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


1001 records found for search term Adamts18
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127233256CV1082445single nucleotide variantNM_199355.4(ADAMTS18):c.91-7C>Tnot provided [RCV001413807]likely benign167743451277434512Humanname
151879620CV1395632single nucleotide variantNM_199355.4(ADAMTS18):c.91-1G>Cnot provided [RCV001999364]likely pathogenic167743450677434506Humanname
156181812CV2020513single nucleotide variantNM_199355.4(ADAMTS18):c.91-8T>Cnot provided [RCV002710806]likely benign167743451377434513Humanname
155998834CV2057301single nucleotide variantNM_199355.4(ADAMTS18):c.90+3A>Gnot provided [RCV002819550]uncertain significance167743460377434603Humanname
405230330CV3153565single nucleotide variantNM_199355.4(ADAMTS18):c.90+8C>Tnot provided [RCV003848630]likely benign167743459877434598Humanname
405243993CV3161161single nucleotide variantNM_199355.4(ADAMTS18):c.91-2A>Gnot provided [RCV003868070]likely pathogenic167743450777434507Humanname
127234839CV1104247single nucleotide variantNM_199355.4(ADAMTS18):c.179-4G>Cnot provided [RCV001432972]likely benign167743161577431615Humanname
127309801CV1125654single nucleotide variantNM_199355.4(ADAMTS18):c.779-4G>Anot provided [RCV001456440]likely benign167736438577364385Humanname
127299829CV1146541single nucleotide variantNM_199355.4(ADAMTS18):c.972+7G>AADAMTS18-related disorder [RCV003931020]|not provided [RCV001498422]likely benign167736418177364181Human1name , alternate_id
127325932CV1146545single nucleotide variantNM_199355.4(ADAMTS18):c.90+13G>Tnot provided [RCV001506137]likely benign167743459377434593Humanname
127312841CV1157863single nucleotide variantNM_199355.4(ADAMTS18):c.972+4A>Gnot provided [RCV001519077]benign167736418477364184Humanname
151831966CV1439081single nucleotide variantNM_199355.4(ADAMTS18):c.972+6C>Tnot provided [RCV001976737]uncertain significance167736418277364182Humanname
152168350CV1558644single nucleotide variantNM_199355.4(ADAMTS18):c.973-8T>Cnot provided [RCV002142412]likely benign167736389377363893Humanname
152156243CV1573024single nucleotide variantNM_199355.4(ADAMTS18):c.779-5C>Tnot provided [RCV002180177]likely benign167736438677364386Humanname
152140795CV1625197single nucleotide variantNM_199355.4(ADAMTS18):c.90+20G>Anot provided [RCV002219344]likely benign167743458677434586Humanname
152125320CV1630166single nucleotide variantNM_199355.4(ADAMTS18):c.779-7A>Gnot provided [RCV002154790]likely benign167736438877364388Humanname
156415538CV1958688single nucleotide variantNM_199355.4(ADAMTS18):c.972+7G>Tnot provided [RCV002589223]likely benign167736418177364181Humanname
156373031CV2003646single nucleotide variantNM_199355.4(ADAMTS18):c.179-7A>Gnot provided [RCV002653062]likely benign167743161877431618Humanname
156237543CV2090270single nucleotide variantNM_199355.4(ADAMTS18):c.495+9A>Gnot provided [RCV002894793]likely benign167743128677431286Humanname
156399736CV2185940single nucleotide variantNM_199355.4(ADAMTS18):c.179-2A>Gnot provided [RCV003052199]likely pathogenic167743161377431613Humanname
401919578CV2798487single nucleotide variantNM_199355.4(ADAMTS18):c.778+5G>TADAMTS18-related disorder [RCV003402406]likely pathogenic167736743677367436Humanname , trait , alternate_id
405218515CV2873581single nucleotide variantNM_199355.4(ADAMTS18):c.496-8C>Tnot provided [RCV003553455]likely benign167736773177367731Humanname
402466303CV2914710single nucleotide variantNM_199355.4(ADAMTS18):c.91-20T>Cnot provided [RCV003569420]likely benign167743452577434525Humanname
405224815CV2979520single nucleotide variantNM_199355.4(ADAMTS18):c.972+7G>Cnot provided [RCV003681244]likely benign167736418177364181Humanname
405150595CV3123217single nucleotide variantNM_199355.4(ADAMTS18):c.90+10G>Tnot provided [RCV003817450]likely benign167743459677434596Humanname
38485653CV940372single nucleotide variantNM_199355.4(ADAMTS18):c.778+4T>Gnot provided [RCV001208569]uncertain significance167736743777367437Humanname
126752950CV1012396single nucleotide variantNM_199355.4(ADAMTS18):c.3402+4G>Tnot provided [RCV001316401]uncertain significance167729126277291262Humanname
126757655CV1012399single nucleotide variantNM_199355.4(ADAMTS18):c.3007-7T>Gnot provided [RCV001317554]uncertain significance167729326577293265Humanname
126749763CV1032884single nucleotide variantNM_199355.4(ADAMTS18):c.3403-8T>Gnot provided [RCV001352112]uncertain significance167728941977289419Humanname
127242691CV1056342single nucleotide variantNM_199355.4(ADAMTS18):c.3403-1G>Anot provided [RCV001376970]likely pathogenic167728941277289412Humanname
127247640CV1056343single nucleotide variantNM_199355.4(ADAMTS18):c.2287+2T>Gnot provided [RCV001377812]likely pathogenic167732107777321077Humanname
127253378CV1082423single nucleotide variantNM_199355.4(ADAMTS18):c.3007-6C>Gnot provided [RCV001418260]likely benign167729326477293264Humanname
127250789CV1082424single nucleotide variantNM_199355.4(ADAMTS18):c.2801+8A>Cnot provided [RCV001399946]likely benign167729728177297281Humanname
127233140CV1082428single nucleotide variantNM_199355.4(ADAMTS18):c.2164-5C>Anot provided [RCV001396006]likely benign167732120777321207Humanname
127241420CV1082436single nucleotide variantNM_199355.4(ADAMTS18):c.1217-5A>GADAMTS18-related disorder [RCV003946045]|not provided [RCV001397985]likely benign167735942877359428Human1name , alternate_id
127242931CV1082444single nucleotide variantNM_199355.4(ADAMTS18):c.178+17C>Tnot provided [RCV001416039]likely benign167743440177434401Humanname
127291148CV1125640single nucleotide variantNM_199355.4(ADAMTS18):c.1710+7T>CADAMTS18-related disorder [RCV004753341]|not provided [RCV001475982]likely benign167734169777341697Human1name , alternate_id
127289017CV1125643single nucleotide variantNM_199355.4(ADAMTS18):c.1615-8T>Anot provided [RCV001450734]likely benign167734180777341807Humanname
127309179CV1125646single nucleotide variantNM_199355.4(ADAMTS18):c.1460+8A>Gnot provided [RCV001456239]likely benign167735593277355932Humanname
127334221CV1125648duplicationNM_199355.4(ADAMTS18):c.1217-6dupnot provided [RCV001473452]likely benign167735942877359429Humanname
127295087CV1125649single nucleotide variantNM_199355.4(ADAMTS18):c.1056+8G>Anot provided [RCV001477015]likely benign167736379477363794Humanname
127310339CV1125651deletionNM_199355.4(ADAMTS18):c.972+11delnot provided [RCV001463834]likely benign167736417777364177Humanname
127335556CV1146522single nucleotide variantNM_199355.4(ADAMTS18):c.3190-4C>Tnot provided [RCV001491601]likely benign167729148277291482Humanname
127312417CV1146526single nucleotide variantNM_199355.4(ADAMTS18):c.3007-4C>Gnot provided [RCV001501921]likely benign167729326277293262Humanname
127331828CV1146539single nucleotide variantNM_199355.4(ADAMTS18):c.1322+9C>Gnot provided [RCV001489083]likely benign167735930977359309Humanname
127308762CV1157840single nucleotide variantNM_199355.4(ADAMTS18):c.3403-4G>Anot provided [RCV001517630]benign167728941577289415Humanname
127294755CV1157857deletionNM_199355.4(ADAMTS18):c.1615-8delnot provided [RCV001511904]benign167734180777341807Humanname
127312835CV1157861single nucleotide variantNM_199355.4(ADAMTS18):c.1322+8C>Gnot provided [RCV001519076]benign167735931077359310Humanname
150548100CV1314135single nucleotide variantNM_199355.4(ADAMTS18):c.3007-1G>Cnot provided [RCV002541172]likely pathogenic167729325977293259Humanname
151876878CV1345036single nucleotide variantNM_199355.4(ADAMTS18):c.2032+5T>Cnot provided [RCV001999045]uncertain significance167732586177325861Humanname
151724058CV1356921single nucleotide variantNM_199355.4(ADAMTS18):c.3006+1G>Anot provided [RCV001966361]pathogenic|likely pathogenic167729492277294922Humanname
151835743CV1374828single nucleotide variantNM_199355.4(ADAMTS18):c.3403-9C>Anot provided [RCV001920955]likely benign|uncertain significance167728942077289420Humanname
151863409CV1498513single nucleotide variantNM_199355.4(ADAMTS18):c.1614+4T>Cnot provided [RCV001980421]uncertain significance167735372977353729Humanname
151888456CV1502227single nucleotide variantNM_199355.4(ADAMTS18):c.1460+3A>Gnot provided [RCV001942591]uncertain significance167735593777355937Humanname
152060171CV1532846single nucleotide variantNM_199355.4(ADAMTS18):c.2033-4C>Tnot provided [RCV002208558]likely benign167732247077322470Humanname
152146758CV1545746single nucleotide variantNM_199355.4(ADAMTS18):c.1057-3T>Cnot provided [RCV002157552]likely benign167736226777362267Humanname
152072050CV1551579duplicationNM_199355.4(ADAMTS18):c.1615-8dupnot provided [RCV002075237]benign167734180677341807Humanname
152035638CV1553013single nucleotide variantNM_199355.4(ADAMTS18):c.3550+9G>Anot provided [RCV002187440]likely benign167728925577289255Humanname
152125159CV1554019single nucleotide variantNM_199355.4(ADAMTS18):c.2533-6G>Cnot provided [RCV002098717]likely benign167730041077300410Humanname
152083773CV1554783single nucleotide variantNM_199355.4(ADAMTS18):c.1323-4T>Gnot provided [RCV002211767]likely benign167735608177356081Humanname
152096615CV1565998single nucleotide variantNM_199355.4(ADAMTS18):c.179-20C>Gnot provided [RCV002094927]likely benign167743163177431631Humanname
152029865CV1568719single nucleotide variantNM_199355.4(ADAMTS18):c.178+14C>Gnot provided [RCV002186299]likely benign167743440477434404Humanname
152149319CV1569291single nucleotide variantNM_199355.4(ADAMTS18):c.778+20C>Gnot provided [RCV002220549]likely benign167736742177367421Humanname
152157191CV1573159single nucleotide variantNM_199355.4(ADAMTS18):c.1859+9C>Gnot provided [RCV002180280]likely benign167733574777335747Humanname
152113024CV1573412single nucleotide variantNM_199355.4(ADAMTS18):c.2533-7T>Cnot provided [RCV002215752]likely benign167730041177300411Humanname
152118977CV1575939single nucleotide variantNM_199355.4(ADAMTS18):c.3402+8C>Gnot provided [RCV002197787]likely benign167729125877291258Humanname
152077365CV1601847single nucleotide variantNM_199355.4(ADAMTS18):c.2288-7C>Tnot provided [RCV002148863]likely benign167732010077320100Humanname
152108804CV1604015single nucleotide variantNM_199355.4(ADAMTS18):c.179-15C>Gnot provided [RCV002079965]likely benign167743162677431626Humanname
152109133CV1604170single nucleotide variantNM_199355.4(ADAMTS18):c.2163+7G>Tnot provided [RCV002080006]likely benign167732232977322329Humanname
152052228CV1617374single nucleotide variantNM_199355.4(ADAMTS18):c.1217-4A>Tnot provided [RCV002072522]likely benign167735942777359427Humanname
152061833CV1618592single nucleotide variantNM_199355.4(ADAMTS18):c.1711-7T>Cnot provided [RCV002090342]likely benign167733591177335911Humanname
152034086CV1634738single nucleotide variantNM_199355.4(ADAMTS18):c.1217-8T>Gnot provided [RCV002086911]likely benign167735943177359431Humanname
152139259CV1638092single nucleotide variantNM_199355.4(ADAMTS18):c.779-11G>Tnot provided [RCV002177837]likely benign167736439277364392Humanname
152160608CV1650185single nucleotide variantNM_199355.4(ADAMTS18):c.2674+7G>Cnot provided [RCV002159569]likely benign167730025677300256Humanname
152115385CV1653541single nucleotide variantNM_199355.4(ADAMTS18):c.2802-5G>Anot provided [RCV002153589]likely benign167729513277295132Humanname
156164609CV1929909single nucleotide variantNM_199355.4(ADAMTS18):c.1710+8G>Tnot provided [RCV002624503]likely benign167734169677341696Humanname
156228846CV1955902single nucleotide variantNM_199355.4(ADAMTS18):c.778+18T>Gnot provided [RCV002575796]likely benign167736742377367423Humanname
156406610CV1963694single nucleotide variantNM_199355.4(ADAMTS18):c.3189+2T>Anot provided [RCV002585962]likely pathogenic167729307477293074Humanname
156336613CV1988356single nucleotide variantNM_199355.4(ADAMTS18):c.2533-9A>Gnot provided [RCV002631216]likely benign167730041377300413Humanname
156103285CV1992068duplicationNM_199355.4(ADAMTS18):c.178+17dupnot provided [RCV002622294]benign167743440077434401Humanname
156311056CV2000086single nucleotide variantNM_199355.4(ADAMTS18):c.1217-4A>Gnot provided [RCV002671638]uncertain significance167735942777359427Humanname
156359715CV2006942single nucleotide variantNM_199355.4(ADAMTS18):c.495+15G>Anot provided [RCV002676165]likely benign167743128077431280Humanname
156066755CV2018374single nucleotide variantNM_199355.4(ADAMTS18):c.778+15T>Cnot provided [RCV002705555]likely benign167736742677367426Humanname
156044216CV2071823single nucleotide variantNM_199355.4(ADAMTS18):c.2802-9C>Tnot provided [RCV002846214]likely benign167729513677295136Humanname
156086370CV2080064single nucleotide variantNM_199355.4(ADAMTS18):c.972+18A>Gnot provided [RCV002847559]likely benign167736417077364170Humanname
156214750CV2085201single nucleotide variantNM_199355.4(ADAMTS18):c.178+12C>Anot provided [RCV002893943]likely benign167743440677434406Humanname
156261025CV2099116single nucleotide variantNM_199355.4(ADAMTS18):c.3550+1G>Anot provided [RCV002895580]uncertain significance167728926377289263Humanname
156314153CV2107806single nucleotide variantNM_199355.4(ADAMTS18):c.178+18A>Cnot provided [RCV002937342]likely benign167743440077434400Humanname
156243687CV2147572single nucleotide variantNM_199355.4(ADAMTS18):c.3550+3A>Gnot provided [RCV003026099]uncertain significance167728926177289261Humanname
156315916CV2158727single nucleotide variantNM_199355.4(ADAMTS18):c.1216+5G>Anot provided [RCV003028858]uncertain significance167736210077362100Humanname
156228381CV2164849single nucleotide variantNM_199355.4(ADAMTS18):c.2802-8A>GADAMTS18-related disorder [RCV003963564]|not provided [RCV003042990]likely benign167729513577295135Human1name , alternate_id
156021667CV2174250single nucleotide variantNM_199355.4(ADAMTS18):c.2164-5C>Tnot provided [RCV003035760]likely benign167732120777321207Humanname
156342484CV2175026single nucleotide variantNM_199355.4(ADAMTS18):c.2533-1G>Anot provided [RCV003047814]likely pathogenic167730040577300405Humanname
156214254CV2176493single nucleotide variantNM_199355.4(ADAMTS18):c.779-18C>Tnot provided [RCV003024931]likely benign167736439977364399Humanname
156402880CV2189598single nucleotide variantNM_199355.4(ADAMTS18):c.3402+1G>Anot provided [RCV003052486]likely pathogenic167729126577291265Humanname
405223768CV2919170single nucleotide variantNM_199355.4(ADAMTS18):c.1216+4T>Cnot provided [RCV003568821]uncertain significance167736210177362101Humanname
