| 11600369 | CV304858 | single nucleotide variant | NM_004385.5(VCAN):c.*2C>T | VCAN-related disorder [RCV003897796]|Vitreoretinopathy [RCV000365697]|Wagner syndrome [RCV000273462] | likely benign|uncertain significance | 5 | 83580436 | 83580436 | Human | 2 | name , alternate_id |
| 11648731 | CV298218 | single nucleotide variant | NM_004385.5(VCAN):c.-75A>G | Vitreoretinopathy [RCV000283321]|Wagner syndrome [RCV000347771] | uncertain significance | 5 | 83471955 | 83471955 | Human | 2 | name |
| 11649454 | CV304785 | single nucleotide variant | NM_004385.5(VCAN):c.-89T>C | Vitreoretinopathy [RCV000287267]|Wagner syndrome [RCV000323635] | uncertain significance | 5 | 83471941 | 83471941 | Human | 2 | name |
| 11602844 | CV304859 | single nucleotide variant | NM_004385.5(VCAN):c.*31A>G | Vitreoretinopathy [RCV000348997]|Wagner syndrome [RCV000294178]|not provided [RCV004705398] | benign|likely benign | 5 | 83580465 | 83580465 | Human | 2 | name |
| 11598769 | CV305115 | single nucleotide variant | NM_004385.5(VCAN):c.*18A>G | Vitreoretinopathy [RCV000260127]|Wagner syndrome [RCV000333951] | benign|likely benign | 5 | 83580452 | 83580452 | Human | 2 | name |
| 28891710 | CV894774 | single nucleotide variant | NM_004385.5(VCAN):c.-87A>G | Vitreoretinopathy [RCV001152884]|Wagner syndrome [RCV001152883] | uncertain significance | 5 | 83471943 | 83471943 | Human | 2 | name |
| 28900226 | CV894825 | single nucleotide variant | NM_004385.5(VCAN):c.*89A>G | Vitreoretinopathy [RCV001156163]|Wagner syndrome [RCV001156162] | benign | 5 | 83580523 | 83580523 | Human | 2 | name |
| 28900230 | CV894826 | single nucleotide variant | NM_004385.5(VCAN):c.*93G>A | Vitreoretinopathy [RCV001156165]|Wagner syndrome [RCV001156164] | uncertain significance | 5 | 83580527 | 83580527 | Human | 2 | name |
| 156382169 | CV1978961 | single nucleotide variant | NM_004385.5(VCAN):c.71-6C>T | not provided [RCV002604044] | likely benign | 5 | 83490092 | 83490092 | Human | | name |
| 156131879 | CV2112955 | single nucleotide variant | NM_004385.5(VCAN):c.71-4C>G | not provided [RCV002914584] | likely benign | 5 | 83490094 | 83490094 | Human | | name |
| 11647244 | CV298213 | single nucleotide variant | NM_004385.5(VCAN):c.-135G>A | Vitreoretinopathy [RCV000330676]|Wagner syndrome [RCV000275515] | uncertain significance | 5 | 83471895 | 83471895 | Human | 2 | name |
| 11582813 | CV298214 | single nucleotide variant | NM_004385.5(VCAN):c.-119A>C | Vitreoretinopathy [RCV000317909]|Wagner syndrome [RCV000262452] | benign|likely benign | 5 | 83471911 | 83471911 | Human | 2 | name |
| 11588790 | CV298299 | single nucleotide variant | NM_004385.5(VCAN):c.*218G>A | Vitreoretinopathy [RCV000402090]|Wagner syndrome [RCV000305755] | benign|likely benign | 5 | 83580652 | 83580652 | Human | 2 | name |
| 11584936 | CV298302 | single nucleotide variant | NM_004385.5(VCAN):c.*707G>A | Vitreoretinopathy [RCV000331978]|Wagner syndrome [RCV000277396] | likely benign|uncertain significance | 5 | 83581141 | 83581141 | Human | 2 | name |
| 11652638 | CV300523 | single nucleotide variant | NM_004385.5(VCAN):c.-259C>T | Vitreoretinopathy [RCV000370336]|Wagner syndrome [RCV000306346] | uncertain significance | 5 | 83471771 | 83471771 | Human | 2 | name |
| 11653240 | CV304783 | single nucleotide variant | NM_004385.4(VCAN):c.-334C>T | Vitreoretinopathy [RCV000364496]|Wagner syndrome [RCV000309926] | uncertain significance | 5 | 83471696 | 83471696 | Human | 2 | name |
| 11644817 | CV304861 | single nucleotide variant | NM_004385.5(VCAN):c.*446T>C | Vitreoretinopathy [RCV000262088]|Wagner syndrome [RCV000298582] | uncertain significance | 5 | 83580880 | 83580880 | Human | 2 | name |
| 11600363 | CV304864 | single nucleotide variant | NM_004385.5(VCAN):c.*730A>G | Vitreoretinopathy [RCV000383135]|Wagner syndrome [RCV000273425]|not provided [RCV001683409] | benign | 5 | 83581164 | 83581164 | Human | 2 | name |
| 11601737 | CV304865 | single nucleotide variant | NM_004385.5(VCAN):c.*816C>A | Vitreoretinopathy [RCV000339790]|Wagner syndrome [RCV000284737]|not provided [RCV003422342] | benign|likely benign | 5 | 83581250 | 83581250 | Human | 3 | name |
| 11601737 | CV304865 | single nucleotide variant | NM_004385.5(VCAN):c.*816C>A | Vitreoretinopathy [RCV000339790]|Wagner syndrome [RCV000284737]|not provided [RCV003422342] | benign|likely benign | 5 | 83581250 | 83581251 | Human | 3 | name |
| 11601283 | CV304875 | single nucleotide variant | NM_004385.5(VCAN):c.*835G>A | Vitreoretinopathy [RCV000401758]|Wagner syndrome [RCV000281190] | likely benign | 5 | 83581269 | 83581269 | Human | 2 | name |
| 11601163 | CV304882 | single nucleotide variant | NM_004385.5(VCAN):c.*905A>G | Vitreoretinopathy [RCV000319147]|Wagner syndrome [RCV000280227]|not provided [RCV004695886] | uncertain significance | 5 | 83581339 | 83581339 | Human | 2 | name |
| 11650875 | CV304885 | deletion | NM_004385.5(VCAN):c.*909del | Vitreoretinopathy [RCV000295419]|Wagner syndrome [RCV000335239] | uncertain significance | 5 | 83581343 | 83581343 | Human | 2 | name |
| 11604155 | CV304886 | single nucleotide variant | NM_004385.5(VCAN):c.*961T>C | Vitreoretinopathy [RCV000365234]|Wagner syndrome [RCV000306855] | benign|likely benign | 5 | 83581395 | 83581395 | Human | 2 | name |
| 11649994 | CV305116 | single nucleotide variant | NM_004385.5(VCAN):c.*160A>G | Vitreoretinopathy [RCV000290433]|Wagner syndrome [RCV000345345] | uncertain significance | 5 | 83580594 | 83580594 | Human | 2 | name |
| 11604531 | CV305119 | single nucleotide variant | NM_004385.5(VCAN):c.*910A>C | Vitreoretinopathy [RCV000350247]|Wagner syndrome [RCV000310570] | benign | 5 | 83581344 | 83581344 | Human | 2 | name |
| 28904072 | CV894827 | single nucleotide variant | NM_004385.5(VCAN):c.*625G>A | Vitreoretinopathy [RCV001157845]|Wagner syndrome [RCV001157844] | uncertain significance | 5 | 83581059 | 83581059 | Human | 2 | name |
| 28890227 | CV894828 | single nucleotide variant | NM_004385.5(VCAN):c.*672A>G | Vitreoretinopathy [RCV001157846]|Wagner syndrome [RCV001152369] | benign | 5 | 83581106 | 83581106 | Human | 2 | name |
| 28890232 | CV894829 | single nucleotide variant | NM_004385.5(VCAN):c.*819T>C | Vitreoretinopathy [RCV001153651]|Wagner syndrome [RCV001152370] | uncertain significance | 5 | 83581253 | 83581253 | Human | 2 | name |
| 127317594 | CV1137098 | single nucleotide variant | NM_004385.5(VCAN):c.71-13C>A | not provided [RCV001483195] | likely benign | 5 | 83490085 | 83490085 | Human | | name |
| 127299353 | CV1155200 | single nucleotide variant | NM_004385.5(VCAN):c.71-18A>G | not provided [RCV001513653] | benign | 5 | 83490080 | 83490080 | Human | | name |
| 152168412 | CV1525093 | single nucleotide variant | NM_004385.5(VCAN):c.70+12A>G | not provided [RCV002182436] | likely benign | 5 | 83483600 | 83483600 | Human | | name |
| 152063313 | CV1554352 | single nucleotide variant | NM_004385.5(VCAN):c.70+17T>C | not provided [RCV002190796] | likely benign | 5 | 83483605 | 83483605 | Human | | name |
| 152078669 | CV1602169 | single nucleotide variant | NM_004385.5(VCAN):c.621-5C>T | not provided [RCV002149020] | likely benign | 5 | 83493799 | 83493799 | Human | | name |
| 152100514 | CV1606733 | single nucleotide variant | NM_004385.5(VCAN):c.621-7T>C | not provided [RCV002195487] | likely benign | 5 | 83493797 | 83493797 | Human | | name |
| 156206147 | CV2000623 | duplication | NM_004385.5(VCAN):c.749-5dup | not provided [RCV002666673] | benign | 5 | 83512090 | 83512091 | Human | | name |
| 156370027 | CV2171013 | single nucleotide variant | NM_004385.5(VCAN):c.70+15A>T | not provided [RCV003032155] | likely benign | 5 | 83483603 | 83483603 | Human | | name |
| 156016319 | CV2177514 | single nucleotide variant | NM_004385.5(VCAN):c.749-9T>C | not provided [RCV003035503] | likely benign | 5 | 83512094 | 83512094 | Human | | name |
| 402517083 | CV2936474 | single nucleotide variant | NM_004385.5(VCAN):c.70+16A>G | not provided [RCV003663032] | likely benign | 5 | 83483604 | 83483604 | Human | | name |
| 11583509 | CV298304 | single nucleotide variant | NM_004385.5(VCAN):c.*1031T>C | Vitreoretinopathy [RCV000301952]|Wagner syndrome [RCV000267030] | benign|uncertain significance | 5 | 83581465 | 83581465 | Human | 2 | name |
| 11644769 | CV298305 | single nucleotide variant | NM_004385.5(VCAN):c.*1091C>T | Vitreoretinopathy [RCV000356729]|Wagner syndrome [RCV000261845] | uncertain significance | 5 | 83581525 | 83581525 | Human | 2 | name |
| 11584779 | CV298306 | single nucleotide variant | NM_004385.5(VCAN):c.*1603T>C | Vitreoretinopathy [RCV000386262]|Wagner syndrome [RCV000276459] | benign | 5 | 83582037 | 83582037 | Human | 2 | name |
| 11587796 | CV298310 | single nucleotide variant | NM_004385.5(VCAN):c.*1678G>T | Vitreoretinopathy [RCV000390299]|Wagner syndrome [RCV000297927] | benign | 5 | 83582112 | 83582112 | Human | 2 | name |
| 11588209 | CV300623 | deletion | NM_004385.5(VCAN):c.*1548del | Vitreoretinopathy [RCV000356009]|Wagner syndrome [RCV000301098] | benign | 5 | 83581976 | 83581976 | Human | 2 | name |
| 11582651 | CV300624 | single nucleotide variant | NM_004385.5(VCAN):c.*1601T>A | Vitreoretinopathy [RCV000370873]|Wagner syndrome [RCV000261209] | benign | 5 | 83582035 | 83582035 | Human | 2 | name |
| 11600864 | CV304893 | single nucleotide variant | NM_004385.5(VCAN):c.*1266G>C | Vitreoretinopathy [RCV000332490]|Wagner syndrome [RCV000277322] | benign|likely benign | 5 | 83581700 | 83581700 | Human | 2 | name |
| 11650386 | CV304899 | single nucleotide variant | NM_004385.5(VCAN):c.*1408G>A | Vitreoretinopathy [RCV000292136]|Wagner syndrome [RCV000347131] | uncertain significance | 5 | 83581842 | 83581842 | Human | 2 | name |
| 11603863 | CV304902 | single nucleotide variant | NM_004385.5(VCAN):c.*1436C>T | Vitreoretinopathy [RCV000340396]|Wagner syndrome [RCV000304187] | benign | 5 | 83581870 | 83581870 | Human | 2 | name |
| 11602175 | CV304905 | single nucleotide variant | NM_004385.5(VCAN):c.*1652G>C | Vitreoretinopathy [RCV000379514]|Wagner syndrome [RCV000288496] | benign|likely benign | 5 | 83582086 | 83582086 | Human | 2 | name |
| 11602231 | CV305120 | single nucleotide variant | NM_004385.5(VCAN):c.*1429A>G | Vitreoretinopathy [RCV000383078]|Wagner syndrome [RCV000289067] | benign | 5 | 83581863 | 83581863 | Human | 2 | name |
| 11600385 | CV305122 | single nucleotide variant | NM_004385.5(VCAN):c.*1614G>T | Vitreoretinopathy [RCV000382750]|Wagner syndrome [RCV000273184] | benign|likely benign | 5 | 83582048 | 83582048 | Human | 2 | name |
| 11601772 | CV305123 | single nucleotide variant | NM_004385.5(VCAN):c.*1671C>T | Vitreoretinopathy [RCV000285073]|Wagner syndrome [RCV000337797] | uncertain significance | 5 | 83582105 | 83582105 | Human | 2 | name |
| 405004980 | CV3120855 | single nucleotide variant | NM_004385.5(VCAN):c.71-13C>T | not provided [RCV003828458] | likely benign | 5 | 83490085 | 83490085 | Human | | name |
| 28900423 | CV894830 | single nucleotide variant | NM_004385.5(VCAN):c.*1081C>T | Vitreoretinopathy [RCV001156255]|Wagner syndrome [RCV001156254] | benign | 5 | 83581515 | 83581515 | Human | 2 | name |
| 28904272 | CV894831 | single nucleotide variant | NM_004385.5(VCAN):c.*1296A>G | Vitreoretinopathy [RCV001157928]|Wagner syndrome [RCV001157927] | benign | 5 | 83581730 | 83581730 | Human | 2 | name |
| 28893941 | CV894832 | single nucleotide variant | NM_004385.5(VCAN):c.*1717C>A | Vitreoretinopathy [RCV001153737]|Wagner syndrome [RCV001156353] | benign | 5 | 83582151 | 83582151 | Human | 2 | name |
| 28900662 | CV894833 | single nucleotide variant | NM_004385.5(VCAN):c.*1717C>T | Vitreoretinopathy [RCV001156355]|Wagner syndrome [RCV001156354] | uncertain significance | 5 | 83582151 | 83582151 | Human | 2 | name |
| 28900665 | CV894834 | single nucleotide variant | NM_004385.5(VCAN):c.*1753C>T | Vitreoretinopathy [RCV001156357]|Wagner syndrome [RCV001156356] | uncertain significance | 5 | 83582187 | 83582187 | Human | 2 | name |
| 126920996 | CV1043773 | single nucleotide variant | NM_004385.5(VCAN):c.9493+5G>T | not provided [RCV001363213] | uncertain significance | 5 | 83548089 | 83548089 | Human | | name |
| 127275571 | CV1073009 | single nucleotide variant | NM_004385.5(VCAN):c.749-12T>C | not provided [RCV001406771] | likely benign | 5 | 83512091 | 83512091 | Human | | name |
| 127332552 | CV1137100 | deletion | NM_004385.5(VCAN):c.749-14del | not provided [RCV001489547] | likely benign | 5 | 83512088 | 83512088 | Human | | name |
| 127335835 | CV1137130 | single nucleotide variant | NM_004385.5(VCAN):c.9494-5C>T | not provided [RCV001491744] | likely benign | 5 | 83553359 | 83553359 | Human | | name |
| 127290395 | CV1155216 | duplication | NM_004385.5(VCAN):c.4004-4dup | not provided [RCV001509812] | benign | 5 | 83536996 | 83536997 | Human | | name |
| 150434644 | CV1215941 | single nucleotide variant | NM_004385.5(VCAN):c.71-176G>T | not provided [RCV001609129] | benign | 5 | 83489922 | 83489922 | Human | | name |
| 151818479 | CV1449833 | single nucleotide variant | NM_004385.5(VCAN):c.4004-3C>A | not provided [RCV001878979] | uncertain significance | 5 | 83537004 | 83537004 | Human | | name |
| 151724296 | CV1459258 | single nucleotide variant | NM_004385.5(VCAN):c.9266-6T>C | not provided [RCV002020587] | likely benign|uncertain significance | 5 | 83545531 | 83545531 | Human | | name |
| 152077801 | CV1601955 | single nucleotide variant | NM_004385.5(VCAN):c.4004-9T>A | not provided [RCV002148920] | likely benign | 5 | 83536998 | 83536998 | Human | | name |
| 152125197 | CV1640552 | single nucleotide variant | NM_004385.5(VCAN):c.9881-6C>T | not provided [RCV002176090] | likely benign | 5 | 83579974 | 83579974 | Human | | name |
| 156343890 | CV1970401 | single nucleotide variant | NM_004385.5(VCAN):c.4003+7C>A | not provided [RCV002601427] | likely benign | 5 | 83522316 | 83522316 | Human | | name |
| 156341273 | CV1984914 | single nucleotide variant | NM_004385.5(VCAN):c.9379+6A>T | not provided [RCV002631443] | uncertain significance | 5 | 83545656 | 83545656 | Human | | name |
| 156372000 | CV1993569 | single nucleotide variant | NM_004385.5(VCAN):c.748+20A>G | not provided [RCV002652974] | likely benign | 5 | 83493951 | 83493951 | Human | | name |
| 156085158 | CV2008730 | single nucleotide variant | NM_004385.5(VCAN):c.9379+6A>G | not provided [RCV002706120] | uncertain significance | 5 | 83545656 | 83545656 | Human | | name |
| 156274528 | CV2014835 | single nucleotide variant | NM_004385.5(VCAN):c.620+16G>A | not provided [RCV002715094] | likely benign | 5 | 83493736 | 83493736 | Human | | name |
| 155904050 | CV2031303 | single nucleotide variant | NM_004385.5(VCAN):c.9881-3T>C | not provided [RCV002726359] | uncertain significance | 5 | 83579977 | 83579977 | Human | | name |
| 155940976 | CV2054971 | single nucleotide variant | NM_004385.5(VCAN):c.4004-3C>G | not provided [RCV002815694] | uncertain significance | 5 | 83537004 | 83537004 | Human | | name |
| 156279153 | CV2074553 | single nucleotide variant | NM_004385.5(VCAN):c.9880+7A>G | not provided [RCV002856320] | likely benign | 5 | 83572567 | 83572567 | Human | | name |
| 10766738 | CV216061 | single nucleotide variant | NM_004385.5(VCAN):c.4004-6T>A | Wagner syndrome [RCV000203372] | pathogenic|not provided | 5 | 83537001 | 83537001 | Human | 1 | name |
| 10766712 | CV216062 | single nucleotide variant | NM_004385.5(VCAN):c.4004-1G>T | Wagner syndrome [RCV000203314]|not provided [RCV003556260] | pathogenic|not provided | 5 | 83537006 | 83537006 | Human | 1 | name |
| 10766739 | CV216063 | single nucleotide variant | NM_004385.5(VCAN):c.9265+1G>T | Wagner syndrome [RCV000203374] | pathogenic|likely pathogenic | 5 | 83542269 | 83542269 | Human | 1 | name |
| 11549516 | CV252036 | single nucleotide variant | NM_004385.5(VCAN):c.9379+7T>C | Vitreoretinopathy [RCV000382639]|Wagner syndrome [RCV000271739]|not provided [RCV001516996]|not specified [RCV000250519] | benign | 5 | 83545657 | 83545657 | Human | 2 | name |
| 401906126 | CV2802449 | single nucleotide variant | NM_004385.5(VCAN):c.9493+5G>A | VCAN-related disorder [RCV003421068]|not provided [RCV005062918] | uncertain significance | 5 | 83548089 | 83548089 | Human | 1 | name , alternate_id |
| 405032492 | CV2922603 | single nucleotide variant | NM_004385.5(VCAN):c.9265+2T>C | not provided [RCV003578464] | pathogenic | 5 | 83542270 | 83542270 | Human | | name |
| 405233226 | CV2965463 | single nucleotide variant | NM_004385.5(VCAN):c.9380-9T>C | not provided [RCV003682601] | likely benign | 5 | 83547962 | 83547962 | Human | | name |
| 11587300 | CV298298 | single nucleotide variant | NM_004385.5(VCAN):c.9380-4T>A | VCAN-related disorder [RCV003957827]|Vitreoretinopathy [RCV000293922]|Wagner syndrome [RCV000329145]|not provided [RCV001515745] | benign|likely benign | 5 | 83547967 | 83547967 | Human | 2 | name , alternate_id |
| 405120107 | CV2993971 | single nucleotide variant | NM_004385.5(VCAN):c.9265+5G>A | not provided [RCV003723795] | uncertain significance | 5 | 83542273 | 83542273 | Human | | name |
| 404994025 | CV2996021 | single nucleotide variant | NM_004385.5(VCAN):c.9265+3A>G | not provided [RCV003692565] | uncertain significance | 5 | 83542271 | 83542271 | Human | | name |
| 405021508 | CV3139245 | single nucleotide variant | NM_004385.5(VCAN):c.9881-6C>A | not provided [RCV003829888] | likely benign | 5 | 83579974 | 83579974 | Human | | name |
| 405237632 | CV3165345 | single nucleotide variant | NM_004385.5(VCAN):c.445+20C>A | not provided [RCV003866547] | likely benign | 5 | 83490492 | 83490492 | Human | | name |
| 8600596 | CV32533 | single nucleotide variant | NM_004385.5(VCAN):c.4004-2A>G | Inborn genetic diseases [RCV001267039]|Retinal dystrophy [RCV001074432]|Wagner syndrome [RCV000019046]|not provided [RCV001851934] | pathogenic | 5 | 83537005 | 83537005 | Human | 4 | name |
| 8601142 | CV34257 | single nucleotide variant | NM_004385.5(VCAN):c.4004-1G>A | Stickler syndrome [RCV004556050]|Wagner syndrome [RCV000020591] | pathogenic | 5 | 83537006 | 83537006 | Human | 2 | name |
| 8601143 | CV34258 | single nucleotide variant | NM_004385.5(VCAN):c.4004-5T>A | Wagner syndrome [RCV000020592] | pathogenic | 5 | 83537002 | 83537002 | Human | 1 | name |
| 8601144 | CV34259 | single nucleotide variant | NM_004385.5(VCAN):c.4004-5T>C | Wagner syndrome [RCV000020593]|not provided [RCV001723583] | pathogenic | 5 | 83537002 | 83537002 | Human | 1 | name |
| 8601145 | CV34260 | single nucleotide variant | NM_004385.5(VCAN):c.9265+1G>A | Wagner syndrome [RCV000020594]|not provided [RCV001222448] | pathogenic | 5 | 83542269 | 83542269 | Human | 1 | name |
| 597908558 | CV3781683 | single nucleotide variant | NM_004385.5(VCAN):c.4003+5G>A | not provided [RCV005128371] | uncertain significance | 5 | 83522314 | 83522314 | Human | | name |
| 597868742 | CV3803380 | single nucleotide variant | NM_004385.5(VCAN):c.9266-5G>A | not provided [RCV005147977] | uncertain significance | 5 | 83545532 | 83545532 | Human | | name |
| 8604986 | CV50315 | single nucleotide variant | NM_004385.5(VCAN):c.4004-2A>T | Wagner syndrome [RCV000034807]|not provided [RCV002513342] | pathogenic | 5 | 83537005 | 83537005 | Human | 1 | name |
| 8604987 | CV50316 | single nucleotide variant | NM_004385.5(VCAN):c.9265+2T>A | Wagner syndrome [RCV000034808] | pathogenic | 5 | 83542270 | 83542270 | Human | 1 | name |
| 8604988 | CV50317 | single nucleotide variant | NM_004385.5(VCAN):c.4004-1G>C | Wagner syndrome [RCV000034809] | pathogenic | 5 | 83537006 | 83537006 | Human | 1 | name |
| 38464558 | CV801381 | single nucleotide variant | NM_004385.5(VCAN):c.4004-2A>C | Wagner syndrome [RCV001199596]|not provided [RCV001860545] | pathogenic | 5 | 83537005 | 83537005 | Human | 1 | name |
| 26897848 | CV851300 | single nucleotide variant | NM_004385.5(VCAN):c.9265+1G>C | not provided [RCV001066142] | pathogenic | 5 | 83542269 | 83542269 | Human | | name |
| 28893182 | CV896140 | single nucleotide variant | NM_004385.5(VCAN):c.9265+4A>G | Vitreoretinopathy [RCV001153440]|Wagner syndrome [RCV001153439] | uncertain significance | 5 | 83542272 | 83542272 | Human | 2 | name |
| 28889923 | CV896142 | single nucleotide variant | NM_004385.5(VCAN):c.9494-9T>G | Vitreoretinopathy [RCV001152261]|Wagner syndrome [RCV001157753] | uncertain significance | 5 | 83553355 | 83553355 | Human | 2 | name |
| 38470841 | CV959780 | single nucleotide variant | NM_004385.5(VCAN):c.9736-6T>G | not provided [RCV001231092] | likely benign|uncertain significance | 5 | 83572410 | 83572410 | Human | | name |
| 127290122 | CV1155215 | single nucleotide variant | NM_004385.5(VCAN):c.4003+16C>G | not provided [RCV001509658] | benign | 5 | 83522325 | 83522325 | Human | | name |
| 127312110 | CV1155222 | single nucleotide variant | NM_004385.5(VCAN):c.9652+20G>C | not provided [RCV001518842] | benign | 5 | 83553542 | 83553542 | Human | | name |
| 150437338 | CV1262289 | single nucleotide variant | NM_004385.5(VCAN):c.9736-62G>A | not provided [RCV001678647] | benign | 5 | 83572354 | 83572354 | Human | | name |
| 150458040 | CV1278711 | single nucleotide variant | NM_004385.5(VCAN):c.9494-63T>A | not provided [RCV001709327] | benign | 5 | 83553301 | 83553301 | Human | | name |
| 152059228 | CV1536043 | single nucleotide variant | NM_004385.5(VCAN):c.9652+19C>T | not provided [RCV002146578] | likely benign | 5 | 83553541 | 83553541 | Human | | name |
| 152039457 | CV1538477 | single nucleotide variant | NM_004385.5(VCAN):c.9379+15G>A | not provided [RCV002206118] | likely benign | 5 | 83545665 | 83545665 | Human | | name |
| 152170818 | CV1592595 | single nucleotide variant | NM_004385.5(VCAN):c.9736-16C>T | not provided [RCV002161897] | likely benign | 5 | 83572400 | 83572400 | Human | | name |
| 152171047 | CV1612736 | single nucleotide variant | NM_004385.5(VCAN):c.9493+14C>A | not provided [RCV002183367] | likely benign | 5 | 83548098 | 83548098 | Human | | name |
| 152089320 | CV1633978 | single nucleotide variant | NM_004385.5(VCAN):c.1042+16C>A | not provided [RCV002194089] | likely benign | 5 | 83512412 | 83512412 | Human | | name |
| 152160120 | CV1642379 | single nucleotide variant | NM_004385.5(VCAN):c.9379+11A>T | not provided [RCV002103640] | likely benign | 5 | 83545661 | 83545661 | Human | | name |
| 155904811 | CV1975923 | single nucleotide variant | NM_004385.5(VCAN):c.10063+8G>C | not provided [RCV002613610] | likely benign | 5 | 83580170 | 83580170 | Human | | name |
| 156217399 | CV2028727 | single nucleotide variant | NM_004385.5(VCAN):c.9880+12C>T | not provided [RCV002712005] | likely benign | 5 | 83572572 | 83572572 | Human | | name |
| 156339851 | CV2055301 | duplication | NM_004385.5(VCAN):c.1042+21dup | not provided [RCV002811139] | benign | 5 | 83512412 | 83512413 | Human | | name |
| 155981326 | CV2090470 | single nucleotide variant | NM_004385.5(VCAN):c.9494-12G>A | not provided [RCV002881948] | likely benign | 5 | 83553352 | 83553352 | Human | | name |
| 156201202 | CV2110057 | single nucleotide variant | NM_004385.5(VCAN):c.9494-15C>T | not provided [RCV002957385] | likely benign | 5 | 83553349 | 83553349 | Human | | name |
| 156113283 | CV2117411 | single nucleotide variant | NM_004385.5(VCAN):c.9881-16A>G | not provided [RCV002953206] | likely benign | 5 | 83579964 | 83579964 | Human | | name |
| 156068948 | CV2147938 | single nucleotide variant | NM_004385.5(VCAN):c.1042+15C>T | not provided [RCV003037506] | likely benign | 5 | 83512411 | 83512411 | Human | | name |
| 156396976 | CV2178300 | single nucleotide variant | NM_004385.5(VCAN):c.9881-18C>T | not provided [RCV003051938] | likely benign | 5 | 83579962 | 83579962 | Human | | name |
| 405172537 | CV2897697 | single nucleotide variant | NM_004385.5(VCAN):c.9493+14C>T | not provided [RCV003563242] | likely benign | 5 | 83548098 | 83548098 | Human | | name |
| 11585675 | CV300534 | single nucleotide variant | NM_004385.5(VCAN):c.1043-10A>G | Vitreoretinopathy [RCV000282548]|Wagner syndrome [RCV000337530]|not provided [RCV001523649] | benign | 5 | 83519339 | 83519339 | Human | 23 | name |
| 402524386 | CV3011574 | single nucleotide variant | NM_004385.5(VCAN):c.4003+13T>A | not provided [RCV003716673] | likely benign | 5 | 83522322 | 83522322 | Human | | name |
| 11603946 | CV304848 | single nucleotide variant | NM_004385.5(VCAN):c.9880+11C>A | Vitreoretinopathy [RCV000340065]|Wagner syndrome [RCV000304948]|not provided [RCV005090575] | likely benign | 5 | 83572571 | 83572571 | Human | 2 | name |
| 405113625 | CV3133771 | single nucleotide variant | NM_004385.5(VCAN):c.9493+18A>G | not provided [RCV003836565] | likely benign | 5 | 83548102 | 83548102 | Human | | name |
| 405242080 | CV3173249 | single nucleotide variant | NM_004385.5(VCAN):c.4003+15T>C | not provided [RCV003867534] | likely benign | 5 | 83522324 | 83522324 | Human | | name |
| 597845847 | CV3736341 | single nucleotide variant | NM_004385.5(VCAN):c.9265+15T>C | not provided [RCV005065689] | likely benign | 5 | 83542283 | 83542283 | Human | | name |
| 597968928 | CV3791153 | single nucleotide variant | NM_004385.5(VCAN):c.9493+11T>C | not provided [RCV005141185] | likely benign | 5 | 83548095 | 83548095 | Human | | name |
