| 150333784 | CV1169504 | single nucleotide variant | NM_022916.6(VPS33A):c.-66C>T | not provided [RCV001537484] | benign | 12 | 122266474 | 122266474 | Human | | name |
| 150334239 | CV1172366 | deletion | NM_022916.6(VPS33A):c.*184del | not provided [RCV001539905] | benign | 12 | 122232062 | 122232062 | Human | | name |
| 151732055 | CV1436447 | single nucleotide variant | NM_022916.6(VPS33A):c.969+7C>T | not provided [RCV002004883] | uncertain significance | 12 | 122244562 | 122244562 | Human | | name |
| 151794415 | CV1482718 | deletion | NM_022916.6(VPS33A):c.297-2del | not provided [RCV002047407] | uncertain significance | 12 | 122261449 | 122261449 | Human | | name |
| 156307292 | CV2123190 | single nucleotide variant | NM_022916.6(VPS33A):c.600+8C>A | not provided [RCV002962426] | likely benign | 12 | 122250975 | 122250975 | Human | | name |
| 405125944 | CV2886555 | single nucleotide variant | NM_022916.6(VPS33A):c.600+9C>T | not provided [RCV003559570] | likely benign | 12 | 122250974 | 122250974 | Human | | name |
| 405172646 | CV2897719 | single nucleotide variant | NM_022916.6(VPS33A):c.484-5C>T | not provided [RCV003563253] | likely benign | 12 | 122251104 | 122251104 | Human | | name |
| 405008223 | CV3118290 | single nucleotide variant | NM_022916.6(VPS33A):c.169-5C>T | not provided [RCV003828720] | likely benign | 12 | 122263704 | 122263704 | Human | | name |
| 402467012 | CV3177731 | single nucleotide variant | NM_022916.6(VPS33A):c.103-9C>T | not provided [RCV003873169] | likely benign | 12 | 122264208 | 122264208 | Human | | name |
| 597939468 | CV3788546 | single nucleotide variant | NM_022916.6(VPS33A):c.969+7C>G | not provided [RCV005133221] | likely benign | 12 | 122244562 | 122244562 | Human | | name |
| 21074342 | CV796707 | single nucleotide variant | NM_022916.6(VPS33A):c.601-4C>T | not provided [RCV000994999] | uncertain significance | 12 | 122250049 | 122250049 | Human | | name |
| 127310563 | CV1156932 | single nucleotide variant | NM_022916.6(VPS33A):c.296+20T>C | not provided [RCV001518316] | benign | 12 | 122263552 | 122263552 | Human | | name |
| 150406733 | CV1194629 | single nucleotide variant | NM_022916.6(VPS33A):c.601-29C>A | not provided [RCV001572111] | likely benign | 12 | 122250074 | 122250074 | Human | | name |
| 150470459 | CV1219249 | single nucleotide variant | NM_022916.6(VPS33A):c.776-66T>A | not provided [RCV001615001] | benign | 12 | 122244828 | 122244828 | Human | | name |
| 150458208 | CV1269600 | single nucleotide variant | NM_022916.6(VPS33A):c.970-40A>G | not provided [RCV001693140] | benign | 12 | 122242548 | 122242548 | Human | | name |
| 150443443 | CV1277859 | single nucleotide variant | NM_022916.6(VPS33A):c.776-27T>G | not provided [RCV001707002] | benign | 12 | 122244789 | 122244789 | Human | | name |
| 152052412 | CV1523584 | single nucleotide variant | NM_022916.6(VPS33A):c.103-16T>C | not provided [RCV002127401] | benign | 12 | 122264215 | 122264215 | Human | | name |
| 152072168 | CV1544682 | single nucleotide variant | NM_022916.6(VPS33A):c.297-20A>G | not provided [RCV002129752] | benign | 12 | 122261467 | 122261467 | Human | | name |
| 156417312 | CV1913336 | single nucleotide variant | NM_022916.6(VPS33A):c.600+10G>A | not provided [RCV002610651] | likely benign | 12 | 122250973 | 122250973 | Human | | name |
| 156436953 | CV1936778 | single nucleotide variant | NM_022916.6(VPS33A):c.1303-9C>T | not provided [RCV003106479] | likely benign | 12 | 122235932 | 122235932 | Human | | name |
| 156108976 | CV1963570 | single nucleotide variant | NM_022916.6(VPS33A):c.776-19C>G | not provided [RCV002571127] | likely benign | 12 | 122244781 | 122244781 | Human | | name |
| 156218627 | CV1980465 | single nucleotide variant | NM_022916.6(VPS33A):c.484-15C>T | not provided [RCV002626362] | likely benign | 12 | 122251114 | 122251114 | Human | | name |
| 156404703 | CV1993472 | single nucleotide variant | NM_022916.6(VPS33A):c.601-15A>G | not provided [RCV002658117] | likely benign | 12 | 122250060 | 122250060 | Human | | name |
| 156402121 | CV2010038 | single nucleotide variant | NM_022916.6(VPS33A):c.600+16T>A | not provided [RCV002726097] | likely benign | 12 | 122250967 | 122250967 | Human | | name |
| 156089928 | CV2017553 | single nucleotide variant | NM_022916.6(VPS33A):c.1097-7A>G | not provided [RCV002694906] | likely benign | 12 | 122239952 | 122239952 | Human | | name |
| 156003254 | CV2057588 | single nucleotide variant | NM_022916.6(VPS33A):c.103-14C>T | not provided [RCV002819757] | likely benign | 12 | 122264213 | 122264213 | Human | | name |
| 155938884 | CV2110545 | single nucleotide variant | NM_022916.6(VPS33A):c.1302+3G>A | not provided [RCV002904331] | uncertain significance | 12 | 122238584 | 122238584 | Human | | name |
| 156246046 | CV2145429 | single nucleotide variant | NM_022916.6(VPS33A):c.168+20T>C | not provided [RCV003008273] | likely benign | 12 | 122264114 | 122264114 | Human | | name |
| 156363111 | CV2159067 | single nucleotide variant | NM_022916.6(VPS33A):c.103-15T>G | not provided [RCV003031703] | likely benign | 12 | 122264214 | 122264214 | Human | | name |
| 402523842 | CV2896108 | single nucleotide variant | NM_022916.6(VPS33A):c.775+15T>C | not provided [RCV003576060] | likely benign | 12 | 122249856 | 122249856 | Human | | name |
| 405249100 | CV3000529 | single nucleotide variant | NM_022916.6(VPS33A):c.168+18G>A | not provided [RCV003721269] | likely benign | 12 | 122264116 | 122264116 | Human | | name |
| 405140225 | CV3131142 | single nucleotide variant | NM_022916.6(VPS33A):c.484-19T>C | not provided [RCV003839182] | likely benign | 12 | 122251118 | 122251118 | Human | | name |
| 405075268 | CV3156131 | single nucleotide variant | NM_022916.6(VPS33A):c.102+17A>G | not provided [RCV003851189] | likely benign | 12 | 122266290 | 122266290 | Human | | name |
| 405248348 | CV3159299 | single nucleotide variant | NM_022916.6(VPS33A):c.600+19G>A | not provided [RCV003869444] | likely benign | 12 | 122250964 | 122250964 | Human | | name |
| 597931290 | CV3745943 | single nucleotide variant | NM_022916.6(VPS33A):c.484-16G>T | not provided [RCV005075929] | likely benign | 12 | 122251115 | 122251115 | Human | | name |
| 597975020 | CV3798683 | single nucleotide variant | NM_022916.6(VPS33A):c.297-12C>T | not provided [RCV005144271] | likely benign | 12 | 122261459 | 122261459 | Human | | name |
| 597973890 | CV3801614 | single nucleotide variant | NM_022916.6(VPS33A):c.169-19T>C | not provided [RCV005143603] | likely benign | 12 | 122263718 | 122263718 | Human | | name |
| 597873992 | CV3846308 | single nucleotide variant | NM_022916.6(VPS33A):c.600+10G>C | not provided [RCV005177191] | likely benign | 12 | 122250973 | 122250973 | Human | | name |
| 597898757 | CV3854588 | single nucleotide variant | NM_022916.6(VPS33A):c.168+16G>C | not provided [RCV005201695] | likely benign | 12 | 122264118 | 122264118 | Human | | name |
| 597863487 | CV3860719 | single nucleotide variant | NM_022916.6(VPS33A):c.297-11T>G | not provided [RCV005196247] | likely benign | 12 | 122261458 | 122261458 | Human | | name |
| 597865819 | CV3861303 | single nucleotide variant | NM_022916.6(VPS33A):c.1441-8T>C | not provided [RCV005196651] | likely benign | 12 | 122232976 | 122232976 | Human | | name |
| 15121657 | CV775781 | single nucleotide variant | NM_022916.6(VPS33A):c.1165-7T>C | not provided [RCV000940561] | likely benign | 12 | 122238731 | 122238731 | Human | | name |
