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


310 records found for search term Vps33a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150333784CV1169504single nucleotide variantNM_022916.6(VPS33A):c.-66C>Tnot provided [RCV001537484]benign12122266474122266474Humanname
150334239CV1172366deletionNM_022916.6(VPS33A):c.*184delnot provided [RCV001539905]benign12122232062122232062Humanname
151732055CV1436447single nucleotide variantNM_022916.6(VPS33A):c.969+7C>Tnot provided [RCV002004883]uncertain significance12122244562122244562Humanname
151794415CV1482718deletionNM_022916.6(VPS33A):c.297-2delnot provided [RCV002047407]uncertain significance12122261449122261449Humanname
156307292CV2123190single nucleotide variantNM_022916.6(VPS33A):c.600+8C>Anot provided [RCV002962426]likely benign12122250975122250975Humanname
405125944CV2886555single nucleotide variantNM_022916.6(VPS33A):c.600+9C>Tnot provided [RCV003559570]likely benign12122250974122250974Humanname
405172646CV2897719single nucleotide variantNM_022916.6(VPS33A):c.484-5C>Tnot provided [RCV003563253]likely benign12122251104122251104Humanname
405008223CV3118290single nucleotide variantNM_022916.6(VPS33A):c.169-5C>Tnot provided [RCV003828720]likely benign12122263704122263704Humanname
402467012CV3177731single nucleotide variantNM_022916.6(VPS33A):c.103-9C>Tnot provided [RCV003873169]likely benign12122264208122264208Humanname
597939468CV3788546single nucleotide variantNM_022916.6(VPS33A):c.969+7C>Gnot provided [RCV005133221]likely benign12122244562122244562Humanname
21074342CV796707single nucleotide variantNM_022916.6(VPS33A):c.601-4C>Tnot provided [RCV000994999]uncertain significance12122250049122250049Humanname
127310563CV1156932single nucleotide variantNM_022916.6(VPS33A):c.296+20T>Cnot provided [RCV001518316]benign12122263552122263552Humanname
150406733CV1194629single nucleotide variantNM_022916.6(VPS33A):c.601-29C>Anot provided [RCV001572111]likely benign12122250074122250074Humanname
150470459CV1219249single nucleotide variantNM_022916.6(VPS33A):c.776-66T>Anot provided [RCV001615001]benign12122244828122244828Humanname
150458208CV1269600single nucleotide variantNM_022916.6(VPS33A):c.970-40A>Gnot provided [RCV001693140]benign12122242548122242548Humanname
150443443CV1277859single nucleotide variantNM_022916.6(VPS33A):c.776-27T>Gnot provided [RCV001707002]benign12122244789122244789Humanname
152052412CV1523584single nucleotide variantNM_022916.6(VPS33A):c.103-16T>Cnot provided [RCV002127401]benign12122264215122264215Humanname
152072168CV1544682single nucleotide variantNM_022916.6(VPS33A):c.297-20A>Gnot provided [RCV002129752]benign12122261467122261467Humanname
156417312CV1913336single nucleotide variantNM_022916.6(VPS33A):c.600+10G>Anot provided [RCV002610651]likely benign12122250973122250973Humanname
156436953CV1936778single nucleotide variantNM_022916.6(VPS33A):c.1303-9C>Tnot provided [RCV003106479]likely benign12122235932122235932Humanname
156108976CV1963570single nucleotide variantNM_022916.6(VPS33A):c.776-19C>Gnot provided [RCV002571127]likely benign12122244781122244781Humanname
156218627CV1980465single nucleotide variantNM_022916.6(VPS33A):c.484-15C>Tnot provided [RCV002626362]likely benign12122251114122251114Humanname
156404703CV1993472single nucleotide variantNM_022916.6(VPS33A):c.601-15A>Gnot provided [RCV002658117]likely benign12122250060122250060Humanname
156402121CV2010038single nucleotide variantNM_022916.6(VPS33A):c.600+16T>Anot provided [RCV002726097]likely benign12122250967122250967Humanname
156089928CV2017553single nucleotide variantNM_022916.6(VPS33A):c.1097-7A>Gnot provided [RCV002694906]likely benign12122239952122239952Humanname
156003254CV2057588single nucleotide variantNM_022916.6(VPS33A):c.103-14C>Tnot provided [RCV002819757]likely benign12122264213122264213Humanname
155938884CV2110545single nucleotide variantNM_022916.6(VPS33A):c.1302+3G>Anot provided [RCV002904331]uncertain significance12122238584122238584Humanname
156246046CV2145429single nucleotide variantNM_022916.6(VPS33A):c.168+20T>Cnot provided [RCV003008273]likely benign12122264114122264114Humanname
156363111CV2159067single nucleotide variantNM_022916.6(VPS33A):c.103-15T>Gnot provided [RCV003031703]likely benign12122264214122264214Humanname
402523842CV2896108single nucleotide variantNM_022916.6(VPS33A):c.775+15T>Cnot provided [RCV003576060]likely benign12122249856122249856Humanname
405249100CV3000529single nucleotide variantNM_022916.6(VPS33A):c.168+18G>Anot provided [RCV003721269]likely benign12122264116122264116Humanname
405140225CV3131142single nucleotide variantNM_022916.6(VPS33A):c.484-19T>Cnot provided [RCV003839182]likely benign12122251118122251118Humanname
405075268CV3156131single nucleotide variantNM_022916.6(VPS33A):c.102+17A>Gnot provided [RCV003851189]likely benign12122266290122266290Humanname
405248348CV3159299single nucleotide variantNM_022916.6(VPS33A):c.600+19G>Anot provided [RCV003869444]likely benign12122250964122250964Humanname
597931290CV3745943single nucleotide variantNM_022916.6(VPS33A):c.484-16G>Tnot provided [RCV005075929]likely benign12122251115122251115Humanname
597975020CV3798683single nucleotide variantNM_022916.6(VPS33A):c.297-12C>Tnot provided [RCV005144271]likely benign12122261459122261459Humanname
597973890CV3801614single nucleotide variantNM_022916.6(VPS33A):c.169-19T>Cnot provided [RCV005143603]likely benign12122263718122263718Humanname
597873992CV3846308single nucleotide variantNM_022916.6(VPS33A):c.600+10G>Cnot provided [RCV005177191]likely benign12122250973122250973Humanname
597898757CV3854588single nucleotide variantNM_022916.6(VPS33A):c.168+16G>Cnot provided [RCV005201695]likely benign12122264118122264118Humanname
597863487CV3860719single nucleotide variantNM_022916.6(VPS33A):c.297-11T>Gnot provided [RCV005196247]likely benign12122261458122261458Humanname
597865819CV3861303single nucleotide variantNM_022916.6(VPS33A):c.1441-8T>Cnot provided [RCV005196651]likely benign12122232976122232976Humanname
15121657CV775781single nucleotide variantNM_022916.6(VPS33A):c.1165-7T>Cnot provided [RCV000940561]likely benign12122238731122238731Humanname