| 597909603 | CV3830045 | single nucleotide variant | NM_004385.5(VCAN):c.9265+16T>A | not provided [RCV005182614] | likely benign | 5 | 83542284 | 83542284 | Human | | name |
| 598123630 | CV3890416 | single nucleotide variant | NM_004385.5(VCAN):c.10063+1G>A | not provided [RCV005250935] | uncertain significance | 5 | 83580163 | 83580163 | Human | | name |
| 28893186 | CV896141 | single nucleotide variant | NM_004385.5(VCAN):c.9266-14C>T | Vitreoretinopathy [RCV001156032]|Wagner syndrome [RCV001153441] | uncertain significance | 5 | 83545523 | 83545523 | Human | 2 | name |
| 150434153 | CV1230717 | single nucleotide variant | NM_004385.5(VCAN):c.9653-144A>G | not provided [RCV001643663] | benign | 5 | 83554812 | 83554812 | Human | | name |
| 150431708 | CV1236498 | single nucleotide variant | NM_004385.5(VCAN):c.9266-129T>A | not provided [RCV001641902] | benign | 5 | 83545408 | 83545408 | Human | | name |
| 150462388 | CV1273003 | single nucleotide variant | NM_004385.5(VCAN):c.9653-188C>T | not provided [RCV001693760] | benign | 5 | 83554768 | 83554768 | Human | | name |
| 150457763 | CV1278672 | single nucleotide variant | NM_004385.5(VCAN):c.9380-181G>A | not provided [RCV001709288] | benign | 5 | 83547790 | 83547790 | Human | 1 | name |
| 152127605 | CV1534058 | single nucleotide variant | NM_004385.5(VCAN):c.10064-15T>C | not provided [RCV002136521] | likely benign | 5 | 83580292 | 83580292 | Human | | name |
| 155933459 | CV2153264 | single nucleotide variant | NM_004385.5(VCAN):c.10064-14T>G | not provided [RCV003013770] | likely benign | 5 | 83580293 | 83580293 | Human | | name |
| 405213579 | CV3169889 | single nucleotide variant | NM_004385.5(VCAN):c.10063+19A>G | not provided [RCV003862493] | likely benign | 5 | 83580181 | 83580181 | Human | | name |
| 150435800 | CV1233961 | deletion | NM_004385.5(VCAN):c.*900_*908del | not provided [RCV001644088] | benign | 5 | 83581318 | 83581326 | Human | | name |
| 150483901 | CV1280308 | deletion | NM_004385.5(VCAN):c.*901_*908del | not provided [RCV001715266] | benign | 5 | 83581318 | 83581325 | Human | | name |
| 11648580 | CV298303 | deletion | NM_004385.5(VCAN):c.*905_*912del | Vitreoretinopathy [RCV000323651]|Wagner syndrome [RCV000282769] | uncertain significance | 5 | 83581336 | 83581343 | Human | 2 | name |
| 11588311 | CV300619 | deletion | NM_004385.5(VCAN):c.*232_*235del | Vitreoretinopathy [RCV000301855]|Wagner syndrome [RCV000356652] | likely benign | 5 | 83580663 | 83580666 | Human | 2 | name |
| 11646593 | CV300620 | deletion | NM_004385.5(VCAN):c.*883_*885del | Vitreoretinopathy [RCV000366489]|Wagner syndrome [RCV000271908] | uncertain significance | 5 | 83581317 | 83581319 | Human | 2 | name |
| 11654140 | CV304881 | deletion | NM_004385.5(VCAN):c.*881_*883del | Vitreoretinopathy [RCV000402370]|Wagner syndrome [RCV000315109] | uncertain significance | 5 | 83581315 | 83581317 | Human | 2 | name |
| 11649753 | CV305117 | duplication | NM_004385.5(VCAN):c.*813_*816dup | Vitreoretinopathy [RCV000288965]|Wagner syndrome [RCV000325254]|not provided [RCV003430915] | benign|uncertain significance | 5 | 83581246 | 83581247 | Human | 2 | name |
| 151775750 | CV1450456 | deletion | NM_004385.5(VCAN):c.9494-9_9494-6del | not provided [RCV001915416] | likely benign|uncertain significance | 5 | 83553353 | 83553356 | Human | | name |
| 152106023 | CV1572644 | single nucleotide variant | NM_004385.5(VCAN):c.60G>A (p.Ala20=) | not provided [RCV002152409] | likely benign | 5 | 83483578 | 83483578 | Human | | name |
| 155969435 | CV2077115 | deletion | NM_004385.5(VCAN):c.4004-350_4461del | not provided [RCV002863242] | likely pathogenic | 5 | 83536655 | 83537462 | Human | | name |
| 405176856 | CV2915804 | inversion | NM_004385.5(VCAN):c.9379+7_9379+8inv | not provided [RCV003563613] | uncertain significance | 5 | 83545657 | 83545658 | Human | | name |
| 405008443 | CV2926891 | single nucleotide variant | NM_004385.5(VCAN):c.54C>A (p.Thr18=) | not provided [RCV003576528] | likely benign | 5 | 83483572 | 83483572 | Human | | name |
| 11646046 | CV300622 | indel | NM_004385.5(VCAN):c.*898_*905delinsG | Vitreoretinopathy [RCV000268633]|Wagner syndrome [RCV000327160] | uncertain significance | 5 | 83581332 | 83581339 | Human | | name |
| 405197030 | CV3138777 | single nucleotide variant | NM_004385.5(VCAN):c.93G>A (p.Pro31=) | not provided [RCV003821593] | likely benign | 5 | 83490120 | 83490120 | Human | | name |
| 15160641 | CV735241 | single nucleotide variant | NM_004385.5(VCAN):c.61C>T (p.Leu21=) | not provided [RCV000903185] | likely benign | 5 | 83483579 | 83483579 | Human | | name |
| 127327376 | CV1116132 | single nucleotide variant | NM_004385.5(VCAN):c.186C>A (p.Leu62=) | not provided [RCV001469059] | likely benign | 5 | 83490213 | 83490213 | Human | | name |
| 127321615 | CV1116135 | deletion | NM_004385.5(VCAN):c.1042+8_1042+11del | not provided [RCV001467325] | likely benign | 5 | 83512402 | 83512405 | Human | | name |
| 151800676 | CV1442192 | single nucleotide variant | NM_004385.5(VCAN):c.14T>C (p.Ile5Thr) | not provided [RCV002011538] | uncertain significance | 5 | 83483532 | 83483532 | Human | | name |
| 151760455 | CV1497223 | single nucleotide variant | NM_004385.5(VCAN):c.261A>G (p.Gln87=) | not provided [RCV001987206] | likely benign|uncertain significance | 5 | 83490288 | 83490288 | Human | | name |
| 152027562 | CV1520876 | single nucleotide variant | NM_004385.5(VCAN):c.123C>T (p.Ser41=) | not provided [RCV002085170] | likely benign | 5 | 83490150 | 83490150 | Human | | name |
| 152174377 | CV1622417 | single nucleotide variant | NM_004385.5(VCAN):c.144G>A (p.Thr48=) | not provided [RCV002184488] | likely benign | 5 | 83490171 | 83490171 | Human | | name |
| 152081324 | CV1645051 | single nucleotide variant | NM_004385.5(VCAN):c.120C>T (p.Val40=) | not provided [RCV002149348] | likely benign | 5 | 83490147 | 83490147 | Human | | name |
| 152037189 | CV1646326 | single nucleotide variant | NM_004385.5(VCAN):c.159A>G (p.Pro53=) | not provided [RCV002205790] | likely benign | 5 | 83490186 | 83490186 | Human | | name |
| 156148301 | CV2037492 | single nucleotide variant | NM_004385.5(VCAN):c.124C>T (p.Leu42=) | not provided [RCV002786767] | likely benign | 5 | 83490151 | 83490151 | Human | | name |
| 156152701 | CV2098536 | single nucleotide variant | NM_004385.5(VCAN):c.183T>C (p.Phe61=) | not provided [RCV002890707] | likely benign | 5 | 83490210 | 83490210 | Human | | name |
| 156163168 | CV2174209 | duplication | NM_004385.5(VCAN):c.1042+9_1042+10dup | not provided [RCV003056981] | likely benign | 5 | 83512403 | 83512404 | Human | | name |
| 402492881 | CV3008400 | single nucleotide variant | NM_004385.5(VCAN):c.111T>G (p.Ser37=) | not provided [RCV003687708] | likely benign | 5 | 83490138 | 83490138 | Human | | name |
| 11653928 | CV304787 | single nucleotide variant | NM_004385.5(VCAN):c.297G>C (p.Gly99=) | Vitreoretinopathy [RCV000404443]|Wagner syndrome [RCV000314125] | uncertain significance | 5 | 83490324 | 83490324 | Human | 2 | name |
| 28895162 | CV894775 | single nucleotide variant | NM_004385.5(VCAN):c.249C>A (p.Val83=) | Vitreoretinopathy [RCV001155003]|Wagner syndrome [RCV001154168]|not provided [RCV002070883] | likely benign | 5 | 83490276 | 83490276 | Human | 2 | name |
| 127247061 | CV1073007 | single nucleotide variant | NM_004385.5(VCAN):c.660T>C (p.Asp220=) | not provided [RCV001399077] | likely benign | 5 | 83493843 | 83493843 | Human | | name |
| 127244764 | CV1073008 | single nucleotide variant | NM_004385.5(VCAN):c.717C>T (p.Tyr239=) | not provided [RCV001416389] | likely benign | 5 | 83493900 | 83493900 | Human | | name |
| 127231322 | CV1073010 | single nucleotide variant | NM_004385.5(VCAN):c.867C>T (p.Asn289=) | not provided [RCV001395242] | likely benign | 5 | 83512221 | 83512221 | Human | | name |
| 127278432 | CV1073011 | single nucleotide variant | NM_004385.5(VCAN):c.897G>A (p.Leu299=) | not provided [RCV001408467] | likely benign | 5 | 83512251 | 83512251 | Human | | name |
| 127258716 | CV1094599 | single nucleotide variant | NM_004385.5(VCAN):c.405G>A (p.Gly135=) | VCAN-related disorder [RCV003965808]|not provided [RCV001427418] | likely benign | 5 | 83490432 | 83490432 | Human | 1 | name , alternate_id |
| 127274527 | CV1094600 | single nucleotide variant | NM_004385.5(VCAN):c.579T>C (p.Phe193=) | not provided [RCV001442886] | likely benign | 5 | 83493679 | 83493679 | Human | | name |
| 127257153 | CV1094601 | single nucleotide variant | NM_004385.5(VCAN):c.855G>T (p.Ala285=) | not provided [RCV001427022] | likely benign | 5 | 83512209 | 83512209 | Human | | name |
| 127334974 | CV1116133 | single nucleotide variant | NM_004385.5(VCAN):c.312C>T (p.Pro104=) | not provided [RCV001473952] | likely benign | 5 | 83490339 | 83490339 | Human | | name |
| 127295490 | CV1116134 | single nucleotide variant | NM_004385.5(VCAN):c.435G>T (p.Leu145=) | not provided [RCV001477106] | likely benign | 5 | 83490462 | 83490462 | Human | | name |
| 127307675 | CV1137099 | single nucleotide variant | NM_004385.5(VCAN):c.522C>T (p.Asp174=) | not provided [RCV001500554] | likely benign | 5 | 83493622 | 83493622 | Human | | name |
| 127302317 | CV1137101 | single nucleotide variant | NM_004385.5(VCAN):c.945T>C (p.Cys315=) | not provided [RCV001478914] | likely benign | 5 | 83512299 | 83512299 | Human | | name |
| 127315046 | CV1155201 | single nucleotide variant | NM_004385.5(VCAN):c.849C>T (p.Leu283=) | VCAN-related disorder [RCV003931118]|not provided [RCV001519856] | benign|likely benign | 5 | 83512203 | 83512203 | Human | 1 | name , alternate_id |
| 150454357 | CV1265990 | duplication | NM_004385.5(VCAN):c.9380-78_9380-76dup | not provided [RCV001692567] | benign | 5 | 83547892 | 83547893 | Human | | name |
| 150545936 | CV1297049 | single nucleotide variant | NM_004385.5(VCAN):c.46A>G (p.Ile16Val) | not provided [RCV001763340] | uncertain significance | 5 | 83483564 | 83483564 | Human | | name |
| 151790495 | CV1389126 | single nucleotide variant | NM_004385.5(VCAN):c.77T>C (p.Val26Ala) | not provided [RCV002010653] | uncertain significance | 5 | 83490104 | 83490104 | Human | | name |
| 152055124 | CV1564497 | single nucleotide variant | NM_004385.5(VCAN):c.955C>T (p.Leu319=) | not provided [RCV002146132] | likely benign | 5 | 83512309 | 83512309 | Human | | name |
| 152077070 | CV1564617 | single nucleotide variant | NM_004385.5(VCAN):c.786C>G (p.Thr262=) | not provided [RCV002192552] | likely benign | 5 | 83512140 | 83512140 | Human | | name |
| 152086275 | CV1589738 | single nucleotide variant | NM_004385.5(VCAN):c.849C>G (p.Leu283=) | not provided [RCV002193678] | likely benign | 5 | 83512203 | 83512203 | Human | | name |
| 152155963 | CV1615676 | single nucleotide variant | NM_004385.5(VCAN):c.615T>C (p.Thr205=) | not provided [RCV002158847] | likely benign | 5 | 83493715 | 83493715 | Human | | name |
| 152176587 | CV1631609 | single nucleotide variant | NM_004385.5(VCAN):c.744G>C (p.Leu248=) | not provided [RCV002164733] | likely benign | 5 | 83493927 | 83493927 | Human | | name |
| 152104592 | CV1633798 | single nucleotide variant | NM_004385.5(VCAN):c.321C>T (p.Pro107=) | not provided [RCV002195986] | likely benign | 5 | 83490348 | 83490348 | Human | | name |
| 152162210 | CV1635704 | single nucleotide variant | NM_004385.5(VCAN):c.468G>A (p.Ala156=) | not provided [RCV002203630] | likely benign | 5 | 83493568 | 83493568 | Human | | name |
| 152097785 | CV1639733 | single nucleotide variant | NM_004385.5(VCAN):c.882C>T (p.Cys294=) | not provided [RCV002078583] | likely benign | 5 | 83512236 | 83512236 | Human | | name |
| 152067441 | CV1647180 | single nucleotide variant | NM_004385.5(VCAN):c.888C>T (p.Tyr296=) | not provided [RCV002129160] | likely benign | 5 | 83512242 | 83512242 | Human | | name |
| 9693444 | CV178143 | single nucleotide variant | NM_004385.5(VCAN):c.927T>C (p.Thr309=) | Vitreoretinopathy [RCV001154281]|Wagner syndrome [RCV001154280]|not provided [RCV000154115] | benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 83512281 | 83512281 | Human | 2 | name |
| 156097566 | CV1981051 | single nucleotide variant | NM_004385.5(VCAN):c.402C>T (p.Tyr134=) | not provided [RCV002622091] | likely benign | 5 | 83490429 | 83490429 | Human | | name |
| 156098369 | CV1981105 | single nucleotide variant | NM_004385.5(VCAN):c.88C>T (p.Pro30Ser) | not provided [RCV002622119] | uncertain significance | 5 | 83490115 | 83490115 | Human | | name |
| 155993137 | CV1990604 | single nucleotide variant | NM_004385.5(VCAN):c.900G>A (p.Ser300=) | not provided [RCV002618108] | likely benign | 5 | 83512254 | 83512254 | Human | | name |
| 156166906 | CV1993331 | single nucleotide variant | NM_004385.5(VCAN):c.492T>C (p.Asn164=) | not provided [RCV002642605] | likely benign | 5 | 83493592 | 83493592 | Human | | name |
| 156338628 | CV1997415 | single nucleotide variant | NM_004385.5(VCAN):c.891G>A (p.Gly297=) | VCAN-related disorder [RCV003971351]|not provided [RCV002650199] | likely benign | 5 | 83512245 | 83512245 | Human | 1 | name , alternate_id |
| 156324704 | CV2032328 | single nucleotide variant | NM_004385.5(VCAN):c.825C>A (p.Ala275=) | not provided [RCV002717334] | likely benign | 5 | 83512179 | 83512179 | Human | | name |
| 155986628 | CV2056123 | single nucleotide variant | NM_004385.5(VCAN):c.933C>T (p.Ala311=) | not provided [RCV002819010] | likely benign | 5 | 83512287 | 83512287 | Human | | name |
| 155987977 | CV2070504 | deletion | NM_004385.5(VCAN):c.221del (p.Asn74fs) | not provided [RCV002842831] | uncertain significance | 5 | 83490244 | 83490244 | Human | | name |
| 156253924 | CV2082719 | single nucleotide variant | NM_004385.5(VCAN):c.834A>G (p.Ala278=) | not provided [RCV002877038] | likely benign | 5 | 83512188 | 83512188 | Human | | name |
| 155905903 | CV2084188 | single nucleotide variant | NM_004385.5(VCAN):c.864G>A (p.Arg288=) | not provided [RCV002858152] | likely benign | 5 | 83512218 | 83512218 | Human | | name |
| 156365620 | CV2130602 | single nucleotide variant | NM_004385.5(VCAN):c.363G>A (p.Leu121=) | not provided [RCV002967279] | likely benign | 5 | 83490390 | 83490390 | Human | | name |
| 155954464 | CV2161564 | single nucleotide variant | NM_004385.5(VCAN):c.954T>A (p.Gly318=) | not provided [RCV003032607] | likely benign | 5 | 83512308 | 83512308 | Human | | name |
| 156302512 | CV2166603 | single nucleotide variant | NM_004385.5(VCAN):c.780A>G (p.Lys260=) | not provided [RCV003045620] | likely benign | 5 | 83512134 | 83512134 | Human | | name |
| 156109092 | CV2177224 | single nucleotide variant | NM_004385.5(VCAN):c.64C>T (p.His22Tyr) | not provided [RCV003055019] | uncertain significance | 5 | 83483582 | 83483582 | Human | | name |
| 156013356 | CV2177225 | single nucleotide variant | NM_004385.5(VCAN):c.69A>T (p.Lys23Asn) | not provided [RCV003035359] | uncertain significance | 5 | 83483587 | 83483587 | Human | | name |
| 156237444 | CV2183794 | single nucleotide variant | NM_004385.5(VCAN):c.57T>G (p.His19Gln) | not provided [RCV003059536] | uncertain significance | 5 | 83483575 | 83483575 | Human | | name |
| 11552546 | CV252020 | single nucleotide variant | NM_004385.5(VCAN):c.348T>C (p.Thr116=) | Vitreoretinopathy [RCV000300511]|Wagner syndrome [RCV000260409]|not provided [RCV001520313]|not specified [RCV000254535] | benign | 5 | 83490375 | 83490375 | Human | 2 | name |
| 11546343 | CV252021 | single nucleotide variant | NM_004385.5(VCAN):c.393C>T (p.Asp131=) | Vitreoretinopathy [RCV000266409]|Wagner syndrome [RCV000315619]|not provided [RCV001521791]|not specified [RCV000246335] | benign | 5 | 83490420 | 83490420 | Human | 2 | name |
| 11545104 | CV252023 | single nucleotide variant | NM_004385.5(VCAN):c.645A>G (p.Val215=) | Vitreoretinopathy [RCV000298722]|Wagner syndrome [RCV000338361]|not provided [RCV001520314]|not specified [RCV000244690] | benign | 5 | 83493828 | 83493828 | Human | 4 | name |
| 402478986 | CV2853848 | single nucleotide variant | NM_004385.5(VCAN):c.31A>T (p.Met11Leu) | not provided [RCV003543809] | uncertain significance | 5 | 83483549 | 83483549 | Human | | name |
| 405072750 | CV2872941 | single nucleotide variant | NM_004385.5(VCAN):c.738T>C (p.Asp246=) | not provided [RCV003548629] | likely benign | 5 | 83493921 | 83493921 | Human | | name |
| 405067646 | CV2936626 | single nucleotide variant | NM_004385.5(VCAN):c.687T>A (p.Thr229=) | not provided [RCV003659125] | likely benign | 5 | 83493870 | 83493870 | Human | | name |
| 405214067 | CV2971281 | single nucleotide variant | NM_004385.5(VCAN):c.723G>T (p.Val241=) | not provided [RCV003679699] | likely benign | 5 | 83493906 | 83493906 | Human | | name |
| 405248015 | CV2977283 | single nucleotide variant | NM_004385.5(VCAN):c.55C>T (p.His19Tyr) | not provided [RCV003720983] | uncertain significance | 5 | 83483573 | 83483573 | Human | | name |
| 11586896 | CV298219 | single nucleotide variant | NM_004385.5(VCAN):c.426G>A (p.Thr142=) | Vitreoretinopathy [RCV000291292]|Wagner syndrome [RCV000321872]|not provided [RCV000961625] | benign | 5 | 83490453 | 83490453 | Human | 2 | name |
| 11647295 | CV298229 | single nucleotide variant | NM_004385.5(VCAN):c.930G>A (p.Val310=) | Vitreoretinopathy [RCV000388812]|Wagner syndrome [RCV000275753] | uncertain significance | 5 | 83512284 | 83512284 | Human | 2 | name |
| 11602632 | CV304788 | single nucleotide variant | NM_004385.5(VCAN):c.591C>T (p.Asp197=) | Vitreoretinopathy [RCV000388088]|Wagner syndrome [RCV000292761]|not provided [RCV000912442] | benign|likely benign | 5 | 83493691 | 83493691 | Human | 2 | name |
| 11603870 | CV304790 | single nucleotide variant | NM_004385.5(VCAN):c.690T>C (p.Tyr230=) | Vitreoretinopathy [RCV000390579]|Wagner syndrome [RCV000304228]|not provided [RCV001519813] | benign|likely benign | 5 | 83493873 | 83493873 | Human | 2 | name |
| 405215135 | CV3124464 | single nucleotide variant | NM_004385.5(VCAN):c.789C>T (p.Phe263=) | not provided [RCV003823826] | likely benign | 5 | 83512143 | 83512143 | Human | | name |
| 405145712 | CV3155826 | single nucleotide variant | NM_004385.5(VCAN):c.720T>C (p.Asp240=) | not provided [RCV003855868] | likely benign | 5 | 83493903 | 83493903 | Human | | name |
| 405249882 | CV3180574 | single nucleotide variant | NM_004385.5(VCAN):c.333C>A (p.Gly111=) | not provided [RCV003869851] | likely benign | 5 | 83490360 | 83490360 | Human | | name |
| 597862985 | CV3745256 | single nucleotide variant | NM_004385.5(VCAN):c.615T>A (p.Thr205=) | not provided [RCV005067612] | likely benign | 5 | 83493715 | 83493715 | Human | | name |
| 597967263 | CV3794458 | single nucleotide variant | NM_004385.5(VCAN):c.954T>C (p.Gly318=) | not provided [RCV005140634] | likely benign | 5 | 83512308 | 83512308 | Human | | name |
| 597835178 | CV3828133 | single nucleotide variant | NM_004385.5(VCAN):c.742C>T (p.Leu248=) | not provided [RCV005171025] | likely benign | 5 | 83493925 | 83493925 | Human | | name |
| 597974813 | CV3831857 | single nucleotide variant | NM_004385.5(VCAN):c.49G>A (p.Val17Ile) | not provided [RCV005168796] | uncertain significance | 5 | 83483567 | 83483567 | Human | | name |
| 597953530 | CV3844008 | single nucleotide variant | NM_004385.5(VCAN):c.567T>C (p.Tyr189=) | not provided [RCV005190870] | likely benign | 5 | 83493667 | 83493667 | Human | | name |
| 598205663 | CV3929475 | single nucleotide variant | NM_004385.5(VCAN):c.56A>C (p.His19Pro) | Inborn genetic diseases [RCV005290885] | uncertain significance | 5 | 83483574 | 83483574 | Human | 1 | name |
| 15165833 | CV749636 | single nucleotide variant | NM_004385.5(VCAN):c.855G>A (p.Ala285=) | not provided [RCV000926723] | likely benign | 5 | 83512209 | 83512209 | Human | | name |
| 28897362 | CV894777 | single nucleotide variant | NM_004385.5(VCAN):c.375G>A (p.Ala125=) | Vitreoretinopathy [RCV001156665]|Wagner syndrome [RCV001155006]|not provided [RCV001449418] | likely benign|uncertain significance | 5 | 83490402 | 83490402 | Human | 2 | name |
| 28886619 | CV894778 | single nucleotide variant | NM_004385.5(VCAN):c.630C>T (p.Ile210=) | Vitreoretinopathy [RCV001151206]|Wagner syndrome [RCV001151207]|not provided [RCV001515589] | benign | 5 | 83493813 | 83493813 | Human | 2 | name |
| 28895455 | CV894779 | single nucleotide variant | NM_004385.5(VCAN):c.909C>T (p.Ser303=) | Vitreoretinopathy [RCV001154278]|Wagner syndrome [RCV001154279]|not provided [RCV002557316] | benign|likely benign | 5 | 83512263 | 83512263 | Human | 2 | name |
| 38496800 | CV944722 | single nucleotide variant | NM_004385.5(VCAN):c.92C>T (p.Pro31Leu) | Inborn genetic diseases [RCV002563096]|not provided [RCV001226634] | uncertain significance | 5 | 83490119 | 83490119 | Human | 1 | name |
| 38495618 | CV944725 | single nucleotide variant | NM_004385.5(VCAN):c.333C>T (p.Gly111=) | not provided [RCV001225834] | likely benign|uncertain significance | 5 | 83490360 | 83490360 | Human | | name |
| 126743903 | CV1006249 | single nucleotide variant | NM_004385.5(VCAN):c.261A>C (p.Gln87His) | not provided [RCV001314866] | uncertain significance | 5 | 83490288 | 83490288 | Human | | name |
| 126734567 | CV1026777 | single nucleotide variant | NM_004385.5(VCAN):c.215A>G (p.Asp72Gly) | not provided [RCV001349960] | uncertain significance | 5 | 83490242 | 83490242 | Human | | name |
| 126914299 | CV1043737 | single nucleotide variant | NM_004385.5(VCAN):c.133C>T (p.His45Tyr) | Inborn genetic diseases [RCV003169905]|not provided [RCV001370423] | uncertain significance | 5 | 83490160 | 83490160 | Human | 1 | name |
| 126912288 | CV1043738 | single nucleotide variant | NM_004385.5(VCAN):c.143C>T (p.Thr48Met) | not provided [RCV001369660] | uncertain significance | 5 | 83490170 | 83490170 | Human | | name |
| 127233317 | CV1073012 | single nucleotide variant | NM_004385.5(VCAN):c.1062C>T (p.Ile354=) | not provided [RCV001396072] | likely benign | 5 | 83519368 | 83519368 | Human | | name |
| 127256473 | CV1073013 | single nucleotide variant | NM_004385.5(VCAN):c.1938A>C (p.Pro646=) | not provided [RCV001419057] | likely benign | 5 | 83520244 | 83520244 | Human | | name |
| 127276300 | CV1073014 | single nucleotide variant | NM_004385.5(VCAN):c.2481C>A (p.Pro827=) | not provided [RCV001407118] | likely benign | 5 | 83520787 | 83520787 | Human | | name |
| 127276588 | CV1073015 | single nucleotide variant | NM_004385.5(VCAN):c.2481C>T (p.Pro827=) | not provided [RCV001407217] | likely benign | 5 | 83520787 | 83520787 | Human | | name |
| 127281747 | CV1073016 | single nucleotide variant | NM_004385.5(VCAN):c.2505G>A (p.Gly835=) | not provided [RCV001410669] | likely benign | 5 | 83520811 | 83520811 | Human | | name |
| 127254911 | CV1094602 | single nucleotide variant | NM_004385.5(VCAN):c.1125T>C (p.Ser375=) | not provided [RCV001426398] | likely benign | 5 | 83519431 | 83519431 | Human | | name |
| 127266736 | CV1094603 | single nucleotide variant | NM_004385.5(VCAN):c.1293G>A (p.Lys431=) | not provided [RCV001429463] | likely benign | 5 | 83519599 | 83519599 | Human | | name |
| 127275230 | CV1094604 | single nucleotide variant | NM_004385.5(VCAN):c.1431C>T (p.Val477=) | not provided [RCV001443248] | likely benign | 5 | 83519737 | 83519737 | Human | | name |
| 127245961 | CV1094605 | single nucleotide variant | NM_004385.5(VCAN):c.1773C>T (p.His591=) | not provided [RCV001435303] | likely benign | 5 | 83520079 | 83520079 | Human | | name |
| 127279081 | CV1094606 | single nucleotide variant | NM_004385.5(VCAN):c.1800C>T (p.Val600=) | not provided [RCV001445522] | likely benign | 5 | 83520106 | 83520106 | Human | | name |
| 127265240 | CV1094607 | single nucleotide variant | NM_004385.5(VCAN):c.2253A>G (p.Thr751=) | not provided [RCV001429024] | likely benign | 5 | 83520559 | 83520559 | Human | | name |
| 127272184 | CV1094608 | single nucleotide variant | NM_004385.5(VCAN):c.2463A>G (p.Ser821=) | not provided [RCV001431212] | likely benign | 5 | 83520769 | 83520769 | Human | | name |
| 127277119 | CV1094609 | single nucleotide variant | NM_004385.5(VCAN):c.2607T>C (p.Thr869=) | not provided [RCV001444203] | likely benign | 5 | 83520913 | 83520913 | Human | | name |
| 127243684 | CV1094610 | single nucleotide variant | NM_004385.5(VCAN):c.2784A>G (p.Val928=) | VCAN-related disorder [RCV003908617]|not provided [RCV001423997] | likely benign | 5 | 83521090 | 83521090 | Human | 1 | name , alternate_id |
| 127279827 | CV1094611 | single nucleotide variant | NM_004385.5(VCAN):c.2835C>T (p.His945=) | not provided [RCV001446013] | likely benign | 5 | 83521141 | 83521141 | Human | | name |
| 127328200 | CV1116136 | single nucleotide variant | NM_004385.5(VCAN):c.1227A>G (p.Thr409=) | not provided [RCV001469471] | likely benign | 5 | 83519533 | 83519533 | Human | | name |
| 127304184 | CV1116137 | single nucleotide variant | NM_004385.5(VCAN):c.1380C>A (p.Leu460=) | not provided [RCV001454915] | likely benign | 5 | 83519686 | 83519686 | Human | | name |
| 127293025 | CV1116138 | single nucleotide variant | NM_004385.5(VCAN):c.1530C>G (p.Ser510=) | not provided [RCV001459107] | likely benign | 5 | 83519836 | 83519836 | Human | | name |
