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Variants search result for All species
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1002 records found for search term Vcan
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11600369CV304858single nucleotide variantNM_004385.5(VCAN):c.*2C>TVCAN-related disorder [RCV003897796]|Vitreoretinopathy [RCV000365697]|Wagner syndrome [RCV000273462]likely benign|uncertain significance58358043683580436Human2name , alternate_id
11648731CV298218single nucleotide variantNM_004385.5(VCAN):c.-75A>GVitreoretinopathy [RCV000283321]|Wagner syndrome [RCV000347771]uncertain significance58347195583471955Human2name
11649454CV304785single nucleotide variantNM_004385.5(VCAN):c.-89T>CVitreoretinopathy [RCV000287267]|Wagner syndrome [RCV000323635]uncertain significance58347194183471941Human2name
11602844CV304859single nucleotide variantNM_004385.5(VCAN):c.*31A>GVitreoretinopathy [RCV000348997]|Wagner syndrome [RCV000294178]|not provided [RCV004705398]benign|likely benign58358046583580465Human2name
11598769CV305115single nucleotide variantNM_004385.5(VCAN):c.*18A>GVitreoretinopathy [RCV000260127]|Wagner syndrome [RCV000333951]benign|likely benign58358045283580452Human2name
28891710CV894774single nucleotide variantNM_004385.5(VCAN):c.-87A>GVitreoretinopathy [RCV001152884]|Wagner syndrome [RCV001152883]uncertain significance58347194383471943Human2name
28900226CV894825single nucleotide variantNM_004385.5(VCAN):c.*89A>GVitreoretinopathy [RCV001156163]|Wagner syndrome [RCV001156162]benign58358052383580523Human2name
28900230CV894826single nucleotide variantNM_004385.5(VCAN):c.*93G>AVitreoretinopathy [RCV001156165]|Wagner syndrome [RCV001156164]uncertain significance58358052783580527Human2name
156382169CV1978961single nucleotide variantNM_004385.5(VCAN):c.71-6C>Tnot provided [RCV002604044]likely benign58349009283490092Humanname
156131879CV2112955single nucleotide variantNM_004385.5(VCAN):c.71-4C>Gnot provided [RCV002914584]likely benign58349009483490094Humanname
11647244CV298213single nucleotide variantNM_004385.5(VCAN):c.-135G>AVitreoretinopathy [RCV000330676]|Wagner syndrome [RCV000275515]uncertain significance58347189583471895Human2name
11582813CV298214single nucleotide variantNM_004385.5(VCAN):c.-119A>CVitreoretinopathy [RCV000317909]|Wagner syndrome [RCV000262452]benign|likely benign58347191183471911Human2name
11588790CV298299single nucleotide variantNM_004385.5(VCAN):c.*218G>AVitreoretinopathy [RCV000402090]|Wagner syndrome [RCV000305755]benign|likely benign58358065283580652Human2name
11584936CV298302single nucleotide variantNM_004385.5(VCAN):c.*707G>AVitreoretinopathy [RCV000331978]|Wagner syndrome [RCV000277396]likely benign|uncertain significance58358114183581141Human2name
11652638CV300523single nucleotide variantNM_004385.5(VCAN):c.-259C>TVitreoretinopathy [RCV000370336]|Wagner syndrome [RCV000306346]uncertain significance58347177183471771Human2name
11653240CV304783single nucleotide variantNM_004385.4(VCAN):c.-334C>TVitreoretinopathy [RCV000364496]|Wagner syndrome [RCV000309926]uncertain significance58347169683471696Human2name
11644817CV304861single nucleotide variantNM_004385.5(VCAN):c.*446T>CVitreoretinopathy [RCV000262088]|Wagner syndrome [RCV000298582]uncertain significance58358088083580880Human2name
11600363CV304864single nucleotide variantNM_004385.5(VCAN):c.*730A>GVitreoretinopathy [RCV000383135]|Wagner syndrome [RCV000273425]|not provided [RCV001683409]benign58358116483581164Human2name
11601737CV304865single nucleotide variantNM_004385.5(VCAN):c.*816C>AVitreoretinopathy [RCV000339790]|Wagner syndrome [RCV000284737]|not provided [RCV003422342]benign|likely benign58358125083581250Human3name
11601737CV304865single nucleotide variantNM_004385.5(VCAN):c.*816C>AVitreoretinopathy [RCV000339790]|Wagner syndrome [RCV000284737]|not provided [RCV003422342]benign|likely benign58358125083581251Human3name
11601283CV304875single nucleotide variantNM_004385.5(VCAN):c.*835G>AVitreoretinopathy [RCV000401758]|Wagner syndrome [RCV000281190]likely benign58358126983581269Human2name
11601163CV304882single nucleotide variantNM_004385.5(VCAN):c.*905A>GVitreoretinopathy [RCV000319147]|Wagner syndrome [RCV000280227]|not provided [RCV004695886]uncertain significance58358133983581339Human2name
11650875CV304885deletionNM_004385.5(VCAN):c.*909delVitreoretinopathy [RCV000295419]|Wagner syndrome [RCV000335239]uncertain significance58358134383581343Human2name
11604155CV304886single nucleotide variantNM_004385.5(VCAN):c.*961T>CVitreoretinopathy [RCV000365234]|Wagner syndrome [RCV000306855]benign|likely benign58358139583581395Human2name
11649994CV305116single nucleotide variantNM_004385.5(VCAN):c.*160A>GVitreoretinopathy [RCV000290433]|Wagner syndrome [RCV000345345]uncertain significance58358059483580594Human2name
11604531CV305119single nucleotide variantNM_004385.5(VCAN):c.*910A>CVitreoretinopathy [RCV000350247]|Wagner syndrome [RCV000310570]benign58358134483581344Human2name
28904072CV894827single nucleotide variantNM_004385.5(VCAN):c.*625G>AVitreoretinopathy [RCV001157845]|Wagner syndrome [RCV001157844]uncertain significance58358105983581059Human2name
28890227CV894828single nucleotide variantNM_004385.5(VCAN):c.*672A>GVitreoretinopathy [RCV001157846]|Wagner syndrome [RCV001152369]benign58358110683581106Human2name
28890232CV894829single nucleotide variantNM_004385.5(VCAN):c.*819T>CVitreoretinopathy [RCV001153651]|Wagner syndrome [RCV001152370]uncertain significance58358125383581253Human2name
127317594CV1137098single nucleotide variantNM_004385.5(VCAN):c.71-13C>Anot provided [RCV001483195]likely benign58349008583490085Humanname
127299353CV1155200single nucleotide variantNM_004385.5(VCAN):c.71-18A>Gnot provided [RCV001513653]benign58349008083490080Humanname
152168412CV1525093single nucleotide variantNM_004385.5(VCAN):c.70+12A>Gnot provided [RCV002182436]likely benign58348360083483600Humanname
152063313CV1554352single nucleotide variantNM_004385.5(VCAN):c.70+17T>Cnot provided [RCV002190796]likely benign58348360583483605Humanname
152078669CV1602169single nucleotide variantNM_004385.5(VCAN):c.621-5C>Tnot provided [RCV002149020]likely benign58349379983493799Humanname
152100514CV1606733single nucleotide variantNM_004385.5(VCAN):c.621-7T>Cnot provided [RCV002195487]likely benign58349379783493797Humanname
156206147CV2000623duplicationNM_004385.5(VCAN):c.749-5dupnot provided [RCV002666673]benign58351209083512091Humanname
156370027CV2171013single nucleotide variantNM_004385.5(VCAN):c.70+15A>Tnot provided [RCV003032155]likely benign58348360383483603Humanname
156016319CV2177514single nucleotide variantNM_004385.5(VCAN):c.749-9T>Cnot provided [RCV003035503]likely benign58351209483512094Humanname
402517083CV2936474single nucleotide variantNM_004385.5(VCAN):c.70+16A>Gnot provided [RCV003663032]likely benign58348360483483604Humanname
11583509CV298304single nucleotide variantNM_004385.5(VCAN):c.*1031T>CVitreoretinopathy [RCV000301952]|Wagner syndrome [RCV000267030]benign|uncertain significance58358146583581465Human2name
11644769CV298305single nucleotide variantNM_004385.5(VCAN):c.*1091C>TVitreoretinopathy [RCV000356729]|Wagner syndrome [RCV000261845]uncertain significance58358152583581525Human2name
11584779CV298306single nucleotide variantNM_004385.5(VCAN):c.*1603T>CVitreoretinopathy [RCV000386262]|Wagner syndrome [RCV000276459]benign58358203783582037Human2name
11587796CV298310single nucleotide variantNM_004385.5(VCAN):c.*1678G>TVitreoretinopathy [RCV000390299]|Wagner syndrome [RCV000297927]benign58358211283582112Human2name
11588209CV300623deletionNM_004385.5(VCAN):c.*1548delVitreoretinopathy [RCV000356009]|Wagner syndrome [RCV000301098]benign58358197683581976Human2name
11582651CV300624single nucleotide variantNM_004385.5(VCAN):c.*1601T>AVitreoretinopathy [RCV000370873]|Wagner syndrome [RCV000261209]benign58358203583582035Human2name
11600864CV304893single nucleotide variantNM_004385.5(VCAN):c.*1266G>CVitreoretinopathy [RCV000332490]|Wagner syndrome [RCV000277322]benign|likely benign58358170083581700Human2name
11650386CV304899single nucleotide variantNM_004385.5(VCAN):c.*1408G>AVitreoretinopathy [RCV000292136]|Wagner syndrome [RCV000347131]uncertain significance58358184283581842Human2name
11603863CV304902single nucleotide variantNM_004385.5(VCAN):c.*1436C>TVitreoretinopathy [RCV000340396]|Wagner syndrome [RCV000304187]benign58358187083581870Human2name
11602175CV304905single nucleotide variantNM_004385.5(VCAN):c.*1652G>CVitreoretinopathy [RCV000379514]|Wagner syndrome [RCV000288496]benign|likely benign58358208683582086Human2name
11602231CV305120single nucleotide variantNM_004385.5(VCAN):c.*1429A>GVitreoretinopathy [RCV000383078]|Wagner syndrome [RCV000289067]benign58358186383581863Human2name
11600385CV305122single nucleotide variantNM_004385.5(VCAN):c.*1614G>TVitreoretinopathy [RCV000382750]|Wagner syndrome [RCV000273184]benign|likely benign58358204883582048Human2name
11601772CV305123single nucleotide variantNM_004385.5(VCAN):c.*1671C>TVitreoretinopathy [RCV000285073]|Wagner syndrome [RCV000337797]uncertain significance58358210583582105Human2name
405004980CV3120855single nucleotide variantNM_004385.5(VCAN):c.71-13C>Tnot provided [RCV003828458]likely benign58349008583490085Humanname
28900423CV894830single nucleotide variantNM_004385.5(VCAN):c.*1081C>TVitreoretinopathy [RCV001156255]|Wagner syndrome [RCV001156254]benign58358151583581515Human2name
28904272CV894831single nucleotide variantNM_004385.5(VCAN):c.*1296A>GVitreoretinopathy [RCV001157928]|Wagner syndrome [RCV001157927]benign58358173083581730Human2name
28893941CV894832single nucleotide variantNM_004385.5(VCAN):c.*1717C>AVitreoretinopathy [RCV001153737]|Wagner syndrome [RCV001156353]benign58358215183582151Human2name
28900662CV894833single nucleotide variantNM_004385.5(VCAN):c.*1717C>TVitreoretinopathy [RCV001156355]|Wagner syndrome [RCV001156354]uncertain significance58358215183582151Human2name
28900665CV894834single nucleotide variantNM_004385.5(VCAN):c.*1753C>TVitreoretinopathy [RCV001156357]|Wagner syndrome [RCV001156356]uncertain significance58358218783582187Human2name
126920996CV1043773single nucleotide variantNM_004385.5(VCAN):c.9493+5G>Tnot provided [RCV001363213]uncertain significance58354808983548089Humanname
127275571CV1073009single nucleotide variantNM_004385.5(VCAN):c.749-12T>Cnot provided [RCV001406771]likely benign58351209183512091Humanname
127332552CV1137100deletionNM_004385.5(VCAN):c.749-14delnot provided [RCV001489547]likely benign58351208883512088Humanname
127335835CV1137130single nucleotide variantNM_004385.5(VCAN):c.9494-5C>Tnot provided [RCV001491744]likely benign58355335983553359Humanname
127290395CV1155216duplicationNM_004385.5(VCAN):c.4004-4dupnot provided [RCV001509812]benign58353699683536997Humanname
150434644CV1215941single nucleotide variantNM_004385.5(VCAN):c.71-176G>Tnot provided [RCV001609129]benign58348992283489922Humanname
151818479CV1449833single nucleotide variantNM_004385.5(VCAN):c.4004-3C>Anot provided [RCV001878979]uncertain significance58353700483537004Humanname
151724296CV1459258single nucleotide variantNM_004385.5(VCAN):c.9266-6T>Cnot provided [RCV002020587]likely benign|uncertain significance58354553183545531Humanname
152077801CV1601955single nucleotide variantNM_004385.5(VCAN):c.4004-9T>Anot provided [RCV002148920]likely benign58353699883536998Humanname
152125197CV1640552single nucleotide variantNM_004385.5(VCAN):c.9881-6C>Tnot provided [RCV002176090]likely benign58357997483579974Humanname
156343890CV1970401single nucleotide variantNM_004385.5(VCAN):c.4003+7C>Anot provided [RCV002601427]likely benign58352231683522316Humanname
156341273CV1984914single nucleotide variantNM_004385.5(VCAN):c.9379+6A>Tnot provided [RCV002631443]uncertain significance58354565683545656Humanname
156372000CV1993569single nucleotide variantNM_004385.5(VCAN):c.748+20A>Gnot provided [RCV002652974]likely benign58349395183493951Humanname
156085158CV2008730single nucleotide variantNM_004385.5(VCAN):c.9379+6A>Gnot provided [RCV002706120]uncertain significance58354565683545656Humanname
156274528CV2014835single nucleotide variantNM_004385.5(VCAN):c.620+16G>Anot provided [RCV002715094]likely benign58349373683493736Humanname
155904050CV2031303single nucleotide variantNM_004385.5(VCAN):c.9881-3T>Cnot provided [RCV002726359]uncertain significance58357997783579977Humanname
155940976CV2054971single nucleotide variantNM_004385.5(VCAN):c.4004-3C>Gnot provided [RCV002815694]uncertain significance58353700483537004Humanname
156279153CV2074553single nucleotide variantNM_004385.5(VCAN):c.9880+7A>Gnot provided [RCV002856320]likely benign58357256783572567Humanname
10766738CV216061single nucleotide variantNM_004385.5(VCAN):c.4004-6T>AWagner syndrome [RCV000203372]pathogenic|not provided58353700183537001Human1name
10766712CV216062single nucleotide variantNM_004385.5(VCAN):c.4004-1G>TWagner syndrome [RCV000203314]|not provided [RCV003556260]pathogenic|not provided58353700683537006Human1name
10766739CV216063single nucleotide variantNM_004385.5(VCAN):c.9265+1G>TWagner syndrome [RCV000203374]pathogenic|likely pathogenic58354226983542269Human1name
11549516CV252036single nucleotide variantNM_004385.5(VCAN):c.9379+7T>CVitreoretinopathy [RCV000382639]|Wagner syndrome [RCV000271739]|not provided [RCV001516996]|not specified [RCV000250519]benign58354565783545657Human2name
401906126CV2802449single nucleotide variantNM_004385.5(VCAN):c.9493+5G>AVCAN-related disorder [RCV003421068]|not provided [RCV005062918]uncertain significance58354808983548089Human1name , alternate_id
405032492CV2922603single nucleotide variantNM_004385.5(VCAN):c.9265+2T>Cnot provided [RCV003578464]pathogenic58354227083542270Humanname
405233226CV2965463single nucleotide variantNM_004385.5(VCAN):c.9380-9T>Cnot provided [RCV003682601]likely benign58354796283547962Humanname
11587300CV298298single nucleotide variantNM_004385.5(VCAN):c.9380-4T>AVCAN-related disorder [RCV003957827]|Vitreoretinopathy [RCV000293922]|Wagner syndrome [RCV000329145]|not provided [RCV001515745]benign|likely benign58354796783547967Human2name , alternate_id
405120107CV2993971single nucleotide variantNM_004385.5(VCAN):c.9265+5G>Anot provided [RCV003723795]uncertain significance58354227383542273Humanname
404994025CV2996021single nucleotide variantNM_004385.5(VCAN):c.9265+3A>Gnot provided [RCV003692565]uncertain significance58354227183542271Humanname
405021508CV3139245single nucleotide variantNM_004385.5(VCAN):c.9881-6C>Anot provided [RCV003829888]likely benign58357997483579974Humanname
405237632CV3165345single nucleotide variantNM_004385.5(VCAN):c.445+20C>Anot provided [RCV003866547]likely benign58349049283490492Humanname
8600596CV32533single nucleotide variantNM_004385.5(VCAN):c.4004-2A>GInborn genetic diseases [RCV001267039]|Retinal dystrophy [RCV001074432]|Wagner syndrome [RCV000019046]|not provided [RCV001851934]pathogenic58353700583537005Human4name
8601142CV34257single nucleotide variantNM_004385.5(VCAN):c.4004-1G>AStickler syndrome [RCV004556050]|Wagner syndrome [RCV000020591]pathogenic58353700683537006Human2name
8601143CV34258single nucleotide variantNM_004385.5(VCAN):c.4004-5T>AWagner syndrome [RCV000020592]pathogenic58353700283537002Human1name
8601144CV34259single nucleotide variantNM_004385.5(VCAN):c.4004-5T>CWagner syndrome [RCV000020593]|not provided [RCV001723583]pathogenic58353700283537002Human1name
8601145CV34260single nucleotide variantNM_004385.5(VCAN):c.9265+1G>AWagner syndrome [RCV000020594]|not provided [RCV001222448]pathogenic58354226983542269Human1name
597908558CV3781683single nucleotide variantNM_004385.5(VCAN):c.4003+5G>Anot provided [RCV005128371]uncertain significance58352231483522314Humanname
597868742CV3803380single nucleotide variantNM_004385.5(VCAN):c.9266-5G>Anot provided [RCV005147977]uncertain significance58354553283545532Humanname
8604986CV50315single nucleotide variantNM_004385.5(VCAN):c.4004-2A>TWagner syndrome [RCV000034807]|not provided [RCV002513342]pathogenic58353700583537005Human1name
8604987CV50316single nucleotide variantNM_004385.5(VCAN):c.9265+2T>AWagner syndrome [RCV000034808]pathogenic58354227083542270Human1name
8604988CV50317single nucleotide variantNM_004385.5(VCAN):c.4004-1G>CWagner syndrome [RCV000034809]pathogenic58353700683537006Human1name
38464558CV801381single nucleotide variantNM_004385.5(VCAN):c.4004-2A>CWagner syndrome [RCV001199596]|not provided [RCV001860545]pathogenic58353700583537005Human1name
26897848CV851300single nucleotide variantNM_004385.5(VCAN):c.9265+1G>Cnot provided [RCV001066142]pathogenic58354226983542269Humanname
28893182CV896140single nucleotide variantNM_004385.5(VCAN):c.9265+4A>GVitreoretinopathy [RCV001153440]|Wagner syndrome [RCV001153439]uncertain significance58354227283542272Human2name
28889923CV896142single nucleotide variantNM_004385.5(VCAN):c.9494-9T>GVitreoretinopathy [RCV001152261]|Wagner syndrome [RCV001157753]uncertain significance58355335583553355Human2name
38470841CV959780single nucleotide variantNM_004385.5(VCAN):c.9736-6T>Gnot provided [RCV001231092]likely benign|uncertain significance58357241083572410Humanname
127290122CV1155215single nucleotide variantNM_004385.5(VCAN):c.4003+16C>Gnot provided [RCV001509658]benign58352232583522325Humanname
127312110CV1155222single nucleotide variantNM_004385.5(VCAN):c.9652+20G>Cnot provided [RCV001518842]benign58355354283553542Humanname
150437338CV1262289single nucleotide variantNM_004385.5(VCAN):c.9736-62G>Anot provided [RCV001678647]benign58357235483572354Humanname
150458040CV1278711single nucleotide variantNM_004385.5(VCAN):c.9494-63T>Anot provided [RCV001709327]benign58355330183553301Humanname
152059228CV1536043single nucleotide variantNM_004385.5(VCAN):c.9652+19C>Tnot provided [RCV002146578]likely benign58355354183553541Humanname
152039457CV1538477single nucleotide variantNM_004385.5(VCAN):c.9379+15G>Anot provided [RCV002206118]likely benign58354566583545665Humanname
152170818CV1592595single nucleotide variantNM_004385.5(VCAN):c.9736-16C>Tnot provided [RCV002161897]likely benign58357240083572400Humanname
152171047CV1612736single nucleotide variantNM_004385.5(VCAN):c.9493+14C>Anot provided [RCV002183367]likely benign58354809883548098Humanname
152089320CV1633978single nucleotide variantNM_004385.5(VCAN):c.1042+16C>Anot provided [RCV002194089]likely benign58351241283512412Humanname
152160120CV1642379single nucleotide variantNM_004385.5(VCAN):c.9379+11A>Tnot provided [RCV002103640]likely benign58354566183545661Humanname
155904811CV1975923single nucleotide variantNM_004385.5(VCAN):c.10063+8G>Cnot provided [RCV002613610]likely benign58358017083580170Humanname
156217399CV2028727single nucleotide variantNM_004385.5(VCAN):c.9880+12C>Tnot provided [RCV002712005]likely benign58357257283572572Humanname
156339851CV2055301duplicationNM_004385.5(VCAN):c.1042+21dupnot provided [RCV002811139]benign58351241283512413Humanname
155981326CV2090470single nucleotide variantNM_004385.5(VCAN):c.9494-12G>Anot provided [RCV002881948]likely benign58355335283553352Humanname
156201202CV2110057single nucleotide variantNM_004385.5(VCAN):c.9494-15C>Tnot provided [RCV002957385]likely benign58355334983553349Humanname
156113283CV2117411single nucleotide variantNM_004385.5(VCAN):c.9881-16A>Gnot provided [RCV002953206]likely benign58357996483579964Humanname
156068948CV2147938single nucleotide variantNM_004385.5(VCAN):c.1042+15C>Tnot provided [RCV003037506]likely benign58351241183512411Humanname
156396976CV2178300single nucleotide variantNM_004385.5(VCAN):c.9881-18C>Tnot provided [RCV003051938]likely benign58357996283579962Humanname
405172537CV2897697single nucleotide variantNM_004385.5(VCAN):c.9493+14C>Tnot provided [RCV003563242]likely benign58354809883548098Humanname
11585675CV300534single nucleotide variantNM_004385.5(VCAN):c.1043-10A>GVitreoretinopathy [RCV000282548]|Wagner syndrome [RCV000337530]|not provided [RCV001523649]benign58351933983519339Human23name
402524386CV3011574single nucleotide variantNM_004385.5(VCAN):c.4003+13T>Anot provided [RCV003716673]likely benign58352232283522322Humanname
11603946CV304848single nucleotide variantNM_004385.5(VCAN):c.9880+11C>AVitreoretinopathy [RCV000340065]|Wagner syndrome [RCV000304948]|not provided [RCV005090575]likely benign58357257183572571Human2name
405113625CV3133771single nucleotide variantNM_004385.5(VCAN):c.9493+18A>Gnot provided [RCV003836565]likely benign58354810283548102Humanname
405242080CV3173249single nucleotide variantNM_004385.5(VCAN):c.4003+15T>Cnot provided [RCV003867534]likely benign58352232483522324Humanname
597845847CV3736341single nucleotide variantNM_004385.5(VCAN):c.9265+15T>Cnot provided [RCV005065689]likely benign58354228383542283Humanname
597968928CV3791153single nucleotide variantNM_004385.5(VCAN):c.9493+11T>Cnot provided [RCV005141185]likely benign58354809583548095Humanname
597909603CV3830045single nucleotide variantNM_004385.5(VCAN):c.9265+16T>Anot provided [RCV005182614]likely benign58354228483542284Humanname
598123630CV3890416single nucleotide variantNM_004385.5(VCAN):c.10063+1G>Anot provided [RCV005250935]uncertain significance58358016383580163Humanname