| 15162368 | CV779761 | single nucleotide variant | NM_022916.6(VPS33A):c.102+10G>A | VPS33A-related disorder [RCV003918432]|not provided [RCV000970258] | benign|likely benign | 12 | 122266297 | 122266297 | Human | 1 | name , trait , alternate_id |
| 126729459 | CV1021000 | duplication | NM_022916.6(VPS33A):c.102+167dup | Mucopolysaccharidosis-plus syndrome [RCV005361694]|not provided [RCV001671271] | pathogenic|benign | 12 | 122266132 | 122266133 | Human | 1 | name |
| 150331832 | CV1163575 | single nucleotide variant | NM_022916.6(VPS33A):c.1440+41G>T | not provided [RCV001527966] | benign | 12 | 122235745 | 122235745 | Human | | name |
| 150336613 | CV1172368 | single nucleotide variant | NM_022916.6(VPS33A):c.483+220C>G | not provided [RCV001541068] | benign | 12 | 122261041 | 122261041 | Human | | name |
| 150507658 | CV1229144 | single nucleotide variant | NM_022916.6(VPS33A):c.1440+23G>A | Mucopolysaccharidosis-plus syndrome [RCV002243343]|not provided [RCV001636015] | benign | 12 | 122235763 | 122235763 | Human | 1 | name |
| 150435182 | CV1233796 | single nucleotide variant | NM_022916.6(VPS33A):c.776-291C>T | not provided [RCV001643923] | benign | 12 | 122245053 | 122245053 | Human | | name |
| 150485398 | CV1250219 | single nucleotide variant | NM_022916.6(VPS33A):c.102+124A>G | not provided [RCV001673832] | benign | 12 | 122266183 | 122266183 | Human | | name |
| 150463823 | CV1252577 | single nucleotide variant | NM_022916.6(VPS33A):c.601-162G>A | not provided [RCV001669900] | benign | 12 | 122250207 | 122250207 | Human | | name |
| 150503215 | CV1257742 | single nucleotide variant | NM_022916.6(VPS33A):c.102+276A>G | VPS33A-related disorder [RCV003984050]|not provided [RCV001677430] | benign | 12 | 122266031 | 122266031 | Human | 1 | name , trait , alternate_id |
| 150461474 | CV1264314 | single nucleotide variant | NM_022916.6(VPS33A):c.601-286C>T | not provided [RCV001682231] | benign | 12 | 122250331 | 122250331 | Human | | name |
| 150499085 | CV1270762 | single nucleotide variant | NM_022916.6(VPS33A):c.970-106C>T | not provided [RCV001689311] | benign | 12 | 122242614 | 122242614 | Human | | name |
| 150476164 | CV1271295 | single nucleotide variant | NM_022916.6(VPS33A):c.102+168G>C | not provided [RCV001696118] | benign | 12 | 122266139 | 122266139 | Human | | name |
| 150454061 | CV1276936 | single nucleotide variant | NM_022916.6(VPS33A):c.970-266C>T | not provided [RCV001708727] | benign | 12 | 122242774 | 122242774 | Human | | name |
| 150521073 | CV1290826 | single nucleotide variant | NM_022916.6(VPS33A):c.102+131T>A | not provided [RCV001732475] | likely benign | 12 | 122266176 | 122266176 | Human | | name |
| 151232963 | CV1317677 | single nucleotide variant | NM_022916.6(VPS33A):c.970-198G>A | not provided [RCV001787443] | likely benign | 12 | 122242706 | 122242706 | Human | | name |
| 152176017 | CV1562168 | single nucleotide variant | NM_022916.6(VPS33A):c.1302+15A>T | not provided [RCV002164157] | likely benign | 12 | 122238572 | 122238572 | Human | | name |
| 152153592 | CV1592857 | single nucleotide variant | NM_022916.6(VPS33A):c.1164+19C>G | not provided [RCV002202351] | likely benign | 12 | 122239859 | 122239859 | Human | | name |
| 152147070 | CV1608098 | single nucleotide variant | NM_022916.6(VPS33A):c.1302+20A>G | not provided [RCV002178883] | likely benign | 12 | 122238567 | 122238567 | Human | | name |
| 152029478 | CV1655885 | single nucleotide variant | NM_022916.6(VPS33A):c.1610-19T>G | not provided [RCV002186178] | likely benign | 12 | 122232446 | 122232446 | Human | | name |
| 155267519 | CV1704967 | single nucleotide variant | NM_022916.6(VPS33A):c.600+134A>G | not provided [RCV002285572] | likely benign | 12 | 122250849 | 122250849 | Human | | name |
| 156377467 | CV2000469 | single nucleotide variant | NM_022916.6(VPS33A):c.1165-12C>T | not provided [RCV002653406] | likely benign | 12 | 122238736 | 122238736 | Human | | name |
| 156309736 | CV2031459 | single nucleotide variant | NM_022916.6(VPS33A):c.1440+14C>T | not provided [RCV002716462] | likely benign | 12 | 122235772 | 122235772 | Human | | name |
| 156212793 | CV2037017 | duplication | NM_022916.6(VPS33A):c.1164+17dup | not provided [RCV002790311] | benign | 12 | 122239860 | 122239861 | Human | | name |
| 156208132 | CV2160294 | single nucleotide variant | NM_022916.6(VPS33A):c.1165-11T>A | not provided [RCV003042229] | likely benign | 12 | 122238735 | 122238735 | Human | | name |
| 156095991 | CV2163373 | single nucleotide variant | NM_022916.6(VPS33A):c.1097-20A>G | not provided [RCV003038393] | likely benign | 12 | 122239965 | 122239965 | Human | | name |
| 405278013 | CV3221682 | deletion | NM_022916.6(VPS33A):c.102+174del | Mucopolysaccharidosis-plus syndrome [RCV005358076]|VPS33A-related disorder [RCV003976287] | likely benign|uncertain significance | 12 | 122266133 | 122266133 | Human | 1 | name , trait , alternate_id |
| 14746522 | CV665430 | single nucleotide variant | NM_022916.6(VPS33A):c.102+154A>C | not provided [RCV000844542] | benign | 12 | 122266153 | 122266153 | Human | | name |
| 150425284 | CV1184638 | single nucleotide variant | NM_022916.6(VPS33A):c.1441-195G>T | not provided [RCV001557804] | likely benign | 12 | 122233163 | 122233163 | Human | | name |
| 150475687 | CV1216702 | single nucleotide variant | NM_022916.6(VPS33A):c.1302+264G>A | not provided [RCV001615995] | benign | 12 | 122238323 | 122238323 | Human | | name |
| 150438189 | CV1237988 | single nucleotide variant | NM_022916.6(VPS33A):c.1440+238C>T | not provided [RCV001644486] | benign | 12 | 122235548 | 122235548 | Human | | name |
| 150491362 | CV1239268 | single nucleotide variant | NM_022916.6(VPS33A):c.1097-307C>T | not provided [RCV001654836] | benign | 12 | 122240252 | 122240252 | Human | | name |
| 150452569 | CV1260411 | deletion | NM_022916.6(VPS33A):c.1610-152del | not provided [RCV001680901] | benign | 12 | 122232579 | 122232579 | Human | | name |
| 150449452 | CV1260824 | deletion | NM_022916.6(VPS33A):c.1441-261del | not provided [RCV001680493] | benign | 12 | 122233229 | 122233229 | Human | | name |
| 150448078 | CV1261916 | single nucleotide variant | NM_022916.6(VPS33A):c.1165-250T>G | not provided [RCV001680301] | benign | 12 | 122238974 | 122238974 | Human | | name |
| 150476403 | CV1271330 | single nucleotide variant | NM_022916.6(VPS33A):c.1164+130A>T | not provided [RCV001696153] | benign | 12 | 122239748 | 122239748 | Human | | name |
| 150474715 | CV1272375 | single nucleotide variant | NM_022916.6(VPS33A):c.1440+276G>T | not provided [RCV001695913] | benign | 12 | 122235510 | 122235510 | Human | | name |
| 150464213 | CV1273267 | single nucleotide variant | NM_022916.6(VPS33A):c.1164+134G>A | not provided [RCV001694024] | benign | 12 | 122239744 | 122239744 | Human | | name |
| 152168101 | CV1524705 | microsatellite | NM_022916.6(VPS33A):c.970-18CT[2] | not provided [RCV002182333] | likely benign | 12 | 122242521 | 122242522 | Human | | name |
| 243053441 | CV2404292 | single nucleotide variant | NM_022916.6(VPS33A):c.1609+150C>G | not provided [RCV003129318] | likely benign | 12 | 122232650 | 122232650 | Human | | name |
| 407425627 | CV3409564 | single nucleotide variant | NM_022916.6(VPS33A):c.484-2379T>C | not provided [RCV004585496] | likely benign | 12 | 122253478 | 122253478 | Human | | name |
| 407425874 | CV3409665 | single nucleotide variant | NM_022916.6(VPS33A):c.484-2406T>C | not provided [RCV004585597] | likely benign | 12 | 122253505 | 122253505 | Human | | name |