15162368CV779761single nucleotide variantNM_022916.6(VPS33A):c.102+10G>AVPS33A-related disorder [RCV003918432]|not provided [RCV000970258]benign|likely benign12122266297122266297Human1name , trait , alternate_id
126729459CV1021000duplicationNM_022916.6(VPS33A):c.102+167dupMucopolysaccharidosis-plus syndrome [RCV005361694]|not provided [RCV001671271]pathogenic|benign12122266132122266133Human1name
150331832CV1163575single nucleotide variantNM_022916.6(VPS33A):c.1440+41G>Tnot provided [RCV001527966]benign12122235745122235745Humanname
150336613CV1172368single nucleotide variantNM_022916.6(VPS33A):c.483+220C>Gnot provided [RCV001541068]benign12122261041122261041Humanname
150507658CV1229144single nucleotide variantNM_022916.6(VPS33A):c.1440+23G>AMucopolysaccharidosis-plus syndrome [RCV002243343]|not provided [RCV001636015]benign12122235763122235763Human1name
150435182CV1233796single nucleotide variantNM_022916.6(VPS33A):c.776-291C>Tnot provided [RCV001643923]benign12122245053122245053Humanname
150485398CV1250219single nucleotide variantNM_022916.6(VPS33A):c.102+124A>Gnot provided [RCV001673832]benign12122266183122266183Humanname
150463823CV1252577single nucleotide variantNM_022916.6(VPS33A):c.601-162G>Anot provided [RCV001669900]benign12122250207122250207Humanname
150503215CV1257742single nucleotide variantNM_022916.6(VPS33A):c.102+276A>GVPS33A-related disorder [RCV003984050]|not provided [RCV001677430]benign12122266031122266031Human1name , trait , alternate_id
150461474CV1264314single nucleotide variantNM_022916.6(VPS33A):c.601-286C>Tnot provided [RCV001682231]benign12122250331122250331Humanname
150499085CV1270762single nucleotide variantNM_022916.6(VPS33A):c.970-106C>Tnot provided [RCV001689311]benign12122242614122242614Humanname
150476164CV1271295single nucleotide variantNM_022916.6(VPS33A):c.102+168G>Cnot provided [RCV001696118]benign12122266139122266139Humanname
150454061CV1276936single nucleotide variantNM_022916.6(VPS33A):c.970-266C>Tnot provided [RCV001708727]benign12122242774122242774Humanname
150521073CV1290826single nucleotide variantNM_022916.6(VPS33A):c.102+131T>Anot provided [RCV001732475]likely benign12122266176122266176Humanname
151232963CV1317677single nucleotide variantNM_022916.6(VPS33A):c.970-198G>Anot provided [RCV001787443]likely benign12122242706122242706Humanname
152176017CV1562168single nucleotide variantNM_022916.6(VPS33A):c.1302+15A>Tnot provided [RCV002164157]likely benign12122238572122238572Humanname
152153592CV1592857single nucleotide variantNM_022916.6(VPS33A):c.1164+19C>Gnot provided [RCV002202351]likely benign12122239859122239859Humanname
152147070CV1608098single nucleotide variantNM_022916.6(VPS33A):c.1302+20A>Gnot provided [RCV002178883]likely benign12122238567122238567Humanname
152029478CV1655885single nucleotide variantNM_022916.6(VPS33A):c.1610-19T>Gnot provided [RCV002186178]likely benign12122232446122232446Humanname
155267519CV1704967single nucleotide variantNM_022916.6(VPS33A):c.600+134A>Gnot provided [RCV002285572]likely benign12122250849122250849Humanname
156377467CV2000469single nucleotide variantNM_022916.6(VPS33A):c.1165-12C>Tnot provided [RCV002653406]likely benign12122238736122238736Humanname
156309736CV2031459single nucleotide variantNM_022916.6(VPS33A):c.1440+14C>Tnot provided [RCV002716462]likely benign12122235772122235772Humanname
156212793CV2037017duplicationNM_022916.6(VPS33A):c.1164+17dupnot provided [RCV002790311]benign12122239860122239861Humanname
156208132CV2160294single nucleotide variantNM_022916.6(VPS33A):c.1165-11T>Anot provided [RCV003042229]likely benign12122238735122238735Humanname
156095991CV2163373single nucleotide variantNM_022916.6(VPS33A):c.1097-20A>Gnot provided [RCV003038393]likely benign12122239965122239965Humanname
405278013CV3221682deletionNM_022916.6(VPS33A):c.102+174delMucopolysaccharidosis-plus syndrome [RCV005358076]|VPS33A-related disorder [RCV003976287]likely benign|uncertain significance12122266133122266133Human1name , trait , alternate_id
14746522CV665430single nucleotide variantNM_022916.6(VPS33A):c.102+154A>Cnot provided [RCV000844542]benign12122266153122266153Humanname
150425284CV1184638single nucleotide variantNM_022916.6(VPS33A):c.1441-195G>Tnot provided [RCV001557804]likely benign12122233163122233163Humanname
150475687CV1216702single nucleotide variantNM_022916.6(VPS33A):c.1302+264G>Anot provided [RCV001615995]benign12122238323122238323Humanname
150438189CV1237988single nucleotide variantNM_022916.6(VPS33A):c.1440+238C>Tnot provided [RCV001644486]benign12122235548122235548Humanname
150491362CV1239268single nucleotide variantNM_022916.6(VPS33A):c.1097-307C>Tnot provided [RCV001654836]benign12122240252122240252Humanname
150452569CV1260411deletionNM_022916.6(VPS33A):c.1610-152delnot provided [RCV001680901]benign12122232579122232579Humanname
150449452CV1260824deletionNM_022916.6(VPS33A):c.1441-261delnot provided [RCV001680493]benign12122233229122233229Humanname
150448078CV1261916single nucleotide variantNM_022916.6(VPS33A):c.1165-250T>Gnot provided [RCV001680301]benign12122238974122238974Humanname
150476403CV1271330single nucleotide variantNM_022916.6(VPS33A):c.1164+130A>Tnot provided [RCV001696153]benign12122239748122239748Humanname
150474715CV1272375single nucleotide variantNM_022916.6(VPS33A):c.1440+276G>Tnot provided [RCV001695913]benign12122235510122235510Humanname
150464213CV1273267single nucleotide variantNM_022916.6(VPS33A):c.1164+134G>Anot provided [RCV001694024]benign12122239744122239744Humanname
152168101CV1524705microsatelliteNM_022916.6(VPS33A):c.970-18CT[2]not provided [RCV002182333]likely benign12122242521122242522Humanname
243053441CV2404292single nucleotide variantNM_022916.6(VPS33A):c.1609+150C>Gnot provided [RCV003129318]likely benign12122232650122232650Humanname
407425627CV3409564single nucleotide variantNM_022916.6(VPS33A):c.484-2379T>Cnot provided [RCV004585496]likely benign12122253478122253478Humanname
407425874CV3409665single nucleotide variantNM_022916.6(VPS33A):c.484-2406T>Cnot provided [RCV004585597]likely benign12122253505122253505Humanname
401932613CV2817034single nucleotide variantNM_022916.6(VPS33A):c.1097-1104T>Cnot provided [RCV003392161]likely benign12122241049122241049Humanname
