROR2):c.2143G>A (p.Asp715Asn)Inborn genetic diseases [RCV002569321]|not provided [RCV001975644]uncertain significance99172435191724351Human1name
151760726CV1497291single nucleotide variantNM_004560.4(ROR2):c.1553G>A (p.Arg518Gln)Brachydactyly type B1 [RCV002484671]|Inborn genetic diseases [RCV004955914]|not provided [RCV001987237]uncertain significance99172494191724941Human2name
151709879CV1502016single nucleotide variantNM_004560.4(ROR2):c.2713G>C (p.Ala905Pro)not provided [RCV001907767]uncertain significance99172378191723781Humanname
151772799CV1504726single nucleotide variantNM_004560.4(ROR2):c.1321C>T (p.Arg441Trp)not provided [RCV002009009]uncertain significance99172660691726606Humanname
151811647CV1506764single nucleotide variantNM_004560.4(ROR2):c.1624G>A (p.Val542Met)Brachydactyly type B1 [RCV002484436]|not provided [RCV001918668]uncertain significance99172487091724870Human1name
151824174CV1506889single nucleotide variantNM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys)Brachydactyly type B1 [RCV002479497]|Inborn genetic diseases [RCV004042883]|not provided [RCV001955060]uncertain significance99172449791724497Human2name
151735816CV1506908single nucleotide variantNM_004560.4(ROR2):c.1399G>C (p.Glu467Gln)Brachydactyly type B1 [RCV002484658]|not provided [RCV001984700]uncertain significance99172509591725095Human1name
151865446CV1507869single nucleotide variantNM_004560.4(ROR2):c.1799C>T (p.Ala600Val)Brachydactyly type B1 [RCV002492150]|not provided [RCV001997672]uncertain significance99172469591724695Human1name
151876417CV1508094single nucleotide variantNM_004560.4(ROR2):c.2203C>T (p.Arg735Trp)not provided [RCV001961097]uncertain significance99172429191724291Humanname
151861214CV1511170single nucleotide variantNM_004560.4(ROR2):c.1678G>A (p.Asp560Asn)Brachydactyly type B1 [RCV005042617]|not provided [RCV001959248]uncertain significance99172481691724816Human1name
151717143CV1513201single nucleotide variantNM_004560.4(ROR2):c.1639C>A (p.Gln547Lys)Brachydactyly type B1 [RCV002482648]|not provided [RCV001890505]uncertain significance99172485591724855Human1name
152110799CV1519582single nucleotide variantNM_004560.4(ROR2):c.2694G>C (p.Gln898His)Inborn genetic diseases [RCV003250461]|ROR2-related disorder [RCV004531426]|not provided [RCV002153028]likely benign|uncertain significance99172380091723800Human2name , trait , alternate_id
152138540CV1570923single nucleotide variantNM_004560.4(ROR2):c.1703G>A (p.Arg568His)Brachydactyly type B1 [RCV005042729]|not provided [RCV002120040]likely benign|uncertain significance99172479191724791Human1name
152117722CV1601003single nucleotide variantNM_004560.4(ROR2):c.1087G>A (p.Ala363Thr)Brachydactyly type B1 [RCV005050537]|Inborn genetic diseases [RCV004045782]|not provided [RCV002097722]likely benign|uncertain significance99173100691731006Human2name
152052838CV1665094single nucleotide variantNM_004560.4(ROR2):c.1480G>A (p.Gly494Ser)Brachydactyly type B1 [RCV005042709]|not provided [RCV002089373]likely benign|uncertain significance99172501491725014Human1name
152041272CV1669844single nucleotide variantNM_004560.4(ROR2):c.2030C>T (p.Ser677Phe)not provided [RCV002224746]uncertain significance99172446491724464Humanname
152045632CV1670310single nucleotide variantNM_004560.4(ROR2):c.1510G>A (p.Val504Met)Brachydactyly type B1 [RCV002225162]uncertain significance99172498491724984Human1name
152979419CV1675552single nucleotide variantNM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr)Autosomal recessive Robinow syndrome [RCV002244142]|Brachydactyly type B1 [RCV005042752]|not provided [RCV003120847]uncertain significance99172448091724480Human2name
9683726CV168798single nucleotide variantNM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)Autosomal recessive Robinow syndrome [RCV000147390]|Brachydactyly type B1 [RCV000262682]|not provided [RCV000513925]|not specified [RCV000180606]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172368991723689Human2name
9683725CV168799single nucleotide variantNM_004560.4(ROR2):c.2455G>A (p.Val819Ile)Autosomal dominant Robinow syndrome 1 [RCV000382446]|Autosomal recessive Robinow syndrome [RCV001095340]|Brachydactyly type B1 [RCV000344414]|not provided [RCV001522558]|not specified [RCV000147389]benign|likely benign|conflicting interpretations of pathogenicity99172403991724039Human8name
9683724CV168800single nucleotide variantNM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)Autosomal recessive Robinow syndrome [RCV000398258]|Brachydactyly type B1 [RCV000337021]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147388]|not provided [RCV000180603]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172420991724209Human2name
9683721CV168803single nucleotide variantNM_004560.4(ROR2):c.2083G>A (p.Gly695Arg)Autosomal recessive Robinow syndrome [RCV000378747]|Brachydactyly type B1 [RCV000286668]|not provided [RCV000906153]|not specified [RCV000147385]benign99172441191724411Human2name
9683720CV168804single nucleotide variantNM_004560.4(ROR2):c.1970G>A (p.Arg657His)Autosomal recessive Robinow syndrome [RCV001353137]|Brachydactyly type B1 [RCV005042286]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147384]|not provided [RCV000171424]pathogenic|likely pathogenic|uncertain significance99172452491724524Human2name
9683717CV168807single nucleotide variantNM_004560.4(ROR2):c.1045C>G (p.His349Asp)Autosomal recessive Robinow syndrome [RCV000315906]|Brachydactyly type B1 [RCV000354471]|not provided [RCV000224263]|not specified [RCV000147381]benign99173104891731048Human2name
155266273CV1699717single nucleotide variantNM_004560.4(ROR2):c.1801G>A (p.Ala601Thr)Inborn genetic diseases [RCV003164422]|not provided [RCV005058232]|not specified [RCV002281819]uncertain significance99172469391724693Human1name
155734776CV1774422single nucleotide variantNM_004560.4(ROR2):c.2107G>A (p.Glu703Lys)not provided [RCV002301878]uncertain significance99172438791724387Humanname
156306573CV1877792single nucleotide variantNM_004560.4(ROR2):c.2278C>T (p.Gln760Ter)not provided [RCV003062218]pathogenic99172421691724216Humanname
156202924CV1877793single nucleotide variantNM_004560.4(ROR2):c.1742G>A (p.Arg581His)not provided [RCV003058224]uncertain significance99172475291724752Humanname
156414674CV1909026single nucleotide variantNM_004560.4(ROR2):c.1538C>T (p.Ala513Val)Inborn genetic diseases [RCV004961090]|not provided [RCV002588744]uncertain significance99172495691724956Human1name
156449215CV1944473single nucleotide variantNM_004560.4(ROR2):c.2353C>T (p.Arg785Cys)Brachydactyly type B1 [RCV005047415]|not provided [RCV003121328]likely benign|uncertain significance99172414191724141Human1name
156434300CV1946927single nucleotide variantNM_004560.4(ROR2):c.2204G>A (p.Arg735Gln)not provided [RCV003104381]|not specified [RCV004690386]uncertain significance99172429091724290Humanname
156443773CV1952080single nucleotide variantNM_004560.4(ROR2):c.2645C>G (p.Ser882Cys)ROR2-related disorder [RCV004529240]|not provided [RCV003114153]uncertain significance99172384991723849Human1name , trait , alternate_id