| 127296437 | CV1116139 | single nucleotide variant | NM_004385.5(VCAN):c.1755T>G (p.Thr585=) | not provided [RCV001452741] | likely benign | 5 | 83520061 | 83520061 | Human | | name |
| 127293744 | CV1116140 | single nucleotide variant | NM_004385.5(VCAN):c.2322A>T (p.Pro774=) | not provided [RCV001459288] | likely benign | 5 | 83520628 | 83520628 | Human | | name |
| 127337775 | CV1116141 | single nucleotide variant | NM_004385.5(VCAN):c.2901A>G (p.Val967=) | not provided [RCV001475850] | likely benign | 5 | 83521207 | 83521207 | Human | | name |
| 127304976 | CV1137102 | single nucleotide variant | NM_004385.5(VCAN):c.1743G>A (p.Thr581=) | not provided [RCV001479677] | likely benign | 5 | 83520049 | 83520049 | Human | | name |
| 127329231 | CV1137103 | single nucleotide variant | NM_004385.5(VCAN):c.2097T>C (p.Tyr699=) | not provided [RCV001487301] | likely benign | 5 | 83520403 | 83520403 | Human | | name |
| 127329451 | CV1137104 | single nucleotide variant | NM_004385.5(VCAN):c.2448G>A (p.Glu816=) | not provided [RCV001487417] | likely benign | 5 | 83520754 | 83520754 | Human | | name |
| 127315721 | CV1155202 | single nucleotide variant | NM_004385.5(VCAN):c.1191C>T (p.Pro397=) | VCAN-related disorder [RCV004746417]|not provided [RCV001520112] | benign|likely benign | 5 | 83519497 | 83519497 | Human | 1 | name , alternate_id |
| 127303503 | CV1155203 | single nucleotide variant | NM_004385.5(VCAN):c.1230C>G (p.Val410=) | not provided [RCV001515498] | benign | 5 | 83519536 | 83519536 | Human | | name |
| 127305759 | CV1155205 | single nucleotide variant | NM_004385.5(VCAN):c.1251T>C (p.Asp417=) | not provided [RCV001516394] | benign | 5 | 83519557 | 83519557 | Human | | name |
| 127308594 | CV1155208 | single nucleotide variant | NM_004385.5(VCAN):c.1413G>A (p.Thr471=) | not provided [RCV001517558] | benign | 5 | 83519719 | 83519719 | Human | | name |
| 127307815 | CV1155210 | single nucleotide variant | NM_004385.5(VCAN):c.2028A>G (p.Leu676=) | VCAN-related disorder [RCV003940937]|not provided [RCV001517265]|not specified [RCV001701184] | benign | 5 | 83520334 | 83520334 | Human | 1 | name , alternate_id |
| 127321969 | CV1155211 | single nucleotide variant | NM_004385.5(VCAN):c.2262A>T (p.Thr754=) | not provided [RCV001523307] | benign | 5 | 83520568 | 83520568 | Human | | name |
| 151857150 | CV1347982 | single nucleotide variant | NM_004385.5(VCAN):c.188G>A (p.Arg63His) | not provided [RCV001979666] | uncertain significance | 5 | 83490215 | 83490215 | Human | | name |
| 151759195 | CV1371802 | single nucleotide variant | NM_004385.5(VCAN):c.2766A>T (p.Gly922=) | not provided [RCV001969979] | likely benign|uncertain significance | 5 | 83521072 | 83521072 | Human | | name |
| 151889526 | CV1398852 | single nucleotide variant | NM_004385.5(VCAN):c.229G>A (p.Asp77Asn) | not provided [RCV001942822] | uncertain significance | 5 | 83490256 | 83490256 | Human | | name |
| 151746474 | CV1462223 | single nucleotide variant | NM_004385.5(VCAN):c.135T>A (p.His45Gln) | not provided [RCV001968697] | uncertain significance | 5 | 83490162 | 83490162 | Human | | name |
| 151862963 | CV1498397 | single nucleotide variant | NM_004385.5(VCAN):c.118G>T (p.Val40Phe) | not provided [RCV001980364] | uncertain significance | 5 | 83490145 | 83490145 | Human | | name |
| 151724287 | CV1500451 | single nucleotide variant | NM_004385.5(VCAN):c.2577T>C (p.Asp859=) | not provided [RCV001910141] | likely benign|uncertain significance | 5 | 83520883 | 83520883 | Human | | name |
| 151846931 | CV1507803 | single nucleotide variant | NM_004385.5(VCAN):c.1434G>A (p.Val478=) | not provided [RCV001978408] | likely benign|uncertain significance | 5 | 83519740 | 83519740 | Human | | name |
| 152046816 | CV1519675 | single nucleotide variant | NM_004385.5(VCAN):c.2706T>C (p.Thr902=) | not provided [RCV002145178] | likely benign | 5 | 83521012 | 83521012 | Human | | name |
| 152175700 | CV1527089 | single nucleotide variant | NM_004385.5(VCAN):c.1344A>G (p.Gly448=) | not provided [RCV002163836] | likely benign | 5 | 83519650 | 83519650 | Human | | name |
| 152067227 | CV1534600 | single nucleotide variant | NM_004385.5(VCAN):c.2943A>G (p.Thr981=) | not provided [RCV002110951] | likely benign | 5 | 83521249 | 83521249 | Human | | name |
| 152080592 | CV1546555 | single nucleotide variant | NM_004385.5(VCAN):c.1716C>A (p.Ile572=) | not provided [RCV002130769] | likely benign | 5 | 83520022 | 83520022 | Human | | name |
| 152040437 | CV1553260 | single nucleotide variant | NM_004385.5(VCAN):c.1005T>C (p.Pro335=) | not provided [RCV002087881] | likely benign | 5 | 83512359 | 83512359 | Human | | name |
| 152039217 | CV1555246 | single nucleotide variant | NM_004385.5(VCAN):c.1998G>A (p.Glu666=) | not provided [RCV002107485] | likely benign | 5 | 83520304 | 83520304 | Human | | name |
| 152117660 | CV1556299 | single nucleotide variant | NM_004385.5(VCAN):c.1668T>C (p.Asp556=) | not provided [RCV002216354] | likely benign | 5 | 83519974 | 83519974 | Human | | name |
| 152057008 | CV1567212 | single nucleotide variant | NM_004385.5(VCAN):c.1332A>G (p.Ser444=) | not provided [RCV002146353] | likely benign | 5 | 83519638 | 83519638 | Human | | name |
| 152084030 | CV1569619 | single nucleotide variant | NM_004385.5(VCAN):c.1077C>T (p.Leu359=) | not provided [RCV002113145] | likely benign | 5 | 83519383 | 83519383 | Human | | name |
| 152102977 | CV1571785 | single nucleotide variant | NM_004385.5(VCAN):c.2817T>C (p.Thr939=) | not provided [RCV002173344] | likely benign | 5 | 83521123 | 83521123 | Human | | name |
| 152053806 | CV1595984 | single nucleotide variant | NM_004385.5(VCAN):c.1641C>T (p.His547=) | not provided [RCV002072696] | likely benign | 5 | 83519947 | 83519947 | Human | | name |
| 152121554 | CV1613215 | single nucleotide variant | NM_004385.5(VCAN):c.2844G>A (p.Glu948=) | not provided [RCV002154328] | likely benign | 5 | 83521150 | 83521150 | Human | | name |
| 152148697 | CV1616592 | single nucleotide variant | NM_004385.5(VCAN):c.1782A>G (p.Leu594=) | not provided [RCV002201630] | likely benign | 5 | 83520088 | 83520088 | Human | | name |
| 152132765 | CV1621466 | single nucleotide variant | NM_004385.5(VCAN):c.2319T>C (p.Thr773=) | not provided [RCV002218300] | likely benign | 5 | 83520625 | 83520625 | Human | | name |
| 152134711 | CV1634316 | single nucleotide variant | NM_004385.5(VCAN):c.1092A>G (p.Ser364=) | not provided [RCV002218556] | likely benign | 5 | 83519398 | 83519398 | Human | | name |
| 152064673 | CV1652380 | single nucleotide variant | NM_004385.5(VCAN):c.1968T>C (p.Phe656=) | not provided [RCV002090726] | likely benign | 5 | 83520274 | 83520274 | Human | | name |
| 152107113 | CV1657232 | single nucleotide variant | NM_004385.5(VCAN):c.2142A>G (p.Gly714=) | not provided [RCV002214966] | likely benign | 5 | 83520448 | 83520448 | Human | | name |
| 152091262 | CV1662154 | single nucleotide variant | NM_004385.5(VCAN):c.2067A>G (p.Thr689=) | not provided [RCV002132073] | benign | 5 | 83520373 | 83520373 | Human | | name |
| 152174681 | CV1663337 | single nucleotide variant | NM_004385.5(VCAN):c.2817T>G (p.Thr939=) | not provided [RCV002144517] | likely benign | 5 | 83521123 | 83521123 | Human | | name |
| 152050072 | CV1664691 | single nucleotide variant | NM_004385.5(VCAN):c.1395C>T (p.Gly465=) | not provided [RCV002127135] | likely benign | 5 | 83519701 | 83519701 | Human | | name |
| 156380519 | CV1968612 | single nucleotide variant | NM_004385.5(VCAN):c.272T>C (p.Ile91Thr) | Inborn genetic diseases [RCV004065722]|not provided [RCV002603932] | uncertain significance | 5 | 83490299 | 83490299 | Human | 1 | name |
| 156073494 | CV1968992 | single nucleotide variant | NM_004385.5(VCAN):c.2430A>G (p.Thr810=) | not provided [RCV002621316] | likely benign | 5 | 83520736 | 83520736 | Human | | name |
| 156125169 | CV1969375 | single nucleotide variant | NM_004385.5(VCAN):c.2049A>G (p.Arg683=) | not provided [RCV002593280] | likely benign | 5 | 83520355 | 83520355 | Human | | name |
| 155972236 | CV1978511 | single nucleotide variant | NM_004385.5(VCAN):c.118G>A (p.Val40Ile) | not provided [RCV002617234] | uncertain significance | 5 | 83490145 | 83490145 | Human | | name |
| 156350815 | CV1985590 | single nucleotide variant | NM_004385.5(VCAN):c.2217T>C (p.Ser739=) | not provided [RCV002631966] | likely benign | 5 | 83520523 | 83520523 | Human | | name |
| 156104270 | CV2001881 | single nucleotide variant | NM_004385.5(VCAN):c.1863C>T (p.Asp621=) | not provided [RCV002639696] | likely benign | 5 | 83520169 | 83520169 | Human | | name |
| 156391514 | CV2006228 | single nucleotide variant | NM_004385.5(VCAN):c.149C>T (p.Pro50Leu) | not provided [RCV002654428] | uncertain significance | 5 | 83490176 | 83490176 | Human | | name |
| 156057621 | CV2008074 | single nucleotide variant | NM_004385.5(VCAN):c.1371A>G (p.Glu457=) | not provided [RCV002705274] | likely benign | 5 | 83519677 | 83519677 | Human | | name |
| 156226043 | CV2009476 | single nucleotide variant | NM_004385.5(VCAN):c.206T>C (p.Ile69Thr) | not provided [RCV002701186] | uncertain significance | 5 | 83490233 | 83490233 | Human | | name |
| 156176444 | CV2010389 | single nucleotide variant | NM_004385.5(VCAN):c.1116A>G (p.Gln372=) | not provided [RCV002710644] | likely benign | 5 | 83519422 | 83519422 | Human | | name |
| 156021279 | CV2025425 | single nucleotide variant | NM_004385.5(VCAN):c.179A>T (p.Glu60Val) | not provided [RCV002735388] | uncertain significance | 5 | 83490206 | 83490206 | Human | | name |
| 156288093 | CV2050276 | single nucleotide variant | NM_004385.5(VCAN):c.2484T>A (p.Pro828=) | not provided [RCV002807234] | likely benign | 5 | 83520790 | 83520790 | Human | | name |
| 156168263 | CV2056705 | single nucleotide variant | NM_004385.5(VCAN):c.1020A>G (p.Arg340=) | not provided [RCV002801874] | likely benign | 5 | 83512374 | 83512374 | Human | | name |
| 156179892 | CV2062360 | single nucleotide variant | NM_004385.5(VCAN):c.1014T>C (p.Asp338=) | not provided [RCV002828269] | likely benign | 5 | 83512368 | 83512368 | Human | | name |
| 156294938 | CV2073430 | single nucleotide variant | NM_004385.5(VCAN):c.1137A>T (p.Thr379=) | not provided [RCV002833356] | likely benign | 5 | 83519443 | 83519443 | Human | | name |
| 156188436 | CV2086647 | single nucleotide variant | NM_004385.5(VCAN):c.2994T>G (p.Gly998=) | not provided [RCV002852058] | likely benign | 5 | 83521300 | 83521300 | Human | | name |
| 156189739 | CV2086698 | single nucleotide variant | NM_004385.5(VCAN):c.2187T>A (p.Ser729=) | not provided [RCV002852098] | likely benign | 5 | 83520493 | 83520493 | Human | | name |
| 156216646 | CV2107087 | single nucleotide variant | NM_004385.5(VCAN):c.1767C>T (p.Thr589=) | not provided [RCV002918391] | likely benign | 5 | 83520073 | 83520073 | Human | | name |
| 156288684 | CV2115080 | single nucleotide variant | NM_004385.5(VCAN):c.250C>T (p.Leu84Phe) | not provided [RCV002922059] | uncertain significance | 5 | 83490277 | 83490277 | Human | | name |
| 156310101 | CV2119937 | single nucleotide variant | NM_004385.5(VCAN):c.1167T>C (p.Pro389=) | not provided [RCV002962569] | likely benign | 5 | 83519473 | 83519473 | Human | | name |
| 156016743 | CV2121442 | single nucleotide variant | NM_004385.5(VCAN):c.183T>G (p.Phe61Leu) | not provided [RCV002948573] | uncertain significance | 5 | 83490210 | 83490210 | Human | | name |
| 155935210 | CV2125613 | single nucleotide variant | NM_004385.5(VCAN):c.1101A>G (p.Leu367=) | not provided [RCV002970890] | likely benign | 5 | 83519407 | 83519407 | Human | | name |
| 156299812 | CV2169988 | single nucleotide variant | NM_004385.5(VCAN):c.214G>A (p.Asp72Asn) | not provided [RCV003045496] | uncertain significance | 5 | 83490241 | 83490241 | Human | | name |
| 156130002 | CV2182059 | single nucleotide variant | NM_004385.5(VCAN):c.2358G>A (p.Val786=) | not provided [RCV003055803] | likely benign | 5 | 83520664 | 83520664 | Human | | name |
| 156368564 | CV2190508 | single nucleotide variant | NM_004385.5(VCAN):c.2394C>G (p.Ala798=) | not provided [RCV003066120] | likely benign | 5 | 83520700 | 83520700 | Human | | name |
| 156338306 | CV2271253 | single nucleotide variant | NM_004385.5(VCAN):c.127C>T (p.Pro43Ser) | Inborn genetic diseases [RCV002836006]|not provided [RCV005059303] | uncertain significance | 5 | 83490154 | 83490154 | Human | 1 | name |
| 329361026 | CV2463210 | single nucleotide variant | NM_004385.5(VCAN):c.179A>C (p.Glu60Ala) | Inborn genetic diseases [RCV003205307] | uncertain significance | 5 | 83490206 | 83490206 | Human | 1 | name |
| 11641517 | CV269261 | single nucleotide variant | NM_004385.5(VCAN):c.1458G>T (p.Ser486=) | not provided [RCV000358033] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 83519764 | 83519764 | Human | | name |
| 405045928 | CV2859647 | single nucleotide variant | NM_004385.5(VCAN):c.1179A>G (p.Thr393=) | not provided [RCV003579276] | likely benign | 5 | 83519485 | 83519485 | Human | | name |
| 402504333 | CV2880014 | single nucleotide variant | NM_004385.5(VCAN):c.176G>T (p.Ser59Ile) | not provided [RCV003546220] | uncertain significance | 5 | 83490203 | 83490203 | Human | | name |
| 402481135 | CV2910772 | single nucleotide variant | NM_004385.5(VCAN):c.2904C>T (p.Asp968=) | not provided [RCV003571928] | likely benign | 5 | 83521210 | 83521210 | Human | | name |
| 402503087 | CV2937726 | single nucleotide variant | NM_004385.5(VCAN):c.2991A>G (p.Leu997=) | not provided [RCV003661787] | likely benign | 5 | 83521297 | 83521297 | Human | | name |
| 402497004 | CV2942930 | single nucleotide variant | NM_004385.5(VCAN):c.1419A>G (p.Ser473=) | not provided [RCV003661227] | likely benign | 5 | 83519725 | 83519725 | Human | | name |
| 405217094 | CV2972255 | single nucleotide variant | NM_004385.5(VCAN):c.2367C>T (p.Ala789=) | not provided [RCV003680167] | likely benign | 5 | 83520673 | 83520673 | Human | | name |
| 11651445 | CV298243 | single nucleotide variant | NM_004385.5(VCAN):c.2937C>T (p.Pro979=) | Vitreoretinopathy [RCV000298906]|Wagner syndrome [RCV000338753] | uncertain significance | 5 | 83521243 | 83521243 | Human | 2 | name |
| 402518774 | CV3000104 | single nucleotide variant | NM_004385.5(VCAN):c.170A>C (p.Asn57Thr) | not provided [RCV003716272] | uncertain significance | 5 | 83490197 | 83490197 | Human | | name |
| 11586610 | CV300528 | single nucleotide variant | NM_004385.5(VCAN):c.109T>G (p.Ser37Ala) | VCAN-related disorder [RCV003897795]|Vitreoretinopathy [RCV000344353]|Wagner syndrome [RCV000289322]|not provided [RCV002061295] | likely benign|uncertain significance | 5 | 83490136 | 83490136 | Human | 2 | name , alternate_id |
| 11584656 | CV300537 | single nucleotide variant | NM_004385.5(VCAN):c.1794G>A (p.Glu598=) | Vitreoretinopathy [RCV000275414]|Wagner syndrome [RCV000319298] | benign|likely benign | 5 | 83520100 | 83520100 | Human | 2 | name |
| 11589704 | CV300546 | single nucleotide variant | NM_004385.5(VCAN):c.2220T>C (p.Ser740=) | Vitreoretinopathy [RCV000312627]|Wagner syndrome [RCV000367257]|not provided [RCV000903186] | benign|likely benign | 5 | 83520526 | 83520526 | Human | 2 | name |
| 405148018 | CV3024076 | single nucleotide variant | NM_004385.5(VCAN):c.1789T>C (p.Leu597=) | not provided [RCV003703017] | likely benign | 5 | 83520095 | 83520095 | Human | | name |
| 405121587 | CV3024626 | single nucleotide variant | NM_004385.5(VCAN):c.1074C>T (p.Ile358=) | not provided [RCV003700816] | likely benign | 5 | 83519380 | 83519380 | Human | | name |
| 405221955 | CV3038668 | single nucleotide variant | NM_004385.5(VCAN):c.1107A>G (p.Lys369=) | not provided [RCV003710105] | likely benign | 5 | 83519413 | 83519413 | Human | | name |
| 11603683 | CV305071 | single nucleotide variant | NM_004385.5(VCAN):c.2943A>T (p.Thr981=) | Vitreoretinopathy [RCV000402621]|Wagner syndrome [RCV000302580]|not provided [RCV001512016] | benign|likely benign | 5 | 83521249 | 83521249 | Human | 2 | name |
| 405059073 | CV3129384 | single nucleotide variant | NM_004385.5(VCAN):c.2520T>C (p.Asp840=) | not provided [RCV003832653] | likely benign | 5 | 83520826 | 83520826 | Human | | name |
| 405140378 | CV3131155 | single nucleotide variant | NM_004385.5(VCAN):c.2214G>A (p.Glu738=) | not provided [RCV003839195] | likely benign | 5 | 83520520 | 83520520 | Human | | name |
| 405108430 | CV3136668 | deletion | NM_004385.5(VCAN):c.10063+9_10063+25del | not provided [RCV003835822] | uncertain significance | 5 | 83580168 | 83580184 | Human | | name |
| 405154545 | CV3163132 | single nucleotide variant | NM_004385.5(VCAN):c.1236T>C (p.Pro412=) | not provided [RCV003856575] | likely benign | 5 | 83519542 | 83519542 | Human | | name |
| 596941247 | CV3408113 | single nucleotide variant | NM_004385.5(VCAN):c.110C>T (p.Ser37Phe) | Retinal dystrophy [RCV004815784] | uncertain significance | 5 | 83490137 | 83490137 | Human | 2 | name |
| 407529468 | CV3493377 | single nucleotide variant | NM_004385.5(VCAN):c.212T>C (p.Val71Ala) | Inborn genetic diseases [RCV004680921] | uncertain significance | 5 | 83490239 | 83490239 | Human | 1 | name |
| 408393582 | CV3519666 | single nucleotide variant | NM_004385.5(VCAN):c.261A>T (p.Gln87His) | not provided [RCV004763962] | uncertain significance | 5 | 83490288 | 83490288 | Human | | name |
| 597838476 | CV3736906 | single nucleotide variant | NM_004385.5(VCAN):c.2076A>G (p.Pro692=) | not provided [RCV005064386] | likely benign | 5 | 83520382 | 83520382 | Human | | name |
| 597916840 | CV3737439 | single nucleotide variant | NM_004385.5(VCAN):c.1095C>T (p.Pro365=) | not provided [RCV005074228] | likely benign | 5 | 83519401 | 83519401 | Human | | name |
| 597920492 | CV3738086 | single nucleotide variant | NM_004385.5(VCAN):c.1224C>T (p.Ala408=) | not provided [RCV005074685] | likely benign | 5 | 83519530 | 83519530 | Human | | name |
| 597885861 | CV3741727 | single nucleotide variant | NM_004385.5(VCAN):c.2982T>C (p.Asp994=) | not provided [RCV005070446] | likely benign | 5 | 83521288 | 83521288 | Human | | name |
| 597939670 | CV3775371 | single nucleotide variant | NM_004385.5(VCAN):c.1890G>A (p.Arg630=) | not provided [RCV005118197] | likely benign | 5 | 83520196 | 83520196 | Human | | name |
| 597900315 | CV3783004 | single nucleotide variant | NM_004385.5(VCAN):c.2988T>C (p.Val996=) | not provided [RCV005127024] | likely benign | 5 | 83521294 | 83521294 | Human | | name |
| 597931212 | CV3789442 | single nucleotide variant | NM_004385.5(VCAN):c.101G>A (p.Gly34Asp) | not provided [RCV005131723] | uncertain significance | 5 | 83490128 | 83490128 | Human | | name |
| 597957458 | CV3814363 | single nucleotide variant | NM_004385.5(VCAN):c.200C>G (p.Ser67Cys) | not provided [RCV005162694] | uncertain significance | 5 | 83490227 | 83490227 | Human | | name |
| 597963200 | CV3819555 | single nucleotide variant | NM_004385.5(VCAN):c.1425T>C (p.Asp475=) | not provided [RCV005164271] | likely benign | 5 | 83519731 | 83519731 | Human | | name |
| 15158370 | CV710053 | single nucleotide variant | NM_004385.5(VCAN):c.1458G>A (p.Ser486=) | not provided [RCV000969496] | benign | 5 | 83519764 | 83519764 | Human | | name |
| 15187834 | CV735243 | single nucleotide variant | NM_004385.5(VCAN):c.2757C>T (p.Thr919=) | not provided [RCV000909198] | likely benign | 5 | 83521063 | 83521063 | Human | | name |
| 15199640 | CV749637 | single nucleotide variant | NM_004385.5(VCAN):c.1383G>A (p.Gln461=) | not provided [RCV000912609] | likely benign | 5 | 83519689 | 83519689 | Human | | name |
| 15106777 | CV765363 | single nucleotide variant | NM_004385.5(VCAN):c.1281T>C (p.Thr427=) | VCAN-related disorder [RCV003903120]|not provided [RCV000937843] | benign | 5 | 83519587 | 83519587 | Human | 1 | name , alternate_id |
| 8626051 | CV81195 | single nucleotide variant | NM_004385.4(VCAN):c.1530C>T (p.Ser510=) | Malignant melanoma [RCV000061273] | not provided | 5 | 83519836 | 83519836 | Human | | name |
| 26919872 | CV831182 | single nucleotide variant | NM_004385.5(VCAN):c.157C>T (p.Pro53Ser) | Inborn genetic diseases [RCV002553147]|Vitreoretinopathy [RCV001154162]|Wagner syndrome [RCV001154163]|not provided [RCV001046583] | benign|uncertain significance | 5 | 83490184 | 83490184 | Human | 3 | name |
| 26899511 | CV831183 | single nucleotide variant | NM_004385.5(VCAN):c.160C>T (p.Pro54Ser) | Vitreoretinopathy [RCV001154165]|Wagner syndrome [RCV001154164]|not provided [RCV001067230] | benign|uncertain significance | 5 | 83490187 | 83490187 | Human | 2 | name |
| 26884510 | CV831184 | single nucleotide variant | NM_004385.5(VCAN):c.221A>G (p.Asn74Ser) | Vitreoretinopathy [RCV001154167]|Wagner syndrome [RCV001154166]|not provided [RCV001051916] | benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 83490248 | 83490248 | Human | 2 | name |
| 28887048 | CV894786 | single nucleotide variant | NM_004385.5(VCAN):c.1650C>T (p.Phe550=) | VCAN-related disorder [RCV003906267]|Vitreoretinopathy [RCV001154373]|Wagner syndrome [RCV001151334]|not provided [RCV001476292] | benign|likely benign | 5 | 83519956 | 83519956 | Human | 2 | name , alternate_id |
| 28895690 | CV894787 | single nucleotide variant | NM_004385.5(VCAN):c.1896G>A (p.Thr632=) | Vitreoretinopathy [RCV001154375]|Wagner syndrome [RCV001154374]|not provided [RCV001419333] | benign|likely benign | 5 | 83520202 | 83520202 | Human | 2 | name |
| 28887445 | CV894790 | single nucleotide variant | NM_004385.5(VCAN):c.2925T>C (p.Leu975=) | Vitreoretinopathy [RCV001154478]|Wagner syndrome [RCV001151454]|not provided [RCV001523435] | benign | 5 | 83521231 | 83521231 | Human | 2 | name |
| 38487682 | CV944723 | single nucleotide variant | NM_004385.5(VCAN):c.187C>T (p.Arg63Cys) | Inborn genetic diseases [RCV002563899]|not provided [RCV001237706] | uncertain significance | 5 | 83490214 | 83490214 | Human | 1 | name |
| 38489176 | CV944724 | single nucleotide variant | NM_004385.5(VCAN):c.188G>T (p.Arg63Leu) | not provided [RCV001238304] | uncertain significance | 5 | 83490215 | 83490215 | Human | | name |
| 38456436 | CV954240 | single nucleotide variant | NM_004385.5(VCAN):c.256G>T (p.Ala86Ser) | not provided [RCV001245773] | uncertain significance | 5 | 83490283 | 83490283 | Human | | name |
| 126773545 | CV1006250 | single nucleotide variant | NM_004385.5(VCAN):c.403G>A (p.Gly135Arg) | not provided [RCV001324394] | uncertain significance | 5 | 83490430 | 83490430 | Human | | name |
| 126747391 | CV1006251 | single nucleotide variant | NM_004385.5(VCAN):c.728G>T (p.Cys243Phe) | not provided [RCV001315341] | uncertain significance | 5 | 83493911 | 83493911 | Human | | name |
| 126750368 | CV1026779 | single nucleotide variant | NM_004385.5(VCAN):c.386G>A (p.Arg129His) | Inborn genetic diseases [RCV003263999]|not provided [RCV001352233] | uncertain significance | 5 | 83490413 | 83490413 | Human | 1 | name |
| 126736174 | CV1026780 | single nucleotide variant | NM_004385.5(VCAN):c.959T>G (p.Leu320Arg) | Inborn genetic diseases [RCV002547500]|not provided [RCV001350190] | uncertain significance | 5 | 83512313 | 83512313 | Human | 1 | name |
| 126769204 | CV1026817 | single nucleotide variant | NM_004385.5(VCAN):c.9657G>A (p.Val3219=) | not provided [RCV001343796] | likely benign|uncertain significance | 5 | 83554960 | 83554960 | Human | | name |
| 126919301 | CV1043739 | single nucleotide variant | NM_004385.5(VCAN):c.308T>C (p.Val103Ala) | not provided [RCV001362214] | uncertain significance | 5 | 83490335 | 83490335 | Human | | name |
| 126916107 | CV1043740 | single nucleotide variant | NM_004385.5(VCAN):c.425C>T (p.Thr142Met) | Inborn genetic diseases [RCV002548652]|not provided [RCV001371308] | uncertain significance | 5 | 83490452 | 83490452 | Human | 1 | name |
| 126923964 | CV1043741 | single nucleotide variant | NM_004385.5(VCAN):c.634G>A (p.Ala212Thr) | not provided [RCV001366464] | uncertain significance | 5 | 83493817 | 83493817 | Human | | name |
| 126922164 | CV1043742 | single nucleotide variant | NM_004385.5(VCAN):c.983T>C (p.Phe328Ser) | not provided [RCV001364345] | uncertain significance | 5 | 83512337 | 83512337 | Human | | name |
| 126918874 | CV1043766 | single nucleotide variant | NM_004385.5(VCAN):c.6654T>A (p.Ala2218=) | not provided [RCV001361979] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 83539657 | 83539657 | Human | | name |
| 127244727 | CV1073018 | single nucleotide variant | NM_004385.5(VCAN):c.3075A>G (p.Lys1025=) | not provided [RCV001416384] | likely benign | 5 | 83521381 | 83521381 | Human | | name |
| 127250909 | CV1073019 | single nucleotide variant | NM_004385.5(VCAN):c.3204C>G (p.Gly1068=) | not provided [RCV001399970] | likely benign | 5 | 83521510 | 83521510 | Human | | name |
| 127265323 | CV1073020 | single nucleotide variant | NM_004385.5(VCAN):c.3381G>A (p.Gly1127=) | not provided [RCV001403543] | likely benign | 5 | 83521687 | 83521687 | Human | | name |
| 127263781 | CV1073023 | single nucleotide variant | NM_004385.5(VCAN):c.4314A>G (p.Ala1438=) | not provided [RCV001403086] | likely benign | 5 | 83537317 | 83537317 | Human | | name |
| 127249429 | CV1073024 | single nucleotide variant | NM_004385.5(VCAN):c.5490T>C (p.Ser1830=) | not provided [RCV001417319] | likely benign | 5 | 83538493 | 83538493 | Human | | name |