150415568CV1191350microsatelliteNM_022916.6(VPS33A):c.1165-82GT[16]not provided [RCV001568043]likely benign12122238771122238774Humanname
150419953CV1198321microsatelliteNM_022916.6(VPS33A):c.1165-82GT[13]not provided [RCV001577402]likely benign12122238771122238780Humanname
150513106CV1228900microsatelliteNM_022916.6(VPS33A):c.1165-82GT[20]not provided [RCV001637742]benign12122238770122238771Humanname
150490813CV1239178microsatelliteNM_022916.6(VPS33A):c.1165-82GT[15]not provided [RCV001654746]benign12122238771122238776Humanname
150482277CV1247428microsatelliteNM_022916.6(VPS33A):c.1165-82GT[19]Mucopolysaccharidosis-plus syndrome [RCV002243379]|not provided [RCV001673253]benign12122238770122238771Humanname
150450228CV1254088microsatelliteNM_022916.6(VPS33A):c.1165-82GT[23]not provided [RCV001667725]benign12122238770122238771Humanname
150464804CV1268500microsatelliteNM_022916.6(VPS33A):c.1165-298GT[8]not provided [RCV001694196]benign12122238997122239006Humanname
150473529CV1234295microsatelliteNM_022916.6(VPS33A):c.1165-298GT[11]not provided [RCV001651614]benign12122238997122239000Humanname
150462379CV1253365microsatelliteNM_022916.6(VPS33A):c.1165-298GT[12]not provided [RCV001669694]benign12122238997122238998Humanname
152081984CV1612346single nucleotide variantNM_022916.6(VPS33A):c.21C>T (p.Tyr7=)not provided [RCV002130937]likely benign12122266388122266388Humanname
155999495CV2168976single nucleotide variantNM_022916.6(VPS33A):c.27A>G (p.Arg9=)not provided [RCV003017205]likely benign12122266382122266382Humanname
152089093CV1580578inversionNM_022916.6(VPS33A):c.296+20_296+21invnot provided [RCV002093921]likely benign12122263551122263552Humanname
156396385CV1980520microsatelliteNM_022916.6(VPS33A):c.1165-34ATGTAT[2]not provided [RCV002605161]likely benign12122238741122238746Humanname
155906862CV2007434single nucleotide variantNM_022916.6(VPS33A):c.5C>T (p.Ala2Val)not provided [RCV002681445]uncertain significance12122266404122266404Humanname
597804226CV3626524single nucleotide variantNM_022916.6(VPS33A):c.8C>T (p.Ala3Val)not specified [RCV004882144]uncertain significance12122266401122266401Humanname
15098253CV768918single nucleotide variantNM_022916.6(VPS33A):c.87G>A (p.Lys29=)not provided [RCV000936238]likely benign12122266322122266322Humanname
152148231CV1640227single nucleotide variantNM_022916.6(VPS33A):c.216G>A (p.Pro72=)not provided [RCV002157764]likely benign12122263652122263652Humanname
155920312CV2073675single nucleotide variantNM_022916.6(VPS33A):c.162A>T (p.Leu54=)not provided [RCV002838287]likely benign12122264140122264140Humanname
156318512CV2111821single nucleotide variantNM_022916.6(VPS33A):c.183A>G (p.Glu61=)not provided [RCV002937599]likely benign12122263685122263685Humanname
405116428CV2961649single nucleotide variantNM_022916.6(VPS33A):c.156T>C (p.Tyr52=)not provided [RCV003670998]likely benign12122264146122264146Humanname
405020773CV3139180single nucleotide variantNM_022916.6(VPS33A):c.174T>C (p.His58=)not provided [RCV003829822]likely benign12122263694122263694Humanname
597887190CV3741905single nucleotide variantNM_022916.6(VPS33A):c.144G>T (p.Leu48=)not provided [RCV005070625]likely benign12122264158122264158Humanname
597909370CV3749520deletionNM_022916.6(VPS33A):c.1441-12_1441-9delnot provided [RCV005073368]likely benign12122232977122232980Humanname
597959425CV3814990single nucleotide variantNM_022916.6(VPS33A):c.132A>G (p.Gly44=)not provided [RCV005163116]likely benign12122264170122264170Humanname
15102786CV702184single nucleotide variantNM_022916.6(VPS33A):c.282T>C (p.Ala94=)Mucopolysaccharidosis-plus syndrome [RCV002489342]|not provided [RCV000959352]benign|likely benign12122263586122263586Human1name
151861599CV1353338single nucleotide variantNM_022916.6(VPS33A):c.363C>T (p.Cys121=)not provided [RCV001924068]likely benign12122261381122261381Humanname
151738587CV1390046single nucleotide variantNM_022916.6(VPS33A):c.47G>T (p.Arg16Leu)not provided [RCV001893041]|not specified [RCV004039170]uncertain significance12122266362122266362Humanname
151807648CV1477666single nucleotide variantNM_022916.6(VPS33A):c.891T>C (p.Ala297=)not provided [RCV001953509]likely benign12122244647122244647Humanname
152083485CV1525332single nucleotide variantNM_022916.6(VPS33A):c.963A>T (p.Ala321=)not provided [RCV002131129]likely benign12122244575122244575Humanname
152045661CV1539511single nucleotide variantNM_022916.6(VPS33A):c.318G>A (p.Thr106=)VPS33A-related disorder [RCV003933490]|not provided [RCV002145059]likely benign12122261426122261426Human1name , trait , alternate_id
152163569CV1575466single nucleotide variantNM_022916.6(VPS33A):c.519C>T (p.Tyr173=)not provided [RCV002181358]likely benign12122251064122251064Humanname
152170867CV1592616single nucleotide variantNM_022916.6(VPS33A):c.954C>T (p.Ile318=)not provided [RCV002161912]likely benign12122244584122244584Humanname
152062378CV1594487single nucleotide variantNM_022916.6(VPS33A):c.699T>C (p.Asn233=)not provided [RCV002110273]likely benign12122249947122249947Humanname
152089563CV1654693single nucleotide variantNM_022916.6(VPS33A):c.951C>A (p.Ile317=)not provided [RCV002212535]likely benign12122244587122244587Humanname
152144177CV1658091single nucleotide variantNM_022916.6(VPS33A):c.522C>T (p.His174=)not provided [RCV002219782]likely benign12122251061122251061Humanname
153304533CV1687122single nucleotide variantNM_022916.6(VPS33A):c.366A>G (p.Glu122=)not provided [RCV002262410]likely benign12122261378122261378Humanname
155951417CV1878798single nucleotide variantNM_022916.6(VPS33A):c.966C>T (p.Phe322=)not provided [RCV002511745]likely benign12122244572122244572Humanname
156195834CV1912307single nucleotide variantNM_022916.6(VPS33A):c.543C>T (p.Thr181=)not provided [RCV002595532]likely benign12122251040122251040Humanname
156371750CV1916493single nucleotide variantNM_022916.6(VPS33A):c.846G>A (p.Thr282=)not provided [RCV002603234]likely benign12122244692122244692Humanname
156436763CV1940335single nucleotide variantNM_022916.6(VPS33A):c.594C>T (p.Cys198=)not provided [RCV003106287]likely benign12122250989122250989Humanname