405011907CV2933632single nucleotide variantNM_199355.4(ADAMTS18):c.1711-8T>Gnot provided [RCV003576715]likely benign167733591277335912Humanname
405080907CV2945637duplicationNM_199355.4(ADAMTS18):c.972+11dupnot provided [RCV003664584]benign167736417677364177Humanname
405177279CV2952069single nucleotide variantNM_199355.4(ADAMTS18):c.178+12C>Tnot provided [RCV003675942]likely benign167743440677434406Humanname
405122205CV2952556single nucleotide variantNM_199355.4(ADAMTS18):c.973-10G>Tnot provided [RCV003671554]likely benign167736389577363895Humanname
405218046CV2968628single nucleotide variantNM_199355.4(ADAMTS18):c.3007-6C>Tnot provided [RCV003680284]likely benign167729326477293264Humanname
405203708CV2986170single nucleotide variantNM_199355.4(ADAMTS18):c.3402+2T>Gnot provided [RCV003678464]likely pathogenic167729126477291264Humanname
405025654CV2999855single nucleotide variantNM_199355.4(ADAMTS18):c.1710+9C>Anot provided [RCV003695191]likely benign167734169577341695Humanname
405182690CV3031865single nucleotide variantNM_199355.4(ADAMTS18):c.779-18C>Gnot provided [RCV003705698]likely benign167736439977364399Humanname
405103634CV3116242single nucleotide variantNM_199355.4(ADAMTS18):c.778+17T>Cnot provided [RCV003811958]likely benign167736742477367424Humanname
405131545CV3163725single nucleotide variantNM_199355.4(ADAMTS18):c.973-13A>Cnot provided [RCV003854713]likely benign167736389877363898Humanname
405236188CV3168988single nucleotide variantNM_199355.4(ADAMTS18):c.178+17C>Anot provided [RCV003866267]likely benign167743440177434401Humanname
597856966CV3748113single nucleotide variantNM_199355.4(ADAMTS18):c.3550+9G>Tnot provided [RCV005066935]likely benign167728925577289255Humanname
597925640CV3783194single nucleotide variantNM_199355.4(ADAMTS18):c.2287+7G>Cnot provided [RCV005115880]likely benign167732107277321072Humanname
597963493CV3791968single nucleotide variantNM_199355.4(ADAMTS18):c.1860-9C>Tnot provided [RCV005139524]likely benign167732604777326047Humanname
597951818CV3815439single nucleotide variantNM_199355.4(ADAMTS18):c.178+13C>Tnot provided [RCV005161389]likely benign167743440577434405Humanname
597925981CV3855300single nucleotide variantNM_199355.4(ADAMTS18):c.495+20A>Cnot provided [RCV005205899]likely benign167743127577431275Humanname
15141076CV779774single nucleotide variantNM_199355.4(ADAMTS18):c.3403-4G>Cnot provided [RCV000966247]benign167728941577289415Humanname
38481395CV960178single nucleotide variantNM_199355.4(ADAMTS18):c.3403-9C>Gnot provided [RCV001235098]likely benign|uncertain significance167728942077289420Humanname
127275545CV1082430single nucleotide variantNM_199355.4(ADAMTS18):c.1711-10C>Tnot provided [RCV001406764]likely benign167733591477335914Humanname
127300550CV1125634single nucleotide variantNM_199355.4(ADAMTS18):c.2533-10C>Tnot provided [RCV001478437]likely benign167730041477300414Humanname
127297645CV1125638single nucleotide variantNM_199355.4(ADAMTS18):c.2163+10C>Tnot provided [RCV001453105]likely benign167732232677322326Humanname
127297754CV1146529single nucleotide variantNM_199355.4(ADAMTS18):c.2533-14C>Gnot provided [RCV001497841]likely benign167730041877300418Humanname
127335117CV1146530single nucleotide variantNM_199355.4(ADAMTS18):c.2532+12C>Tnot provided [RCV001491285]likely benign167731983777319837Humanname
127316005CV1146536single nucleotide variantNM_199355.4(ADAMTS18):c.1461-13A>Gnot provided [RCV001482652]likely benign167735389977353899Humanname
127312749CV1157838single nucleotide variantNM_199355.4(ADAMTS18):c.3551-17A>Tnot provided [RCV001519048]benign167728408877284088Humanname
127296484CV1157842single nucleotide variantNM_199355.4(ADAMTS18):c.3190-16C>Gnot provided [RCV001512524]benign167729149477291494Humanname
127296503CV1157848single nucleotide variantNM_199355.4(ADAMTS18):c.2533-20T>Gnot provided [RCV001512529]benign167730042477300424Humanname
127297730CV1157854single nucleotide variantNM_199355.4(ADAMTS18):c.2163+11G>Anot provided [RCV001512990]benign167732232577322325Humanname
127305224CV1157856single nucleotide variantNM_199355.4(ADAMTS18):c.1710+20G>Cnot provided [RCV001516201]benign167734168477341684Humanname
127299370CV1157858single nucleotide variantNM_199355.4(ADAMTS18):c.1615-20C>Tnot provided [RCV001513656]benign167734181977341819Humanname
127293626CV1157862single nucleotide variantNM_199355.4(ADAMTS18):c.1217-10C>Gnot provided [RCV001511409]benign167735943377359433Humanname
152108470CV1520037single nucleotide variantNM_199355.4(ADAMTS18):c.1860-16T>Cnot provided [RCV002134174]likely benign167732605477326054Humanname
152051916CV1521623single nucleotide variantNM_199355.4(ADAMTS18):c.1323-17T>Cnot provided [RCV002145792]likely benign167735609477356094Humanname
152160526CV1522879single nucleotide variantNM_199355.4(ADAMTS18):c.1057-16T>Cnot provided [RCV002140842]likely benign167736228077362280Humanname
152168184CV1524776single nucleotide variantNM_199355.4(ADAMTS18):c.1460+17C>Anot provided [RCV002182355]likely benign167735592377355923Humanname
152091114CV1525822single nucleotide variantNM_199355.4(ADAMTS18):c.2032+15A>Gnot provided [RCV002150600]likely benign167732585177325851Humanname
152141897CV1533026single nucleotide variantNM_199355.4(ADAMTS18):c.3190-19A>Tnot provided [RCV002156882]likely benign167729149777291497Humanname
152142260CV1533121single nucleotide variantNM_199355.4(ADAMTS18):c.3189+19T>Cnot provided [RCV002156925]likely benign167729305777293057Humanname
152077013CV1536312single nucleotide variantNM_199355.4(ADAMTS18):c.2287+16G>Anot provided [RCV002148819]likely benign167732106377321063Humanname
152041473CV1537747single nucleotide variantNM_199355.4(ADAMTS18):c.3190-20C>Tnot provided [RCV002165747]likely benign167729149877291498Humanname
152157217CV1541727single nucleotide variantNM_199355.4(ADAMTS18):c.3189+14G>Anot provided [RCV002103106]likely benign167729306277293062Humanname
152169773CV1546557single nucleotide variantNM_199355.4(ADAMTS18):c.2164-19T>Gnot provided [RCV002142898]likely benign167732122177321221Humanname
152032336CV1548975single nucleotide variantNM_199355.4(ADAMTS18):c.3189+16C>Anot provided [RCV002086557]likely benign167729306077293060Humanname
152119176CV1558397single nucleotide variantNM_199355.4(ADAMTS18):c.3402+14G>Anot provided [RCV002135486]likely benign167729125277291252Humanname
152163330CV1561309single nucleotide variantNM_199355.4(ADAMTS18):c.3007-13T>Cnot provided [RCV002104211]likely benign167729327177293271Humanname
152158814CV1564495single nucleotide variantNM_199355.4(ADAMTS18):c.3007-18C>Gnot provided [RCV002140566]likely benign167729327677293276Humanname
152068670CV1569815single nucleotide variantNM_199355.4(ADAMTS18):c.3403-19C>Gnot provided [RCV002191488]likely benign167728943077289430Humanname
152098204CV1578383single nucleotide variantNM_199355.4(ADAMTS18):c.3190-10T>CADAMTS18-related disorder [RCV003960877]|not provided [RCV002151469]likely benign167729148877291488Human1name , alternate_id
152175854CV1580100single nucleotide variantNM_199355.4(ADAMTS18):c.1323-12A>Gnot provided [RCV002163991]likely benign167735608977356089Humanname
152136194CV1580224single nucleotide variantNM_199355.4(ADAMTS18):c.1711-11T>Gnot provided [RCV002156171]likely benign167733591577335915Humanname
152130091CV1584000single nucleotide variantNM_199355.4(ADAMTS18):c.2288-15C>Gnot provided [RCV002199203]likely benign167732010877320108Humanname
152130202CV1584016single nucleotide variantNM_199355.4(ADAMTS18):c.2032+19C>Tnot provided [RCV002199215]likely benign167732584777325847Humanname
152123074CV1594136deletionNM_199355.4(ADAMTS18):c.2802-15delnot provided [RCV002175836]likely benign167729514277295142Humanname
152112441CV1604238single nucleotide variantNM_199355.4(ADAMTS18):c.3402+16T>Cnot provided [RCV002097036]likely benign167729125077291250Humanname
152162077CV1606262single nucleotide variantNM_199355.4(ADAMTS18):c.1711-14C>Tnot provided [RCV002181106]likely benign167733591877335918Humanname
152063825CV1612157single nucleotide variantNM_199355.4(ADAMTS18):c.3190-11T>Cnot provided [RCV002128688]likely benign167729148977291489Humanname
152042149CV1618004single nucleotide variantNM_199355.4(ADAMTS18):c.2801+10T>Cnot provided [RCV002206488]likely benign167729727977297279Humanname
152140923CV1619628single nucleotide variantNM_199355.4(ADAMTS18):c.3402+13C>Tnot provided [RCV002200562]likely benign167729125377291253Humanname
152069881CV1628267single nucleotide variantNM_199355.4(ADAMTS18):c.2163+15C>Tnot provided [RCV002169156]likely benign167732232177322321Humanname
152062466CV1629744single nucleotide variantNM_199355.4(ADAMTS18):c.2801+16G>Anot provided [RCV002208859]likely benign167729727377297273Humanname
152090215CV1634131single nucleotide variantNM_199355.4(ADAMTS18):c.2288-11T>Gnot provided [RCV002194196]likely benign167732010477320104Humanname
152122589CV1640966single nucleotide variantNM_199355.4(ADAMTS18):c.3550+17C>Anot provided [RCV002098364]likely benign167728924777289247Humanname
152165070CV1648911single nucleotide variantNM_199355.4(ADAMTS18):c.3007-17T>Gnot provided [RCV002204163]likely benign167729327577293275Humanname
152039901CV1649089single nucleotide variantNM_199355.4(ADAMTS18):c.3551-18T>Anot provided [RCV002206188]likely benign167728408977284089Humanname
152157757CV1650922single nucleotide variantNM_199355.4(ADAMTS18):c.1056+15T>Gnot provided [RCV002140392]likely benign167736378777363787Humanname
152143178CV1651439single nucleotide variantNM_199355.4(ADAMTS18):c.1711-13G>Anot provided [RCV002138434]likely benign167733591777335917Humanname
152067664CV1660138single nucleotide variantNM_199355.4(ADAMTS18):c.2802-17T>Anot provided [RCV002147651]likely benign167729514477295144Humanname
152163880CV1662505single nucleotide variantNM_199355.4(ADAMTS18):c.1710+17T>Cnot provided [RCV002141405]likely benign167734168777341687Humanname
156237527CV1952856single nucleotide variantNM_199355.4(ADAMTS18):c.1614+13G>Cnot provided [RCV002576107]likely benign167735372077353720Humanname
156267516CV1957039single nucleotide variantNM_199355.4(ADAMTS18):c.3190-14G>Anot provided [RCV002577053]likely benign167729149277291492Humanname
156268963CV1957097single nucleotide variantNM_199355.4(ADAMTS18):c.2532+18A>Gnot provided [RCV002577098]likely benign167731983177319831Humanname
156407297CV1960536single nucleotide variantNM_199355.4(ADAMTS18):c.3189+13A>Cnot provided [RCV002586185]likely benign167729306377293063Humanname
156183677CV1964383single nucleotide variantNM_199355.4(ADAMTS18):c.3007-18C>Tnot provided [RCV002574191]likely benign167729327677293276Humanname
155917515CV1981002single nucleotide variantNM_199355.4(ADAMTS18):c.1614+18T>Gnot provided [RCV002614388]likely benign167735371577353715Humanname
156415014CV1983132single nucleotide variantNM_199355.4(ADAMTS18):c.1859+13C>Tnot provided [RCV002609471]likely benign167733574377335743Humanname
155998924CV1987058single nucleotide variantNM_199355.4(ADAMTS18):c.1056+13C>Tnot provided [RCV002618355]likely benign167736378977363789Humanname
156323603CV1988625single nucleotide variantNM_199355.4(ADAMTS18):c.2801+20C>Anot provided [RCV002649411]likely benign167729726977297269Humanname
156328778CV1990783single nucleotide variantNM_199355.4(ADAMTS18):c.2033-15T>Gnot provided [RCV002630808]likely benign167732248177322481Humanname
156305975CV1999838single nucleotide variantNM_199355.4(ADAMTS18):c.1056+10A>Cnot provided [RCV002671384]likely benign167736379277363792Humanname
156299372CV2001912single nucleotide variantNM_199355.4(ADAMTS18):c.2801+18G>Anot provided [RCV002671090]likely benign167729727177297271Humanname
156297018CV2005398single nucleotide variantNM_199355.4(ADAMTS18):c.3189+20G>Anot provided [RCV002670992]likely benign167729305677293056Humanname
156319419CV2014368deletionNM_199355.4(ADAMTS18):c.1057-18delnot provided [RCV002672092]likely benign167736228277362282Humanname
156353080CV2015593single nucleotide variantNM_199355.4(ADAMTS18):c.2033-14C>Gnot provided [RCV002720330]likely benign167732248077322480Humanname
156365892CV2020888single nucleotide variantNM_199355.4(ADAMTS18):c.2164-12T>Cnot provided [RCV002721180]likely benign167732121477321214Humanname
155946924CV2028993single nucleotide variantNM_199355.4(ADAMTS18):c.2675-15C>Tnot provided [RCV002730458]likely benign167729743077297430Humanname
156213719CV2037092duplicationNM_199355.4(ADAMTS18):c.1615-17dupnot provided [RCV002790348]benign167734181577341816Humanname
156174603CV2051885single nucleotide variantNM_199355.4(ADAMTS18):c.2533-11A>Tnot provided [RCV002828100]likely benign167730041577300415Humanname
156347292CV2051975single nucleotide variantNM_199355.4(ADAMTS18):c.1860-15T>Cnot provided [RCV002811533]likely benign167732605377326053Humanname
156184029CV2055546single nucleotide variantNM_199355.4(ADAMTS18):c.2032+20A>Gnot provided [RCV002828397]likely benign167732584677325846Humanname
155975705CV2062741single nucleotide variantNM_199355.4(ADAMTS18):c.1710+11T>Anot provided [RCV002842276]likely benign167734169377341693Humanname
156045327CV2093258single nucleotide variantNM_199355.4(ADAMTS18):c.2532+14G>Tnot provided [RCV002867596]likely benign167731983577319835Humanname
156157119CV2096694single nucleotide variantNM_199355.4(ADAMTS18):c.3006+15C>Tnot provided [RCV002872522]likely benign167729490877294908Humanname
156001966CV2103386single nucleotide variantNM_199355.4(ADAMTS18):c.2287+18T>Cnot provided [RCV002908677]likely benign167732106177321061Humanname
156073399CV2163787single nucleotide variantNM_199355.4(ADAMTS18):c.3007-16T>Gnot provided [RCV003020108]likely benign167729327477293274Humanname
156287730CV2192137single nucleotide variantNM_199355.4(ADAMTS18):c.1615-19C>Tnot provided [RCV003045011]likely benign167734181877341818Humanname
405043680CV2859696single nucleotide variantNM_199355.4(ADAMTS18):c.1859+19G>Anot provided [RCV003579301]likely benign167733573777335737Humanname
405207358CV2874148single nucleotide variantNM_199355.4(ADAMTS18):c.2033-14C>Anot provided [RCV003552113]likely benign167732248077322480Humanname
405224232CV2979214single nucleotide variantNM_199355.4(ADAMTS18):c.1216+17T>Cnot provided [RCV003681154]likely benign167736208877362088Humanname
402506067CV3039091single nucleotide variantNM_199355.4(ADAMTS18):c.3403-13C>Gnot provided [RCV003715211]likely benign167728942477289424Humanname