| 401932613 | CV2817034 | single nucleotide variant | NM_022916.6(VPS33A):c.1097-1104T>C | not provided [RCV003392161] | likely benign | 12 | 122241049 | 122241049 | Human | | name |
| 150415568 | CV1191350 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[16] | not provided [RCV001568043] | likely benign | 12 | 122238771 | 122238774 | Human | | name |
| 150419953 | CV1198321 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[13] | not provided [RCV001577402] | likely benign | 12 | 122238771 | 122238780 | Human | | name |
| 150513106 | CV1228900 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[20] | not provided [RCV001637742] | benign | 12 | 122238770 | 122238771 | Human | | name |
| 150490813 | CV1239178 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[15] | not provided [RCV001654746] | benign | 12 | 122238771 | 122238776 | Human | | name |
| 150482277 | CV1247428 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[19] | Mucopolysaccharidosis-plus syndrome [RCV002243379]|not provided [RCV001673253] | benign | 12 | 122238770 | 122238771 | Human | | name |
| 150450228 | CV1254088 | microsatellite | NM_022916.6(VPS33A):c.1165-82GT[23] | not provided [RCV001667725] | benign | 12 | 122238770 | 122238771 | Human | | name |
| 150464804 | CV1268500 | microsatellite | NM_022916.6(VPS33A):c.1165-298GT[8] | not provided [RCV001694196] | benign | 12 | 122238997 | 122239006 | Human | | name |
| 150473529 | CV1234295 | microsatellite | NM_022916.6(VPS33A):c.1165-298GT[11] | not provided [RCV001651614] | benign | 12 | 122238997 | 122239000 | Human | | name |
| 150462379 | CV1253365 | microsatellite | NM_022916.6(VPS33A):c.1165-298GT[12] | not provided [RCV001669694] | benign | 12 | 122238997 | 122238998 | Human | | name |
| 152081984 | CV1612346 | single nucleotide variant | NM_022916.6(VPS33A):c.21C>T (p.Tyr7=) | not provided [RCV002130937] | likely benign | 12 | 122266388 | 122266388 | Human | | name |
| 155999495 | CV2168976 | single nucleotide variant | NM_022916.6(VPS33A):c.27A>G (p.Arg9=) | not provided [RCV003017205] | likely benign | 12 | 122266382 | 122266382 | Human | | name |
| 152089093 | CV1580578 | inversion | NM_022916.6(VPS33A):c.296+20_296+21inv | not provided [RCV002093921] | likely benign | 12 | 122263551 | 122263552 | Human | | name |
| 156396385 | CV1980520 | microsatellite | NM_022916.6(VPS33A):c.1165-34ATGTAT[2] | not provided [RCV002605161] | likely benign | 12 | 122238741 | 122238746 | Human | | name |
| 155906862 | CV2007434 | single nucleotide variant | NM_022916.6(VPS33A):c.5C>T (p.Ala2Val) | not provided [RCV002681445] | uncertain significance | 12 | 122266404 | 122266404 | Human | | name |
| 597804226 | CV3626524 | single nucleotide variant | NM_022916.6(VPS33A):c.8C>T (p.Ala3Val) | not specified [RCV004882144] | uncertain significance | 12 | 122266401 | 122266401 | Human | | name |
| 15098253 | CV768918 | single nucleotide variant | NM_022916.6(VPS33A):c.87G>A (p.Lys29=) | not provided [RCV000936238] | likely benign | 12 | 122266322 | 122266322 | Human | | name |
| 152148231 | CV1640227 | single nucleotide variant | NM_022916.6(VPS33A):c.216G>A (p.Pro72=) | not provided [RCV002157764] | likely benign | 12 | 122263652 | 122263652 | Human | | name |
| 155920312 | CV2073675 | single nucleotide variant | NM_022916.6(VPS33A):c.162A>T (p.Leu54=) | not provided [RCV002838287] | likely benign | 12 | 122264140 | 122264140 | Human | | name |
| 156318512 | CV2111821 | single nucleotide variant | NM_022916.6(VPS33A):c.183A>G (p.Glu61=) | not provided [RCV002937599] | likely benign | 12 | 122263685 | 122263685 | Human | | name |
| 405116428 | CV2961649 | single nucleotide variant | NM_022916.6(VPS33A):c.156T>C (p.Tyr52=) | not provided [RCV003670998] | likely benign | 12 | 122264146 | 122264146 | Human | | name |
| 405020773 | CV3139180 | single nucleotide variant | NM_022916.6(VPS33A):c.174T>C (p.His58=) | not provided [RCV003829822] | likely benign | 12 | 122263694 | 122263694 | Human | | name |
| 597887190 | CV3741905 | single nucleotide variant | NM_022916.6(VPS33A):c.144G>T (p.Leu48=) | not provided [RCV005070625] | likely benign | 12 | 122264158 | 122264158 | Human | | name |
| 597909370 | CV3749520 | deletion | NM_022916.6(VPS33A):c.1441-12_1441-9del | not provided [RCV005073368] | likely benign | 12 | 122232977 | 122232980 | Human | | name |
| 597959425 | CV3814990 | single nucleotide variant | NM_022916.6(VPS33A):c.132A>G (p.Gly44=) | not provided [RCV005163116] | likely benign | 12 | 122264170 | 122264170 | Human | | name |
| 15102786 | CV702184 | single nucleotide variant | NM_022916.6(VPS33A):c.282T>C (p.Ala94=) | Mucopolysaccharidosis-plus syndrome [RCV002489342]|not provided [RCV000959352] | benign|likely benign | 12 | 122263586 | 122263586 | Human | 1 | name |
| 151861599 | CV1353338 | single nucleotide variant | NM_022916.6(VPS33A):c.363C>T (p.Cys121=) | not provided [RCV001924068] | likely benign | 12 | 122261381 | 122261381 | Human | | name |
| 151738587 | CV1390046 | single nucleotide variant | NM_022916.6(VPS33A):c.47G>T (p.Arg16Leu) | not provided [RCV001893041]|not specified [RCV004039170] | uncertain significance | 12 | 122266362 | 122266362 | Human | | name |
| 151807648 | CV1477666 | single nucleotide variant | NM_022916.6(VPS33A):c.891T>C (p.Ala297=) | not provided [RCV001953509] | likely benign | 12 | 122244647 | 122244647 | Human | | name |
| 152083485 | CV1525332 | single nucleotide variant | NM_022916.6(VPS33A):c.963A>T (p.Ala321=) | not provided [RCV002131129] | likely benign | 12 | 122244575 | 122244575 | Human | | name |
| 152045661 | CV1539511 | single nucleotide variant | NM_022916.6(VPS33A):c.318G>A (p.Thr106=) | VPS33A-related disorder [RCV003933490]|not provided [RCV002145059] | likely benign | 12 | 122261426 | 122261426 | Human | 1 | name , trait , alternate_id |
| 152163569 | CV1575466 | single nucleotide variant | NM_022916.6(VPS33A):c.519C>T (p.Tyr173=) | not provided [RCV002181358] | likely benign | 12 | 122251064 | 122251064 | Human | | name |
| 152170867 | CV1592616 | single nucleotide variant | NM_022916.6(VPS33A):c.954C>T (p.Ile318=) | not provided [RCV002161912] | likely benign | 12 | 122244584 | 122244584 | Human | | name |
| 152062378 | CV1594487 | single nucleotide variant | NM_022916.6(VPS33A):c.699T>C (p.Asn233=) | not provided [RCV002110273] | likely benign | 12 | 122249947 | 122249947 | Human | | name |
| 152089563 | CV1654693 | single nucleotide variant | NM_022916.6(VPS33A):c.951C>A (p.Ile317=) | not provided [RCV002212535] | likely benign | 12 | 122244587 | 122244587 | Human | | name |
| 152144177 | CV1658091 | single nucleotide variant | NM_022916.6(VPS33A):c.522C>T (p.His174=) | not provided [RCV002219782] | likely benign | 12 | 122251061 | 122251061 | Human | | name |
| 153304533 | CV1687122 | single nucleotide variant | NM_022916.6(VPS33A):c.366A>G (p.Glu122=) | not provided [RCV002262410] | likely benign | 12 | 122261378 | 122261378 | Human | | name |
| 155951417 | CV1878798 | single nucleotide variant | NM_022916.6(VPS33A):c.966C>T (p.Phe322=) | not provided [RCV002511745] | likely benign | 12 | 122244572 | 122244572 | Human | | name |
| 156195834 | CV1912307 | single nucleotide variant | NM_022916.6(VPS33A):c.543C>T (p.Thr181=) | not provided [RCV002595532] | likely benign | 12 | 122251040 | 122251040 | Human | | name |
| 156371750 | CV1916493 | single nucleotide variant | NM_022916.6(VPS33A):c.846G>A (p.Thr282=) | not provided [RCV002603234] | likely benign | 12 | 122244692 | 122244692 | Human | | name |