156086985CV1953270single nucleotide variantNM_022916.6(VPS33A):c.501T>C (p.Gly167=)not provided [RCV002570094]likely benign12122251082122251082Humanname
156353655CV1962206single nucleotide variantNM_022916.6(VPS33A):c.417G>A (p.Glu139=)not provided [RCV002581237]likely benign12122261327122261327Humanname
156135638CV1962902single nucleotide variantNM_022916.6(VPS33A):c.642A>G (p.Thr214=)not provided [RCV002572386]likely benign12122250004122250004Humanname
156391297CV1964893single nucleotide variantNM_022916.6(VPS33A):c.981T>C (p.Asn327=)not provided [RCV002583898]likely benign12122242497122242497Humanname
156254220CV1981658single nucleotide variantNM_022916.6(VPS33A):c.822C>T (p.Gly274=)not provided [RCV002645996]likely benign12122244716122244716Humanname
156306101CV2013740single nucleotide variantNM_022916.6(VPS33A):c.53C>G (p.Ala18Gly)not provided [RCV002716285]uncertain significance12122266356122266356Humanname
156015791CV2044024single nucleotide variantNM_022916.6(VPS33A):c.534G>A (p.Gly178=)not provided [RCV002795340]likely benign12122251049122251049Humanname
156222901CV2080952single nucleotide variantNM_022916.6(VPS33A):c.720T>C (p.Leu240=)not provided [RCV002853278]likely benign12122249926122249926Humanname
155951424CV2084588single nucleotide variantNM_022916.6(VPS33A):c.334C>T (p.Leu112=)not provided [RCV002880523]likely benign12122261410122261410Humanname
156263926CV2170038single nucleotide variantNM_022916.6(VPS33A):c.948G>A (p.Lys316=)not provided [RCV003026750]likely benign12122244590122244590Humanname
156400911CV2186145single nucleotide variantNM_022916.6(VPS33A):c.924C>T (p.Gly308=)not provided [RCV003052298]likely benign12122244614122244614Humanname
156157623CV2190960single nucleotide variantNM_022916.6(VPS33A):c.816A>G (p.Lys272=)not provided [RCV003040586]likely benign12122244722122244722Humanname
156067023CV2270812single nucleotide variantNM_022916.6(VPS33A):c.91G>A (p.Ala31Thr)not specified [RCV004131862]uncertain significance12122266318122266318Humanname
401932572CV2817035single nucleotide variantNM_022916.6(VPS33A):c.351T>A (p.Arg117=)not provided [RCV003392162]likely benign12122261393122261393Humanname
402479189CV2924942single nucleotide variantNM_022916.6(VPS33A):c.993G>A (p.Val331=)not provided [RCV003571889]likely benign12122242485122242485Humanname
405063447CV2939782single nucleotide variantNM_022916.6(VPS33A):c.537G>A (p.Leu179=)not provided [RCV003658950]likely benign12122251046122251046Humanname
405221026CV3154700single nucleotide variantNM_022916.6(VPS33A):c.843C>T (p.Pro281=)not provided [RCV003847195]likely benign12122244695122244695Humanname
405094535CV3164235single nucleotide variantNM_022916.6(VPS33A):c.918A>G (p.Ala306=)not provided [RCV003852550]likely benign12122244620122244620Humanname
597946539CV3807526single nucleotide variantNM_022916.6(VPS33A):c.567C>T (p.Ile189=)not provided [RCV005160161]likely benign12122251016122251016Humanname
15162364CV713391single nucleotide variantNM_022916.6(VPS33A):c.459C>T (p.Ser153=)VPS33A-related disorder [RCV003960823]|not provided [RCV000970257]benign|likely benign12122261285122261285Human1name , trait , alternate_id
15151905CV724952single nucleotide variantNM_022916.6(VPS33A):c.624G>A (p.Arg208=)Mucopolysaccharidosis-plus syndrome [RCV002501366]|not provided [RCV000879696]benign|likely benign12122250022122250022Human1name
15142710CV738509single nucleotide variantNM_022916.6(VPS33A):c.477A>G (p.Ala159=)not provided [RCV000899718]likely benign12122261267122261267Humanname
15186108CV768917single nucleotide variantNM_022916.6(VPS33A):c.993G>T (p.Val331=)not provided [RCV000931257]likely benign12122242485122242485Humanname
8627205CV82349single nucleotide variantNM_022916.4(VPS33A):c.576C>T (p.Ile192=)Malignant melanoma [RCV000062428]not provided12122251007122251007Humanname
127300799CV1156928single nucleotide variantNM_022916.6(VPS33A):c.1350C>T (p.Ala450=)not provided [RCV001514378]benign12122235876122235876Humanname
127312188CV1156929single nucleotide variantNM_022916.6(VPS33A):c.1047C>T (p.Gly349=)not provided [RCV001518866]benign12122242431122242431Humanname
151832786CV1456066single nucleotide variantNM_022916.6(VPS33A):c.235A>G (p.Ile79Val)not provided [RCV002050886]uncertain significance12122263633122263633Humanname
152110705CV1519565single nucleotide variantNM_022916.6(VPS33A):c.1449G>A (p.Thr483=)not provided [RCV002153016]likely benign12122232960122232960Humanname
152111855CV1550449single nucleotide variantNM_022916.6(VPS33A):c.1110T>C (p.Phe370=)not provided [RCV002153153]likely benign12122239932122239932Humanname
152042404CV1603462single nucleotide variantNM_022916.6(VPS33A):c.1191C>T (p.Ile397=)VPS33A-related disorder [RCV003923420]|not provided [RCV002071191]likely benign12122238698122238698Human1name , trait , alternate_id
152146809CV1635546single nucleotide variantNM_022916.6(VPS33A):c.1224A>G (p.Arg408=)not provided [RCV002201360]likely benign12122238665122238665Humanname
152146974CV1635566single nucleotide variantNM_022916.6(VPS33A):c.1116T>C (p.Asp372=)not provided [RCV002201380]likely benign12122239926122239926Humanname
152067422CV1647178single nucleotide variantNM_022916.6(VPS33A):c.1563C>T (p.Pro521=)not provided [RCV002129158]likely benign12122232846122232846Humanname
152130803CV1647615single nucleotide variantNM_022916.6(VPS33A):c.1650T>C (p.Leu550=)not provided [RCV002082835]likely benign12122232387122232387Humanname
152154891CV1658030single nucleotide variantNM_022916.6(VPS33A):c.1554C>T (p.Leu518=)not provided [RCV002179998]likely benign12122232855122232855Humanname
156417865CV1920602single nucleotide variantNM_022916.6(VPS33A):c.275T>C (p.Ile92Thr)not provided [RCV002611032]likely benign12122263593122263593Humanname
156205668CV1922772single nucleotide variantNM_022916.6(VPS33A):c.208C>G (p.Arg70Gly)not provided [RCV002643798]uncertain significance12122263660122263660Humanname
156438739CV1947355single nucleotide variantNM_022916.6(VPS33A):c.1719A>G (p.Glu573=)not provided [RCV003108685]likely benign12122232318122232318Humanname
156405723CV1953860single nucleotide variantNM_022916.6(VPS33A):c.1401G>A (p.Arg467=)not provided [RCV002585710]likely benign12122235825122235825Humanname