| 127231910 | CV1073025 | single nucleotide variant | NM_004385.5(VCAN):c.5616G>A (p.Pro1872=) | not provided [RCV001413251] | likely benign | 5 | 83538619 | 83538619 | Human | | name |
| 127243178 | CV1073026 | single nucleotide variant | NM_004385.5(VCAN):c.5859G>A (p.Thr1953=) | VCAN-related disorder [RCV003963254]|not provided [RCV001393458] | likely benign | 5 | 83538862 | 83538862 | Human | 1 | name , alternate_id |
| 127232662 | CV1073027 | single nucleotide variant | NM_004385.5(VCAN):c.6207G>A (p.Thr2069=) | not provided [RCV001395807] | likely benign | 5 | 83539210 | 83539210 | Human | | name |
| 127274750 | CV1073028 | single nucleotide variant | NM_004385.5(VCAN):c.6669A>G (p.Thr2223=) | not provided [RCV001406427] | likely benign | 5 | 83539672 | 83539672 | Human | | name |
| 127249525 | CV1073029 | single nucleotide variant | NM_004385.5(VCAN):c.7227A>G (p.Glu2409=) | not provided [RCV001399616] | likely benign | 5 | 83540230 | 83540230 | Human | | name |
| 127232156 | CV1073030 | single nucleotide variant | NM_004385.5(VCAN):c.7512C>T (p.Ser2504=) | not provided [RCV001413334] | likely benign | 5 | 83540515 | 83540515 | Human | | name |
| 127245385 | CV1073031 | single nucleotide variant | NM_004385.5(VCAN):c.7554T>C (p.Gly2518=) | not provided [RCV001416481] | likely benign | 5 | 83540557 | 83540557 | Human | | name |
| 127250785 | CV1073032 | single nucleotide variant | NM_004385.5(VCAN):c.7716G>A (p.Ser2572=) | not provided [RCV001417652] | likely benign | 5 | 83540719 | 83540719 | Human | | name |
| 127245117 | CV1073033 | single nucleotide variant | NM_004385.5(VCAN):c.8265A>G (p.Lys2755=) | not provided [RCV001393822] | likely benign | 5 | 83541268 | 83541268 | Human | | name |
| 127276445 | CV1073034 | single nucleotide variant | NM_004385.5(VCAN):c.8592T>C (p.Ser2864=) | not provided [RCV001407165] | likely benign | 5 | 83541595 | 83541595 | Human | | name |
| 127233712 | CV1073035 | single nucleotide variant | NM_004385.5(VCAN):c.8649C>T (p.Tyr2883=) | not provided [RCV001414003] | likely benign | 5 | 83541652 | 83541652 | Human | | name |
| 127255420 | CV1073036 | single nucleotide variant | NM_004385.5(VCAN):c.8724G>A (p.Glu2908=) | not provided [RCV001418737] | likely benign | 5 | 83541727 | 83541727 | Human | | name |
| 127256868 | CV1073038 | single nucleotide variant | NM_004385.5(VCAN):c.9405C>T (p.Pro3135=) | not provided [RCV001419133] | likely benign | 5 | 83547996 | 83547996 | Human | | name |
| 127271411 | CV1073039 | single nucleotide variant | NM_004385.5(VCAN):c.9480A>G (p.Ala3160=) | not provided [RCV001405335] | likely benign | 5 | 83548071 | 83548071 | Human | | name |
| 127232360 | CV1073041 | single nucleotide variant | NM_004385.5(VCAN):c.9597G>T (p.Leu3199=) | not provided [RCV001395653] | likely benign | 5 | 83553467 | 83553467 | Human | | name |
| 127273353 | CV1094612 | single nucleotide variant | NM_004385.5(VCAN):c.3225C>G (p.Val1075=) | not provided [RCV001431608] | likely benign | 5 | 83521531 | 83521531 | Human | | name |
| 127268490 | CV1094613 | single nucleotide variant | NM_004385.5(VCAN):c.3405G>A (p.Gly1135=) | VCAN-related disorder [RCV003955961]|not provided [RCV001440800] | likely benign | 5 | 83521711 | 83521711 | Human | 1 | name , alternate_id |
| 127281987 | CV1094614 | single nucleotide variant | NM_004385.5(VCAN):c.3453A>G (p.Thr1151=) | not provided [RCV001447548] | likely benign | 5 | 83521759 | 83521759 | Human | | name |
| 127261654 | CV1094615 | single nucleotide variant | NM_004385.5(VCAN):c.4263C>T (p.Pro1421=) | not provided [RCV001438802] | likely benign | 5 | 83537266 | 83537266 | Human | | name |
| 127249445 | CV1094617 | single nucleotide variant | NM_004385.5(VCAN):c.4746C>T (p.Tyr1582=) | not provided [RCV001436093] | likely benign | 5 | 83537749 | 83537749 | Human | | name |
| 127272947 | CV1094618 | single nucleotide variant | NM_004385.5(VCAN):c.4749T>G (p.Thr1583=) | not provided [RCV001442377] | likely benign | 5 | 83537752 | 83537752 | Human | | name |
| 127247803 | CV1094619 | single nucleotide variant | NM_004385.5(VCAN):c.4950T>C (p.Asp1650=) | not provided [RCV001435694] | likely benign | 5 | 83537953 | 83537953 | Human | | name |
| 127235792 | CV1094620 | single nucleotide variant | NM_004385.5(VCAN):c.5241G>A (p.Ser1747=) | not provided [RCV001433186] | likely benign | 5 | 83538244 | 83538244 | Human | | name |
| 127266270 | CV1094621 | single nucleotide variant | NM_004385.5(VCAN):c.5325C>G (p.Ser1775=) | not provided [RCV001429356] | likely benign | 5 | 83538328 | 83538328 | Human | | name |
| 127275397 | CV1094622 | single nucleotide variant | NM_004385.5(VCAN):c.5547T>G (p.Val1849=) | not provided [RCV001443309] | likely benign | 5 | 83538550 | 83538550 | Human | | name |
| 127280418 | CV1094623 | single nucleotide variant | NM_004385.5(VCAN):c.5823C>T (p.Tyr1941=) | not provided [RCV001446428] | likely benign | 5 | 83538826 | 83538826 | Human | | name |
| 127263222 | CV1094624 | single nucleotide variant | NM_004385.5(VCAN):c.5856A>G (p.Glu1952=) | not provided [RCV001428514] | likely benign | 5 | 83538859 | 83538859 | Human | | name |
| 127246348 | CV1094625 | single nucleotide variant | NM_004385.5(VCAN):c.6133T>C (p.Leu2045=) | not provided [RCV001424501] | likely benign | 5 | 83539136 | 83539136 | Human | | name |
| 127262360 | CV1094626 | single nucleotide variant | NM_004385.5(VCAN):c.6363A>G (p.Gln2121=) | not provided [RCV001428285] | likely benign | 5 | 83539366 | 83539366 | Human | | name |
| 127236660 | CV1094627 | single nucleotide variant | NM_004385.5(VCAN):c.6414A>G (p.Thr2138=) | not provided [RCV001433387] | likely benign | 5 | 83539417 | 83539417 | Human | | name |
| 127239099 | CV1094629 | single nucleotide variant | NM_004385.5(VCAN):c.7431T>C (p.Val2477=) | not provided [RCV001433907] | likely benign | 5 | 83540434 | 83540434 | Human | | name |
| 127270548 | CV1094630 | single nucleotide variant | NM_004385.5(VCAN):c.7713A>G (p.Thr2571=) | not provided [RCV001441492] | likely benign | 5 | 83540716 | 83540716 | Human | | name |
| 127263129 | CV1094631 | single nucleotide variant | NM_004385.5(VCAN):c.7815A>G (p.Pro2605=) | not provided [RCV001439214] | likely benign | 5 | 83540818 | 83540818 | Human | | name |
| 127257645 | CV1094635 | single nucleotide variant | NM_004385.5(VCAN):c.9214C>T (p.Leu3072=) | not provided [RCV001437934] | likely benign | 5 | 83542217 | 83542217 | Human | | name |
| 127280327 | CV1094637 | single nucleotide variant | NM_004385.5(VCAN):c.9360C>T (p.Ser3120=) | not provided [RCV001446381] | likely benign | 5 | 83545631 | 83545631 | Human | | name |
| 127248049 | CV1094638 | single nucleotide variant | NM_004385.5(VCAN):c.9555C>T (p.Ala3185=) | not provided [RCV001435733] | likely benign | 5 | 83553425 | 83553425 | Human | | name |
| 127276469 | CV1094639 | single nucleotide variant | NM_004385.5(VCAN):c.9849C>T (p.Tyr3283=) | not provided [RCV001443819] | likely benign | 5 | 83572529 | 83572529 | Human | | name |
| 127235067 | CV1094640 | single nucleotide variant | NM_004385.5(VCAN):c.9987C>T (p.Phe3329=) | not provided [RCV001422194] | likely benign | 5 | 83580086 | 83580086 | Human | | name |
| 127296449 | CV1116143 | single nucleotide variant | NM_004385.5(VCAN):c.3741C>T (p.Asp1247=) | not provided [RCV001459986] | likely benign | 5 | 83522047 | 83522047 | Human | | name |
| 127326313 | CV1116144 | single nucleotide variant | NM_004385.5(VCAN):c.4512C>T (p.Val1504=) | not provided [RCV001468713] | likely benign | 5 | 83537515 | 83537515 | Human | | name |
| 127297347 | CV1116145 | single nucleotide variant | NM_004385.5(VCAN):c.4800A>C (p.Ala1600=) | not provided [RCV001477584] | likely benign | 5 | 83537803 | 83537803 | Human | | name |
| 127314056 | CV1116146 | single nucleotide variant | NM_004385.5(VCAN):c.5133T>C (p.Thr1711=) | not provided [RCV001457598] | likely benign | 5 | 83538136 | 83538136 | Human | | name |
| 127317799 | CV1116147 | single nucleotide variant | NM_004385.5(VCAN):c.5655G>A (p.Leu1885=) | not provided [RCV001465996] | likely benign | 5 | 83538658 | 83538658 | Human | | name |
| 127331055 | CV1116148 | single nucleotide variant | NM_004385.5(VCAN):c.6411A>G (p.Gln2137=) | not provided [RCV001471302] | likely benign | 5 | 83539414 | 83539414 | Human | | name |
| 127318039 | CV1116149 | single nucleotide variant | NM_004385.5(VCAN):c.6462T>C (p.Asp2154=) | not provided [RCV001466061] | likely benign | 5 | 83539465 | 83539465 | Human | | name |
| 127293078 | CV1116150 | single nucleotide variant | NM_004385.5(VCAN):c.6472C>T (p.Leu2158=) | VCAN-related disorder [RCV003980379]|not provided [RCV001459125] | likely benign | 5 | 83539475 | 83539475 | Human | 1 | name , alternate_id |
| 127335756 | CV1116151 | single nucleotide variant | NM_004385.5(VCAN):c.6492C>T (p.Tyr2164=) | not provided [RCV001474472] | likely benign | 5 | 83539495 | 83539495 | Human | | name |
| 127302301 | CV1116152 | single nucleotide variant | NM_004385.5(VCAN):c.6771A>T (p.Gly2257=) | VCAN-related disorder [RCV003900563]|not provided [RCV001454415] | likely benign | 5 | 83539774 | 83539774 | Human | 1 | name , alternate_id |
| 127310953 | CV1116153 | single nucleotide variant | NM_004385.5(VCAN):c.6807G>A (p.Glu2269=) | not provided [RCV001464031] | likely benign | 5 | 83539810 | 83539810 | Human | | name |
| 127321040 | CV1116154 | single nucleotide variant | NM_004385.5(VCAN):c.6945A>G (p.Val2315=) | not provided [RCV001467126] | likely benign | 5 | 83539948 | 83539948 | Human | | name |
| 127326381 | CV1116155 | single nucleotide variant | NM_004385.5(VCAN):c.7032C>T (p.Pro2344=) | not provided [RCV001468727] | likely benign | 5 | 83540035 | 83540035 | Human | | name |
| 127288430 | CV1116156 | single nucleotide variant | NM_004385.5(VCAN):c.7281A>G (p.Glu2427=) | not provided [RCV001450477] | likely benign | 5 | 83540284 | 83540284 | Human | | name |
| 127327420 | CV1116157 | single nucleotide variant | NM_004385.5(VCAN):c.7540A>C (p.Arg2514=) | not provided [RCV001469076] | likely benign | 5 | 83540543 | 83540543 | Human | | name |
| 127302307 | CV1116158 | single nucleotide variant | NM_004385.5(VCAN):c.7614A>G (p.Lys2538=) | not provided [RCV001454416] | likely benign | 5 | 83540617 | 83540617 | Human | | name |
| 127296891 | CV1116159 | single nucleotide variant | NM_004385.5(VCAN):c.7639C>T (p.Leu2547=) | not provided [RCV001452880] | likely benign | 5 | 83540642 | 83540642 | Human | | name |
| 127328002 | CV1116160 | single nucleotide variant | NM_004385.5(VCAN):c.8022C>A (p.Ile2674=) | not provided [RCV001469390] | likely benign | 5 | 83541025 | 83541025 | Human | | name |
| 127329687 | CV1116164 | single nucleotide variant | NM_004385.5(VCAN):c.8955G>A (p.Gly2985=) | not provided [RCV001470373] | likely benign | 5 | 83541958 | 83541958 | Human | | name |
| 127336759 | CV1116165 | single nucleotide variant | NM_004385.5(VCAN):c.9741C>T (p.Tyr3247=) | not provided [RCV001475203] | likely benign | 5 | 83572421 | 83572421 | Human | | name |
| 127321842 | CV1116166 | single nucleotide variant | NM_004385.5(VCAN):c.9891C>G (p.Gly3297=) | not provided [RCV001467387] | likely benign | 5 | 83579990 | 83579990 | Human | | name |
| 127295665 | CV1137106 | single nucleotide variant | NM_004385.5(VCAN):c.3459T>C (p.Ser1153=) | not provided [RCV001497311] | likely benign | 5 | 83521765 | 83521765 | Human | | name |
| 127289329 | CV1137107 | single nucleotide variant | NM_004385.5(VCAN):c.3460T>C (p.Leu1154=) | not provided [RCV001495593] | likely benign | 5 | 83521766 | 83521766 | Human | | name |
| 127324513 | CV1137108 | single nucleotide variant | NM_004385.5(VCAN):c.4068T>G (p.Pro1356=) | not provided [RCV001485497] | likely benign | 5 | 83537071 | 83537071 | Human | | name |
| 127313926 | CV1137109 | single nucleotide variant | NM_004385.5(VCAN):c.4092G>A (p.Val1364=) | not provided [RCV001482105] | likely benign | 5 | 83537095 | 83537095 | Human | | name |
| 127322528 | CV1137110 | single nucleotide variant | NM_004385.5(VCAN):c.4110A>G (p.Glu1370=) | not provided [RCV001484959] | likely benign | 5 | 83537113 | 83537113 | Human | | name |
| 127305414 | CV1137112 | single nucleotide variant | NM_004385.5(VCAN):c.4629T>C (p.Phe1543=) | not provided [RCV001499905] | likely benign | 5 | 83537632 | 83537632 | Human | | name |
| 127338224 | CV1137113 | single nucleotide variant | NM_004385.5(VCAN):c.5442A>G (p.Gln1814=) | not provided [RCV001493703] | likely benign | 5 | 83538445 | 83538445 | Human | | name |
| 127331128 | CV1137114 | single nucleotide variant | NM_004385.5(VCAN):c.5700C>G (p.Thr1900=) | not provided [RCV001488615] | likely benign | 5 | 83538703 | 83538703 | Human | | name |
| 127319780 | CV1137115 | single nucleotide variant | NM_004385.5(VCAN):c.5913A>T (p.Pro1971=) | not provided [RCV001483980] | likely benign | 5 | 83538916 | 83538916 | Human | | name |
| 127307067 | CV1137116 | single nucleotide variant | NM_004385.5(VCAN):c.5949A>C (p.Ile1983=) | not provided [RCV001500376] | likely benign | 5 | 83538952 | 83538952 | Human | | name |
| 127331329 | CV1137118 | single nucleotide variant | NM_004385.5(VCAN):c.6534T>C (p.Val2178=) | not provided [RCV001488722] | likely benign | 5 | 83539537 | 83539537 | Human | | name |
| 127315968 | CV1137120 | single nucleotide variant | NM_004385.5(VCAN):c.6738G>A (p.Glu2246=) | not provided [RCV001482644] | likely benign | 5 | 83539741 | 83539741 | Human | | name |
| 127286753 | CV1137121 | single nucleotide variant | NM_004385.5(VCAN):c.7179A>G (p.Glu2393=) | not provided [RCV001494545] | likely benign | 5 | 83540182 | 83540182 | Human | | name |
| 127312877 | CV1137123 | single nucleotide variant | NM_004385.5(VCAN):c.8037A>C (p.Thr2679=) | not provided [RCV001502035] | likely benign | 5 | 83541040 | 83541040 | Human | | name |
| 127296066 | CV1137124 | single nucleotide variant | NM_004385.5(VCAN):c.8043A>G (p.Thr2681=) | not provided [RCV001497394] | likely benign | 5 | 83541046 | 83541046 | Human | | name |
| 127324205 | CV1137125 | single nucleotide variant | NM_004385.5(VCAN):c.8094G>A (p.Lys2698=) | not provided [RCV001505620] | likely benign | 5 | 83541097 | 83541097 | Human | | name |
| 127311931 | CV1137126 | single nucleotide variant | NM_004385.5(VCAN):c.9141C>T (p.Asn3047=) | not provided [RCV001481571] | likely benign | 5 | 83542144 | 83542144 | Human | | name |
| 127315964 | CV1137127 | single nucleotide variant | NM_004385.5(VCAN):c.9216G>A (p.Leu3072=) | not provided [RCV001482643] | likely benign | 5 | 83542219 | 83542219 | Human | | name |
| 127336353 | CV1137128 | single nucleotide variant | NM_004385.5(VCAN):c.9300C>T (p.Asn3100=) | not provided [RCV001492096] | likely benign | 5 | 83545571 | 83545571 | Human | | name |
| 127315497 | CV1137129 | single nucleotide variant | NM_004385.5(VCAN):c.9312T>C (p.Cys3104=) | VCAN-related disorder [RCV003921019]|not provided [RCV001482540] | likely benign | 5 | 83545583 | 83545583 | Human | 1 | name , alternate_id |
| 127328185 | CV1137131 | single nucleotide variant | NM_004385.5(VCAN):c.9498C>T (p.Thr3166=) | not provided [RCV001486664] | likely benign | 5 | 83553368 | 83553368 | Human | | name |
| 127336318 | CV1137132 | single nucleotide variant | NM_004385.5(VCAN):c.9888C>T (p.Cys3296=) | not provided [RCV001492077] | likely benign | 5 | 83579987 | 83579987 | Human | | name |
| 127290506 | CV1155214 | single nucleotide variant | NM_004385.5(VCAN):c.3096G>A (p.Gln1032=) | not provided [RCV001509864] | benign | 5 | 83521402 | 83521402 | Human | | name |
| 127303132 | CV1155217 | single nucleotide variant | NM_004385.5(VCAN):c.4599A>T (p.Ala1533=) | not provided [RCV001515356] | benign | 5 | 83537602 | 83537602 | Human | | name |
| 127298417 | CV1155219 | single nucleotide variant | NM_004385.5(VCAN):c.7626T>C (p.Asn2542=) | Wagner syndrome [RCV002488322]|not provided [RCV001513254] | benign|likely benign | 5 | 83540629 | 83540629 | Human | 1 | name |
| 127301923 | CV1155220 | single nucleotide variant | NM_004385.5(VCAN):c.8067G>A (p.Thr2689=) | VCAN-related disorder [RCV003956160]|not provided [RCV001514875] | benign|likely benign | 5 | 83541070 | 83541070 | Human | 1 | name , alternate_id |
| 127319245 | CV1155221 | single nucleotide variant | NM_004385.5(VCAN):c.9366C>T (p.Asp3122=) | not provided [RCV001522044] | benign | 5 | 83545637 | 83545637 | Human | | name |
| 127294631 | CV1155223 | single nucleotide variant | NM_004385.5(VCAN):c.9954C>T (p.Asn3318=) | not provided [RCV001511836] | benign | 5 | 83580053 | 83580053 | Human | | name |
| 151868393 | CV1345512 | single nucleotide variant | NM_004385.5(VCAN):c.520G>T (p.Asp174Tyr) | not provided [RCV001924890] | uncertain significance | 5 | 83493620 | 83493620 | Human | | name |
| 151880931 | CV1384760 | single nucleotide variant | NM_004385.5(VCAN):c.301G>T (p.Val101Leu) | not provided [RCV001982532] | uncertain significance | 5 | 83490328 | 83490328 | Human | | name |
| 151743950 | CV1401483 | single nucleotide variant | NM_004385.5(VCAN):c.979C>T (p.Arg327Cys) | not provided [RCV001947386] | uncertain significance | 5 | 83512333 | 83512333 | Human | | name |
| 151667637 | CV1414451 | single nucleotide variant | NM_004385.5(VCAN):c.524T>C (p.Val175Ala) | not provided [RCV001870632] | uncertain significance | 5 | 83493624 | 83493624 | Human | | name |
| 151837633 | CV1417070 | single nucleotide variant | NM_004385.5(VCAN):c.559G>T (p.Ala187Ser) | not provided [RCV002014965] | uncertain significance | 5 | 83493659 | 83493659 | Human | | name |
| 151807984 | CV1417797 | single nucleotide variant | NM_004385.5(VCAN):c.697C>T (p.Arg233Cys) | not provided [RCV001867731] | uncertain significance | 5 | 83493880 | 83493880 | Human | | name |
| 151749758 | CV1430378 | single nucleotide variant | NM_004385.5(VCAN):c.7059G>A (p.Thr2353=) | not provided [RCV002006742] | likely benign|uncertain significance | 5 | 83540062 | 83540062 | Human | | name |
| 151770349 | CV1460478 | single nucleotide variant | NM_004385.5(VCAN):c.7140A>G (p.Gln2380=) | not provided [RCV001864016] | likely benign|uncertain significance | 5 | 83540143 | 83540143 | Human | | name |
| 151667626 | CV1460804 | single nucleotide variant | NM_004385.5(VCAN):c.751G>A (p.Asp251Asn) | not provided [RCV001888924] | uncertain significance | 5 | 83512105 | 83512105 | Human | | name |
| 151724963 | CV1496720 | single nucleotide variant | NM_004385.5(VCAN):c.6564T>C (p.Asn2188=) | not provided [RCV001910216] | likely benign | 5 | 83539567 | 83539567 | Human | | name |
| 151852856 | CV1502006 | single nucleotide variant | NM_004385.5(VCAN):c.8169C>T (p.Ser2723=) | not provided [RCV001937587] | likely benign|uncertain significance | 5 | 83541172 | 83541172 | Human | | name |
| 151868463 | CV1514426 | single nucleotide variant | NM_004385.5(VCAN):c.421G>A (p.Asp141Asn) | not provided [RCV001998021] | uncertain significance | 5 | 83490448 | 83490448 | Human | | name |
| 152045200 | CV1525685 | single nucleotide variant | NM_004385.5(VCAN):c.4185G>A (p.Glu1395=) | not provided [RCV002126576] | likely benign | 5 | 83537188 | 83537188 | Human | | name |
| 152175656 | CV1527030 | single nucleotide variant | NM_004385.5(VCAN):c.8415A>T (p.Pro2805=) | not provided [RCV002163792] | likely benign | 5 | 83541418 | 83541418 | Human | | name |
| 152058841 | CV1532017 | single nucleotide variant | NM_004385.5(VCAN):c.7617C>T (p.Pro2539=) | not provided [RCV002090018] | likely benign | 5 | 83540620 | 83540620 | Human | | name |
| 152141928 | CV1533033 | single nucleotide variant | NM_004385.5(VCAN):c.9249G>A (p.Thr3083=) | VCAN-related disorder [RCV003941286]|not provided [RCV002156885] | likely benign | 5 | 83542252 | 83542252 | Human | 1 | name , alternate_id |
| 152041873 | CV1537835 | single nucleotide variant | NM_004385.5(VCAN):c.5412A>G (p.Ala1804=) | not provided [RCV002165795] | likely benign | 5 | 83538415 | 83538415 | Human | | name |
| 152059358 | CV1539233 | single nucleotide variant | NM_004385.5(VCAN):c.3888G>A (p.Val1296=) | not provided [RCV002073487] | likely benign | 5 | 83522194 | 83522194 | Human | | name |
| 152112436 | CV1539284 | single nucleotide variant | NM_004385.5(VCAN):c.8607T>C (p.His2869=) | not provided [RCV002080433] | likely benign | 5 | 83541610 | 83541610 | Human | | name |
| 152176278 | CV1541358 | single nucleotide variant | NM_004385.5(VCAN):c.6030C>T (p.Gly2010=) | not provided [RCV002164423] | likely benign | 5 | 83539033 | 83539033 | Human | | name |
| 152158221 | CV1542195 | single nucleotide variant | NM_004385.5(VCAN):c.5757A>C (p.Ala1919=) | not provided [RCV002202977] | likely benign | 5 | 83538760 | 83538760 | Human | | name |
| 152098870 | CV1542493 | single nucleotide variant | NM_004385.5(VCAN):c.5463G>C (p.Leu1821=) | VCAN-related disorder [RCV003958555]|not provided [RCV002195278] | likely benign | 5 | 83538466 | 83538466 | Human | 1 | name , alternate_id |
| 152144663 | CV1543162 | single nucleotide variant | NM_004385.5(VCAN):c.6255A>G (p.Ser2085=) | not provided [RCV002178536] | likely benign | 5 | 83539258 | 83539258 | Human | | name |
| 152145643 | CV1543309 | single nucleotide variant | NM_004385.5(VCAN):c.3216A>G (p.Ala1072=) | not provided [RCV002178683] | likely benign | 5 | 83521522 | 83521522 | Human | | name |
| 152171114 | CV1543962 | single nucleotide variant | NM_004385.5(VCAN):c.3861T>C (p.Ala1287=) | not provided [RCV002161995] | likely benign | 5 | 83522167 | 83522167 | Human | | name |
| 152115051 | CV1552579 | single nucleotide variant | NM_004385.5(VCAN):c.5001A>G (p.Thr1667=) | not provided [RCV002153547] | likely benign | 5 | 83538004 | 83538004 | Human | | name |
| 152133265 | CV1554219 | single nucleotide variant | NM_004385.5(VCAN):c.6225G>A (p.Lys2075=) | not provided [RCV002119356] | likely benign | 5 | 83539228 | 83539228 | Human | | name |
| 152045174 | CV1556071 | single nucleotide variant | NM_004385.5(VCAN):c.6516G>A (p.Glu2172=) | not provided [RCV002206844] | likely benign | 5 | 83539519 | 83539519 | Human | | name |
| 152078568 | CV1557751 | single nucleotide variant | NM_004385.5(VCAN):c.9513T>C (p.Tyr3171=) | not provided [RCV002170247] | likely benign | 5 | 83553383 | 83553383 | Human | | name |
| 152095632 | CV1559533 | single nucleotide variant | NM_004385.5(VCAN):c.5034A>C (p.Thr1678=) | not provided [RCV002213320] | likely benign | 5 | 83538037 | 83538037 | Human | | name |
| 152171297 | CV1562301 | single nucleotide variant | NM_004385.5(VCAN):c.4572G>A (p.Glu1524=) | not provided [RCV002183453] | likely benign | 5 | 83537575 | 83537575 | Human | | name |
| 152171341 | CV1562331 | single nucleotide variant | NM_004385.5(VCAN):c.8643G>A (p.Glu2881=) | not provided [RCV002183466] | likely benign | 5 | 83541646 | 83541646 | Human | | name |
| 152089127 | CV1563044 | single nucleotide variant | NM_004385.5(VCAN):c.8562C>T (p.Val2854=) | not provided [RCV002113826] | likely benign | 5 | 83541565 | 83541565 | Human | | name |
| 152158394 | CV1564406 | single nucleotide variant | NM_004385.5(VCAN):c.4206G>C (p.Val1402=) | not provided [RCV002140502] | likely benign | 5 | 83537209 | 83537209 | Human | | name |
| 152125154 | CV1565509 | single nucleotide variant | NM_004385.5(VCAN):c.6687G>A (p.Lys2229=) | not provided [RCV002136218] | likely benign | 5 | 83539690 | 83539690 | Human | | name |
| 152041375 | CV1568402 | single nucleotide variant | NM_004385.5(VCAN):c.8808C>T (p.Thr2936=) | not provided [RCV002107791] | likely benign | 5 | 83541811 | 83541811 | Human | | name |
| 152069205 | CV1569895 | single nucleotide variant | NM_004385.5(VCAN):c.6174C>G (p.Ser2058=) | not provided [RCV002191551] | likely benign | 5 | 83539177 | 83539177 | Human | | name |
| 152141131 | CV1571434 | single nucleotide variant | NM_004385.5(VCAN):c.8358C>T (p.His2786=) | not provided [RCV002138191] | likely benign | 5 | 83541361 | 83541361 | Human | | name |
| 152141203 | CV1571482 | single nucleotide variant | NM_004385.5(VCAN):c.6942C>T (p.Leu2314=) | not provided [RCV002138201] | likely benign | 5 | 83539945 | 83539945 | Human | | name |
| 152053784 | CV1573349 | single nucleotide variant | NM_004385.5(VCAN):c.5700C>T (p.Thr1900=) | not provided [RCV002207836] | likely benign | 5 | 83538703 | 83538703 | Human | | name |
| 152172387 | CV1575819 | single nucleotide variant | NM_004385.5(VCAN):c.7185A>C (p.Thr2395=) | VCAN-related disorder [RCV003903582]|not provided [RCV002183823] | likely benign | 5 | 83540188 | 83540188 | Human | 1 | name , alternate_id |
| 152119433 | CV1576019 | single nucleotide variant | NM_004385.5(VCAN):c.5520T>C (p.Ala1840=) | not provided [RCV002197845] | likely benign | 5 | 83538523 | 83538523 | Human | | name |
| 152148490 | CV1577027 | single nucleotide variant | NM_004385.5(VCAN):c.6711G>A (p.Pro2237=) | not provided [RCV002179084] | likely benign | 5 | 83539714 | 83539714 | Human | | name |
| 152167342 | CV1577422 | single nucleotide variant | NM_004385.5(VCAN):c.3303T>C (p.Ser1101=) | not provided [RCV002204683] | likely benign | 5 | 83521609 | 83521609 | Human | | name |
| 152100273 | CV1578718 | single nucleotide variant | NM_004385.5(VCAN):c.5586C>T (p.Ala1862=) | not provided [RCV002151727] | likely benign | 5 | 83538589 | 83538589 | Human | | name |