156389137CV1955160single nucleotide variantNM_004560.4(ROR2):c.2150G>C (p.Cys717Ser)not provided [RCV002583717]uncertain significance99172434491724344Humanname
10053020CV195675single nucleotide variantNM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)Brachydactyly type B1 [RCV005049459]|not provided [RCV000179888]conflicting interpretations of pathogenicity|uncertain significance99173103991731039Human1name
156396103CV1958967single nucleotide variantNM_004560.4(ROR2):c.1807A>G (p.Met603Val)Brachydactyly type B1 [RCV005042883]|Inborn genetic diseases [RCV004064571]|not provided [RCV002584374]uncertain significance99172468791724687Human2name
10053225CV195971single nucleotide variantNM_004560.4(ROR2):c.1339T>G (p.Ser447Ala)not provided [RCV000180263]uncertain significance99172658891726588Humanname
156079184CV1959751single nucleotide variantNM_004560.4(ROR2):c.2446C>A (p.Gln816Lys)Inborn genetic diseases [RCV004064343]|not provided [RCV002569852]uncertain significance99172404891724048Human1name
156141992CV1959752single nucleotide variantNM_004560.4(ROR2):c.2428C>A (p.Pro810Thr)Inborn genetic diseases [RCV004064344]|not provided [RCV002572604]uncertain significance99172406691724066Human1name
156384261CV1961099single nucleotide variantNM_004560.4(ROR2):c.1174C>T (p.Pro392Ser)not provided [RCV002583376]uncertain significance99173091991730919Humanname
10053430CV196255single nucleotide variantNM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)Autosomal recessive Robinow syndrome [RCV000285938]|Brachydactyly type B1 [RCV000343192]|ROR2-related disorder [RCV004537514]|not provided [RCV000180604]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172409991724099Human2name , trait , alternate_id
10053432CV196257single nucleotide variantNM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)Autosomal recessive Robinow syndrome [RCV000660425]|Brachydactyly type B1 [RCV002503700]|not provided [RCV000180607]conflicting interpretations of pathogenicity|uncertain significance99172441491724414Human2name
156111523CV1988797single nucleotide variantNM_004560.4(ROR2):c.1375C>T (p.Gln459Ter)not provided [RCV002622597]pathogenic99172655291726552Humanname
156124147CV1992835single nucleotide variantNM_004560.4(ROR2):c.2485G>A (p.Ala829Thr)not provided [RCV002623059]uncertain significance99172400991724009Humanname
155909423CV2017538single nucleotide variantNM_004560.4(ROR2):c.1165T>C (p.Cys389Arg)not provided [RCV002681605]uncertain significance99173092891730928Humanname
156020525CV2019325single nucleotide variantNM_004560.4(ROR2):c.2062T>G (p.Tyr688Asp)not provided [RCV002690977]uncertain significance99172443291724432Humanname
156146383CV2026628single nucleotide variantNM_004560.4(ROR2):c.1739A>T (p.Asp580Val)not provided [RCV002741080]uncertain significance99172475591724755Humanname
155946801CV2035935single nucleotide variantNM_004560.4(ROR2):c.1340C>T (p.Ser447Leu)not provided [RCV002775531]uncertain significance99172658791726587Humanname
156010276CV2039101single nucleotide variantNM_004560.4(ROR2):c.1016C>T (p.Pro339Leu)not provided [RCV002795062]uncertain significance99173107791731077Humanname
156281064CV2055028single nucleotide variantNM_004560.4(ROR2):c.1117G>A (p.Glu373Lys)not provided [RCV002832841]uncertain significance99173097691730976Humanname
156201663CV2092522single nucleotide variantNM_004560.4(ROR2):c.1834G>C (p.Val612Leu)not provided [RCV002917808]likely benign99172466091724660Humanname
156340308CV2106958single nucleotide variantNM_004560.4(ROR2):c.1745C>T (p.Thr582Met)Brachydactyly type B1 [RCV005045082]|Inborn genetic diseases [RCV004661510]|not provided [RCV002938861]uncertain significance99172474991724749Human2name
156378304CV2121606single nucleotide variantNM_004560.4(ROR2):c.2230A>T (p.Ser744Cys)Brachydactyly type B1 [RCV005045095]|not provided [RCV002942936]uncertain significance99172426491724264Human1name
155908435CV2130963single nucleotide variantNM_004560.4(ROR2):c.1355T>C (p.Met452Thr)not provided [RCV002967864]uncertain significance99172657291726572Humanname
156154486CV2150712single nucleotide variantNM_004560.4(ROR2):c.1422G>T (p.Arg474Ser)not provided [RCV003022970]uncertain significance99172507291725072Humanname
156148376CV2154284single nucleotide variantNM_004560.4(ROR2):c.1325G>A (p.Arg442Gln)not provided [RCV003022766]uncertain significance99172660291726602Humanname
156007725CV2175652single nucleotide variantNM_004560.4(ROR2):c.1811A>G (p.Glu604Gly)not provided [RCV003035073]uncertain significance99172468391724683Humanname
155956919CV2182522single nucleotide variantNM_004560.4(ROR2):c.1576A>G (p.Met526Val)not provided [RCV003032733]uncertain significance99172491891724918Humanname
156293663CV2183156single nucleotide variantNM_004560.4(ROR2):c.2374A>G (p.Lys792Glu)not provided [RCV003027783]uncertain significance99172412091724120Humanname
156172509CV2194257single nucleotide variantNM_004560.4(ROR2):c.2058C>A (p.Phe686Leu)Inborn genetic diseases [RCV002664810]|not provided [RCV005059198]uncertain significance99172443691724436Human1name
156231864CV2199693single nucleotide variantNM_004560.4(ROR2):c.1709C>T (p.Pro570Leu)Brachydactyly type B1 [RCV005050764]|Inborn genetic diseases [RCV002645004]|not provided [RCV005099444]uncertain significance99172478591724785Human2name
156284892CV2232752single nucleotide variantNM_004560.4(ROR2):c.2065G>A (p.Gly689Ser)Inborn genetic diseases [RCV002747340]uncertain significance99172442991724429Human1name
8597484CV22343single nucleotide variantNM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter)Brachydactyly type B1 [RCV000007727]|not provided [RCV002468964]pathogenic99172422991724229Human1name
8597485CV22344single nucleotide variantNM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)Brachydactyly type B1 [RCV000007728]pathogenic99172424891724248Human1name
8597486CV22346single nucleotide variantNM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)Autosomal recessive Robinow syndrome [RCV000007730]pathogenic99172499091724990Human1name
8597488CV22348single nucleotide variantNM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)Autosomal recessive Robinow syndrome [RCV000007732]pathogenic99172433491724334Human1name
8597490CV22351single nucleotide variantNM_004560.4(ROR2):c.2247G>A (p.Trp749Ter)Brachydactyly type B1 [RCV000007736]pathogenic99172424791724247Human1name
8597492CV22357single nucleotide variantNM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)Autosomal recessive Robinow syndrome [RCV000761457]|Brachydactyly type B1 [RCV005042009]|Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly [RCV000007742]|not provided [RCV003441709]pathogenic99172660391726603Human2name
156298826CV2248556single nucleotide variantNM_004560.4(ROR2):c.2633C>A (p.Pro878His)Inborn genetic diseases [RCV002807921]|not provided [RCV003777763]uncertain significance99172386191723861Human1name
156113591CV2263842single nucleotide variantNM_004560.4(ROR2):c.2167G>C (p.Ala723Pro)Inborn genetic diseases [RCV002848603]uncertain significance99172432791724327Human1name