405062279CV3129557single nucleotide variantNM_199355.4(ADAMTS18):c.1615-16T>Cnot provided [RCV003832826]likely benign167734181577341815Humanname
405131634CV3133477single nucleotide variantNM_199355.4(ADAMTS18):c.3190-19A>Cnot provided [RCV003838447]likely benign167729149777291497Humanname
405062911CV3139602single nucleotide variantNM_199355.4(ADAMTS18):c.2533-16A>Gnot provided [RCV003832949]likely benign167730042077300420Humanname
405164935CV3153198single nucleotide variantNM_199355.4(ADAMTS18):c.3550+14A>Gnot provided [RCV003840933]likely benign167728925077289250Humanname
405160937CV3159899single nucleotide variantNM_199355.4(ADAMTS18):c.1860-18C>Gnot provided [RCV003856970]likely benign167732605677326056Humanname
405080749CV3166798single nucleotide variantNM_199355.4(ADAMTS18):c.2288-20G>Anot provided [RCV003851572]likely benign167732011377320113Humanname
597883539CV3741301single nucleotide variantNM_199355.4(ADAMTS18):c.3551-17A>Gnot provided [RCV005070208]likely benign167728408877284088Humanname
597853878CV3747552single nucleotide variantNM_199355.4(ADAMTS18):c.1216+10G>Anot provided [RCV005066563]likely benign167736209577362095Humanname
597939678CV3756855single nucleotide variantNM_199355.4(ADAMTS18):c.3007-14T>Cnot provided [RCV005077236]likely benign167729327277293272Humanname
597902970CV3804473single nucleotide variantNM_199355.4(ADAMTS18):c.2532+20T>Gnot provided [RCV005152908]likely benign167731982977319829Humanname
597938097CV3808174single nucleotide variantNM_199355.4(ADAMTS18):c.3006+19G>Anot provided [RCV005158362]likely benign167729490477294904Humanname
597893319CV3809902single nucleotide variantNM_199355.4(ADAMTS18):c.1860-16T>Gnot provided [RCV005151623]likely benign167732605477326054Humanname
597863871CV3823066single nucleotide variantNM_199355.4(ADAMTS18):c.1614+20C>Tnot provided [RCV005175416]likely benign167735371377353713Humanname
597910477CV3830047single nucleotide variantNM_199355.4(ADAMTS18):c.2801+11T>Gnot provided [RCV005182616]likely benign167729727877297278Humanname
597914555CV3833945single nucleotide variantNM_199355.4(ADAMTS18):c.1710+13C>Anot provided [RCV005183304]likely benign167734169177341691Humanname
597883763CV3834816single nucleotide variantNM_199355.4(ADAMTS18):c.1461-17A>Cnot provided [RCV005178539]likely benign167735390377353903Humanname
8585142CV119723single nucleotide variantNM_199355.2(ADAMTS18):c.2674+691T>CLung cancer [RCV000100243]uncertain significance167729957277299572Humanname
597897757CV3782435single nucleotide variantNM_199355.4(ADAMTS18):c.9C>T (p.Cys3=)not provided [RCV005126660]likely benign167743468777434687Humanname
156242435CV1973269single nucleotide variantNM_199355.4(ADAMTS18):c.24G>T (p.Ala8=)not provided [RCV002597191]likely benign167743467277434672Humanname
127267985CV1104249single nucleotide variantNM_199355.4(ADAMTS18):c.42G>C (p.Ala14=)not provided [RCV001429838]likely benign167743465477434654Humanname
127304966CV1125661single nucleotide variantNM_199355.4(ADAMTS18):c.69G>A (p.Ala23=)ADAMTS18-related disorder [RCV003955994]|not provided [RCV001455121]likely benign167743462777434627Human1name , alternate_id
127291845CV1157870single nucleotide variantNM_199355.4(ADAMTS18):c.96C>T (p.Leu32=)not provided [RCV001510576]benign167743450077434500Humanname
152118535CV1600541single nucleotide variantNM_199355.4(ADAMTS18):c.73C>T (p.Leu25=)not provided [RCV002153957]likely benign167743462377434623Humanname
156277666CV2011329single nucleotide variantNM_199355.4(ADAMTS18):c.33C>T (p.Phe11=)not provided [RCV002715191]likely benign167743466377434663Humanname
402485723CV2931652single nucleotide variantNM_199355.4(ADAMTS18):c.93G>A (p.Ala31=)not provided [RCV003572508]likely benign167743450377434503Humanname
405146003CV3151997deletionNM_199355.4(ADAMTS18):c.972+18_972+22delnot provided [RCV003855968]likely benign167736416677364170Humanname
597941229CV3757360single nucleotide variantNM_199355.4(ADAMTS18):c.57G>C (p.Pro19=)not provided [RCV005077546]likely benign167743463977434639Humanname
597969240CV3791286single nucleotide variantNM_199355.4(ADAMTS18):c.93G>C (p.Ala31=)not provided [RCV005141318]likely benign167743450377434503Humanname
38474039CV927953single nucleotide variantNM_199355.4(ADAMTS18):c.8G>A (p.Cys3Tyr)not provided [RCV001214572]uncertain significance167743468877434688Humanname
126725369CV1032903single nucleotide variantNM_199355.4(ADAMTS18):c.23C>T (p.Ala8Val)not provided [RCV001348129]uncertain significance167743467377434673Humanname
127233091CV1082443single nucleotide variantNM_199355.4(ADAMTS18):c.234C>T (p.His78=)not provided [RCV001395990]likely benign167743155677431556Humanname
127254441CV1104248single nucleotide variantNM_199355.4(ADAMTS18):c.147C>T (p.Asp49=)not provided [RCV001426302]likely benign167743444977434449Humanname
127332071CV1125659single nucleotide variantNM_199355.4(ADAMTS18):c.228T>C (p.Ile76=)not provided [RCV001471978]likely benign167743156277431562Humanname
127333020CV1125660single nucleotide variantNM_199355.4(ADAMTS18):c.135C>G (p.Ala45=)not provided [RCV001472628]likely benign167743446177434461Humanname
127307340CV1157869single nucleotide variantNM_199355.4(ADAMTS18):c.270G>A (p.Ala90=)not provided [RCV001517063]benign167743152077431520Humanname
152133686CV1545082single nucleotide variantNM_199355.4(ADAMTS18):c.252C>T (p.Gly84=)not provided [RCV002177141]likely benign167743153877431538Humanname
152104193CV1570082single nucleotide variantNM_199355.4(ADAMTS18):c.249C>T (p.Asn83=)not provided [RCV002195936]likely benign167743154177431541Humanname
152040588CV1577613single nucleotide variantNM_199355.4(ADAMTS18):c.195G>A (p.Thr65=)not provided [RCV002107681]likely benign167743159577431595Humanname
152136713CV1580302single nucleotide variantNM_199355.4(ADAMTS18):c.123G>A (p.Ser41=)not provided [RCV002156232]likely benign167743447377434473Humanname
152107443CV1581903single nucleotide variantNM_199355.4(ADAMTS18):c.294C>T (p.His98=)not provided [RCV002079797]likely benign167743149677431496Humanname
152059417CV1595970single nucleotide variantNM_199355.4(ADAMTS18):c.216C>T (p.Ala72=)not provided [RCV002090072]likely benign167743157477431574Humanname
152089777CV1634063single nucleotide variantNM_199355.4(ADAMTS18):c.114C>T (p.Cys38=)not provided [RCV002194147]likely benign167743448277434482Humanname
152054702CV1637096single nucleotide variantNM_199355.4(ADAMTS18):c.207A>G (p.Val69=)not provided [RCV002207936]likely benign167743158377431583Humanname
155901686CV1999106single nucleotide variantNM_199355.4(ADAMTS18):c.195G>C (p.Thr65=)not provided [RCV002681140]likely benign167743159577431595Humanname
156365504CV2010700single nucleotide variantNM_199355.4(ADAMTS18):c.291G>C (p.Leu97=)not provided [RCV002676533]likely benign167743149977431499Humanname
156002451CV2014819single nucleotide variantNM_199355.4(ADAMTS18):c.129C>T (p.Ala43=)not provided [RCV002690120]likely benign167743446777434467Humanname
156088744CV2017376single nucleotide variantNM_199355.4(ADAMTS18):c.210C>T (p.Asp70=)not provided [RCV002694865]likely benign167743158077431580Humanname
405147539CV2960005single nucleotide variantNM_199355.4(ADAMTS18):c.102G>A (p.Leu34=)not provided [RCV003669754]likely benign167743449477434494Humanname
405124300CV3021005single nucleotide variantNM_199355.4(ADAMTS18):c.264A>G (p.Arg88=)not provided [RCV003700980]likely benign167743152677431526Humanname
405292476CV3196383single nucleotide variantNM_199355.4(ADAMTS18):c.195G>T (p.Thr65=)ADAMTS18-related disorder [RCV003964527]|not provided [RCV005064904]likely benign167743159577431595Human1name , alternate_id
405294667CV3204361single nucleotide variantNM_199355.4(ADAMTS18):c.159C>T (p.Gly53=)ADAMTS18-related disorder [RCV003934584]likely benign167743443777434437Humanname , trait , alternate_id
405657176CV3305522single nucleotide variantNM_199355.4(ADAMTS18):c.22G>T (p.Ala8Ser)Inborn genetic diseases [RCV004437803]uncertain significance167743467477434674Human1name
597963628CV3754185single nucleotide variantNM_199355.4(ADAMTS18):c.267G>A (p.Ser89=)not provided [RCV005082292]likely benign167743152377431523Humanname
597926372CV3783298single nucleotide variantNM_199355.4(ADAMTS18):c.237C>T (p.Asp79=)not provided [RCV005115984]likely benign167743155377431553Humanname
15179324CV740364single nucleotide variantNM_199355.4(ADAMTS18):c.216C>G (p.Ala72=)not provided [RCV000907082]benign167743157477431574Humanname
15099964CV771069single nucleotide variantNM_199355.4(ADAMTS18):c.225T>C (p.Tyr75=)not provided [RCV000936563]likely benign167743156577431565Humanname
126726172CV1032902single nucleotide variantNM_199355.4(ADAMTS18):c.92C>T (p.Ala31Val)not provided [RCV001348376]uncertain significance167743450477434504Humanname
126916922CV1049886single nucleotide variantNM_199355.4(ADAMTS18):c.68C>T (p.Ala23Val)not provided [RCV001371778]uncertain significance167743462877434628Humanname
127238391CV1082437single nucleotide variantNM_199355.4(ADAMTS18):c.894C>T (p.Leu298=)ADAMTS18-related disorder [RCV003920866]|not provided [RCV001392465]likely benign167736426677364266Human1name , alternate_id
127240338CV1082438single nucleotide variantNM_199355.4(ADAMTS18):c.873G>A (p.Lys291=)not provided [RCV001415539]likely benign167736428777364287Humanname
127230961CV1082439single nucleotide variantNM_199355.4(ADAMTS18):c.702T>C (p.His234=)not provided [RCV001412822]likely benign167736751777367517Humanname
127256923CV1082440single nucleotide variantNM_199355.4(ADAMTS18):c.639G>A (p.Arg213=)not provided [RCV001401338]likely benign167736758077367580Humanname
127249316CV1082441single nucleotide variantNM_199355.4(ADAMTS18):c.633C>A (p.Ile211=)not provided [RCV001399574]likely benign167736758677367586Humanname
127238931CV1082442single nucleotide variantNM_199355.4(ADAMTS18):c.348G>A (p.Ala116=)not provided [RCV001397416]likely benign167743144277431442Humanname
127284495CV1104239single nucleotide variantNM_199355.4(ADAMTS18):c.996G>T (p.Gly332=)not provided [RCV001449512]likely benign167736386277363862Humanname
127251527CV1104240single nucleotide variantNM_199355.4(ADAMTS18):c.982C>T (p.Leu328=)not provided [RCV001436577]likely benign167736387677363876Humanname
127259866CV1104241single nucleotide variantNM_199355.4(ADAMTS18):c.715C>A (p.Arg239=)not provided [RCV001427681]likely benign167736750477367504Humanname
127270103CV1104244single nucleotide variantNM_199355.4(ADAMTS18):c.585G>A (p.Ala195=)not provided [RCV001441324]likely benign167736763477367634Humanname
127261303CV1104245single nucleotide variantNM_199355.4(ADAMTS18):c.516A>G (p.Arg172=)not provided [RCV001438755]likely benign167736770377367703Humanname
127249338CV1104246single nucleotide variantNM_199355.4(ADAMTS18):c.390T>C (p.Asp130=)not provided [RCV001436070]likely benign167743140077431400Humanname
127330565CV1125650single nucleotide variantNM_199355.4(ADAMTS18):c.993T>C (p.Asp331=)not provided [RCV001470932]likely benign167736386577363865Humanname
127313708CV1125652single nucleotide variantNM_199355.4(ADAMTS18):c.942C>A (p.Val314=)not provided [RCV001464737]likely benign167736421877364218Humanname
127325613CV1125653single nucleotide variantNM_199355.4(ADAMTS18):c.813A>C (p.Leu271=)not provided [RCV001468559]likely benign167736434777364347Humanname
127302112CV1125655single nucleotide variantNM_199355.4(ADAMTS18):c.693C>T (p.His231=)not provided [RCV001461547]likely benign167736752677367526Humanname
127300939CV1125656single nucleotide variantNM_199355.4(ADAMTS18):c.657C>G (p.Gly219=)not provided [RCV001454016]likely benign167736756277367562Humanname
127295980CV1125657single nucleotide variantNM_199355.4(ADAMTS18):c.654C>T (p.Pro218=)ADAMTS18-related disorder [RCV003946183]|not provided [RCV001452651]likely benign167736756577367565Human1name , alternate_id
127326115CV1125658single nucleotide variantNM_199355.4(ADAMTS18):c.381T>A (p.Leu127=)not provided [RCV001468672]likely benign167743140977431409Humanname
127303825CV1146542single nucleotide variantNM_199355.4(ADAMTS18):c.654C>A (p.Pro218=)not provided [RCV001479330]likely benign167736756577367565Humanname
127317157CV1146543single nucleotide variantNM_199355.4(ADAMTS18):c.423G>A (p.Gln141=)not provided [RCV001483079]likely benign167743136777431367Humanname
127301178CV1157864single nucleotide variantNM_199355.4(ADAMTS18):c.957C>G (p.Leu319=)not provided [RCV001514531]benign167736420377364203Humanname
127313120CV1157865single nucleotide variantNM_199355.4(ADAMTS18):c.600C>T (p.His200=)not provided [RCV001519163]benign167736761977367619Humanname
127316449CV1157866single nucleotide variantNM_199355.4(ADAMTS18):c.573C>T (p.Tyr191=)not provided [RCV001520495]benign167736764677367646Humanname
127308344CV1157868single nucleotide variantNM_199355.4(ADAMTS18):c.471C>T (p.Val157=)not provided [RCV001517471]benign167743131977431319Humanname
151770745CV1340076single nucleotide variantNM_199355.4(ADAMTS18):c.68C>A (p.Ala23Glu)not provided [RCV001874422]uncertain significance167743462877434628Humanname
151877735CV1342335single nucleotide variantNM_199355.4(ADAMTS18):c.41C>T (p.Ala14Val)not provided [RCV001961251]uncertain significance167743465577434655Humanname
151808055CV1407000single nucleotide variantNM_199355.4(ADAMTS18):c.49G>A (p.Gly17Ser)not provided [RCV002048590]uncertain significance167743464777434647Humanname
151752069CV1412406single nucleotide variantNM_199355.4(ADAMTS18):c.37G>A (p.Ala13Thr)not provided [RCV001927618]uncertain significance167743465977434659Humanname
151842179CV1433118single nucleotide variantNM_199355.4(ADAMTS18):c.70G>A (p.Gly24Arg)not provided [RCV001994889]uncertain significance167743462677434626Humanname
151713844CV1473213single nucleotide variantNM_199355.4(ADAMTS18):c.43G>T (p.Gly15Cys)not provided [RCV001889929]uncertain significance167743465377434653Humanname
151871050CV1488703single nucleotide variantNM_199355.4(ADAMTS18):c.29C>T (p.Ala10Val)not provided [RCV002035671]uncertain significance167743466777434667Humanname
151722822CV1500122single nucleotide variantNM_199355.4(ADAMTS18):c.34C>T (p.Pro12Ser)not provided [RCV001909974]uncertain significance167743466277434662Humanname
151770572CV1504340single nucleotide variantNM_199355.4(ADAMTS18):c.35C>T (p.Pro12Leu)not provided [RCV002045204]uncertain significance167743466177434661Humanname