28893186CV896141single nucleotide variantNM_004385.5(VCAN):c.9266-14C>TVitreoretinopathy [RCV001156032]|Wagner syndrome [RCV001153441]uncertain significance58354552383545523Human2name
150434153CV1230717single nucleotide variantNM_004385.5(VCAN):c.9653-144A>Gnot provided [RCV001643663]benign58355481283554812Humanname
150431708CV1236498single nucleotide variantNM_004385.5(VCAN):c.9266-129T>Anot provided [RCV001641902]benign58354540883545408Humanname
150462388CV1273003single nucleotide variantNM_004385.5(VCAN):c.9653-188C>Tnot provided [RCV001693760]benign58355476883554768Humanname
150457763CV1278672single nucleotide variantNM_004385.5(VCAN):c.9380-181G>Anot provided [RCV001709288]benign58354779083547790Human1name
152127605CV1534058single nucleotide variantNM_004385.5(VCAN):c.10064-15T>Cnot provided [RCV002136521]likely benign58358029283580292Humanname
155933459CV2153264single nucleotide variantNM_004385.5(VCAN):c.10064-14T>Gnot provided [RCV003013770]likely benign58358029383580293Humanname
405213579CV3169889single nucleotide variantNM_004385.5(VCAN):c.10063+19A>Gnot provided [RCV003862493]likely benign58358018183580181Humanname
150435800CV1233961deletionNM_004385.5(VCAN):c.*900_*908delnot provided [RCV001644088]benign58358131883581326Humanname
150483901CV1280308deletionNM_004385.5(VCAN):c.*901_*908delnot provided [RCV001715266]benign58358131883581325Humanname
11648580CV298303deletionNM_004385.5(VCAN):c.*905_*912delVitreoretinopathy [RCV000323651]|Wagner syndrome [RCV000282769]uncertain significance58358133683581343Human2name
11588311CV300619deletionNM_004385.5(VCAN):c.*232_*235delVitreoretinopathy [RCV000301855]|Wagner syndrome [RCV000356652]likely benign58358066383580666Human2name
11646593CV300620deletionNM_004385.5(VCAN):c.*883_*885delVitreoretinopathy [RCV000366489]|Wagner syndrome [RCV000271908]uncertain significance58358131783581319Human2name
11654140CV304881deletionNM_004385.5(VCAN):c.*881_*883delVitreoretinopathy [RCV000402370]|Wagner syndrome [RCV000315109]uncertain significance58358131583581317Human2name
11649753CV305117duplicationNM_004385.5(VCAN):c.*813_*816dupVitreoretinopathy [RCV000288965]|Wagner syndrome [RCV000325254]|not provided [RCV003430915]benign|uncertain significance58358124683581247Human2name
151775750CV1450456deletionNM_004385.5(VCAN):c.9494-9_9494-6delnot provided [RCV001915416]likely benign|uncertain significance58355335383553356Humanname
152106023CV1572644single nucleotide variantNM_004385.5(VCAN):c.60G>A (p.Ala20=)not provided [RCV002152409]likely benign58348357883483578Humanname
155969435CV2077115deletionNM_004385.5(VCAN):c.4004-350_4461delnot provided [RCV002863242]likely pathogenic58353665583537462Humanname
405176856CV2915804inversionNM_004385.5(VCAN):c.9379+7_9379+8invnot provided [RCV003563613]uncertain significance58354565783545658Humanname
405008443CV2926891single nucleotide variantNM_004385.5(VCAN):c.54C>A (p.Thr18=)not provided [RCV003576528]likely benign58348357283483572Humanname
11646046CV300622indelNM_004385.5(VCAN):c.*898_*905delinsGVitreoretinopathy [RCV000268633]|Wagner syndrome [RCV000327160]uncertain significance58358133283581339Humanname
405197030CV3138777single nucleotide variantNM_004385.5(VCAN):c.93G>A (p.Pro31=)not provided [RCV003821593]likely benign58349012083490120Humanname
15160641CV735241single nucleotide variantNM_004385.5(VCAN):c.61C>T (p.Leu21=)not provided [RCV000903185]likely benign58348357983483579Humanname
127327376CV1116132single nucleotide variantNM_004385.5(VCAN):c.186C>A (p.Leu62=)not provided [RCV001469059]likely benign58349021383490213Humanname
127321615CV1116135deletionNM_004385.5(VCAN):c.1042+8_1042+11delnot provided [RCV001467325]likely benign58351240283512405Humanname
151800676CV1442192single nucleotide variantNM_004385.5(VCAN):c.14T>C (p.Ile5Thr)not provided [RCV002011538]uncertain significance58348353283483532Humanname
151760455CV1497223single nucleotide variantNM_004385.5(VCAN):c.261A>G (p.Gln87=)not provided [RCV001987206]likely benign|uncertain significance58349028883490288Humanname
152027562CV1520876single nucleotide variantNM_004385.5(VCAN):c.123C>T (p.Ser41=)not provided [RCV002085170]likely benign58349015083490150Humanname
152174377CV1622417single nucleotide variantNM_004385.5(VCAN):c.144G>A (p.Thr48=)not provided [RCV002184488]likely benign58349017183490171Humanname
152081324CV1645051single nucleotide variantNM_004385.5(VCAN):c.120C>T (p.Val40=)not provided [RCV002149348]likely benign58349014783490147Humanname
152037189CV1646326single nucleotide variantNM_004385.5(VCAN):c.159A>G (p.Pro53=)not provided [RCV002205790]likely benign58349018683490186Humanname
156148301CV2037492single nucleotide variantNM_004385.5(VCAN):c.124C>T (p.Leu42=)not provided [RCV002786767]likely benign58349015183490151Humanname
156152701CV2098536single nucleotide variantNM_004385.5(VCAN):c.183T>C (p.Phe61=)not provided [RCV002890707]likely benign58349021083490210Humanname
156163168CV2174209duplicationNM_004385.5(VCAN):c.1042+9_1042+10dupnot provided [RCV003056981]likely benign58351240383512404Humanname
402492881CV3008400single nucleotide variantNM_004385.5(VCAN):c.111T>G (p.Ser37=)not provided [RCV003687708]likely benign58349013883490138Humanname
11653928CV304787single nucleotide variantNM_004385.5(VCAN):c.297G>C (p.Gly99=)Vitreoretinopathy [RCV000404443]|Wagner syndrome [RCV000314125]uncertain significance58349032483490324Human2name
28895162CV894775single nucleotide variantNM_004385.5(VCAN):c.249C>A (p.Val83=)Vitreoretinopathy [RCV001155003]|Wagner syndrome [RCV001154168]|not provided [RCV002070883]likely benign58349027683490276Human2name
127247061CV1073007single nucleotide variantNM_004385.5(VCAN):c.660T>C (p.Asp220=)not provided [RCV001399077]likely benign58349384383493843Humanname
127244764CV1073008single nucleotide variantNM_004385.5(VCAN):c.717C>T (p.Tyr239=)not provided [RCV001416389]likely benign58349390083493900Humanname
127231322CV1073010single nucleotide variantNM_004385.5(VCAN):c.867C>T (p.Asn289=)not provided [RCV001395242]likely benign58351222183512221Humanname
127278432CV1073011single nucleotide variantNM_004385.5(VCAN):c.897G>A (p.Leu299=)not provided [RCV001408467]likely benign58351225183512251Humanname
127258716CV1094599single nucleotide variantNM_004385.5(VCAN):c.405G>A (p.Gly135=)VCAN-related disorder [RCV003965808]|not provided [RCV001427418]likely benign58349043283490432Human1name , alternate_id
127274527CV1094600single nucleotide variantNM_004385.5(VCAN):c.579T>C (p.Phe193=)not provided [RCV001442886]likely benign58349367983493679Humanname
127257153CV1094601single nucleotide variantNM_004385.5(VCAN):c.855G>T (p.Ala285=)not provided [RCV001427022]likely benign58351220983512209Humanname
127334974CV1116133single nucleotide variantNM_004385.5(VCAN):c.312C>T (p.Pro104=)not provided [RCV001473952]likely benign58349033983490339Humanname
127295490CV1116134single nucleotide variantNM_004385.5(VCAN):c.435G>T (p.Leu145=)not provided [RCV001477106]likely benign58349046283490462Humanname
127307675CV1137099single nucleotide variantNM_004385.5(VCAN):c.522C>T (p.Asp174=)not provided [RCV001500554]likely benign58349362283493622Humanname
127302317CV1137101single nucleotide variantNM_004385.5(VCAN):c.945T>C (p.Cys315=)not provided [RCV001478914]likely benign58351229983512299Humanname
127315046CV1155201single nucleotide variantNM_004385.5(VCAN):c.849C>T (p.Leu283=)VCAN-related disorder [RCV003931118]|not provided [RCV001519856]benign|likely benign58351220383512203Human1name , alternate_id
150454357CV1265990duplicationNM_004385.5(VCAN):c.9380-78_9380-76dupnot provided [RCV001692567]benign58354789283547893Humanname
150545936CV1297049single nucleotide variantNM_004385.5(VCAN):c.46A>G (p.Ile16Val)not provided [RCV001763340]uncertain significance58348356483483564Humanname
151790495CV1389126single nucleotide variantNM_004385.5(VCAN):c.77T>C (p.Val26Ala)not provided [RCV002010653]uncertain significance58349010483490104Humanname
152055124CV1564497single nucleotide variantNM_004385.5(VCAN):c.955C>T (p.Leu319=)not provided [RCV002146132]likely benign58351230983512309Humanname
152077070CV1564617single nucleotide variantNM_004385.5(VCAN):c.786C>G (p.Thr262=)not provided [RCV002192552]likely benign58351214083512140Humanname
152086275CV1589738single nucleotide variantNM_004385.5(VCAN):c.849C>G (p.Leu283=)not provided [RCV002193678]likely benign58351220383512203Humanname
152155963CV1615676single nucleotide variantNM_004385.5(VCAN):c.615T>C (p.Thr205=)not provided [RCV002158847]likely benign58349371583493715Humanname
152176587CV1631609single nucleotide variantNM_004385.5(VCAN):c.744G>C (p.Leu248=)not provided [RCV002164733]likely benign58349392783493927Humanname
152104592CV1633798single nucleotide variantNM_004385.5(VCAN):c.321C>T (p.Pro107=)not provided [RCV002195986]likely benign58349034883490348Humanname
152162210CV1635704single nucleotide variantNM_004385.5(VCAN):c.468G>A (p.Ala156=)not provided [RCV002203630]likely benign58349356883493568Humanname
152097785CV1639733single nucleotide variantNM_004385.5(VCAN):c.882C>T (p.Cys294=)not provided [RCV002078583]likely benign58351223683512236Humanname
152067441CV1647180single nucleotide variantNM_004385.5(VCAN):c.888C>T (p.Tyr296=)not provided [RCV002129160]likely benign58351224283512242Humanname
9693444CV178143single nucleotide variantNM_004385.5(VCAN):c.927T>C (p.Thr309=)Vitreoretinopathy [RCV001154281]|Wagner syndrome [RCV001154280]|not provided [RCV000154115]benign|conflicting interpretations of pathogenicity|uncertain significance58351228183512281Human2name
156097566CV1981051single nucleotide variantNM_004385.5(VCAN):c.402C>T (p.Tyr134=)not provided [RCV002622091]likely benign58349042983490429Humanname
156098369CV1981105single nucleotide variantNM_004385.5(VCAN):c.88C>T (p.Pro30Ser)not provided [RCV002622119]uncertain significance58349011583490115Humanname
155993137CV1990604single nucleotide variantNM_004385.5(VCAN):c.900G>A (p.Ser300=)not provided [RCV002618108]likely benign58351225483512254Humanname
156166906CV1993331single nucleotide variantNM_004385.5(VCAN):c.492T>C (p.Asn164=)not provided [RCV002642605]likely benign58349359283493592Humanname
156338628CV1997415single nucleotide variantNM_004385.5(VCAN):c.891G>A (p.Gly297=)VCAN-related disorder [RCV003971351]|not provided [RCV002650199]likely benign58351224583512245Human1name , alternate_id
156324704CV2032328single nucleotide variantNM_004385.5(VCAN):c.825C>A (p.Ala275=)not provided [RCV002717334]likely benign58351217983512179Humanname
155986628CV2056123single nucleotide variantNM_004385.5(VCAN):c.933C>T (p.Ala311=)not provided [RCV002819010]likely benign58351228783512287Humanname
155987977CV2070504deletionNM_004385.5(VCAN):c.221del (p.Asn74fs)not provided [RCV002842831]uncertain significance58349024483490244Humanname
156253924CV2082719single nucleotide variantNM_004385.5(VCAN):c.834A>G (p.Ala278=)not provided [RCV002877038]likely benign58351218883512188Humanname
155905903CV2084188single nucleotide variantNM_004385.5(VCAN):c.864G>A (p.Arg288=)not provided [RCV002858152]likely benign58351221883512218Humanname
156365620CV2130602single nucleotide variantNM_004385.5(VCAN):c.363G>A (p.Leu121=)not provided [RCV002967279]likely benign58349039083490390Humanname
155954464CV2161564single nucleotide variantNM_004385.5(VCAN):c.954T>A (p.Gly318=)not provided [RCV003032607]likely benign58351230883512308Humanname
156302512CV2166603single nucleotide variantNM_004385.5(VCAN):c.780A>G (p.Lys260=)not provided [RCV003045620]likely benign58351213483512134Humanname
156109092CV2177224single nucleotide variantNM_004385.5(VCAN):c.64C>T (p.His22Tyr)not provided [RCV003055019]uncertain significance58348358283483582Humanname
156013356CV2177225single nucleotide variantNM_004385.5(VCAN):c.69A>T (p.Lys23Asn)not provided [RCV003035359]uncertain significance58348358783483587Humanname
156237444CV2183794single nucleotide variantNM_004385.5(VCAN):c.57T>G (p.His19Gln)not provided [RCV003059536]uncertain significance58348357583483575Humanname
11552546CV252020single nucleotide variantNM_004385.5(VCAN):c.348T>C (p.Thr116=)Vitreoretinopathy [RCV000300511]|Wagner syndrome [RCV000260409]|not provided [RCV001520313]|not specified [RCV000254535]benign58349037583490375Human2name
11546343CV252021single nucleotide variantNM_004385.5(VCAN):c.393C>T (p.Asp131=)Vitreoretinopathy [RCV000266409]|Wagner syndrome [RCV000315619]|not provided [RCV001521791]|not specified [RCV000246335]benign58349042083490420Human2name
11545104CV252023single nucleotide variantNM_004385.5(VCAN):c.645A>G (p.Val215=)Vitreoretinopathy [RCV000298722]|Wagner syndrome [RCV000338361]|not provided [RCV001520314]|not specified [RCV000244690]benign58349382883493828Human4name
402478986CV2853848single nucleotide variantNM_004385.5(VCAN):c.31A>T (p.Met11Leu)not provided [RCV003543809]uncertain significance58348354983483549Humanname
405072750CV2872941single nucleotide variantNM_004385.5(VCAN):c.738T>C (p.Asp246=)not provided [RCV003548629]likely benign58349392183493921Humanname
405067646CV2936626single nucleotide variantNM_004385.5(VCAN):c.687T>A (p.Thr229=)not provided [RCV003659125]likely benign58349387083493870Humanname
405214067CV2971281single nucleotide variantNM_004385.5(VCAN):c.723G>T (p.Val241=)not provided [RCV003679699]likely benign58349390683493906Humanname
405248015CV2977283single nucleotide variantNM_004385.5(VCAN):c.55C>T (p.His19Tyr)not provided [RCV003720983]uncertain significance58348357383483573Humanname
11586896CV298219single nucleotide variantNM_004385.5(VCAN):c.426G>A (p.Thr142=)Vitreoretinopathy [RCV000291292]|Wagner syndrome [RCV000321872]|not provided [RCV000961625]benign58349045383490453Human2name
11647295CV298229single nucleotide variantNM_004385.5(VCAN):c.930G>A (p.Val310=)Vitreoretinopathy [RCV000388812]|Wagner syndrome [RCV000275753]uncertain significance58351228483512284Human2name
11602632CV304788single nucleotide variantNM_004385.5(VCAN):c.591C>T (p.Asp197=)Vitreoretinopathy [RCV000388088]|Wagner syndrome [RCV000292761]|not provided [RCV000912442]benign|likely benign58349369183493691Human2name
11603870CV304790single nucleotide variantNM_004385.5(VCAN):c.690T>C (p.Tyr230=)Vitreoretinopathy [RCV000390579]|Wagner syndrome [RCV000304228]|not provided [RCV001519813]benign|likely benign58349387383493873Human2name
405215135CV3124464single nucleotide variantNM_004385.5(VCAN):c.789C>T (p.Phe263=)not provided [RCV003823826]likely benign58351214383512143Humanname
405145712CV3155826single nucleotide variantNM_004385.5(VCAN):c.720T>C (p.Asp240=)not provided [RCV003855868]likely benign58349390383493903Humanname
405249882CV3180574single nucleotide variantNM_004385.5(VCAN):c.333C>A (p.Gly111=)not provided [RCV003869851]likely benign58349036083490360Humanname
597862985CV3745256single nucleotide variantNM_004385.5(VCAN):c.615T>A (p.Thr205=)not provided [RCV005067612]likely benign58349371583493715Humanname
597967263CV3794458single nucleotide variantNM_004385.5(VCAN):c.954T>C (p.Gly318=)not provided [RCV005140634]likely benign58351230883512308Humanname
597835178CV3828133single nucleotide variantNM_004385.5(VCAN):c.742C>T (p.Leu248=)not provided [RCV005171025]likely benign58349392583493925Humanname
597974813CV3831857single nucleotide variantNM_004385.5(VCAN):c.49G>A (p.Val17Ile)not provided [RCV005168796]uncertain significance58348356783483567Humanname
597953530CV3844008single nucleotide variantNM_004385.5(VCAN):c.567T>C (p.Tyr189=)not provided [RCV005190870]likely benign58349366783493667Humanname
598205663CV3929475single nucleotide variantNM_004385.5(VCAN):c.56A>C (p.His19Pro)Inborn genetic diseases [RCV005290885]uncertain significance58348357483483574Human1name
15165833CV749636single nucleotide variantNM_004385.5(VCAN):c.855G>A (p.Ala285=)not provided [RCV000926723]likely benign58351220983512209Humanname
28897362CV894777single nucleotide variantNM_004385.5(VCAN):c.375G>A (p.Ala125=)Vitreoretinopathy [RCV001156665]|Wagner syndrome [RCV001155006]|not provided [RCV001449418]likely benign|uncertain significance58349040283490402Human2name
28886619CV894778single nucleotide variantNM_004385.5(VCAN):c.630C>T (p.Ile210=)Vitreoretinopathy [RCV001151206]|Wagner syndrome [RCV001151207]|not provided [RCV001515589]benign58349381383493813Human2name
28895455CV894779single nucleotide variantNM_004385.5(VCAN):c.909C>T (p.Ser303=)Vitreoretinopathy [RCV001154278]|Wagner syndrome [RCV001154279]|not provided [RCV002557316]benign|likely benign58351226383512263Human2name
38496800CV944722single nucleotide variantNM_004385.5(VCAN):c.92C>T (p.Pro31Leu)Inborn genetic diseases [RCV002563096]|not provided [RCV001226634]uncertain significance58349011983490119Human1name
38495618CV944725single nucleotide variantNM_004385.5(VCAN):c.333C>T (p.Gly111=)not provided [RCV001225834]likely benign|uncertain significance58349036083490360Humanname
126743903CV1006249single nucleotide variantNM_004385.5(VCAN):c.261A>C (p.Gln87His)not provided [RCV001314866]uncertain significance58349028883490288Humanname
126734567CV1026777single nucleotide variantNM_004385.5(VCAN):c.215A>G (p.Asp72Gly)not provided [RCV001349960]uncertain significance58349024283490242Humanname
126914299CV1043737single nucleotide variantNM_004385.5(VCAN):c.133C>T (p.His45Tyr)Inborn genetic diseases [RCV003169905]|not provided [RCV001370423]uncertain significance58349016083490160Human1name
126912288CV1043738single nucleotide variantNM_004385.5(VCAN):c.143C>T (p.Thr48Met)not provided [RCV001369660]uncertain significance58349017083490170Humanname
127233317CV1073012single nucleotide variantNM_004385.5(VCAN):c.1062C>T (p.Ile354=)not provided [RCV001396072]likely benign58351936883519368Humanname
127256473CV1073013single nucleotide variantNM_004385.5(VCAN):c.1938A>C (p.Pro646=)not provided [RCV001419057]likely benign58352024483520244Humanname
127276300CV1073014single nucleotide variantNM_004385.5(VCAN):c.2481C>A (p.Pro827=)not provided [RCV001407118]likely benign58352078783520787Humanname
127276588CV1073015single nucleotide variantNM_004385.5(VCAN):c.2481C>T (p.Pro827=)not provided [RCV001407217]likely benign58352078783520787Humanname
127281747CV1073016single nucleotide variantNM_004385.5(VCAN):c.2505G>A (p.Gly835=)not provided [RCV001410669]likely benign58352081183520811Humanname
127254911CV1094602single nucleotide variantNM_004385.5(VCAN):c.1125T>C (p.Ser375=)not provided [RCV001426398]likely benign58351943183519431Humanname
127266736CV1094603single nucleotide variantNM_004385.5(VCAN):c.1293G>A (p.Lys431=)not provided [RCV001429463]likely benign58351959983519599Humanname
127275230CV1094604single nucleotide variantNM_004385.5(VCAN):c.1431C>T (p.Val477=)not provided [RCV001443248]likely benign58351973783519737Humanname
127245961CV1094605single nucleotide variantNM_004385.5(VCAN):c.1773C>T (p.His591=)not provided [RCV001435303]likely benign58352007983520079Humanname
127279081CV1094606single nucleotide variantNM_004385.5(VCAN):c.1800C>T (p.Val600=)not provided [RCV001445522]likely benign58352010683520106Humanname
127265240CV1094607single nucleotide variantNM_004385.5(VCAN):c.2253A>G (p.Thr751=)not provided [RCV001429024]likely benign58352055983520559Humanname
127272184CV1094608single nucleotide variantNM_004385.5(VCAN):c.2463A>G (p.Ser821=)not provided [RCV001431212]likely benign58352076983520769Humanname
127277119CV1094609single nucleotide variantNM_004385.5(VCAN):c.2607T>C (p.Thr869=)not provided [RCV001444203]likely benign58352091383520913Humanname
127243684CV1094610single nucleotide variantNM_004385.5(VCAN):c.2784A>G (p.Val928=)VCAN-related disorder [RCV003908617]|not provided [RCV001423997]likely benign58352109083521090Human1name , alternate_id
127279827CV1094611single nucleotide variantNM_004385.5(VCAN):c.2835C>T (p.His945=)not provided [RCV001446013]likely benign58352114183521141Humanname
127328200CV1116136single nucleotide variantNM_004385.5(VCAN):c.1227A>G (p.Thr409=)not provided [RCV001469471]likely benign58351953383519533Humanname
127304184CV1116137single nucleotide variantNM_004385.5(VCAN):c.1380C>A (p.Leu460=)not provided [RCV001454915]likely benign58351968683519686Humanname
127293025CV1116138single nucleotide variantNM_004385.5(VCAN):c.1530C>G (p.Ser510=)not provided [RCV001459107]likely benign58351983683519836Humanname
127296437CV1116139single nucleotide variantNM_004385.5(VCAN):c.1755T>G (p.Thr585=)not provided [RCV001452741]likely benign58352006183520061Humanname
127293744CV1116140single nucleotide variantNM_004385.5(VCAN):c.2322A>T (p.Pro774=)not provided [RCV001459288]likely benign58352062883520628Humanname
127337775CV1116141single nucleotide variantNM_004385.5(VCAN):c.2901A>G (p.Val967=)not provided [RCV001475850]likely benign58352120783521207Humanname
127304976CV1137102single nucleotide variantNM_004385.5(VCAN):c.1743G>A (p.Thr581=)not provided [RCV001479677]likely benign58352004983520049Humanname
127329231CV1137103single nucleotide variantNM_004385.5(VCAN):c.2097T>C (p.Tyr699=)not provided [RCV001487301]likely benign58352040383520403Humanname
127329451CV1137104single nucleotide variantNM_004385.5(VCAN):c.2448G>A (p.Glu816=)not provided [RCV001487417]likely benign58352075483520754Humanname