156154781CV2266100single nucleotide variantNM_004560.4(ROR2):c.2110A>G (p.Met704Val)Inborn genetic diseases [RCV002827004]uncertain significance99172438491724384Human1name
156041577CV2279217single nucleotide variantNM_004560.4(ROR2):c.1681C>T (p.Leu561Phe)Inborn genetic diseases [RCV002846101]uncertain significance99172481391724813Human1name
156091377CV2300043single nucleotide variantNM_004560.4(ROR2):c.1499A>T (p.Gln500Leu)Inborn genetic diseases [RCV002869846]uncertain significance99172499591724995Human1name
156242541CV2347006single nucleotide variantNM_004560.4(ROR2):c.1523C>T (p.Thr508Met)Brachydactyly type B1 [RCV005047367]|Inborn genetic diseases [RCV002987471]|not provided [RCV005099008]uncertain significance99172497191724971Human2name
156083540CV2369034single nucleotide variantNM_004560.4(ROR2):c.1711C>T (p.His571Tyr)Brachydactyly type B1 [RCV005047372]|Inborn genetic diseases [RCV003001434]uncertain significance99172478391724783Human2name
156113010CV2387975single nucleotide variantNM_004560.4(ROR2):c.2467G>C (p.Gly823Arg)Brachydactyly type B1 [RCV005399240]|Inborn genetic diseases [RCV002739841]uncertain significance99172402791724027Human2name
156205829CV2401519single nucleotide variantNM_004560.4(ROR2):c.1856G>A (p.Arg619His)Autosomal recessive Robinow syndrome [RCV002790049]|Inborn genetic diseases [RCV003269526]likely pathogenic|uncertain significance99172463891724638Human2name
243051135CV2413773single nucleotide variantNM_004560.4(ROR2):c.1331T>G (p.Leu444Arg)not provided [RCV003130417]uncertain significance99172659691726596Humanname
329350831CV2421848single nucleotide variantNM_004560.4(ROR2):c.1133T>C (p.Phe378Ser)Autosomal recessive Robinow syndrome [RCV003159550]uncertain significance99173096091730960Human1name
11637855CV265630single nucleotide variantNM_004560.4(ROR2):c.1565G>A (p.Arg522Gln)Inborn genetic diseases [RCV002518815]|not provided [RCV000293401]conflicting interpretations of pathogenicity|uncertain significance99172492991724929Human1name
11638992CV265666single nucleotide variantNM_004560.4(ROR2):c.1736A>T (p.Asp579Val)Autosomal recessive Robinow syndrome [RCV001169179]|Brachydactyly type B1 [RCV001169178]|ROR2-related disorder [RCV004542985]|not provided [RCV000312525]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172475891724758Human2name , trait , alternate_id
11580163CV266997single nucleotide variantNM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)Autosomal recessive Robinow syndrome [RCV000324883]|Brachydactyly type B1 [RCV000377123]|Inborn genetic diseases [RCV002519120]|not provided [RCV000406751]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172482491724824Human3name
11579843CV268846single nucleotide variantNM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)Autosomal recessive Robinow syndrome [RCV000395654]|Brachydactyly type B1 [RCV000314104]|ROR2-related disorder [RCV004543050]|not provided [RCV000324852]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172473891724738Human2name , trait , alternate_id
11578330CV268870single nucleotide variantNM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)Autosomal recessive Robinow syndrome [RCV000279061]|Brachydactyly type B1 [RCV000509126]|not provided [RCV000891712]|not specified [RCV000288113]benign|likely benign|uncertain significance|not provided99172490591724905Human2name
11643758CV270521single nucleotide variantNM_004560.4(ROR2):c.1885G>A (p.Val629Met)Brachydactyly type B1 [RCV002487234]|Inborn genetic diseases [RCV005268583]|not provided [RCV000399951]uncertain significance99172460991724609Human2name
11637996CV270530single nucleotide variantNM_004560.4(ROR2):c.2240G>A (p.Arg747Gln)Brachydactyly type B1 [RCV005049514]|Inborn genetic diseases [RCV002519220]|not provided [RCV000659115]likely benign|uncertain significance99172425491724254Human2name
11641871CV270562single nucleotide variantNM_004560.4(ROR2):c.2155G>A (p.Ala719Thr)Brachydactyly type B1 [RCV002487235]|not provided [RCV000363220]uncertain significance99172433991724339Human1name
401741809CV2706373single nucleotide variantNM_004560.4(ROR2):c.2320A>C (p.Ser774Arg)Inborn genetic diseases [RCV003292684]|not provided [RCV003561279]uncertain significance99172417491724174Human1name
401776122CV2706892single nucleotide variantNM_004560.4(ROR2):c.1573G>A (p.Ala525Thr)Inborn genetic diseases [RCV003263125]uncertain significance99172492191724921Human1name
11636142CV271177single nucleotide variantNM_004560.4(ROR2):c.1153C>T (p.Arg385Cys)not provided [RCV000263816]uncertain significance99173094091730940Humanname
11580427CV271564single nucleotide variantNM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)Autosomal recessive Robinow syndrome [RCV000389667]|Brachydactyly type B1 [RCV000332907]|not provided [RCV000330356]benign|likely benign|uncertain significance99172381091723810Human2name
11643296CV273293single nucleotide variantNM_004560.4(ROR2):c.1736A>G (p.Asp579Gly)not provided [RCV000391310]uncertain significance99172475891724758Humanname
11638077CV273505single nucleotide variantNM_004560.4(ROR2):c.2489A>G (p.Tyr830Cys)Inborn genetic diseases [RCV002518078]|not provided [RCV000296968]uncertain significance99172400591724005Human1name
11579791CV273661single nucleotide variantNM_004560.4(ROR2):c.1712A>G (p.His571Arg)Autosomal recessive Robinow syndrome [RCV000365373]|Brachydactyly type B1 [RCV000312844]|Brachydactyly type B1 [RCV002480043]|not provided [RCV000907684]|not specified [RCV000273411]benign|likely benign99172478291724782Human2name
401887168CV2775735single nucleotide variantNM_004560.4(ROR2):c.2324C>G (p.Thr775Ser)Inborn genetic diseases [RCV003352261]uncertain significance99172417091724170Human1name
401881867CV2784864single nucleotide variantNM_004560.4(ROR2):c.2033A>G (p.Tyr678Cys)Inborn genetic diseases [RCV003365086]uncertain significance99172446191724461Human1name
401905242CV2796156single nucleotide variantNM_004560.4(ROR2):c.2429C>T (p.Pro810Leu)ROR2-related disorder [RCV004538980]uncertain significance99172406591724065Humanname , trait , alternate_id
401934029CV2802447single nucleotide variantNM_004560.4(ROR2):c.2632C>G (p.Pro878Ala)ROR2-related disorder [RCV004536673]|not provided [RCV005099985]uncertain significance99172386291723862Human1name , trait , alternate_id
401901763CV2804604single nucleotide variantNM_004560.4(ROR2):c.2729A>G (p.Gln910Arg)ROR2-related disorder [RCV004534413]uncertain significance99172376591723765Humanname , trait , alternate_id
401918288CV2826193single nucleotide variantNM_004560.4(ROR2):c.1079G>C (p.Gly360Ala)not provided [RCV003430128]uncertain significance99173101491731014Humanname
401918289CV2826194single nucleotide variantNM_004560.4(ROR2):c.1034C>G (p.Pro345Arg)not provided [RCV003430129]uncertain significance99173105991731059Humanname
402502213CV2869291single nucleotide variantNM_004560.4(ROR2):c.2411T>C (p.Met804Thr)Brachydactyly type B1 [RCV005051325]|not provided [RCV003546025]uncertain significance99172408391724083Human1name