| 156436763 | CV1940335 | single nucleotide variant | NM_022916.6(VPS33A):c.594C>T (p.Cys198=) | not provided [RCV003106287] | likely benign | 12 | 122250989 | 122250989 | Human | | name |
| 156086985 | CV1953270 | single nucleotide variant | NM_022916.6(VPS33A):c.501T>C (p.Gly167=) | not provided [RCV002570094] | likely benign | 12 | 122251082 | 122251082 | Human | | name |
| 156353655 | CV1962206 | single nucleotide variant | NM_022916.6(VPS33A):c.417G>A (p.Glu139=) | not provided [RCV002581237] | likely benign | 12 | 122261327 | 122261327 | Human | | name |
| 156135638 | CV1962902 | single nucleotide variant | NM_022916.6(VPS33A):c.642A>G (p.Thr214=) | not provided [RCV002572386] | likely benign | 12 | 122250004 | 122250004 | Human | | name |
| 156391297 | CV1964893 | single nucleotide variant | NM_022916.6(VPS33A):c.981T>C (p.Asn327=) | not provided [RCV002583898] | likely benign | 12 | 122242497 | 122242497 | Human | | name |
| 156254220 | CV1981658 | single nucleotide variant | NM_022916.6(VPS33A):c.822C>T (p.Gly274=) | not provided [RCV002645996] | likely benign | 12 | 122244716 | 122244716 | Human | | name |
| 156306101 | CV2013740 | single nucleotide variant | NM_022916.6(VPS33A):c.53C>G (p.Ala18Gly) | not provided [RCV002716285] | uncertain significance | 12 | 122266356 | 122266356 | Human | | name |
| 156015791 | CV2044024 | single nucleotide variant | NM_022916.6(VPS33A):c.534G>A (p.Gly178=) | not provided [RCV002795340] | likely benign | 12 | 122251049 | 122251049 | Human | | name |
| 156222901 | CV2080952 | single nucleotide variant | NM_022916.6(VPS33A):c.720T>C (p.Leu240=) | not provided [RCV002853278] | likely benign | 12 | 122249926 | 122249926 | Human | | name |
| 155951424 | CV2084588 | single nucleotide variant | NM_022916.6(VPS33A):c.334C>T (p.Leu112=) | not provided [RCV002880523] | likely benign | 12 | 122261410 | 122261410 | Human | | name |
| 156263926 | CV2170038 | single nucleotide variant | NM_022916.6(VPS33A):c.948G>A (p.Lys316=) | not provided [RCV003026750] | likely benign | 12 | 122244590 | 122244590 | Human | | name |
| 156400911 | CV2186145 | single nucleotide variant | NM_022916.6(VPS33A):c.924C>T (p.Gly308=) | not provided [RCV003052298] | likely benign | 12 | 122244614 | 122244614 | Human | | name |
| 156157623 | CV2190960 | single nucleotide variant | NM_022916.6(VPS33A):c.816A>G (p.Lys272=) | not provided [RCV003040586] | likely benign | 12 | 122244722 | 122244722 | Human | | name |
| 156067023 | CV2270812 | single nucleotide variant | NM_022916.6(VPS33A):c.91G>A (p.Ala31Thr) | not specified [RCV004131862] | uncertain significance | 12 | 122266318 | 122266318 | Human | | name |
| 401932572 | CV2817035 | single nucleotide variant | NM_022916.6(VPS33A):c.351T>A (p.Arg117=) | not provided [RCV003392162] | likely benign | 12 | 122261393 | 122261393 | Human | | name |
| 402479189 | CV2924942 | single nucleotide variant | NM_022916.6(VPS33A):c.993G>A (p.Val331=) | not provided [RCV003571889] | likely benign | 12 | 122242485 | 122242485 | Human | | name |
| 405063447 | CV2939782 | single nucleotide variant | NM_022916.6(VPS33A):c.537G>A (p.Leu179=) | not provided [RCV003658950] | likely benign | 12 | 122251046 | 122251046 | Human | | name |
| 405221026 | CV3154700 | single nucleotide variant | NM_022916.6(VPS33A):c.843C>T (p.Pro281=) | not provided [RCV003847195] | likely benign | 12 | 122244695 | 122244695 | Human | | name |
| 405094535 | CV3164235 | single nucleotide variant | NM_022916.6(VPS33A):c.918A>G (p.Ala306=) | not provided [RCV003852550] | likely benign | 12 | 122244620 | 122244620 | Human | | name |
| 597946539 | CV3807526 | single nucleotide variant | NM_022916.6(VPS33A):c.567C>T (p.Ile189=) | not provided [RCV005160161] | likely benign | 12 | 122251016 | 122251016 | Human | | name |
| 15162364 | CV713391 | single nucleotide variant | NM_022916.6(VPS33A):c.459C>T (p.Ser153=) | VPS33A-related disorder [RCV003960823]|not provided [RCV000970257] | benign|likely benign | 12 | 122261285 | 122261285 | Human | 1 | name , trait , alternate_id |
| 15151905 | CV724952 | single nucleotide variant | NM_022916.6(VPS33A):c.624G>A (p.Arg208=) | Mucopolysaccharidosis-plus syndrome [RCV002501366]|not provided [RCV000879696] | benign|likely benign | 12 | 122250022 | 122250022 | Human | 1 | name |
| 15142710 | CV738509 | single nucleotide variant | NM_022916.6(VPS33A):c.477A>G (p.Ala159=) | not provided [RCV000899718] | likely benign | 12 | 122261267 | 122261267 | Human | | name |
| 15186108 | CV768917 | single nucleotide variant | NM_022916.6(VPS33A):c.993G>T (p.Val331=) | not provided [RCV000931257] | likely benign | 12 | 122242485 | 122242485 | Human | | name |
| 8627205 | CV82349 | single nucleotide variant | NM_022916.4(VPS33A):c.576C>T (p.Ile192=) | Malignant melanoma [RCV000062428] | not provided | 12 | 122251007 | 122251007 | Human | | name |
| 127300799 | CV1156928 | single nucleotide variant | NM_022916.6(VPS33A):c.1350C>T (p.Ala450=) | not provided [RCV001514378] | benign | 12 | 122235876 | 122235876 | Human | | name |
| 127312188 | CV1156929 | single nucleotide variant | NM_022916.6(VPS33A):c.1047C>T (p.Gly349=) | not provided [RCV001518866] | benign | 12 | 122242431 | 122242431 | Human | | name |
| 151832786 | CV1456066 | single nucleotide variant | NM_022916.6(VPS33A):c.235A>G (p.Ile79Val) | not provided [RCV002050886] | uncertain significance | 12 | 122263633 | 122263633 | Human | | name |
| 152110705 | CV1519565 | single nucleotide variant | NM_022916.6(VPS33A):c.1449G>A (p.Thr483=) | not provided [RCV002153016] | likely benign | 12 | 122232960 | 122232960 | Human | | name |
| 152111855 | CV1550449 | single nucleotide variant | NM_022916.6(VPS33A):c.1110T>C (p.Phe370=) | not provided [RCV002153153] | likely benign | 12 | 122239932 | 122239932 | Human | | name |
| 152042404 | CV1603462 | single nucleotide variant | NM_022916.6(VPS33A):c.1191C>T (p.Ile397=) | VPS33A-related disorder [RCV003923420]|not provided [RCV002071191] | likely benign | 12 | 122238698 | 122238698 | Human | 1 | name , trait , alternate_id |
| 152146809 | CV1635546 | single nucleotide variant | NM_022916.6(VPS33A):c.1224A>G (p.Arg408=) | not provided [RCV002201360] | likely benign | 12 | 122238665 | 122238665 | Human | | name |
| 152146974 | CV1635566 | single nucleotide variant | NM_022916.6(VPS33A):c.1116T>C (p.Asp372=) | not provided [RCV002201380] | likely benign | 12 | 122239926 | 122239926 | Human | | name |
| 152067422 | CV1647178 | single nucleotide variant | NM_022916.6(VPS33A):c.1563C>T (p.Pro521=) | not provided [RCV002129158] | likely benign | 12 | 122232846 | 122232846 | Human | | name |
| 152130803 | CV1647615 | single nucleotide variant | NM_022916.6(VPS33A):c.1650T>C (p.Leu550=) | not provided [RCV002082835] | likely benign | 12 | 122232387 | 122232387 | Human | | name |
| 152154891 | CV1658030 | single nucleotide variant | NM_022916.6(VPS33A):c.1554C>T (p.Leu518=) | not provided [RCV002179998] | likely benign | 12 | 122232855 | 122232855 | Human | | name |
| 156417865 | CV1920602 | single nucleotide variant | NM_022916.6(VPS33A):c.275T>C (p.Ile92Thr) | not provided [RCV002611032] | likely benign | 12 | 122263593 | 122263593 | Human | | name |
| 156205668 | CV1922772 | single nucleotide variant | NM_022916.6(VPS33A):c.208C>G (p.Arg70Gly) | not provided [RCV002643798] | uncertain significance | 12 | 122263660 | 122263660 | Human | | name |