| 152155082 | CV1579591 | single nucleotide variant | NM_004385.5(VCAN):c.4701A>G (p.Glu1567=) | not provided [RCV002158744] | benign | 5 | 83537704 | 83537704 | Human | | name |
| 152130107 | CV1582101 | single nucleotide variant | NM_004385.5(VCAN):c.7038G>T (p.Val2346=) | not provided [RCV002099368] | likely benign | 5 | 83540041 | 83540041 | Human | | name |
| 152065288 | CV1583396 | single nucleotide variant | NM_004385.5(VCAN):c.3819C>T (p.Thr1273=) | not provided [RCV002110699] | likely benign | 5 | 83522125 | 83522125 | Human | | name |
| 152129293 | CV1583876 | single nucleotide variant | NM_004385.5(VCAN):c.3936C>T (p.Pro1312=) | not provided [RCV002199107] | likely benign | 5 | 83522242 | 83522242 | Human | | name |
| 152128654 | CV1584168 | single nucleotide variant | NM_004385.5(VCAN):c.4381T>C (p.Leu1461=) | not provided [RCV002082563] | likely benign | 5 | 83537384 | 83537384 | Human | | name |
| 152025710 | CV1586501 | single nucleotide variant | NM_004385.5(VCAN):c.8316A>C (p.Ala2772=) | not provided [RCV002184911] | likely benign | 5 | 83541319 | 83541319 | Human | | name |
| 152062757 | CV1587631 | single nucleotide variant | NM_004385.5(VCAN):c.5565C>T (p.Asn1855=) | not provided [RCV002090457] | likely benign | 5 | 83538568 | 83538568 | Human | | name |
| 152043962 | CV1588468 | single nucleotide variant | NM_004385.5(VCAN):c.3753T>C (p.Ile1251=) | not provided [RCV002188616] | likely benign | 5 | 83522059 | 83522059 | Human | | name |
| 152164525 | CV1588487 | single nucleotide variant | NM_004385.5(VCAN):c.9534G>A (p.Gly3178=) | not provided [RCV002181554] | likely benign | 5 | 83553404 | 83553404 | Human | | name |
| 152091405 | CV1594293 | single nucleotide variant | NM_004385.5(VCAN):c.3183A>G (p.Thr1061=) | not provided [RCV002171870] | likely benign | 5 | 83521489 | 83521489 | Human | | name |
| 152136038 | CV1595073 | single nucleotide variant | NM_004385.5(VCAN):c.7392C>T (p.Ser2464=) | not provided [RCV002199953] | likely benign | 5 | 83540395 | 83540395 | Human | | name |
| 152091290 | CV1595843 | single nucleotide variant | NM_004385.5(VCAN):c.8097T>C (p.Ser2699=) | not provided [RCV002077747] | likely benign | 5 | 83541100 | 83541100 | Human | | name |
| 152092107 | CV1596053 | single nucleotide variant | NM_004385.5(VCAN):c.3357G>A (p.Val1119=) | not provided [RCV002077850] | likely benign | 5 | 83521663 | 83521663 | Human | | name |
| 152130824 | CV1597854 | single nucleotide variant | NM_004385.5(VCAN):c.3927G>A (p.Thr1309=) | VCAN-related disorder [RCV003941291]|not provided [RCV002176778] | likely benign | 5 | 83522233 | 83522233 | Human | 1 | name , alternate_id |
| 152146578 | CV1600032 | single nucleotide variant | NM_004385.5(VCAN):c.9552T>C (p.Phe3184=) | not provided [RCV002138886] | likely benign | 5 | 83553422 | 83553422 | Human | | name |
| 152160558 | CV1601657 | single nucleotide variant | NM_004385.5(VCAN):c.5103G>T (p.Val1701=) | not provided [RCV002180856] | likely benign | 5 | 83538106 | 83538106 | Human | | name |
| 152066538 | CV1601671 | single nucleotide variant | NM_004385.5(VCAN):c.6783A>G (p.Glu2261=) | not provided [RCV002168735] | likely benign | 5 | 83539786 | 83539786 | Human | | name |
| 152106488 | CV1605153 | single nucleotide variant | NM_004385.5(VCAN):c.4305A>G (p.Glu1435=) | not provided [RCV002196217] | likely benign | 5 | 83537308 | 83537308 | Human | | name |
| 152052609 | CV1607266 | single nucleotide variant | NM_004385.5(VCAN):c.5109C>T (p.Thr1703=) | not provided [RCV002109165] | likely benign | 5 | 83538112 | 83538112 | Human | | name |
| 152081828 | CV1607886 | single nucleotide variant | NM_004385.5(VCAN):c.5982C>G (p.Val1994=) | not provided [RCV002193119] | likely benign | 5 | 83538985 | 83538985 | Human | | name |
| 152162623 | CV1608947 | single nucleotide variant | NM_004385.5(VCAN):c.6192A>G (p.Ala2064=) | not provided [RCV002104087] | likely benign | 5 | 83539195 | 83539195 | Human | | name |
| 152130050 | CV1610475 | single nucleotide variant | NM_004385.5(VCAN):c.5289A>T (p.Thr1763=) | not provided [RCV002136811] | benign | 5 | 83538292 | 83538292 | Human | | name |
| 152164923 | CV1611211 | single nucleotide variant | NM_004385.5(VCAN):c.5211A>T (p.Thr1737=) | not provided [RCV002141621] | likely benign | 5 | 83538214 | 83538214 | Human | | name |
| 152165491 | CV1611362 | single nucleotide variant | NM_004385.5(VCAN):c.3639A>G (p.Ser1213=) | not provided [RCV002141727] | likely benign | 5 | 83521945 | 83521945 | Human | | name |
| 152120315 | CV1612324 | single nucleotide variant | NM_004385.5(VCAN):c.4782T>C (p.Tyr1594=) | not provided [RCV002135626] | likely benign | 5 | 83537785 | 83537785 | Human | | name |
| 152121606 | CV1613221 | single nucleotide variant | NM_004385.5(VCAN):c.8016T>C (p.Thr2672=) | not provided [RCV002154334] | likely benign | 5 | 83541019 | 83541019 | Human | | name |
| 152140143 | CV1613802 | single nucleotide variant | NM_004385.5(VCAN):c.6787T>C (p.Leu2263=) | not provided [RCV002084049] | likely benign | 5 | 83539790 | 83539790 | Human | | name |
| 152092022 | CV1616528 | single nucleotide variant | NM_004385.5(VCAN):c.8310G>A (p.Glu2770=) | not provided [RCV002114204] | likely benign | 5 | 83541313 | 83541313 | Human | | name |
| 152084723 | CV1617111 | single nucleotide variant | NM_004385.5(VCAN):c.7803A>C (p.Val2601=) | not provided [RCV002076833] | likely benign | 5 | 83540806 | 83540806 | Human | | name |
| 152030276 | CV1622113 | single nucleotide variant | NM_004385.5(VCAN):c.3918G>A (p.Ala1306=) | not provided [RCV002186429] | likely benign | 5 | 83522224 | 83522224 | Human | | name |
| 152109168 | CV1623577 | single nucleotide variant | NM_004385.5(VCAN):c.7059G>C (p.Thr2353=) | not provided [RCV002215238] | likely benign | 5 | 83540062 | 83540062 | Human | | name |
| 152104246 | CV1624637 | single nucleotide variant | NM_004385.5(VCAN):c.5523T>A (p.Ala1841=) | not provided [RCV002173499] | likely benign | 5 | 83538526 | 83538526 | Human | | name |
| 152104151 | CV1625745 | single nucleotide variant | NM_004385.5(VCAN):c.9138A>G (p.Val3046=) | not provided [RCV002152171] | likely benign | 5 | 83542141 | 83542141 | Human | | name |
| 152156254 | CV1629697 | single nucleotide variant | NM_004385.5(VCAN):c.4377G>A (p.Thr1459=) | not provided [RCV002202701] | likely benign | 5 | 83537380 | 83537380 | Human | | name |
| 152078907 | CV1632256 | single nucleotide variant | NM_004385.5(VCAN):c.3915G>A (p.Gln1305=) | not provided [RCV002130587] | likely benign | 5 | 83522221 | 83522221 | Human | | name |
| 152033885 | CV1634626 | single nucleotide variant | NM_004385.5(VCAN):c.3540A>G (p.Leu1180=) | Wagner syndrome [RCV003138066]|not provided [RCV002086878] | likely benign|uncertain significance | 5 | 83521846 | 83521846 | Human | 1 | name |
| 152128819 | CV1637371 | single nucleotide variant | NM_004385.5(VCAN):c.8874T>C (p.Thr2958=) | not provided [RCV002217783] | likely benign | 5 | 83541877 | 83541877 | Human | | name |
| 152070595 | CV1638636 | single nucleotide variant | NM_004385.5(VCAN):c.8146C>T (p.Leu2716=) | not provided [RCV002075050] | likely benign | 5 | 83541149 | 83541149 | Human | | name |
| 152123963 | CV1641212 | single nucleotide variant | NM_004385.5(VCAN):c.9549C>T (p.Tyr3183=) | not provided [RCV002098549] | likely benign | 5 | 83553419 | 83553419 | Human | | name |
| 152084896 | CV1645124 | single nucleotide variant | NM_004385.5(VCAN):c.5280T>C (p.Asn1760=) | VCAN-related disorder [RCV003978836]|not provided [RCV002131304] | likely benign | 5 | 83538283 | 83538283 | Human | 1 | name , alternate_id |
| 152133552 | CV1646481 | single nucleotide variant | NM_004385.5(VCAN):c.3681C>T (p.Ser1227=) | not provided [RCV002137245] | likely benign | 5 | 83521987 | 83521987 | Human | | name |
| 152098015 | CV1650271 | single nucleotide variant | NM_004385.5(VCAN):c.4182A>G (p.Glu1394=) | not provided [RCV002114956] | likely benign | 5 | 83537185 | 83537185 | Human | | name |
| 152147165 | CV1656069 | single nucleotide variant | NM_004385.5(VCAN):c.9357C>T (p.Tyr3119=) | not provided [RCV002220227] | likely benign | 5 | 83545628 | 83545628 | Human | | name |
| 152147793 | CV1656241 | single nucleotide variant | NM_004385.5(VCAN):c.8448A>T (p.Thr2816=) | VCAN-related disorder [RCV003968801]|not provided [RCV002220320] | likely benign | 5 | 83541451 | 83541451 | Human | 1 | name , alternate_id |
| 152085378 | CV1663251 | single nucleotide variant | NM_004385.5(VCAN):c.6948T>G (p.Ser2316=) | not provided [RCV002171103] | likely benign | 5 | 83539951 | 83539951 | Human | | name |
| 152062836 | CV1663785 | single nucleotide variant | NM_004385.5(VCAN):c.9687T>C (p.Asn3229=) | not provided [RCV002073885] | likely benign | 5 | 83554990 | 83554990 | Human | | name |
| 152113734 | CV1665469 | single nucleotide variant | NM_004385.5(VCAN):c.9333C>T (p.Tyr3111=) | not provided [RCV002097193] | likely benign | 5 | 83545604 | 83545604 | Human | | name |
| 155663980 | CV1773204 | single nucleotide variant | NM_004385.5(VCAN):c.697C>A (p.Arg233Ser) | not provided [RCV002296916] | uncertain significance | 5 | 83493880 | 83493880 | Human | | name |
| 155688467 | CV1775031 | single nucleotide variant | NM_004385.5(VCAN):c.349G>T (p.Val117Leu) | not provided [RCV002294769] | uncertain significance | 5 | 83490376 | 83490376 | Human | | name |
| 9688823 | CV178144 | single nucleotide variant | NM_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 pathogenicity | 5 | 83538190 | 83538190 | Human | 3 | name |
| 9688823 | CV178144 | single nucleotide variant | NM_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 pathogenicity | 5 | 83538190 | 83538191 | Human | 3 | name |
| 9688825 | CV178145 | single nucleotide variant | NM_004385.5(VCAN):c.5808T>C (p.Gly1936=) | Vitreoretinopathy [RCV000381744]|Wagner syndrome [RCV000286138]|not provided [RCV001509767]|not specified [RCV000154120] | benign | 5 | 83538811 | 83538811 | Human | 2 | name |
| 9693445 | CV178146 | single nucleotide variant | NM_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 significance | 5 | 83538862 | 83538862 | Human | 2 | name , alternate_id |
| 9693446 | CV178147 | single nucleotide variant | NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) | VCAN-related disorder [RCV003952757]|not provided [RCV000154122] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 83540068 | 83540068 | Human | 1 | name , alternate_id |
| 156408722 | CV1911740 | single nucleotide variant | NM_004385.5(VCAN):c.415A>G (p.Thr139Ala) | not provided [RCV002607326] | uncertain significance | 5 | 83490442 | 83490442 | Human | | name |
| 156063014 | CV1931148 | single nucleotide variant | NM_004385.5(VCAN):c.7263A>G (p.Pro2421=) | not provided [RCV002638349] | likely benign | 5 | 83540266 | 83540266 | Human | | name |
| 156439218 | CV1944085 | single nucleotide variant | NM_004385.5(VCAN):c.852G>T (p.Gln284His) | not provided [RCV003109176] | uncertain significance | 5 | 83512206 | 83512206 | Human | | name |
| 10048992 | CV195331 | single nucleotide variant | NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) | Vitreoretinopathy [RCV000270061]|Wagner syndrome [RCV000324965]|not provided [RCV001511566]|not specified [RCV000179438] | benign | 5 | 83512253 | 83512253 | Human | 2 | name |
| 10049171 | CV195957 | single nucleotide variant | NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) | Vitreoretinopathy [RCV000302059]|Wagner syndrome [RCV000338406]|not provided [RCV001509768]|not specified [RCV000180248] | benign | 5 | 83539726 | 83539726 | Human | 2 | name |
| 10049173 | CV195959 | single nucleotide variant | NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) | Vitreoretinopathy [RCV000308635]|Wagner syndrome [RCV000365782]|not provided [RCV000953050]|not specified [RCV000180250] | benign|likely benign | 5 | 83541625 | 83541625 | Human | 2 | name |
| 10049176 | CV195963 | single nucleotide variant | NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) | Vitreoretinopathy [RCV000297799]|Wagner syndrome [RCV000267291]|not provided [RCV001511634]|not specified [RCV000180254] | benign | 5 | 83537326 | 83537326 | Human | 2 | name |
| 10053221 | CV195965 | single nucleotide variant | NM_004385.5(VCAN):c.8859A>C (p.Thr2953=) | not provided [RCV000180256] | uncertain significance | 5 | 83541862 | 83541862 | Human | | name |
| 156390811 | CV1964836 | single nucleotide variant | NM_004385.5(VCAN):c.5394A>G (p.Thr1798=) | not provided [RCV002583852] | likely benign | 5 | 83538397 | 83538397 | Human | | name |
| 156195100 | CV1970970 | single nucleotide variant | NM_004385.5(VCAN):c.5772T>C (p.Phe1924=) | not provided [RCV002625541] | likely benign | 5 | 83538775 | 83538775 | Human | | name |
| 156163373 | CV1971335 | single nucleotide variant | NM_004385.5(VCAN):c.8811T>C (p.Asp2937=) | not provided [RCV002594543] | likely benign | 5 | 83541814 | 83541814 | Human | | name |
| 156416271 | CV1976501 | single nucleotide variant | NM_004385.5(VCAN):c.7971T>C (p.Tyr2657=) | VCAN-related disorder [RCV003896250]|not provided [RCV002589613] | likely benign | 5 | 83540974 | 83540974 | Human | 1 | name , alternate_id |
| 156059609 | CV1978899 | single nucleotide variant | NM_004385.5(VCAN):c.846A>T (p.Glu282Asp) | not provided [RCV002590931] | uncertain significance | 5 | 83512200 | 83512200 | Human | | name |
| 156075795 | CV1979200 | single nucleotide variant | NM_004385.5(VCAN):c.347C>T (p.Thr116Ile) | Inborn genetic diseases [RCV005301162]|not provided [RCV002621385] | uncertain significance | 5 | 83490374 | 83490374 | Human | 1 | name |
| 156076720 | CV1979292 | single nucleotide variant | NM_004385.5(VCAN):c.5193T>C (p.Thr1731=) | not provided [RCV002621412] | likely benign | 5 | 83538196 | 83538196 | Human | | name |
| 156351166 | CV1985616 | single nucleotide variant | NM_004385.5(VCAN):c.4218A>G (p.Pro1406=) | not provided [RCV002631988] | likely benign | 5 | 83537221 | 83537221 | Human | | name |
| 156075872 | CV1985634 | single nucleotide variant | NM_004385.5(VCAN):c.979C>G (p.Arg327Gly) | not provided [RCV002638740] | uncertain significance | 5 | 83512333 | 83512333 | Human | | name |
| 156077967 | CV1985885 | single nucleotide variant | NM_004385.5(VCAN):c.7593C>T (p.Thr2531=) | not provided [RCV002638803] | likely benign | 5 | 83540596 | 83540596 | Human | | name |
| 155996517 | CV1986927 | single nucleotide variant | NM_004385.5(VCAN):c.8220A>G (p.Thr2740=) | not provided [RCV002618255] | likely benign | 5 | 83541223 | 83541223 | Human | | name |
| 156331929 | CV1987257 | single nucleotide variant | NM_004385.5(VCAN):c.6171A>G (p.Arg2057=) | not provided [RCV002630979] | likely benign | 5 | 83539174 | 83539174 | Human | | name |
| 156232277 | CV1991922 | single nucleotide variant | NM_004385.5(VCAN):c.9102A>T (p.Ala3034=) | not provided [RCV002626836] | likely benign | 5 | 83542105 | 83542105 | Human | | name |
| 156114464 | CV1993824 | single nucleotide variant | NM_004385.5(VCAN):c.8844T>C (p.Phe2948=) | not provided [RCV002662616] | likely benign | 5 | 83541847 | 83541847 | Human | | name |
| 156124397 | CV1995218 | single nucleotide variant | NM_004385.5(VCAN):c.4461T>C (p.Pro1487=) | VCAN-related disorder [RCV003936289]|not provided [RCV002662980] | likely benign | 5 | 83537464 | 83537464 | Human | 1 | name , alternate_id |
| 156134569 | CV1998789 | single nucleotide variant | NM_004385.5(VCAN):c.6021A>G (p.Ser2007=) | not provided [RCV002663344] | likely benign | 5 | 83539024 | 83539024 | Human | | name |
| 156290468 | CV2001832 | single nucleotide variant | NM_004385.5(VCAN):c.6198G>A (p.Val2066=) | not provided [RCV002670746] | likely benign | 5 | 83539201 | 83539201 | Human | | name |
| 156202695 | CV2004266 | single nucleotide variant | NM_004385.5(VCAN):c.980G>A (p.Arg327His) | Inborn genetic diseases [RCV004066700]|not provided [RCV002666551] | uncertain significance | 5 | 83512334 | 83512334 | Human | 1 | name |
| 156296986 | CV2005395 | single nucleotide variant | NM_004385.5(VCAN):c.3684G>A (p.Ala1228=) | not provided [RCV002670991] | likely benign | 5 | 83521990 | 83521990 | Human | | name |
| 156358020 | CV2006745 | single nucleotide variant | NM_004385.5(VCAN):c.4521T>C (p.His1507=) | not provided [RCV002676057] | likely benign | 5 | 83537524 | 83537524 | Human | | name |
| 156112600 | CV2008716 | single nucleotide variant | NM_004385.5(VCAN):c.8268T>C (p.His2756=) | not provided [RCV002695729] | likely benign | 5 | 83541271 | 83541271 | Human | | name |
| 156014334 | CV2009047 | single nucleotide variant | NM_004385.5(VCAN):c.6372G>A (p.Lys2124=) | not provided [RCV002690685] | likely benign | 5 | 83539375 | 83539375 | Human | | name |
| 156201450 | CV2010929 | single nucleotide variant | NM_004385.5(VCAN):c.4099C>T (p.Leu1367=) | not provided [RCV002700293] | likely benign | 5 | 83537102 | 83537102 | Human | | name |
| 156084547 | CV2012149 | single nucleotide variant | NM_004385.5(VCAN):c.467C>T (p.Ala156Val) | not provided [RCV002706101] | uncertain significance | 5 | 83493567 | 83493567 | Human | | name |
| 156013113 | CV2013158 | single nucleotide variant | NM_004385.5(VCAN):c.6291A>G (p.Leu2097=) | not provided [RCV002735000] | likely benign | 5 | 83539294 | 83539294 | Human | | name |
| 155911448 | CV2014718 | single nucleotide variant | NM_004385.5(VCAN):c.3042G>A (p.Ala1014=) | not provided [RCV002681750] | likely benign | 5 | 83521348 | 83521348 | Human | | name |
| 156360656 | CV2016621 | single nucleotide variant | NM_004385.5(VCAN):c.8550A>G (p.Pro2850=) | not provided [RCV002720836] | likely benign | 5 | 83541553 | 83541553 | Human | | name |
| 156393455 | CV2019165 | deletion | NM_004385.5(VCAN):c.2406del (p.Lys802fs) | not provided [RCV002725283] | uncertain significance | 5 | 83520709 | 83520709 | Human | | name |
| 155922474 | CV2023964 | single nucleotide variant | NM_004385.5(VCAN):c.643G>A (p.Val215Ile) | not provided [RCV002750780] | uncertain significance | 5 | 83493826 | 83493826 | Human | | name |
| 156375558 | CV2024668 | single nucleotide variant | NM_004385.5(VCAN):c.8895A>G (p.Glu2965=) | not provided [RCV002721891] | likely benign | 5 | 83541898 | 83541898 | Human | | name |
| 155920302 | CV2027369 | single nucleotide variant | NM_004385.5(VCAN):c.7668G>A (p.Leu2556=) | not provided [RCV002750685] | likely benign | 5 | 83540671 | 83540671 | Human | | name |
| 156072979 | CV2029030 | single nucleotide variant | NM_004385.5(VCAN):c.8250G>A (p.Glu2750=) | not provided [RCV002760378] | likely benign | 5 | 83541253 | 83541253 | Human | | name |
| 155983886 | CV2030289 | single nucleotide variant | NM_004385.5(VCAN):c.4935A>G (p.Ala1645=) | not provided [RCV002755449] | likely benign | 5 | 83537938 | 83537938 | Human | | name |
| 156119018 | CV2039260 | single nucleotide variant | NM_004385.5(VCAN):c.4641T>G (p.Ser1547=) | not provided [RCV002800149] | likely benign | 5 | 83537644 | 83537644 | Human | | name |
| 156157878 | CV2049387 | single nucleotide variant | NM_004385.5(VCAN):c.8445A>G (p.Ser2815=) | not provided [RCV002801519] | likely benign | 5 | 83541448 | 83541448 | Human | | name |
| 156277875 | CV2053687 | single nucleotide variant | NM_004385.5(VCAN):c.3618T>C (p.Asp1206=) | not provided [RCV002806889] | likely benign | 5 | 83521924 | 83521924 | Human | | name |
| 155941594 | CV2055018 | single nucleotide variant | NM_004385.5(VCAN):c.696C>A (p.Phe232Leu) | not provided [RCV002815731] | uncertain significance | 5 | 83493879 | 83493879 | Human | | name |
| 156000377 | CV2057398 | single nucleotide variant | NM_004385.5(VCAN):c.5172A>G (p.Lys1724=) | not provided [RCV002819621] | likely benign | 5 | 83538175 | 83538175 | Human | | name |
| 156116567 | CV2058505 | single nucleotide variant | NM_004385.5(VCAN):c.7248A>G (p.Thr2416=) | not provided [RCV002825129] | likely benign | 5 | 83540251 | 83540251 | Human | | name |
| 156033798 | CV2059284 | single nucleotide variant | NM_004385.5(VCAN):c.670A>G (p.Lys224Glu) | not provided [RCV002796165] | uncertain significance | 5 | 83493853 | 83493853 | Human | | name |
| 156107171 | CV2061898 | single nucleotide variant | NM_004385.5(VCAN):c.5070T>C (p.Tyr1690=) | not provided [RCV002824775] | likely benign | 5 | 83538073 | 83538073 | Human | | name |
| 155916646 | CV2063194 | single nucleotide variant | NM_004385.5(VCAN):c.8415A>G (p.Pro2805=) | not provided [RCV002838098] | likely benign | 5 | 83541418 | 83541418 | Human | | name |
| 156228979 | CV2064525 | single nucleotide variant | NM_004385.5(VCAN):c.4509A>G (p.Thr1503=) | not provided [RCV002829975] | likely benign | 5 | 83537512 | 83537512 | Human | | name |
| 156288054 | CV2068638 | single nucleotide variant | NM_004385.5(VCAN):c.5733A>G (p.Arg1911=) | not provided [RCV002856634] | likely benign | 5 | 83538736 | 83538736 | Human | | name |
| 156163773 | CV2070819 | single nucleotide variant | NM_004385.5(VCAN):c.9477T>C (p.Gly3159=) | not provided [RCV002851310] | likely benign | 5 | 83548068 | 83548068 | Human | | name |
| 156127190 | CV2072799 | single nucleotide variant | NM_004385.5(VCAN):c.3903C>A (p.Ala1301=) | not provided [RCV002825531] | likely benign | 5 | 83522209 | 83522209 | Human | | name |
| 156278131 | CV2074440 | single nucleotide variant | NM_004385.5(VCAN):c.877C>A (p.Gln293Lys) | not provided [RCV002856286] | uncertain significance | 5 | 83512231 | 83512231 | Human | | name |
| 155969290 | CV2077105 | single nucleotide variant | NM_004385.5(VCAN):c.8076C>T (p.Ser2692=) | not provided [RCV002863236] | likely benign | 5 | 83541079 | 83541079 | Human | | name |
| 155913050 | CV2081426 | single nucleotide variant | NM_004385.5(VCAN):c.4770T>A (p.Ser1590=) | not provided [RCV002858627] | likely benign | 5 | 83537773 | 83537773 | Human | | name |
| 156021437 | CV2082773 | single nucleotide variant | NM_004385.5(VCAN):c.6306A>G (p.Glu2102=) | not provided [RCV002884978] | likely benign | 5 | 83539309 | 83539309 | Human | | name |
| 156132645 | CV2085014 | single nucleotide variant | NM_004385.5(VCAN):c.3213A>G (p.Ser1071=) | not provided [RCV002871693] | likely benign | 5 | 83521519 | 83521519 | Human | | name |
| 156213259 | CV2087325 | single nucleotide variant | NM_004385.5(VCAN):c.7584G>A (p.Glu2528=) | not provided [RCV002852910] | likely benign | 5 | 83540587 | 83540587 | Human | | name |
| 156237443 | CV2090262 | single nucleotide variant | NM_004385.5(VCAN):c.6753C>T (p.Leu2251=) | not provided [RCV002894789] | likely benign | 5 | 83539756 | 83539756 | Human | | name |
| 156063634 | CV2096372 | single nucleotide variant | NM_004385.5(VCAN):c.7329C>T (p.His2443=) | not provided [RCV002886589] | benign | 5 | 83540332 | 83540332 | Human | | name |
| 156151299 | CV2100310 | single nucleotide variant | NM_004385.5(VCAN):c.8919G>A (p.Gln2973=) | not provided [RCV002872328] | likely benign | 5 | 83541922 | 83541922 | Human | | name |
| 156129054 | CV2104373 | single nucleotide variant | NM_004385.5(VCAN):c.6774A>G (p.Ser2258=) | not provided [RCV002914482] | likely benign | 5 | 83539777 | 83539777 | Human | | name |
| 156145559 | CV2109651 | single nucleotide variant | NM_004385.5(VCAN):c.4503C>T (p.Phe1501=) | not provided [RCV002915069] | likely benign | 5 | 83537506 | 83537506 | Human | | name |
| 156229223 | CV2111801 | deletion | NM_004385.5(VCAN):c.2032del (p.Thr678fs) | not provided [RCV002918868] | uncertain significance | 5 | 83520336 | 83520336 | Human | | name |
| 156380066 | CV2117909 | single nucleotide variant | NM_004385.5(VCAN):c.8559C>T (p.Asp2853=) | not provided [RCV002943072] | likely benign | 5 | 83541562 | 83541562 | Human | | name |
| 156118615 | CV2128413 | single nucleotide variant | NM_004385.5(VCAN):c.4905G>A (p.Ser1635=) | not provided [RCV002953410] | likely benign | 5 | 83537908 | 83537908 | Human | | name |
| 156355736 | CV2129891 | single nucleotide variant | NM_004385.5(VCAN):c.5847A>G (p.Ala1949=) | not provided [RCV002966643] | likely benign | 5 | 83538850 | 83538850 | Human | | name |
| 156271067 | CV2135327 | single nucleotide variant | NM_004385.5(VCAN):c.9468T>C (p.Ser3156=) | not provided [RCV002988824] | likely benign | 5 | 83548059 | 83548059 | Human | | name |
| 156318585 | CV2137894 | single nucleotide variant | NM_004385.5(VCAN):c.536T>C (p.Ile179Thr) | not provided [RCV002963049] | uncertain significance | 5 | 83493636 | 83493636 | Human | | name |
| 155910919 | CV2141608 | single nucleotide variant | NM_004385.5(VCAN):c.6663A>G (p.Val2221=) | not provided [RCV002968044] | likely benign | 5 | 83539666 | 83539666 | Human | | name |
| 156201471 | CV2150012 | single nucleotide variant | NM_004385.5(VCAN):c.5664T>C (p.Ser1888=) | not provided [RCV003006339] | likely benign | 5 | 83538667 | 83538667 | Human | | name |
| 156155415 | CV2150769 | single nucleotide variant | NM_004385.5(VCAN):c.3858T>A (p.Pro1286=) | not provided [RCV003023000] | likely benign | 5 | 83522164 | 83522164 | Human | | name |
| 156095431 | CV2152092 | single nucleotide variant | NM_004385.5(VCAN):c.4875A>G (p.Arg1625=) | not provided [RCV003020845] | likely benign | 5 | 83537878 | 83537878 | Human | | name |
| 156049058 | CV2154198 | single nucleotide variant | NM_004385.5(VCAN):c.3238T>C (p.Leu1080=) | not provided [RCV003019333] | likely benign | 5 | 83521544 | 83521544 | Human | | name |