405207013CV2874069single nucleotide variantNM_004560.4(ROR2):c.1366C>T (p.Leu456Phe)not provided [RCV003552070]uncertain significance99172656191726561Humanname
402505846CV2880622single nucleotide variantNM_004560.4(ROR2):c.1199G>C (p.Ser400Thr)not provided [RCV003546354]uncertain significance99172672891726728Humanname
405237643CV2881230single nucleotide variantNM_004560.4(ROR2):c.2134C>T (p.Pro712Ser)not provided [RCV003556716]uncertain significance99172436091724360Humanname
402495166CV2883700single nucleotide variantNM_004560.4(ROR2):c.1300G>C (p.Ala434Pro)not provided [RCV003573410]uncertain significance99172662791726627Humanname
405203493CV2915237single nucleotide variantNM_004560.4(ROR2):c.2597G>C (p.Ser866Thr)not provided [RCV003566205]uncertain significance99172389791723897Humanname
405200826CV2918551single nucleotide variantNM_004560.4(ROR2):c.2479G>T (p.Val827Leu)not provided [RCV003565928]uncertain significance99172401591724015Humanname
402464063CV2919951single nucleotide variantNM_004560.4(ROR2):c.2549A>T (p.Gln850Leu)not provided [RCV003568915]uncertain significance99172394591723945Humanname
402464066CV2919952single nucleotide variantNM_004560.4(ROR2):c.1318C>T (p.Gln440Ter)not provided [RCV003568916]pathogenic99172660991726609Humanname
405194831CV2925670single nucleotide variantNM_004560.4(ROR2):c.1027C>T (p.Gln343Ter)not provided [RCV003565192]pathogenic99173106691731066Humanname
402505250CV2927675single nucleotide variantNM_004560.4(ROR2):c.2135C>T (p.Pro712Leu)not provided [RCV003574391]uncertain significance99172435991724359Humanname
405123720CV2942602single nucleotide variantNM_004560.4(ROR2):c.2789A>T (p.Asp930Val)Brachydactyly type B1 [RCV005047723]|not provided [RCV003671747]uncertain significance99172370591723705Human1name
402512710CV2948494single nucleotide variantNM_004560.4(ROR2):c.1490C>A (p.Pro497Gln)not provided [RCV003662696]uncertain significance99172500491725004Humanname
405211316CV2966967single nucleotide variantNM_004560.4(ROR2):c.1853C>T (p.Thr618Ile)not provided [RCV003679435]uncertain significance99172464191724641Humanname
405214892CV2967650single nucleotide variantNM_004560.4(ROR2):c.1531G>A (p.Asp511Asn)not provided [RCV003679835]uncertain significance99172496391724963Humanname
405115312CV2985637single nucleotide variantNM_004560.4(ROR2):c.1148A>G (p.Asn383Ser)not provided [RCV003723195]uncertain significance99173094591730945Humanname
402489235CV2987628single nucleotide variantNM_004560.4(ROR2):c.1852A>G (p.Thr618Ala)not provided [RCV003713487]uncertain significance99172464291724642Humanname
405015782CV2995335single nucleotide variantNM_004560.4(ROR2):c.1436T>C (p.Leu479Pro)not provided [RCV003694380]uncertain significance99172505891725058Humanname
405178245CV3027460single nucleotide variantNM_004560.4(ROR2):c.2693A>G (p.Gln898Arg)not provided [RCV003705234]uncertain significance99172380191723801Humanname
405234842CV3040708single nucleotide variantNM_004560.4(ROR2):c.2213G>A (p.Arg738His)Brachydactyly type B1 [RCV005047793]|Inborn genetic diseases [RCV004373912]|not provided [RCV003712151]uncertain significance99172428191724281Human2name
405242993CV3043876single nucleotide variantNM_004560.4(ROR2):c.2191G>A (p.Glu731Lys)not provided [RCV003719631]uncertain significance99172430391724303Humanname
405225474CV3058462single nucleotide variantNM_004560.4(ROR2):c.1841A>G (p.Lys614Arg)not provided [RCV003733966]uncertain significance99172465391724653Humanname
405162356CV3062697single nucleotide variantNM_004560.4(ROR2):c.2116C>T (p.Arg706Trp)Inborn genetic diseases [RCV004673964]|not provided [RCV003727189]uncertain significance99172437891724378Human1name
405153381CV3068642single nucleotide variantNM_004560.4(ROR2):c.1646T>C (p.Leu549Pro)not provided [RCV003726579]uncertain significance99172484891724848Humanname
405227403CV3069597single nucleotide variantNM_004560.4(ROR2):c.1831G>A (p.Val611Met)Inborn genetic diseases [RCV004953488]|not provided [RCV003734289]uncertain significance99172466391724663Human1name
405236056CV3079617single nucleotide variantNM_004560.4(ROR2):c.2273C>T (p.Ser758Leu)not provided [RCV003735920]uncertain significance99172422191724221Humanname
11602419CV308875single nucleotide variantNM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)Autosomal recessive Robinow syndrome [RCV000290524]|Brachydactyly type B1 [RCV000397545]|not provided [RCV000731519]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172504691725046Human2name
11603649CV308887single nucleotide variantNM_004560.4(ROR2):c.1234A>G (p.Ile412Val)Autosomal recessive Robinow syndrome [RCV000401531]|Brachydactyly type B1 [RCV000302280]uncertain significance99172669391726693Human2name
405093931CV3118861single nucleotide variantNM_004560.4(ROR2):c.2747A>C (p.Glu916Ala)Brachydactyly type B1 [RCV005040531]|not provided [RCV003811312]uncertain significance99172374791723747Human1name
405179109CV3119735single nucleotide variantNM_004560.4(ROR2):c.1823G>A (p.Ser608Asn)not provided [RCV003819828]uncertain significance99172467191724671Humanname
405092656CV3122657single nucleotide variantNM_004560.4(ROR2):c.1706C>T (p.Ser569Leu)not provided [RCV003811222]uncertain significance99172478891724788Humanname
402522620CV3127014single nucleotide variantNM_004560.4(ROR2):c.1261C>G (p.Leu421Val)not provided [RCV003824932]benign99172666691726666Humanname
404978420CV3127407single nucleotide variantNM_004560.4(ROR2):c.1720G>A (p.Val574Met)Brachydactyly type B1 [RCV005040539]|not provided [RCV003825631]uncertain significance99172477491724774Human1name
405122280CV3131675single nucleotide variantNM_004560.4(ROR2):c.2806G>A (p.Glu936Lys)not provided [RCV003837539]benign99172368891723688Humanname
11601439CV313554single nucleotide variantNM_004560.4(ROR2):c.1820C>T (p.Ser607Phe)Autosomal recessive Robinow syndrome [RCV000335096]|Brachydactyly type B1 [RCV000282386]|not provided [RCV003422376]uncertain significance99172467491724674Human2name
11599360CV313555single nucleotide variantNM_004560.4(ROR2):c.1642C>T (p.Pro548Ser)Autosomal recessive Robinow syndrome [RCV000265108]|Brachydactyly type B1 [RCV000319060]|not provided [RCV000961952]benign|likely benign99172485291724852Human2name
11604314CV313565single nucleotide variantNM_004560.4(ROR2):c.1307C>T (p.Ala436Val)Autosomal recessive Robinow syndrome [RCV000360660]|Brachydactyly type B1 [RCV000308020]|Brachydactyly type B1 [RCV005049531]|Inborn genetic diseases [RCV002524607]|not provided [RCV002058818]benign|likely benign|uncertain significance99172662091726620Human3name
405215582CV3143280single nucleotide variantNM_004560.4(ROR2):c.1495G>C (p.Glu499Gln)not provided [RCV003846444]uncertain significance99172499991724999Humanname
405205727CV3144272single nucleotide variantNM_004560.4(ROR2):c.1369A>G (p.Ile457Val)Brachydactyly type B1 [RCV005051402]|not provided [RCV003845062]uncertain significance99172655891726558Human1name
405137486CV3144714single nucleotide variantNM_004560.4(ROR2):c.1794G>C (p.Gln598His)not provided [RCV003855231]uncertain significance99172470091724700Humanname