127315721CV1155202single nucleotide variantNM_004385.5(VCAN):c.1191C>T (p.Pro397=)VCAN-related disorder [RCV004746417]|not provided [RCV001520112]benign|likely benign58351949783519497Human1name , alternate_id
127303503CV1155203single nucleotide variantNM_004385.5(VCAN):c.1230C>G (p.Val410=)not provided [RCV001515498]benign58351953683519536Humanname
127305759CV1155205single nucleotide variantNM_004385.5(VCAN):c.1251T>C (p.Asp417=)not provided [RCV001516394]benign58351955783519557Humanname
127308594CV1155208single nucleotide variantNM_004385.5(VCAN):c.1413G>A (p.Thr471=)not provided [RCV001517558]benign58351971983519719Humanname
127307815CV1155210single nucleotide variantNM_004385.5(VCAN):c.2028A>G (p.Leu676=)VCAN-related disorder [RCV003940937]|not provided [RCV001517265]|not specified [RCV001701184]benign58352033483520334Human1name , alternate_id
127321969CV1155211single nucleotide variantNM_004385.5(VCAN):c.2262A>T (p.Thr754=)not provided [RCV001523307]benign58352056883520568Humanname
151857150CV1347982single nucleotide variantNM_004385.5(VCAN):c.188G>A (p.Arg63His)not provided [RCV001979666]uncertain significance58349021583490215Humanname
151759195CV1371802single nucleotide variantNM_004385.5(VCAN):c.2766A>T (p.Gly922=)not provided [RCV001969979]likely benign|uncertain significance58352107283521072Humanname
151889526CV1398852single nucleotide variantNM_004385.5(VCAN):c.229G>A (p.Asp77Asn)not provided [RCV001942822]uncertain significance58349025683490256Humanname
151746474CV1462223single nucleotide variantNM_004385.5(VCAN):c.135T>A (p.His45Gln)not provided [RCV001968697]uncertain significance58349016283490162Humanname
151862963CV1498397single nucleotide variantNM_004385.5(VCAN):c.118G>T (p.Val40Phe)not provided [RCV001980364]uncertain significance58349014583490145Humanname
151724287CV1500451single nucleotide variantNM_004385.5(VCAN):c.2577T>C (p.Asp859=)not provided [RCV001910141]likely benign|uncertain significance58352088383520883Humanname
151846931CV1507803single nucleotide variantNM_004385.5(VCAN):c.1434G>A (p.Val478=)not provided [RCV001978408]likely benign|uncertain significance58351974083519740Humanname
152046816CV1519675single nucleotide variantNM_004385.5(VCAN):c.2706T>C (p.Thr902=)not provided [RCV002145178]likely benign58352101283521012Humanname
152175700CV1527089single nucleotide variantNM_004385.5(VCAN):c.1344A>G (p.Gly448=)not provided [RCV002163836]likely benign58351965083519650Humanname
152067227CV1534600single nucleotide variantNM_004385.5(VCAN):c.2943A>G (p.Thr981=)not provided [RCV002110951]likely benign58352124983521249Humanname
152080592CV1546555single nucleotide variantNM_004385.5(VCAN):c.1716C>A (p.Ile572=)not provided [RCV002130769]likely benign58352002283520022Humanname
152040437CV1553260single nucleotide variantNM_004385.5(VCAN):c.1005T>C (p.Pro335=)not provided [RCV002087881]likely benign58351235983512359Humanname
152039217CV1555246single nucleotide variantNM_004385.5(VCAN):c.1998G>A (p.Glu666=)not provided [RCV002107485]likely benign58352030483520304Humanname
152117660CV1556299single nucleotide variantNM_004385.5(VCAN):c.1668T>C (p.Asp556=)not provided [RCV002216354]likely benign58351997483519974Humanname
152057008CV1567212single nucleotide variantNM_004385.5(VCAN):c.1332A>G (p.Ser444=)not provided [RCV002146353]likely benign58351963883519638Humanname
152084030CV1569619single nucleotide variantNM_004385.5(VCAN):c.1077C>T (p.Leu359=)not provided [RCV002113145]likely benign58351938383519383Humanname
152102977CV1571785single nucleotide variantNM_004385.5(VCAN):c.2817T>C (p.Thr939=)not provided [RCV002173344]likely benign58352112383521123Humanname
152053806CV1595984single nucleotide variantNM_004385.5(VCAN):c.1641C>T (p.His547=)not provided [RCV002072696]likely benign58351994783519947Humanname
152121554CV1613215single nucleotide variantNM_004385.5(VCAN):c.2844G>A (p.Glu948=)not provided [RCV002154328]likely benign58352115083521150Humanname
152148697CV1616592single nucleotide variantNM_004385.5(VCAN):c.1782A>G (p.Leu594=)not provided [RCV002201630]likely benign58352008883520088Humanname
152132765CV1621466single nucleotide variantNM_004385.5(VCAN):c.2319T>C (p.Thr773=)not provided [RCV002218300]likely benign58352062583520625Humanname
152134711CV1634316single nucleotide variantNM_004385.5(VCAN):c.1092A>G (p.Ser364=)not provided [RCV002218556]likely benign58351939883519398Humanname
152064673CV1652380single nucleotide variantNM_004385.5(VCAN):c.1968T>C (p.Phe656=)not provided [RCV002090726]likely benign58352027483520274Humanname
152107113CV1657232single nucleotide variantNM_004385.5(VCAN):c.2142A>G (p.Gly714=)not provided [RCV002214966]likely benign58352044883520448Humanname
152091262CV1662154single nucleotide variantNM_004385.5(VCAN):c.2067A>G (p.Thr689=)not provided [RCV002132073]benign58352037383520373Humanname
152174681CV1663337single nucleotide variantNM_004385.5(VCAN):c.2817T>G (p.Thr939=)not provided [RCV002144517]likely benign58352112383521123Humanname
152050072CV1664691single nucleotide variantNM_004385.5(VCAN):c.1395C>T (p.Gly465=)not provided [RCV002127135]likely benign58351970183519701Humanname
156380519CV1968612single nucleotide variantNM_004385.5(VCAN):c.272T>C (p.Ile91Thr)Inborn genetic diseases [RCV004065722]|not provided [RCV002603932]uncertain significance58349029983490299Human1name
156073494CV1968992single nucleotide variantNM_004385.5(VCAN):c.2430A>G (p.Thr810=)not provided [RCV002621316]likely benign58352073683520736Humanname
156125169CV1969375single nucleotide variantNM_004385.5(VCAN):c.2049A>G (p.Arg683=)not provided [RCV002593280]likely benign58352035583520355Humanname
155972236CV1978511single nucleotide variantNM_004385.5(VCAN):c.118G>A (p.Val40Ile)not provided [RCV002617234]uncertain significance58349014583490145Humanname
156350815CV1985590single nucleotide variantNM_004385.5(VCAN):c.2217T>C (p.Ser739=)not provided [RCV002631966]likely benign58352052383520523Humanname
156104270CV2001881single nucleotide variantNM_004385.5(VCAN):c.1863C>T (p.Asp621=)not provided [RCV002639696]likely benign58352016983520169Humanname
156391514CV2006228single nucleotide variantNM_004385.5(VCAN):c.149C>T (p.Pro50Leu)not provided [RCV002654428]uncertain significance58349017683490176Humanname
156057621CV2008074single nucleotide variantNM_004385.5(VCAN):c.1371A>G (p.Glu457=)not provided [RCV002705274]likely benign58351967783519677Humanname
156226043CV2009476single nucleotide variantNM_004385.5(VCAN):c.206T>C (p.Ile69Thr)not provided [RCV002701186]uncertain significance58349023383490233Humanname
156176444CV2010389single nucleotide variantNM_004385.5(VCAN):c.1116A>G (p.Gln372=)not provided [RCV002710644]likely benign58351942283519422Humanname
156021279CV2025425single nucleotide variantNM_004385.5(VCAN):c.179A>T (p.Glu60Val)not provided [RCV002735388]uncertain significance58349020683490206Humanname
156288093CV2050276single nucleotide variantNM_004385.5(VCAN):c.2484T>A (p.Pro828=)not provided [RCV002807234]likely benign58352079083520790Humanname
156168263CV2056705single nucleotide variantNM_004385.5(VCAN):c.1020A>G (p.Arg340=)not provided [RCV002801874]likely benign58351237483512374Humanname
156179892CV2062360single nucleotide variantNM_004385.5(VCAN):c.1014T>C (p.Asp338=)not provided [RCV002828269]likely benign58351236883512368Humanname
156294938CV2073430single nucleotide variantNM_004385.5(VCAN):c.1137A>T (p.Thr379=)not provided [RCV002833356]likely benign58351944383519443Humanname
156188436CV2086647single nucleotide variantNM_004385.5(VCAN):c.2994T>G (p.Gly998=)not provided [RCV002852058]likely benign58352130083521300Humanname
156189739CV2086698single nucleotide variantNM_004385.5(VCAN):c.2187T>A (p.Ser729=)not provided [RCV002852098]likely benign58352049383520493Humanname
156216646CV2107087single nucleotide variantNM_004385.5(VCAN):c.1767C>T (p.Thr589=)not provided [RCV002918391]likely benign58352007383520073Humanname
156288684CV2115080single nucleotide variantNM_004385.5(VCAN):c.250C>T (p.Leu84Phe)not provided [RCV002922059]uncertain significance58349027783490277Humanname
156310101CV2119937single nucleotide variantNM_004385.5(VCAN):c.1167T>C (p.Pro389=)not provided [RCV002962569]likely benign58351947383519473Humanname
156016743CV2121442single nucleotide variantNM_004385.5(VCAN):c.183T>G (p.Phe61Leu)not provided [RCV002948573]uncertain significance58349021083490210Humanname
155935210CV2125613single nucleotide variantNM_004385.5(VCAN):c.1101A>G (p.Leu367=)not provided [RCV002970890]likely benign58351940783519407Humanname
156299812CV2169988single nucleotide variantNM_004385.5(VCAN):c.214G>A (p.Asp72Asn)not provided [RCV003045496]uncertain significance58349024183490241Humanname
156130002CV2182059single nucleotide variantNM_004385.5(VCAN):c.2358G>A (p.Val786=)not provided [RCV003055803]likely benign58352066483520664Humanname
156368564CV2190508single nucleotide variantNM_004385.5(VCAN):c.2394C>G (p.Ala798=)not provided [RCV003066120]likely benign58352070083520700Humanname
156338306CV2271253single nucleotide variantNM_004385.5(VCAN):c.127C>T (p.Pro43Ser)Inborn genetic diseases [RCV002836006]|not provided [RCV005059303]uncertain significance58349015483490154Human1name
329361026CV2463210single nucleotide variantNM_004385.5(VCAN):c.179A>C (p.Glu60Ala)Inborn genetic diseases [RCV003205307]uncertain significance58349020683490206Human1name
11641517CV269261single nucleotide variantNM_004385.5(VCAN):c.1458G>T (p.Ser486=)not provided [RCV000358033]conflicting interpretations of pathogenicity|uncertain significance58351976483519764Humanname
405045928CV2859647single nucleotide variantNM_004385.5(VCAN):c.1179A>G (p.Thr393=)not provided [RCV003579276]likely benign58351948583519485Humanname
402504333CV2880014single nucleotide variantNM_004385.5(VCAN):c.176G>T (p.Ser59Ile)not provided [RCV003546220]uncertain significance58349020383490203Humanname
402481135CV2910772single nucleotide variantNM_004385.5(VCAN):c.2904C>T (p.Asp968=)not provided [RCV003571928]likely benign58352121083521210Humanname
402503087CV2937726single nucleotide variantNM_004385.5(VCAN):c.2991A>G (p.Leu997=)not provided [RCV003661787]likely benign58352129783521297Humanname
402497004CV2942930single nucleotide variantNM_004385.5(VCAN):c.1419A>G (p.Ser473=)not provided [RCV003661227]likely benign58351972583519725Humanname
405217094CV2972255single nucleotide variantNM_004385.5(VCAN):c.2367C>T (p.Ala789=)not provided [RCV003680167]likely benign58352067383520673Humanname
11651445CV298243single nucleotide variantNM_004385.5(VCAN):c.2937C>T (p.Pro979=)Vitreoretinopathy [RCV000298906]|Wagner syndrome [RCV000338753]uncertain significance58352124383521243Human2name
402518774CV3000104single nucleotide variantNM_004385.5(VCAN):c.170A>C (p.Asn57Thr)not provided [RCV003716272]uncertain significance58349019783490197Humanname
11586610CV300528single nucleotide variantNM_004385.5(VCAN):c.109T>G (p.Ser37Ala)VCAN-related disorder [RCV003897795]|Vitreoretinopathy [RCV000344353]|Wagner syndrome [RCV000289322]|not provided [RCV002061295]likely benign|uncertain significance58349013683490136Human2name , alternate_id
11584656CV300537single nucleotide variantNM_004385.5(VCAN):c.1794G>A (p.Glu598=)Vitreoretinopathy [RCV000275414]|Wagner syndrome [RCV000319298]benign|likely benign58352010083520100Human2name
11589704CV300546single nucleotide variantNM_004385.5(VCAN):c.2220T>C (p.Ser740=)Vitreoretinopathy [RCV000312627]|Wagner syndrome [RCV000367257]|not provided [RCV000903186]benign|likely benign58352052683520526Human2name
405148018CV3024076single nucleotide variantNM_004385.5(VCAN):c.1789T>C (p.Leu597=)not provided [RCV003703017]likely benign58352009583520095Humanname
405121587CV3024626single nucleotide variantNM_004385.5(VCAN):c.1074C>T (p.Ile358=)not provided [RCV003700816]likely benign58351938083519380Humanname
405221955CV3038668single nucleotide variantNM_004385.5(VCAN):c.1107A>G (p.Lys369=)not provided [RCV003710105]likely benign58351941383519413Humanname
11603683CV305071single nucleotide variantNM_004385.5(VCAN):c.2943A>T (p.Thr981=)Vitreoretinopathy [RCV000402621]|Wagner syndrome [RCV000302580]|not provided [RCV001512016]benign|likely benign58352124983521249Human2name
405059073CV3129384single nucleotide variantNM_004385.5(VCAN):c.2520T>C (p.Asp840=)not provided [RCV003832653]likely benign58352082683520826Humanname
405140378CV3131155single nucleotide variantNM_004385.5(VCAN):c.2214G>A (p.Glu738=)not provided [RCV003839195]likely benign58352052083520520Humanname
405108430CV3136668deletionNM_004385.5(VCAN):c.10063+9_10063+25delnot provided [RCV003835822]uncertain significance58358016883580184Humanname
405154545CV3163132single nucleotide variantNM_004385.5(VCAN):c.1236T>C (p.Pro412=)not provided [RCV003856575]likely benign58351954283519542Humanname
596941247CV3408113single nucleotide variantNM_004385.5(VCAN):c.110C>T (p.Ser37Phe)Retinal dystrophy [RCV004815784]uncertain significance58349013783490137Human2name
407529468CV3493377single nucleotide variantNM_004385.5(VCAN):c.212T>C (p.Val71Ala)Inborn genetic diseases [RCV004680921]uncertain significance58349023983490239Human1name
408393582CV3519666single nucleotide variantNM_004385.5(VCAN):c.261A>T (p.Gln87His)not provided [RCV004763962]uncertain significance58349028883490288Humanname
597838476CV3736906single nucleotide variantNM_004385.5(VCAN):c.2076A>G (p.Pro692=)not provided [RCV005064386]likely benign58352038283520382Humanname
597916840CV3737439single nucleotide variantNM_004385.5(VCAN):c.1095C>T (p.Pro365=)not provided [RCV005074228]likely benign58351940183519401Humanname
597920492CV3738086single nucleotide variantNM_004385.5(VCAN):c.1224C>T (p.Ala408=)not provided [RCV005074685]likely benign58351953083519530Humanname
597885861CV3741727single nucleotide variantNM_004385.5(VCAN):c.2982T>C (p.Asp994=)not provided [RCV005070446]likely benign58352128883521288Humanname
597939670CV3775371single nucleotide variantNM_004385.5(VCAN):c.1890G>A (p.Arg630=)not provided [RCV005118197]likely benign58352019683520196Humanname
597900315CV3783004single nucleotide variantNM_004385.5(VCAN):c.2988T>C (p.Val996=)not provided [RCV005127024]likely benign58352129483521294Humanname
597931212CV3789442single nucleotide variantNM_004385.5(VCAN):c.101G>A (p.Gly34Asp)not provided [RCV005131723]uncertain significance58349012883490128Humanname
597957458CV3814363single nucleotide variantNM_004385.5(VCAN):c.200C>G (p.Ser67Cys)not provided [RCV005162694]uncertain significance58349022783490227Humanname
597963200CV3819555single nucleotide variantNM_004385.5(VCAN):c.1425T>C (p.Asp475=)not provided [RCV005164271]likely benign58351973183519731Humanname
15158370CV710053single nucleotide variantNM_004385.5(VCAN):c.1458G>A (p.Ser486=)not provided [RCV000969496]benign58351976483519764Humanname
15187834CV735243single nucleotide variantNM_004385.5(VCAN):c.2757C>T (p.Thr919=)not provided [RCV000909198]likely benign58352106383521063Humanname
15199640CV749637single nucleotide variantNM_004385.5(VCAN):c.1383G>A (p.Gln461=)not provided [RCV000912609]likely benign58351968983519689Humanname
15106777CV765363single nucleotide variantNM_004385.5(VCAN):c.1281T>C (p.Thr427=)VCAN-related disorder [RCV003903120]|not provided [RCV000937843]benign58351958783519587Human1name , alternate_id
8626051CV81195single nucleotide variantNM_004385.4(VCAN):c.1530C>T (p.Ser510=)Malignant melanoma [RCV000061273]not provided58351983683519836Humanname
26919872CV831182single nucleotide variantNM_004385.5(VCAN):c.157C>T (p.Pro53Ser)Inborn genetic diseases [RCV002553147]|Vitreoretinopathy [RCV001154162]|Wagner syndrome [RCV001154163]|not provided [RCV001046583]benign|uncertain significance58349018483490184Human3name
26899511CV831183single nucleotide variantNM_004385.5(VCAN):c.160C>T (p.Pro54Ser)Vitreoretinopathy [RCV001154165]|Wagner syndrome [RCV001154164]|not provided [RCV001067230]benign|uncertain significance58349018783490187Human2name
26884510CV831184single nucleotide variantNM_004385.5(VCAN):c.221A>G (p.Asn74Ser)Vitreoretinopathy [RCV001154167]|Wagner syndrome [RCV001154166]|not provided [RCV001051916]benign|conflicting interpretations of pathogenicity|uncertain significance58349024883490248Human2name
28887048CV894786single nucleotide variantNM_004385.5(VCAN):c.1650C>T (p.Phe550=)VCAN-related disorder [RCV003906267]|Vitreoretinopathy [RCV001154373]|Wagner syndrome [RCV001151334]|not provided [RCV001476292]benign|likely benign58351995683519956Human2name , alternate_id
28895690CV894787single nucleotide variantNM_004385.5(VCAN):c.1896G>A (p.Thr632=)Vitreoretinopathy [RCV001154375]|Wagner syndrome [RCV001154374]|not provided [RCV001419333]benign|likely benign58352020283520202Human2name
28887445CV894790single nucleotide variantNM_004385.5(VCAN):c.2925T>C (p.Leu975=)Vitreoretinopathy [RCV001154478]|Wagner syndrome [RCV001151454]|not provided [RCV001523435]benign58352123183521231Human2name
38487682CV944723single nucleotide variantNM_004385.5(VCAN):c.187C>T (p.Arg63Cys)Inborn genetic diseases [RCV002563899]|not provided [RCV001237706]uncertain significance58349021483490214Human1name
38489176CV944724single nucleotide variantNM_004385.5(VCAN):c.188G>T (p.Arg63Leu)not provided [RCV001238304]uncertain significance58349021583490215Humanname
38456436CV954240single nucleotide variantNM_004385.5(VCAN):c.256G>T (p.Ala86Ser)not provided [RCV001245773]uncertain significance58349028383490283Humanname
126773545CV1006250single nucleotide variantNM_004385.5(VCAN):c.403G>A (p.Gly135Arg)not provided [RCV001324394]uncertain significance58349043083490430Humanname
126747391CV1006251single nucleotide variantNM_004385.5(VCAN):c.728G>T (p.Cys243Phe)not provided [RCV001315341]uncertain significance58349391183493911Humanname
126750368CV1026779single nucleotide variantNM_004385.5(VCAN):c.386G>A (p.Arg129His)Inborn genetic diseases [RCV003263999]|not provided [RCV001352233]uncertain significance58349041383490413Human1name
126736174CV1026780single nucleotide variantNM_004385.5(VCAN):c.959T>G (p.Leu320Arg)Inborn genetic diseases [RCV002547500]|not provided [RCV001350190]uncertain significance58351231383512313Human1name
126769204CV1026817single nucleotide variantNM_004385.5(VCAN):c.9657G>A (p.Val3219=)not provided [RCV001343796]likely benign|uncertain significance58355496083554960Humanname
126919301CV1043739single nucleotide variantNM_004385.5(VCAN):c.308T>C (p.Val103Ala)not provided [RCV001362214]uncertain significance58349033583490335Humanname
126916107CV1043740single nucleotide variantNM_004385.5(VCAN):c.425C>T (p.Thr142Met)Inborn genetic diseases [RCV002548652]|not provided [RCV001371308]uncertain significance58349045283490452Human1name
126923964CV1043741single nucleotide variantNM_004385.5(VCAN):c.634G>A (p.Ala212Thr)not provided [RCV001366464]uncertain significance58349381783493817Humanname
126922164CV1043742single nucleotide variantNM_004385.5(VCAN):c.983T>C (p.Phe328Ser)not provided [RCV001364345]uncertain significance58351233783512337Humanname
126918874CV1043766single nucleotide variantNM_004385.5(VCAN):c.6654T>A (p.Ala2218=)not provided [RCV001361979]likely benign|conflicting interpretations of pathogenicity|uncertain significance58353965783539657Humanname
127244727CV1073018single nucleotide variantNM_004385.5(VCAN):c.3075A>G (p.Lys1025=)not provided [RCV001416384]likely benign58352138183521381Humanname
127250909CV1073019single nucleotide variantNM_004385.5(VCAN):c.3204C>G (p.Gly1068=)not provided [RCV001399970]likely benign58352151083521510Humanname
127265323CV1073020single nucleotide variantNM_004385.5(VCAN):c.3381G>A (p.Gly1127=)not provided [RCV001403543]likely benign58352168783521687Humanname
127263781CV1073023single nucleotide variantNM_004385.5(VCAN):c.4314A>G (p.Ala1438=)not provided [RCV001403086]likely benign58353731783537317Humanname
127249429CV1073024single nucleotide variantNM_004385.5(VCAN):c.5490T>C (p.Ser1830=)not provided [RCV001417319]likely benign58353849383538493Humanname
127231910CV1073025single nucleotide variantNM_004385.5(VCAN):c.5616G>A (p.Pro1872=)not provided [RCV001413251]likely benign58353861983538619Humanname
127243178CV1073026single nucleotide variantNM_004385.5(VCAN):c.5859G>A (p.Thr1953=)VCAN-related disorder [RCV003963254]|not provided [RCV001393458]likely benign58353886283538862Human1name , alternate_id
127232662CV1073027single nucleotide variantNM_004385.5(VCAN):c.6207G>A (p.Thr2069=)not provided [RCV001395807]likely benign58353921083539210Humanname
127274750CV1073028single nucleotide variantNM_004385.5(VCAN):c.6669A>G (p.Thr2223=)not provided [RCV001406427]likely benign58353967283539672Humanname
127249525CV1073029single nucleotide variantNM_004385.5(VCAN):c.7227A>G (p.Glu2409=)not provided [RCV001399616]likely benign58354023083540230Humanname
127232156CV1073030single nucleotide variantNM_004385.5(VCAN):c.7512C>T (p.Ser2504=)not provided [RCV001413334]likely benign58354051583540515Humanname
127245385CV1073031single nucleotide variantNM_004385.5(VCAN):c.7554T>C (p.Gly2518=)not provided [RCV001416481]likely benign58354055783540557Humanname