| 156438739 | CV1947355 | single nucleotide variant | NM_022916.6(VPS33A):c.1719A>G (p.Glu573=) | not provided [RCV003108685] | likely benign | 12 | 122232318 | 122232318 | Human | | name |
| 156405723 | CV1953860 | single nucleotide variant | NM_022916.6(VPS33A):c.1401G>A (p.Arg467=) | not provided [RCV002585710] | likely benign | 12 | 122235825 | 122235825 | Human | | name |
| 156083295 | CV1956333 | single nucleotide variant | NM_022916.6(VPS33A):c.208C>T (p.Arg70Cys) | not provided [RCV002573843]|not specified [RCV004064357] | uncertain significance | 12 | 122263660 | 122263660 | Human | | name |
| 156245640 | CV1956954 | single nucleotide variant | NM_022916.6(VPS33A):c.1078T>C (p.Leu360=) | not provided [RCV002576376] | likely benign | 12 | 122242400 | 122242400 | Human | | name |
| 156070530 | CV1959182 | single nucleotide variant | NM_022916.6(VPS33A):c.1725C>T (p.Val575=) | not provided [RCV002569592] | likely benign | 12 | 122232312 | 122232312 | Human | | name |
| 155981034 | CV1972423 | single nucleotide variant | NM_022916.6(VPS33A):c.1200G>A (p.Lys400=) | not provided [RCV002617602] | likely benign | 12 | 122238689 | 122238689 | Human | | name |
| 156414274 | CV1986569 | single nucleotide variant | NM_022916.6(VPS33A):c.209G>A (p.Arg70His) | not provided [RCV002609127] | uncertain significance | 12 | 122263659 | 122263659 | Human | | name |
| 156083999 | CV1992949 | single nucleotide variant | NM_022916.6(VPS33A):c.1120T>C (p.Leu374=) | not provided [RCV002638994] | likely benign | 12 | 122239922 | 122239922 | Human | | name |
| 156174102 | CV2000194 | single nucleotide variant | NM_022916.6(VPS33A):c.1089T>C (p.Asp363=) | not provided [RCV002642813] | likely benign | 12 | 122242389 | 122242389 | Human | | name |
| 156038225 | CV2047767 | single nucleotide variant | NM_022916.6(VPS33A):c.189G>A (p.Met63Ile) | not provided [RCV002781391] | uncertain significance | 12 | 122263679 | 122263679 | Human | | name |
| 156168723 | CV2075429 | single nucleotide variant | NM_022916.6(VPS33A):c.1077A>G (p.Glu359=) | not provided [RCV002851467] | likely benign | 12 | 122242401 | 122242401 | Human | | name |
| 156234184 | CV2085490 | single nucleotide variant | NM_022916.6(VPS33A):c.1083C>A (p.Ile361=) | not provided [RCV002876352] | likely benign | 12 | 122242395 | 122242395 | Human | | name |
| 156391044 | CV2118648 | single nucleotide variant | NM_022916.6(VPS33A):c.1308C>T (p.Tyr436=) | not provided [RCV002943910] | likely benign | 12 | 122235918 | 122235918 | Human | | name |
| 156038143 | CV2124714 | single nucleotide variant | NM_022916.6(VPS33A):c.109G>C (p.Val37Leu) | not provided [RCV002923803] | uncertain significance | 12 | 122264193 | 122264193 | Human | | name |
| 156053580 | CV2137214 | single nucleotide variant | NM_022916.6(VPS33A):c.1452C>T (p.Asp484=) | not provided [RCV002999954] | likely benign | 12 | 122232957 | 122232957 | Human | | name |
| 156286566 | CV2172292 | single nucleotide variant | NM_022916.6(VPS33A):c.1461T>C (p.Tyr487=) | not provided [RCV003027511] | likely benign | 12 | 122232948 | 122232948 | Human | | name |
| 156172975 | CV2188296 | single nucleotide variant | NM_022916.6(VPS33A):c.1770T>C (p.Ala590=) | not provided [RCV003041091] | likely benign | 12 | 122232267 | 122232267 | Human | | name |
| 156057883 | CV2239145 | single nucleotide variant | NM_022916.6(VPS33A):c.238A>G (p.Ile80Val) | not specified [RCV004112135] | uncertain significance | 12 | 122263630 | 122263630 | Human | | name |
| 329390750 | CV2437214 | single nucleotide variant | NM_022916.6(VPS33A):c.214C>A (p.Pro72Thr) | not specified [RCV004256105] | uncertain significance | 12 | 122263654 | 122263654 | Human | | name |
| 401779144 | CV2702278 | single nucleotide variant | NM_022916.6(VPS33A):c.202G>A (p.Gly68Arg) | not specified [RCV004314610] | uncertain significance | 12 | 122263666 | 122263666 | Human | | name |
| 401761418 | CV2702329 | single nucleotide variant | NM_022916.6(VPS33A):c.226G>A (p.Val76Met) | not specified [RCV004316861] | uncertain significance | 12 | 122263642 | 122263642 | Human | | name |
| 405061707 | CV3129594 | single nucleotide variant | NM_022916.6(VPS33A):c.1065C>A (p.Thr355=) | not provided [RCV003832863] | likely benign | 12 | 122242413 | 122242413 | Human | | name |
| 405032288 | CV3130020 | single nucleotide variant | NM_022916.6(VPS33A):c.1653G>T (p.Gly551=) | not provided [RCV003830619] | likely benign | 12 | 122232384 | 122232384 | Human | | name |
| 405127331 | CV3132881 | single nucleotide variant | NM_022916.6(VPS33A):c.1281T>C (p.Tyr427=) | not provided [RCV003838044] | likely benign | 12 | 122238608 | 122238608 | Human | | name |
| 405283001 | CV3218448 | single nucleotide variant | NM_022916.6(VPS33A):c.1482G>A (p.Pro494=) | VPS33A-related disorder [RCV003957247] | likely benign | 12 | 122232927 | 122232927 | Human | | name , trait , alternate_id |
| 407532574 | CV3491394 | single nucleotide variant | NM_022916.6(VPS33A):c.215C>T (p.Pro72Leu) | not specified [RCV004683219] | uncertain significance | 12 | 122263653 | 122263653 | Human | | name |
| 597922076 | CV3738459 | single nucleotide variant | NM_022916.6(VPS33A):c.1513C>A (p.Arg505=) | not provided [RCV005074866] | likely benign | 12 | 122232896 | 122232896 | Human | | name |
| 597830821 | CV3739479 | single nucleotide variant | NM_022916.6(VPS33A):c.1242C>T (p.Ser414=) | not provided [RCV005062369] | likely benign | 12 | 122238647 | 122238647 | Human | | name |
| 597830678 | CV3743216 | single nucleotide variant | NM_022916.6(VPS33A):c.1365G>A (p.Pro455=) | not provided [RCV005062224] | likely benign | 12 | 122235861 | 122235861 | Human | | name |
| 597861264 | CV3770201 | single nucleotide variant | NM_022916.6(VPS33A):c.1560G>A (p.Gly520=) | not provided [RCV005106053] | likely benign | 12 | 122232849 | 122232849 | Human | | name |
| 597959771 | CV3794217 | single nucleotide variant | NM_022916.6(VPS33A):c.1731C>G (p.Ala577=) | not provided [RCV005138330] | likely benign | 12 | 122232306 | 122232306 | Human | | name |
| 597958558 | CV3814838 | single nucleotide variant | NM_022916.6(VPS33A):c.1734C>G (p.Thr578=) | not provided [RCV005162963] | likely benign | 12 | 122232303 | 122232303 | Human | | name |
| 597831628 | CV3830825 | single nucleotide variant | NM_022916.6(VPS33A):c.1044G>A (p.Arg348=) | not provided [RCV005170223] | likely benign | 12 | 122242434 | 122242434 | Human | | name |
| 598241543 | CV3925970 | single nucleotide variant | NM_022916.6(VPS33A):c.211T>G (p.Leu71Val) | not specified [RCV005296948] | uncertain significance | 12 | 122263657 | 122263657 | Human | | name |
| 15193727 | CV702185 | single nucleotide variant | NM_022916.6(VPS33A):c.274A>C (p.Ile92Leu) | VPS33A-related disorder [RCV003943074]|not provided [RCV000955454] | benign|likely benign | 12 | 122263594 | 122263594 | Human | 1 | name , trait , alternate_id |
| 15180250 | CV724951 | single nucleotide variant | NM_022916.6(VPS33A):c.1125C>T (p.Thr375=) | not provided [RCV000885482] | likely benign | 12 | 122239917 | 122239917 | Human | | name |
| 15141433 | CV753168 | single nucleotide variant | NM_022916.6(VPS33A):c.1665C>T (p.Phe555=) | not provided [RCV000921840] | likely benign | 12 | 122232372 | 122232372 | Human | | name |
| 15153641 | CV753169 | single nucleotide variant | NM_022916.6(VPS33A):c.1458G>A (p.Ser486=) | not provided [RCV000924098] | likely benign | 12 | 122232951 | 122232951 | Human | | name |
| 15158528 | CV753170 | single nucleotide variant | NM_022916.6(VPS33A):c.1324T>C (p.Leu442=) | not provided [RCV000925089] | likely benign | 12 | 122235902 | 122235902 | Human | | name |