156083295CV1956333single nucleotide variantNM_022916.6(VPS33A):c.208C>T (p.Arg70Cys)not provided [RCV002573843]|not specified [RCV004064357]uncertain significance12122263660122263660Humanname
156245640CV1956954single nucleotide variantNM_022916.6(VPS33A):c.1078T>C (p.Leu360=)not provided [RCV002576376]likely benign12122242400122242400Humanname
156070530CV1959182single nucleotide variantNM_022916.6(VPS33A):c.1725C>T (p.Val575=)not provided [RCV002569592]likely benign12122232312122232312Humanname
155981034CV1972423single nucleotide variantNM_022916.6(VPS33A):c.1200G>A (p.Lys400=)not provided [RCV002617602]likely benign12122238689122238689Humanname
156414274CV1986569single nucleotide variantNM_022916.6(VPS33A):c.209G>A (p.Arg70His)not provided [RCV002609127]uncertain significance12122263659122263659Humanname
156083999CV1992949single nucleotide variantNM_022916.6(VPS33A):c.1120T>C (p.Leu374=)not provided [RCV002638994]likely benign12122239922122239922Humanname
156174102CV2000194single nucleotide variantNM_022916.6(VPS33A):c.1089T>C (p.Asp363=)not provided [RCV002642813]likely benign12122242389122242389Humanname
156038225CV2047767single nucleotide variantNM_022916.6(VPS33A):c.189G>A (p.Met63Ile)not provided [RCV002781391]uncertain significance12122263679122263679Humanname
156168723CV2075429single nucleotide variantNM_022916.6(VPS33A):c.1077A>G (p.Glu359=)not provided [RCV002851467]likely benign12122242401122242401Humanname
156234184CV2085490single nucleotide variantNM_022916.6(VPS33A):c.1083C>A (p.Ile361=)not provided [RCV002876352]likely benign12122242395122242395Humanname
156391044CV2118648single nucleotide variantNM_022916.6(VPS33A):c.1308C>T (p.Tyr436=)not provided [RCV002943910]likely benign12122235918122235918Humanname
156038143CV2124714single nucleotide variantNM_022916.6(VPS33A):c.109G>C (p.Val37Leu)not provided [RCV002923803]uncertain significance12122264193122264193Humanname
156053580CV2137214single nucleotide variantNM_022916.6(VPS33A):c.1452C>T (p.Asp484=)not provided [RCV002999954]likely benign12122232957122232957Humanname
156286566CV2172292single nucleotide variantNM_022916.6(VPS33A):c.1461T>C (p.Tyr487=)not provided [RCV003027511]likely benign12122232948122232948Humanname
156172975CV2188296single nucleotide variantNM_022916.6(VPS33A):c.1770T>C (p.Ala590=)not provided [RCV003041091]likely benign12122232267122232267Humanname
156057883CV2239145single nucleotide variantNM_022916.6(VPS33A):c.238A>G (p.Ile80Val)not specified [RCV004112135]uncertain significance12122263630122263630Humanname
329390750CV2437214single nucleotide variantNM_022916.6(VPS33A):c.214C>A (p.Pro72Thr)not specified [RCV004256105]uncertain significance12122263654122263654Humanname
401779144CV2702278single nucleotide variantNM_022916.6(VPS33A):c.202G>A (p.Gly68Arg)not specified [RCV004314610]uncertain significance12122263666122263666Humanname
401761418CV2702329single nucleotide variantNM_022916.6(VPS33A):c.226G>A (p.Val76Met)not specified [RCV004316861]uncertain significance12122263642122263642Humanname
405061707CV3129594single nucleotide variantNM_022916.6(VPS33A):c.1065C>A (p.Thr355=)not provided [RCV003832863]likely benign12122242413122242413Humanname
405032288CV3130020single nucleotide variantNM_022916.6(VPS33A):c.1653G>T (p.Gly551=)not provided [RCV003830619]likely benign12122232384122232384Humanname
405127331CV3132881single nucleotide variantNM_022916.6(VPS33A):c.1281T>C (p.Tyr427=)not provided [RCV003838044]likely benign12122238608122238608Humanname
405283001CV3218448single nucleotide variantNM_022916.6(VPS33A):c.1482G>A (p.Pro494=)VPS33A-related disorder [RCV003957247]likely benign12122232927122232927Humanname , trait , alternate_id
407532574CV3491394single nucleotide variantNM_022916.6(VPS33A):c.215C>T (p.Pro72Leu)not specified [RCV004683219]uncertain significance12122263653122263653Humanname
597922076CV3738459single nucleotide variantNM_022916.6(VPS33A):c.1513C>A (p.Arg505=)not provided [RCV005074866]likely benign12122232896122232896Humanname
597830821CV3739479single nucleotide variantNM_022916.6(VPS33A):c.1242C>T (p.Ser414=)not provided [RCV005062369]likely benign12122238647122238647Humanname
597830678CV3743216single nucleotide variantNM_022916.6(VPS33A):c.1365G>A (p.Pro455=)not provided [RCV005062224]likely benign12122235861122235861Humanname
597861264CV3770201single nucleotide variantNM_022916.6(VPS33A):c.1560G>A (p.Gly520=)not provided [RCV005106053]likely benign12122232849122232849Humanname
597959771CV3794217single nucleotide variantNM_022916.6(VPS33A):c.1731C>G (p.Ala577=)not provided [RCV005138330]likely benign12122232306122232306Humanname
597958558CV3814838single nucleotide variantNM_022916.6(VPS33A):c.1734C>G (p.Thr578=)not provided [RCV005162963]likely benign12122232303122232303Humanname
597831628CV3830825single nucleotide variantNM_022916.6(VPS33A):c.1044G>A (p.Arg348=)not provided [RCV005170223]likely benign12122242434122242434Humanname
598241543CV3925970single nucleotide variantNM_022916.6(VPS33A):c.211T>G (p.Leu71Val)not specified [RCV005296948]uncertain significance12122263657122263657Humanname
15193727CV702185single nucleotide variantNM_022916.6(VPS33A):c.274A>C (p.Ile92Leu)VPS33A-related disorder [RCV003943074]|not provided [RCV000955454]benign|likely benign12122263594122263594Human1name , trait , alternate_id
15180250CV724951single nucleotide variantNM_022916.6(VPS33A):c.1125C>T (p.Thr375=)not provided [RCV000885482]likely benign12122239917122239917Humanname
15141433CV753168single nucleotide variantNM_022916.6(VPS33A):c.1665C>T (p.Phe555=)not provided [RCV000921840]likely benign12122232372122232372Humanname
15153641CV753169single nucleotide variantNM_022916.6(VPS33A):c.1458G>A (p.Ser486=)not provided [RCV000924098]likely benign12122232951122232951Humanname
15158528CV753170single nucleotide variantNM_022916.6(VPS33A):c.1324T>C (p.Leu442=)not provided [RCV000925089]likely benign12122235902122235902Humanname
15142293CV768914single nucleotide variantNM_022916.6(VPS33A):c.1617G>A (p.Pro539=)not provided [RCV000944053]likely benign12122232420122232420Humanname