127250785CV1073032single nucleotide variantNM_004385.5(VCAN):c.7716G>A (p.Ser2572=)not provided [RCV001417652]likely benign58354071983540719Humanname
127245117CV1073033single nucleotide variantNM_004385.5(VCAN):c.8265A>G (p.Lys2755=)not provided [RCV001393822]likely benign58354126883541268Humanname
127276445CV1073034single nucleotide variantNM_004385.5(VCAN):c.8592T>C (p.Ser2864=)not provided [RCV001407165]likely benign58354159583541595Humanname
127233712CV1073035single nucleotide variantNM_004385.5(VCAN):c.8649C>T (p.Tyr2883=)not provided [RCV001414003]likely benign58354165283541652Humanname
127255420CV1073036single nucleotide variantNM_004385.5(VCAN):c.8724G>A (p.Glu2908=)not provided [RCV001418737]likely benign58354172783541727Humanname
127256868CV1073038single nucleotide variantNM_004385.5(VCAN):c.9405C>T (p.Pro3135=)not provided [RCV001419133]likely benign58354799683547996Humanname
127271411CV1073039single nucleotide variantNM_004385.5(VCAN):c.9480A>G (p.Ala3160=)not provided [RCV001405335]likely benign58354807183548071Humanname
127232360CV1073041single nucleotide variantNM_004385.5(VCAN):c.9597G>T (p.Leu3199=)not provided [RCV001395653]likely benign58355346783553467Humanname
127273353CV1094612single nucleotide variantNM_004385.5(VCAN):c.3225C>G (p.Val1075=)not provided [RCV001431608]likely benign58352153183521531Humanname
127268490CV1094613single nucleotide variantNM_004385.5(VCAN):c.3405G>A (p.Gly1135=)VCAN-related disorder [RCV003955961]|not provided [RCV001440800]likely benign58352171183521711Human1name , alternate_id
127281987CV1094614single nucleotide variantNM_004385.5(VCAN):c.3453A>G (p.Thr1151=)not provided [RCV001447548]likely benign58352175983521759Humanname
127261654CV1094615single nucleotide variantNM_004385.5(VCAN):c.4263C>T (p.Pro1421=)not provided [RCV001438802]likely benign58353726683537266Humanname
127249445CV1094617single nucleotide variantNM_004385.5(VCAN):c.4746C>T (p.Tyr1582=)not provided [RCV001436093]likely benign58353774983537749Humanname
127272947CV1094618single nucleotide variantNM_004385.5(VCAN):c.4749T>G (p.Thr1583=)not provided [RCV001442377]likely benign58353775283537752Humanname
127247803CV1094619single nucleotide variantNM_004385.5(VCAN):c.4950T>C (p.Asp1650=)not provided [RCV001435694]likely benign58353795383537953Humanname
127235792CV1094620single nucleotide variantNM_004385.5(VCAN):c.5241G>A (p.Ser1747=)not provided [RCV001433186]likely benign58353824483538244Humanname
127266270CV1094621single nucleotide variantNM_004385.5(VCAN):c.5325C>G (p.Ser1775=)not provided [RCV001429356]likely benign58353832883538328Humanname
127275397CV1094622single nucleotide variantNM_004385.5(VCAN):c.5547T>G (p.Val1849=)not provided [RCV001443309]likely benign58353855083538550Humanname
127280418CV1094623single nucleotide variantNM_004385.5(VCAN):c.5823C>T (p.Tyr1941=)not provided [RCV001446428]likely benign58353882683538826Humanname
127263222CV1094624single nucleotide variantNM_004385.5(VCAN):c.5856A>G (p.Glu1952=)not provided [RCV001428514]likely benign58353885983538859Humanname
127246348CV1094625single nucleotide variantNM_004385.5(VCAN):c.6133T>C (p.Leu2045=)not provided [RCV001424501]likely benign58353913683539136Humanname
127262360CV1094626single nucleotide variantNM_004385.5(VCAN):c.6363A>G (p.Gln2121=)not provided [RCV001428285]likely benign58353936683539366Humanname
127236660CV1094627single nucleotide variantNM_004385.5(VCAN):c.6414A>G (p.Thr2138=)not provided [RCV001433387]likely benign58353941783539417Humanname
127239099CV1094629single nucleotide variantNM_004385.5(VCAN):c.7431T>C (p.Val2477=)not provided [RCV001433907]likely benign58354043483540434Humanname
127270548CV1094630single nucleotide variantNM_004385.5(VCAN):c.7713A>G (p.Thr2571=)not provided [RCV001441492]likely benign58354071683540716Humanname
127263129CV1094631single nucleotide variantNM_004385.5(VCAN):c.7815A>G (p.Pro2605=)not provided [RCV001439214]likely benign58354081883540818Humanname
127257645CV1094635single nucleotide variantNM_004385.5(VCAN):c.9214C>T (p.Leu3072=)not provided [RCV001437934]likely benign58354221783542217Humanname
127280327CV1094637single nucleotide variantNM_004385.5(VCAN):c.9360C>T (p.Ser3120=)not provided [RCV001446381]likely benign58354563183545631Humanname
127248049CV1094638single nucleotide variantNM_004385.5(VCAN):c.9555C>T (p.Ala3185=)not provided [RCV001435733]likely benign58355342583553425Humanname
127276469CV1094639single nucleotide variantNM_004385.5(VCAN):c.9849C>T (p.Tyr3283=)not provided [RCV001443819]likely benign58357252983572529Humanname
127235067CV1094640single nucleotide variantNM_004385.5(VCAN):c.9987C>T (p.Phe3329=)not provided [RCV001422194]likely benign58358008683580086Humanname
127296449CV1116143single nucleotide variantNM_004385.5(VCAN):c.3741C>T (p.Asp1247=)not provided [RCV001459986]likely benign58352204783522047Humanname
127326313CV1116144single nucleotide variantNM_004385.5(VCAN):c.4512C>T (p.Val1504=)not provided [RCV001468713]likely benign58353751583537515Humanname
127297347CV1116145single nucleotide variantNM_004385.5(VCAN):c.4800A>C (p.Ala1600=)not provided [RCV001477584]likely benign58353780383537803Humanname
127314056CV1116146single nucleotide variantNM_004385.5(VCAN):c.5133T>C (p.Thr1711=)not provided [RCV001457598]likely benign58353813683538136Humanname
127317799CV1116147single nucleotide variantNM_004385.5(VCAN):c.5655G>A (p.Leu1885=)not provided [RCV001465996]likely benign58353865883538658Humanname
127331055CV1116148single nucleotide variantNM_004385.5(VCAN):c.6411A>G (p.Gln2137=)not provided [RCV001471302]likely benign58353941483539414Humanname
127318039CV1116149single nucleotide variantNM_004385.5(VCAN):c.6462T>C (p.Asp2154=)not provided [RCV001466061]likely benign58353946583539465Humanname
127293078CV1116150single nucleotide variantNM_004385.5(VCAN):c.6472C>T (p.Leu2158=)VCAN-related disorder [RCV003980379]|not provided [RCV001459125]likely benign58353947583539475Human1name , alternate_id
127335756CV1116151single nucleotide variantNM_004385.5(VCAN):c.6492C>T (p.Tyr2164=)not provided [RCV001474472]likely benign58353949583539495Humanname
127302301CV1116152single nucleotide variantNM_004385.5(VCAN):c.6771A>T (p.Gly2257=)VCAN-related disorder [RCV003900563]|not provided [RCV001454415]likely benign58353977483539774Human1name , alternate_id
127310953CV1116153single nucleotide variantNM_004385.5(VCAN):c.6807G>A (p.Glu2269=)not provided [RCV001464031]likely benign58353981083539810Humanname
127321040CV1116154single nucleotide variantNM_004385.5(VCAN):c.6945A>G (p.Val2315=)not provided [RCV001467126]likely benign58353994883539948Humanname
127326381CV1116155single nucleotide variantNM_004385.5(VCAN):c.7032C>T (p.Pro2344=)not provided [RCV001468727]likely benign58354003583540035Humanname
127288430CV1116156single nucleotide variantNM_004385.5(VCAN):c.7281A>G (p.Glu2427=)not provided [RCV001450477]likely benign58354028483540284Humanname
127327420CV1116157single nucleotide variantNM_004385.5(VCAN):c.7540A>C (p.Arg2514=)not provided [RCV001469076]likely benign58354054383540543Humanname
127302307CV1116158single nucleotide variantNM_004385.5(VCAN):c.7614A>G (p.Lys2538=)not provided [RCV001454416]likely benign58354061783540617Humanname
127296891CV1116159single nucleotide variantNM_004385.5(VCAN):c.7639C>T (p.Leu2547=)not provided [RCV001452880]likely benign58354064283540642Humanname
127328002CV1116160single nucleotide variantNM_004385.5(VCAN):c.8022C>A (p.Ile2674=)not provided [RCV001469390]likely benign58354102583541025Humanname
127329687CV1116164single nucleotide variantNM_004385.5(VCAN):c.8955G>A (p.Gly2985=)not provided [RCV001470373]likely benign58354195883541958Humanname
127336759CV1116165single nucleotide variantNM_004385.5(VCAN):c.9741C>T (p.Tyr3247=)not provided [RCV001475203]likely benign58357242183572421Humanname
127321842CV1116166single nucleotide variantNM_004385.5(VCAN):c.9891C>G (p.Gly3297=)not provided [RCV001467387]likely benign58357999083579990Humanname
127295665CV1137106single nucleotide variantNM_004385.5(VCAN):c.3459T>C (p.Ser1153=)not provided [RCV001497311]likely benign58352176583521765Humanname
127289329CV1137107single nucleotide variantNM_004385.5(VCAN):c.3460T>C (p.Leu1154=)not provided [RCV001495593]likely benign58352176683521766Humanname
127324513CV1137108single nucleotide variantNM_004385.5(VCAN):c.4068T>G (p.Pro1356=)not provided [RCV001485497]likely benign58353707183537071Humanname
127313926CV1137109single nucleotide variantNM_004385.5(VCAN):c.4092G>A (p.Val1364=)not provided [RCV001482105]likely benign58353709583537095Humanname
127322528CV1137110single nucleotide variantNM_004385.5(VCAN):c.4110A>G (p.Glu1370=)not provided [RCV001484959]likely benign58353711383537113Humanname
127305414CV1137112single nucleotide variantNM_004385.5(VCAN):c.4629T>C (p.Phe1543=)not provided [RCV001499905]likely benign58353763283537632Humanname
127338224CV1137113single nucleotide variantNM_004385.5(VCAN):c.5442A>G (p.Gln1814=)not provided [RCV001493703]likely benign58353844583538445Humanname
127331128CV1137114single nucleotide variantNM_004385.5(VCAN):c.5700C>G (p.Thr1900=)not provided [RCV001488615]likely benign58353870383538703Humanname
127319780CV1137115single nucleotide variantNM_004385.5(VCAN):c.5913A>T (p.Pro1971=)not provided [RCV001483980]likely benign58353891683538916Humanname
127307067CV1137116single nucleotide variantNM_004385.5(VCAN):c.5949A>C (p.Ile1983=)not provided [RCV001500376]likely benign58353895283538952Humanname
127331329CV1137118single nucleotide variantNM_004385.5(VCAN):c.6534T>C (p.Val2178=)not provided [RCV001488722]likely benign58353953783539537Humanname
127315968CV1137120single nucleotide variantNM_004385.5(VCAN):c.6738G>A (p.Glu2246=)not provided [RCV001482644]likely benign58353974183539741Humanname
127286753CV1137121single nucleotide variantNM_004385.5(VCAN):c.7179A>G (p.Glu2393=)not provided [RCV001494545]likely benign58354018283540182Humanname
127312877CV1137123single nucleotide variantNM_004385.5(VCAN):c.8037A>C (p.Thr2679=)not provided [RCV001502035]likely benign58354104083541040Humanname
127296066CV1137124single nucleotide variantNM_004385.5(VCAN):c.8043A>G (p.Thr2681=)not provided [RCV001497394]likely benign58354104683541046Humanname
127324205CV1137125single nucleotide variantNM_004385.5(VCAN):c.8094G>A (p.Lys2698=)not provided [RCV001505620]likely benign58354109783541097Humanname
127311931CV1137126single nucleotide variantNM_004385.5(VCAN):c.9141C>T (p.Asn3047=)not provided [RCV001481571]likely benign58354214483542144Humanname
127315964CV1137127single nucleotide variantNM_004385.5(VCAN):c.9216G>A (p.Leu3072=)not provided [RCV001482643]likely benign58354221983542219Humanname
127336353CV1137128single nucleotide variantNM_004385.5(VCAN):c.9300C>T (p.Asn3100=)not provided [RCV001492096]likely benign58354557183545571Humanname
127315497CV1137129single nucleotide variantNM_004385.5(VCAN):c.9312T>C (p.Cys3104=)VCAN-related disorder [RCV003921019]|not provided [RCV001482540]likely benign58354558383545583Human1name , alternate_id
127328185CV1137131single nucleotide variantNM_004385.5(VCAN):c.9498C>T (p.Thr3166=)not provided [RCV001486664]likely benign58355336883553368Humanname
127336318CV1137132single nucleotide variantNM_004385.5(VCAN):c.9888C>T (p.Cys3296=)not provided [RCV001492077]likely benign58357998783579987Humanname
127290506CV1155214single nucleotide variantNM_004385.5(VCAN):c.3096G>A (p.Gln1032=)not provided [RCV001509864]benign58352140283521402Humanname
127303132CV1155217single nucleotide variantNM_004385.5(VCAN):c.4599A>T (p.Ala1533=)not provided [RCV001515356]benign58353760283537602Humanname
127298417CV1155219single nucleotide variantNM_004385.5(VCAN):c.7626T>C (p.Asn2542=)Wagner syndrome [RCV002488322]|not provided [RCV001513254]benign|likely benign58354062983540629Human1name
127301923CV1155220single nucleotide variantNM_004385.5(VCAN):c.8067G>A (p.Thr2689=)VCAN-related disorder [RCV003956160]|not provided [RCV001514875]benign|likely benign58354107083541070Human1name , alternate_id
127319245CV1155221single nucleotide variantNM_004385.5(VCAN):c.9366C>T (p.Asp3122=)not provided [RCV001522044]benign58354563783545637Humanname
127294631CV1155223single nucleotide variantNM_004385.5(VCAN):c.9954C>T (p.Asn3318=)not provided [RCV001511836]benign58358005383580053Humanname
151868393CV1345512single nucleotide variantNM_004385.5(VCAN):c.520G>T (p.Asp174Tyr)not provided [RCV001924890]uncertain significance58349362083493620Humanname
151880931CV1384760single nucleotide variantNM_004385.5(VCAN):c.301G>T (p.Val101Leu)not provided [RCV001982532]uncertain significance58349032883490328Humanname
151743950CV1401483single nucleotide variantNM_004385.5(VCAN):c.979C>T (p.Arg327Cys)not provided [RCV001947386]uncertain significance58351233383512333Humanname
151667637CV1414451single nucleotide variantNM_004385.5(VCAN):c.524T>C (p.Val175Ala)not provided [RCV001870632]uncertain significance58349362483493624Humanname
151837633CV1417070single nucleotide variantNM_004385.5(VCAN):c.559G>T (p.Ala187Ser)not provided [RCV002014965]uncertain significance58349365983493659Humanname
151807984CV1417797single nucleotide variantNM_004385.5(VCAN):c.697C>T (p.Arg233Cys)not provided [RCV001867731]uncertain significance58349388083493880Humanname
151749758CV1430378single nucleotide variantNM_004385.5(VCAN):c.7059G>A (p.Thr2353=)not provided [RCV002006742]likely benign|uncertain significance58354006283540062Humanname
151770349CV1460478single nucleotide variantNM_004385.5(VCAN):c.7140A>G (p.Gln2380=)not provided [RCV001864016]likely benign|uncertain significance58354014383540143Humanname
151667626CV1460804single nucleotide variantNM_004385.5(VCAN):c.751G>A (p.Asp251Asn)not provided [RCV001888924]uncertain significance58351210583512105Humanname
151724963CV1496720single nucleotide variantNM_004385.5(VCAN):c.6564T>C (p.Asn2188=)not provided [RCV001910216]likely benign58353956783539567Humanname
151852856CV1502006single nucleotide variantNM_004385.5(VCAN):c.8169C>T (p.Ser2723=)not provided [RCV001937587]likely benign|uncertain significance58354117283541172Humanname
151868463CV1514426single nucleotide variantNM_004385.5(VCAN):c.421G>A (p.Asp141Asn)not provided [RCV001998021]uncertain significance58349044883490448Humanname
152045200CV1525685single nucleotide variantNM_004385.5(VCAN):c.4185G>A (p.Glu1395=)not provided [RCV002126576]likely benign58353718883537188Humanname
152175656CV1527030single nucleotide variantNM_004385.5(VCAN):c.8415A>T (p.Pro2805=)not provided [RCV002163792]likely benign58354141883541418Humanname
152058841CV1532017single nucleotide variantNM_004385.5(VCAN):c.7617C>T (p.Pro2539=)not provided [RCV002090018]likely benign58354062083540620Humanname
152141928CV1533033single nucleotide variantNM_004385.5(VCAN):c.9249G>A (p.Thr3083=)VCAN-related disorder [RCV003941286]|not provided [RCV002156885]likely benign58354225283542252Human1name , alternate_id
152041873CV1537835single nucleotide variantNM_004385.5(VCAN):c.5412A>G (p.Ala1804=)not provided [RCV002165795]likely benign58353841583538415Humanname
152059358CV1539233single nucleotide variantNM_004385.5(VCAN):c.3888G>A (p.Val1296=)not provided [RCV002073487]likely benign58352219483522194Humanname
152112436CV1539284single nucleotide variantNM_004385.5(VCAN):c.8607T>C (p.His2869=)not provided [RCV002080433]likely benign58354161083541610Humanname
152176278CV1541358single nucleotide variantNM_004385.5(VCAN):c.6030C>T (p.Gly2010=)not provided [RCV002164423]likely benign58353903383539033Humanname
152158221CV1542195single nucleotide variantNM_004385.5(VCAN):c.5757A>C (p.Ala1919=)not provided [RCV002202977]likely benign58353876083538760Humanname
152098870CV1542493single nucleotide variantNM_004385.5(VCAN):c.5463G>C (p.Leu1821=)VCAN-related disorder [RCV003958555]|not provided [RCV002195278]likely benign58353846683538466Human1name , alternate_id
152144663CV1543162single nucleotide variantNM_004385.5(VCAN):c.6255A>G (p.Ser2085=)not provided [RCV002178536]likely benign58353925883539258Humanname
152145643CV1543309single nucleotide variantNM_004385.5(VCAN):c.3216A>G (p.Ala1072=)not provided [RCV002178683]likely benign58352152283521522Humanname
152171114CV1543962single nucleotide variantNM_004385.5(VCAN):c.3861T>C (p.Ala1287=)not provided [RCV002161995]likely benign58352216783522167Humanname
152115051CV1552579single nucleotide variantNM_004385.5(VCAN):c.5001A>G (p.Thr1667=)not provided [RCV002153547]likely benign58353800483538004Humanname
152133265CV1554219single nucleotide variantNM_004385.5(VCAN):c.6225G>A (p.Lys2075=)not provided [RCV002119356]likely benign58353922883539228Humanname
152045174CV1556071single nucleotide variantNM_004385.5(VCAN):c.6516G>A (p.Glu2172=)not provided [RCV002206844]likely benign58353951983539519Humanname
152078568CV1557751single nucleotide variantNM_004385.5(VCAN):c.9513T>C (p.Tyr3171=)not provided [RCV002170247]likely benign58355338383553383Humanname
152095632CV1559533single nucleotide variantNM_004385.5(VCAN):c.5034A>C (p.Thr1678=)not provided [RCV002213320]likely benign58353803783538037Humanname
152171297CV1562301single nucleotide variantNM_004385.5(VCAN):c.4572G>A (p.Glu1524=)not provided [RCV002183453]likely benign58353757583537575Humanname
152171341CV1562331single nucleotide variantNM_004385.5(VCAN):c.8643G>A (p.Glu2881=)not provided [RCV002183466]likely benign58354164683541646Humanname
152089127CV1563044single nucleotide variantNM_004385.5(VCAN):c.8562C>T (p.Val2854=)not provided [RCV002113826]likely benign58354156583541565Humanname
152158394CV1564406single nucleotide variantNM_004385.5(VCAN):c.4206G>C (p.Val1402=)not provided [RCV002140502]likely benign58353720983537209Humanname
152125154CV1565509single nucleotide variantNM_004385.5(VCAN):c.6687G>A (p.Lys2229=)not provided [RCV002136218]likely benign58353969083539690Humanname
152041375CV1568402single nucleotide variantNM_004385.5(VCAN):c.8808C>T (p.Thr2936=)not provided [RCV002107791]likely benign58354181183541811Humanname
152069205CV1569895single nucleotide variantNM_004385.5(VCAN):c.6174C>G (p.Ser2058=)not provided [RCV002191551]likely benign58353917783539177Humanname
152141131CV1571434single nucleotide variantNM_004385.5(VCAN):c.8358C>T (p.His2786=)not provided [RCV002138191]likely benign58354136183541361Humanname
152141203CV1571482single nucleotide variantNM_004385.5(VCAN):c.6942C>T (p.Leu2314=)not provided [RCV002138201]likely benign58353994583539945Humanname
152053784CV1573349single nucleotide variantNM_004385.5(VCAN):c.5700C>T (p.Thr1900=)not provided [RCV002207836]likely benign58353870383538703Humanname
152172387CV1575819single nucleotide variantNM_004385.5(VCAN):c.7185A>C (p.Thr2395=)VCAN-related disorder [RCV003903582]|not provided [RCV002183823]likely benign58354018883540188Human1name , alternate_id
152119433CV1576019single nucleotide variantNM_004385.5(VCAN):c.5520T>C (p.Ala1840=)not provided [RCV002197845]likely benign58353852383538523Humanname
152148490CV1577027single nucleotide variantNM_004385.5(VCAN):c.6711G>A (p.Pro2237=)not provided [RCV002179084]likely benign58353971483539714Humanname
152167342CV1577422single nucleotide variantNM_004385.5(VCAN):c.3303T>C (p.Ser1101=)not provided [RCV002204683]likely benign58352160983521609Humanname
152100273CV1578718single nucleotide variantNM_004385.5(VCAN):c.5586C>T (p.Ala1862=)not provided [RCV002151727]likely benign58353858983538589Humanname
152155082CV1579591single nucleotide variantNM_004385.5(VCAN):c.4701A>G (p.Glu1567=)not provided [RCV002158744]benign58353770483537704Humanname
152130107CV1582101single nucleotide variantNM_004385.5(VCAN):c.7038G>T (p.Val2346=)not provided [RCV002099368]likely benign58354004183540041Humanname
152065288CV1583396single nucleotide variantNM_004385.5(VCAN):c.3819C>T (p.Thr1273=)not provided [RCV002110699]likely benign58352212583522125Humanname
152129293CV1583876single nucleotide variantNM_004385.5(VCAN):c.3936C>T (p.Pro1312=)not provided [RCV002199107]likely benign58352224283522242Humanname
152128654CV1584168single nucleotide variantNM_004385.5(VCAN):c.4381T>C (p.Leu1461=)not provided [RCV002082563]likely benign58353738483537384Humanname
152025710CV1586501single nucleotide variantNM_004385.5(VCAN):c.8316A>C (p.Ala2772=)not provided [RCV002184911]likely benign58354131983541319Humanname
152062757CV1587631single nucleotide variantNM_004385.5(VCAN):c.5565C>T (p.Asn1855=)not provided [RCV002090457]likely benign58353856883538568Humanname
152043962CV1588468single nucleotide variantNM_004385.5(VCAN):c.3753T>C (p.Ile1251=)not provided [RCV002188616]likely benign58352205983522059Humanname
152164525CV1588487single nucleotide variantNM_004385.5(VCAN):c.9534G>A (p.Gly3178=)not provided [RCV002181554]likely benign58355340483553404Humanname
152091405CV1594293single nucleotide variantNM_004385.5(VCAN):c.3183A>G (p.Thr1061=)not provided [RCV002171870]likely benign58352148983521489Humanname
152136038CV1595073single nucleotide variantNM_004385.5(VCAN):c.7392C>T (p.Ser2464=)not provided [RCV002199953]likely benign58354039583540395Humanname
152091290CV1595843single nucleotide variantNM_004385.5(VCAN):c.8097T>C (p.Ser2699=)not provided [RCV002077747]likely benign58354110083541100Humanname