| 15142293 | CV768914 | single nucleotide variant | NM_022916.6(VPS33A):c.1617G>A (p.Pro539=) | not provided [RCV000944053] | likely benign | 12 | 122232420 | 122232420 | Human | | name |
| 15177415 | CV768915 | single nucleotide variant | NM_022916.6(VPS33A):c.1225C>T (p.Leu409=) | not provided [RCV000929150] | likely benign | 12 | 122238664 | 122238664 | Human | | name |
| 15186375 | CV768916 | single nucleotide variant | NM_022916.6(VPS33A):c.1161T>C (p.Asp387=) | not provided [RCV000931334] | likely benign | 12 | 122239881 | 122239881 | Human | | name |
| 127300805 | CV1156930 | single nucleotide variant | NM_022916.6(VPS33A):c.766A>C (p.Ile256Leu) | not provided [RCV001514379] | benign | 12 | 122249880 | 122249880 | Human | | name |
| 127312428 | CV1156931 | single nucleotide variant | NM_022916.6(VPS33A):c.346C>T (p.Arg116Cys) | not provided [RCV001518955] | benign | 12 | 122261398 | 122261398 | Human | | name |
| 150336179 | CV1172367 | microsatellite | NM_022916.6(VPS33A):c.1164+131_1164+132del | not provided [RCV001540877] | benign | 12 | 122239746 | 122239747 | Human | | name |
| 151797312 | CV1352584 | single nucleotide variant | NM_022916.6(VPS33A):c.329A>G (p.His110Arg) | not provided [RCV001877062] | uncertain significance | 12 | 122261415 | 122261415 | Human | | name |
| 151835527 | CV1374755 | single nucleotide variant | NM_022916.6(VPS33A):c.658A>G (p.Ile220Val) | not provided [RCV001920932]|not specified [RCV004043473] | likely benign|uncertain significance | 12 | 122249988 | 122249988 | Human | | name |
| 151803719 | CV1375545 | single nucleotide variant | NM_022916.6(VPS33A):c.557A>G (p.Tyr186Cys) | not provided [RCV001953165] | uncertain significance | 12 | 122251026 | 122251026 | Human | | name |
| 151736182 | CV1387694 | single nucleotide variant | NM_022916.6(VPS33A):c.613A>C (p.Met205Leu) | not provided [RCV002005327] | uncertain significance | 12 | 122250033 | 122250033 | Human | | name |
| 151779172 | CV1392526 | single nucleotide variant | NM_022916.6(VPS33A):c.379G>T (p.Asp127Tyr) | not provided [RCV001897078] | uncertain significance | 12 | 122261365 | 122261365 | Human | | name |
| 151870593 | CV1395609 | single nucleotide variant | NM_022916.6(VPS33A):c.509C>T (p.Thr170Met) | not provided [RCV002035612] | uncertain significance | 12 | 122251074 | 122251074 | Human | | name |
| 151820852 | CV1398281 | single nucleotide variant | NM_022916.6(VPS33A):c.599G>C (p.Arg200Pro) | Mucopolysaccharidosis-plus syndrome [RCV002284227]|not provided [RCV002013360] | likely pathogenic|uncertain significance | 12 | 122250984 | 122250984 | Human | 1 | name |
| 151827322 | CV1400547 | single nucleotide variant | NM_022916.6(VPS33A):c.966C>G (p.Phe322Leu) | not provided [RCV001976300] | uncertain significance | 12 | 122244572 | 122244572 | Human | | name |
| 151862794 | CV1409142 | single nucleotide variant | NM_022916.6(VPS33A):c.521A>T (p.His174Leu) | not provided [RCV001905514] | uncertain significance | 12 | 122251062 | 122251062 | Human | | name |
| 151812942 | CV1413792 | duplication | NM_022916.6(VPS33A):c.1376dup (p.Arg460fs) | not provided [RCV002029149] | uncertain significance | 12 | 122235849 | 122235850 | Human | | name |
| 151763985 | CV1418509 | single nucleotide variant | NM_022916.6(VPS33A):c.647G>A (p.Ser216Asn) | not provided [RCV001928848] | uncertain significance | 12 | 122249999 | 122249999 | Human | | name |
| 151760470 | CV1435021 | single nucleotide variant | NM_022916.6(VPS33A):c.759T>G (p.Ile253Met) | not provided [RCV001913918] | uncertain significance | 12 | 122249887 | 122249887 | Human | | name |
| 151821784 | CV1453654 | single nucleotide variant | NM_022916.6(VPS33A):c.827G>T (p.Gly276Val) | not provided [RCV001879281] | uncertain significance | 12 | 122244711 | 122244711 | Human | | name |
| 151847036 | CV1461583 | single nucleotide variant | NM_022916.6(VPS33A):c.916G>A (p.Ala306Thr) | not provided [RCV001936846] | uncertain significance | 12 | 122244622 | 122244622 | Human | | name |
| 151775079 | CV1463491 | single nucleotide variant | NM_022916.6(VPS33A):c.523G>A (p.Ala175Thr) | not provided [RCV001896721]|not specified [RCV004041758] | uncertain significance | 12 | 122251060 | 122251060 | Human | | name |
| 151809475 | CV1476595 | single nucleotide variant | NM_022916.6(VPS33A):c.488G>A (p.Cys163Tyr) | not provided [RCV001878116] | uncertain significance | 12 | 122251095 | 122251095 | Human | | name |
| 151721746 | CV1489568 | single nucleotide variant | NM_022916.6(VPS33A):c.820G>C (p.Gly274Arg) | not provided [RCV001891206] | uncertain significance | 12 | 122244718 | 122244718 | Human | | name |
| 151787969 | CV1510124 | single nucleotide variant | NM_022916.6(VPS33A):c.667G>A (p.Val223Ile) | not provided [RCV001916527] | uncertain significance | 12 | 122249979 | 122249979 | Human | | name |
| 155673774 | CV1774269 | single nucleotide variant | NM_022916.6(VPS33A):c.721G>T (p.Ala241Ser) | not provided [RCV002297670] | uncertain significance | 12 | 122249925 | 122249925 | Human | | name |
| 155951218 | CV1899822 | single nucleotide variant | NM_022916.6(VPS33A):c.991G>A (p.Val331Met) | not provided [RCV003095342] | uncertain significance | 12 | 122242487 | 122242487 | Human | | name |
| 156379561 | CV1903386 | single nucleotide variant | NM_022916.6(VPS33A):c.317C>T (p.Thr106Met) | not provided [RCV003093164] | uncertain significance | 12 | 122261427 | 122261427 | Human | | name |
| 156018386 | CV1914728 | single nucleotide variant | NM_022916.6(VPS33A):c.737A>G (p.Tyr246Cys) | not provided [RCV002636585]|not specified [RCV004070496] | uncertain significance | 12 | 122249909 | 122249909 | Human | | name |
| 156438865 | CV1947784 | single nucleotide variant | NM_022916.6(VPS33A):c.509C>A (p.Thr170Lys) | not provided [RCV003108813] | likely benign | 12 | 122251074 | 122251074 | Human | | name |
| 156300417 | CV1955532 | single nucleotide variant | NM_022916.6(VPS33A):c.706T>A (p.Leu236Ile) | not provided [RCV002578203]|not specified [RCV004877737] | uncertain significance | 12 | 122249940 | 122249940 | Human | | name |
| 156311858 | CV1969682 | single nucleotide variant | NM_022916.6(VPS33A):c.349C>T (p.Arg117Cys) | not provided [RCV002578739] | uncertain significance | 12 | 122261395 | 122261395 | Human | | name |
| 156063589 | CV1975283 | single nucleotide variant | NM_022916.6(VPS33A):c.631A>G (p.Arg211Gly) | not provided [RCV002591056] | uncertain significance | 12 | 122250015 | 122250015 | Human | | name |
| 156411623 | CV1976421 | single nucleotide variant | NM_022916.6(VPS33A):c.811A>G (p.Lys271Glu) | not provided [RCV002587552] | uncertain significance | 12 | 122244727 | 122244727 | Human | | name |
| 156222617 | CV2009250 | single nucleotide variant | NM_022916.6(VPS33A):c.916G>T (p.Ala306Ser) | not provided [RCV002701062] | uncertain significance | 12 | 122244622 | 122244622 | Human | | name |
| 156079651 | CV2011944 | single nucleotide variant | NM_022916.6(VPS33A):c.887A>G (p.Tyr296Cys) | not provided [RCV002705948] | uncertain significance | 12 | 122244651 | 122244651 | Human | | name |
| 156050558 | CV2060031 | single nucleotide variant | NM_022916.6(VPS33A):c.541A>G (p.Thr181Ala) | not provided [RCV002796753] | uncertain significance | 12 | 122251042 | 122251042 | Human | | name |
| 156209135 | CV2074153 | single nucleotide variant | NM_022916.6(VPS33A):c.398C>T (p.Ser133Phe) | not provided [RCV002829229] | uncertain significance | 12 | 122261346 | 122261346 | Human | | name |