| 155943558 | CV2154500 | single nucleotide variant | NM_004385.5(VCAN):c.353T>C (p.Val118Ala) | not provided [RCV003014426] | uncertain significance | 5 | 83490380 | 83490380 | Human | | name |
| 156238741 | CV2156029 | single nucleotide variant | NM_004385.5(VCAN):c.698G>A (p.Arg233His) | not provided [RCV003008021] | uncertain significance | 5 | 83493881 | 83493881 | Human | | name |
| 156028997 | CV2156267 | single nucleotide variant | NM_004385.5(VCAN):c.5461C>T (p.Leu1821=) | not provided [RCV003018591] | likely benign | 5 | 83538464 | 83538464 | Human | | name |
| 156142074 | CV2163802 | single nucleotide variant | NM_004385.5(VCAN):c.8394G>C (p.Val2798=) | not provided [RCV003022557] | likely benign | 5 | 83541397 | 83541397 | Human | | name |
| 156278044 | CV2164526 | single nucleotide variant | NM_004385.5(VCAN):c.9747T>C (p.Asn3249=) | not provided [RCV003027220] | likely benign | 5 | 83572427 | 83572427 | Human | | name |
| 156120410 | CV2174869 | single nucleotide variant | NM_004385.5(VCAN):c.3786C>T (p.Thr1262=) | not provided [RCV003055443] | likely benign | 5 | 83522092 | 83522092 | Human | | name |
| 156365043 | CV2176883 | single nucleotide variant | NM_004385.5(VCAN):c.7242T>C (p.Phe2414=) | not provided [RCV003049287] | likely benign | 5 | 83540245 | 83540245 | Human | | name |
| 156109117 | CV2177226 | single nucleotide variant | NM_004385.5(VCAN):c.9489G>A (p.Glu3163=) | not provided [RCV003055020] | likely benign | 5 | 83548080 | 83548080 | Human | | name |
| 156337050 | CV2178244 | single nucleotide variant | NM_004385.5(VCAN):c.631C>T (p.Arg211Trp) | not provided [RCV003047534] | uncertain significance | 5 | 83493814 | 83493814 | Human | | name |
| 156088280 | CV2180767 | single nucleotide variant | NM_004385.5(VCAN):c.541A>G (p.Thr181Ala) | not provided [RCV003054267] | uncertain significance | 5 | 83493641 | 83493641 | Human | | name |
| 156169577 | CV2317091 | single nucleotide variant | NM_004385.5(VCAN):c.707A>G (p.Gln236Arg) | Inborn genetic diseases [RCV002929764] | uncertain significance | 5 | 83493890 | 83493890 | Human | 1 | name |
| 156434898 | CV2403181 | single nucleotide variant | NM_004385.5(VCAN):c.370G>C (p.Asp124His) | not provided [RCV003127137] | uncertain significance | 5 | 83490397 | 83490397 | Human | | name |
| 11547178 | CV252022 | single nucleotide variant | NM_004385.5(VCAN):c.574G>A (p.Gly192Arg) | Vitreoretinopathy [RCV000327572]|Wagner syndrome [RCV000288000]|not provided [RCV000883917]|not specified [RCV000247425] | benign|likely benign | 5 | 83493674 | 83493674 | Human | 2 | name |
| 11551402 | CV252026 | single nucleotide variant | NM_004385.5(VCAN):c.4422T>C (p.Thr1474=) | Vitreoretinopathy [RCV001157098]|Wagner syndrome [RCV001155418]|not provided [RCV000953049]|not specified [RCV000253002] | benign | 5 | 83537425 | 83537425 | Human | 2 | name |
| 11549109 | CV252027 | single nucleotide variant | NM_004385.5(VCAN):c.4569A>G (p.Thr1523=) | Vitreoretinopathy [RCV000388690]|Wagner syndrome [RCV000296712]|not provided [RCV001518279]|not specified [RCV000249983] | benign | 5 | 83537572 | 83537572 | Human | 2 | name |
| 11547422 | CV252031 | single nucleotide variant | NM_004385.5(VCAN):c.6123C>T (p.Ile2041=) | Vitreoretinopathy [RCV000353774]|Wagner syndrome [RCV000263690]|not provided [RCV000883179]|not specified [RCV000247738] | benign | 5 | 83539126 | 83539126 | Human | 2 | name |
| 11551147 | CV252032 | single nucleotide variant | NM_004385.5(VCAN):c.6237G>A (p.Lys2079=) | Vitreoretinopathy [RCV000385578]|Wagner syndrome [RCV000296032]|not provided [RCV000883180]|not specified [RCV000252669] | benign|likely benign | 5 | 83539240 | 83539240 | Human | 2 | name |
| 11548051 | CV252034 | single nucleotide variant | NM_004385.5(VCAN):c.9075G>A (p.Thr3025=) | Vitreoretinopathy [RCV000395619]|Wagner syndrome [RCV000289109]|not provided [RCV001521479]|not specified [RCV000248577] | benign | 5 | 83542078 | 83542078 | Human | 2 | name |
| 11545759 | CV252035 | single nucleotide variant | NM_004385.5(VCAN):c.9234G>A (p.Glu3078=) | Vitreoretinopathy [RCV000314884]|Wagner syndrome [RCV000352970]|not provided [RCV000883146]|not specified [RCV000245573] | benign|likely benign | 5 | 83542237 | 83542237 | Human | 2 | name |
| 11543468 | CV252037 | single nucleotide variant | NM_004385.5(VCAN):c.9630C>T (p.His3210=) | Vitreoretinopathy [RCV000400708]|Wagner syndrome [RCV000301243]|not provided [RCV001515549]|not specified [RCV000242499] | benign | 5 | 83553500 | 83553500 | Human | 2 | name |
| 11545997 | CV252038 | single nucleotide variant | NM_004385.5(VCAN):c.9882C>T (p.Val3294=) | Vitreoretinopathy [RCV000269869]|Wagner syndrome [RCV000308582]|not provided [RCV001515550]|not specified [RCV000245890] | benign | 5 | 83579981 | 83579981 | Human | 2 | name |
| 401898324 | CV2787627 | single nucleotide variant | NM_004385.5(VCAN):c.806A>C (p.Glu269Ala) | Inborn genetic diseases [RCV003376476] | uncertain significance | 5 | 83512160 | 83512160 | Human | 1 | name |
| 401917751 | CV2827875 | single nucleotide variant | NM_004385.5(VCAN):c.3060T>C (p.Thr1020=) | not provided [RCV003429697] | likely benign | 5 | 83521366 | 83521366 | Human | | name |
| 401917752 | CV2827876 | single nucleotide variant | NM_004385.5(VCAN):c.4383G>A (p.Leu1461=) | not provided [RCV003429698] | likely benign | 5 | 83537386 | 83537386 | Human | | name |
| 402477054 | CV2857293 | single nucleotide variant | NM_004385.5(VCAN):c.913C>A (p.Arg305Ser) | not provided [RCV003543456] | uncertain significance | 5 | 83512267 | 83512267 | Human | | name |
| 402513274 | CV2860163 | single nucleotide variant | NM_004385.5(VCAN):c.7146T>C (p.Ser2382=) | not provided [RCV003575281] | likely benign | 5 | 83540149 | 83540149 | Human | | name |
| 402470893 | CV2904328 | single nucleotide variant | NM_004385.5(VCAN):c.505C>G (p.Gln169Glu) | not provided [RCV003570459] | uncertain significance | 5 | 83493605 | 83493605 | Human | | name |
| 405221528 | CV2908186 | single nucleotide variant | NM_004385.5(VCAN):c.640A>G (p.Arg214Gly) | not provided [RCV003568512] | uncertain significance | 5 | 83493823 | 83493823 | Human | | name |
| 405180023 | CV2908572 | single nucleotide variant | NM_004385.5(VCAN):c.5337A>T (p.Pro1779=) | not provided [RCV003563862] | likely benign | 5 | 83538340 | 83538340 | Human | | name |
| 405040036 | CV2929887 | single nucleotide variant | NM_004385.5(VCAN):c.6033A>T (p.Ser2011=) | not provided [RCV003579000] | likely benign | 5 | 83539036 | 83539036 | Human | | name |
| 405068293 | CV2936844 | single nucleotide variant | NM_004385.5(VCAN):c.9507T>C (p.Cys3169=) | not provided [RCV003659265] | likely benign | 5 | 83553377 | 83553377 | Human | | name |
| 402488594 | CV2941526 | single nucleotide variant | NM_004385.5(VCAN):c.3522C>T (p.Ser1174=) | not provided [RCV003660266] | likely benign | 5 | 83521828 | 83521828 | Human | | name |
| 402483923 | CV2944824 | single nucleotide variant | NM_004385.5(VCAN):c.4167T>C (p.Asn1389=) | not provided [RCV003659899] | likely benign | 5 | 83537170 | 83537170 | Human | | name |
| 402485282 | CV2945000 | single nucleotide variant | NM_004385.5(VCAN):c.8619A>G (p.Glu2873=) | not provided [RCV003660015] | likely benign | 5 | 83541622 | 83541622 | Human | | name |
| 405183332 | CV2952767 | single nucleotide variant | NM_004385.5(VCAN):c.6459A>T (p.Thr2153=) | not provided [RCV003676442] | likely benign | 5 | 83539462 | 83539462 | Human | | name |
| 405118995 | CV2955825 | single nucleotide variant | NM_004385.5(VCAN):c.8391T>C (p.Asp2797=) | not provided [RCV003671192] | likely benign | 5 | 83541394 | 83541394 | Human | | name |
| 405148867 | CV2960248 | single nucleotide variant | NM_004385.5(VCAN):c.6795T>C (p.Thr2265=) | not provided [RCV003669907] | likely benign | 5 | 83539798 | 83539798 | Human | | name |
| 405189098 | CV2974204 | single nucleotide variant | NM_004385.5(VCAN):c.9105G>A (p.Ala3035=) | not provided [RCV003676984] | likely benign | 5 | 83542108 | 83542108 | Human | | name |
| 405186918 | CV2977547 | single nucleotide variant | NM_004385.5(VCAN):c.6942C>A (p.Leu2314=) | not provided [RCV003706102] | likely benign | 5 | 83539945 | 83539945 | Human | | name |
| 405200305 | CV2978789 | single nucleotide variant | NM_004385.5(VCAN):c.910G>T (p.Val304Leu) | not provided [RCV003678118] | uncertain significance | 5 | 83512264 | 83512264 | Human | | name |
| 11586899 | CV298250 | single nucleotide variant | NM_004385.5(VCAN):c.4236T>C (p.Asn1412=) | Vitreoretinopathy [RCV000291341]|Wagner syndrome [RCV000343772] | uncertain significance | 5 | 83537239 | 83537239 | Human | 2 | name |
| 11589779 | CV298251 | single nucleotide variant | NM_004385.5(VCAN):c.4248C>T (p.Leu1416=) | Vitreoretinopathy [RCV000391382]|Wagner syndrome [RCV000313457]|not provided [RCV003766038] | likely benign|uncertain significance | 5 | 83537251 | 83537251 | Human | 2 | name |
| 11584714 | CV298252 | single nucleotide variant | NM_004385.5(VCAN):c.5202G>A (p.Thr1734=) | Vitreoretinopathy [RCV000363620]|Wagner syndrome [RCV000275987]|not provided [RCV002058538] | benign|likely benign | 5 | 83538205 | 83538205 | Human | 2 | name |
| 11589019 | CV298258 | single nucleotide variant | NM_004385.5(VCAN):c.5526C>T (p.Ala1842=) | Vitreoretinopathy [RCV000407313]|Wagner syndrome [RCV000307734]|not provided [RCV001522671] | benign|likely benign | 5 | 83538529 | 83538529 | Human | 2 | name |
| 402507096 | CV2982601 | single nucleotide variant | NM_004385.5(VCAN):c.8016T>G (p.Thr2672=) | not provided [RCV003689166] | likely benign | 5 | 83541019 | 83541019 | Human | | name |
| 11586370 | CV298274 | single nucleotide variant | NM_004385.5(VCAN):c.7035G>A (p.Thr2345=) | Vitreoretinopathy [RCV000287202]|Wagner syndrome [RCV000342202]|not provided [RCV001494339] | benign|likely benign|uncertain significance | 5 | 83540038 | 83540038 | Human | 2 | name |
| 11646160 | CV298285 | single nucleotide variant | NM_004385.5(VCAN):c.8064C>T (p.Pro2688=) | Vitreoretinopathy [RCV000361839]|Wagner syndrome [RCV000269462] | uncertain significance | 5 | 83541067 | 83541067 | Human | 2 | name |
| 404982982 | CV2982997 | single nucleotide variant | NM_004385.5(VCAN):c.6375A>G (p.Ser2125=) | not provided [RCV003691411] | likely benign | 5 | 83539378 | 83539378 | Human | | name |
| 405194222 | CV2985936 | single nucleotide variant | NM_004385.5(VCAN):c.9189G>A (p.Leu3063=) | not provided [RCV003706746] | likely benign | 5 | 83542192 | 83542192 | Human | | name |
| 405254922 | CV3000036 | single nucleotide variant | NM_004385.5(VCAN):c.4884A>C (p.Val1628=) | not provided [RCV003723230] | likely benign | 5 | 83537887 | 83537887 | Human | | name |
| 405249476 | CV3000733 | single nucleotide variant | NM_004385.5(VCAN):c.8172T>A (p.Thr2724=) | not provided [RCV003721356] | likely benign | 5 | 83541175 | 83541175 | Human | | name |
| 405077916 | CV3004386 | single nucleotide variant | NM_004385.5(VCAN):c.7167A>G (p.Ala2389=) | not provided [RCV003716907] | likely benign | 5 | 83540170 | 83540170 | Human | | name |
| 11582891 | CV300559 | single nucleotide variant | NM_004385.5(VCAN):c.4272A>G (p.Pro1424=) | Vitreoretinopathy [RCV000312321]|Wagner syndrome [RCV000262927]|not provided [RCV001519151] | benign|likely benign | 5 | 83537275 | 83537275 | Human | 2 | name |
| 11584251 | CV300560 | single nucleotide variant | NM_004385.5(VCAN):c.5190A>G (p.Gly1730=) | Vitreoretinopathy [RCV000364637]|Wagner syndrome [RCV000272332]|not provided [RCV001521422] | benign|likely benign | 5 | 83538193 | 83538193 | Human | 2 | name |
| 11587279 | CV300564 | single nucleotide variant | NM_004385.5(VCAN):c.5427C>T (p.His1809=) | Vitreoretinopathy [RCV000385659]|Wagner syndrome [RCV000293771] | uncertain significance | 5 | 83538430 | 83538430 | Human | 2 | name |
| 11586720 | CV300565 | single nucleotide variant | NM_004385.5(VCAN):c.6201A>G (p.Glu2067=) | Vitreoretinopathy [RCV000384310]|Wagner syndrome [RCV000290025] | uncertain significance | 5 | 83539204 | 83539204 | Human | 2 | name |
| 11587735 | CV300570 | single nucleotide variant | NM_004385.5(VCAN):c.6672T>C (p.Asp2224=) | VCAN-related disorder [RCV003922562]|Vitreoretinopathy [RCV000297502]|Wagner syndrome [RCV000350986]|not provided [RCV002058539] | likely benign | 5 | 83539675 | 83539675 | Human | 2 | name , alternate_id |
| 11589722 | CV300584 | single nucleotide variant | NM_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 pathogenicity | 5 | 83540422 | 83540422 | Human | 2 | name |
| 11586200 | CV300597 | single nucleotide variant | NM_004385.5(VCAN):c.8454G>A (p.Ala2818=) | Vitreoretinopathy [RCV000343694]|Wagner syndrome [RCV000286348]|not provided [RCV001459128] | likely benign|uncertain significance | 5 | 83541457 | 83541457 | Human | 2 | name |
| 405029549 | CV3012523 | single nucleotide variant | NM_004385.5(VCAN):c.3843G>T (p.Thr1281=) | not provided [RCV003695462] | likely benign | 5 | 83522149 | 83522149 | Human | | name |
| 405162733 | CV3017931 | single nucleotide variant | NM_004385.5(VCAN):c.775A>G (p.Ser259Gly) | not provided [RCV003704080] | uncertain significance | 5 | 83512129 | 83512129 | Human | | name |
| 405095615 | CV3022959 | single nucleotide variant | NM_004385.5(VCAN):c.5805T>C (p.Ser1935=) | not provided [RCV003700063] | likely benign | 5 | 83538808 | 83538808 | Human | | name |
| 405092268 | CV3026030 | single nucleotide variant | NM_004385.5(VCAN):c.5325C>T (p.Ser1775=) | not provided [RCV003699815] | likely benign | 5 | 83538328 | 83538328 | Human | | name |
| 405077211 | CV3031742 | single nucleotide variant | NM_004385.5(VCAN):c.7113T>C (p.Thr2371=) | not provided [RCV003698671] | likely benign | 5 | 83540116 | 83540116 | Human | | name |
| 402502044 | CV3035473 | single nucleotide variant | NM_004385.5(VCAN):c.8637A>G (p.Ser2879=) | not provided [RCV003714791] | likely benign | 5 | 83541640 | 83541640 | Human | | name |
| 405226764 | CV3039476 | single nucleotide variant | NM_004385.5(VCAN):c.8475A>G (p.Pro2825=) | not provided [RCV003710838] | likely benign | 5 | 83541478 | 83541478 | Human | | name |
| 402512987 | CV3039802 | single nucleotide variant | NM_004385.5(VCAN):c.6579C>T (p.Tyr2193=) | not provided [RCV003715839] | likely benign | 5 | 83539582 | 83539582 | Human | | name |
| 405185684 | CV3040421 | single nucleotide variant | NM_004385.5(VCAN):c.952G>T (p.Gly318Cys) | not provided [RCV003705992] | uncertain significance | 5 | 83512306 | 83512306 | Human | | name |
| 11599236 | CV304792 | single nucleotide variant | NM_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 significance | 5 | 83512208 | 83512208 | Human | 5 | name , alternate_id |
| 11603721 | CV304797 | single nucleotide variant | NM_004385.5(VCAN):c.3204C>T (p.Gly1068=) | Vitreoretinopathy [RCV000346043]|Wagner syndrome [RCV000302912]|not provided [RCV002520389] | likely benign|uncertain significance | 5 | 83521510 | 83521510 | Human | 2 | name |
| 11604167 | CV304798 | single nucleotide variant | NM_004385.5(VCAN):c.3264A>G (p.Pro1088=) | Vitreoretinopathy [RCV000363539]|Wagner syndrome [RCV000306647] | uncertain significance | 5 | 83521570 | 83521570 | Human | 2 | name |
| 11604169 | CV304808 | single nucleotide variant | NM_004385.5(VCAN):c.7374A>G (p.Thr2458=) | Vitreoretinopathy [RCV000366258]|Wagner syndrome [RCV000306949]|not provided [RCV001523226] | benign|likely benign | 5 | 83540377 | 83540377 | Human | 2 | name |
| 11602157 | CV304823 | single nucleotide variant | NM_004385.5(VCAN):c.7551C>T (p.Asp2517=) | Vitreoretinopathy [RCV000288627]|Wagner syndrome [RCV000343627]|not provided [RCV001512068]|not specified [RCV001700082] | benign|likely benign | 5 | 83540554 | 83540554 | Human | 2 | name |
| 11602305 | CV304824 | single nucleotide variant | NM_004385.5(VCAN):c.7581C>T (p.Phe2527=) | Vitreoretinopathy [RCV000289927]|Wagner syndrome [RCV000349681]|not provided [RCV001435400]|not specified [RCV001699386] | benign|likely benign | 5 | 83540584 | 83540584 | Human | 2 | name |
| 11604999 | CV304828 | single nucleotide variant | NM_004385.5(VCAN):c.7638C>T (p.Asp2546=) | Vitreoretinopathy [RCV000314685]|Wagner syndrome [RCV000350897]|not provided [RCV001517019] | benign|likely benign | 5 | 83540641 | 83540641 | Human | 2 | name |
| 11599561 | CV304838 | single nucleotide variant | NM_004385.5(VCAN):c.7743T>C (p.Asp2581=) | Vitreoretinopathy [RCV000302128]|Wagner syndrome [RCV000266778]|not provided [RCV000966187] | benign | 5 | 83540746 | 83540746 | Human | 2 | name |
| 11601815 | CV305073 | single nucleotide variant | NM_004385.5(VCAN):c.3201G>A (p.Glu1067=) | Vitreoretinopathy [RCV000342394]|Wagner syndrome [RCV000285361]|not provided [RCV001523228] | benign|likely benign | 5 | 83521507 | 83521507 | Human | 2 | name |
| 11600710 | CV305077 | single nucleotide variant | NM_004385.5(VCAN):c.3282A>G (p.Pro1094=) | Vitreoretinopathy [RCV000314891]|Wagner syndrome [RCV000276062]|not provided [RCV001433296] | benign|likely benign | 5 | 83521588 | 83521588 | Human | 2 | name |
| 11646275 | CV305078 | single nucleotide variant | NM_004385.5(VCAN):c.6169A>C (p.Arg2057=) | Vitreoretinopathy [RCV000323783]|Wagner syndrome [RCV000270062]|not provided [RCV001497835] | likely benign|uncertain significance | 5 | 83539172 | 83539172 | Human | 2 | name |
| 11601209 | CV305094 | single nucleotide variant | NM_004385.5(VCAN):c.8338C>T (p.Leu2780=) | Vitreoretinopathy [RCV000319062]|Wagner syndrome [RCV000280328]|not provided [RCV001521195] | benign|likely benign | 5 | 83541341 | 83541341 | Human | 2 | name |
| 11599683 | CV305109 | single nucleotide variant | NM_004385.5(VCAN):c.9291G>A (p.Pro3097=) | Vitreoretinopathy [RCV000360031]|Wagner syndrome [RCV000267759]|not provided [RCV000901937] | benign|likely benign | 5 | 83545562 | 83545562 | Human | 2 | name |
| 405226692 | CV3069363 | single nucleotide variant | NM_004385.5(VCAN):c.823G>T (p.Ala275Ser) | not provided [RCV003734175] | uncertain significance | 5 | 83512177 | 83512177 | Human | | name |
| 405144890 | CV3126195 | single nucleotide variant | NM_004385.5(VCAN):c.4716A>G (p.Glu1572=) | not provided [RCV003817111] | likely benign | 5 | 83537719 | 83537719 | Human | | name |
| 404979714 | CV3127860 | single nucleotide variant | NM_004385.5(VCAN):c.8124A>G (p.Gly2708=) | not provided [RCV003825892] | likely benign | 5 | 83541127 | 83541127 | Human | | name |
| 405133672 | CV3130202 | single nucleotide variant | NM_004385.5(VCAN):c.854C>A (p.Ala285Glu) | not provided [RCV003838625] | uncertain significance | 5 | 83512208 | 83512208 | Human | | name |
| 405136312 | CV3130616 | single nucleotide variant | NM_004385.5(VCAN):c.3225C>T (p.Val1075=) | not provided [RCV003838849] | likely benign | 5 | 83521531 | 83521531 | Human | | name |
| 405111810 | CV3137350 | single nucleotide variant | NM_004385.5(VCAN):c.632G>A (p.Arg211Gln) | not provided [RCV003836313] | uncertain significance | 5 | 83493815 | 83493815 | Human | | name |
| 405197237 | CV3138801 | single nucleotide variant | NM_004385.5(VCAN):c.982T>G (p.Phe328Val) | not provided [RCV003821617] | uncertain significance | 5 | 83512336 | 83512336 | Human | | name |
| 405014908 | CV3138953 | single nucleotide variant | NM_004385.5(VCAN):c.7746T>C (p.His2582=) | not provided [RCV003829290] | likely benign | 5 | 83540749 | 83540749 | Human | | name |
| 405064730 | CV3139733 | single nucleotide variant | NM_004385.5(VCAN):c.790G>A (p.Glu264Lys) | not provided [RCV003833080] | uncertain significance | 5 | 83512144 | 83512144 | Human | | name |
| 405147330 | CV3141863 | single nucleotide variant | NM_004385.5(VCAN):c.5391T>C (p.Asn1797=) | not provided [RCV003839785] | likely benign | 5 | 83538394 | 83538394 | Human | | name |
| 405224592 | CV3142214 | single nucleotide variant | NM_004385.5(VCAN):c.3531T>C (p.Asp1177=) | not provided [RCV003847753] | likely benign | 5 | 83521837 | 83521837 | Human | | name |
| 405216525 | CV3143405 | single nucleotide variant | NM_004385.5(VCAN):c.6315T>C (p.Pro2105=) | not provided [RCV003846569] | likely benign | 5 | 83539318 | 83539318 | Human | | name |
| 405182366 | CV3147640 | single nucleotide variant | NM_004385.5(VCAN):c.6975G>A (p.Gly2325=) | not provided [RCV003842542] | likely benign | 5 | 83539978 | 83539978 | Human | | name |
| 405228895 | CV3153323 | single nucleotide variant | NM_004385.5(VCAN):c.8958C>T (p.Val2986=) | not provided [RCV003848386] | likely benign | 5 | 83541961 | 83541961 | Human | | name |
| 405046142 | CV3154541 | single nucleotide variant | NM_004385.5(VCAN):c.7368C>T (p.Ser2456=) | not provided [RCV003849217] | likely benign | 5 | 83540371 | 83540371 | Human | | name |
| 405223933 | CV3155005 | single nucleotide variant | NM_004385.5(VCAN):c.5910A>G (p.Ser1970=) | not provided [RCV003847501] | likely benign | 5 | 83538913 | 83538913 | Human | | name |
| 405220754 | CV3157814 | single nucleotide variant | NM_004385.5(VCAN):c.362T>C (p.Leu121Pro) | not provided [RCV003863506] | uncertain significance | 5 | 83490389 | 83490389 | Human | | name |
| 405247210 | CV3158718 | single nucleotide variant | NM_004385.5(VCAN):c.883G>A (p.Asp295Asn) | not provided [RCV003869060] | uncertain significance | 5 | 83512237 | 83512237 | Human | | name |
| 405136279 | CV3164339 | single nucleotide variant | NM_004385.5(VCAN):c.9921C>A (p.Thr3307=) | not provided [RCV003855134] | likely benign | 5 | 83580020 | 83580020 | Human | | name |
| 405091497 | CV3167933 | single nucleotide variant | NM_004385.5(VCAN):c.694T>G (p.Phe232Val) | not provided [RCV003852323] | uncertain significance | 5 | 83493877 | 83493877 | Human | | name |
| 405227598 | CV3169510 | single nucleotide variant | NM_004385.5(VCAN):c.8685C>T (p.Asp2895=) | not provided [RCV003864534] | likely benign | 5 | 83541688 | 83541688 | Human | | name |
| 405265044 | CV3201473 | single nucleotide variant | NM_004385.5(VCAN):c.9864G>A (p.Thr3288=) | VCAN-related disorder [RCV003897231]|not provided [RCV005101577] | likely benign | 5 | 83572544 | 83572544 | Human | 1 | name , alternate_id |
| 405295274 | CV3211189 | single nucleotide variant | NM_004385.5(VCAN):c.3675A>G (p.Pro1225=) | VCAN-related disorder [RCV003937173] | likely benign | 5 | 83521981 | 83521981 | Human | | name , trait , alternate_id |
| 405806549 | CV3345477 | single nucleotide variant | NM_004385.5(VCAN):c.905C>G (p.Ala302Gly) | Inborn genetic diseases [RCV004480264] | uncertain significance | 5 | 83512259 | 83512259 | Human | 1 | name |
| 596939238 | CV3407730 | single nucleotide variant | NM_004385.5(VCAN):c.703C>T (p.Pro235Ser) | Retinal dystrophy [RCV004814190] | uncertain significance | 5 | 83493886 | 83493886 | Human | 2 | name |
| 408374295 | CV3515486 | single nucleotide variant | NM_004385.5(VCAN):c.3210A>G (p.Gly1070=) | VCAN-related disorder [RCV004746638] | likely benign | 5 | 83521516 | 83521516 | Human | | name , trait , alternate_id |
| 408393716 | CV3519660 | single nucleotide variant | NM_004385.5(VCAN):c.652T>A (p.Tyr218Asn) | not provided [RCV004763956] | uncertain significance | 5 | 83493835 | 83493835 | Human | | name |
| 597643066 | CV3633267 | single nucleotide variant | NM_004385.5(VCAN):c.740A>C (p.His247Pro) | Inborn genetic diseases [RCV004972106] | uncertain significance | 5 | 83493923 | 83493923 | Human | 1 | name |
| 597908043 | CV3738974 | single nucleotide variant | NM_004385.5(VCAN):c.5778A>G (p.Thr1926=) | not provided [RCV005073209] | likely benign | 5 | 83538781 | 83538781 | Human | | name |
| 597887279 | CV3741917 | single nucleotide variant | NM_004385.5(VCAN):c.8889C>T (p.Ala2963=) | not provided [RCV005070637] | likely benign | 5 | 83541892 | 83541892 | Human | | name |
| 597864095 | CV3742165 | single nucleotide variant | NM_004385.5(VCAN):c.499G>T (p.Ala167Ser) | not provided [RCV005067781] | uncertain significance | 5 | 83493599 | 83493599 | Human | | name |
| 597881190 | CV3744909 | single nucleotide variant | NM_004385.5(VCAN):c.4608T>C (p.His1536=) | not provided [RCV005069934] | likely benign | 5 | 83537611 | 83537611 | Human | | name |
| 597891403 | CV3749377 | single nucleotide variant | NM_004385.5(VCAN):c.7338A>G (p.Ala2446=) | not provided [RCV005071161] | likely benign | 5 | 83540341 | 83540341 | Human | | name |
| 597971166 | CV3750643 | single nucleotide variant | NM_004385.5(VCAN):c.4624C>T (p.Leu1542=) | not provided [RCV005084387] | likely benign | 5 | 83537627 | 83537627 | Human | | name |
| 597943061 | CV3757795 | single nucleotide variant | NM_004385.5(VCAN):c.7017T>C (p.Thr2339=) | not provided [RCV005077793] | likely benign | 5 | 83540020 | 83540020 | Human | | name |
| 597951263 | CV3759720 | single nucleotide variant | NM_004385.5(VCAN):c.8007C>T (p.His2669=) | not provided [RCV005079320] | likely benign | 5 | 83541010 | 83541010 | Human | | name |
| 597834054 | CV3760511 | single nucleotide variant | NM_004385.5(VCAN):c.916C>T (p.His306Tyr) | not provided [RCV005085254] | uncertain significance | 5 | 83512270 | 83512270 | Human | | name |
| 597883203 | CV3764322 | single nucleotide variant | NM_004385.5(VCAN):c.4458C>T (p.Tyr1486=) | not provided [RCV005109540] | likely benign | 5 | 83537461 | 83537461 | Human | | name |
| 597952867 | CV3776296 | single nucleotide variant | NM_004385.5(VCAN):c.8316A>G (p.Ala2772=) | not provided [RCV005121424] | likely benign | 5 | 83541319 | 83541319 | Human | | name |