152092107CV1596053single nucleotide variantNM_004385.5(VCAN):c.3357G>A (p.Val1119=)not provided [RCV002077850]likely benign58352166383521663Humanname
152130824CV1597854single nucleotide variantNM_004385.5(VCAN):c.3927G>A (p.Thr1309=)VCAN-related disorder [RCV003941291]|not provided [RCV002176778]likely benign58352223383522233Human1name , alternate_id
152146578CV1600032single nucleotide variantNM_004385.5(VCAN):c.9552T>C (p.Phe3184=)not provided [RCV002138886]likely benign58355342283553422Humanname
152160558CV1601657single nucleotide variantNM_004385.5(VCAN):c.5103G>T (p.Val1701=)not provided [RCV002180856]likely benign58353810683538106Humanname
152066538CV1601671single nucleotide variantNM_004385.5(VCAN):c.6783A>G (p.Glu2261=)not provided [RCV002168735]likely benign58353978683539786Humanname
152106488CV1605153single nucleotide variantNM_004385.5(VCAN):c.4305A>G (p.Glu1435=)not provided [RCV002196217]likely benign58353730883537308Humanname
152052609CV1607266single nucleotide variantNM_004385.5(VCAN):c.5109C>T (p.Thr1703=)not provided [RCV002109165]likely benign58353811283538112Humanname
152081828CV1607886single nucleotide variantNM_004385.5(VCAN):c.5982C>G (p.Val1994=)not provided [RCV002193119]likely benign58353898583538985Humanname
152162623CV1608947single nucleotide variantNM_004385.5(VCAN):c.6192A>G (p.Ala2064=)not provided [RCV002104087]likely benign58353919583539195Humanname
152130050CV1610475single nucleotide variantNM_004385.5(VCAN):c.5289A>T (p.Thr1763=)not provided [RCV002136811]benign58353829283538292Humanname
152164923CV1611211single nucleotide variantNM_004385.5(VCAN):c.5211A>T (p.Thr1737=)not provided [RCV002141621]likely benign58353821483538214Humanname
152165491CV1611362single nucleotide variantNM_004385.5(VCAN):c.3639A>G (p.Ser1213=)not provided [RCV002141727]likely benign58352194583521945Humanname
152120315CV1612324single nucleotide variantNM_004385.5(VCAN):c.4782T>C (p.Tyr1594=)not provided [RCV002135626]likely benign58353778583537785Humanname
152121606CV1613221single nucleotide variantNM_004385.5(VCAN):c.8016T>C (p.Thr2672=)not provided [RCV002154334]likely benign58354101983541019Humanname
152140143CV1613802single nucleotide variantNM_004385.5(VCAN):c.6787T>C (p.Leu2263=)not provided [RCV002084049]likely benign58353979083539790Humanname
152092022CV1616528single nucleotide variantNM_004385.5(VCAN):c.8310G>A (p.Glu2770=)not provided [RCV002114204]likely benign58354131383541313Humanname
152084723CV1617111single nucleotide variantNM_004385.5(VCAN):c.7803A>C (p.Val2601=)not provided [RCV002076833]likely benign58354080683540806Humanname
152030276CV1622113single nucleotide variantNM_004385.5(VCAN):c.3918G>A (p.Ala1306=)not provided [RCV002186429]likely benign58352222483522224Humanname
152109168CV1623577single nucleotide variantNM_004385.5(VCAN):c.7059G>C (p.Thr2353=)not provided [RCV002215238]likely benign58354006283540062Humanname
152104246CV1624637single nucleotide variantNM_004385.5(VCAN):c.5523T>A (p.Ala1841=)not provided [RCV002173499]likely benign58353852683538526Humanname
152104151CV1625745single nucleotide variantNM_004385.5(VCAN):c.9138A>G (p.Val3046=)not provided [RCV002152171]likely benign58354214183542141Humanname
152156254CV1629697single nucleotide variantNM_004385.5(VCAN):c.4377G>A (p.Thr1459=)not provided [RCV002202701]likely benign58353738083537380Humanname
152078907CV1632256single nucleotide variantNM_004385.5(VCAN):c.3915G>A (p.Gln1305=)not provided [RCV002130587]likely benign58352222183522221Humanname
152033885CV1634626single nucleotide variantNM_004385.5(VCAN):c.3540A>G (p.Leu1180=)Wagner syndrome [RCV003138066]|not provided [RCV002086878]likely benign|uncertain significance58352184683521846Human1name
152128819CV1637371single nucleotide variantNM_004385.5(VCAN):c.8874T>C (p.Thr2958=)not provided [RCV002217783]likely benign58354187783541877Humanname
152070595CV1638636single nucleotide variantNM_004385.5(VCAN):c.8146C>T (p.Leu2716=)not provided [RCV002075050]likely benign58354114983541149Humanname
152123963CV1641212single nucleotide variantNM_004385.5(VCAN):c.9549C>T (p.Tyr3183=)not provided [RCV002098549]likely benign58355341983553419Humanname
152084896CV1645124single nucleotide variantNM_004385.5(VCAN):c.5280T>C (p.Asn1760=)VCAN-related disorder [RCV003978836]|not provided [RCV002131304]likely benign58353828383538283Human1name , alternate_id
152133552CV1646481single nucleotide variantNM_004385.5(VCAN):c.3681C>T (p.Ser1227=)not provided [RCV002137245]likely benign58352198783521987Humanname
152098015CV1650271single nucleotide variantNM_004385.5(VCAN):c.4182A>G (p.Glu1394=)not provided [RCV002114956]likely benign58353718583537185Humanname
152147165CV1656069single nucleotide variantNM_004385.5(VCAN):c.9357C>T (p.Tyr3119=)not provided [RCV002220227]likely benign58354562883545628Humanname
152147793CV1656241single nucleotide variantNM_004385.5(VCAN):c.8448A>T (p.Thr2816=)VCAN-related disorder [RCV003968801]|not provided [RCV002220320]likely benign58354145183541451Human1name , alternate_id
152085378CV1663251single nucleotide variantNM_004385.5(VCAN):c.6948T>G (p.Ser2316=)not provided [RCV002171103]likely benign58353995183539951Humanname
152062836CV1663785single nucleotide variantNM_004385.5(VCAN):c.9687T>C (p.Asn3229=)not provided [RCV002073885]likely benign58355499083554990Humanname
152113734CV1665469single nucleotide variantNM_004385.5(VCAN):c.9333C>T (p.Tyr3111=)not provided [RCV002097193]likely benign58354560483545604Humanname
155663980CV1773204single nucleotide variantNM_004385.5(VCAN):c.697C>A (p.Arg233Ser)not provided [RCV002296916]uncertain significance58349388083493880Humanname
155688467CV1775031single nucleotide variantNM_004385.5(VCAN):c.349G>T (p.Val117Leu)not provided [RCV002294769]uncertain significance58349037683490376Humanname
9688823CV178144single nucleotide variantNM_004385.5(VCAN):c.5187G>A (p.Glu1729=)Vitreoretinopathy [RCV000393526]|Wagner syndrome [RCV000302966]|not provided [RCV000960144]|not specified [RCV000154118]benign|likely benign|conflicting interpretations of pathogenicity58353819083538190Human3name
9688823CV178144single nucleotide variantNM_004385.5(VCAN):c.5187G>A (p.Glu1729=)Vitreoretinopathy [RCV000393526]|Wagner syndrome [RCV000302966]|not provided [RCV000960144]|not specified [RCV000154118]benign|likely benign|conflicting interpretations of pathogenicity58353819083538191Human3name
9688825CV178145single nucleotide variantNM_004385.5(VCAN):c.5808T>C (p.Gly1936=)Vitreoretinopathy [RCV000381744]|Wagner syndrome [RCV000286138]|not provided [RCV001509767]|not specified [RCV000154120]benign58353881183538811Human2name
9693445CV178146single nucleotide variantNM_004385.5(VCAN):c.5859G>T (p.Thr1953=)VCAN-related disorder [RCV004745218]|Vitreoretinopathy [RCV000392005]|Wagner syndrome [RCV000312052]|not provided [RCV000154121]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance58353886283538862Human2name , alternate_id
9693446CV178147single nucleotide variantNM_004385.5(VCAN):c.7065C>T (p.Ile2355=)VCAN-related disorder [RCV003952757]|not provided [RCV000154122]likely benign|conflicting interpretations of pathogenicity|uncertain significance58354006883540068Human1name , alternate_id
156408722CV1911740single nucleotide variantNM_004385.5(VCAN):c.415A>G (p.Thr139Ala)not provided [RCV002607326]uncertain significance58349044283490442Humanname
156063014CV1931148single nucleotide variantNM_004385.5(VCAN):c.7263A>G (p.Pro2421=)not provided [RCV002638349]likely benign58354026683540266Humanname
156439218CV1944085single nucleotide variantNM_004385.5(VCAN):c.852G>T (p.Gln284His)not provided [RCV003109176]uncertain significance58351220683512206Humanname
10048992CV195331single nucleotide variantNM_004385.5(VCAN):c.899C>T (p.Ser300Leu)Vitreoretinopathy [RCV000270061]|Wagner syndrome [RCV000324965]|not provided [RCV001511566]|not specified [RCV000179438]benign58351225383512253Human2name
10049171CV195957single nucleotide variantNM_004385.5(VCAN):c.6723A>G (p.Arg2241=)Vitreoretinopathy [RCV000302059]|Wagner syndrome [RCV000338406]|not provided [RCV001509768]|not specified [RCV000180248]benign58353972683539726Human2name
10049173CV195959single nucleotide variantNM_004385.5(VCAN):c.8622G>A (p.Ala2874=)Vitreoretinopathy [RCV000308635]|Wagner syndrome [RCV000365782]|not provided [RCV000953050]|not specified [RCV000180250]benign|likely benign58354162583541625Human2name
10049176CV195963single nucleotide variantNM_004385.5(VCAN):c.4323G>A (p.Gln1441=)Vitreoretinopathy [RCV000297799]|Wagner syndrome [RCV000267291]|not provided [RCV001511634]|not specified [RCV000180254]benign58353732683537326Human2name
10053221CV195965single nucleotide variantNM_004385.5(VCAN):c.8859A>C (p.Thr2953=)not provided [RCV000180256]uncertain significance58354186283541862Humanname
156390811CV1964836single nucleotide variantNM_004385.5(VCAN):c.5394A>G (p.Thr1798=)not provided [RCV002583852]likely benign58353839783538397Humanname
156195100CV1970970single nucleotide variantNM_004385.5(VCAN):c.5772T>C (p.Phe1924=)not provided [RCV002625541]likely benign58353877583538775Humanname
156163373CV1971335single nucleotide variantNM_004385.5(VCAN):c.8811T>C (p.Asp2937=)not provided [RCV002594543]likely benign58354181483541814Humanname
156416271CV1976501single nucleotide variantNM_004385.5(VCAN):c.7971T>C (p.Tyr2657=)VCAN-related disorder [RCV003896250]|not provided [RCV002589613]likely benign58354097483540974Human1name , alternate_id
156059609CV1978899single nucleotide variantNM_004385.5(VCAN):c.846A>T (p.Glu282Asp)not provided [RCV002590931]uncertain significance58351220083512200Humanname
156075795CV1979200single nucleotide variantNM_004385.5(VCAN):c.347C>T (p.Thr116Ile)Inborn genetic diseases [RCV005301162]|not provided [RCV002621385]uncertain significance58349037483490374Human1name
156076720CV1979292single nucleotide variantNM_004385.5(VCAN):c.5193T>C (p.Thr1731=)not provided [RCV002621412]likely benign58353819683538196Humanname
156351166CV1985616single nucleotide variantNM_004385.5(VCAN):c.4218A>G (p.Pro1406=)not provided [RCV002631988]likely benign58353722183537221Humanname
156075872CV1985634single nucleotide variantNM_004385.5(VCAN):c.979C>G (p.Arg327Gly)not provided [RCV002638740]uncertain significance58351233383512333Humanname
156077967CV1985885single nucleotide variantNM_004385.5(VCAN):c.7593C>T (p.Thr2531=)not provided [RCV002638803]likely benign58354059683540596Humanname
155996517CV1986927single nucleotide variantNM_004385.5(VCAN):c.8220A>G (p.Thr2740=)not provided [RCV002618255]likely benign58354122383541223Humanname
156331929CV1987257single nucleotide variantNM_004385.5(VCAN):c.6171A>G (p.Arg2057=)not provided [RCV002630979]likely benign58353917483539174Humanname
156232277CV1991922single nucleotide variantNM_004385.5(VCAN):c.9102A>T (p.Ala3034=)not provided [RCV002626836]likely benign58354210583542105Humanname
156114464CV1993824single nucleotide variantNM_004385.5(VCAN):c.8844T>C (p.Phe2948=)not provided [RCV002662616]likely benign58354184783541847Humanname
156124397CV1995218single nucleotide variantNM_004385.5(VCAN):c.4461T>C (p.Pro1487=)VCAN-related disorder [RCV003936289]|not provided [RCV002662980]likely benign58353746483537464Human1name , alternate_id
156134569CV1998789single nucleotide variantNM_004385.5(VCAN):c.6021A>G (p.Ser2007=)not provided [RCV002663344]likely benign58353902483539024Humanname
156290468CV2001832single nucleotide variantNM_004385.5(VCAN):c.6198G>A (p.Val2066=)not provided [RCV002670746]likely benign58353920183539201Humanname
156202695CV2004266single nucleotide variantNM_004385.5(VCAN):c.980G>A (p.Arg327His)Inborn genetic diseases [RCV004066700]|not provided [RCV002666551]uncertain significance58351233483512334Human1name
156296986CV2005395single nucleotide variantNM_004385.5(VCAN):c.3684G>A (p.Ala1228=)not provided [RCV002670991]likely benign58352199083521990Humanname
156358020CV2006745single nucleotide variantNM_004385.5(VCAN):c.4521T>C (p.His1507=)not provided [RCV002676057]likely benign58353752483537524Humanname
156112600CV2008716single nucleotide variantNM_004385.5(VCAN):c.8268T>C (p.His2756=)not provided [RCV002695729]likely benign58354127183541271Humanname
156014334CV2009047single nucleotide variantNM_004385.5(VCAN):c.6372G>A (p.Lys2124=)not provided [RCV002690685]likely benign58353937583539375Humanname
156201450CV2010929single nucleotide variantNM_004385.5(VCAN):c.4099C>T (p.Leu1367=)not provided [RCV002700293]likely benign58353710283537102Humanname
156084547CV2012149single nucleotide variantNM_004385.5(VCAN):c.467C>T (p.Ala156Val)not provided [RCV002706101]uncertain significance58349356783493567Humanname
156013113CV2013158single nucleotide variantNM_004385.5(VCAN):c.6291A>G (p.Leu2097=)not provided [RCV002735000]likely benign58353929483539294Humanname
155911448CV2014718single nucleotide variantNM_004385.5(VCAN):c.3042G>A (p.Ala1014=)not provided [RCV002681750]likely benign58352134883521348Humanname
156360656CV2016621single nucleotide variantNM_004385.5(VCAN):c.8550A>G (p.Pro2850=)not provided [RCV002720836]likely benign58354155383541553Humanname
156393455CV2019165deletionNM_004385.5(VCAN):c.2406del (p.Lys802fs)not provided [RCV002725283]uncertain significance58352070983520709Humanname
155922474CV2023964single nucleotide variantNM_004385.5(VCAN):c.643G>A (p.Val215Ile)not provided [RCV002750780]uncertain significance58349382683493826Humanname
156375558CV2024668single nucleotide variantNM_004385.5(VCAN):c.8895A>G (p.Glu2965=)not provided [RCV002721891]likely benign58354189883541898Humanname
155920302CV2027369single nucleotide variantNM_004385.5(VCAN):c.7668G>A (p.Leu2556=)not provided [RCV002750685]likely benign58354067183540671Humanname
156072979CV2029030single nucleotide variantNM_004385.5(VCAN):c.8250G>A (p.Glu2750=)not provided [RCV002760378]likely benign58354125383541253Humanname
155983886CV2030289single nucleotide variantNM_004385.5(VCAN):c.4935A>G (p.Ala1645=)not provided [RCV002755449]likely benign58353793883537938Humanname
156119018CV2039260single nucleotide variantNM_004385.5(VCAN):c.4641T>G (p.Ser1547=)not provided [RCV002800149]likely benign58353764483537644Humanname
156157878CV2049387single nucleotide variantNM_004385.5(VCAN):c.8445A>G (p.Ser2815=)not provided [RCV002801519]likely benign58354144883541448Humanname
156277875CV2053687single nucleotide variantNM_004385.5(VCAN):c.3618T>C (p.Asp1206=)not provided [RCV002806889]likely benign58352192483521924Humanname
155941594CV2055018single nucleotide variantNM_004385.5(VCAN):c.696C>A (p.Phe232Leu)not provided [RCV002815731]uncertain significance58349387983493879Humanname
156000377CV2057398single nucleotide variantNM_004385.5(VCAN):c.5172A>G (p.Lys1724=)not provided [RCV002819621]likely benign58353817583538175Humanname
156116567CV2058505single nucleotide variantNM_004385.5(VCAN):c.7248A>G (p.Thr2416=)not provided [RCV002825129]likely benign58354025183540251Humanname
156033798CV2059284single nucleotide variantNM_004385.5(VCAN):c.670A>G (p.Lys224Glu)not provided [RCV002796165]uncertain significance58349385383493853Humanname
156107171CV2061898single nucleotide variantNM_004385.5(VCAN):c.5070T>C (p.Tyr1690=)not provided [RCV002824775]likely benign58353807383538073Humanname
155916646CV2063194single nucleotide variantNM_004385.5(VCAN):c.8415A>G (p.Pro2805=)not provided [RCV002838098]likely benign58354141883541418Humanname
156228979CV2064525single nucleotide variantNM_004385.5(VCAN):c.4509A>G (p.Thr1503=)not provided [RCV002829975]likely benign58353751283537512Humanname
156288054CV2068638single nucleotide variantNM_004385.5(VCAN):c.5733A>G (p.Arg1911=)not provided [RCV002856634]likely benign58353873683538736Humanname
156163773CV2070819single nucleotide variantNM_004385.5(VCAN):c.9477T>C (p.Gly3159=)not provided [RCV002851310]likely benign58354806883548068Humanname
156127190CV2072799single nucleotide variantNM_004385.5(VCAN):c.3903C>A (p.Ala1301=)not provided [RCV002825531]likely benign58352220983522209Humanname
156278131CV2074440single nucleotide variantNM_004385.5(VCAN):c.877C>A (p.Gln293Lys)not provided [RCV002856286]uncertain significance58351223183512231Humanname
155969290CV2077105single nucleotide variantNM_004385.5(VCAN):c.8076C>T (p.Ser2692=)not provided [RCV002863236]likely benign58354107983541079Humanname
155913050CV2081426single nucleotide variantNM_004385.5(VCAN):c.4770T>A (p.Ser1590=)not provided [RCV002858627]likely benign58353777383537773Humanname
156021437CV2082773single nucleotide variantNM_004385.5(VCAN):c.6306A>G (p.Glu2102=)not provided [RCV002884978]likely benign58353930983539309Humanname
156132645CV2085014single nucleotide variantNM_004385.5(VCAN):c.3213A>G (p.Ser1071=)not provided [RCV002871693]likely benign58352151983521519Humanname
156213259CV2087325single nucleotide variantNM_004385.5(VCAN):c.7584G>A (p.Glu2528=)not provided [RCV002852910]likely benign58354058783540587Humanname
156237443CV2090262single nucleotide variantNM_004385.5(VCAN):c.6753C>T (p.Leu2251=)not provided [RCV002894789]likely benign58353975683539756Humanname
156063634CV2096372single nucleotide variantNM_004385.5(VCAN):c.7329C>T (p.His2443=)not provided [RCV002886589]benign58354033283540332Humanname
156151299CV2100310single nucleotide variantNM_004385.5(VCAN):c.8919G>A (p.Gln2973=)not provided [RCV002872328]likely benign58354192283541922Humanname
156129054CV2104373single nucleotide variantNM_004385.5(VCAN):c.6774A>G (p.Ser2258=)not provided [RCV002914482]likely benign58353977783539777Humanname
156145559CV2109651single nucleotide variantNM_004385.5(VCAN):c.4503C>T (p.Phe1501=)not provided [RCV002915069]likely benign58353750683537506Humanname
156229223CV2111801deletionNM_004385.5(VCAN):c.2032del (p.Thr678fs)not provided [RCV002918868]uncertain significance58352033683520336Humanname
156380066CV2117909single nucleotide variantNM_004385.5(VCAN):c.8559C>T (p.Asp2853=)not provided [RCV002943072]likely benign58354156283541562Humanname
156118615CV2128413single nucleotide variantNM_004385.5(VCAN):c.4905G>A (p.Ser1635=)not provided [RCV002953410]likely benign58353790883537908Humanname
156355736CV2129891single nucleotide variantNM_004385.5(VCAN):c.5847A>G (p.Ala1949=)not provided [RCV002966643]likely benign58353885083538850Humanname
156271067CV2135327single nucleotide variantNM_004385.5(VCAN):c.9468T>C (p.Ser3156=)not provided [RCV002988824]likely benign58354805983548059Humanname
156318585CV2137894single nucleotide variantNM_004385.5(VCAN):c.536T>C (p.Ile179Thr)not provided [RCV002963049]uncertain significance58349363683493636Humanname
155910919CV2141608single nucleotide variantNM_004385.5(VCAN):c.6663A>G (p.Val2221=)not provided [RCV002968044]likely benign58353966683539666Humanname
156201471CV2150012single nucleotide variantNM_004385.5(VCAN):c.5664T>C (p.Ser1888=)not provided [RCV003006339]likely benign58353866783538667Humanname
156155415CV2150769single nucleotide variantNM_004385.5(VCAN):c.3858T>A (p.Pro1286=)not provided [RCV003023000]likely benign58352216483522164Humanname
156095431CV2152092single nucleotide variantNM_004385.5(VCAN):c.4875A>G (p.Arg1625=)not provided [RCV003020845]likely benign58353787883537878Humanname
156049058CV2154198single nucleotide variantNM_004385.5(VCAN):c.3238T>C (p.Leu1080=)not provided [RCV003019333]likely benign58352154483521544Humanname
155943558CV2154500single nucleotide variantNM_004385.5(VCAN):c.353T>C (p.Val118Ala)not provided [RCV003014426]uncertain significance58349038083490380Humanname
156238741CV2156029single nucleotide variantNM_004385.5(VCAN):c.698G>A (p.Arg233His)not provided [RCV003008021]uncertain significance58349388183493881Humanname
156028997CV2156267single nucleotide variantNM_004385.5(VCAN):c.5461C>T (p.Leu1821=)not provided [RCV003018591]likely benign58353846483538464Humanname
156142074CV2163802single nucleotide variantNM_004385.5(VCAN):c.8394G>C (p.Val2798=)not provided [RCV003022557]likely benign58354139783541397Humanname
156278044CV2164526single nucleotide variantNM_004385.5(VCAN):c.9747T>C (p.Asn3249=)not provided [RCV003027220]likely benign58357242783572427Humanname
156120410CV2174869single nucleotide variantNM_004385.5(VCAN):c.3786C>T (p.Thr1262=)not provided [RCV003055443]likely benign58352209283522092Humanname
156365043CV2176883single nucleotide variantNM_004385.5(VCAN):c.7242T>C (p.Phe2414=)not provided [RCV003049287]likely benign58354024583540245Humanname
156109117CV2177226single nucleotide variantNM_004385.5(VCAN):c.9489G>A (p.Glu3163=)not provided [RCV003055020]likely benign58354808083548080Humanname
156337050CV2178244single nucleotide variantNM_004385.5(VCAN):c.631C>T (p.Arg211Trp)not provided [RCV003047534]uncertain significance58349381483493814Humanname
156088280CV2180767single nucleotide variantNM_004385.5(VCAN):c.541A>G (p.Thr181Ala)not provided [RCV003054267]uncertain significance58349364183493641Humanname
156169577CV2317091single nucleotide variantNM_004385.5(VCAN):c.707A>G (p.Gln236Arg)Inborn genetic diseases [RCV002929764]uncertain significance58349389083493890Human1name
156434898CV2403181single nucleotide variantNM_004385.5(VCAN):c.370G>C (p.Asp124His)not provided [RCV003127137]uncertain significance58349039783490397Humanname