405194056CV3146076single nucleotide variantNM_004560.4(ROR2):c.2731G>A (p.Glu911Lys)not provided [RCV003843623]uncertain significance99172376391723763Humanname
405206838CV3149302single nucleotide variantNM_004560.4(ROR2):c.2477C>A (p.Pro826Gln)not provided [RCV003845212]uncertain significance99172401791724017Humanname
405155628CV3159348single nucleotide variantNM_004560.4(ROR2):c.1286G>A (p.Arg429Gln)not provided [RCV003856613]uncertain significance99172664191726641Humanname
405185671CV3160161single nucleotide variantNM_004560.4(ROR2):c.1802C>G (p.Ala601Gly)not provided [RCV003859216]uncertain significance99172469291724692Humanname
405235666CV3166309single nucleotide variantNM_004560.4(ROR2):c.1316C>T (p.Pro439Leu)Brachydactyly type B1 [RCV005040572]|not provided [RCV003853758]uncertain significance99172661191726611Human1name
402480583CV3170581single nucleotide variantNM_004560.4(ROR2):c.1777G>A (p.Val593Met)Brachydactyly type B1 [RCV005040594]|Inborn genetic diseases [RCV004953614]|not provided [RCV003875783]uncertain significance99172471791724717Human2name
404999036CV3173110single nucleotide variantNM_004560.4(ROR2):c.2350G>A (p.Ala784Thr)not provided [RCV003882393]uncertain significance99172414491724144Humanname
405240477CV3176747single nucleotide variantNM_004560.4(ROR2):c.2627C>T (p.Thr876Met)Brachydactyly type B1 [RCV005040589]|not provided [RCV003867185]uncertain significance99172386791723867Human1name
11602715CV319319single nucleotide variantNM_004560.4(ROR2):c.2649G>A (p.Met883Ile)Autosomal recessive Robinow syndrome [RCV000331525]|Brachydactyly type B1 [RCV000293100]|not provided [RCV001861351]likely benign|uncertain significance99172384591723845Human2name
11603771CV319327single nucleotide variantNM_004560.4(ROR2):c.2314T>A (p.Ser772Thr)Autosomal recessive Robinow syndrome [RCV000303094]|Brachydactyly type B1 [RCV000397085]uncertain significance99172418091724180Human2name
11600718CV319343single nucleotide variantNM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)Autosomal recessive Robinow syndrome [RCV000276157]|Brachydactyly type B1 [RCV000314957]|Brachydactyly type B1 [RCV005049530]|ROR2-related disorder [RCV004530491]|Short stature [RCV001310262]|not provided [RCV002523819]benign|likely benign|uncertain significance99172428291724282Human4name , trait , alternate_id
11608217CV319934single nucleotide variantNM_004560.4(ROR2):c.1720G>T (p.Val574Leu)Autosomal recessive Robinow syndrome [RCV000352520]|Brachydactyly type B1 [RCV000400229]|not provided [RCV002523820]benign|likely benign|uncertain significance99172477491724774Human2name
11605266CV319938single nucleotide variantNM_004560.4(ROR2):c.1552C>T (p.Arg518Trp)Autosomal recessive Robinow syndrome [RCV000317822]|Brachydactyly type B1 [RCV000388602]|Brachydactyly type B1 [RCV002481260]|not provided [RCV005243219]likely benign|uncertain significance99172494291724942Human2name
405718687CV3227748single nucleotide variantNM_004560.4(ROR2):c.1086C>G (p.His362Gln)Autosomal recessive Robinow syndrome [RCV003992089]uncertain significance99173100791731007Human1name
405718755CV3309786single nucleotide variantNM_004560.4(ROR2):c.1362G>A (p.Met454Ile)Inborn genetic diseases [RCV004449534]uncertain significance99172656591726565Human1name
405718775CV3309788single nucleotide variantNM_004560.4(ROR2):c.1752G>C (p.Lys584Asn)Inborn genetic diseases [RCV004449536]uncertain significance99172474291724742Human1name
405718785CV3309789single nucleotide variantNM_004560.4(ROR2):c.1763A>T (p.Glu588Val)Inborn genetic diseases [RCV004449537]uncertain significance99172473191724731Human1name
405718806CV3309791single nucleotide variantNM_004560.4(ROR2):c.2290G>A (p.Ala764Thr)Brachydactyly type B1 [RCV005051438]|Inborn genetic diseases [RCV004449539]uncertain significance99172420491724204Human2name
405718810CV3309792single nucleotide variantNM_004560.4(ROR2):c.2381C>T (p.Pro794Leu)Brachydactyly type B1 [RCV005051439]|Inborn genetic diseases [RCV004449540]uncertain significance99172411391724113Human2name
405718828CV3309794single nucleotide variantNM_004560.4(ROR2):c.2447A>G (p.Gln816Arg)Inborn genetic diseases [RCV004449542]uncertain significance99172404791724047Human1name
405718835CV3309795single nucleotide variantNM_004560.4(ROR2):c.2785T>C (p.Cys929Arg)Inborn genetic diseases [RCV004449543]uncertain significance99172370991723709Human1name
405855142CV3395740single nucleotide variantNM_004560.4(ROR2):c.2358C>G (p.Tyr786Ter)Autosomal recessive Robinow syndrome [RCV004556003]uncertain significance99172413691724136Human1name
407426261CV3409795single nucleotide variantNM_004560.4(ROR2):c.1906C>G (p.Leu636Val)not provided [RCV004585727]uncertain significance99172458891724588Humanname
408391395CV3523174single nucleotide variantNM_004560.4(ROR2):c.1037A>T (p.His346Leu)not provided [RCV004770546]uncertain significance99173105691731056Humanname
596930950CV3529792single nucleotide variantNM_004560.4(ROR2):c.1415C>T (p.Ala472Val)not provided [RCV004780842]uncertain significance99172507991725079Humanname
596941245CV3542455single nucleotide variantNM_004560.4(ROR2):c.2027G>A (p.Trp676Ter)Cleft lip [RCV004797701]uncertain significance99172446791724467Human2name
596942846CV3542685single nucleotide variantNM_004560.4(ROR2):c.2152C>T (p.Pro718Ser)not provided [RCV004798269]uncertain significance99172434291724342Humanname
597627570CV3586940single nucleotide variantNM_004560.4(ROR2):c.2477C>T (p.Pro826Leu)Brachydactyly type B1 [RCV005040812]|Inborn genetic diseases [RCV004960268]uncertain significance99172401791724017Human2name
597719075CV3586942single nucleotide variantNM_004560.4(ROR2):c.1588C>T (p.Arg530Trp)Inborn genetic diseases [RCV004960269]uncertain significance99172490691724906Human1name
597719085CV3586944single nucleotide variantNM_004560.4(ROR2):c.2035G>A (p.Gly679Ser)Inborn genetic diseases [RCV004960271]|not provided [RCV005061549]uncertain significance99172445991724459Human1name
597719090CV3586945single nucleotide variantNM_004560.4(ROR2):c.1514C>T (p.Ala505Val)Inborn genetic diseases [RCV004960272]uncertain significance99172498091724980Human1name
597719097CV3586946single nucleotide variantNM_004560.4(ROR2):c.2777T>G (p.Leu926Arg)Inborn genetic diseases [RCV004960273]uncertain significance99172371791723717Human1name
597627574CV3586947single nucleotide variantNM_004560.4(ROR2):c.2509T>G (p.Phe837Val)Brachydactyly type B1 [RCV005040813]|Inborn genetic diseases [RCV004960274]uncertain significance99172398591723985Human2name
597710789CV3719658single nucleotide variantNM_004560.4(ROR2):c.2788G>A (p.Asp930Asn)Brachydactyly type B1 [RCV005048675]uncertain significance99172370691723706Human1name
597716270CV3719659single nucleotide variantNM_004560.4(ROR2):c.2773C>G (p.Leu925Val)Brachydactyly type B1 [RCV005049210]uncertain significance99172372191723721Human1name
597710798CV3719660single nucleotide variantNM_004560.4(ROR2):c.2688C>G (p.Asp896Glu)Brachydactyly type B1 [RCV005048676]|not provided [RCV005063344]uncertain significance99172380691723806Human1name