152037292CV1524873single nucleotide variantNM_199355.4(ADAMTS18):c.345G>A (p.Ser115=)not provided [RCV002165162]likely benign167743144577431445Humanname
152117458CV1566636single nucleotide variantNM_199355.4(ADAMTS18):c.372C>T (p.Val124=)not provided [RCV002153833]likely benign167743141877431418Humanname
152167000CV1577336single nucleotide variantNM_199355.4(ADAMTS18):c.996G>C (p.Gly332=)not provided [RCV002204597]likely benign167736386277363862Humanname
152066832CV1579008single nucleotide variantNM_199355.4(ADAMTS18):c.516A>T (p.Arg172=)not provided [RCV002074564]likely benign167736770377367703Humanname
152159581CV1589820single nucleotide variantNM_199355.4(ADAMTS18):c.984A>G (p.Leu328=)not provided [RCV002203200]likely benign167736387477363874Humanname
152039537CV1592771single nucleotide variantNM_199355.4(ADAMTS18):c.465C>T (p.Ser155=)not provided [RCV002188048]likely benign167743132577431325Humanname
152084387CV1617036single nucleotide variantNM_199355.4(ADAMTS18):c.387A>G (p.Lys129=)not provided [RCV002076793]likely benign167743140377431403Humanname
152053093CV1619263single nucleotide variantNM_199355.4(ADAMTS18):c.742T>C (p.Leu248=)not provided [RCV002167115]likely benign167736747777367477Humanname
152158643CV1630797single nucleotide variantNM_199355.4(ADAMTS18):c.834C>T (p.Ser278=)not provided [RCV002122805]benign167736432677364326Humanname
152071626CV1633805single nucleotide variantNM_199355.4(ADAMTS18):c.591C>T (p.His197=)not provided [RCV002191857]likely benign167736762877367628Humanname
152034861CV1635044single nucleotide variantNM_199355.4(ADAMTS18):c.765A>G (p.Gly255=)not provided [RCV002087044]likely benign167736745477367454Humanname
152094730CV1661512single nucleotide variantNM_199355.4(ADAMTS18):c.339G>A (p.Lys113=)not provided [RCV002172297]likely benign167743145177431451Humanname
156148947CV1878835single nucleotide variantNM_199355.4(ADAMTS18):c.40G>A (p.Ala14Thr)not provided [RCV003056463]uncertain significance167743465677434656Humanname
156226495CV1896405single nucleotide variantNM_199355.4(ADAMTS18):c.52C>G (p.Pro18Ala)not provided [RCV003085195]uncertain significance167743464477434644Humanname
156120332CV1969144single nucleotide variantNM_199355.4(ADAMTS18):c.570C>T (p.Asn190=)not provided [RCV002593103]likely benign167736764977367649Humanname
156241180CV1973213single nucleotide variantNM_199355.4(ADAMTS18):c.516A>C (p.Arg172=)not provided [RCV002597151]likely benign167736770377367703Humanname
156419523CV1977320single nucleotide variantNM_199355.4(ADAMTS18):c.537G>A (p.Ser179=)not provided [RCV002612760]likely benign167736768277367682Humanname
155911068CV1980164single nucleotide variantNM_199355.4(ADAMTS18):c.714T>C (p.Ser238=)not provided [RCV002613994]likely benign167736750577367505Humanname
156399276CV1984843single nucleotide variantNM_199355.4(ADAMTS18):c.726G>A (p.Glu242=)not provided [RCV002605445]likely benign167736749377367493Humanname
155973574CV2021846single nucleotide variantNM_199355.4(ADAMTS18):c.684C>A (p.Ser228=)not provided [RCV002755004]likely benign167736753577367535Humanname
156376836CV2024803single nucleotide variantNM_199355.4(ADAMTS18):c.514C>A (p.Arg172=)not provided [RCV002721994]likely benign167736770577367705Humanname
155950469CV2026183single nucleotide variantNM_199355.4(ADAMTS18):c.441A>G (p.Gly147=)not provided [RCV002730655]likely benign167743134977431349Humanname
155956425CV2033440single nucleotide variantNM_199355.4(ADAMTS18):c.576C>T (p.Ser192=)not provided [RCV002730951]likely benign167736764377367643Humanname
156004233CV2057644single nucleotide variantNM_199355.4(ADAMTS18):c.477G>A (p.Val159=)not provided [RCV002819799]likely benign167743131377431313Humanname
155951094CV2084515single nucleotide variantNM_199355.4(ADAMTS18):c.553C>T (p.Leu185=)not provided [RCV002880505]likely benign167736766677367666Humanname
156111782CV2117327single nucleotide variantNM_199355.4(ADAMTS18):c.309A>G (p.Ala103=)not provided [RCV002953145]likely benign167743148177431481Humanname
155918985CV2152686single nucleotide variantNM_199355.4(ADAMTS18):c.399A>T (p.Ser133=)not provided [RCV002991805]likely benign167743139177431391Humanname
156355274CV2188723single nucleotide variantNM_199355.4(ADAMTS18):c.68C>G (p.Ala23Gly)not provided [RCV003048640]uncertain significance167743462877434628Humanname
156355672CV2188789single nucleotide variantNM_199355.4(ADAMTS18):c.300A>G (p.Arg100=)not provided [RCV003048666]likely benign167743149077431490Humanname
405061999CV2926419single nucleotide variantNM_199355.4(ADAMTS18):c.963A>T (p.Val321=)not provided [RCV003580542]likely benign167736419777364197Humanname
405220144CV2969619single nucleotide variantNM_199355.4(ADAMTS18):c.948A>G (p.Thr316=)not provided [RCV003680556]likely benign167736421277364212Humanname
405213243CV2971256single nucleotide variantNM_199355.4(ADAMTS18):c.807C>G (p.Thr269=)not provided [RCV003679684]likely benign167736435377364353Humanname
405077025CV3008066deletionNM_199355.4(ADAMTS18):c.3402+20_3402+41delnot provided [RCV003716820]likely benign167729122577291246Humanname
402500699CV3035346single nucleotide variantNM_199355.4(ADAMTS18):c.540A>G (p.Pro180=)not provided [RCV003714706]likely benign167736767977367679Humanname
405235338CV3040859single nucleotide variantNM_199355.4(ADAMTS18):c.561G>A (p.Gln187=)not provided [RCV003712249]likely benign167736765877367658Humanname
405149327CV3162778single nucleotide variantNM_199355.4(ADAMTS18):c.664C>A (p.Arg222=)not provided [RCV003856221]likely benign167736755577367555Humanname
405237993CV3166994single nucleotide variantNM_199355.4(ADAMTS18):c.300A>T (p.Arg100=)not provided [RCV003854249]likely benign167743149077431490Humanname
405684953CV3235620single nucleotide variantNM_199355.4(ADAMTS18):c.34C>A (p.Pro12Thr)Inborn genetic diseases [RCV004372134]uncertain significance167743466277434662Human1name
407455483CV3422706single nucleotide variantNM_199355.4(ADAMTS18):c.50G>A (p.Gly17Asp)Inborn genetic diseases [RCV004610334]uncertain significance167743464677434646Human1name
12850047CV364202single nucleotide variantNM_199355.4(ADAMTS18):c.35C>G (p.Pro12Arg)not provided [RCV000440708]benign|likely benign167743466177434661Humanname
597655361CV3649028single nucleotide variantNM_199355.4(ADAMTS18):c.41C>A (p.Ala14Glu)Inborn genetic diseases [RCV004976364]uncertain significance167743465577434655Human1name
597655375CV3649042single nucleotide variantNM_199355.4(ADAMTS18):c.43G>C (p.Gly15Arg)Inborn genetic diseases [RCV004976366]uncertain significance167743465377434653Human1name
597835050CV3739607single nucleotide variantNM_199355.4(ADAMTS18):c.633C>T (p.Ile211=)not provided [RCV005063826]likely benign167736758677367586Humanname
597906742CV3842895single nucleotide variantNM_199355.4(ADAMTS18):c.786C>G (p.Pro262=)not provided [RCV005182203]likely benign167736437477364374Humanname
598178857CV3947530single nucleotide variantNM_199355.4(ADAMTS18):c.82G>A (p.Val28Met)Inborn genetic diseases [RCV005310415]uncertain significance167743461477434614Human1name
15179939CV726799single nucleotide variantNM_199355.4(ADAMTS18):c.483G>A (p.Thr161=)not provided [RCV000885408]benign167743130777431307Humanname
15172036CV740362single nucleotide variantNM_199355.4(ADAMTS18):c.936A>G (p.Gly312=)not provided [RCV000905589]likely benign167736422477364224Humanname
8621909CV76948single nucleotide variantNM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter)Microcornea-myopic chorioretinal atrophy [RCV000056281]pathogenic167743449977434499Human1name
26920162CV844332single nucleotide variantNM_199355.4(ADAMTS18):c.56C>T (p.Pro19Leu)Inborn genetic diseases [RCV003363070]|not provided [RCV001047079]uncertain significance167743464077434640Human1name
26915064CV844333single nucleotide variantNM_199355.4(ADAMTS18):c.37G>C (p.Ala13Pro)Retinal dystrophy [RCV004818202]|not provided [RCV001038489]conflicting interpretations of pathogenicity|uncertain significance167743465977434659Human2name
38471020CV937620single nucleotide variantNM_199355.4(ADAMTS18):c.94C>T (p.Leu32Phe)not provided [RCV001213686]uncertain significance167743450277434502Humanname
38464863CV937621single nucleotide variantNM_199355.4(ADAMTS18):c.28G>A (p.Ala10Thr)not provided [RCV001212553]uncertain significance167743466877434668Humanname
126748688CV1012419single nucleotide variantNM_199355.4(ADAMTS18):c.215C>T (p.Ala72Val)not provided [RCV001326388]uncertain significance167743157577431575Humanname
126730132CV1032898single nucleotide variantNM_199355.4(ADAMTS18):c.234C>A (p.His78Gln)not provided [RCV001349218]uncertain significance167743155677431556Humanname
126764634CV1032899single nucleotide variantNM_199355.4(ADAMTS18):c.230C>T (p.Ser77Leu)not provided [RCV001341727]uncertain significance167743156077431560Humanname
126735150CV1032900single nucleotide variantNM_199355.4(ADAMTS18):c.116G>C (p.Cys39Ser)not provided [RCV001350052]uncertain significance167743448077434480Humanname
126733325CV1032901single nucleotide variantNM_199355.4(ADAMTS18):c.113G>A (p.Cys38Tyr)not provided [RCV001349761]uncertain significance167743448377434483Humanname
126922160CV1049884single nucleotide variantNM_199355.4(ADAMTS18):c.184G>A (p.Val62Ile)not provided [RCV001364341]uncertain significance167743160677431606Humanname
126917900CV1049885single nucleotide variantNM_199355.4(ADAMTS18):c.166G>A (p.Gly56Arg)not provided [RCV001361426]uncertain significance167743443077434430Humanname
127251869CV1063749deletionNM_199355.4(ADAMTS18):c.916del (p.Val306fs)not provided [RCV001385585]pathogenic167736424477364244Humanname
127271971CV1063751duplicationNM_199355.4(ADAMTS18):c.589dup (p.His197fs)not provided [RCV001390323]pathogenic167736762977367630Humanname
127279177CV1082425single nucleotide variantNM_199355.4(ADAMTS18):c.2448G>A (p.Gly816=)not provided [RCV001408929]likely benign167731993377319933Humanname
127234119CV1082426single nucleotide variantNM_199355.4(ADAMTS18):c.2367C>T (p.Leu789=)not provided [RCV001396368]likely benign167732001477320014Humanname
127247680CV1082427single nucleotide variantNM_199355.4(ADAMTS18):c.2262G>A (p.Leu754=)not provided [RCV001399173]likely benign167732110477321104Humanname
127238742CV1082431single nucleotide variantNM_199355.4(ADAMTS18):c.1602T>C (p.Leu534=)not provided [RCV001397381]likely benign167735374577353745Humanname
127252655CV1082432single nucleotide variantNM_199355.4(ADAMTS18):c.1500A>G (p.Gln500=)not provided [RCV001400392]likely benign167735384777353847Humanname
127254570CV1082434single nucleotide variantNM_199355.4(ADAMTS18):c.1473G>A (p.Ala491=)not provided [RCV001400832]likely benign167735387477353874Humanname
127280316CV1082435single nucleotide variantNM_199355.4(ADAMTS18):c.1437C>T (p.Arg479=)not provided [RCV001409712]likely benign167735596377355963Humanname
127266607CV1104226single nucleotide variantNM_199355.4(ADAMTS18):c.2793C>T (p.Cys931=)not provided [RCV001429434]likely benign167729729777297297Humanname
127276233CV1104227single nucleotide variantNM_199355.4(ADAMTS18):c.2781C>T (p.Asn927=)ADAMTS18-related disorder [RCV003955967]|not provided [RCV001443722]likely benign167729730977297309Human1name , alternate_id
127283193CV1104228single nucleotide variantNM_199355.4(ADAMTS18):c.2241T>G (p.Thr747=)not provided [RCV001448355]likely benign167732112577321125Humanname
127253624CV1104229single nucleotide variantNM_199355.4(ADAMTS18):c.2094C>T (p.Ser698=)not provided [RCV001426093]likely benign167732240577322405Humanname
127242947CV1104230single nucleotide variantNM_199355.4(ADAMTS18):c.1767C>T (p.His589=)not provided [RCV001423845]likely benign167733584877335848Humanname
127273067CV1104231single nucleotide variantNM_199355.4(ADAMTS18):c.1656G>A (p.Arg552=)not provided [RCV001442410]likely benign167734175877341758Humanname
127263546CV1104232single nucleotide variantNM_199355.4(ADAMTS18):c.1644A>C (p.Arg548=)not provided [RCV001428588]likely benign167734177077341770Humanname
127274911CV1104233single nucleotide variantNM_199355.4(ADAMTS18):c.1512T>C (p.Tyr504=)not provided [RCV001432116]likely benign167735383577353835Humanname
127247265CV1104234single nucleotide variantNM_199355.4(ADAMTS18):c.1503A>T (p.Ala501=)not provided [RCV001435597]likely benign167735384477353844Humanname
127277756CV1104235single nucleotide variantNM_199355.4(ADAMTS18):c.1428C>A (p.Ser476=)not provided [RCV001444607]likely benign167735597277355972Humanname
127253260CV1104236single nucleotide variantNM_199355.4(ADAMTS18):c.1314A>G (p.Ser438=)not provided [RCV001436975]likely benign167735932677359326Humanname
127246380CV1104238single nucleotide variantNM_199355.4(ADAMTS18):c.1066T>C (p.Leu356=)not provided [RCV001424506]likely benign167736225577362255Humanname
127309019CV1125632single nucleotide variantNM_199355.4(ADAMTS18):c.2907A>C (p.Ala969=)ADAMTS18-related disorder [RCV003965904]|not provided [RCV001456206]likely benign167729502277295022Human1name , alternate_id
127329422CV1125635single nucleotide variantNM_199355.4(ADAMTS18):c.2466G>A (p.Gln822=)not provided [RCV001470202]likely benign167731991577319915Humanname
127303975CV1125636single nucleotide variantNM_199355.4(ADAMTS18):c.2409C>A (p.Gly803=)ADAMTS18-related disorder [RCV003955993]|not provided [RCV001454873]likely benign167731997277319972Human1name , alternate_id
127295274CV1125637single nucleotide variantNM_199355.4(ADAMTS18):c.2319C>T (p.Gly773=)not provided [RCV001452456]likely benign167732006277320062Humanname
127334472CV1125642single nucleotide variantNM_199355.4(ADAMTS18):c.1654A>C (p.Arg552=)not provided [RCV001473582]likely benign167734176077341760Humanname
127288452CV1125644single nucleotide variantNM_199355.4(ADAMTS18):c.1591T>C (p.Leu531=)not provided [RCV001450483]likely benign167735375677353756Humanname
127332753CV1125645single nucleotide variantNM_199355.4(ADAMTS18):c.1545T>C (p.Tyr515=)ADAMTS18-related disorder [RCV003920998]|not provided [RCV001472465]likely benign167735380277353802Human1name , alternate_id
127313475CV1125647single nucleotide variantNM_199355.4(ADAMTS18):c.1443T>C (p.Tyr481=)not provided [RCV001464688]likely benign167735595777355957Humanname
127334403CV1146527single nucleotide variantNM_199355.4(ADAMTS18):c.2622T>C (p.Pro874=)not provided [RCV001490799]likely benign167730031577300315Humanname
127324322CV1146528single nucleotide variantNM_199355.4(ADAMTS18):c.2598A>G (p.Gly866=)not provided [RCV001485456]likely benign167730033977300339Humanname