| 597944812 | CV3779488 | single nucleotide variant | NM_004385.5(VCAN):c.5061C>T (p.Thr1687=) | not provided [RCV005134452] | likely benign | 5 | 83538064 | 83538064 | Human | | name |
| 597954913 | CV3786779 | single nucleotide variant | NM_004385.5(VCAN):c.592G>A (p.Ala198Thr) | not provided [RCV005121871] | uncertain significance | 5 | 83493692 | 83493692 | Human | | name |
| 597889625 | CV3788121 | single nucleotide variant | NM_004385.5(VCAN):c.5394A>C (p.Thr1798=) | not provided [RCV005125479] | likely benign | 5 | 83538397 | 83538397 | Human | | name |
| 597940135 | CV3788937 | single nucleotide variant | NM_004385.5(VCAN):c.6894T>C (p.Ile2298=) | not provided [RCV005133400] | likely benign | 5 | 83539897 | 83539897 | Human | | name |
| 597946909 | CV3790491 | single nucleotide variant | NM_004385.5(VCAN):c.3885T>C (p.Thr1295=) | not provided [RCV005134899] | likely benign | 5 | 83522191 | 83522191 | Human | | name |
| 597933760 | CV3793453 | single nucleotide variant | NM_004385.5(VCAN):c.6207G>T (p.Thr2069=) | not provided [RCV005132109] | likely benign | 5 | 83539210 | 83539210 | Human | | name |
| 597965654 | CV3793807 | single nucleotide variant | NM_004385.5(VCAN):c.7716G>T (p.Ser2572=) | not provided [RCV005140189] | likely benign | 5 | 83540719 | 83540719 | Human | | name |
| 597899933 | CV3796493 | single nucleotide variant | NM_004385.5(VCAN):c.9093G>A (p.Gln3031=) | not provided [RCV005152576] | likely benign | 5 | 83542096 | 83542096 | Human | | name |
| 597973584 | CV3801464 | single nucleotide variant | NM_004385.5(VCAN):c.9774C>T (p.Phe3258=) | not provided [RCV005143453] | likely benign | 5 | 83572454 | 83572454 | Human | | name |
| 597871927 | CV3805222 | single nucleotide variant | NM_004385.5(VCAN):c.5730G>A (p.Glu1910=) | not provided [RCV005148500] | likely benign | 5 | 83538733 | 83538733 | Human | | name |
| 597945609 | CV3807374 | single nucleotide variant | NM_004385.5(VCAN):c.6132A>T (p.Gly2044=) | not provided [RCV005160009] | likely benign | 5 | 83539135 | 83539135 | Human | | name |
| 597939090 | CV3808383 | single nucleotide variant | NM_004385.5(VCAN):c.6384C>T (p.Ser2128=) | not provided [RCV005158571] | likely benign | 5 | 83539387 | 83539387 | Human | | name |
| 597962715 | CV3809246 | single nucleotide variant | NM_004385.5(VCAN):c.4557A>G (p.Ala1519=) | not provided [RCV005164148] | likely benign | 5 | 83537560 | 83537560 | Human | | name |
| 597881548 | CV3810616 | single nucleotide variant | NM_004385.5(VCAN):c.3528G>A (p.Glu1176=) | not provided [RCV005149885] | likely benign | 5 | 83521834 | 83521834 | Human | | name |
| 597917257 | CV3811137 | single nucleotide variant | NM_004385.5(VCAN):c.7899G>A (p.Glu2633=) | not provided [RCV005155172] | likely benign | 5 | 83540902 | 83540902 | Human | | name |
| 597917279 | CV3811141 | single nucleotide variant | NM_004385.5(VCAN):c.4491G>A (p.Glu1497=) | not provided [RCV005155176] | likely benign | 5 | 83537494 | 83537494 | Human | | name |
| 597961729 | CV3812221 | single nucleotide variant | NM_004385.5(VCAN):c.4896G>C (p.Gly1632=) | not provided [RCV005163874] | likely benign | 5 | 83537899 | 83537899 | Human | | name |
| 597953816 | CV3815940 | single nucleotide variant | NM_004385.5(VCAN):c.6831A>G (p.Glu2277=) | not provided [RCV005161692] | likely benign | 5 | 83539834 | 83539834 | Human | | name |
| 597927698 | CV3816004 | single nucleotide variant | NM_004385.5(VCAN):c.8298T>A (p.Ser2766=) | not provided [RCV005156585] | likely benign | 5 | 83541301 | 83541301 | Human | | name |
| 597942641 | CV3816293 | single nucleotide variant | NM_004385.5(VCAN):c.318T>A (p.His106Gln) | not provided [RCV005159354] | uncertain significance | 5 | 83490345 | 83490345 | Human | | name |
| 597914003 | CV3817470 | single nucleotide variant | NM_004385.5(VCAN):c.374C>T (p.Ala125Val) | not provided [RCV005154672] | uncertain significance | 5 | 83490401 | 83490401 | Human | | name |
| 597861831 | CV3817682 | single nucleotide variant | NM_004385.5(VCAN):c.3174G>A (p.Glu1058=) | not provided [RCV005146868] | likely benign | 5 | 83521480 | 83521480 | Human | | name |
| 597842241 | CV3822048 | single nucleotide variant | NM_004385.5(VCAN):c.4014T>C (p.Ser1338=) | not provided [RCV005172362] | likely benign | 5 | 83537017 | 83537017 | Human | | name |
| 597856774 | CV3822165 | single nucleotide variant | NM_004385.5(VCAN):c.8883A>G (p.Thr2961=) | not provided [RCV005174463] | likely benign | 5 | 83541886 | 83541886 | Human | | name |
| 597892136 | CV3822858 | single nucleotide variant | NM_004385.5(VCAN):c.6450C>T (p.Leu2150=) | not provided [RCV005179934] | likely benign | 5 | 83539453 | 83539453 | Human | | name |
| 597966056 | CV3823676 | single nucleotide variant | NM_004385.5(VCAN):c.941A>G (p.Gln314Arg) | not provided [RCV005165096] | uncertain significance | 5 | 83512295 | 83512295 | Human | | name |
| 597841567 | CV3825543 | single nucleotide variant | NM_004385.5(VCAN):c.8766T>C (p.Ala2922=) | not provided [RCV005172226] | likely benign | 5 | 83541769 | 83541769 | Human | | name |
| 597932239 | CV3827224 | single nucleotide variant | NM_004385.5(VCAN):c.499G>A (p.Ala167Thr) | not provided [RCV005157237] | uncertain significance | 5 | 83493599 | 83493599 | Human | | name |
| 597975593 | CV3828591 | single nucleotide variant | NM_004385.5(VCAN):c.8478A>G (p.Ser2826=) | not provided [RCV005169220] | likely benign | 5 | 83541481 | 83541481 | Human | | name |
| 597964935 | CV3830616 | single nucleotide variant | NM_004385.5(VCAN):c.7458A>G (p.Ser2486=) | not provided [RCV005164756] | likely benign | 5 | 83540461 | 83540461 | Human | | name |
| 597842476 | CV3831025 | single nucleotide variant | NM_004385.5(VCAN):c.7497C>T (p.Ser2499=) | not provided [RCV005172406] | likely benign | 5 | 83540500 | 83540500 | Human | | name |
| 597832545 | CV3831287 | single nucleotide variant | NM_004385.5(VCAN):c.5679A>G (p.Arg1893=) | not provided [RCV005170490] | likely benign | 5 | 83538682 | 83538682 | Human | | name |
| 597912675 | CV3834291 | single nucleotide variant | NM_004385.5(VCAN):c.4695T>A (p.Ala1565=) | not provided [RCV005183053] | likely benign | 5 | 83537698 | 83537698 | Human | | name |
| 597897109 | CV3854321 | single nucleotide variant | NM_004385.5(VCAN):c.770T>C (p.Val257Ala) | not provided [RCV005201428] | uncertain significance | 5 | 83512124 | 83512124 | Human | | name |
| 597899063 | CV3854627 | single nucleotide variant | NM_004385.5(VCAN):c.6249A>G (p.Thr2083=) | not provided [RCV005201735] | likely benign | 5 | 83539252 | 83539252 | Human | | name |
| 597894750 | CV3857236 | single nucleotide variant | NM_004385.5(VCAN):c.4743A>T (p.Thr1581=) | not provided [RCV005201100] | likely benign | 5 | 83537746 | 83537746 | Human | | name |
| 15157286 | CV699201 | single nucleotide variant | NM_004385.5(VCAN):c.7161A>G (p.Ser2387=) | not provided [RCV000946857] | likely benign | 5 | 83540164 | 83540164 | Human | | name |
| 15157303 | CV699204 | single nucleotide variant | NM_004385.5(VCAN):c.9018T>A (p.Ser3006=) | not provided [RCV000946860] | benign | 5 | 83542021 | 83542021 | Human | | name |
| 15181876 | CV721579 | single nucleotide variant | NM_004385.5(VCAN):c.7812A>G (p.Glu2604=) | not provided [RCV000885864] | likely benign | 5 | 83540815 | 83540815 | Human | | name |
| 15163315 | CV735242 | single nucleotide variant | NM_004385.5(VCAN):c.763C>T (p.Leu255Phe) | not provided [RCV000903746] | benign | 5 | 83512117 | 83512117 | Human | | name |
| 15150306 | CV735248 | single nucleotide variant | NM_004385.5(VCAN):c.6126C>T (p.Asp2042=) | not provided [RCV000901122] | benign | 5 | 83539129 | 83539129 | Human | | name |
| 15133493 | CV735250 | single nucleotide variant | NM_004385.5(VCAN):c.7881C>T (p.Val2627=) | not provided [RCV000898141] | likely benign | 5 | 83540884 | 83540884 | Human | | name |
| 15133298 | CV735251 | single nucleotide variant | NM_004385.5(VCAN):c.8889C>G (p.Ala2963=) | not provided [RCV000898109] | likely benign | 5 | 83541892 | 83541892 | Human | | name |
| 15123248 | CV735253 | single nucleotide variant | NM_004385.5(VCAN):c.9960G>C (p.Leu3320=) | VCAN-related disorder [RCV003922878]|not provided [RCV000896379] | benign | 5 | 83580059 | 83580059 | Human | 1 | name , alternate_id |
| 15115413 | CV749638 | single nucleotide variant | NM_004385.5(VCAN):c.3708C>T (p.Ile1236=) | not provided [RCV000917450] | likely benign | 5 | 83522014 | 83522014 | Human | | name |
| 15156226 | CV749639 | single nucleotide variant | NM_004385.5(VCAN):c.6796C>T (p.Leu2266=) | not provided [RCV000924627] | likely benign | 5 | 83539799 | 83539799 | Human | | name |
| 15146857 | CV749640 | single nucleotide variant | NM_004385.5(VCAN):c.7176C>T (p.Asn2392=) | not provided [RCV000922791] | benign | 5 | 83540179 | 83540179 | Human | | name |
| 15109663 | CV749642 | single nucleotide variant | NM_004385.5(VCAN):c.8463T>G (p.Ser2821=) | VCAN-related disorder [RCV003923234]|not provided [RCV000916381] | likely benign | 5 | 83541466 | 83541466 | Human | 1 | name , alternate_id |
| 15180653 | CV765362 | single nucleotide variant | NM_004385.5(VCAN):c.394G>A (p.Val132Ile) | not provided [RCV000929939] | benign | 5 | 83490421 | 83490421 | Human | | name |
| 8626052 | CV81196 | single nucleotide variant | NM_004385.4(VCAN):c.3294T>C (p.Ile1098=) | Malignant melanoma [RCV000061274] | not provided | 5 | 83521600 | 83521600 | Human | | name |
| 26917684 | CV831185 | single nucleotide variant | NM_004385.5(VCAN):c.322G>A (p.Glu108Lys) | not provided [RCV001042169] | uncertain significance | 5 | 83490349 | 83490349 | Human | | name |
| 26915244 | CV831186 | single nucleotide variant | NM_004385.5(VCAN):c.328G>T (p.Val110Leu) | Inborn genetic diseases [RCV005286274]|not provided [RCV001038695] | uncertain significance | 5 | 83490355 | 83490355 | Human | 1 | name |
| 26892052 | CV831187 | single nucleotide variant | NM_004385.5(VCAN):c.385C>T (p.Arg129Cys) | Inborn genetic diseases [RCV004031950]|not provided [RCV001061234] | uncertain significance | 5 | 83490412 | 83490412 | Human | 1 | name |
| 26887624 | CV831188 | single nucleotide variant | NM_004385.5(VCAN):c.853G>A (p.Ala285Thr) | not provided [RCV001056598] | uncertain significance | 5 | 83512207 | 83512207 | Human | | name |
| 26888134 | CV831228 | single nucleotide variant | NM_004385.5(VCAN):c.8124A>T (p.Gly2708=) | not provided [RCV001057116] | likely benign|uncertain significance | 5 | 83541127 | 83541127 | Human | | name |
| 26910020 | CV856386 | deletion | NM_004385.5(VCAN):c.1720del (p.Asp574fs) | Retinal dystrophy [RCV001074292] | likely pathogenic | 5 | 83520026 | 83520026 | Human | 2 | name |
| 8631727 | CV86933 | single nucleotide variant | NM_004385.4(VCAN):c.607G>A (p.Asp203Asn) | Malignant melanoma [RCV000067024] | not provided | 5 | 83493707 | 83493707 | Human | | name |
| 28897356 | CV894776 | single nucleotide variant | NM_004385.5(VCAN):c.329T>G (p.Val110Gly) | Vitreoretinopathy [RCV001155004]|Wagner syndrome [RCV001155005]|not provided [RCV001493100] | benign|likely benign | 5 | 83490356 | 83490356 | Human | 2 | name |
| 28902386 | CV894797 | single nucleotide variant | NM_004385.5(VCAN):c.4545C>T (p.Ala1515=) | Vitreoretinopathy [RCV001157100]|Wagner syndrome [RCV001157099] | uncertain significance | 5 | 83537548 | 83537548 | Human | 2 | name |
| 28888078 | CV894799 | single nucleotide variant | NM_004385.5(VCAN):c.4761T>A (p.Val1587=) | Vitreoretinopathy [RCV001151653]|Wagner syndrome [RCV001151652] | uncertain significance | 5 | 83537764 | 83537764 | Human | 2 | name |
| 28898950 | CV894803 | single nucleotide variant | NM_004385.5(VCAN):c.6138A>G (p.Gly2046=) | Vitreoretinopathy [RCV001155639]|Wagner syndrome [RCV001155638] | uncertain significance | 5 | 83539141 | 83539141 | Human | 2 | name |
| 28899150 | CV894811 | single nucleotide variant | NM_004385.5(VCAN):c.7371C>T (p.Thr2457=) | Vitreoretinopathy [RCV001157411]|Wagner syndrome [RCV001155714]|not provided [RCV001510908] | benign | 5 | 83540374 | 83540374 | Human | 2 | name |
| 28903114 | CV894812 | single nucleotide variant | NM_004385.5(VCAN):c.7434T>G (p.Thr2478=) | Vitreoretinopathy [RCV001157412]|Wagner syndrome [RCV001157413] | uncertain significance | 5 | 83540437 | 83540437 | Human | 2 | name |
| 28903347 | CV894815 | single nucleotide variant | NM_004385.5(VCAN):c.8052C>T (p.Asp2684=) | Vitreoretinopathy [RCV001157519]|Wagner syndrome [RCV001157518]|not provided [RCV002070939] | likely benign|uncertain significance | 5 | 83541055 | 83541055 | Human | 2 | name |
| 28899680 | CV894819 | single nucleotide variant | NM_004385.5(VCAN):c.8634A>G (p.Pro2878=) | Vitreoretinopathy [RCV001155926]|Wagner syndrome [RCV001155925]|not provided [RCV001498382] | likely benign | 5 | 83541637 | 83541637 | Human | 2 | name |
| 28903617 | CV894820 | single nucleotide variant | NM_004385.5(VCAN):c.9009G>A (p.Thr3003=) | Vitreoretinopathy [RCV001157630]|Wagner syndrome [RCV001157629]|not provided [RCV001469474] | benign|likely benign | 5 | 83542012 | 83542012 | Human | 2 | name |
| 38478968 | CV933046 | single nucleotide variant | NM_004385.5(VCAN):c.8223G>A (p.Leu2741=) | not provided [RCV001205782] | likely benign|uncertain significance | 5 | 83541226 | 83541226 | Human | | name |
| 38495289 | CV944726 | single nucleotide variant | NM_004385.5(VCAN):c.386G>T (p.Arg129Leu) | Inborn genetic diseases [RCV005286354]|not provided [RCV001225619] | uncertain significance | 5 | 83490413 | 83490413 | Human | 1 | name |
| 38473045 | CV944727 | single nucleotide variant | NM_004385.5(VCAN):c.772C>T (p.Pro258Ser) | not provided [RCV001231747] | uncertain significance | 5 | 83512126 | 83512126 | Human | | name |
| 38476191 | CV944748 | single nucleotide variant | NM_004385.5(VCAN):c.6390A>G (p.Gln2130=) | not provided [RCV001232966] | likely benign|uncertain significance | 5 | 83539393 | 83539393 | Human | | name |
| 38495796 | CV954241 | single nucleotide variant | NM_004385.5(VCAN):c.523G>A (p.Val175Ile) | not provided [RCV001242163] | uncertain significance | 5 | 83493623 | 83493623 | Human | | name |
| 38467626 | CV954242 | single nucleotide variant | NM_004385.5(VCAN):c.904G>A (p.Ala302Thr) | Inborn genetic diseases [RCV004679043]|not provided [RCV001247883] | uncertain significance | 5 | 83512258 | 83512258 | Human | 1 | name |
| 126757828 | CV991112 | single nucleotide variant | NM_004385.5(VCAN):c.4332G>A (p.Ser1444=) | not provided [RCV001308536] | likely benign|uncertain significance | 5 | 83537335 | 83537335 | Human | | name |
| 156414857 | CV1955103 | single nucleotide variant | NM_004385.5(VCAN):c.2134T>A (p.Phe712Ile) | not provided [RCV002588844] | uncertain significance | 5 | 83520440 | 83520440 | Human | | name |
| 401730659 | CV2686630 | single nucleotide variant | NM_004385.5(VCAN):c.2413T>C (p.Trp805Arg) | Inborn genetic diseases [RCV003289624] | uncertain significance | 5 | 83520719 | 83520719 | Human | 1 | name |
| 401746201 | CV2694811 | single nucleotide variant | NM_004385.5(VCAN):c.2432C>A (p.Thr811Lys) | Inborn genetic diseases [RCV003241950]|VCAN-related disorder [RCV003395738] | uncertain significance | 5 | 83520738 | 83520738 | Human | 2 | name , alternate_id |
| 401770239 | CV2711008 | single nucleotide variant | NM_004385.5(VCAN):c.1976C>A (p.Ser659Tyr) | Inborn genetic diseases [RCV003260992] | uncertain significance | 5 | 83520282 | 83520282 | Human | 1 | name |
| 401936518 | CV2798637 | single nucleotide variant | NM_004385.5(VCAN):c.1486G>A (p.Gly496Ser) | VCAN-related disorder [RCV003414531] | uncertain significance | 5 | 83519792 | 83519792 | Human | | name , trait , alternate_id |
| 401901612 | CV2802239 | single nucleotide variant | NM_004385.5(VCAN):c.1874G>C (p.Arg625Thr) | VCAN-related disorder [RCV003393042] | uncertain significance | 5 | 83520180 | 83520180 | Human | | name , trait , alternate_id |
| 401917750 | CV2827874 | single nucleotide variant | NM_004385.5(VCAN):c.2089G>A (p.Asp697Asn) | not provided [RCV003429696] | uncertain significance | 5 | 83520395 | 83520395 | Human | | name |
| 405171660 | CV2864339 | single nucleotide variant | NM_004385.5(VCAN):c.1605G>T (p.Met535Ile) | not provided [RCV003542214] | uncertain significance | 5 | 83519911 | 83519911 | Human | | name |
| 405216741 | CV2872581 | single nucleotide variant | NM_004385.5(VCAN):c.1119G>A (p.Met373Ile) | not provided [RCV003553320] | uncertain significance | 5 | 83519425 | 83519425 | Human | | name |
| 405095621 | CV2874921 | single nucleotide variant | NM_004385.5(VCAN):c.2510A>T (p.Asn837Ile) | not provided [RCV003550239] | uncertain significance | 5 | 83520816 | 83520816 | Human | | name |
| 405199557 | CV2877033 | single nucleotide variant | NM_004385.5(VCAN):c.1976C>T (p.Ser659Phe) | not provided [RCV003551250] | uncertain significance | 5 | 83520282 | 83520282 | Human | | name |
| 402496023 | CV2883736 | single nucleotide variant | NM_004385.5(VCAN):c.2452A>C (p.Thr818Pro) | not provided [RCV003573431] | uncertain significance | 5 | 83520758 | 83520758 | Human | | name |
| 405130347 | CV2895117 | single nucleotide variant | NM_004385.5(VCAN):c.1346A>G (p.Lys449Arg) | not provided [RCV003559947] | uncertain significance | 5 | 83519652 | 83519652 | Human | | name |
| 405112592 | CV2900507 | single nucleotide variant | NM_004385.5(VCAN):c.1175C>T (p.Pro392Leu) | not provided [RCV003558087] | uncertain significance | 5 | 83519481 | 83519481 | Human | | name |
| 402475937 | CV2916846 | single nucleotide variant | NM_004385.5(VCAN):c.1280C>T (p.Thr427Ile) | not provided [RCV003571423] | uncertain significance | 5 | 83519586 | 83519586 | Human | | name |
| 405039093 | CV2929823 | single nucleotide variant | NM_004385.5(VCAN):c.1928C>T (p.Thr643Ile) | not provided [RCV003578966] | uncertain significance | 5 | 83520234 | 83520234 | Human | | name |
| 402517987 | CV2936571 | single nucleotide variant | NM_004385.5(VCAN):c.1778A>C (p.His593Pro) | not provided [RCV003663094] | uncertain significance | 5 | 83520084 | 83520084 | Human | | name |
| 405064273 | CV2939815 | single nucleotide variant | NM_004385.5(VCAN):c.1373A>G (p.Glu458Gly) | not provided [RCV003658970] | uncertain significance | 5 | 83519679 | 83519679 | Human | | name |
| 405139808 | CV2954630 | single nucleotide variant | NM_004385.5(VCAN):c.2578A>G (p.Ser860Gly) | not provided [RCV003673058] | uncertain significance | 5 | 83520884 | 83520884 | Human | | name |
| 405218466 | CV2968733 | deletion | NM_004385.5(VCAN):c.9718del (p.Thr3240fs) | not provided [RCV003680337] | uncertain significance | 5 | 83555021 | 83555021 | Human | | name |
| 405233801 | CV2975525 | single nucleotide variant | NM_004385.5(VCAN):c.1169T>C (p.Val390Ala) | not provided [RCV003682696] | uncertain significance | 5 | 83519475 | 83519475 | Human | | name |
| 405212631 | CV2984138 | single nucleotide variant | NM_004385.5(VCAN):c.2737G>A (p.Glu913Lys) | not provided [RCV003708913] | uncertain significance | 5 | 83521043 | 83521043 | Human | | name |
| 405012871 | CV2990649 | single nucleotide variant | NM_004385.5(VCAN):c.2794G>A (p.Asp932Asn) | not provided [RCV003694113] | uncertain significance | 5 | 83521100 | 83521100 | Human | | name |
| 404999691 | CV3005215 | single nucleotide variant | NM_004385.5(VCAN):c.1372G>C (p.Glu458Gln) | not provided [RCV003693052] | uncertain significance | 5 | 83519678 | 83519678 | Human | | name |
| 405126314 | CV3017344 | single nucleotide variant | NM_004385.5(VCAN):c.2429C>A (p.Thr810Lys) | not provided [RCV003701271] | uncertain significance | 5 | 83520735 | 83520735 | Human | | name |
| 405148597 | CV3024254 | single nucleotide variant | NM_004385.5(VCAN):c.1855A>G (p.Met619Val) | not provided [RCV003703124] | uncertain significance | 5 | 83520161 | 83520161 | Human | | name |
| 405047808 | CV3028945 | single nucleotide variant | NM_004385.5(VCAN):c.2716G>A (p.Val906Ile) | not provided [RCV003696784] | uncertain significance | 5 | 83521022 | 83521022 | Human | | name |
| 405184738 | CV3040157 | single nucleotide variant | NM_004385.5(VCAN):c.2198C>T (p.Pro733Leu) | not provided [RCV003705825] | uncertain significance | 5 | 83520504 | 83520504 | Human | | name |
| 405164473 | CV3059440 | single nucleotide variant | NM_004385.5(VCAN):c.1675G>A (p.Asp559Asn) | not provided [RCV003727332] | uncertain significance | 5 | 83519981 | 83519981 | Human | | name |
| 405240431 | CV3060792 | single nucleotide variant | NM_004385.5(VCAN):c.2404A>G (p.Lys802Glu) | not provided [RCV003737149] | uncertain significance | 5 | 83520710 | 83520710 | Human | | name |
| 405044398 | CV3074341 | single nucleotide variant | NM_004385.5(VCAN):c.1949G>A (p.Arg650His) | Inborn genetic diseases [RCV004374326]|not provided [RCV003740155] | likely benign|uncertain significance | 5 | 83520255 | 83520255 | Human | 1 | name |
| 405166684 | CV3125697 | single nucleotide variant | NM_004385.5(VCAN):c.1615G>C (p.Val539Leu) | not provided [RCV003818780] | uncertain significance | 5 | 83519921 | 83519921 | Human | | name |
| 402522363 | CV3126995 | single nucleotide variant | NM_004385.5(VCAN):c.2312C>T (p.Thr771Ile) | not provided [RCV003824913] | uncertain significance | 5 | 83520618 | 83520618 | Human | | name |
| 405116404 | CV3134305 | single nucleotide variant | NM_004385.5(VCAN):c.1771C>T (p.His591Tyr) | not provided [RCV003836907] | uncertain significance | 5 | 83520077 | 83520077 | Human | | name |
| 405143798 | CV3141373 | single nucleotide variant | NM_004385.5(VCAN):c.1448C>T (p.Thr483Ile) | not provided [RCV003839489] | uncertain significance | 5 | 83519754 | 83519754 | Human | | name |
| 405206973 | CV3149321 | single nucleotide variant | NM_004385.5(VCAN):c.2576A>G (p.Asp859Gly) | not provided [RCV003845231] | uncertain significance | 5 | 83520882 | 83520882 | Human | | name |
| 405190492 | CV3149658 | single nucleotide variant | NM_004385.5(VCAN):c.1371A>C (p.Glu457Asp) | not provided [RCV003843384] | uncertain significance | 5 | 83519677 | 83519677 | Human | | name |
| 405173556 | CV3150475 | single nucleotide variant | NM_004385.5(VCAN):c.2392G>A (p.Ala798Thr) | not provided [RCV003841749] | uncertain significance | 5 | 83520698 | 83520698 | Human | | name |
| 405203083 | CV3165158 | single nucleotide variant | NM_004385.5(VCAN):c.2324G>T (p.Gly775Val) | not provided [RCV003861019] | uncertain significance | 5 | 83520630 | 83520630 | Human | | name |
| 405237735 | CV3166943 | single nucleotide variant | NM_004385.5(VCAN):c.1307T>C (p.Met436Thr) | not provided [RCV003854198] | uncertain significance | 5 | 83519613 | 83519613 | Human | | name |
| 402472067 | CV3171695 | single nucleotide variant | NM_004385.5(VCAN):c.2699C>G (p.Ser900Cys) | Inborn genetic diseases [RCV004676320]|not provided [RCV003874479] | uncertain significance | 5 | 83521005 | 83521005 | Human | 1 | name |
| 402472497 | CV3171800 | single nucleotide variant | NM_004385.5(VCAN):c.1978G>C (p.Gly660Arg) | Inborn genetic diseases [RCV004676321]|not provided [RCV003874584] | uncertain significance | 5 | 83520284 | 83520284 | Human | 1 | name |
| 405212094 | CV3173561 | single nucleotide variant | NM_004385.5(VCAN):c.1487G>A (p.Gly496Asp) | not provided [RCV003862310] | uncertain significance | 5 | 83519793 | 83519793 | Human | | name |
| 405228209 | CV3180332 | single nucleotide variant | NM_004385.5(VCAN):c.1654T>G (p.Leu552Val) | not provided [RCV003864752] | uncertain significance | 5 | 83519960 | 83519960 | Human | | name |
| 405806516 | CV3345462 | single nucleotide variant | NM_004385.5(VCAN):c.1704G>T (p.Glu568Asp) | Inborn genetic diseases [RCV004480249] | uncertain significance | 5 | 83520010 | 83520010 | Human | 1 | name |
| 405806908 | CV3345464 | single nucleotide variant | NM_004385.5(VCAN):c.2891C>T (p.Thr964Ile) | Inborn genetic diseases [RCV004480251] | uncertain significance | 5 | 83521197 | 83521197 | Human | 1 | name |
| 405806523 | CV3345465 | single nucleotide variant | NM_004385.5(VCAN):c.2972C>T (p.Pro991Leu) | Inborn genetic diseases [RCV004480252] | uncertain significance | 5 | 83521278 | 83521278 | Human | 1 | name |
| 407427350 | CV3410620 | single nucleotide variant | NM_004385.5(VCAN):c.1342G>C (p.Gly448Arg) | not specified [RCV004586267] | uncertain significance | 5 | 83519648 | 83519648 | Human | | name |
| 407464822 | CV3493384 | single nucleotide variant | NM_004385.5(VCAN):c.2705C>T (p.Thr902Ile) | Inborn genetic diseases [RCV004688607] | uncertain significance | 5 | 83521011 | 83521011 | Human | 1 | name |
| 407529480 | CV3493386 | single nucleotide variant | NM_004385.5(VCAN):c.1171A>G (p.Ile391Val) | Inborn genetic diseases [RCV004680928]|not provided [RCV005059750] | uncertain significance | 5 | 83519477 | 83519477 | Human | 1 | name |
| 597643045 | CV3633263 | single nucleotide variant | NM_004385.5(VCAN):c.1151T>C (p.Leu384Ser) | Inborn genetic diseases [RCV004972102] | uncertain significance | 5 | 83519457 | 83519457 | Human | 1 | name |
| 597643061 | CV3633266 | single nucleotide variant | NM_004385.5(VCAN):c.2591A>T (p.Gln864Leu) | Inborn genetic diseases [RCV004972105] | uncertain significance | 5 | 83520897 | 83520897 | Human | 1 | name |