597716279CV3719661single nucleotide variantNM_004560.4(ROR2):c.2410A>G (p.Met804Val)Brachydactyly type B1 [RCV005049211]uncertain significance99172408491724084Human1name
597710815CV3719662single nucleotide variantNM_004560.4(ROR2):c.2407C>G (p.Pro803Ala)Brachydactyly type B1 [RCV005048678]uncertain significance99172408791724087Human1name
597710842CV3719664single nucleotide variantNM_004560.4(ROR2):c.2333T>C (p.Val778Ala)Brachydactyly type B1 [RCV005048681]uncertain significance99172416191724161Human1name
597710851CV3719665single nucleotide variantNM_004560.4(ROR2):c.2312G>A (p.Ser771Asn)Brachydactyly type B1 [RCV005048682]uncertain significance99172418291724182Human1name
597710860CV3719666single nucleotide variantNM_004560.4(ROR2):c.2249G>T (p.Gly750Val)Brachydactyly type B1 [RCV005048683]uncertain significance99172424591724245Human1name
597710868CV3719667single nucleotide variantNM_004560.4(ROR2):c.2242G>C (p.Ala748Pro)Brachydactyly type B1 [RCV005048684]uncertain significance99172425291724252Human1name
597710877CV3719669single nucleotide variantNM_004560.4(ROR2):c.2179G>C (p.Glu727Gln)Brachydactyly type B1 [RCV005048685]uncertain significance99172431591724315Human1name
597710884CV3719670single nucleotide variantNM_004560.4(ROR2):c.2158T>C (p.Trp720Arg)Brachydactyly type B1 [RCV005048686]uncertain significance99172433691724336Human1name
597710892CV3719671single nucleotide variantNM_004560.4(ROR2):c.2129T>C (p.Val710Ala)Brachydactyly type B1 [RCV005048687]uncertain significance99172436591724365Human1name
597710903CV3719672single nucleotide variantNM_004560.4(ROR2):c.2127G>C (p.Gln709His)Brachydactyly type B1 [RCV005048688]uncertain significance99172436791724367Human1name
597710911CV3719673single nucleotide variantNM_004560.4(ROR2):c.2093A>G (p.Asn698Ser)Brachydactyly type B1 [RCV005048689]uncertain significance99172440191724401Human1name
597716290CV3719674single nucleotide variantNM_004560.4(ROR2):c.2018C>G (p.Ser673Ter)Brachydactyly type B1 [RCV005049212]likely pathogenic99172447691724476Human1name
597710928CV3719675single nucleotide variantNM_004560.4(ROR2):c.1994T>C (p.Met665Thr)Brachydactyly type B1 [RCV005048691]uncertain significance99172450091724500Human1name
597710937CV3719677single nucleotide variantNM_004560.4(ROR2):c.1964C>T (p.Pro655Leu)Brachydactyly type B1 [RCV005048692]uncertain significance99172453091724530Human1name
597710955CV3719679single nucleotide variantNM_004560.4(ROR2):c.1927G>C (p.Ala643Pro)Brachydactyly type B1 [RCV005048694]uncertain significance99172456791724567Human1name
597716299CV3719680single nucleotide variantNM_004560.4(ROR2):c.1919T>C (p.Val640Ala)Brachydactyly type B1 [RCV005049213]|not provided [RCV005105334]uncertain significance99172457591724575Human1name
597710964CV3719681single nucleotide variantNM_004560.4(ROR2):c.1859A>G (p.Asn620Ser)Brachydactyly type B1 [RCV005048695]uncertain significance99172463591724635Human1name
597710983CV3719685single nucleotide variantNM_004560.4(ROR2):c.1798G>A (p.Ala600Thr)Brachydactyly type B1 [RCV005048697]uncertain significance99172469691724696Human1name
597710992CV3719686single nucleotide variantNM_004560.4(ROR2):c.1768C>T (p.Pro590Ser)Brachydactyly type B1 [RCV005048698]uncertain significance99172472691724726Human1name
597710999CV3719687single nucleotide variantNM_004560.4(ROR2):c.1741C>T (p.Arg581Cys)Brachydactyly type B1 [RCV005048699]uncertain significance99172475391724753Human1name
597716320CV3719688single nucleotide variantNM_004560.4(ROR2):c.1699A>T (p.Met567Leu)Brachydactyly type B1 [RCV005049215]|not provided [RCV005105335]uncertain significance99172479591724795Human1name
597711008CV3719689single nucleotide variantNM_004560.4(ROR2):c.1624G>T (p.Val542Leu)Brachydactyly type B1 [RCV005048700]uncertain significance99172487091724870Human1name
597711019CV3719690single nucleotide variantNM_004560.4(ROR2):c.1573G>T (p.Ala525Ser)Brachydactyly type B1 [RCV005048701]uncertain significance99172492191724921Human1name
597716328CV3719691single nucleotide variantNM_004560.4(ROR2):c.1483C>T (p.Pro495Ser)Brachydactyly type B1 [RCV005049216]uncertain significance99172501191725011Human1name
597716338CV3719692single nucleotide variantNM_004560.4(ROR2):c.1481G>A (p.Gly494Asp)Brachydactyly type B1 [RCV005049217]uncertain significance99172501391725013Human1name
597711027CV3719694single nucleotide variantNM_004560.4(ROR2):c.1447C>G (p.Arg483Gly)Brachydactyly type B1 [RCV005048702]uncertain significance99172504791725047Human1name
597711038CV3719696single nucleotide variantNM_004560.4(ROR2):c.1363C>T (p.Pro455Ser)Brachydactyly type B1 [RCV005048703]uncertain significance99172656491726564Human1name
597711044CV3719697single nucleotide variantNM_004560.4(ROR2):c.1352A>G (p.Asp451Gly)Brachydactyly type B1 [RCV005048704]uncertain significance99172657591726575Human1name
597711054CV3719698single nucleotide variantNM_004560.4(ROR2):c.1300G>T (p.Ala434Ser)Brachydactyly type B1 [RCV005048705]uncertain significance99172662791726627Human1name
597711064CV3719700single nucleotide variantNM_004560.4(ROR2):c.1238C>T (p.Ala413Val)Brachydactyly type B1 [RCV005048706]|not provided [RCV005105336]uncertain significance99172668991726689Human1name
597711072CV3719701single nucleotide variantNM_004560.4(ROR2):c.1237G>A (p.Ala413Thr)Brachydactyly type B1 [RCV005048707]uncertain significance99172669091726690Human1name
597711093CV3719703single nucleotide variantNM_004560.4(ROR2):c.1156A>G (p.Met386Val)Brachydactyly type B1 [RCV005048709]uncertain significance99173093791730937Human1name
597711102CV3719704single nucleotide variantNM_004560.4(ROR2):c.1150G>A (p.Val384Ile)Brachydactyly type B1 [RCV005048710]uncertain significance99173094391730943Human1name
597717630CV3719706single nucleotide variantNM_004560.4(ROR2):c.1109G>A (p.Gly370Asp)Brachydactyly type B1 [RCV005049219]uncertain significance99173098491730984Human1name
597711136CV3719709single nucleotide variantNM_004560.4(ROR2):c.1091A>G (p.Tyr364Cys)Brachydactyly type B1 [RCV005048714]uncertain significance99173100291731002Human1name
597711146CV3719711single nucleotide variantNM_004560.4(ROR2):c.1055G>A (p.Ser352Asn)Brachydactyly type B1 [RCV005048715]uncertain significance99173103891731038Human1name
597888309CV3739244single nucleotide variantNM_004560.4(ROR2):c.2210C>T (p.Pro737Leu)not provided [RCV005070791]uncertain significance99172428491724284Humanname
597850026CV3746835single nucleotide variantNM_004560.4(ROR2):c.1802C>T (p.Ala601Val)not provided [RCV005060462]uncertain significance99172469291724692Humanname
597876321CV3747848single nucleotide variantNM_004560.4(ROR2):c.1522A>G (p.Thr508Ala)Inborn genetic diseases [RCV005269112]|not provided [RCV005069339]uncertain significance99172497291724972Human1name
597838696CV3758266single nucleotide variantNM_004560.4(ROR2):c.2179G>A (p.Glu727Lys)not provided [RCV005086101]uncertain significance99172431591724315Humanname