| 156357745 | CV2126193 | single nucleotide variant | NM_022916.6(VPS33A):c.608C>A (p.Ala203Asp) | not provided [RCV002966780] | uncertain significance | 12 | 122250038 | 122250038 | Human | | name |
| 156153078 | CV2131887 | single nucleotide variant | NM_022916.6(VPS33A):c.931C>T (p.Leu311Phe) | not provided [RCV002982722] | uncertain significance | 12 | 122244607 | 122244607 | Human | | name |
| 156158829 | CV2147212 | single nucleotide variant | NM_022916.6(VPS33A):c.422G>A (p.Ser141Asn) | not provided [RCV003023116] | uncertain significance | 12 | 122261322 | 122261322 | Human | | name |
| 155940334 | CV2157962 | single nucleotide variant | NM_022916.6(VPS33A):c.340G>T (p.Val114Leu) | not provided [RCV003014223] | uncertain significance | 12 | 122261404 | 122261404 | Human | | name |
| 156235907 | CV2158082 | single nucleotide variant | NM_022916.6(VPS33A):c.484G>A (p.Glu162Lys) | not provided [RCV003025824] | uncertain significance | 12 | 122251099 | 122251099 | Human | | name |
| 156255884 | CV2325813 | single nucleotide variant | NM_022916.6(VPS33A):c.821G>A (p.Gly274Asp) | not provided [RCV004790436]|not specified [RCV004173696] | uncertain significance | 12 | 122244717 | 122244717 | Human | | name |
| 329399296 | CV2436579 | single nucleotide variant | NM_022916.6(VPS33A):c.994G>C (p.Gly332Arg) | not specified [RCV004253731] | uncertain significance | 12 | 122242484 | 122242484 | Human | | name |
| 401764689 | CV2705207 | single nucleotide variant | NM_022916.6(VPS33A):c.800A>G (p.Lys267Arg) | not specified [RCV004311912] | uncertain significance | 12 | 122244738 | 122244738 | Human | | name |
| 401858509 | CV2774329 | single nucleotide variant | NM_022916.6(VPS33A):c.480C>A (p.Phe160Leu) | not specified [RCV004347682] | uncertain significance | 12 | 122261264 | 122261264 | Human | | name |
| 405038289 | CV3067688 | single nucleotide variant | NM_022916.6(VPS33A):c.845C>T (p.Thr282Met) | not provided [RCV003739712] | uncertain significance | 12 | 122244693 | 122244693 | Human | | name |
| 405292368 | CV3192447 | duplication | NM_022916.6(VPS33A):c.484-2453_484-2452dup | VPS33A-related disorder [RCV003929712] | benign | 12 | 122253550 | 122253551 | Human | | name , trait , alternate_id |
| 405293486 | CV3214210 | deletion | NM_022916.6(VPS33A):c.484-2454_484-2452del | VPS33A-related disorder [RCV003931914] | likely benign | 12 | 122253551 | 122253553 | Human | | name , trait , alternate_id |
| 405811454 | CV3342078 | single nucleotide variant | NM_022916.6(VPS33A):c.340G>A (p.Val114Met) | not specified [RCV004482791] | uncertain significance | 12 | 122261404 | 122261404 | Human | | name |
| 407532570 | CV3491390 | single nucleotide variant | NM_022916.6(VPS33A):c.530A>C (p.Lys177Thr) | not specified [RCV004683215] | uncertain significance | 12 | 122251053 | 122251053 | Human | | name |
| 596940207 | CV3550833 | single nucleotide variant | NM_022916.6(VPS33A):c.559G>A (p.Gly187Arg) | not provided [RCV004814733] | uncertain significance | 12 | 122251024 | 122251024 | Human | | name |
| 597698932 | CV3626525 | single nucleotide variant | NM_022916.6(VPS33A):c.791C>T (p.Pro264Leu) | not specified [RCV004885460] | uncertain significance | 12 | 122244747 | 122244747 | Human | | name |
| 597698948 | CV3626527 | single nucleotide variant | NM_022916.6(VPS33A):c.823G>A (p.Asp275Asn) | not specified [RCV004885462] | uncertain significance | 12 | 122244715 | 122244715 | Human | | name |
| 597972737 | CV3790309 | single nucleotide variant | NM_022916.6(VPS33A):c.558T>G (p.Tyr186Ter) | not provided [RCV005142732] | uncertain significance | 12 | 122251025 | 122251025 | Human | | name |
| 598217475 | CV3925967 | single nucleotide variant | NM_022916.6(VPS33A):c.476C>T (p.Ala159Val) | not specified [RCV005293039] | uncertain significance | 12 | 122261268 | 122261268 | Human | | name |
| 598241547 | CV3925971 | single nucleotide variant | NM_022916.6(VPS33A):c.743G>C (p.Gly248Ala) | not specified [RCV005296949] | uncertain significance | 12 | 122249903 | 122249903 | Human | | name |
| 21074343 | CV796708 | single nucleotide variant | NM_022916.6(VPS33A):c.340G>C (p.Val114Leu) | not provided [RCV000995000] | uncertain significance | 12 | 122261404 | 122261404 | Human | | name |
| 126725228 | CV1017576 | single nucleotide variant | NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu) | Mucopolysaccharidosis-plus syndrome [RCV001331269] | uncertain significance | 12 | 122232952 | 122232952 | Human | 1 | name |
| 126725225 | CV1017577 | single nucleotide variant | NM_022916.6(VPS33A):c.1420A>G (p.Met474Val) | Mucopolysaccharidosis-plus syndrome [RCV001331268] | uncertain significance | 12 | 122235806 | 122235806 | Human | 1 | name |
| 151804621 | CV1371841 | single nucleotide variant | NM_022916.6(VPS33A):c.1243G>A (p.Val415Met) | not provided [RCV001953242]|not specified [RCV004043210] | uncertain significance | 12 | 122238646 | 122238646 | Human | | name |
| 151818897 | CV1385791 | single nucleotide variant | NM_022916.6(VPS33A):c.1514G>A (p.Arg505Gln) | not provided [RCV002013176] | uncertain significance | 12 | 122232895 | 122232895 | Human | | name |
| 151800912 | CV1413976 | single nucleotide variant | NM_022916.6(VPS33A):c.1321A>G (p.Ile441Val) | not provided [RCV002047969] | uncertain significance | 12 | 122235905 | 122235905 | Human | | name |
| 151722692 | CV1414050 | single nucleotide variant | NM_022916.6(VPS33A):c.1562C>G (p.Pro521Arg) | not provided [RCV002020409] | uncertain significance | 12 | 122232847 | 122232847 | Human | | name |
| 151772111 | CV1427548 | single nucleotide variant | NM_022916.6(VPS33A):c.1426G>A (p.Asp476Asn) | not provided [RCV001915082] | uncertain significance | 12 | 122235800 | 122235800 | Human | | name |
| 151800096 | CV1430772 | single nucleotide variant | NM_022916.6(VPS33A):c.1192G>A (p.Ala398Thr) | not provided [RCV001877294]|not specified [RCV005298900] | uncertain significance | 12 | 122238697 | 122238697 | Human | | name |
| 151716125 | CV1434953 | single nucleotide variant | NM_022916.6(VPS33A):c.1297C>A (p.Leu433Ile) | not provided [RCV001890355] | uncertain significance | 12 | 122238592 | 122238592 | Human | | name |
| 151886804 | CV1445438 | single nucleotide variant | NM_022916.6(VPS33A):c.1433A>T (p.Asn478Ile) | not provided [RCV002000755] | uncertain significance | 12 | 122235793 | 122235793 | Human | | name |
| 151818193 | CV1449781 | single nucleotide variant | NM_022916.6(VPS33A):c.1453A>G (p.Ile485Val) | not provided [RCV001878955] | uncertain significance | 12 | 122232956 | 122232956 | Human | | name |
| 151802977 | CV1462480 | single nucleotide variant | NM_022916.6(VPS33A):c.1729G>A (p.Ala577Thr) | not provided [RCV002028271] | uncertain significance | 12 | 122232308 | 122232308 | Human | | name |
| 151838598 | CV1501414 | single nucleotide variant | NM_022916.6(VPS33A):c.1627C>T (p.Arg543Ter) | not provided [RCV001977419] | uncertain significance | 12 | 122232410 | 122232410 | Human | | name |
| 156030746 | CV1910744 | single nucleotide variant | NM_022916.6(VPS33A):c.1387T>C (p.Tyr463His) | not provided [RCV002619842] | uncertain significance | 12 | 122235839 | 122235839 | Human | | name |
| 156377166 | CV1913876 | single nucleotide variant | NM_022916.6(VPS33A):c.1321A>C (p.Ile441Leu) | not provided [RCV002603677] | uncertain significance | 12 | 122235905 | 122235905 | Human | | name |
| 156298129 | CV1919799 | single nucleotide variant | NM_022916.6(VPS33A):c.1549A>C (p.Ile517Leu) | not provided [RCV002599040]|not specified [RCV004068876] | uncertain significance | 12 | 122232860 | 122232860 | Human | | name |