| 597643091 | CV3633274 | single nucleotide variant | NM_004385.5(VCAN):c.1529C>T (p.Ser510Phe) | Inborn genetic diseases [RCV004972112] | uncertain significance | 5 | 83519835 | 83519835 | Human | 1 | name |
| 597643095 | CV3633275 | single nucleotide variant | NM_004385.5(VCAN):c.2933T>C (p.Ile978Thr) | Inborn genetic diseases [RCV004972113] | uncertain significance | 5 | 83521239 | 83521239 | Human | 1 | name |
| 597643105 | CV3633277 | single nucleotide variant | NM_004385.5(VCAN):c.2108T>C (p.Ile703Thr) | Inborn genetic diseases [RCV004972115] | uncertain significance | 5 | 83520414 | 83520414 | Human | 1 | name |
| 597830281 | CV3742980 | single nucleotide variant | NM_004385.5(VCAN):c.1936C>T (p.Pro646Ser) | not provided [RCV005061988] | uncertain significance | 5 | 83520242 | 83520242 | Human | | name |
| 597936191 | CV3764797 | deletion | NM_004385.5(VCAN):c.8116del (p.Ile2706fs) | not provided [RCV005117496] | pathogenic | 5 | 83541119 | 83541119 | Human | | name |
| 597921700 | CV3765247 | single nucleotide variant | NM_004385.5(VCAN):c.2911C>T (p.His971Tyr) | not provided [RCV005115264] | uncertain significance | 5 | 83521217 | 83521217 | Human | | name |
| 597907880 | CV3781575 | single nucleotide variant | NM_004385.5(VCAN):c.2671A>T (p.Ile891Phe) | not provided [RCV005128263] | uncertain significance | 5 | 83520977 | 83520977 | Human | | name |
| 597956395 | CV3792299 | single nucleotide variant | NM_004385.5(VCAN):c.2627A>C (p.His876Pro) | Inborn genetic diseases [RCV005291175]|not provided [RCV005137186] | uncertain significance | 5 | 83520933 | 83520933 | Human | 1 | name |
| 597948928 | CV3801281 | single nucleotide variant | NM_004385.5(VCAN):c.1570A>G (p.Arg524Gly) | not provided [RCV005135461] | uncertain significance | 5 | 83519876 | 83519876 | Human | | name |
| 597949321 | CV3801405 | single nucleotide variant | NM_004385.5(VCAN):c.1766C>T (p.Thr589Ile) | not provided [RCV005135585] | uncertain significance | 5 | 83520072 | 83520072 | Human | | name |
| 597946558 | CV3807530 | single nucleotide variant | NM_004385.5(VCAN):c.1663G>A (p.Glu555Lys) | not provided [RCV005160165] | uncertain significance | 5 | 83519969 | 83519969 | Human | | name |
| 597963195 | CV3819554 | single nucleotide variant | NM_004385.5(VCAN):c.1147C>T (p.Pro383Ser) | not provided [RCV005164270] | uncertain significance | 5 | 83519453 | 83519453 | Human | | name |
| 597855320 | CV3821788 | single nucleotide variant | NM_004385.5(VCAN):c.1652C>T (p.Thr551Ile) | not provided [RCV005174266] | uncertain significance | 5 | 83519958 | 83519958 | Human | | name |
| 597839252 | CV3824922 | single nucleotide variant | NM_004385.5(VCAN):c.1424A>T (p.Asp475Val) | not provided [RCV005171786] | uncertain significance | 5 | 83519730 | 83519730 | Human | | name |
| 597964665 | CV3830498 | single nucleotide variant | NM_004385.5(VCAN):c.1704G>C (p.Glu568Asp) | not provided [RCV005164638] | uncertain significance | 5 | 83520010 | 83520010 | Human | | name |
| 597898968 | CV3854614 | single nucleotide variant | NM_004385.5(VCAN):c.2024C>G (p.Ser675Cys) | not provided [RCV005201722] | uncertain significance | 5 | 83520330 | 83520330 | Human | | name |
| 598127220 | CV3888076 | single nucleotide variant | NM_004385.5(VCAN):c.1994T>C (p.Val665Ala) | not provided [RCV005242762] | uncertain significance | 5 | 83520300 | 83520300 | Human | | name |
| 598240257 | CV3929472 | single nucleotide variant | NM_004385.5(VCAN):c.1198A>G (p.Asn400Asp) | Inborn genetic diseases [RCV005296739] | uncertain significance | 5 | 83519504 | 83519504 | Human | 1 | name |
| 598205657 | CV3929473 | single nucleotide variant | NM_004385.5(VCAN):c.2069T>G (p.Leu690Arg) | Inborn genetic diseases [RCV005290884] | uncertain significance | 5 | 83520375 | 83520375 | Human | 1 | name |
| 598240266 | CV3929476 | single nucleotide variant | NM_004385.5(VCAN):c.1360G>C (p.Glu454Gln) | Inborn genetic diseases [RCV005296741] | uncertain significance | 5 | 83519666 | 83519666 | Human | 1 | name |
| 598240276 | CV3929478 | single nucleotide variant | NM_004385.5(VCAN):c.1775C>G (p.Thr592Ser) | Inborn genetic diseases [RCV005296743] | uncertain significance | 5 | 83520081 | 83520081 | Human | 1 | name |
| 616939101 | CV4015430 | single nucleotide variant | NM_004385.5(VCAN):c.1024G>T (p.Asp342Tyr) | not provided [RCV005412942] | uncertain significance | 5 | 83512378 | 83512378 | Human | | name |
| 26888044 | CV831189 | single nucleotide variant | NM_004385.5(VCAN):c.1063G>C (p.Asp355His) | not provided [RCV001057058] | uncertain significance | 5 | 83519369 | 83519369 | Human | | name |
| 26890878 | CV831190 | single nucleotide variant | NM_004385.5(VCAN):c.1078G>A (p.Ala360Thr) | Inborn genetic diseases [RCV005298692]|not provided [RCV001059867] | uncertain significance | 5 | 83519384 | 83519384 | Human | 1 | name |
| 26902443 | CV831191 | single nucleotide variant | NM_004385.5(VCAN):c.1186C>T (p.Pro396Ser) | not provided [RCV001069346] | uncertain significance | 5 | 83519492 | 83519492 | Human | | name |
| 26904703 | CV831192 | single nucleotide variant | NM_004385.5(VCAN):c.1575G>T (p.Met525Ile) | Inborn genetic diseases [RCV005286308]|not provided [RCV001071014] | uncertain significance | 5 | 83519881 | 83519881 | Human | 1 | name |
| 26890376 | CV831193 | single nucleotide variant | NM_004385.5(VCAN):c.1601A>G (p.Lys534Arg) | not provided [RCV001059232] | uncertain significance | 5 | 83519907 | 83519907 | Human | | name |
| 26922083 | CV831194 | single nucleotide variant | NM_004385.5(VCAN):c.1747T>C (p.Ser583Pro) | not provided [RCV001051426] | uncertain significance | 5 | 83520053 | 83520053 | Human | | name |
| 26891640 | CV831195 | single nucleotide variant | NM_004385.5(VCAN):c.1814C>T (p.Thr605Ile) | not provided [RCV001060752] | uncertain significance | 5 | 83520120 | 83520120 | Human | | name |
| 26888123 | CV831196 | single nucleotide variant | NM_004385.5(VCAN):c.2050A>G (p.Arg684Gly) | VCAN-related disorder [RCV004746221]|not provided [RCV001057114] | uncertain significance | 5 | 83520356 | 83520356 | Human | 1 | name , alternate_id |
| 26894893 | CV831197 | single nucleotide variant | NM_004385.5(VCAN):c.2448G>T (p.Glu816Asp) | not provided [RCV001063735] | uncertain significance | 5 | 83520754 | 83520754 | Human | | name |
| 26894267 | CV831198 | single nucleotide variant | NM_004385.5(VCAN):c.2683T>C (p.Ser895Pro) | Inborn genetic diseases [RCV004030492]|VCAN-related disorder [RCV003396705]|not provided [RCV001063346] | uncertain significance | 5 | 83520989 | 83520989 | Human | 2 | name , alternate_id |
| 26917346 | CV831199 | single nucleotide variant | NM_004385.5(VCAN):c.2816C>T (p.Thr939Ile) | Inborn genetic diseases [RCV004686629]|not provided [RCV001041744] | uncertain significance | 5 | 83521122 | 83521122 | Human | 1 | name |
| 26909753 | CV856387 | single nucleotide variant | NM_004385.5(VCAN):c.1960G>C (p.Glu654Gln) | Retinal dystrophy [RCV001073931]|not provided [RCV005093405] | uncertain significance | 5 | 83520266 | 83520266 | Human | 2 | name |
| 28897635 | CV894780 | single nucleotide variant | NM_004385.5(VCAN):c.1009C>G (p.Pro337Ala) | Vitreoretinopathy [RCV001155115]|Wagner syndrome [RCV001155114]|not provided [RCV002032429] | benign|uncertain significance | 5 | 83512363 | 83512363 | Human | 2 | name |
| 28897639 | CV894781 | single nucleotide variant | NM_004385.5(VCAN):c.1112C>T (p.Pro371Leu) | Vitreoretinopathy [RCV001155116]|Wagner syndrome [RCV001156777] | uncertain significance | 5 | 83519418 | 83519418 | Human | 2 | name |
| 28901616 | CV894782 | single nucleotide variant | NM_004385.5(VCAN):c.1127A>C (p.Asp376Ala) | Vitreoretinopathy [RCV001156779]|Wagner syndrome [RCV001156778]|not provided [RCV001882492] | likely benign|uncertain significance | 5 | 83519433 | 83519433 | Human | 2 | name |
| 28901620 | CV894783 | single nucleotide variant | NM_004385.5(VCAN):c.1240G>A (p.Ala414Thr) | Vitreoretinopathy [RCV001156780]|Wagner syndrome [RCV001156781]|not provided [RCV002032446] | uncertain significance | 5 | 83519546 | 83519546 | Human | 2 | name |
| 28887033 | CV894784 | single nucleotide variant | NM_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 significance | 5 | 83519675 | 83519675 | Human | 3 | name |
| 28887041 | CV894785 | single nucleotide variant | NM_004385.5(VCAN):c.1457C>T (p.Ser486Leu) | Vitreoretinopathy [RCV001151333]|Wagner syndrome [RCV001151332]|not provided [RCV001439109] | benign|likely benign | 5 | 83519763 | 83519763 | Human | 2 | name |
| 28887428 | CV894788 | single nucleotide variant | NM_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 significance | 5 | 83520974 | 83520974 | Human | 3 | name , alternate_id |
| 28887433 | CV894789 | single nucleotide variant | NM_004385.5(VCAN):c.2741G>A (p.Gly914Asp) | Vitreoretinopathy [RCV001151451]|Wagner syndrome [RCV001151450]|not provided [RCV001858991] | uncertain significance | 5 | 83521047 | 83521047 | Human | 2 | name |
| 38474750 | CV924176 | single nucleotide variant | NM_004385.5(VCAN):c.2131C>T (p.Pro711Ser) | Inborn genetic diseases [RCV004033946]|not provided [RCV001214875] | likely benign|uncertain significance | 5 | 83520437 | 83520437 | Human | 1 | name |
| 38475102 | CV924177 | single nucleotide variant | NM_004385.5(VCAN):c.2879C>T (p.Thr960Ile) | Inborn genetic diseases [RCV002561858]|not provided [RCV001215026] | uncertain significance | 5 | 83521185 | 83521185 | Human | 1 | name |
| 38464146 | CV933029 | single nucleotide variant | NM_004385.5(VCAN):c.1129A>G (p.Arg377Gly) | not provided [RCV001212445] | uncertain significance | 5 | 83519435 | 83519435 | Human | | name |
| 38477723 | CV933030 | single nucleotide variant | NM_004385.5(VCAN):c.1184T>C (p.Phe395Ser) | not provided [RCV001205213] | uncertain significance | 5 | 83519490 | 83519490 | Human | | name |
| 38472251 | CV933032 | single nucleotide variant | NM_004385.5(VCAN):c.1478T>C (p.Ile493Thr) | not provided [RCV001214015] | uncertain significance | 5 | 83519784 | 83519784 | Human | | name |
| 38487146 | CV933033 | single nucleotide variant | NM_004385.5(VCAN):c.1951A>C (p.Thr651Pro) | not provided [RCV001209192] | uncertain significance | 5 | 83520257 | 83520257 | Human | | name |
| 38490162 | CV933034 | single nucleotide variant | NM_004385.5(VCAN):c.2303A>T (p.Glu768Val) | not provided [RCV001210527] | uncertain significance | 5 | 83520609 | 83520609 | Human | | name |
| 38471706 | CV944728 | single nucleotide variant | NM_004385.5(VCAN):c.1526C>G (p.Pro509Arg) | Inborn genetic diseases [RCV002563762]|not provided [RCV001231288] | uncertain significance | 5 | 83519832 | 83519832 | Human | 1 | name |
| 38489172 | CV944729 | single nucleotide variant | NM_004385.5(VCAN):c.1615G>T (p.Val539Phe) | not provided [RCV001238303] | uncertain significance | 5 | 83519921 | 83519921 | Human | | name |
| 38473784 | CV944732 | single nucleotide variant | NM_004385.5(VCAN):c.2395A>G (p.Thr799Ala) | not provided [RCV001231928] | uncertain significance | 5 | 83520701 | 83520701 | Human | | name |
| 38487635 | CV944733 | single nucleotide variant | NM_004385.5(VCAN):c.2417A>T (p.Asp806Val) | not provided [RCV001237677] | uncertain significance | 5 | 83520723 | 83520723 | Human | | name |
| 38457313 | CV954243 | single nucleotide variant | NM_004385.5(VCAN):c.1930C>T (p.Pro644Ser) | Wagner syndrome [RCV005036529]|not provided [RCV001246030] | uncertain significance | 5 | 83520236 | 83520236 | Human | 1 | name |
| 38493974 | CV954244 | single nucleotide variant | NM_004385.5(VCAN):c.2104G>A (p.Glu702Lys) | not provided [RCV001241030] | uncertain significance | 5 | 83520410 | 83520410 | Human | | name |
| 38497040 | CV954245 | single nucleotide variant | NM_004385.5(VCAN):c.2333A>T (p.Lys778Ile) | Inborn genetic diseases [RCV004679038]|not provided [RCV001242937] | uncertain significance | 5 | 83520639 | 83520639 | Human | 1 | name |
| 38495745 | CV954246 | single nucleotide variant | NM_004385.5(VCAN):c.2614G>A (p.Asp872Asn) | not provided [RCV001242130] | uncertain significance | 5 | 83520920 | 83520920 | Human | | name |
| 126764839 | CV1026797 | single nucleotide variant | NM_004385.5(VCAN):c.4901C>A (p.Ser1634Tyr) | Inborn genetic diseases [RCV003294343]|VCAN-related disorder [RCV003416236]|not provided [RCV001341805] | uncertain significance | 5 | 83537904 | 83537904 | Human | 2 | alternate_id |
| 126744383 | CV1026810 | single nucleotide variant | NM_004385.5(VCAN):c.7283C>T (p.Pro2428Leu) | VCAN-related disorder [RCV003399145]|not provided [RCV001351275] | uncertain significance | 5 | 83540286 | 83540286 | Human | 1 | alternate_id |
| 126727894 | CV1026819 | single nucleotide variant | NM_004385.5(VCAN):c.9863C>T (p.Thr3288Met) | VCAN-related disorder [RCV003416248]|not provided [RCV001348799] | uncertain significance | 5 | 83572543 | 83572543 | Human | 1 | alternate_id |
| 126919158 | CV1043755 | single nucleotide variant | NM_004385.5(VCAN):c.4376C>T (p.Thr1459Met) | Inborn genetic diseases [RCV002548667]|VCAN-related disorder [RCV003399185]|not provided [RCV001373074] | uncertain significance | 5 | 83537379 | 83537379 | Human | 2 | alternate_id |
| 126921525 | CV1043759 | single nucleotide variant | NM_004385.5(VCAN):c.5069A>G (p.Tyr1690Cys) | Inborn genetic diseases [RCV004036889]|VCAN-related disorder [RCV003405610]|not provided [RCV001363595] | uncertain significance | 5 | 83538072 | 83538072 | Human | 2 | alternate_id |
| 127246081 | CV1073017 | single nucleotide variant | NM_004385.5(VCAN):c.2909C>T (p.Ser970Phe) | Inborn genetic diseases [RCV004037746]|VCAN-related disorder [RCV003920870]|not provided [RCV001394017] | likely benign|uncertain significance | 5 | 83521215 | 83521215 | Human | 2 | alternate_id |
| 127277811 | CV1094616 | single nucleotide variant | NM_004385.5(VCAN):c.4361T>C (p.Phe1454Ser) | VCAN-related disorder [RCV004746390]|not provided [RCV001444632] | likely benign | 5 | 83537364 | 83537364 | Human | 1 | alternate_id |
| 127264488 | CV1094628 | single nucleotide variant | NM_004385.5(VCAN):c.6482A>G (p.Lys2161Arg) | Inborn genetic diseases [RCV002555151]|VCAN-related disorder [RCV004746381]|not provided [RCV001428870] | likely benign|uncertain significance | 5 | 83539485 | 83539485 | Human | 2 | alternate_id |
| 127256461 | CV1094632 | single nucleotide variant | NM_004385.5(VCAN):c.8012C>A (p.Thr2671Lys) | Inborn genetic diseases [RCV004038355]|VCAN-related disorder [RCV003908642]|not provided [RCV001437694] | likely benign|uncertain significance | 5 | 83541015 | 83541015 | Human | 2 | alternate_id |
| 127303032 | CV1137105 | single nucleotide variant | NM_004385.5(VCAN):c.3374G>A (p.Arg1125His) | VCAN-related disorder [RCV003908784]|not provided [RCV001499257] | likely benign | 5 | 83521680 | 83521680 | Human | 1 | alternate_id |
| 127307803 | CV1155204 | single nucleotide variant | NM_004385.5(VCAN):c.1243A>G (p.Ile415Val) | Inborn genetic diseases [RCV004037943]|VCAN-related disorder [RCV003940935]|not provided [RCV001517263]|not specified [RCV001699565] | benign|likely benign | 5 | 83519549 | 83519549 | Human | 2 | alternate_id |
| 127307810 | CV1155207 | single nucleotide variant | NM_004385.5(VCAN):c.1400C>T (p.Ser467Phe) | VCAN-related disorder [RCV003940936]|not provided [RCV001517264]|not specified [RCV001699566] | benign | 5 | 83519706 | 83519706 | Human | 1 | alternate_id |
| 127309224 | CV1155209 | single nucleotide variant | NM_004385.5(VCAN):c.1775C>T (p.Thr592Ile) | Inborn genetic diseases [RCV004968199]|VCAN-related disorder [RCV003940942]|not provided [RCV001517807] | benign|likely benign|uncertain significance | 5 | 83520081 | 83520081 | Human | 2 | alternate_id |
| 127307821 | CV1155212 | single nucleotide variant | NM_004385.5(VCAN):c.2666C>T (p.Thr889Ile) | Inborn genetic diseases [RCV004037944]|VCAN-related disorder [RCV003940938]|not provided [RCV001517266]|not specified [RCV001701185] | benign|likely benign | 5 | 83520972 | 83520972 | Human | 2 | alternate_id |
| 151728051 | CV1425335 | single nucleotide variant | NM_004385.5(VCAN):c.4877A>C (p.Gln1626Pro) | VCAN-related disorder [RCV004746511]|not provided [RCV001945757] | uncertain significance | 5 | 83537880 | 83537880 | Human | 1 | alternate_id |
| 151784867 | CV1435272 | single nucleotide variant | NM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu) | VCAN-related disorder [RCV003416584]|not provided [RCV001916217] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 83538905 | 83538905 | Human | 1 | alternate_id |
| 151834364 | CV1446810 | single nucleotide variant | NM_004385.5(VCAN):c.6067G>T (p.Val2023Phe) | VCAN-related disorder [RCV003893086]|not provided [RCV002031125] | uncertain significance | 5 | 83539070 | 83539070 | Human | 1 | alternate_id |
| 151777429 | CV1449590 | single nucleotide variant | NM_004385.5(VCAN):c.3545C>T (p.Ser1182Leu) | VCAN-related disorder [RCV004746578]|not provided [RCV002009421] | uncertain significance | 5 | 83521851 | 83521851 | Human | 1 | alternate_id |
| 151745141 | CV1473450 | single nucleotide variant | NM_004385.5(VCAN):c.6053T>A (p.Val2018Asp) | VCAN-related disorder [RCV003401817]|not provided [RCV001912331] | uncertain significance | 5 | 83539056 | 83539056 | Human | 1 | alternate_id |
| 152157019 | CV1586080 | single nucleotide variant | NM_004385.5(VCAN):c.5442A>T (p.Gln1814His) | VCAN-related disorder [RCV003895953]|not provided [RCV002140283] | likely benign | 5 | 83538445 | 83538445 | Human | 1 | alternate_id |
| 10053218 | CV195956 | single nucleotide variant | NM_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 significance | 5 | 83539770 | 83539770 | Human | 2 | alternate_id |
| 156068023 | CV1975524 | single nucleotide variant | NM_004385.5(VCAN):c.7230G>T (p.Met2410Ile) | Inborn genetic diseases [RCV004965968]|VCAN-related disorder [RCV003395497]|not provided [RCV002591188] | uncertain significance | 5 | 83540233 | 83540233 | Human | 2 | alternate_id |
| 156367672 | CV2021038 | single nucleotide variant | NM_004385.5(VCAN):c.5963G>T (p.Gly1988Val) | Inborn genetic diseases [RCV004681535]|VCAN-related disorder [RCV003395504]|not provided [RCV002721292] | uncertain significance | 5 | 83538966 | 83538966 | Human | 2 | alternate_id |
| 155991204 | CV2049612 | single nucleotide variant | NM_004385.5(VCAN):c.9443C>A (p.Thr3148Lys) | VCAN-related disorder [RCV004725382]|not provided [RCV002819215] | uncertain significance | 5 | 83548034 | 83548034 | Human | 1 | alternate_id |
| 401903015 | CV2797772 | single nucleotide variant | NM_004385.5(VCAN):c.5620G>A (p.Val1874Met) | VCAN-related disorder [RCV003419221] | uncertain significance | 5 | 83538623 | 83538623 | Human | | trait , alternate_id |
| 401923982 | CV2800984 | single nucleotide variant | NM_004385.5(VCAN):c.8194G>A (p.Ala2732Thr) | VCAN-related disorder [RCV003404574] | uncertain significance | 5 | 83541197 | 83541197 | Human | | trait , alternate_id |
| 401907799 | CV2801193 | single nucleotide variant | NM_004385.5(VCAN):c.6868G>C (p.Val2290Leu) | VCAN-related disorder [RCV003397434] | uncertain significance | 5 | 83539871 | 83539871 | Human | | trait , alternate_id |
| 401923880 | CV2803330 | single nucleotide variant | NM_004385.5(VCAN):c.6037G>A (p.Glu2013Lys) | VCAN-related disorder [RCV003404476] | uncertain significance | 5 | 83539040 | 83539040 | Human | | trait , alternate_id |
| 11586028 | CV298238 | single nucleotide variant | NM_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 significance | 5 | 83520237 | 83520237 | Human | 3 | alternate_id |
| 11584009 | CV300553 | single nucleotide variant | NM_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 significance | 5 | 83521400 | 83521400 | Human | 3 | alternate_id |
| 11582453 | CV300585 | single nucleotide variant | NM_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 benign | 5 | 83540492 | 83540492 | Human | 3 | alternate_id |
| 11602833 | CV305070 | single nucleotide variant | NM_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 significance | 5 | 83520848 | 83520848 | Human | 3 | alternate_id |
| 11601348 | CV305072 | single nucleotide variant | NM_004385.5(VCAN):c.3188T>C (p.Leu1063Pro) | VCAN-related disorder [RCV003932459]|Vitreoretinopathy [RCV000334422]|Wagner syndrome [RCV000281765]|not provided [RCV001519644] | benign|likely benign | 5 | 83521494 | 83521494 | Human | 2 | alternate_id |
| 11599157 | CV305083 | single nucleotide variant | NM_004385.5(VCAN):c.7715C>T (p.Ser2572Leu) | VCAN-related disorder [RCV003922564]|Vitreoretinopathy [RCV000263453]|Wagner syndrome [RCV000298761]|not provided [RCV000974512] | benign|likely benign | 5 | 83540718 | 83540718 | Human | 2 | alternate_id |
| 405269529 | CV3201655 | single nucleotide variant | NM_004385.5(VCAN):c.9164T>G (p.Val3055Gly) | VCAN-related disorder [RCV003899563] | uncertain significance | 5 | 83542167 | 83542167 | Human | | trait , alternate_id |
| 408378992 | CV3503988 | single nucleotide variant | NM_004385.5(VCAN):c.8971G>A (p.Val2991Met) | VCAN-related disorder [RCV004728215] | uncertain significance | 5 | 83541974 | 83541974 | Human | | trait , alternate_id |
| 408371029 | CV3504675 | single nucleotide variant | NM_004385.5(VCAN):c.8526G>T (p.Glu2842Asp) | VCAN-related disorder [RCV004724381] | uncertain significance | 5 | 83541529 | 83541529 | Human | | trait , alternate_id |
| 408371158 | CV3504894 | single nucleotide variant | NM_004385.5(VCAN):c.9778T>A (p.Ser3260Thr) | VCAN-related disorder [RCV004724516] | uncertain significance | 5 | 83572458 | 83572458 | Human | | trait , alternate_id |
| 408379785 | CV3505986 | single nucleotide variant | NM_004385.5(VCAN):c.4736C>G (p.Ser1579Cys) | VCAN-related disorder [RCV004728660] | uncertain significance | 5 | 83537739 | 83537739 | Human | | trait , alternate_id |
| 15169577 | CV735245 | single nucleotide variant | NM_004385.5(VCAN):c.4381T>A (p.Leu1461Met) | Inborn genetic diseases [RCV002537580]|VCAN-related disorder [RCV003968301]|not provided [RCV000905086] | likely benign|uncertain significance | 5 | 83537384 | 83537384 | Human | 2 | alternate_id |
| 15169582 | CV735247 | single nucleotide variant | NM_004385.5(VCAN):c.5410G>A (p.Ala1804Thr) | Inborn genetic diseases [RCV002540224]|VCAN-related disorder [RCV003958212]|not provided [RCV000905087] | likely benign|uncertain significance | 5 | 83538413 | 83538413 | Human | 2 | alternate_id |
| 15169594 | CV735252 | single nucleotide variant | NM_004385.5(VCAN):c.8919G>C (p.Gln2973His) | VCAN-related disorder [RCV003968302]|not provided [RCV000905089] | likely benign | 5 | 83541922 | 83541922 | Human | 1 | alternate_id |
| 15138570 | CV765364 | single nucleotide variant | NM_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 significance | 5 | 83520924 | 83520924 | Human | 2 | alternate_id |
| 26888129 | CV831203 | single nucleotide variant | NM_004385.5(VCAN):c.3086G>A (p.Gly1029Glu) | VCAN-related disorder [RCV004746222]|not provided [RCV001057115] | uncertain significance | 5 | 83521392 | 83521392 | Human | 1 | alternate_id |
| 26921905 | CV831219 | single nucleotide variant | NM_004385.5(VCAN):c.6283G>A (p.Ala2095Thr) | Inborn genetic diseases [RCV004031579]|VCAN-related disorder [RCV003433002]|not provided [RCV001050988] | uncertain significance | 5 | 83539286 | 83539286 | Human | 2 | alternate_id |
| 28902659 | CV894801 | single nucleotide variant | NM_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 significance | 5 | 83538492 | 83538492 | Human | 3 | alternate_id |
| 28902857 | CV894806 | single nucleotide variant | NM_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 significance | 5 | 83539652 | 83539652 | Human | 3 | alternate_id |
| 28889930 | CV894824 | single nucleotide variant | NM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser) | VCAN-related disorder [RCV003906269]|Vitreoretinopathy [RCV001152264]|Wagner syndrome [RCV001152265]|not provided [RCV001217413] | benign|likely benign|uncertain significance | 5 | 83572438 | 83572438 | Human | 2 | alternate_id |
| 38461015 | CV944743 | single nucleotide variant | NM_004385.5(VCAN):c.5656G>A (p.Val1886Ile) | Inborn genetic diseases [RCV004963252]|VCAN-related disorder [RCV003945932]|not provided [RCV001229457] | uncertain significance | 5 | 83538659 | 83538659 | Human | 2 | alternate_id |
| 38462298 | CV944757 | single nucleotide variant | NM_004385.5(VCAN):c.8919G>T (p.Gln2973His) | VCAN-related disorder [RCV003953591]|not provided [RCV001229696] | uncertain significance | 5 | 83541922 | 83541922 | Human | 1 | alternate_id |
| 38500044 | CV954260 | single nucleotide variant | NM_004385.5(VCAN):c.8052C>G (p.Asp2684Glu) | Inborn genetic diseases [RCV003284121]|VCAN-related disorder [RCV004746290]|not provided [RCV001245453] | uncertain significance | 5 | 83541055 | 83541055 | Human | 2 | alternate_id |
| 126753663 | CV991139 | single nucleotide variant | NM_004385.5(VCAN):c.9134C>T (p.Thr3045Ile) | Inborn genetic diseases [RCV002545008]|VCAN-related disorder [RCV004746311]|not provided [RCV001307442] | uncertain significance | 5 | 83542137 | 83542137 | Human | 2 | alternate_id |
| 151754931 | CV1340247 | insertion | NM_004385.5(VCAN):c.9265+17_9265+18insGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATCACAACATTG | not provided [RCV001894705] | uncertain significance | 5 | 83542270 | 83542271 | Human | | name |