127286377CV1146531single nucleotide variantNM_199355.4(ADAMTS18):c.2016C>G (p.Pro672=)not provided [RCV001494131]likely benign167732588277325882Humanname
127318176CV1146532single nucleotide variantNM_199355.4(ADAMTS18):c.1929C>T (p.Cys643=)not provided [RCV001503581]likely benign167732596977325969Humanname
127330872CV1146533single nucleotide variantNM_199355.4(ADAMTS18):c.1812A>G (p.Thr604=)not provided [RCV001488423]likely benign167733580377335803Humanname
127333653CV1146534single nucleotide variantNM_199355.4(ADAMTS18):c.1653C>T (p.His551=)not provided [RCV001490310]likely benign167734176177341761Humanname
127287933CV1146535single nucleotide variantNM_199355.4(ADAMTS18):c.1590G>A (p.Lys530=)not provided [RCV001495042]likely benign167735375777353757Humanname
127335061CV1146537single nucleotide variantNM_199355.4(ADAMTS18):c.1398C>A (p.Thr466=)not provided [RCV001491257]likely benign167735600277356002Humanname
127325972CV1146538single nucleotide variantNM_199355.4(ADAMTS18):c.1374C>G (p.Gly458=)not provided [RCV001506143]likely benign167735602677356026Humanname
127297143CV1146540single nucleotide variantNM_199355.4(ADAMTS18):c.1017C>T (p.Asn339=)ADAMTS18-related disorder [RCV003931018]|not provided [RCV001497708]likely benign167736384177363841Human1name , alternate_id
127302341CV1157846single nucleotide variantNM_199355.4(ADAMTS18):c.2931G>A (p.Val977=)not provided [RCV001515018]benign167729499877294998Humanname
127293392CV1157851single nucleotide variantNM_199355.4(ADAMTS18):c.2460A>G (p.Glu820=)not provided [RCV001511335]benign167731992177319921Humanname
127313748CV1157853single nucleotide variantNM_199355.4(ADAMTS18):c.2298G>A (p.Pro766=)ADAMTS18-related disorder [RCV003956194]|not provided [RCV001519362]benign|likely benign167732008377320083Human1name , alternate_id
127318090CV1157859single nucleotide variantNM_199355.4(ADAMTS18):c.1464A>C (p.Thr488=)not provided [RCV001521490]benign167735388377353883Humanname
127312829CV1157860single nucleotide variantNM_199355.4(ADAMTS18):c.1341T>C (p.Asp447=)not provided [RCV001519075]|not specified [RCV001529250]likely pathogenic|benign167735605977356059Humanname
151843474CV1339282single nucleotide variantNM_199355.4(ADAMTS18):c.109C>T (p.Leu37Phe)not provided [RCV001977985]uncertain significance167743448777434487Humanname
151803557CV1351829single nucleotide variantNM_199355.4(ADAMTS18):c.217G>A (p.Gly73Arg)not provided [RCV001974128]uncertain significance167743157377431573Humanname
151885027CV1364231single nucleotide variantNM_199355.4(ADAMTS18):c.230C>G (p.Ser77Ter)not provided [RCV002037673]pathogenic167743156077431560Humanname
151877191CV1390474single nucleotide variantNM_199355.4(ADAMTS18):c.131C>G (p.Ala44Gly)not provided [RCV001940545]uncertain significance167743446577434465Humanname
151882086CV1402420single nucleotide variantNM_199355.4(ADAMTS18):c.266C>T (p.Ser89Leu)Inborn genetic diseases [RCV003355584]|not provided [RCV001961847]uncertain significance167743152477431524Human1name
151859895CV1403794single nucleotide variantNM_199355.4(ADAMTS18):c.165C>A (p.Ser55Arg)not provided [RCV001979991]uncertain significance167743443177434431Humanname
151801058CV1404065single nucleotide variantNM_199355.4(ADAMTS18):c.221C>T (p.Ser74Leu)not provided [RCV001973912]uncertain significance167743156977431569Humanname
151871081CV1413562single nucleotide variantNM_199355.4(ADAMTS18):c.118G>C (p.Ala40Pro)not provided [RCV001998345]uncertain significance167743447877434478Humanname
151792761CV1420372single nucleotide variantNM_199355.4(ADAMTS18):c.274A>G (p.Asn92Asp)not provided [RCV002027377]uncertain significance167743151677431516Humanname
151739416CV1429141single nucleotide variantNM_199355.4(ADAMTS18):c.293A>G (p.His98Arg)not provided [RCV002022173]uncertain significance167743149777431497Humanname
151824376CV1506937deletionNM_199355.4(ADAMTS18):c.654del (p.Gly219fs)not provided [RCV001955077]pathogenic167736756577367565Humanname
151718109CV1513409single nucleotide variantNM_199355.4(ADAMTS18):c.194C>T (p.Thr65Met)Retinal dystrophy [RCV004815721]|not provided [RCV001890650]uncertain significance167743159677431596Human2name
152140776CV1520391single nucleotide variantNM_199355.4(ADAMTS18):c.1338C>T (p.His446=)not provided [RCV002178030]likely benign167735606277356062Humanname
152130599CV1523458single nucleotide variantNM_199355.4(ADAMTS18):c.2536C>T (p.Leu846=)not provided [RCV002136872]benign167730040177300401Humanname
152103404CV1524053single nucleotide variantNM_199355.4(ADAMTS18):c.1218G>T (p.Gly406=)not provided [RCV002133549]likely benign167735942277359422Humanname
152141871CV1526573single nucleotide variantNM_199355.4(ADAMTS18):c.1650C>T (p.Gly550=)not provided [RCV002084261]likely benign167734176477341764Humanname
152037932CV1530339single nucleotide variantNM_199355.4(ADAMTS18):c.1476G>T (p.Gly492=)not provided [RCV002087521]likely benign167735387177353871Humanname
152097402CV1531495single nucleotide variantNM_199355.4(ADAMTS18):c.2856G>A (p.Gln952=)not provided [RCV002213550]likely benign167729507377295073Humanname
152090944CV1532012single nucleotide variantNM_199355.4(ADAMTS18):c.2730C>G (p.Ser910=)not provided [RCV002077704]likely benign167729736077297360Humanname
152170705CV1536436single nucleotide variantNM_199355.4(ADAMTS18):c.1050A>G (p.Gln350=)not provided [RCV002183247]likely benign167736380877363808Humanname
152026321CV1540801single nucleotide variantNM_199355.4(ADAMTS18):c.1033C>T (p.Leu345=)not provided [RCV002104516]likely benign167736382577363825Humanname
152176332CV1541557single nucleotide variantNM_199355.4(ADAMTS18):c.1203A>G (p.Pro401=)not provided [RCV002164477]likely benign167736211877362118Humanname
152098829CV1542484single nucleotide variantNM_199355.4(ADAMTS18):c.2946G>A (p.Gln982=)not provided [RCV002195273]likely benign167729498377294983Humanname
152101214CV1546935single nucleotide variantNM_199355.4(ADAMTS18):c.1206T>C (p.Cys402=)not provided [RCV002151836]likely benign167736211577362115Humanname
152108646CV1550828single nucleotide variantNM_199355.4(ADAMTS18):c.1809G>T (p.Arg603=)not provided [RCV002152748]likely benign167733580677335806Humanname
152111485CV1551466single nucleotide variantNM_199355.4(ADAMTS18):c.1866G>A (p.Gln622=)not provided [RCV002196834]likely benign167732603277326032Humanname
152124034CV1553804single nucleotide variantNM_199355.4(ADAMTS18):c.1782C>T (p.Ala594=)not provided [RCV002098558]likely benign167733583377335833Humanname
152082302CV1558749single nucleotide variantNM_199355.4(ADAMTS18):c.1308T>C (p.His436=)not provided [RCV002149472]likely benign167735933277359332Humanname
152069704CV1567026single nucleotide variantNM_199355.4(ADAMTS18):c.2205A>C (p.Ser735=)not provided [RCV002111281]likely benign167732116177321161Humanname
152153650CV1577987single nucleotide variantNM_199355.4(ADAMTS18):c.1875C>A (p.Gly625=)not provided [RCV002122104]likely benign167732602377326023Humanname
152102222CV1579004single nucleotide variantNM_199355.4(ADAMTS18):c.2154G>A (p.Gly718=)not provided [RCV002079142]likely benign167732234577322345Humanname
152154111CV1579420single nucleotide variantNM_199355.4(ADAMTS18):c.1497G>A (p.Lys499=)not provided [RCV002158616]likely benign167735385077353850Humanname
152175922CV1580185single nucleotide variantNM_199355.4(ADAMTS18):c.2565T>A (p.Ala855=)not provided [RCV002164060]likely benign167730037277300372Humanname
152136660CV1580294single nucleotide variantNM_199355.4(ADAMTS18):c.2919T>G (p.Ser973=)ADAMTS18-related disorder [RCV003916343]|not provided [RCV002156226]likely benign167729501077295010Human1name , alternate_id
152065304CV1583399single nucleotide variantNM_199355.4(ADAMTS18):c.2658C>T (p.Ser886=)not provided [RCV002110701]likely benign167730027977300279Humanname
152170498CV1592457single nucleotide variantNM_199355.4(ADAMTS18):c.1587C>G (p.Ala529=)not provided [RCV002161794]likely benign167735376077353760Humanname
152171783CV1597792single nucleotide variantNM_199355.4(ADAMTS18):c.1518T>C (p.Tyr506=)not provided [RCV002162233]likely benign167735382977353829Humanname
152172410CV1599117single nucleotide variantNM_199355.4(ADAMTS18):c.1302C>T (p.Ile434=)not provided [RCV002143770]likely benign167735933877359338Humanname
152034958CV1604032single nucleotide variantNM_199355.4(ADAMTS18):c.1506A>C (p.Gly502=)not provided [RCV002087061]likely benign167735384177353841Humanname
152042721CV1619684single nucleotide variantNM_199355.4(ADAMTS18):c.1392A>G (p.Thr464=)not provided [RCV002188472]likely benign167735600877356008Humanname
152034206CV1634826single nucleotide variantNM_199355.4(ADAMTS18):c.1026G>A (p.Val342=)not provided [RCV002086931]likely benign167736383277363832Humanname
152149873CV1636016single nucleotide variantNM_199355.4(ADAMTS18):c.2061G>A (p.Lys687=)not provided [RCV002102068]likely benign167732243877322438Humanname
152027255CV1636140single nucleotide variantNM_199355.4(ADAMTS18):c.1317G>A (p.Gly439=)not provided [RCV002085073]likely benign167735932377359323Humanname
152113064CV1640753single nucleotide variantNM_199355.4(ADAMTS18):c.2847A>G (p.Gly949=)not provided [RCV002174576]likely benign167729508277295082Humanname
152159958CV1642314single nucleotide variantNM_199355.4(ADAMTS18):c.2496C>T (p.Tyr832=)not provided [RCV002103611]likely benign167731988577319885Humanname
152098165CV1650302single nucleotide variantNM_199355.4(ADAMTS18):c.1299C>T (p.Thr433=)not provided [RCV002114975]likely benign167735934177359341Humanname
152148633CV1650826single nucleotide variantNM_199355.4(ADAMTS18):c.2628T>C (p.Tyr876=)not provided [RCV002157825]likely benign167730030977300309Humanname
152142671CV1651362single nucleotide variantNM_199355.4(ADAMTS18):c.1521G>A (p.Pro507=)not provided [RCV002138372]benign167735382677353826Humanname
152160369CV1652045single nucleotide variantNM_199355.4(ADAMTS18):c.2889C>T (p.Pro963=)ADAMTS18-related disorder [RCV003911243]|not provided [RCV002180827]likely benign167729504077295040Human1name , alternate_id
152074239CV1652654single nucleotide variantNM_199355.4(ADAMTS18):c.2859C>T (p.Ser953=)not provided [RCV002148488]likely benign167729507077295070Humanname
152064474CV1654264single nucleotide variantNM_199355.4(ADAMTS18):c.2244C>T (p.Cys748=)not provided [RCV002190958]likely benign167732112277321122Humanname
152048365CV1656868single nucleotide variantNM_199355.4(ADAMTS18):c.2523G>T (p.Leu841=)not provided [RCV002189091]likely benign167731985877319858Humanname
152172433CV1660281single nucleotide variantNM_199355.4(ADAMTS18):c.1758G>A (p.Arg586=)not provided [RCV002162454]likely benign167733585777335857Humanname
152174743CV1663420single nucleotide variantNM_199355.4(ADAMTS18):c.1083A>G (p.Ala361=)not provided [RCV002144538]likely benign167736223877362238Humanname
152152652CV1664528single nucleotide variantNM_199355.4(ADAMTS18):c.2451C>T (p.Thr817=)not provided [RCV002158421]likely benign167731993077319930Humanname
152109805CV1665124single nucleotide variantNM_199355.4(ADAMTS18):c.2484G>C (p.Pro828=)not provided [RCV002080092]likely benign167731989777319897Humanname
152034549CV1666095single nucleotide variantNM_199355.4(ADAMTS18):c.1395G>T (p.Leu465=)not provided [RCV002106766]likely benign167735600577356005Humanname
156373057CV1923791single nucleotide variantNM_199355.4(ADAMTS18):c.1065A>G (p.Leu355=)not provided [RCV002633577]likely benign167736225677362256Humanname
156300263CV1955525single nucleotide variantNM_199355.4(ADAMTS18):c.125T>G (p.Val42Gly)not provided [RCV002578197]uncertain significance167743447177434471Humanname
156226221CV1956701single nucleotide variantNM_199355.4(ADAMTS18):c.1071C>A (p.Ile357=)not provided [RCV002575711]likely benign167736225077362250Humanname
156225540CV1962502single nucleotide variantNM_199355.4(ADAMTS18):c.1731C>T (p.Cys577=)not provided [RCV002596615]likely benign167733588477335884Humanname
156406223CV1963525single nucleotide variantNM_199355.4(ADAMTS18):c.2595T>C (p.Asn865=)not provided [RCV002585832]likely benign167730034277300342Humanname
156269353CV1970879single nucleotide variantNM_199355.4(ADAMTS18):c.1788G>A (p.Ser596=)not provided [RCV002598039]likely benign167733582777335827Humanname
156197197CV1971199single nucleotide variantNM_199355.4(ADAMTS18):c.1560G>A (p.Gln520=)not provided [RCV002625606]likely benign167735378777353787Humanname
156057021CV1974616single nucleotide variantNM_199355.4(ADAMTS18):c.2346G>A (p.Leu782=)not provided [RCV002590847]likely benign167732003577320035Humanname
156077383CV1979353single nucleotide variantNM_199355.4(ADAMTS18):c.1779C>T (p.Ser593=)not provided [RCV002621431]likely benign167733583677335836Humanname
156217721CV1980412single nucleotide variantNM_199355.4(ADAMTS18):c.1293C>T (p.Ala431=)not provided [RCV002626329]likely benign167735934777359347Humanname
156327150CV1980705single nucleotide variantNM_199355.4(ADAMTS18):c.1554C>T (p.Asp518=)not provided [RCV002630717]likely benign167735379377353793Humanname
156212285CV1983470single nucleotide variantNM_199355.4(ADAMTS18):c.2784T>C (p.Ala928=)not provided [RCV002626122]likely benign167729730677297306Humanname
156013994CV1986179single nucleotide variantNM_199355.4(ADAMTS18):c.262C>T (p.Arg88Ter)not provided [RCV002636370]pathogenic167743152877431528Humanname
156248627CV1989000single nucleotide variantNM_199355.4(ADAMTS18):c.2124C>T (p.Ser708=)not provided [RCV002627376]likely benign167732237577322375Humanname
156030605CV2001154single nucleotide variantNM_199355.4(ADAMTS18):c.2151C>T (p.Asp717=)not provided [RCV002658643]likely benign167732234877322348Humanname
156119097CV2004055single nucleotide variantNM_199355.4(ADAMTS18):c.1359C>T (p.Cys453=)not provided [RCV002662783]likely benign167735604177356041Humanname
156203511CV2011062single nucleotide variantNM_199355.4(ADAMTS18):c.1461C>T (p.Ser487=)Inborn genetic diseases [RCV004066914]|not provided [RCV002700361]likely benign|uncertain significance167735388677353886Human1name
156020920CV2019349single nucleotide variantNM_199355.4(ADAMTS18):c.277G>A (p.Ala93Thr)not provided [RCV002690995]uncertain significance167743151377431513Humanname
156164806CV2019653single nucleotide variantNM_199355.4(ADAMTS18):c.2331C>T (p.Ile777=)not provided [RCV002710304]likely benign167732005077320050Humanname
156178365CV2020371single nucleotide variantNM_199355.4(ADAMTS18):c.2928A>T (p.Pro976=)not provided [RCV002710700]likely benign167729500177295001Humanname