| 156395023 | CV1927767 | single nucleotide variant | NM_022916.6(VPS33A):c.1205C>T (p.Ser402Leu) | not provided [RCV002654827] | uncertain significance | 12 | 122238684 | 122238684 | Human | | name |
| 156260274 | CV1960615 | single nucleotide variant | NM_022916.6(VPS33A):c.1243G>T (p.Val415Leu) | not provided [RCV002576823] | uncertain significance | 12 | 122238646 | 122238646 | Human | | name |
| 156281718 | CV1967967 | single nucleotide variant | NM_022916.6(VPS33A):c.1313A>G (p.Tyr438Cys) | not provided [RCV002598416] | uncertain significance | 12 | 122235913 | 122235913 | Human | | name |
| 156073172 | CV1972082 | single nucleotide variant | NM_022916.6(VPS33A):c.1119A>T (p.Lys373Asn) | not provided [RCV002591333] | uncertain significance | 12 | 122239923 | 122239923 | Human | | name |
| 156241654 | CV1973234 | single nucleotide variant | NM_022916.6(VPS33A):c.1351G>A (p.Gly451Ser) | not provided [RCV002597166] | uncertain significance | 12 | 122235875 | 122235875 | Human | | name |
| 156241422 | CV2028359 | single nucleotide variant | NM_022916.6(VPS33A):c.1676C>T (p.Ala559Val) | not provided [RCV002745674] | uncertain significance | 12 | 122232361 | 122232361 | Human | | name |
| 156011372 | CV2039229 | single nucleotide variant | NM_022916.6(VPS33A):c.1333C>A (p.His445Asn) | not provided [RCV002770561]|not specified [RCV004064681] | uncertain significance | 12 | 122235893 | 122235893 | Human | | name |
| 155998494 | CV2045405 | single nucleotide variant | NM_022916.6(VPS33A):c.1339C>A (p.Leu447Met) | not provided [RCV002756084]|not specified [RCV005301182] | uncertain significance | 12 | 122235887 | 122235887 | Human | | name |
| 156126801 | CV2046859 | single nucleotide variant | NM_022916.6(VPS33A):c.1448C>T (p.Thr483Met) | not provided [RCV002800453] | uncertain significance | 12 | 122232961 | 122232961 | Human | | name |
| 156292078 | CV2047279 | single nucleotide variant | NM_022916.6(VPS33A):c.1562C>T (p.Pro521Leu) | not provided [RCV002770814] | uncertain significance | 12 | 122232847 | 122232847 | Human | | name |
| 156272623 | CV2067277 | single nucleotide variant | NM_022916.6(VPS33A):c.1740A>T (p.Lys580Asn) | not provided [RCV002856105] | uncertain significance | 12 | 122232297 | 122232297 | Human | | name |
| 156098654 | CV2103043 | single nucleotide variant | NM_022916.6(VPS33A):c.1533C>G (p.Ile511Met) | not provided [RCV002913317]|not specified [RCV005301198] | uncertain significance | 12 | 122232876 | 122232876 | Human | | name |
| 155998276 | CV2122711 | single nucleotide variant | NM_022916.6(VPS33A):c.1783C>A (p.Pro595Thr) | not provided [RCV002975057] | uncertain significance | 12 | 122232254 | 122232254 | Human | | name |
| 156006006 | CV2127397 | single nucleotide variant | NM_022916.6(VPS33A):c.1126G>A (p.Val376Met) | not provided [RCV002948023]|not specified [RCV004067246] | uncertain significance | 12 | 122239916 | 122239916 | Human | | name |
| 156158680 | CV2140619 | single nucleotide variant | NM_022916.6(VPS33A):c.1456T>C (p.Ser486Pro) | not provided [RCV003004980] | uncertain significance | 12 | 122232953 | 122232953 | Human | | name |
| 156313009 | CV2256953 | single nucleotide variant | NM_022916.6(VPS33A):c.1058A>G (p.Asn353Ser) | not specified [RCV004121146] | uncertain significance | 12 | 122242420 | 122242420 | Human | | name |
| 401728010 | CV2685734 | single nucleotide variant | NM_022916.6(VPS33A):c.1364C>T (p.Pro455Leu) | not specified [RCV004294729] | uncertain significance | 12 | 122235862 | 122235862 | Human | | name |
| 401720710 | CV2702067 | single nucleotide variant | NM_022916.6(VPS33A):c.1124C>G (p.Thr375Ser) | not specified [RCV004320643] | uncertain significance | 12 | 122239918 | 122239918 | Human | | name |
| 401890430 | CV2778707 | single nucleotide variant | NM_022916.6(VPS33A):c.1766A>G (p.Glu589Gly) | not specified [RCV004346621] | uncertain significance | 12 | 122232271 | 122232271 | Human | | name |
| 402495216 | CV3004871 | single nucleotide variant | NM_022916.6(VPS33A):c.1129G>A (p.Glu377Lys) | not provided [RCV003687842] | uncertain significance | 12 | 122239913 | 122239913 | Human | | name |
| 405811451 | CV3342076 | single nucleotide variant | NM_022916.6(VPS33A):c.1049C>T (p.Ser350Leu) | not specified [RCV004482789] | uncertain significance | 12 | 122242429 | 122242429 | Human | | name |
| 405811452 | CV3342077 | single nucleotide variant | NM_022916.6(VPS33A):c.1481C>T (p.Pro494Leu) | not specified [RCV004482790] | uncertain significance | 12 | 122232928 | 122232928 | Human | | name |
| 407532571 | CV3491391 | single nucleotide variant | NM_022916.6(VPS33A):c.1748A>G (p.Asn583Ser) | not specified [RCV004683216] | uncertain significance | 12 | 122232289 | 122232289 | Human | | name |
| 407532573 | CV3491393 | single nucleotide variant | NM_022916.6(VPS33A):c.1444C>A (p.Pro482Thr) | not specified [RCV004683218] | uncertain significance | 12 | 122232965 | 122232965 | Human | | name |
| 407532575 | CV3491395 | single nucleotide variant | NM_022916.6(VPS33A):c.1393A>G (p.Thr465Ala) | not specified [RCV004683220] | uncertain significance | 12 | 122235833 | 122235833 | Human | | name |
| 407464997 | CV3491396 | single nucleotide variant | NM_022916.6(VPS33A):c.1412G>A (p.Arg471His) | not specified [RCV004688656] | uncertain significance | 12 | 122235814 | 122235814 | Human | | name |
| 12741516 | CV361893 | single nucleotide variant | NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) | Mucopolysaccharidosis-plus syndrome [RCV000415625] | pathogenic|likely pathogenic | 12 | 122232917 | 122232917 | Human | 1 | name |
| 597698940 | CV3626526 | single nucleotide variant | NM_022916.6(VPS33A):c.1727T>C (p.Ile576Thr) | not specified [RCV004885461] | uncertain significance | 12 | 122232310 | 122232310 | Human | | name |
| 597804228 | CV3626528 | single nucleotide variant | NM_022916.6(VPS33A):c.1666G>A (p.Ala556Thr) | not specified [RCV004882145] | uncertain significance | 12 | 122232371 | 122232371 | Human | | name |
| 597881283 | CV3826501 | single nucleotide variant | NM_022916.6(VPS33A):c.1002C>G (p.Ile334Met) | not provided [RCV005178198] | uncertain significance | 12 | 122242476 | 122242476 | Human | | name |
| 598241521 | CV3925965 | single nucleotide variant | NM_022916.6(VPS33A):c.1483C>T (p.Leu495Phe) | not specified [RCV005296945] | uncertain significance | 12 | 122232926 | 122232926 | Human | | name |
| 598241528 | CV3925966 | single nucleotide variant | NM_022916.6(VPS33A):c.1373G>C (p.Gly458Ala) | not specified [RCV005296946] | uncertain significance | 12 | 122235853 | 122235853 | Human | | name |
| 598217483 | CV3925968 | single nucleotide variant | NM_022916.6(VPS33A):c.1045G>C (p.Gly349Arg) | not specified [RCV005293040] | uncertain significance | 12 | 122242433 | 122242433 | Human | | name |
| 15193722 | CV702183 | single nucleotide variant | NM_022916.6(VPS33A):c.1318C>T (p.His440Tyr) | not provided [RCV000955453] | likely benign|conflicting interpretations of pathogenicity | 12 | 122235908 | 122235908 | Human | | name |
| 15117466 | CV753171 | single nucleotide variant | NM_022916.6(VPS33A):c.1069A>G (p.Ile357Val) | not provided [RCV000917799] | likely benign | 12 | 122242409 | 122242409 | Human | | name |
| 405872203 | CV3398308 | duplication | NM_022916.6(VPS33A):c.1097-1191_1097-1190dup | not provided [RCV004575309] | likely benign | 12 | 122241134 | 122241135 | Human | | name |