15177415CV768915single nucleotide variantNM_022916.6(VPS33A):c.1225C>T (p.Leu409=)not provided [RCV000929150]likely benign12122238664122238664Humanname
15186375CV768916single nucleotide variantNM_022916.6(VPS33A):c.1161T>C (p.Asp387=)not provided [RCV000931334]likely benign12122239881122239881Humanname
127300805CV1156930single nucleotide variantNM_022916.6(VPS33A):c.766A>C (p.Ile256Leu)not provided [RCV001514379]benign12122249880122249880Humanname
127312428CV1156931single nucleotide variantNM_022916.6(VPS33A):c.346C>T (p.Arg116Cys)not provided [RCV001518955]benign12122261398122261398Humanname
150336179CV1172367microsatelliteNM_022916.6(VPS33A):c.1164+131_1164+132delnot provided [RCV001540877]benign12122239746122239747Humanname
151797312CV1352584single nucleotide variantNM_022916.6(VPS33A):c.329A>G (p.His110Arg)not provided [RCV001877062]uncertain significance12122261415122261415Humanname
151835527CV1374755single nucleotide variantNM_022916.6(VPS33A):c.658A>G (p.Ile220Val)not provided [RCV001920932]|not specified [RCV004043473]likely benign|uncertain significance12122249988122249988Humanname
151803719CV1375545single nucleotide variantNM_022916.6(VPS33A):c.557A>G (p.Tyr186Cys)not provided [RCV001953165]uncertain significance12122251026122251026Humanname
151736182CV1387694single nucleotide variantNM_022916.6(VPS33A):c.613A>C (p.Met205Leu)not provided [RCV002005327]uncertain significance12122250033122250033Humanname
151779172CV1392526single nucleotide variantNM_022916.6(VPS33A):c.379G>T (p.Asp127Tyr)not provided [RCV001897078]uncertain significance12122261365122261365Humanname
151870593CV1395609single nucleotide variantNM_022916.6(VPS33A):c.509C>T (p.Thr170Met)not provided [RCV002035612]uncertain significance12122251074122251074Humanname
151820852CV1398281single nucleotide variantNM_022916.6(VPS33A):c.599G>C (p.Arg200Pro)Mucopolysaccharidosis-plus syndrome [RCV002284227]|not provided [RCV002013360]likely pathogenic|uncertain significance12122250984122250984Human1name
151827322CV1400547single nucleotide variantNM_022916.6(VPS33A):c.966C>G (p.Phe322Leu)not provided [RCV001976300]uncertain significance12122244572122244572Humanname
151862794CV1409142single nucleotide variantNM_022916.6(VPS33A):c.521A>T (p.His174Leu)not provided [RCV001905514]uncertain significance12122251062122251062Humanname
151812942CV1413792duplicationNM_022916.6(VPS33A):c.1376dup (p.Arg460fs)not provided [RCV002029149]uncertain significance12122235849122235850Humanname
151763985CV1418509single nucleotide variantNM_022916.6(VPS33A):c.647G>A (p.Ser216Asn)not provided [RCV001928848]uncertain significance12122249999122249999Humanname
151760470CV1435021single nucleotide variantNM_022916.6(VPS33A):c.759T>G (p.Ile253Met)not provided [RCV001913918]uncertain significance12122249887122249887Humanname
151821784CV1453654single nucleotide variantNM_022916.6(VPS33A):c.827G>T (p.Gly276Val)not provided [RCV001879281]uncertain significance12122244711122244711Humanname
151847036CV1461583single nucleotide variantNM_022916.6(VPS33A):c.916G>A (p.Ala306Thr)not provided [RCV001936846]uncertain significance12122244622122244622Humanname
151775079CV1463491single nucleotide variantNM_022916.6(VPS33A):c.523G>A (p.Ala175Thr)not provided [RCV001896721]|not specified [RCV004041758]uncertain significance12122251060122251060Humanname
151809475CV1476595single nucleotide variantNM_022916.6(VPS33A):c.488G>A (p.Cys163Tyr)not provided [RCV001878116]uncertain significance12122251095122251095Humanname
151721746CV1489568single nucleotide variantNM_022916.6(VPS33A):c.820G>C (p.Gly274Arg)not provided [RCV001891206]uncertain significance12122244718122244718Humanname
151787969CV1510124single nucleotide variantNM_022916.6(VPS33A):c.667G>A (p.Val223Ile)not provided [RCV001916527]uncertain significance12122249979122249979Humanname
155673774CV1774269single nucleotide variantNM_022916.6(VPS33A):c.721G>T (p.Ala241Ser)not provided [RCV002297670]uncertain significance12122249925122249925Humanname
155951218CV1899822single nucleotide variantNM_022916.6(VPS33A):c.991G>A (p.Val331Met)not provided [RCV003095342]uncertain significance12122242487122242487Humanname
156379561CV1903386single nucleotide variantNM_022916.6(VPS33A):c.317C>T (p.Thr106Met)not provided [RCV003093164]uncertain significance12122261427122261427Humanname
156018386CV1914728single nucleotide variantNM_022916.6(VPS33A):c.737A>G (p.Tyr246Cys)not provided [RCV002636585]|not specified [RCV004070496]uncertain significance12122249909122249909Humanname
156438865CV1947784single nucleotide variantNM_022916.6(VPS33A):c.509C>A (p.Thr170Lys)not provided [RCV003108813]likely benign12122251074122251074Humanname
156300417CV1955532single nucleotide variantNM_022916.6(VPS33A):c.706T>A (p.Leu236Ile)not provided [RCV002578203]|not specified [RCV004877737]uncertain significance12122249940122249940Humanname
156311858CV1969682single nucleotide variantNM_022916.6(VPS33A):c.349C>T (p.Arg117Cys)not provided [RCV002578739]uncertain significance12122261395122261395Humanname
156063589CV1975283single nucleotide variantNM_022916.6(VPS33A):c.631A>G (p.Arg211Gly)not provided [RCV002591056]uncertain significance12122250015122250015Humanname
156411623CV1976421single nucleotide variantNM_022916.6(VPS33A):c.811A>G (p.Lys271Glu)not provided [RCV002587552]uncertain significance12122244727122244727Humanname
156222617CV2009250single nucleotide variantNM_022916.6(VPS33A):c.916G>T (p.Ala306Ser)not provided [RCV002701062]uncertain significance12122244622122244622Humanname
156079651CV2011944single nucleotide variantNM_022916.6(VPS33A):c.887A>G (p.Tyr296Cys)not provided [RCV002705948]uncertain significance12122244651122244651Humanname
156050558CV2060031single nucleotide variantNM_022916.6(VPS33A):c.541A>G (p.Thr181Ala)not provided [RCV002796753]uncertain significance12122251042122251042Humanname
156209135CV2074153single nucleotide variantNM_022916.6(VPS33A):c.398C>T (p.Ser133Phe)not provided [RCV002829229]uncertain significance12122261346122261346Humanname
156357745CV2126193single nucleotide variantNM_022916.6(VPS33A):c.608C>A (p.Ala203Asp)not provided [RCV002966780]uncertain significance12122250038122250038Humanname