11547178CV252022single nucleotide variantNM_004385.5(VCAN):c.574G>A (p.Gly192Arg)Vitreoretinopathy [RCV000327572]|Wagner syndrome [RCV000288000]|not provided [RCV000883917]|not specified [RCV000247425]benign|likely benign58349367483493674Human2name
11551402CV252026single nucleotide variantNM_004385.5(VCAN):c.4422T>C (p.Thr1474=)Vitreoretinopathy [RCV001157098]|Wagner syndrome [RCV001155418]|not provided [RCV000953049]|not specified [RCV000253002]benign58353742583537425Human2name
11549109CV252027single nucleotide variantNM_004385.5(VCAN):c.4569A>G (p.Thr1523=)Vitreoretinopathy [RCV000388690]|Wagner syndrome [RCV000296712]|not provided [RCV001518279]|not specified [RCV000249983]benign58353757283537572Human2name
11547422CV252031single nucleotide variantNM_004385.5(VCAN):c.6123C>T (p.Ile2041=)Vitreoretinopathy [RCV000353774]|Wagner syndrome [RCV000263690]|not provided [RCV000883179]|not specified [RCV000247738]benign58353912683539126Human2name
11551147CV252032single nucleotide variantNM_004385.5(VCAN):c.6237G>A (p.Lys2079=)Vitreoretinopathy [RCV000385578]|Wagner syndrome [RCV000296032]|not provided [RCV000883180]|not specified [RCV000252669]benign|likely benign58353924083539240Human2name
11548051CV252034single nucleotide variantNM_004385.5(VCAN):c.9075G>A (p.Thr3025=)Vitreoretinopathy [RCV000395619]|Wagner syndrome [RCV000289109]|not provided [RCV001521479]|not specified [RCV000248577]benign58354207883542078Human2name
11545759CV252035single nucleotide variantNM_004385.5(VCAN):c.9234G>A (p.Glu3078=)Vitreoretinopathy [RCV000314884]|Wagner syndrome [RCV000352970]|not provided [RCV000883146]|not specified [RCV000245573]benign|likely benign58354223783542237Human2name
11543468CV252037single nucleotide variantNM_004385.5(VCAN):c.9630C>T (p.His3210=)Vitreoretinopathy [RCV000400708]|Wagner syndrome [RCV000301243]|not provided [RCV001515549]|not specified [RCV000242499]benign58355350083553500Human2name
11545997CV252038single nucleotide variantNM_004385.5(VCAN):c.9882C>T (p.Val3294=)Vitreoretinopathy [RCV000269869]|Wagner syndrome [RCV000308582]|not provided [RCV001515550]|not specified [RCV000245890]benign58357998183579981Human2name
401898324CV2787627single nucleotide variantNM_004385.5(VCAN):c.806A>C (p.Glu269Ala)Inborn genetic diseases [RCV003376476]uncertain significance58351216083512160Human1name
401917751CV2827875single nucleotide variantNM_004385.5(VCAN):c.3060T>C (p.Thr1020=)not provided [RCV003429697]likely benign58352136683521366Humanname
401917752CV2827876single nucleotide variantNM_004385.5(VCAN):c.4383G>A (p.Leu1461=)not provided [RCV003429698]likely benign58353738683537386Humanname
402477054CV2857293single nucleotide variantNM_004385.5(VCAN):c.913C>A (p.Arg305Ser)not provided [RCV003543456]uncertain significance58351226783512267Humanname
402513274CV2860163single nucleotide variantNM_004385.5(VCAN):c.7146T>C (p.Ser2382=)not provided [RCV003575281]likely benign58354014983540149Humanname
402470893CV2904328single nucleotide variantNM_004385.5(VCAN):c.505C>G (p.Gln169Glu)not provided [RCV003570459]uncertain significance58349360583493605Humanname
405221528CV2908186single nucleotide variantNM_004385.5(VCAN):c.640A>G (p.Arg214Gly)not provided [RCV003568512]uncertain significance58349382383493823Humanname
405180023CV2908572single nucleotide variantNM_004385.5(VCAN):c.5337A>T (p.Pro1779=)not provided [RCV003563862]likely benign58353834083538340Humanname
405040036CV2929887single nucleotide variantNM_004385.5(VCAN):c.6033A>T (p.Ser2011=)not provided [RCV003579000]likely benign58353903683539036Humanname
405068293CV2936844single nucleotide variantNM_004385.5(VCAN):c.9507T>C (p.Cys3169=)not provided [RCV003659265]likely benign58355337783553377Humanname
402488594CV2941526single nucleotide variantNM_004385.5(VCAN):c.3522C>T (p.Ser1174=)not provided [RCV003660266]likely benign58352182883521828Humanname
402483923CV2944824single nucleotide variantNM_004385.5(VCAN):c.4167T>C (p.Asn1389=)not provided [RCV003659899]likely benign58353717083537170Humanname
402485282CV2945000single nucleotide variantNM_004385.5(VCAN):c.8619A>G (p.Glu2873=)not provided [RCV003660015]likely benign58354162283541622Humanname
405183332CV2952767single nucleotide variantNM_004385.5(VCAN):c.6459A>T (p.Thr2153=)not provided [RCV003676442]likely benign58353946283539462Humanname
405118995CV2955825single nucleotide variantNM_004385.5(VCAN):c.8391T>C (p.Asp2797=)not provided [RCV003671192]likely benign58354139483541394Humanname
405148867CV2960248single nucleotide variantNM_004385.5(VCAN):c.6795T>C (p.Thr2265=)not provided [RCV003669907]likely benign58353979883539798Humanname
405189098CV2974204single nucleotide variantNM_004385.5(VCAN):c.9105G>A (p.Ala3035=)not provided [RCV003676984]likely benign58354210883542108Humanname
405186918CV2977547single nucleotide variantNM_004385.5(VCAN):c.6942C>A (p.Leu2314=)not provided [RCV003706102]likely benign58353994583539945Humanname
405200305CV2978789single nucleotide variantNM_004385.5(VCAN):c.910G>T (p.Val304Leu)not provided [RCV003678118]uncertain significance58351226483512264Humanname
11586899CV298250single nucleotide variantNM_004385.5(VCAN):c.4236T>C (p.Asn1412=)Vitreoretinopathy [RCV000291341]|Wagner syndrome [RCV000343772]uncertain significance58353723983537239Human2name
11589779CV298251single nucleotide variantNM_004385.5(VCAN):c.4248C>T (p.Leu1416=)Vitreoretinopathy [RCV000391382]|Wagner syndrome [RCV000313457]|not provided [RCV003766038]likely benign|uncertain significance58353725183537251Human2name
11584714CV298252single nucleotide variantNM_004385.5(VCAN):c.5202G>A (p.Thr1734=)Vitreoretinopathy [RCV000363620]|Wagner syndrome [RCV000275987]|not provided [RCV002058538]benign|likely benign58353820583538205Human2name
11589019CV298258single nucleotide variantNM_004385.5(VCAN):c.5526C>T (p.Ala1842=)Vitreoretinopathy [RCV000407313]|Wagner syndrome [RCV000307734]|not provided [RCV001522671]benign|likely benign58353852983538529Human2name
402507096CV2982601single nucleotide variantNM_004385.5(VCAN):c.8016T>G (p.Thr2672=)not provided [RCV003689166]likely benign58354101983541019Humanname
11586370CV298274single nucleotide variantNM_004385.5(VCAN):c.7035G>A (p.Thr2345=)Vitreoretinopathy [RCV000287202]|Wagner syndrome [RCV000342202]|not provided [RCV001494339]benign|likely benign|uncertain significance58354003883540038Human2name
11646160CV298285single nucleotide variantNM_004385.5(VCAN):c.8064C>T (p.Pro2688=)Vitreoretinopathy [RCV000361839]|Wagner syndrome [RCV000269462]uncertain significance58354106783541067Human2name
404982982CV2982997single nucleotide variantNM_004385.5(VCAN):c.6375A>G (p.Ser2125=)not provided [RCV003691411]likely benign58353937883539378Humanname
405194222CV2985936single nucleotide variantNM_004385.5(VCAN):c.9189G>A (p.Leu3063=)not provided [RCV003706746]likely benign58354219283542192Humanname
405254922CV3000036single nucleotide variantNM_004385.5(VCAN):c.4884A>C (p.Val1628=)not provided [RCV003723230]likely benign58353788783537887Humanname
405249476CV3000733single nucleotide variantNM_004385.5(VCAN):c.8172T>A (p.Thr2724=)not provided [RCV003721356]likely benign58354117583541175Humanname
405077916CV3004386single nucleotide variantNM_004385.5(VCAN):c.7167A>G (p.Ala2389=)not provided [RCV003716907]likely benign58354017083540170Humanname
11582891CV300559single nucleotide variantNM_004385.5(VCAN):c.4272A>G (p.Pro1424=)Vitreoretinopathy [RCV000312321]|Wagner syndrome [RCV000262927]|not provided [RCV001519151]benign|likely benign58353727583537275Human2name
11584251CV300560single nucleotide variantNM_004385.5(VCAN):c.5190A>G (p.Gly1730=)Vitreoretinopathy [RCV000364637]|Wagner syndrome [RCV000272332]|not provided [RCV001521422]benign|likely benign58353819383538193Human2name
11587279CV300564single nucleotide variantNM_004385.5(VCAN):c.5427C>T (p.His1809=)Vitreoretinopathy [RCV000385659]|Wagner syndrome [RCV000293771]uncertain significance58353843083538430Human2name
11586720CV300565single nucleotide variantNM_004385.5(VCAN):c.6201A>G (p.Glu2067=)Vitreoretinopathy [RCV000384310]|Wagner syndrome [RCV000290025]uncertain significance58353920483539204Human2name
11587735CV300570single nucleotide variantNM_004385.5(VCAN):c.6672T>C (p.Asp2224=)VCAN-related disorder [RCV003922562]|Vitreoretinopathy [RCV000297502]|Wagner syndrome [RCV000350986]|not provided [RCV002058539]likely benign58353967583539675Human2name , alternate_id
11589722CV300584single nucleotide variantNM_004385.5(VCAN):c.7419C>T (p.Ser2473=)Vitreoretinopathy [RCV000312703]|Wagner syndrome [RCV000367858]|not provided [RCV000953217]|not specified [RCV001700343]benign|likely benign|conflicting interpretations of pathogenicity58354042283540422Human2name
11586200CV300597single nucleotide variantNM_004385.5(VCAN):c.8454G>A (p.Ala2818=)Vitreoretinopathy [RCV000343694]|Wagner syndrome [RCV000286348]|not provided [RCV001459128]likely benign|uncertain significance58354145783541457Human2name
405029549CV3012523single nucleotide variantNM_004385.5(VCAN):c.3843G>T (p.Thr1281=)not provided [RCV003695462]likely benign58352214983522149Humanname
405162733CV3017931single nucleotide variantNM_004385.5(VCAN):c.775A>G (p.Ser259Gly)not provided [RCV003704080]uncertain significance58351212983512129Humanname
405095615CV3022959single nucleotide variantNM_004385.5(VCAN):c.5805T>C (p.Ser1935=)not provided [RCV003700063]likely benign58353880883538808Humanname
405092268CV3026030single nucleotide variantNM_004385.5(VCAN):c.5325C>T (p.Ser1775=)not provided [RCV003699815]likely benign58353832883538328Humanname
405077211CV3031742single nucleotide variantNM_004385.5(VCAN):c.7113T>C (p.Thr2371=)not provided [RCV003698671]likely benign58354011683540116Humanname
402502044CV3035473single nucleotide variantNM_004385.5(VCAN):c.8637A>G (p.Ser2879=)not provided [RCV003714791]likely benign58354164083541640Humanname
405226764CV3039476single nucleotide variantNM_004385.5(VCAN):c.8475A>G (p.Pro2825=)not provided [RCV003710838]likely benign58354147883541478Humanname
402512987CV3039802single nucleotide variantNM_004385.5(VCAN):c.6579C>T (p.Tyr2193=)not provided [RCV003715839]likely benign58353958283539582Humanname
405185684CV3040421single nucleotide variantNM_004385.5(VCAN):c.952G>T (p.Gly318Cys)not provided [RCV003705992]uncertain significance58351230683512306Humanname
11599236CV304792single nucleotide variantNM_004385.5(VCAN):c.854C>T (p.Ala285Val)Inborn genetic diseases [RCV002523535]|Retinal dystrophy [RCV004816603]|VCAN-related disorder [RCV003950257]|Vitreoretinopathy [RCV000310020]|Wagner syndrome [RCV000264151]|not provided [RCV001393558]benign|likely benign|uncertain significance58351220883512208Human5name , alternate_id
11603721CV304797single nucleotide variantNM_004385.5(VCAN):c.3204C>T (p.Gly1068=)Vitreoretinopathy [RCV000346043]|Wagner syndrome [RCV000302912]|not provided [RCV002520389]likely benign|uncertain significance58352151083521510Human2name
11604167CV304798single nucleotide variantNM_004385.5(VCAN):c.3264A>G (p.Pro1088=)Vitreoretinopathy [RCV000363539]|Wagner syndrome [RCV000306647]uncertain significance58352157083521570Human2name
11604169CV304808single nucleotide variantNM_004385.5(VCAN):c.7374A>G (p.Thr2458=)Vitreoretinopathy [RCV000366258]|Wagner syndrome [RCV000306949]|not provided [RCV001523226]benign|likely benign58354037783540377Human2name
11602157CV304823single nucleotide variantNM_004385.5(VCAN):c.7551C>T (p.Asp2517=)Vitreoretinopathy [RCV000288627]|Wagner syndrome [RCV000343627]|not provided [RCV001512068]|not specified [RCV001700082]benign|likely benign58354055483540554Human2name
11602305CV304824single nucleotide variantNM_004385.5(VCAN):c.7581C>T (p.Phe2527=)Vitreoretinopathy [RCV000289927]|Wagner syndrome [RCV000349681]|not provided [RCV001435400]|not specified [RCV001699386]benign|likely benign58354058483540584Human2name
11604999CV304828single nucleotide variantNM_004385.5(VCAN):c.7638C>T (p.Asp2546=)Vitreoretinopathy [RCV000314685]|Wagner syndrome [RCV000350897]|not provided [RCV001517019]benign|likely benign58354064183540641Human2name
11599561CV304838single nucleotide variantNM_004385.5(VCAN):c.7743T>C (p.Asp2581=)Vitreoretinopathy [RCV000302128]|Wagner syndrome [RCV000266778]|not provided [RCV000966187]benign58354074683540746Human2name
11601815CV305073single nucleotide variantNM_004385.5(VCAN):c.3201G>A (p.Glu1067=)Vitreoretinopathy [RCV000342394]|Wagner syndrome [RCV000285361]|not provided [RCV001523228]benign|likely benign58352150783521507Human2name
11600710CV305077single nucleotide variantNM_004385.5(VCAN):c.3282A>G (p.Pro1094=)Vitreoretinopathy [RCV000314891]|Wagner syndrome [RCV000276062]|not provided [RCV001433296]benign|likely benign58352158883521588Human2name
11646275CV305078single nucleotide variantNM_004385.5(VCAN):c.6169A>C (p.Arg2057=)Vitreoretinopathy [RCV000323783]|Wagner syndrome [RCV000270062]|not provided [RCV001497835]likely benign|uncertain significance58353917283539172Human2name
11601209CV305094single nucleotide variantNM_004385.5(VCAN):c.8338C>T (p.Leu2780=)Vitreoretinopathy [RCV000319062]|Wagner syndrome [RCV000280328]|not provided [RCV001521195]benign|likely benign58354134183541341Human2name
11599683CV305109single nucleotide variantNM_004385.5(VCAN):c.9291G>A (p.Pro3097=)Vitreoretinopathy [RCV000360031]|Wagner syndrome [RCV000267759]|not provided [RCV000901937]benign|likely benign58354556283545562Human2name
405226692CV3069363single nucleotide variantNM_004385.5(VCAN):c.823G>T (p.Ala275Ser)not provided [RCV003734175]uncertain significance58351217783512177Humanname
405144890CV3126195single nucleotide variantNM_004385.5(VCAN):c.4716A>G (p.Glu1572=)not provided [RCV003817111]likely benign58353771983537719Humanname
404979714CV3127860single nucleotide variantNM_004385.5(VCAN):c.8124A>G (p.Gly2708=)not provided [RCV003825892]likely benign58354112783541127Humanname
405133672CV3130202single nucleotide variantNM_004385.5(VCAN):c.854C>A (p.Ala285Glu)not provided [RCV003838625]uncertain significance58351220883512208Humanname
405136312CV3130616single nucleotide variantNM_004385.5(VCAN):c.3225C>T (p.Val1075=)not provided [RCV003838849]likely benign58352153183521531Humanname
405111810CV3137350single nucleotide variantNM_004385.5(VCAN):c.632G>A (p.Arg211Gln)not provided [RCV003836313]uncertain significance58349381583493815Humanname
405197237CV3138801single nucleotide variantNM_004385.5(VCAN):c.982T>G (p.Phe328Val)not provided [RCV003821617]uncertain significance58351233683512336Humanname
405014908CV3138953single nucleotide variantNM_004385.5(VCAN):c.7746T>C (p.His2582=)not provided [RCV003829290]likely benign58354074983540749Humanname
405064730CV3139733single nucleotide variantNM_004385.5(VCAN):c.790G>A (p.Glu264Lys)not provided [RCV003833080]uncertain significance58351214483512144Humanname
405147330CV3141863single nucleotide variantNM_004385.5(VCAN):c.5391T>C (p.Asn1797=)not provided [RCV003839785]likely benign58353839483538394Humanname
405224592CV3142214single nucleotide variantNM_004385.5(VCAN):c.3531T>C (p.Asp1177=)not provided [RCV003847753]likely benign58352183783521837Humanname
405216525CV3143405single nucleotide variantNM_004385.5(VCAN):c.6315T>C (p.Pro2105=)not provided [RCV003846569]likely benign58353931883539318Humanname
405182366CV3147640single nucleotide variantNM_004385.5(VCAN):c.6975G>A (p.Gly2325=)not provided [RCV003842542]likely benign58353997883539978Humanname
405228895CV3153323single nucleotide variantNM_004385.5(VCAN):c.8958C>T (p.Val2986=)not provided [RCV003848386]likely benign58354196183541961Humanname
405046142CV3154541single nucleotide variantNM_004385.5(VCAN):c.7368C>T (p.Ser2456=)not provided [RCV003849217]likely benign58354037183540371Humanname
405223933CV3155005single nucleotide variantNM_004385.5(VCAN):c.5910A>G (p.Ser1970=)not provided [RCV003847501]likely benign58353891383538913Humanname
405220754CV3157814single nucleotide variantNM_004385.5(VCAN):c.362T>C (p.Leu121Pro)not provided [RCV003863506]uncertain significance58349038983490389Humanname
405247210CV3158718single nucleotide variantNM_004385.5(VCAN):c.883G>A (p.Asp295Asn)not provided [RCV003869060]uncertain significance58351223783512237Humanname
405136279CV3164339single nucleotide variantNM_004385.5(VCAN):c.9921C>A (p.Thr3307=)not provided [RCV003855134]likely benign58358002083580020Humanname
405091497CV3167933single nucleotide variantNM_004385.5(VCAN):c.694T>G (p.Phe232Val)not provided [RCV003852323]uncertain significance58349387783493877Humanname
405227598CV3169510single nucleotide variantNM_004385.5(VCAN):c.8685C>T (p.Asp2895=)not provided [RCV003864534]likely benign58354168883541688Humanname
405265044CV3201473single nucleotide variantNM_004385.5(VCAN):c.9864G>A (p.Thr3288=)VCAN-related disorder [RCV003897231]|not provided [RCV005101577]likely benign58357254483572544Human1name , alternate_id
405295274CV3211189single nucleotide variantNM_004385.5(VCAN):c.3675A>G (p.Pro1225=)VCAN-related disorder [RCV003937173]likely benign58352198183521981Humanname , trait , alternate_id
405806549CV3345477single nucleotide variantNM_004385.5(VCAN):c.905C>G (p.Ala302Gly)Inborn genetic diseases [RCV004480264]uncertain significance58351225983512259Human1name
596939238CV3407730single nucleotide variantNM_004385.5(VCAN):c.703C>T (p.Pro235Ser)Retinal dystrophy [RCV004814190]uncertain significance58349388683493886Human2name
408374295CV3515486single nucleotide variantNM_004385.5(VCAN):c.3210A>G (p.Gly1070=)VCAN-related disorder [RCV004746638]likely benign58352151683521516Humanname , trait , alternate_id
408393716CV3519660single nucleotide variantNM_004385.5(VCAN):c.652T>A (p.Tyr218Asn)not provided [RCV004763956]uncertain significance58349383583493835Humanname
597643066CV3633267single nucleotide variantNM_004385.5(VCAN):c.740A>C (p.His247Pro)Inborn genetic diseases [RCV004972106]uncertain significance58349392383493923Human1name
597908043CV3738974single nucleotide variantNM_004385.5(VCAN):c.5778A>G (p.Thr1926=)not provided [RCV005073209]likely benign58353878183538781Humanname
597887279CV3741917single nucleotide variantNM_004385.5(VCAN):c.8889C>T (p.Ala2963=)not provided [RCV005070637]likely benign58354189283541892Humanname
597864095CV3742165single nucleotide variantNM_004385.5(VCAN):c.499G>T (p.Ala167Ser)not provided [RCV005067781]uncertain significance58349359983493599Humanname
597881190CV3744909single nucleotide variantNM_004385.5(VCAN):c.4608T>C (p.His1536=)not provided [RCV005069934]likely benign58353761183537611Humanname
597891403CV3749377single nucleotide variantNM_004385.5(VCAN):c.7338A>G (p.Ala2446=)not provided [RCV005071161]likely benign58354034183540341Humanname
597971166CV3750643single nucleotide variantNM_004385.5(VCAN):c.4624C>T (p.Leu1542=)not provided [RCV005084387]likely benign58353762783537627Humanname
597943061CV3757795single nucleotide variantNM_004385.5(VCAN):c.7017T>C (p.Thr2339=)not provided [RCV005077793]likely benign58354002083540020Humanname
597951263CV3759720single nucleotide variantNM_004385.5(VCAN):c.8007C>T (p.His2669=)not provided [RCV005079320]likely benign58354101083541010Humanname
597834054CV3760511single nucleotide variantNM_004385.5(VCAN):c.916C>T (p.His306Tyr)not provided [RCV005085254]uncertain significance58351227083512270Humanname
597883203CV3764322single nucleotide variantNM_004385.5(VCAN):c.4458C>T (p.Tyr1486=)not provided [RCV005109540]likely benign58353746183537461Humanname
597952867CV3776296single nucleotide variantNM_004385.5(VCAN):c.8316A>G (p.Ala2772=)not provided [RCV005121424]likely benign58354131983541319Humanname
597944812CV3779488single nucleotide variantNM_004385.5(VCAN):c.5061C>T (p.Thr1687=)not provided [RCV005134452]likely benign58353806483538064Humanname
597954913CV3786779single nucleotide variantNM_004385.5(VCAN):c.592G>A (p.Ala198Thr)not provided [RCV005121871]uncertain significance58349369283493692Humanname
597889625CV3788121single nucleotide variantNM_004385.5(VCAN):c.5394A>C (p.Thr1798=)not provided [RCV005125479]likely benign58353839783538397Humanname
597940135CV3788937single nucleotide variantNM_004385.5(VCAN):c.6894T>C (p.Ile2298=)not provided [RCV005133400]likely benign58353989783539897Humanname
597946909CV3790491single nucleotide variantNM_004385.5(VCAN):c.3885T>C (p.Thr1295=)not provided [RCV005134899]likely benign58352219183522191Humanname
597933760CV3793453single nucleotide variantNM_004385.5(VCAN):c.6207G>T (p.Thr2069=)not provided [RCV005132109]likely benign58353921083539210Humanname
597965654CV3793807single nucleotide variantNM_004385.5(VCAN):c.7716G>T (p.Ser2572=)not provided [RCV005140189]likely benign58354071983540719Humanname
597899933CV3796493single nucleotide variantNM_004385.5(VCAN):c.9093G>A (p.Gln3031=)not provided [RCV005152576]likely benign58354209683542096Humanname
597973584CV3801464single nucleotide variantNM_004385.5(VCAN):c.9774C>T (p.Phe3258=)not provided [RCV005143453]likely benign58357245483572454Humanname
597871927CV3805222single nucleotide variantNM_004385.5(VCAN):c.5730G>A (p.Glu1910=)not provided [RCV005148500]likely benign58353873383538733Humanname
597945609CV3807374single nucleotide variantNM_004385.5(VCAN):c.6132A>T (p.Gly2044=)not provided [RCV005160009]likely benign58353913583539135Humanname