156027872CV2039698single nucleotide variantNM_199355.4(ADAMTS18):c.2535T>C (p.Ile845=)not provided [RCV002780983]likely benign167730040277300402Humanname
156006800CV2054362single nucleotide variantNM_199355.4(ADAMTS18):c.184G>C (p.Val62Leu)not provided [RCV002819917]uncertain significance167743160677431606Humanname
156315873CV2086093single nucleotide variantNM_199355.4(ADAMTS18):c.1245T>C (p.Ser415=)not provided [RCV002898988]likely benign167735939577359395Humanname
156099985CV2087949single nucleotide variantNM_199355.4(ADAMTS18):c.1962G>A (p.Gln654=)not provided [RCV002848046]likely benign167732593677325936Humanname
156313508CV2089397single nucleotide variantNM_199355.4(ADAMTS18):c.2724C>G (p.Val908=)not provided [RCV002898854]likely benign167729736677297366Humanname
156198724CV2113815single nucleotide variantNM_199355.4(ADAMTS18):c.2520G>T (p.Thr840=)not provided [RCV002957300]likely benign167731986177319861Humanname
155934529CV2114024single nucleotide variantNM_199355.4(ADAMTS18):c.1281A>T (p.Gly427=)not provided [RCV002904033]likely benign167735935977359359Humanname
155929195CV2145354single nucleotide variantNM_199355.4(ADAMTS18):c.263G>T (p.Arg88Leu)not provided [RCV003013549]uncertain significance167743152777431527Humanname
156189482CV2148643single nucleotide variantNM_199355.4(ADAMTS18):c.1041T>A (p.Leu347=)not provided [RCV003005955]likely benign167736381777363817Humanname
156313610CV2161945single nucleotide variantNM_199355.4(ADAMTS18):c.253A>G (p.Arg85Gly)not provided [RCV003028726]uncertain significance167743153777431537Humanname
156112879CV2171804single nucleotide variantNM_199355.4(ADAMTS18):c.205G>A (p.Val69Ile)not provided [RCV003039017]uncertain significance167743158577431585Humanname
156331742CV2171859single nucleotide variantNM_199355.4(ADAMTS18):c.2271C>T (p.Asn757=)not provided [RCV003029808]uncertain significance167732109577321095Humanname
156244941CV2187337single nucleotide variantNM_199355.4(ADAMTS18):c.2493G>T (p.Leu831=)not provided [RCV003059796]likely benign167731988877319888Humanname
401885747CV2775074single nucleotide variantNM_199355.4(ADAMTS18):c.160G>A (p.Ala54Thr)Inborn genetic diseases [RCV003366646]uncertain significance167743443677434436Human1name
402469593CV2931073single nucleotide variantNM_199355.4(ADAMTS18):c.1188T>A (p.Ser396=)not provided [RCV003570165]likely benign167736213377362133Humanname
405128570CV2957291single nucleotide variantNM_199355.4(ADAMTS18):c.2937A>T (p.Thr979=)not provided [RCV003672199]likely benign167729499277294992Humanname
405135233CV2958019single nucleotide variantNM_199355.4(ADAMTS18):c.1749C>T (p.Leu583=)not provided [RCV003672758]likely benign167733586677335866Humanname
405142162CV2958771single nucleotide variantNM_199355.4(ADAMTS18):c.1125C>T (p.Leu375=)not provided [RCV003673327]likely benign167736219677362196Humanname
405117226CV2961699single nucleotide variantNM_199355.4(ADAMTS18):c.1428C>T (p.Ser476=)not provided [RCV003671034]likely benign167735597277355972Humanname
405246322CV2965625single nucleotide variantNM_199355.4(ADAMTS18):c.1509G>A (p.Gln503=)not provided [RCV003685307]likely benign167735383877353838Humanname
405210220CV2970523single nucleotide variantNM_199355.4(ADAMTS18):c.2694C>G (p.Ala898=)not provided [RCV003679276]likely benign167729739677297396Humanname
405192915CV2985681single nucleotide variantNM_199355.4(ADAMTS18):c.1440G>A (p.Gln480=)not provided [RCV003706634]likely benign167735596077355960Humanname
402484042CV2998202single nucleotide variantNM_199355.4(ADAMTS18):c.2430G>A (p.Gly810=)not provided [RCV003686889]likely benign167731995177319951Humanname
405130218CV3010961single nucleotide variantNM_199355.4(ADAMTS18):c.1158C>T (p.Ala386=)not provided [RCV003701631]likely benign167736216377362163Humanname
405037022CV3016878deletionNM_199355.4(ADAMTS18):c.749del (p.Lys250fs)not provided [RCV003696023]pathogenic167736747077367470Humanname
405201170CV3041351single nucleotide variantNM_199355.4(ADAMTS18):c.2175T>C (p.Cys725=)not provided [RCV003707456]likely benign167732119177321191Humanname
405221915CV3056852single nucleotide variantNM_199355.4(ADAMTS18):c.2745A>C (p.Ala915=)not provided [RCV003733438]likely benign167729734577297345Humanname
405142100CV3125955single nucleotide variantNM_199355.4(ADAMTS18):c.2418C>T (p.Ile806=)ADAMTS18-related disorder [RCV003956581]|not provided [RCV003816871]likely benign167731996377319963Human1name , alternate_id
405138715CV3130739single nucleotide variantNM_199355.4(ADAMTS18):c.1110A>G (p.Gln370=)not provided [RCV003838973]likely benign167736221177362211Humanname
405141461CV3131246single nucleotide variantNM_199355.4(ADAMTS18):c.2955C>T (p.Ala985=)not provided [RCV003839286]likely benign167729497477294974Humanname
405216067CV3143345single nucleotide variantNM_199355.4(ADAMTS18):c.1473G>T (p.Ala491=)not provided [RCV003846509]likely benign167735387477353874Humanname
405187591CV3156534single nucleotide variantNM_199355.4(ADAMTS18):c.2640C>T (p.Ile880=)not provided [RCV003859412]likely benign167730029777300297Humanname
405133461CV3163896single nucleotide variantNM_199355.4(ADAMTS18):c.2520G>A (p.Thr840=)not provided [RCV003854884]likely benign167731986177319861Humanname
405269077CV3187206single nucleotide variantNM_199355.4(ADAMTS18):c.1446C>T (p.Leu482=)not provided [RCV003887290]likely benign167735595477355954Humanname
405684301CV3235517single nucleotide variantNM_199355.4(ADAMTS18):c.238A>G (p.Ile80Val)Inborn genetic diseases [RCV004372031]uncertain significance167743155277431552Human1name
597655411CV3645252single nucleotide variantNM_199355.4(ADAMTS18):c.131C>A (p.Ala44Glu)Inborn genetic diseases [RCV004976373]uncertain significance167743446577434465Human1name
597655393CV3649082single nucleotide variantNM_199355.4(ADAMTS18):c.116G>A (p.Cys39Tyr)Inborn genetic diseases [RCV004976369]uncertain significance167743448077434480Human1name
597858252CV3748247single nucleotide variantNM_199355.4(ADAMTS18):c.2502A>G (p.Pro834=)not provided [RCV005067069]likely benign167731987977319879Humanname
597948413CV3759159single nucleotide variantNM_199355.4(ADAMTS18):c.2499G>A (p.Ala833=)not provided [RCV005078956]likely benign167731988277319882Humanname
597856767CV3769399single nucleotide variantNM_199355.4(ADAMTS18):c.2982A>G (p.Gln994=)not provided [RCV005105440]likely benign167729494777294947Humanname
597924826CV3778076deletionNM_199355.4(ADAMTS18):c.550del (p.Leu184fs)not provided [RCV005130800]pathogenic167736766977367669Humanname
597921002CV3781340single nucleotide variantNM_199355.4(ADAMTS18):c.2826A>C (p.Thr942=)not provided [RCV005130222]likely benign167729510377295103Humanname
597935063CV3807204single nucleotide variantNM_199355.4(ADAMTS18):c.2442C>T (p.Phe814=)not provided [RCV005157775]likely benign167731993977319939Humanname
597892602CV3809812single nucleotide variantNM_199355.4(ADAMTS18):c.2886G>A (p.Lys962=)not provided [RCV005151533]likely benign167729504377295043Humanname
597918925CV3811601single nucleotide variantNM_199355.4(ADAMTS18):c.2499G>T (p.Ala833=)not provided [RCV005155432]likely benign167731988277319882Humanname
597950246CV3818947single nucleotide variantNM_199355.4(ADAMTS18):c.2403C>G (p.Thr801=)not provided [RCV005161017]likely benign167731997877319978Humanname
597878583CV3825948single nucleotide variantNM_199355.4(ADAMTS18):c.2916T>C (p.His972=)not provided [RCV005177822]likely benign167729501377295013Humanname
597909073CV3829841single nucleotide variantNM_199355.4(ADAMTS18):c.2757A>G (p.Pro919=)not provided [RCV005182410]likely benign167729733377297333Humanname
597897758CV3854425single nucleotide variantNM_199355.4(ADAMTS18):c.1404C>T (p.Asn468=)not provided [RCV005201532]likely benign167735599677355996Humanname
597860827CV3860105single nucleotide variantNM_199355.4(ADAMTS18):c.2865G>A (p.Lys955=)not provided [RCV005195834]likely benign167729506477295064Humanname
597878632CV3860437single nucleotide variantNM_199355.4(ADAMTS18):c.2262G>T (p.Leu754=)not provided [RCV005198646]likely benign167732110477321104Humanname
15102456CV703829single nucleotide variantNM_199355.4(ADAMTS18):c.2349G>A (p.Gln783=)not provided [RCV000959293]|not specified [RCV001699480]benign167732003277320032Humanname
15102462CV703830single nucleotide variantNM_199355.4(ADAMTS18):c.2190C>T (p.Gly730=)not provided [RCV000959294]|not specified [RCV001701262]benign167732117677321176Humanname
15111905CV715085single nucleotide variantNM_199355.4(ADAMTS18):c.1632T>G (p.Leu544=)not provided [RCV000961196]benign167734178277341782Humanname
15177537CV740355single nucleotide variantNM_199355.4(ADAMTS18):c.2508C>T (p.Pro836=)not provided [RCV000906674]|not specified [RCV001796312]benign|likely benign167731987377319873Humanname
15117107CV740357single nucleotide variantNM_199355.4(ADAMTS18):c.2439C>G (p.Pro813=)not provided [RCV000895320]likely benign167731994277319942Humanname
15161599CV740358single nucleotide variantNM_199355.4(ADAMTS18):c.2340G>A (p.Gln780=)not provided [RCV000903379]likely benign167732004177320041Humanname
15122110CV740360single nucleotide variantNM_199355.4(ADAMTS18):c.1398C>T (p.Thr466=)not provided [RCV000896185]likely benign167735600277356002Humanname
15109580CV755395single nucleotide variantNM_199355.4(ADAMTS18):c.2484G>A (p.Pro828=)not provided [RCV000916366]benign167731989777319897Humanname
15195954CV755396single nucleotide variantNM_199355.4(ADAMTS18):c.1677C>T (p.Pro559=)not provided [RCV000911560]likely benign167734173777341737Humanname
15115212CV785383single nucleotide variantNM_199355.4(ADAMTS18):c.2826A>G (p.Thr942=)ADAMTS18-related disorder [RCV003906101]|not provided [RCV000978361]likely benign167729510377295103Human1name , alternate_id
15104378CV785384single nucleotide variantNM_199355.4(ADAMTS18):c.2739C>T (p.Cys913=)not provided [RCV000976209]likely benign167729735177297351Humanname
15131430CV785385single nucleotide variantNM_199355.4(ADAMTS18):c.2367C>G (p.Leu789=)not provided [RCV000981212]likely benign167732001477320014Humanname
15109779CV785386single nucleotide variantNM_199355.4(ADAMTS18):c.2358C>T (p.Ser786=)not provided [RCV000977306]likely benign167732002377320023Humanname
26919564CV844329single nucleotide variantNM_199355.4(ADAMTS18):c.157G>T (p.Gly53Cys)not provided [RCV001045844]uncertain significance167743443977434439Humanname
26901088CV844330single nucleotide variantNM_199355.4(ADAMTS18):c.133G>A (p.Ala45Thr)not provided [RCV001068274]uncertain significance167743446377434463Humanname
8635913CV91136single nucleotide variantNM_199355.4(ADAMTS18):c.2997C>T (p.Pro999=)not provided [RCV003039575]likely benign|not provided167729493277294932Humanname
8635914CV91137single nucleotide variantNM_199355.2(ADAMTS18):c.2838C>T (p.Ala946=)Malignant melanoma [RCV000071235]not provided167729509177295091Humanname
8635917CV91140single nucleotide variantNM_199355.4(ADAMTS18):c.2403C>T (p.Thr801=)not provided [RCV001470848]likely benign|not provided167731997877319978Humanname
8635918CV91141single nucleotide variantNM_199355.4(ADAMTS18):c.2355C>T (p.Ser785=)not provided [RCV001470371]likely benign|not provided167732002677320026Humanname
38487181CV937619single nucleotide variantNM_199355.4(ADAMTS18):c.269C>T (p.Ala90Val)not provided [RCV001209206]uncertain significance167743152177431521Humanname
38485493CV949574single nucleotide variantNM_199355.4(ADAMTS18):c.242T>G (p.Leu81Trp)not provided [RCV001236778]uncertain significance167743154877431548Humanname
38499384CV957880single nucleotide variantNM_199355.4(ADAMTS18):c.251G>T (p.Gly84Val)Inborn genetic diseases [RCV004609707]|not provided [RCV001244585]uncertain significance167743153977431539Human1name
126750235CV997162single nucleotide variantNM_199355.4(ADAMTS18):c.263G>A (p.Arg88Gln)not provided [RCV001297286]uncertain significance167743152777431527Humanname
126754483CV997163single nucleotide variantNM_199355.4(ADAMTS18):c.178G>A (p.Asp60Asn)not provided [RCV001298140]uncertain significance167743441877434418Humanname
126759528CV997164single nucleotide variantNM_199355.4(ADAMTS18):c.161C>T (p.Ala54Val)Inborn genetic diseases [RCV004609747]|not provided [RCV001309042]uncertain significance167743443577434435Human1name
126748644CV1012413single nucleotide variantNM_199355.4(ADAMTS18):c.964A>G (p.Met322Val)not provided [RCV001315573]uncertain significance167736419677364196Humanname
126736758CV1012414single nucleotide variantNM_199355.4(ADAMTS18):c.767G>A (p.Arg256Gln)not provided [RCV001324709]uncertain significance167736745277367452Humanname
126736119CV1012415single nucleotide variantNM_199355.4(ADAMTS18):c.692A>C (p.His231Pro)not provided [RCV001324617]uncertain significance167736752777367527Humanname
126758750CV1012416single nucleotide variantNM_199355.4(ADAMTS18):c.584C>T (p.Ala195Val)not provided [RCV001317866]uncertain significance167736763577367635Humanname
126772443CV1012417single nucleotide variantNM_199355.4(ADAMTS18):c.569A>G (p.Asn190Ser)not provided [RCV001323757]uncertain significance167736765077367650Humanname
126744209CV1012418single nucleotide variantNM_199355.4(ADAMTS18):c.518A>G (p.Lys173Arg)not provided [RCV001325732]uncertain significance167736770177367701Humanname
126747984CV1032895single nucleotide variantNM_199355.4(ADAMTS18):c.739A>G (p.Arg247Gly)Inborn genetic diseases [RCV002547537]|not provided [RCV001351773]uncertain significance167736748077367480Human1name
126748764CV1032896single nucleotide variantNM_199355.4(ADAMTS18):c.482C>T (p.Thr161Met)not provided [RCV001337717]uncertain significance167743130877431308Humanname
126921528CV1049878single nucleotide variantNM_199355.4(ADAMTS18):c.895G>A (p.Val299Met)not provided [RCV001363598]uncertain significance167736426577364265Humanname
126908400CV1049879single nucleotide variantNM_199355.4(ADAMTS18):c.881A>G (p.Asn294Ser)not provided [RCV001367817]uncertain significance167736427977364279Humanname
126924574CV1049880single nucleotide variantNM_199355.4(ADAMTS18):c.770G>C (p.Arg257Pro)not provided [RCV001367188]uncertain significance167736744977367449Humanname
126919615CV1049881single nucleotide variantNM_199355.4(ADAMTS18):c.701A>G (p.His234Arg)not provided [RCV001373335]uncertain significance167736751877367518Humanname
126923187CV1049882single nucleotide variantNM_199355.4(ADAMTS18):c.455A>G (p.Asp152Gly)not provided [RCV001365554]uncertain significance167743133577431335Humanname