156153078CV2131887single nucleotide variantNM_022916.6(VPS33A):c.931C>T (p.Leu311Phe)not provided [RCV002982722]uncertain significance12122244607122244607Humanname
156158829CV2147212single nucleotide variantNM_022916.6(VPS33A):c.422G>A (p.Ser141Asn)not provided [RCV003023116]uncertain significance12122261322122261322Humanname
155940334CV2157962single nucleotide variantNM_022916.6(VPS33A):c.340G>T (p.Val114Leu)not provided [RCV003014223]uncertain significance12122261404122261404Humanname
156235907CV2158082single nucleotide variantNM_022916.6(VPS33A):c.484G>A (p.Glu162Lys)not provided [RCV003025824]uncertain significance12122251099122251099Humanname
156255884CV2325813single nucleotide variantNM_022916.6(VPS33A):c.821G>A (p.Gly274Asp)not provided [RCV004790436]|not specified [RCV004173696]uncertain significance12122244717122244717Humanname
329399296CV2436579single nucleotide variantNM_022916.6(VPS33A):c.994G>C (p.Gly332Arg)not specified [RCV004253731]uncertain significance12122242484122242484Humanname
401764689CV2705207single nucleotide variantNM_022916.6(VPS33A):c.800A>G (p.Lys267Arg)not specified [RCV004311912]uncertain significance12122244738122244738Humanname
401858509CV2774329single nucleotide variantNM_022916.6(VPS33A):c.480C>A (p.Phe160Leu)not specified [RCV004347682]uncertain significance12122261264122261264Humanname
405038289CV3067688single nucleotide variantNM_022916.6(VPS33A):c.845C>T (p.Thr282Met)not provided [RCV003739712]uncertain significance12122244693122244693Humanname
405292368CV3192447duplicationNM_022916.6(VPS33A):c.484-2453_484-2452dupVPS33A-related disorder [RCV003929712]benign12122253550122253551Humanname , trait , alternate_id
405293486CV3214210deletionNM_022916.6(VPS33A):c.484-2454_484-2452delVPS33A-related disorder [RCV003931914]likely benign12122253551122253553Humanname , trait , alternate_id
405811454CV3342078single nucleotide variantNM_022916.6(VPS33A):c.340G>A (p.Val114Met)not specified [RCV004482791]uncertain significance12122261404122261404Humanname
407532570CV3491390single nucleotide variantNM_022916.6(VPS33A):c.530A>C (p.Lys177Thr)not specified [RCV004683215]uncertain significance12122251053122251053Humanname
596940207CV3550833single nucleotide variantNM_022916.6(VPS33A):c.559G>A (p.Gly187Arg)not provided [RCV004814733]uncertain significance12122251024122251024Humanname
597698932CV3626525single nucleotide variantNM_022916.6(VPS33A):c.791C>T (p.Pro264Leu)not specified [RCV004885460]uncertain significance12122244747122244747Humanname
597698948CV3626527single nucleotide variantNM_022916.6(VPS33A):c.823G>A (p.Asp275Asn)not specified [RCV004885462]uncertain significance12122244715122244715Humanname
597972737CV3790309single nucleotide variantNM_022916.6(VPS33A):c.558T>G (p.Tyr186Ter)not provided [RCV005142732]uncertain significance12122251025122251025Humanname
598217475CV3925967single nucleotide variantNM_022916.6(VPS33A):c.476C>T (p.Ala159Val)not specified [RCV005293039]uncertain significance12122261268122261268Humanname
598241547CV3925971single nucleotide variantNM_022916.6(VPS33A):c.743G>C (p.Gly248Ala)not specified [RCV005296949]uncertain significance12122249903122249903Humanname
21074343CV796708single nucleotide variantNM_022916.6(VPS33A):c.340G>C (p.Val114Leu)not provided [RCV000995000]uncertain significance12122261404122261404Humanname
126725228CV1017576single nucleotide variantNM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu)Mucopolysaccharidosis-plus syndrome [RCV001331269]uncertain significance12122232952122232952Human1name
126725225CV1017577single nucleotide variantNM_022916.6(VPS33A):c.1420A>G (p.Met474Val)Mucopolysaccharidosis-plus syndrome [RCV001331268]uncertain significance12122235806122235806Human1name
151804621CV1371841single nucleotide variantNM_022916.6(VPS33A):c.1243G>A (p.Val415Met)not provided [RCV001953242]|not specified [RCV004043210]uncertain significance12122238646122238646Humanname
151818897CV1385791single nucleotide variantNM_022916.6(VPS33A):c.1514G>A (p.Arg505Gln)not provided [RCV002013176]uncertain significance12122232895122232895Humanname
151800912CV1413976single nucleotide variantNM_022916.6(VPS33A):c.1321A>G (p.Ile441Val)not provided [RCV002047969]uncertain significance12122235905122235905Humanname
151722692CV1414050single nucleotide variantNM_022916.6(VPS33A):c.1562C>G (p.Pro521Arg)not provided [RCV002020409]uncertain significance12122232847122232847Humanname
151772111CV1427548single nucleotide variantNM_022916.6(VPS33A):c.1426G>A (p.Asp476Asn)not provided [RCV001915082]uncertain significance12122235800122235800Humanname
151800096CV1430772single nucleotide variantNM_022916.6(VPS33A):c.1192G>A (p.Ala398Thr)not provided [RCV001877294]|not specified [RCV005298900]uncertain significance12122238697122238697Humanname
151716125CV1434953single nucleotide variantNM_022916.6(VPS33A):c.1297C>A (p.Leu433Ile)not provided [RCV001890355]uncertain significance12122238592122238592Humanname
151886804CV1445438single nucleotide variantNM_022916.6(VPS33A):c.1433A>T (p.Asn478Ile)not provided [RCV002000755]uncertain significance12122235793122235793Humanname
151818193CV1449781single nucleotide variantNM_022916.6(VPS33A):c.1453A>G (p.Ile485Val)not provided [RCV001878955]uncertain significance12122232956122232956Humanname
151802977CV1462480single nucleotide variantNM_022916.6(VPS33A):c.1729G>A (p.Ala577Thr)not provided [RCV002028271]uncertain significance12122232308122232308Humanname
151838598CV1501414single nucleotide variantNM_022916.6(VPS33A):c.1627C>T (p.Arg543Ter)not provided [RCV001977419]uncertain significance12122232410122232410Humanname
156030746CV1910744single nucleotide variantNM_022916.6(VPS33A):c.1387T>C (p.Tyr463His)not provided [RCV002619842]uncertain significance12122235839122235839Humanname
156377166CV1913876single nucleotide variantNM_022916.6(VPS33A):c.1321A>C (p.Ile441Leu)not provided [RCV002603677]uncertain significance12122235905122235905Humanname
156298129CV1919799single nucleotide variantNM_022916.6(VPS33A):c.1549A>C (p.Ile517Leu)not provided [RCV002599040]|not specified [RCV004068876]uncertain significance12122232860122232860Humanname