597939090CV3808383single nucleotide variantNM_004385.5(VCAN):c.6384C>T (p.Ser2128=)not provided [RCV005158571]likely benign58353938783539387Humanname
597962715CV3809246single nucleotide variantNM_004385.5(VCAN):c.4557A>G (p.Ala1519=)not provided [RCV005164148]likely benign58353756083537560Humanname
597881548CV3810616single nucleotide variantNM_004385.5(VCAN):c.3528G>A (p.Glu1176=)not provided [RCV005149885]likely benign58352183483521834Humanname
597917257CV3811137single nucleotide variantNM_004385.5(VCAN):c.7899G>A (p.Glu2633=)not provided [RCV005155172]likely benign58354090283540902Humanname
597917279CV3811141single nucleotide variantNM_004385.5(VCAN):c.4491G>A (p.Glu1497=)not provided [RCV005155176]likely benign58353749483537494Humanname
597961729CV3812221single nucleotide variantNM_004385.5(VCAN):c.4896G>C (p.Gly1632=)not provided [RCV005163874]likely benign58353789983537899Humanname
597953816CV3815940single nucleotide variantNM_004385.5(VCAN):c.6831A>G (p.Glu2277=)not provided [RCV005161692]likely benign58353983483539834Humanname
597927698CV3816004single nucleotide variantNM_004385.5(VCAN):c.8298T>A (p.Ser2766=)not provided [RCV005156585]likely benign58354130183541301Humanname
597942641CV3816293single nucleotide variantNM_004385.5(VCAN):c.318T>A (p.His106Gln)not provided [RCV005159354]uncertain significance58349034583490345Humanname
597914003CV3817470single nucleotide variantNM_004385.5(VCAN):c.374C>T (p.Ala125Val)not provided [RCV005154672]uncertain significance58349040183490401Humanname
597861831CV3817682single nucleotide variantNM_004385.5(VCAN):c.3174G>A (p.Glu1058=)not provided [RCV005146868]likely benign58352148083521480Humanname
597842241CV3822048single nucleotide variantNM_004385.5(VCAN):c.4014T>C (p.Ser1338=)not provided [RCV005172362]likely benign58353701783537017Humanname
597856774CV3822165single nucleotide variantNM_004385.5(VCAN):c.8883A>G (p.Thr2961=)not provided [RCV005174463]likely benign58354188683541886Humanname
597892136CV3822858single nucleotide variantNM_004385.5(VCAN):c.6450C>T (p.Leu2150=)not provided [RCV005179934]likely benign58353945383539453Humanname
597966056CV3823676single nucleotide variantNM_004385.5(VCAN):c.941A>G (p.Gln314Arg)not provided [RCV005165096]uncertain significance58351229583512295Humanname
597841567CV3825543single nucleotide variantNM_004385.5(VCAN):c.8766T>C (p.Ala2922=)not provided [RCV005172226]likely benign58354176983541769Humanname
597932239CV3827224single nucleotide variantNM_004385.5(VCAN):c.499G>A (p.Ala167Thr)not provided [RCV005157237]uncertain significance58349359983493599Humanname
597975593CV3828591single nucleotide variantNM_004385.5(VCAN):c.8478A>G (p.Ser2826=)not provided [RCV005169220]likely benign58354148183541481Humanname
597964935CV3830616single nucleotide variantNM_004385.5(VCAN):c.7458A>G (p.Ser2486=)not provided [RCV005164756]likely benign58354046183540461Humanname
597842476CV3831025single nucleotide variantNM_004385.5(VCAN):c.7497C>T (p.Ser2499=)not provided [RCV005172406]likely benign58354050083540500Humanname
597832545CV3831287single nucleotide variantNM_004385.5(VCAN):c.5679A>G (p.Arg1893=)not provided [RCV005170490]likely benign58353868283538682Humanname
597912675CV3834291single nucleotide variantNM_004385.5(VCAN):c.4695T>A (p.Ala1565=)not provided [RCV005183053]likely benign58353769883537698Humanname
597897109CV3854321single nucleotide variantNM_004385.5(VCAN):c.770T>C (p.Val257Ala)not provided [RCV005201428]uncertain significance58351212483512124Humanname
597899063CV3854627single nucleotide variantNM_004385.5(VCAN):c.6249A>G (p.Thr2083=)not provided [RCV005201735]likely benign58353925283539252Humanname
597894750CV3857236single nucleotide variantNM_004385.5(VCAN):c.4743A>T (p.Thr1581=)not provided [RCV005201100]likely benign58353774683537746Humanname
15157286CV699201single nucleotide variantNM_004385.5(VCAN):c.7161A>G (p.Ser2387=)not provided [RCV000946857]likely benign58354016483540164Humanname
15157303CV699204single nucleotide variantNM_004385.5(VCAN):c.9018T>A (p.Ser3006=)not provided [RCV000946860]benign58354202183542021Humanname
15181876CV721579single nucleotide variantNM_004385.5(VCAN):c.7812A>G (p.Glu2604=)not provided [RCV000885864]likely benign58354081583540815Humanname
15163315CV735242single nucleotide variantNM_004385.5(VCAN):c.763C>T (p.Leu255Phe)not provided [RCV000903746]benign58351211783512117Humanname
15150306CV735248single nucleotide variantNM_004385.5(VCAN):c.6126C>T (p.Asp2042=)not provided [RCV000901122]benign58353912983539129Humanname
15133493CV735250single nucleotide variantNM_004385.5(VCAN):c.7881C>T (p.Val2627=)not provided [RCV000898141]likely benign58354088483540884Humanname
15133298CV735251single nucleotide variantNM_004385.5(VCAN):c.8889C>G (p.Ala2963=)not provided [RCV000898109]likely benign58354189283541892Humanname
15123248CV735253single nucleotide variantNM_004385.5(VCAN):c.9960G>C (p.Leu3320=)VCAN-related disorder [RCV003922878]|not provided [RCV000896379]benign58358005983580059Human1name , alternate_id
15115413CV749638single nucleotide variantNM_004385.5(VCAN):c.3708C>T (p.Ile1236=)not provided [RCV000917450]likely benign58352201483522014Humanname
15156226CV749639single nucleotide variantNM_004385.5(VCAN):c.6796C>T (p.Leu2266=)not provided [RCV000924627]likely benign58353979983539799Humanname
15146857CV749640single nucleotide variantNM_004385.5(VCAN):c.7176C>T (p.Asn2392=)not provided [RCV000922791]benign58354017983540179Humanname
15109663CV749642single nucleotide variantNM_004385.5(VCAN):c.8463T>G (p.Ser2821=)VCAN-related disorder [RCV003923234]|not provided [RCV000916381]likely benign58354146683541466Human1name , alternate_id
15180653CV765362single nucleotide variantNM_004385.5(VCAN):c.394G>A (p.Val132Ile)not provided [RCV000929939]benign58349042183490421Humanname
8626052CV81196single nucleotide variantNM_004385.4(VCAN):c.3294T>C (p.Ile1098=)Malignant melanoma [RCV000061274]not provided58352160083521600Humanname
26917684CV831185single nucleotide variantNM_004385.5(VCAN):c.322G>A (p.Glu108Lys)not provided [RCV001042169]uncertain significance58349034983490349Humanname
26915244CV831186single nucleotide variantNM_004385.5(VCAN):c.328G>T (p.Val110Leu)Inborn genetic diseases [RCV005286274]|not provided [RCV001038695]uncertain significance58349035583490355Human1name
26892052CV831187single nucleotide variantNM_004385.5(VCAN):c.385C>T (p.Arg129Cys)Inborn genetic diseases [RCV004031950]|not provided [RCV001061234]uncertain significance58349041283490412Human1name
26887624CV831188single nucleotide variantNM_004385.5(VCAN):c.853G>A (p.Ala285Thr)not provided [RCV001056598]uncertain significance58351220783512207Humanname
26888134CV831228single nucleotide variantNM_004385.5(VCAN):c.8124A>T (p.Gly2708=)not provided [RCV001057116]likely benign|uncertain significance58354112783541127Humanname
26910020CV856386deletionNM_004385.5(VCAN):c.1720del (p.Asp574fs)Retinal dystrophy [RCV001074292]likely pathogenic58352002683520026Human2name
8631727CV86933single nucleotide variantNM_004385.4(VCAN):c.607G>A (p.Asp203Asn)Malignant melanoma [RCV000067024]not provided58349370783493707Humanname
28897356CV894776single nucleotide variantNM_004385.5(VCAN):c.329T>G (p.Val110Gly)Vitreoretinopathy [RCV001155004]|Wagner syndrome [RCV001155005]|not provided [RCV001493100]benign|likely benign58349035683490356Human2name
28902386CV894797single nucleotide variantNM_004385.5(VCAN):c.4545C>T (p.Ala1515=)Vitreoretinopathy [RCV001157100]|Wagner syndrome [RCV001157099]uncertain significance58353754883537548Human2name
28888078CV894799single nucleotide variantNM_004385.5(VCAN):c.4761T>A (p.Val1587=)Vitreoretinopathy [RCV001151653]|Wagner syndrome [RCV001151652]uncertain significance58353776483537764Human2name
28898950CV894803single nucleotide variantNM_004385.5(VCAN):c.6138A>G (p.Gly2046=)Vitreoretinopathy [RCV001155639]|Wagner syndrome [RCV001155638]uncertain significance58353914183539141Human2name
28899150CV894811single nucleotide variantNM_004385.5(VCAN):c.7371C>T (p.Thr2457=)Vitreoretinopathy [RCV001157411]|Wagner syndrome [RCV001155714]|not provided [RCV001510908]benign58354037483540374Human2name
28903114CV894812single nucleotide variantNM_004385.5(VCAN):c.7434T>G (p.Thr2478=)Vitreoretinopathy [RCV001157412]|Wagner syndrome [RCV001157413]uncertain significance58354043783540437Human2name
28903347CV894815single nucleotide variantNM_004385.5(VCAN):c.8052C>T (p.Asp2684=)Vitreoretinopathy [RCV001157519]|Wagner syndrome [RCV001157518]|not provided [RCV002070939]likely benign|uncertain significance58354105583541055Human2name
28899680CV894819single nucleotide variantNM_004385.5(VCAN):c.8634A>G (p.Pro2878=)Vitreoretinopathy [RCV001155926]|Wagner syndrome [RCV001155925]|not provided [RCV001498382]likely benign58354163783541637Human2name
28903617CV894820single nucleotide variantNM_004385.5(VCAN):c.9009G>A (p.Thr3003=)Vitreoretinopathy [RCV001157630]|Wagner syndrome [RCV001157629]|not provided [RCV001469474]benign|likely benign58354201283542012Human2name
38478968CV933046single nucleotide variantNM_004385.5(VCAN):c.8223G>A (p.Leu2741=)not provided [RCV001205782]likely benign|uncertain significance58354122683541226Humanname
38495289CV944726single nucleotide variantNM_004385.5(VCAN):c.386G>T (p.Arg129Leu)Inborn genetic diseases [RCV005286354]|not provided [RCV001225619]uncertain significance58349041383490413Human1name
38473045CV944727single nucleotide variantNM_004385.5(VCAN):c.772C>T (p.Pro258Ser)not provided [RCV001231747]uncertain significance58351212683512126Humanname
38476191CV944748single nucleotide variantNM_004385.5(VCAN):c.6390A>G (p.Gln2130=)not provided [RCV001232966]likely benign|uncertain significance58353939383539393Humanname
38495796CV954241single nucleotide variantNM_004385.5(VCAN):c.523G>A (p.Val175Ile)not provided [RCV001242163]uncertain significance58349362383493623Humanname
38467626CV954242single nucleotide variantNM_004385.5(VCAN):c.904G>A (p.Ala302Thr)Inborn genetic diseases [RCV004679043]|not provided [RCV001247883]uncertain significance58351225883512258Human1name
126757828CV991112single nucleotide variantNM_004385.5(VCAN):c.4332G>A (p.Ser1444=)not provided [RCV001308536]likely benign|uncertain significance58353733583537335Humanname
156414857CV1955103single nucleotide variantNM_004385.5(VCAN):c.2134T>A (p.Phe712Ile)not provided [RCV002588844]uncertain significance58352044083520440Humanname
401730659CV2686630single nucleotide variantNM_004385.5(VCAN):c.2413T>C (p.Trp805Arg)Inborn genetic diseases [RCV003289624]uncertain significance58352071983520719Human1name
401746201CV2694811single nucleotide variantNM_004385.5(VCAN):c.2432C>A (p.Thr811Lys)Inborn genetic diseases [RCV003241950]|VCAN-related disorder [RCV003395738]uncertain significance58352073883520738Human2name , alternate_id
401770239CV2711008single nucleotide variantNM_004385.5(VCAN):c.1976C>A (p.Ser659Tyr)Inborn genetic diseases [RCV003260992]uncertain significance58352028283520282Human1name
401936518CV2798637single nucleotide variantNM_004385.5(VCAN):c.1486G>A (p.Gly496Ser)VCAN-related disorder [RCV003414531]uncertain significance58351979283519792Humanname , trait , alternate_id
401901612CV2802239single nucleotide variantNM_004385.5(VCAN):c.1874G>C (p.Arg625Thr)VCAN-related disorder [RCV003393042]uncertain significance58352018083520180Humanname , trait , alternate_id
401917750CV2827874single nucleotide variantNM_004385.5(VCAN):c.2089G>A (p.Asp697Asn)not provided [RCV003429696]uncertain significance58352039583520395Humanname
405171660CV2864339single nucleotide variantNM_004385.5(VCAN):c.1605G>T (p.Met535Ile)not provided [RCV003542214]uncertain significance58351991183519911Humanname
405216741CV2872581single nucleotide variantNM_004385.5(VCAN):c.1119G>A (p.Met373Ile)not provided [RCV003553320]uncertain significance58351942583519425Humanname
405095621CV2874921single nucleotide variantNM_004385.5(VCAN):c.2510A>T (p.Asn837Ile)not provided [RCV003550239]uncertain significance58352081683520816Humanname
405199557CV2877033single nucleotide variantNM_004385.5(VCAN):c.1976C>T (p.Ser659Phe)not provided [RCV003551250]uncertain significance58352028283520282Humanname
402496023CV2883736single nucleotide variantNM_004385.5(VCAN):c.2452A>C (p.Thr818Pro)not provided [RCV003573431]uncertain significance58352075883520758Humanname
405130347CV2895117single nucleotide variantNM_004385.5(VCAN):c.1346A>G (p.Lys449Arg)not provided [RCV003559947]uncertain significance58351965283519652Humanname
405112592CV2900507single nucleotide variantNM_004385.5(VCAN):c.1175C>T (p.Pro392Leu)not provided [RCV003558087]uncertain significance58351948183519481Humanname
402475937CV2916846single nucleotide variantNM_004385.5(VCAN):c.1280C>T (p.Thr427Ile)not provided [RCV003571423]uncertain significance58351958683519586Humanname
405039093CV2929823single nucleotide variantNM_004385.5(VCAN):c.1928C>T (p.Thr643Ile)not provided [RCV003578966]uncertain significance58352023483520234Humanname
402517987CV2936571single nucleotide variantNM_004385.5(VCAN):c.1778A>C (p.His593Pro)not provided [RCV003663094]uncertain significance58352008483520084Humanname
405064273CV2939815single nucleotide variantNM_004385.5(VCAN):c.1373A>G (p.Glu458Gly)not provided [RCV003658970]uncertain significance58351967983519679Humanname
405139808CV2954630single nucleotide variantNM_004385.5(VCAN):c.2578A>G (p.Ser860Gly)not provided [RCV003673058]uncertain significance58352088483520884Humanname
405218466CV2968733deletionNM_004385.5(VCAN):c.9718del (p.Thr3240fs)not provided [RCV003680337]uncertain significance58355502183555021Humanname
405233801CV2975525single nucleotide variantNM_004385.5(VCAN):c.1169T>C (p.Val390Ala)not provided [RCV003682696]uncertain significance58351947583519475Humanname
405212631CV2984138single nucleotide variantNM_004385.5(VCAN):c.2737G>A (p.Glu913Lys)not provided [RCV003708913]uncertain significance58352104383521043Humanname
405012871CV2990649single nucleotide variantNM_004385.5(VCAN):c.2794G>A (p.Asp932Asn)not provided [RCV003694113]uncertain significance58352110083521100Humanname
404999691CV3005215single nucleotide variantNM_004385.5(VCAN):c.1372G>C (p.Glu458Gln)not provided [RCV003693052]uncertain significance58351967883519678Humanname
405126314CV3017344single nucleotide variantNM_004385.5(VCAN):c.2429C>A (p.Thr810Lys)not provided [RCV003701271]uncertain significance58352073583520735Humanname
405148597CV3024254single nucleotide variantNM_004385.5(VCAN):c.1855A>G (p.Met619Val)not provided [RCV003703124]uncertain significance58352016183520161Humanname
405047808CV3028945single nucleotide variantNM_004385.5(VCAN):c.2716G>A (p.Val906Ile)not provided [RCV003696784]uncertain significance58352102283521022Humanname
405184738CV3040157single nucleotide variantNM_004385.5(VCAN):c.2198C>T (p.Pro733Leu)not provided [RCV003705825]uncertain significance58352050483520504Humanname
405164473CV3059440single nucleotide variantNM_004385.5(VCAN):c.1675G>A (p.Asp559Asn)not provided [RCV003727332]uncertain significance58351998183519981Humanname
405240431CV3060792single nucleotide variantNM_004385.5(VCAN):c.2404A>G (p.Lys802Glu)not provided [RCV003737149]uncertain significance58352071083520710Humanname
405044398CV3074341single nucleotide variantNM_004385.5(VCAN):c.1949G>A (p.Arg650His)Inborn genetic diseases [RCV004374326]|not provided [RCV003740155]likely benign|uncertain significance58352025583520255Human1name
405166684CV3125697single nucleotide variantNM_004385.5(VCAN):c.1615G>C (p.Val539Leu)not provided [RCV003818780]uncertain significance58351992183519921Humanname
402522363CV3126995single nucleotide variantNM_004385.5(VCAN):c.2312C>T (p.Thr771Ile)not provided [RCV003824913]uncertain significance58352061883520618Humanname
405116404CV3134305single nucleotide variantNM_004385.5(VCAN):c.1771C>T (p.His591Tyr)not provided [RCV003836907]uncertain significance58352007783520077Humanname
405143798CV3141373single nucleotide variantNM_004385.5(VCAN):c.1448C>T (p.Thr483Ile)not provided [RCV003839489]uncertain significance58351975483519754Humanname
405206973CV3149321single nucleotide variantNM_004385.5(VCAN):c.2576A>G (p.Asp859Gly)not provided [RCV003845231]uncertain significance58352088283520882Humanname
405190492CV3149658single nucleotide variantNM_004385.5(VCAN):c.1371A>C (p.Glu457Asp)not provided [RCV003843384]uncertain significance58351967783519677Humanname
405173556CV3150475single nucleotide variantNM_004385.5(VCAN):c.2392G>A (p.Ala798Thr)not provided [RCV003841749]uncertain significance58352069883520698Humanname
405203083CV3165158single nucleotide variantNM_004385.5(VCAN):c.2324G>T (p.Gly775Val)not provided [RCV003861019]uncertain significance58352063083520630Humanname
405237735CV3166943single nucleotide variantNM_004385.5(VCAN):c.1307T>C (p.Met436Thr)not provided [RCV003854198]uncertain significance58351961383519613Humanname
402472067CV3171695single nucleotide variantNM_004385.5(VCAN):c.2699C>G (p.Ser900Cys)Inborn genetic diseases [RCV004676320]|not provided [RCV003874479]uncertain significance58352100583521005Human1name
402472497CV3171800single nucleotide variantNM_004385.5(VCAN):c.1978G>C (p.Gly660Arg)Inborn genetic diseases [RCV004676321]|not provided [RCV003874584]uncertain significance58352028483520284Human1name
405212094CV3173561single nucleotide variantNM_004385.5(VCAN):c.1487G>A (p.Gly496Asp)not provided [RCV003862310]uncertain significance58351979383519793Humanname
405228209CV3180332single nucleotide variantNM_004385.5(VCAN):c.1654T>G (p.Leu552Val)not provided [RCV003864752]uncertain significance58351996083519960Humanname
405806516CV3345462single nucleotide variantNM_004385.5(VCAN):c.1704G>T (p.Glu568Asp)Inborn genetic diseases [RCV004480249]uncertain significance58352001083520010Human1name
405806908CV3345464single nucleotide variantNM_004385.5(VCAN):c.2891C>T (p.Thr964Ile)Inborn genetic diseases [RCV004480251]uncertain significance58352119783521197Human1name
405806523CV3345465single nucleotide variantNM_004385.5(VCAN):c.2972C>T (p.Pro991Leu)Inborn genetic diseases [RCV004480252]uncertain significance58352127883521278Human1name
407427350CV3410620single nucleotide variantNM_004385.5(VCAN):c.1342G>C (p.Gly448Arg)not specified [RCV004586267]uncertain significance58351964883519648Humanname
407464822CV3493384single nucleotide variantNM_004385.5(VCAN):c.2705C>T (p.Thr902Ile)Inborn genetic diseases [RCV004688607]uncertain significance58352101183521011Human1name
407529480CV3493386single nucleotide variantNM_004385.5(VCAN):c.1171A>G (p.Ile391Val)Inborn genetic diseases [RCV004680928]|not provided [RCV005059750]uncertain significance58351947783519477Human1name
597643045CV3633263single nucleotide variantNM_004385.5(VCAN):c.1151T>C (p.Leu384Ser)Inborn genetic diseases [RCV004972102]uncertain significance58351945783519457Human1name
597643061CV3633266single nucleotide variantNM_004385.5(VCAN):c.2591A>T (p.Gln864Leu)Inborn genetic diseases [RCV004972105]uncertain significance58352089783520897Human1name
597643091CV3633274single nucleotide variantNM_004385.5(VCAN):c.1529C>T (p.Ser510Phe)Inborn genetic diseases [RCV004972112]uncertain significance58351983583519835Human1name
597643095CV3633275single nucleotide variantNM_004385.5(VCAN):c.2933T>C (p.Ile978Thr)Inborn genetic diseases [RCV004972113]uncertain significance58352123983521239Human1name
597643105CV3633277single nucleotide variantNM_004385.5(VCAN):c.2108T>C (p.Ile703Thr)Inborn genetic diseases [RCV004972115]uncertain significance58352041483520414Human1name
597830281CV3742980single nucleotide variantNM_004385.5(VCAN):c.1936C>T (p.Pro646Ser)not provided [RCV005061988]uncertain significance58352024283520242Humanname
597936191CV3764797deletionNM_004385.5(VCAN):c.8116del (p.Ile2706fs)not provided [RCV005117496]pathogenic58354111983541119Humanname
597921700CV3765247single nucleotide variantNM_004385.5(VCAN):c.2911C>T (p.His971Tyr)not provided [RCV005115264]uncertain significance58352121783521217Humanname
597907880CV3781575single nucleotide variantNM_004385.5(VCAN):c.2671A>T (p.Ile891Phe)not provided [RCV005128263]uncertain significance58352097783520977Humanname
597956395CV3792299single nucleotide variantNM_004385.5(VCAN):c.2627A>C (p.His876Pro)Inborn genetic diseases [RCV005291175]|not provided [RCV005137186]uncertain significance58352093383520933Human1name
597948928CV3801281single nucleotide variantNM_004385.5(VCAN):c.1570A>G (p.Arg524Gly)not provided [RCV005135461]uncertain significance58351987683519876Humanname
597949321CV3801405single nucleotide variantNM_004385.5(VCAN):c.1766C>T (p.Thr589Ile)not provided [RCV005135585]uncertain significance58352007283520072Humanname
597946558CV3807530single nucleotide variantNM_004385.5(VCAN):c.1663G>A (p.Glu555Lys)not provided [RCV005160165]uncertain significance58351996983519969Humanname
597963195CV3819554single nucleotide variantNM_004385.5(VCAN):c.1147C>T (p.Pro383Ser)not provided [RCV005164270]uncertain significance58351945383519453Humanname
597855320CV3821788single nucleotide variantNM_004385.5(VCAN):c.1652C>T (p.Thr551Ile)not provided [RCV005174266]uncertain significance58351995883519958Humanname