597865461CV3767404single nucleotide variantNM_004560.4(ROR2):c.2641A>G (p.Thr881Ala)not provided [RCV005106740]uncertain significance99172385391723853Humanname
597903943CV3784437single nucleotide variantNM_004560.4(ROR2):c.1666T>C (p.Cys556Arg)not provided [RCV005127489]uncertain significance99172482891724828Humanname
597879023CV3786823single nucleotide variantNM_004560.4(ROR2):c.1255G>T (p.Ala419Ser)not provided [RCV005123899]uncertain significance99172667291726672Humanname
597952430CV3795128single nucleotide variantNM_004560.4(ROR2):c.1501A>G (p.Thr501Ala)not provided [RCV005136340]uncertain significance99172499391724993Humanname
597954073CV3795693single nucleotide variantNM_004560.4(ROR2):c.1609G>A (p.Val537Ile)not provided [RCV005136703]uncertain significance99172488591724885Humanname
597944444CV3812496single nucleotide variantNM_004560.4(ROR2):c.1544G>A (p.Gly515Glu)not provided [RCV005159706]uncertain significance99172495091724950Humanname
597932171CV3827213single nucleotide variantNM_004560.4(ROR2):c.1313C>T (p.Thr438Ile)not provided [RCV005157226]uncertain significance99172661491726614Humanname
597845080CV3827566single nucleotide variantNM_004560.4(ROR2):c.2402T>G (p.Phe801Cys)not provided [RCV005172837]uncertain significance99172409291724092Humanname
597834358CV3827807single nucleotide variantNM_004560.4(ROR2):c.1037A>G (p.His346Arg)not provided [RCV005170897]uncertain significance99173105691731056Humanname
597970362CV3832448single nucleotide variantNM_004560.4(ROR2):c.1034C>T (p.Pro345Leu)not provided [RCV005166527]uncertain significance99173105991731059Humanname
597970468CV3832492single nucleotide variantNM_004560.4(ROR2):c.1995G>A (p.Met665Ile)not provided [RCV005166571]uncertain significance99172449991724499Humanname
597971681CV3833144single nucleotide variantNM_004560.4(ROR2):c.2204G>T (p.Arg735Leu)not provided [RCV005167041]uncertain significance99172429091724290Humanname
597954472CV3844428single nucleotide variantNM_004560.4(ROR2):c.1578G>T (p.Met526Ile)not provided [RCV005191101]uncertain significance99172491691724916Humanname
597898497CV3854463single nucleotide variantNM_004560.4(ROR2):c.1357G>T (p.Glu453Ter)not provided [RCV005201570]pathogenic99172657091726570Humanname
597936123CV3863712single nucleotide variantNM_004560.4(ROR2):c.1613G>T (p.Cys538Phe)not provided [RCV005207525]uncertain significance99172488191724881Humanname
598207355CV3906120single nucleotide variantNM_004560.4(ROR2):c.2543C>T (p.Pro848Leu)Inborn genetic diseases [RCV005270030]uncertain significance99172395191723951Human1name
598219662CV3906122single nucleotide variantNM_004560.4(ROR2):c.1702C>T (p.Arg568Cys)Inborn genetic diseases [RCV005272105]uncertain significance99172479291724792Human1name
598219657CV3906123single nucleotide variantNM_004560.4(ROR2):c.1999G>A (p.Gly667Ser)Inborn genetic diseases [RCV005272106]uncertain significance99172449591724495Human1name
598219653CV3906124single nucleotide variantNM_004560.4(ROR2):c.2702C>T (p.Pro901Leu)Inborn genetic diseases [RCV005272107]uncertain significance99172379291723792Human1name
13490002CV444526single nucleotide variantNM_004560.4(ROR2):c.1105G>A (p.Gly369Arg)Brachydactyly type B1 [RCV002490926]|not provided [RCV000524072]uncertain significance99173098891730988Human1name
13522764CV491325single nucleotide variantNM_004560.4(ROR2):c.1490C>T (p.Pro497Leu)Brachydactyly type B1 [RCV002497269]|not provided [RCV000592155]uncertain significance99172500491725004Human1name
13518865CV491333single nucleotide variantNM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)Autosomal recessive Robinow syndrome [RCV001168499]|Brachydactyly type B1 [RCV001168500]|Inborn genetic diseases [RCV002532489]|not provided [RCV000597656]|not specified [RCV005418232]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172491191724911Human3name
13519509CV491703single nucleotide variantNM_004560.4(ROR2):c.2461G>A (p.Val821Ile)ROR2-related disorder [RCV004543363]|not provided [RCV000597971]likely benign|conflicting interpretations of pathogenicity|uncertain significance99172403391724033Human1name , trait , alternate_id
13705322CV536352single nucleotide variantNM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)Autosomal recessive Robinow syndrome [RCV002226720]|not provided [RCV000657780]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance99172425591724255Human1name
13705489CV536780single nucleotide variantNM_004560.4(ROR2):c.1868T>C (p.Val623Ala)not provided [RCV000658037]likely pathogenic99172462691724626Humanname
13706433CV537533single nucleotide variantNM_004560.4(ROR2):c.1322G>A (p.Arg441Gln)Brachydactyly type B1 [RCV002485502]|Inborn genetic diseases [RCV003243244]|not provided [RCV000659116]uncertain significance99172660591726605Human2name
13831628CV582125single nucleotide variantNM_004560.4(ROR2):c.1400A>G (p.Glu467Gly)not provided [RCV000722307]uncertain significance99172509491725094Humanname
13832102CV582593single nucleotide variantNM_004560.4(ROR2):c.1412C>T (p.Ser471Phe)Brachydactyly type B1 [RCV002493298]|not provided [RCV000722785]uncertain significance99172508291725082Human1name
13832834CV584058single nucleotide variantNM_004560.4(ROR2):c.1940A>G (p.Lys647Arg)Brachydactyly type B1 [RCV002499339]|Inborn genetic diseases [RCV003279032]|not provided [RCV000727912]uncertain significance99172455491724554Human2name
13835318CV586575single nucleotide variantNM_004560.4(ROR2):c.1966A>G (p.Ile656Val)Brachydactyly type B1 [RCV005046989]|not provided [RCV000731077]uncertain significance99172452891724528Human1name
13836512CV587787single nucleotide variantNM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)Brachydactyly type B1 [RCV005047000]|Fetal akinesia deformation sequence 1 [RCV000855500]|Short stature [RCV001310261]|not provided [RCV000903196]|not specified [RCV000732649]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172481991724819Human6name
13837552CV588842single nucleotide variantNM_004560.4(ROR2):c.2582C>T (p.Ser861Leu)not provided [RCV000734005]uncertain significance99172391291723912Humanname
15201704CV723654single nucleotide variantNM_004560.4(ROR2):c.2620G>A (p.Val874Ile)not provided [RCV000891267]benign99172387491723874Humanname
15197169CV723656single nucleotide variantNM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)Brachydactyly type B1 [RCV005047143]|Inborn genetic diseases [RCV005268803]|not provided [RCV000889980]|not specified [RCV001818658]likely benign|uncertain significance99172405091724050Human2name
15169632CV737230single nucleotide variantNM_004560.4(ROR2):c.2109G>T (p.Glu703Asp)not provided [RCV000905098]benign99172438591724385Humanname
15103904CV751811single nucleotide variantNM_004560.4(ROR2):c.2399A>C (p.Gln800Pro)not provided [RCV000915253]benign99172409591724095Humanname
25318593CV805624duplicationNM_004560.4(ROR2):c.2264dup (p.Tyr755Ter)not provided [RCV001008721]likely pathogenic99172422991724230Humanname
26918722CV836283single nucleotide variantNM_004560.4(ROR2):c.2550G>C (p.Gln850His)Inborn genetic diseases [RCV004031346]|not provided [RCV001044130]uncertain significance99172394491723944Human1name