126924011CV1049883single nucleotide variantNM_199355.4(ADAMTS18):c.418G>A (p.Val140Met)not provided [RCV001366522]uncertain significance167743137277431372Humanname
127260511CV1063747deletionNM_199355.4(ADAMTS18):c.2813del (p.Gly938fs)not provided [RCV001380345]pathogenic167729511677295116Humanname
127266683CV1063750single nucleotide variantNM_199355.4(ADAMTS18):c.736C>T (p.Arg246Ter)not provided [RCV001381756]pathogenic167736748377367483Humanname
127230731CV1082418single nucleotide variantNM_199355.4(ADAMTS18):c.3564C>T (p.Cys1188=)not provided [RCV001412661]likely benign167728405877284058Humanname
127237872CV1082420single nucleotide variantNM_199355.4(ADAMTS18):c.3240C>T (p.Ser1080=)not provided [RCV001397226]likely benign167729142877291428Humanname
127274006CV1082421single nucleotide variantNM_199355.4(ADAMTS18):c.3048C>T (p.Leu1016=)not provided [RCV001406216]likely benign167729321777293217Humanname
127242407CV1082422single nucleotide variantNM_199355.4(ADAMTS18):c.3030G>T (p.Gly1010=)not provided [RCV001398181]likely benign167729323577293235Humanname
127274974CV1104219single nucleotide variantNM_199355.4(ADAMTS18):c.3387A>G (p.Ser1129=)not provided [RCV001432137]likely benign167729128177291281Humanname
127279977CV1104220single nucleotide variantNM_199355.4(ADAMTS18):c.3321A>G (p.Glu1107=)not provided [RCV001446134]likely benign167729134777291347Humanname
127233691CV1104222single nucleotide variantNM_199355.4(ADAMTS18):c.3162A>G (p.Leu1054=)not provided [RCV001421840]likely benign167729310377293103Humanname
127243403CV1104223single nucleotide variantNM_199355.4(ADAMTS18):c.3156C>T (p.Ser1052=)not provided [RCV001434814]likely benign167729310977293109Humanname
127283242CV1104242single nucleotide variantNM_199355.4(ADAMTS18):c.691C>T (p.His231Tyr)not provided [RCV001448396]likely benign167736752877367528Humanname
127267237CV1104243single nucleotide variantNM_199355.4(ADAMTS18):c.653C>G (p.Pro218Arg)Inborn genetic diseases [RCV002555156]|not provided [RCV001429617]likely benign|uncertain significance167736756677367566Human1name
127337522CV1125623single nucleotide variantNM_199355.4(ADAMTS18):c.3657G>A (p.Arg1219=)not provided [RCV001475719]likely benign167728396577283965Humanname
127304224CV1125624single nucleotide variantNM_199355.4(ADAMTS18):c.3648A>G (p.Ser1216=)not provided [RCV001454921]likely benign167728397477283974Humanname
127293545CV1125626single nucleotide variantNM_199355.4(ADAMTS18):c.3273C>T (p.Phe1091=)not provided [RCV001476616]likely benign167729139577291395Humanname
127335078CV1125627single nucleotide variantNM_199355.4(ADAMTS18):c.3225G>A (p.Arg1075=)not provided [RCV001474003]likely benign167729144377291443Humanname
127304905CV1125628single nucleotide variantNM_199355.4(ADAMTS18):c.3198A>G (p.Ala1066=)not provided [RCV001462369]likely benign167729147077291470Humanname
127332671CV1125629single nucleotide variantNM_199355.4(ADAMTS18):c.3186C>T (p.Ser1062=)not provided [RCV001472383]likely benign167729307977293079Humanname
127306121CV1125630single nucleotide variantNM_199355.4(ADAMTS18):c.3174T>C (p.Ala1058=)not provided [RCV001462696]likely benign167729309177293091Humanname
127302177CV1125631single nucleotide variantNM_199355.4(ADAMTS18):c.3069A>G (p.Ala1023=)not provided [RCV001461560]likely benign167729319677293196Humanname
127317023CV1146520single nucleotide variantNM_199355.4(ADAMTS18):c.3408A>C (p.Thr1136=)not provided [RCV001483044]likely benign167728940677289406Humanname
127294586CV1146523single nucleotide variantNM_199355.4(ADAMTS18):c.3180G>T (p.Ser1060=)not provided [RCV001497017]likely benign167729308577293085Humanname
127299201CV1146525single nucleotide variantNM_199355.4(ADAMTS18):c.3066C>T (p.Ala1022=)not provided [RCV001498247]likely benign167729319977293199Humanname
127286515CV1146544single nucleotide variantNM_199355.4(ADAMTS18):c.340C>A (p.Pro114Thr)ADAMTS18-related disorder [RCV003948445]|not provided [RCV001494318]likely benign167743145077431450Human1name , alternate_id
127317811CV1157844single nucleotide variantNM_199355.4(ADAMTS18):c.3144C>T (p.Cys1048=)not provided [RCV001521323]benign167729312177293121Humanname
127319424CV1157867single nucleotide variantNM_199355.4(ADAMTS18):c.517A>G (p.Lys173Glu)not provided [RCV001522127]benign167736770277367702Humanname
150554823CV1304563single nucleotide variantNM_199355.4(ADAMTS18):c.862A>C (p.Lys288Gln)not provided [RCV001771533]uncertain significance167736429877364298Humanname
151809141CV1337325single nucleotide variantNM_199355.4(ADAMTS18):c.683C>A (p.Ser228Tyr)Inborn genetic diseases [RCV002657718]|not provided [RCV002028799]uncertain significance167736753677367536Human1name
151780347CV1341747single nucleotide variantNM_199355.4(ADAMTS18):c.655G>A (p.Gly219Ser)Inborn genetic diseases [RCV004611945]|not provided [RCV001897179]likely benign|uncertain significance167736756477367564Human1name
151890872CV1346802single nucleotide variantNM_199355.4(ADAMTS18):c.781G>A (p.Ala261Thr)not provided [RCV002038930]uncertain significance167736437977364379Humanname
151732150CV1351130single nucleotide variantNM_199355.4(ADAMTS18):c.892C>G (p.Leu298Val)not provided [RCV002004893]uncertain significance167736426877364268Humanname
151812821CV1355522single nucleotide variantNM_199355.4(ADAMTS18):c.550C>A (p.Leu184Ile)not provided [RCV002012612]uncertain significance167736766977367669Humanname
151873682CV1356383single nucleotide variantNM_199355.4(ADAMTS18):c.549G>C (p.Gln183His)not provided [RCV001925538]uncertain significance167736767077367670Humanname
151780530CV1357596single nucleotide variantNM_199355.4(ADAMTS18):c.354G>C (p.Leu118Phe)not provided [RCV001875313]uncertain significance167743143677431436Humanname
151880397CV1360029single nucleotide variantNM_199355.4(ADAMTS18):c.643C>T (p.Arg215Cys)Inborn genetic diseases [RCV004044893]|not provided [RCV002036788]uncertain significance167736757677367576Human1name
151780662CV1363799single nucleotide variantNM_199355.4(ADAMTS18):c.883G>A (p.Val295Met)not provided [RCV001864934]uncertain significance167736427777364277Humanname
151802998CV1364643single nucleotide variantNM_199355.4(ADAMTS18):c.852A>T (p.Arg284Ser)not provided [RCV001991123]uncertain significance167736430877364308Humanname
151844232CV1375932single nucleotide variantNM_199355.4(ADAMTS18):c.803A>T (p.Asp268Val)not provided [RCV001995126]uncertain significance167736435777364357Humanname
151813951CV1382264single nucleotide variantNM_199355.4(ADAMTS18):c.653C>A (p.Pro218His)not provided [RCV001992098]uncertain significance167736756677367566Humanname
151765680CV1393758single nucleotide variantNM_199355.4(ADAMTS18):c.816G>C (p.Arg272Ser)not provided [RCV002008353]uncertain significance167736434477364344Humanname
151801148CV1414060single nucleotide variantNM_199355.4(ADAMTS18):c.472G>A (p.Ala158Thr)not provided [RCV002047989]uncertain significance167743131877431318Humanname
151822974CV1415189single nucleotide variantNM_199355.4(ADAMTS18):c.923A>C (p.Lys308Thr)Inborn genetic diseases [RCV003167264]|not provided [RCV001954948]uncertain significance167736423777364237Human1name
151842232CV1423918single nucleotide variantNM_199355.4(ADAMTS18):c.560A>T (p.Gln187Leu)not provided [RCV001977837]uncertain significance167736765977367659Humanname
151753168CV1426970single nucleotide variantNM_199355.4(ADAMTS18):c.349A>G (p.Ile117Val)not provided [RCV002007074]uncertain significance167743144177431441Humanname
151884263CV1432263single nucleotide variantNM_199355.4(ADAMTS18):c.946A>T (p.Thr316Ser)not provided [RCV002000235]uncertain significance167736421477364214Humanname
151863707CV1445599single nucleotide variantNM_199355.4(ADAMTS18):c.619G>A (p.Ala207Thr)not provided [RCV002018085]uncertain significance167736760077367600Humanname
151775317CV1450374single nucleotide variantNM_199355.4(ADAMTS18):c.406C>G (p.Gln136Glu)not provided [RCV001915378]uncertain significance167743138477431384Humanname
151745600CV1450484single nucleotide variantNM_199355.4(ADAMTS18):c.769C>T (p.Arg257Cys)Inborn genetic diseases [RCV002555600]|not provided [RCV001893736]uncertain significance167736745077367450Human1name
151847863CV1450705single nucleotide variantNM_199355.4(ADAMTS18):c.389A>T (p.Asp130Val)not provided [RCV001957578]uncertain significance167743140177431401Humanname
151739639CV1454909single nucleotide variantNM_199355.4(ADAMTS18):c.766C>T (p.Arg256Ter)not provided [RCV001946974]pathogenic167736745377367453Humanname
151865484CV1456011single nucleotide variantNM_199355.4(ADAMTS18):c.836C>G (p.Ser279Cys)not provided [RCV002035001]uncertain significance167736432477364324Humanname
151889359CV1468636single nucleotide variantNM_199355.4(ADAMTS18):c.794C>T (p.Pro265Leu)not provided [RCV002001275]uncertain significance167736436677364366Humanname
151717072CV1472915single nucleotide variantNM_199355.4(ADAMTS18):c.458G>T (p.Ser153Ile)not provided [RCV002039493]uncertain significance167743133277431332Humanname
151713835CV1476792single nucleotide variantNM_199355.4(ADAMTS18):c.700C>T (p.His234Tyr)Inborn genetic diseases [RCV005320938]|not provided [RCV001908558]uncertain significance167736751977367519Human1name
151747944CV1478730single nucleotide variantNM_199355.4(ADAMTS18):c.856G>T (p.Ala286Ser)Inborn genetic diseases [RCV004976162]|not provided [RCV002023053]uncertain significance167736430477364304Human1name
151792177CV1482459single nucleotide variantNM_199355.4(ADAMTS18):c.299G>A (p.Arg100Gln)not provided [RCV002047211]uncertain significance167743149177431491Humanname
151720957CV1491634single nucleotide variantNM_199355.4(ADAMTS18):c.407A>C (p.Gln136Pro)not provided [RCV002003659]uncertain significance167743138377431383Humanname
152046482CV1548304single nucleotide variantNM_199355.4(ADAMTS18):c.3465G>A (p.Arg1155=)not provided [RCV002071653]likely benign167728934977289349Humanname
152144571CV1582538single nucleotide variantNM_199355.4(ADAMTS18):c.3435C>G (p.Thr1145=)not provided [RCV002201039]likely benign167728937977289379Humanname
152170286CV1592351single nucleotide variantNM_199355.4(ADAMTS18):c.3171C>T (p.Val1057=)not provided [RCV002161719]likely benign167729309477293094Humanname
152054407CV1609992single nucleotide variantNM_199355.4(ADAMTS18):c.3081C>T (p.Pro1027=)not provided [RCV002167256]likely benign167729318477293184Humanname
152049077CV1615919single nucleotide variantNM_199355.4(ADAMTS18):c.3636A>G (p.Gln1212=)not provided [RCV002166635]likely benign167728398677283986Humanname
152050885CV1636930single nucleotide variantNM_199355.4(ADAMTS18):c.3195T>C (p.Ser1065=)not provided [RCV002189402]likely benign167729147377291473Humanname
152143878CV1651560single nucleotide variantNM_199355.4(ADAMTS18):c.3393G>A (p.Pro1131=)not provided [RCV002138521]likely benign167729127577291275Humanname
152091113CV1662125single nucleotide variantNM_199355.4(ADAMTS18):c.3436C>A (p.Arg1146=)not provided [RCV002132056]benign167728937877289378Humanname
156416468CV1905215single nucleotide variantNM_199355.4(ADAMTS18):c.644G>A (p.Arg215His)not provided [RCV002610192]uncertain significance167736757577367575Humanname
156364734CV1928615single nucleotide variantNM_199355.4(ADAMTS18):c.991G>C (p.Asp331His)not provided [RCV002632925]uncertain significance167736386777363867Humanname
156148580CV1970806single nucleotide variantNM_199355.4(ADAMTS18):c.3285A>G (p.Arg1095=)not provided [RCV002594071]likely benign167729138377291383Humanname
156411268CV1976190single nucleotide variantNM_199355.4(ADAMTS18):c.3042T>C (p.Arg1014=)not provided [RCV002587435]likely benign167729322377293223Humanname
155912324CV1980272single nucleotide variantNM_199355.4(ADAMTS18):c.334C>A (p.Leu112Ile)not provided [RCV002614083]uncertain significance167743145677431456Humanname
156087848CV1983863single nucleotide variantNM_199355.4(ADAMTS18):c.3441A>G (p.Ser1147=)not provided [RCV002621756]likely benign167728937377289373Humanname
156352578CV1994562single nucleotide variantNM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)ADAMTS18-related disorder [RCV003403881]|not provided [RCV002675698]likely pathogenic|uncertain significance167736750077367500Human1name , alternate_id
156115285CV1995411single nucleotide variantNM_199355.4(ADAMTS18):c.688A>G (p.Ser230Gly)not provided [RCV002640098]uncertain significance167736753177367531Humanname
156243934CV1996477single nucleotide variantNM_199355.4(ADAMTS18):c.3114G>A (p.Glu1038=)not provided [RCV002668021]likely benign167729315177293151Humanname
156237539CV1999654single nucleotide variantNM_199355.4(ADAMTS18):c.836C>T (p.Ser279Phe)not provided [RCV002667811]uncertain significance167736432477364324Humanname
156304859CV1999772single nucleotide variantNM_199355.4(ADAMTS18):c.3060C>G (p.Gly1020=)not provided [RCV002671332]benign167729320577293205Humanname
156030211CV2001101single nucleotide variantNM_199355.4(ADAMTS18):c.570C>G (p.Asn190Lys)Inborn genetic diseases [RCV003250556]|not provided [RCV002658628]uncertain significance167736764977367649Human1name
156397994CV2009242single nucleotide variantNM_199355.4(ADAMTS18):c.868C>A (p.Gln290Lys)not provided [RCV002725756]uncertain significance167736429277364292Humanname
155956614CV2010474single nucleotide variantNM_199355.4(ADAMTS18):c.689G>A (p.Ser230Asn)not provided [RCV002686298]uncertain significance167736753077367530Humanname
156393254CV2019070single nucleotide variantNM_199355.4(ADAMTS18):c.726G>C (p.Glu242Asp)not provided [RCV002725262]uncertain significance167736749377367493Humanname
156216929CV2028709single nucleotide variantNM_199355.4(ADAMTS18):c.821A>G (p.Asp274Gly)not provided [RCV002711989]uncertain significance167736433977364339Humanname
156371397CV2031146single nucleotide variantNM_199355.4(ADAMTS18):c.970A>G (p.Met324Val)not provided [RCV002721544]uncertain significance167736419077364190Humanname
156022712CV2040773single nucleotide variantNM_199355.4(ADAMTS18):c.578C>A (p.Ser193Tyr)not provided [RCV002795663]uncertain significance167736764177367641Humanname
155935247CV2063766single nucleotide variantNM_199355.4(ADAMTS18):c.3129T>C (p.Cys1043=)not provided [RCV002839030]likely benign167729313677293136Humanname
155942688CV2068366single nucleotide variantNM_199355.4(ADAMTS18):c.682T>G (p.Ser228Ala)not provided [RCV002839517]uncertain significance167736753777367537Humanname