156395023CV1927767single nucleotide variantNM_022916.6(VPS33A):c.1205C>T (p.Ser402Leu)not provided [RCV002654827]uncertain significance12122238684122238684Humanname
156260274CV1960615single nucleotide variantNM_022916.6(VPS33A):c.1243G>T (p.Val415Leu)not provided [RCV002576823]uncertain significance12122238646122238646Humanname
156281718CV1967967single nucleotide variantNM_022916.6(VPS33A):c.1313A>G (p.Tyr438Cys)not provided [RCV002598416]uncertain significance12122235913122235913Humanname
156073172CV1972082single nucleotide variantNM_022916.6(VPS33A):c.1119A>T (p.Lys373Asn)not provided [RCV002591333]uncertain significance12122239923122239923Humanname
156241654CV1973234single nucleotide variantNM_022916.6(VPS33A):c.1351G>A (p.Gly451Ser)not provided [RCV002597166]uncertain significance12122235875122235875Humanname
156241422CV2028359single nucleotide variantNM_022916.6(VPS33A):c.1676C>T (p.Ala559Val)not provided [RCV002745674]uncertain significance12122232361122232361Humanname
156011372CV2039229single nucleotide variantNM_022916.6(VPS33A):c.1333C>A (p.His445Asn)not provided [RCV002770561]|not specified [RCV004064681]uncertain significance12122235893122235893Humanname
155998494CV2045405single nucleotide variantNM_022916.6(VPS33A):c.1339C>A (p.Leu447Met)not provided [RCV002756084]|not specified [RCV005301182]uncertain significance12122235887122235887Humanname
156126801CV2046859single nucleotide variantNM_022916.6(VPS33A):c.1448C>T (p.Thr483Met)not provided [RCV002800453]uncertain significance12122232961122232961Humanname
156292078CV2047279single nucleotide variantNM_022916.6(VPS33A):c.1562C>T (p.Pro521Leu)not provided [RCV002770814]uncertain significance12122232847122232847Humanname
156272623CV2067277single nucleotide variantNM_022916.6(VPS33A):c.1740A>T (p.Lys580Asn)not provided [RCV002856105]uncertain significance12122232297122232297Humanname
156098654CV2103043single nucleotide variantNM_022916.6(VPS33A):c.1533C>G (p.Ile511Met)not provided [RCV002913317]|not specified [RCV005301198]uncertain significance12122232876122232876Humanname
155998276CV2122711single nucleotide variantNM_022916.6(VPS33A):c.1783C>A (p.Pro595Thr)not provided [RCV002975057]uncertain significance12122232254122232254Humanname
156006006CV2127397single nucleotide variantNM_022916.6(VPS33A):c.1126G>A (p.Val376Met)not provided [RCV002948023]|not specified [RCV004067246]uncertain significance12122239916122239916Humanname
156158680CV2140619single nucleotide variantNM_022916.6(VPS33A):c.1456T>C (p.Ser486Pro)not provided [RCV003004980]uncertain significance12122232953122232953Humanname
156313009CV2256953single nucleotide variantNM_022916.6(VPS33A):c.1058A>G (p.Asn353Ser)not specified [RCV004121146]uncertain significance12122242420122242420Humanname
401728010CV2685734single nucleotide variantNM_022916.6(VPS33A):c.1364C>T (p.Pro455Leu)not specified [RCV004294729]uncertain significance12122235862122235862Humanname
401720710CV2702067single nucleotide variantNM_022916.6(VPS33A):c.1124C>G (p.Thr375Ser)not specified [RCV004320643]uncertain significance12122239918122239918Humanname
401890430CV2778707single nucleotide variantNM_022916.6(VPS33A):c.1766A>G (p.Glu589Gly)not specified [RCV004346621]uncertain significance12122232271122232271Humanname
402495216CV3004871single nucleotide variantNM_022916.6(VPS33A):c.1129G>A (p.Glu377Lys)not provided [RCV003687842]uncertain significance12122239913122239913Humanname
405811451CV3342076single nucleotide variantNM_022916.6(VPS33A):c.1049C>T (p.Ser350Leu)not specified [RCV004482789]uncertain significance12122242429122242429Humanname
405811452CV3342077single nucleotide variantNM_022916.6(VPS33A):c.1481C>T (p.Pro494Leu)not specified [RCV004482790]uncertain significance12122232928122232928Humanname
407532571CV3491391single nucleotide variantNM_022916.6(VPS33A):c.1748A>G (p.Asn583Ser)not specified [RCV004683216]uncertain significance12122232289122232289Humanname
407532573CV3491393single nucleotide variantNM_022916.6(VPS33A):c.1444C>A (p.Pro482Thr)not specified [RCV004683218]uncertain significance12122232965122232965Humanname
407532575CV3491395single nucleotide variantNM_022916.6(VPS33A):c.1393A>G (p.Thr465Ala)not specified [RCV004683220]uncertain significance12122235833122235833Humanname
407464997CV3491396single nucleotide variantNM_022916.6(VPS33A):c.1412G>A (p.Arg471His)not specified [RCV004688656]uncertain significance12122235814122235814Humanname
12741516CV361893single nucleotide variantNM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)Mucopolysaccharidosis-plus syndrome [RCV000415625]pathogenic|likely pathogenic12122232917122232917Human1name
597698940CV3626526single nucleotide variantNM_022916.6(VPS33A):c.1727T>C (p.Ile576Thr)not specified [RCV004885461]uncertain significance12122232310122232310Humanname
597804228CV3626528single nucleotide variantNM_022916.6(VPS33A):c.1666G>A (p.Ala556Thr)not specified [RCV004882145]uncertain significance12122232371122232371Humanname
597881283CV3826501single nucleotide variantNM_022916.6(VPS33A):c.1002C>G (p.Ile334Met)not provided [RCV005178198]uncertain significance12122242476122242476Humanname
598241521CV3925965single nucleotide variantNM_022916.6(VPS33A):c.1483C>T (p.Leu495Phe)not specified [RCV005296945]uncertain significance12122232926122232926Humanname
598241528CV3925966single nucleotide variantNM_022916.6(VPS33A):c.1373G>C (p.Gly458Ala)not specified [RCV005296946]uncertain significance12122235853122235853Humanname
598217483CV3925968single nucleotide variantNM_022916.6(VPS33A):c.1045G>C (p.Gly349Arg)not specified [RCV005293040]uncertain significance12122242433122242433Humanname
15193722CV702183single nucleotide variantNM_022916.6(VPS33A):c.1318C>T (p.His440Tyr)not provided [RCV000955453]likely benign|conflicting interpretations of pathogenicity12122235908122235908Humanname
15117466CV753171single nucleotide variantNM_022916.6(VPS33A):c.1069A>G (p.Ile357Val)not provided [RCV000917799]likely benign12122242409122242409Humanname
405872203CV3398308duplicationNM_022916.6(VPS33A):c.1097-1191_1097-1190dupnot provided [RCV004575309]likely benign12122241134122241135Humanname