26889669CV836284single nucleotide variantNM_004560.4(ROR2):c.1154G>A (p.Arg385His)Brachydactyly type B1 [RCV002489654]|not provided [RCV001058431]uncertain significance99173093991730939Human1name
8633434CV88649single nucleotide variantNM_004560.3(ROR2):c.2377G>T (p.Ala793Ser)Malignant melanoma [RCV000068742]not provided99172411791724117Humanname
28876470CV902476single nucleotide variantNM_004560.4(ROR2):c.2782G>A (p.Asp928Asn)Autosomal recessive Robinow syndrome [RCV001166155]|Brachydactyly type B1 [RCV001166154]uncertain significance99172371291723712Human2name
28878090CV902477single nucleotide variantNM_004560.4(ROR2):c.2458C>G (p.Pro820Ala)Autosomal recessive Robinow syndrome [RCV001166643]|Brachydactyly type B1 [RCV001166642]uncertain significance99172403691724036Human2name
28886713CV902479single nucleotide variantNM_004560.4(ROR2):c.2242G>T (p.Ala748Ser)Autosomal recessive Robinow syndrome [RCV001169141]|Brachydactyly type B1 [RCV001169140]uncertain significance99172425291724252Human2name
28878324CV902482single nucleotide variantNM_004560.4(ROR2):c.1995G>C (p.Met665Ile)Autosomal recessive Robinow syndrome [RCV001166717]|Brachydactyly type B1 [RCV001166716]benign|uncertain significance99172449991724499Human2name
28884262CV902484single nucleotide variantNM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn)Autosomal recessive Robinow syndrome [RCV001168442]|Brachydactyly type B1 [RCV001168443]uncertain significance99172462491724624Human2name
28887055CV902488single nucleotide variantNM_004560.4(ROR2):c.1347C>G (p.Ser449Arg)Autosomal recessive Robinow syndrome [RCV001169237]|Brachydactyly type B1 [RCV001169236]uncertain significance99172658091726580Human2name
28877020CV902490single nucleotide variantNM_004560.4(ROR2):c.1300G>A (p.Ala434Thr)Autosomal recessive Robinow syndrome [RCV001166323]|Brachydactyly type B1 [RCV001166322]|Brachydactyly type B1 [RCV005039988]|not provided [RCV005093694]uncertain significance99172662791726627Human2name
28877022CV902491single nucleotide variantNM_004560.4(ROR2):c.1279A>G (p.Met427Val)Autosomal recessive Robinow syndrome [RCV001166325]|Brachydactyly type B1 [RCV001166324]|not provided [RCV001859078]uncertain significance99172664891726648Human2name
28878771CV902492single nucleotide variantNM_004560.4(ROR2):c.1103C>G (p.Pro368Arg)Autosomal recessive Robinow syndrome [RCV001166840]|Brachydactyly type B1 [RCV001166839]|not provided [RCV005056976]uncertain significance99173099091730990Human2name
126909914CV971519single nucleotide variantNM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)Autosomal recessive Robinow syndrome [RCV001353140]likely pathogenic99172427991724279Human1name
126909913CV971520single nucleotide variantNM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)Autosomal recessive Robinow syndrome [RCV001353139]|not provided [RCV005057179]likely pathogenic|uncertain significance99172428791724287Human1name
126909911CV971521single nucleotide variantNM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)Autosomal recessive Robinow syndrome [RCV001353138]likely pathogenic99172442091724420Human1name
126909910CV971522single nucleotide variantNM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)Autosomal recessive Robinow syndrome [RCV001353136]likely pathogenic99172463991724639Human1name
126909909CV971523single nucleotide variantNM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)Autosomal recessive Robinow syndrome [RCV001353135]likely pathogenic99172497891724978Human1name
126909894CV971524single nucleotide variantNM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)Autosomal recessive Robinow syndrome [RCV001353124]|Brachydactyly type B1 [RCV003314001]|not provided [RCV003433099]pathogenic99172673891726738Human2name
126909893CV971525single nucleotide variantNM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)Autosomal recessive Robinow syndrome [RCV001353123]likely pathogenic99173099391730993Human1name
126909907CV971526single nucleotide variantNM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)Autosomal recessive Robinow syndrome [RCV001353134]|Brachydactyly type B1 [RCV002499451]likely pathogenic99173099791730997Human2name
126756148CV993531single nucleotide variantNM_004560.4(ROR2):c.2206C>T (p.Arg736Trp)Brachydactyly type B1 [RCV002486145]|Inborn genetic diseases [RCV002541867]|not provided [RCV001298507]uncertain significance99172428891724288Human2name
13520555CV495438duplicationNM_004560.4(ROR2):c.566_569dup (p.Ile191fs)not provided [RCV000598728]pathogenic99173744391737444Humanname
151809106CV1384104microsatelliteNM_004560.4(ROR2):c.2555CTC[1] (p.Pro853del)not provided [RCV001878080]uncertain significance99172393491723936Humanname
150404458CV1178828deletionNM_004560.4(ROR2):c.1353_1360del (p.Met452fs)Autosomal recessive Robinow syndrome [RCV001548753]pathogenic99172656791726574Human1name
156416745CV1898072microsatelliteNM_004560.4(ROR2):c.2794_2795del (p.Leu932fs)Brachydactyly type B1 [RCV005045311]|not provided [RCV002610340]uncertain significance99172369991723700Humanname
8559825CV22350deletionNM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)Brachydactyly type B1 [RCV000007734]|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals [RCV000007735]pathogenic99172660291726606Human2name
8559826CV22352deletionNM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs)Autosomal recessive Robinow syndrome [RCV000007737]pathogenic99172455191724557Human1name
596928533CV3541527deletionNM_004560.4(ROR2):c.1397_1398del (p.Lys466fs)Brachydactyly type B1 [RCV004797399]likely pathogenic99172509691725097Human1name
151836879CV1467959insertionNM_004560.4(ROR2):c.1399_1400insT (p.Glu467fs)not provided [RCV001956272]pathogenic99172509491725095Humanname
405181285CV2914138deletionNM_004560.4(ROR2):c.1603_1605del (p.Asn535del)not provided [RCV003563993]uncertain significance99172488991724891Humanname
151823961CV1350760indelNM_004560.4(ROR2):c.769_770delinsTT (p.Glu257Leu)not provided [RCV001919846]uncertain significance99173328991733290Humanname
15040405CV615893indelNM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs)Autosomal recessive Robinow syndrome [RCV000855448]likely pathogenic99172492591724929Humanname
151751609CV1407035duplicationNM_004560.4(ROR2):c.1639_1677dup (p.Gln547_Gly559dup)not provided [RCV002023433]uncertain significance99172481691724817Humanname
151722045CV1489674deletionNM_004560.4(ROR2):c.2443_2517del (p.Pro815_Pro839del)not provided [RCV001891249]uncertain significance99172397791724051Humanname
597972334CV3790243deletionNM_004560.4(ROR2):c.2448_2453del (p.Gln816_Tyr818delinsHis)not provided [RCV005142666]uncertain significance99172404191724046Humanname
597711173CV3719715indelNM_004560.4(ROR2):c.873_874delinsTT (p.Met291_Pro292delinsIleSer)Brachydactyly type B1 [RCV005048718]uncertain significance99173318591733186Humanname
11634323CV266826duplicationNM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer)not provided [RCV000395342]pathogenic99172434291724343Humanname