597839252CV3824922single nucleotide variantNM_004385.5(VCAN):c.1424A>T (p.Asp475Val)not provided [RCV005171786]uncertain significance58351973083519730Humanname
597964665CV3830498single nucleotide variantNM_004385.5(VCAN):c.1704G>C (p.Glu568Asp)not provided [RCV005164638]uncertain significance58352001083520010Humanname
597898968CV3854614single nucleotide variantNM_004385.5(VCAN):c.2024C>G (p.Ser675Cys)not provided [RCV005201722]uncertain significance58352033083520330Humanname
598127220CV3888076single nucleotide variantNM_004385.5(VCAN):c.1994T>C (p.Val665Ala)not provided [RCV005242762]uncertain significance58352030083520300Humanname
598240257CV3929472single nucleotide variantNM_004385.5(VCAN):c.1198A>G (p.Asn400Asp)Inborn genetic diseases [RCV005296739]uncertain significance58351950483519504Human1name
598205657CV3929473single nucleotide variantNM_004385.5(VCAN):c.2069T>G (p.Leu690Arg)Inborn genetic diseases [RCV005290884]uncertain significance58352037583520375Human1name
598240266CV3929476single nucleotide variantNM_004385.5(VCAN):c.1360G>C (p.Glu454Gln)Inborn genetic diseases [RCV005296741]uncertain significance58351966683519666Human1name
598240276CV3929478single nucleotide variantNM_004385.5(VCAN):c.1775C>G (p.Thr592Ser)Inborn genetic diseases [RCV005296743]uncertain significance58352008183520081Human1name
616939101CV4015430single nucleotide variantNM_004385.5(VCAN):c.1024G>T (p.Asp342Tyr)not provided [RCV005412942]uncertain significance58351237883512378Humanname
26888044CV831189single nucleotide variantNM_004385.5(VCAN):c.1063G>C (p.Asp355His)not provided [RCV001057058]uncertain significance58351936983519369Humanname
26890878CV831190single nucleotide variantNM_004385.5(VCAN):c.1078G>A (p.Ala360Thr)Inborn genetic diseases [RCV005298692]|not provided [RCV001059867]uncertain significance58351938483519384Human1name
26902443CV831191single nucleotide variantNM_004385.5(VCAN):c.1186C>T (p.Pro396Ser)not provided [RCV001069346]uncertain significance58351949283519492Humanname
26904703CV831192single nucleotide variantNM_004385.5(VCAN):c.1575G>T (p.Met525Ile)Inborn genetic diseases [RCV005286308]|not provided [RCV001071014]uncertain significance58351988183519881Human1name
26890376CV831193single nucleotide variantNM_004385.5(VCAN):c.1601A>G (p.Lys534Arg)not provided [RCV001059232]uncertain significance58351990783519907Humanname
26922083CV831194single nucleotide variantNM_004385.5(VCAN):c.1747T>C (p.Ser583Pro)not provided [RCV001051426]uncertain significance58352005383520053Humanname
26891640CV831195single nucleotide variantNM_004385.5(VCAN):c.1814C>T (p.Thr605Ile)not provided [RCV001060752]uncertain significance58352012083520120Humanname
26888123CV831196single nucleotide variantNM_004385.5(VCAN):c.2050A>G (p.Arg684Gly)VCAN-related disorder [RCV004746221]|not provided [RCV001057114]uncertain significance58352035683520356Human1name , alternate_id
26894893CV831197single nucleotide variantNM_004385.5(VCAN):c.2448G>T (p.Glu816Asp)not provided [RCV001063735]uncertain significance58352075483520754Humanname
26894267CV831198single nucleotide variantNM_004385.5(VCAN):c.2683T>C (p.Ser895Pro)Inborn genetic diseases [RCV004030492]|VCAN-related disorder [RCV003396705]|not provided [RCV001063346]uncertain significance58352098983520989Human2name , alternate_id
26917346CV831199single nucleotide variantNM_004385.5(VCAN):c.2816C>T (p.Thr939Ile)Inborn genetic diseases [RCV004686629]|not provided [RCV001041744]uncertain significance58352112283521122Human1name
26909753CV856387single nucleotide variantNM_004385.5(VCAN):c.1960G>C (p.Glu654Gln)Retinal dystrophy [RCV001073931]|not provided [RCV005093405]uncertain significance58352026683520266Human2name
28897635CV894780single nucleotide variantNM_004385.5(VCAN):c.1009C>G (p.Pro337Ala)Vitreoretinopathy [RCV001155115]|Wagner syndrome [RCV001155114]|not provided [RCV002032429]benign|uncertain significance58351236383512363Human2name
28897639CV894781single nucleotide variantNM_004385.5(VCAN):c.1112C>T (p.Pro371Leu)Vitreoretinopathy [RCV001155116]|Wagner syndrome [RCV001156777]uncertain significance58351941883519418Human2name
28901616CV894782single nucleotide variantNM_004385.5(VCAN):c.1127A>C (p.Asp376Ala)Vitreoretinopathy [RCV001156779]|Wagner syndrome [RCV001156778]|not provided [RCV001882492]likely benign|uncertain significance58351943383519433Human2name
28901620CV894783single nucleotide variantNM_004385.5(VCAN):c.1240G>A (p.Ala414Thr)Vitreoretinopathy [RCV001156780]|Wagner syndrome [RCV001156781]|not provided [RCV002032446]uncertain significance58351954683519546Human2name
28887033CV894784single nucleotide variantNM_004385.5(VCAN):c.1369G>A (p.Glu457Lys)Inborn genetic diseases [RCV002558312]|Vitreoretinopathy [RCV001151330]|Wagner syndrome [RCV001151331]|not provided [RCV001202725]benign|conflicting interpretations of pathogenicity|uncertain significance58351967583519675Human3name
28887041CV894785single nucleotide variantNM_004385.5(VCAN):c.1457C>T (p.Ser486Leu)Vitreoretinopathy [RCV001151333]|Wagner syndrome [RCV001151332]|not provided [RCV001439109]benign|likely benign58351976383519763Human2name
28887428CV894788single nucleotide variantNM_004385.5(VCAN):c.2668G>T (p.Gly890Cys)Inborn genetic diseases [RCV005298710]|VCAN-related disorder [RCV003963095]|Vitreoretinopathy [RCV001156877]|Wagner syndrome [RCV001151449]|not provided [RCV001517132]benign|likely benign|uncertain significance58352097483520974Human3name , alternate_id
28887433CV894789single nucleotide variantNM_004385.5(VCAN):c.2741G>A (p.Gly914Asp)Vitreoretinopathy [RCV001151451]|Wagner syndrome [RCV001151450]|not provided [RCV001858991]uncertain significance58352104783521047Human2name
38474750CV924176single nucleotide variantNM_004385.5(VCAN):c.2131C>T (p.Pro711Ser)Inborn genetic diseases [RCV004033946]|not provided [RCV001214875]likely benign|uncertain significance58352043783520437Human1name
38475102CV924177single nucleotide variantNM_004385.5(VCAN):c.2879C>T (p.Thr960Ile)Inborn genetic diseases [RCV002561858]|not provided [RCV001215026]uncertain significance58352118583521185Human1name
38464146CV933029single nucleotide variantNM_004385.5(VCAN):c.1129A>G (p.Arg377Gly)not provided [RCV001212445]uncertain significance58351943583519435Humanname
38477723CV933030single nucleotide variantNM_004385.5(VCAN):c.1184T>C (p.Phe395Ser)not provided [RCV001205213]uncertain significance58351949083519490Humanname
38472251CV933032single nucleotide variantNM_004385.5(VCAN):c.1478T>C (p.Ile493Thr)not provided [RCV001214015]uncertain significance58351978483519784Humanname
38487146CV933033single nucleotide variantNM_004385.5(VCAN):c.1951A>C (p.Thr651Pro)not provided [RCV001209192]uncertain significance58352025783520257Humanname
38490162CV933034single nucleotide variantNM_004385.5(VCAN):c.2303A>T (p.Glu768Val)not provided [RCV001210527]uncertain significance58352060983520609Humanname
38471706CV944728single nucleotide variantNM_004385.5(VCAN):c.1526C>G (p.Pro509Arg)Inborn genetic diseases [RCV002563762]|not provided [RCV001231288]uncertain significance58351983283519832Human1name
38489172CV944729single nucleotide variantNM_004385.5(VCAN):c.1615G>T (p.Val539Phe)not provided [RCV001238303]uncertain significance58351992183519921Humanname
38473784CV944732single nucleotide variantNM_004385.5(VCAN):c.2395A>G (p.Thr799Ala)not provided [RCV001231928]uncertain significance58352070183520701Humanname
38487635CV944733single nucleotide variantNM_004385.5(VCAN):c.2417A>T (p.Asp806Val)not provided [RCV001237677]uncertain significance58352072383520723Humanname
38457313CV954243single nucleotide variantNM_004385.5(VCAN):c.1930C>T (p.Pro644Ser)Wagner syndrome [RCV005036529]|not provided [RCV001246030]uncertain significance58352023683520236Human1name
38493974CV954244single nucleotide variantNM_004385.5(VCAN):c.2104G>A (p.Glu702Lys)not provided [RCV001241030]uncertain significance58352041083520410Humanname
38497040CV954245single nucleotide variantNM_004385.5(VCAN):c.2333A>T (p.Lys778Ile)Inborn genetic diseases [RCV004679038]|not provided [RCV001242937]uncertain significance58352063983520639Human1name
38495745CV954246single nucleotide variantNM_004385.5(VCAN):c.2614G>A (p.Asp872Asn)not provided [RCV001242130]uncertain significance58352092083520920Humanname
126764839CV1026797single nucleotide variantNM_004385.5(VCAN):c.4901C>A (p.Ser1634Tyr)Inborn genetic diseases [RCV003294343]|VCAN-related disorder [RCV003416236]|not provided [RCV001341805]uncertain significance58353790483537904Human2alternate_id
126744383CV1026810single nucleotide variantNM_004385.5(VCAN):c.7283C>T (p.Pro2428Leu)VCAN-related disorder [RCV003399145]|not provided [RCV001351275]uncertain significance58354028683540286Human1alternate_id
126727894CV1026819single nucleotide variantNM_004385.5(VCAN):c.9863C>T (p.Thr3288Met)VCAN-related disorder [RCV003416248]|not provided [RCV001348799]uncertain significance58357254383572543Human1alternate_id
126919158CV1043755single nucleotide variantNM_004385.5(VCAN):c.4376C>T (p.Thr1459Met)Inborn genetic diseases [RCV002548667]|VCAN-related disorder [RCV003399185]|not provided [RCV001373074]uncertain significance58353737983537379Human2alternate_id
126921525CV1043759single nucleotide variantNM_004385.5(VCAN):c.5069A>G (p.Tyr1690Cys)Inborn genetic diseases [RCV004036889]|VCAN-related disorder [RCV003405610]|not provided [RCV001363595]uncertain significance58353807283538072Human2alternate_id
127246081CV1073017single nucleotide variantNM_004385.5(VCAN):c.2909C>T (p.Ser970Phe)Inborn genetic diseases [RCV004037746]|VCAN-related disorder [RCV003920870]|not provided [RCV001394017]likely benign|uncertain significance58352121583521215Human2alternate_id
127277811CV1094616single nucleotide variantNM_004385.5(VCAN):c.4361T>C (p.Phe1454Ser)VCAN-related disorder [RCV004746390]|not provided [RCV001444632]likely benign58353736483537364Human1alternate_id
127264488CV1094628single nucleotide variantNM_004385.5(VCAN):c.6482A>G (p.Lys2161Arg)Inborn genetic diseases [RCV002555151]|VCAN-related disorder [RCV004746381]|not provided [RCV001428870]likely benign|uncertain significance58353948583539485Human2alternate_id
127256461CV1094632single nucleotide variantNM_004385.5(VCAN):c.8012C>A (p.Thr2671Lys)Inborn genetic diseases [RCV004038355]|VCAN-related disorder [RCV003908642]|not provided [RCV001437694]likely benign|uncertain significance58354101583541015Human2alternate_id
127303032CV1137105single nucleotide variantNM_004385.5(VCAN):c.3374G>A (p.Arg1125His)VCAN-related disorder [RCV003908784]|not provided [RCV001499257]likely benign58352168083521680Human1alternate_id
127307803CV1155204single nucleotide variantNM_004385.5(VCAN):c.1243A>G (p.Ile415Val)Inborn genetic diseases [RCV004037943]|VCAN-related disorder [RCV003940935]|not provided [RCV001517263]|not specified [RCV001699565]benign|likely benign58351954983519549Human2alternate_id
127307810CV1155207single nucleotide variantNM_004385.5(VCAN):c.1400C>T (p.Ser467Phe)VCAN-related disorder [RCV003940936]|not provided [RCV001517264]|not specified [RCV001699566]benign58351970683519706Human1alternate_id
127309224CV1155209single nucleotide variantNM_004385.5(VCAN):c.1775C>T (p.Thr592Ile)Inborn genetic diseases [RCV004968199]|VCAN-related disorder [RCV003940942]|not provided [RCV001517807]benign|likely benign|uncertain significance58352008183520081Human2alternate_id
127307821CV1155212single nucleotide variantNM_004385.5(VCAN):c.2666C>T (p.Thr889Ile)Inborn genetic diseases [RCV004037944]|VCAN-related disorder [RCV003940938]|not provided [RCV001517266]|not specified [RCV001701185]benign|likely benign58352097283520972Human2alternate_id
151728051CV1425335single nucleotide variantNM_004385.5(VCAN):c.4877A>C (p.Gln1626Pro)VCAN-related disorder [RCV004746511]|not provided [RCV001945757]uncertain significance58353788083537880Human1alternate_id
151784867CV1435272single nucleotide variantNM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu)VCAN-related disorder [RCV003416584]|not provided [RCV001916217]conflicting interpretations of pathogenicity|uncertain significance58353890583538905Human1alternate_id
151834364CV1446810single nucleotide variantNM_004385.5(VCAN):c.6067G>T (p.Val2023Phe)VCAN-related disorder [RCV003893086]|not provided [RCV002031125]uncertain significance58353907083539070Human1alternate_id
151777429CV1449590single nucleotide variantNM_004385.5(VCAN):c.3545C>T (p.Ser1182Leu)VCAN-related disorder [RCV004746578]|not provided [RCV002009421]uncertain significance58352185183521851Human1alternate_id
151745141CV1473450single nucleotide variantNM_004385.5(VCAN):c.6053T>A (p.Val2018Asp)VCAN-related disorder [RCV003401817]|not provided [RCV001912331]uncertain significance58353905683539056Human1alternate_id
152157019CV1586080single nucleotide variantNM_004385.5(VCAN):c.5442A>T (p.Gln1814His)VCAN-related disorder [RCV003895953]|not provided [RCV002140283]likely benign58353844583538445Human1alternate_id
10053218CV195956single nucleotide variantNM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)VCAN-related disorder [RCV003422077]|Vitreoretinopathy [RCV000361504]|Wagner syndrome [RCV000307929]|not provided [RCV000180247]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance58353977083539770Human2alternate_id
156068023CV1975524single nucleotide variantNM_004385.5(VCAN):c.7230G>T (p.Met2410Ile)Inborn genetic diseases [RCV004965968]|VCAN-related disorder [RCV003395497]|not provided [RCV002591188]uncertain significance58354023383540233Human2alternate_id
156367672CV2021038single nucleotide variantNM_004385.5(VCAN):c.5963G>T (p.Gly1988Val)Inborn genetic diseases [RCV004681535]|VCAN-related disorder [RCV003395504]|not provided [RCV002721292]uncertain significance58353896683538966Human2alternate_id
155991204CV2049612single nucleotide variantNM_004385.5(VCAN):c.9443C>A (p.Thr3148Lys)VCAN-related disorder [RCV004725382]|not provided [RCV002819215]uncertain significance58354803483548034Human1alternate_id
401903015CV2797772single nucleotide variantNM_004385.5(VCAN):c.5620G>A (p.Val1874Met)VCAN-related disorder [RCV003419221]uncertain significance58353862383538623Humantrait , alternate_id
401923982CV2800984single nucleotide variantNM_004385.5(VCAN):c.8194G>A (p.Ala2732Thr)VCAN-related disorder [RCV003404574]uncertain significance58354119783541197Humantrait , alternate_id
401907799CV2801193single nucleotide variantNM_004385.5(VCAN):c.6868G>C (p.Val2290Leu)VCAN-related disorder [RCV003397434]uncertain significance58353987183539871Humantrait , alternate_id
401923880CV2803330single nucleotide variantNM_004385.5(VCAN):c.6037G>A (p.Glu2013Lys)VCAN-related disorder [RCV003404476]uncertain significance58353904083539040Humantrait , alternate_id
11586028CV298238single nucleotide variantNM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)Inborn genetic diseases [RCV004022007]|VCAN-related disorder [RCV003902373]|Vitreoretinopathy [RCV000321482]|Wagner syndrome [RCV000285138]|not provided [RCV001041610]benign|likely benign|uncertain significance58352023783520237Human3alternate_id
11584009CV300553single nucleotide variantNM_004385.5(VCAN):c.3094C>G (p.Gln1032Glu)Inborn genetic diseases [RCV002523536]|VCAN-related disorder [RCV003922561]|Vitreoretinopathy [RCV000270899]|Wagner syndrome [RCV000332965]|not provided [RCV002058537]benign|likely benign|uncertain significance58352140083521400Human3alternate_id
11582453CV300585single nucleotide variantNM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)Inborn genetic diseases [RCV002524458]|VCAN-related disorder [RCV003922563]|Vitreoretinopathy [RCV000319988]|Wagner syndrome [RCV000260086]|not provided [RCV001523227]benign|likely benign58354049283540492Human3alternate_id
11602833CV305070single nucleotide variantNM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)Inborn genetic diseases [RCV002520388]|VCAN-related disorder [RCV004745358]|Vitreoretinopathy [RCV000382069]|Wagner syndrome [RCV000294494]|not provided [RCV001065761]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance58352084883520848Human3alternate_id
11601348CV305072single nucleotide variantNM_004385.5(VCAN):c.3188T>C (p.Leu1063Pro)VCAN-related disorder [RCV003932459]|Vitreoretinopathy [RCV000334422]|Wagner syndrome [RCV000281765]|not provided [RCV001519644]benign|likely benign58352149483521494Human2alternate_id
11599157CV305083single nucleotide variantNM_004385.5(VCAN):c.7715C>T (p.Ser2572Leu)VCAN-related disorder [RCV003922564]|Vitreoretinopathy [RCV000263453]|Wagner syndrome [RCV000298761]|not provided [RCV000974512]benign|likely benign58354071883540718Human2alternate_id
405269529CV3201655single nucleotide variantNM_004385.5(VCAN):c.9164T>G (p.Val3055Gly)VCAN-related disorder [RCV003899563]uncertain significance58354216783542167Humantrait , alternate_id
408378992CV3503988single nucleotide variantNM_004385.5(VCAN):c.8971G>A (p.Val2991Met)VCAN-related disorder [RCV004728215]uncertain significance58354197483541974Humantrait , alternate_id
408371029CV3504675single nucleotide variantNM_004385.5(VCAN):c.8526G>T (p.Glu2842Asp)VCAN-related disorder [RCV004724381]uncertain significance58354152983541529Humantrait , alternate_id
408371158CV3504894single nucleotide variantNM_004385.5(VCAN):c.9778T>A (p.Ser3260Thr)VCAN-related disorder [RCV004724516]uncertain significance58357245883572458Humantrait , alternate_id
408379785CV3505986single nucleotide variantNM_004385.5(VCAN):c.4736C>G (p.Ser1579Cys)VCAN-related disorder [RCV004728660]uncertain significance58353773983537739Humantrait , alternate_id
15169577CV735245single nucleotide variantNM_004385.5(VCAN):c.4381T>A (p.Leu1461Met)Inborn genetic diseases [RCV002537580]|VCAN-related disorder [RCV003968301]|not provided [RCV000905086]likely benign|uncertain significance58353738483537384Human2alternate_id
15169582CV735247single nucleotide variantNM_004385.5(VCAN):c.5410G>A (p.Ala1804Thr)Inborn genetic diseases [RCV002540224]|VCAN-related disorder [RCV003958212]|not provided [RCV000905087]likely benign|uncertain significance58353841383538413Human2alternate_id
15169594CV735252single nucleotide variantNM_004385.5(VCAN):c.8919G>C (p.Gln2973His)VCAN-related disorder [RCV003968302]|not provided [RCV000905089]likely benign58354192283541922Human1alternate_id
15138570CV765364single nucleotide variantNM_004385.5(VCAN):c.2618T>G (p.Ile873Arg)Inborn genetic diseases [RCV002545962]|VCAN-related disorder [RCV003895731]|not provided [RCV000943417]|not specified [RCV001356175]benign|likely benign|uncertain significance58352092483520924Human2alternate_id
26888129CV831203single nucleotide variantNM_004385.5(VCAN):c.3086G>A (p.Gly1029Glu)VCAN-related disorder [RCV004746222]|not provided [RCV001057115]uncertain significance58352139283521392Human1alternate_id
26921905CV831219single nucleotide variantNM_004385.5(VCAN):c.6283G>A (p.Ala2095Thr)Inborn genetic diseases [RCV004031579]|VCAN-related disorder [RCV003433002]|not provided [RCV001050988]uncertain significance58353928683539286Human2alternate_id
28902659CV894801single nucleotide variantNM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe)Inborn genetic diseases [RCV002557342]|VCAN-related disorder [RCV003973111]|Vitreoretinopathy [RCV001157214]|Wagner syndrome [RCV001157213]|not provided [RCV001374147]benign|conflicting interpretations of pathogenicity|uncertain significance58353849283538492Human3alternate_id
28902857CV894806single nucleotide variantNM_004385.5(VCAN):c.6649C>T (p.Pro2217Ser)Inborn genetic diseases [RCV004032828]|VCAN-related disorder [RCV003425958]|Vitreoretinopathy [RCV001157307]|Wagner syndrome [RCV001157306]|not provided [RCV001859025]benign|uncertain significance58353965283539652Human3alternate_id
28889930CV894824single nucleotide variantNM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser)VCAN-related disorder [RCV003906269]|Vitreoretinopathy [RCV001152264]|Wagner syndrome [RCV001152265]|not provided [RCV001217413]benign|likely benign|uncertain significance58357243883572438Human2alternate_id
38461015CV944743single nucleotide variantNM_004385.5(VCAN):c.5656G>A (p.Val1886Ile)Inborn genetic diseases [RCV004963252]|VCAN-related disorder [RCV003945932]|not provided [RCV001229457]uncertain significance58353865983538659Human2alternate_id
38462298CV944757single nucleotide variantNM_004385.5(VCAN):c.8919G>T (p.Gln2973His)VCAN-related disorder [RCV003953591]|not provided [RCV001229696]uncertain significance58354192283541922Human1alternate_id
38500044CV954260single nucleotide variantNM_004385.5(VCAN):c.8052C>G (p.Asp2684Glu)Inborn genetic diseases [RCV003284121]|VCAN-related disorder [RCV004746290]|not provided [RCV001245453]uncertain significance58354105583541055Human2alternate_id
126753663CV991139single nucleotide variantNM_004385.5(VCAN):c.9134C>T (p.Thr3045Ile)Inborn genetic diseases [RCV002545008]|VCAN-related disorder [RCV004746311]|not provided [RCV001307442]uncertain significance58354213783542137Human2alternate_id
151754931CV1340247insertionNM_004385.5(VCAN):c.9265+17_9265+18insGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATCACAACATTGnot provided [RCV001894705]uncertain significance58354227083542271Humanname