155912222CV2069640single nucleotide variantNM_199355.4(ADAMTS18):c.3105C>G (p.Pro1035=)not provided [RCV002837801]likely benign167729316077293160Humanname
156152881CV2070506single nucleotide variantNM_199355.4(ADAMTS18):c.3429C>G (p.Val1143=)not provided [RCV002850929]likely benign167728938577289385Humanname
155909895CV2073117single nucleotide variantNM_199355.4(ADAMTS18):c.3597T>G (p.Pro1199=)not provided [RCV002837629]likely benign167728402577284025Humanname
156171005CV2075555single nucleotide variantNM_199355.4(ADAMTS18):c.3489T>C (p.His1163=)not provided [RCV002851529]likely benign167728932577289325Humanname
155906911CV2077387single nucleotide variantNM_199355.4(ADAMTS18):c.622G>T (p.Glu208Ter)not provided [RCV002858209]pathogenic167736759777367597Humanname
155955880CV2078243single nucleotide variantNM_199355.4(ADAMTS18):c.461C>G (p.Ser154Cys)not provided [RCV002880762]uncertain significance167743132977431329Humanname
155996130CV2095767single nucleotide variantNM_199355.4(ADAMTS18):c.596C>G (p.Pro199Arg)not provided [RCV002908393]uncertain significance167736762377367623Humanname
156005982CV2099739single nucleotide variantNM_199355.4(ADAMTS18):c.3393G>C (p.Pro1131=)not provided [RCV002908858]likely benign167729127577291275Humanname
156338895CV2106673single nucleotide variantNM_199355.4(ADAMTS18):c.3276A>G (p.Pro1092=)not provided [RCV002938787]likely benign167729139277291392Humanname
156331468CV2112701single nucleotide variantNM_199355.4(ADAMTS18):c.3123G>A (p.Glu1041=)not provided [RCV002938391]likely benign167729314277293142Humanname
155956153CV2120416single nucleotide variantNM_199355.4(ADAMTS18):c.710A>C (p.Gln237Pro)not provided [RCV002972135]uncertain significance167736750977367509Humanname
155953281CV2123655single nucleotide variantNM_199355.4(ADAMTS18):c.890C>T (p.Thr297Ile)not provided [RCV002971982]uncertain significance167736427077364270Humanname
156343664CV2124122single nucleotide variantNM_199355.4(ADAMTS18):c.688A>C (p.Ser230Arg)not provided [RCV002939042]uncertain significance167736753177367531Humanname
155937101CV2125783single nucleotide variantNM_199355.4(ADAMTS18):c.643C>A (p.Arg215Ser)not provided [RCV002971028]uncertain significance167736757677367576Humanname
156342229CV2127676single nucleotide variantNM_199355.4(ADAMTS18):c.341C>T (p.Pro114Leu)not provided [RCV002938959]uncertain significance167743144977431449Humanname
156041980CV2130722single nucleotide variantNM_199355.4(ADAMTS18):c.560A>G (p.Gln187Arg)Inborn genetic diseases [RCV004614286]|not provided [RCV002949656]uncertain significance167736765977367659Human1name
156227156CV2145962single nucleotide variantNM_199355.4(ADAMTS18):c.515G>T (p.Arg172Leu)not provided [RCV003025505]uncertain significance167736770477367704Humanname
155914007CV2149618single nucleotide variantNM_199355.4(ADAMTS18):c.934G>T (p.Gly312Ter)not provided [RCV003012465]pathogenic167736422677364226Humanname
156089498CV2155556single nucleotide variantNM_199355.4(ADAMTS18):c.528C>A (p.Phe176Leu)not provided [RCV003020631]uncertain significance167736769177367691Humanname
156358744CV2162272single nucleotide variantNM_199355.4(ADAMTS18):c.565C>T (p.His189Tyr)not provided [RCV003031414]uncertain significance167736765477367654Humanname
156287243CV2172341single nucleotide variantNM_199355.4(ADAMTS18):c.895G>C (p.Val299Leu)not provided [RCV003027535]uncertain significance167736426577364265Humanname
156260141CV2181665single nucleotide variantNM_199355.4(ADAMTS18):c.686C>A (p.Pro229Gln)not provided [RCV003044088]uncertain significance167736753377367533Humanname
156374060CV2190785deletionNM_199355.4(ADAMTS18):c.2435del (p.Phe812fs)not provided [RCV003049948]pathogenic167731994677319946Humanname
156290376CV2192324single nucleotide variantNM_199355.4(ADAMTS18):c.608A>G (p.Tyr203Cys)not provided [RCV003045118]uncertain significance167736761177367611Humanname
156388751CV2231976single nucleotide variantNM_199355.4(ADAMTS18):c.834C>A (p.Ser278Arg)Inborn genetic diseases [RCV002724197]uncertain significance167736432677364326Human1name
156102406CV2260415single nucleotide variantNM_199355.4(ADAMTS18):c.410A>G (p.Lys137Arg)Inborn genetic diseases [RCV002799209]|not provided [RCV005059288]uncertain significance167743138077431380Human1name
401753857CV2685082single nucleotide variantNM_199355.4(ADAMTS18):c.326A>G (p.His109Arg)Inborn genetic diseases [RCV003254807]uncertain significance167743146477431464Human1name
401934534CV2817827single nucleotide variantNM_199355.4(ADAMTS18):c.3015G>A (p.Lys1005=)not provided [RCV003411428]uncertain significance167729325077293250Humanname
401917009CV2829613single nucleotide variantNM_199355.4(ADAMTS18):c.770G>A (p.Arg257His)not provided [RCV003443657]uncertain significance167736744977367449Humanname
405233067CV2965251single nucleotide variantNM_199355.4(ADAMTS18):c.3450T>C (p.Cys1150=)not provided [RCV003682499]likely benign167728936477289364Humanname
405128607CV3133199single nucleotide variantNM_199355.4(ADAMTS18):c.3663C>T (p.Ile1221=)not provided [RCV003838169]likely benign167728395977283959Humanname
405129229CV3133260single nucleotide variantNM_199355.4(ADAMTS18):c.3570T>C (p.Asp1190=)not provided [RCV003838230]likely benign167728405277284052Humanname
405223460CV3151159single nucleotide variantNM_199355.4(ADAMTS18):c.3630A>C (p.Gly1210=)not provided [RCV003847584]likely benign167728399277283992Humanname
405234776CV3155587single nucleotide variantNM_199355.4(ADAMTS18):c.3609C>G (p.Val1203=)not provided [RCV003853565]likely benign167728401377284013Humanname
405190778CV3157028single nucleotide variantNM_199355.4(ADAMTS18):c.950A>G (p.Tyr317Cys)not provided [RCV003859716]uncertain significance167736421077364210Humanname
405228438CV3180371single nucleotide variantNM_199355.4(ADAMTS18):c.3612C>T (p.Cys1204=)not provided [RCV003864791]likely benign167728401077284010Humanname
405684864CV3235603single nucleotide variantNM_199355.4(ADAMTS18):c.317A>G (p.Gln106Arg)Inborn genetic diseases [RCV004372117]uncertain significance167743147377431473Human1name
405685122CV3235652single nucleotide variantNM_199355.4(ADAMTS18):c.590A>T (p.His197Leu)Inborn genetic diseases [RCV004372166]uncertain significance167736762977367629Human1name
596942034CV3408369single nucleotide variantNM_199355.4(ADAMTS18):c.363C>A (p.His121Gln)Retinal dystrophy [RCV004816040]uncertain significance167743142777431427Human2name
407455406CV3422675single nucleotide variantNM_199355.4(ADAMTS18):c.322C>G (p.Leu108Val)Inborn genetic diseases [RCV004610303]uncertain significance167743146877431468Human1name
407455456CV3422695single nucleotide variantNM_199355.4(ADAMTS18):c.668A>C (p.Asn223Thr)Inborn genetic diseases [RCV004610323]uncertain significance167736755177367551Human1name
597631667CV3645261single nucleotide variantNM_199355.4(ADAMTS18):c.706T>A (p.Ser236Thr)Inborn genetic diseases [RCV004967768]uncertain significance167736751377367513Human1name
597655368CV3649035single nucleotide variantNM_199355.4(ADAMTS18):c.715C>G (p.Arg239Gly)Inborn genetic diseases [RCV004976365]uncertain significance167736750477367504Human1name
597887452CV3741967single nucleotide variantNM_199355.4(ADAMTS18):c.3501G>T (p.Pro1167=)not provided [RCV005070687]likely benign167728931377289313Humanname
597926409CV3748899single nucleotide variantNM_199355.4(ADAMTS18):c.3234G>A (p.Lys1078=)not provided [RCV005075355]likely benign167729143477291434Humanname
597936579CV3759617single nucleotide variantNM_199355.4(ADAMTS18):c.3426G>A (p.Gly1142=)not provided [RCV005076737]likely benign167728938877289388Humanname
597934064CV3777008single nucleotide variantNM_199355.4(ADAMTS18):c.421C>T (p.Gln141Ter)not provided [RCV005117167]pathogenic167743136977431369Humanname
597885887CV3777324single nucleotide variantNM_199355.4(ADAMTS18):c.694A>T (p.Ile232Phe)not provided [RCV005124923]uncertain significance167736752577367525Humanname
597933186CV3780881single nucleotide variantNM_199355.4(ADAMTS18):c.3105C>T (p.Pro1035=)not provided [RCV005116993]likely benign167729316077293160Humanname
597917722CV3811208deletionNM_199355.4(ADAMTS18):c.2085del (p.Phe695fs)not provided [RCV005155243]pathogenic167732241477322414Humanname
597974749CV3831821single nucleotide variantNM_199355.4(ADAMTS18):c.3025C>A (p.Arg1009=)not provided [RCV005168760]likely benign167729324077293240Humanname
597965265CV3848275single nucleotide variantNM_199355.4(ADAMTS18):c.3534A>G (p.Pro1178=)not provided [RCV005194155]likely benign167728928077289280Humanname
597958127CV3849072single nucleotide variantNM_199355.4(ADAMTS18):c.952A>G (p.Ile318Val)not provided [RCV005192073]uncertain significance167736420877364208Humanname
598215901CV3891541single nucleotide variantNM_199355.4(ADAMTS18):c.514C>T (p.Arg172Ter)Microcornea-myopic chorioretinal atrophy [RCV005252383]pathogenic167736770577367705Human1name
598179334CV3943686single nucleotide variantNM_199355.4(ADAMTS18):c.848G>A (p.Arg283Lys)Inborn genetic diseases [RCV005310494]uncertain significance167736431277364312Human1name
598178814CV3947521single nucleotide variantNM_199355.4(ADAMTS18):c.389A>G (p.Asp130Gly)Inborn genetic diseases [RCV005310408]uncertain significance167743140177431401Human1name
8602292CV39627single nucleotide variantNM_199355.4(ADAMTS18):c.536C>T (p.Ser179Leu)Knobloch syndrome [RCV000023647]|not provided [RCV001857361]uncertain significance167736768377367683Human1name
15200857CV703826single nucleotide variantNM_199355.4(ADAMTS18):c.3525C>T (p.Asn1175=)not provided [RCV000957452]benign167728928977289289Humanname
15172295CV703827single nucleotide variantNM_199355.4(ADAMTS18):c.3501G>A (p.Pro1167=)not provided [RCV000949996]benign167728931377289313Humanname
15141082CV715082single nucleotide variantNM_199355.4(ADAMTS18):c.3120G>A (p.Gln1040=)not provided [RCV000966248]benign167729314577293145Humanname
15182057CV715086single nucleotide variantNM_199355.4(ADAMTS18):c.562G>A (p.Glu188Lys)not provided [RCV000974542]benign167736765777367657Humanname
15181642CV726797single nucleotide variantNM_199355.4(ADAMTS18):c.637C>T (p.Arg213Trp)not provided [RCV000885811]benign|likely benign167736758277367582Humanname
15187324CV726798single nucleotide variantNM_199355.4(ADAMTS18):c.601G>A (p.Val201Ile)not provided [RCV000887223]|not specified [RCV001700491]benign167736761877367618Human4name
15187324CV726798single nucleotide variantNM_199355.4(ADAMTS18):c.601G>A (p.Val201Ile)not provided [RCV000887223]|not specified [RCV001700491]benign167736761877367619Human4name
15201188CV726800single nucleotide variantNM_199355.4(ADAMTS18):c.438G>C (p.Gln146His)ADAMTS18-related disorder [RCV003940684]|not provided [RCV000891125]likely benign167743135277431352Human1name , alternate_id
15143182CV740352single nucleotide variantNM_199355.4(ADAMTS18):c.3573C>T (p.Phe1191=)not provided [RCV000899796]benign167728404977284049Humanname
15178816CV740353single nucleotide variantNM_199355.4(ADAMTS18):c.3180G>A (p.Ser1060=)not provided [RCV000906962]likely benign167729308577293085Humanname
15144634CV740363single nucleotide variantNM_199355.4(ADAMTS18):c.875G>A (p.Gly292Asp)not provided [RCV000900034]likely benign167736428577364285Humanname
8621908CV76947single nucleotide variantNM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro)Microcornea-myopic chorioretinal atrophy [RCV000056280]pathogenic167736761477367614Human1name
15131425CV785382single nucleotide variantNM_199355.4(ADAMTS18):c.3627C>T (p.Tyr1209=)not provided [RCV000981211]likely benign167728399577283995Humanname
21072889CV791643single nucleotide variantNM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His)Microcornea-myopic chorioretinal atrophy [RCV000989637]|not provided [RCV001521325]|not specified [RCV001529179]benign167736764877367648Human1name
26918838CV844320single nucleotide variantNM_199355.4(ADAMTS18):c.944C>T (p.Thr315Ile)not provided [RCV001044356]uncertain significance167736421677364216Humanname
26892464CV844321single nucleotide variantNM_199355.4(ADAMTS18):c.854C>T (p.Ser285Leu)not provided [RCV001061797]uncertain significance167736430677364306Humanname
26891996CV844322single nucleotide variantNM_199355.4(ADAMTS18):c.845C>G (p.Pro282Arg)Inborn genetic diseases [RCV003160491]|not provided [RCV001061207]uncertain significance167736431577364315Human1name
26884912CV844323single nucleotide variantNM_199355.4(ADAMTS18):c.741G>T (p.Arg247Ser)not provided [RCV001052806]uncertain significance167736747877367478Humanname
26905078CV844324single nucleotide variantNM_199355.4(ADAMTS18):c.664C>T (p.Arg222Trp)not provided [RCV001071554]uncertain significance167736755577367555Humanname
26887908CV844325single nucleotide variantNM_199355.4(ADAMTS18):c.638G>A (p.Arg213Gln)not provided [RCV001056923]uncertain significance167736758177367581Humanname
26891626CV844326single nucleotide variantNM_199355.4(ADAMTS18):c.583G>A (p.Ala195Thr)not provided [RCV001060749]uncertain significance167736763677367636Humanname
26904611CV844327single nucleotide variantNM_199355.4(ADAMTS18):c.557C>T (p.Ala186Val)Inborn genetic diseases [RCV004030767]|not provided [RCV001070896]uncertain significance167736766277367662Human1name
26886566CV844328single nucleotide variantNM_199355.4(ADAMTS18):c.529C>T (p.Leu177Phe)not provided [RCV001055125]uncertain significance167736769077367690Humanname
38487367CV927951single nucleotide variantNM_199355.4(ADAMTS18):c.587G>A (p.Gly196Asp)not provided [RCV001220705]uncertain significance167736763277367632Humanname
38474742CV927952single nucleotide variantNM_199355.4(ADAMTS18):c.386A>G (p.Lys129Arg)not provided [RCV001214873]uncertain significance167743140477431404Humanname
38468212CV937616single nucleotide variantNM_199355.4(ADAMTS18):c.721A>G (p.Thr241Ala)Inborn genetic diseases [RCV004033526]|not provided [RCV001202165]uncertain significance167736749877367498Human1name
38480403CV937617single nucleotide variantNM_199355.4(ADAMTS18):c.515G>A (p.Arg172Gln)not provided [RCV001206378]uncertain significance167736770477367704Humanname
38484765CV937618single nucleotide variantNM_199355.4(ADAMTS18):c.415G>A (p.Glu139Lys)not provided [RCV001208187]uncertain significance167743137577431375Humanname
38496793CV949573single nucleotide variantNM_199355.4(ADAMTS18):c.626A>G (p.Glu209Gly)Inborn genetic diseases [RCV002563675]|not provided [RCV001226630]uncertain significance167736759377367593Human1name
38498412CV957879single nucleotide variantNM_199355.4(ADAMTS18):c.697C>G (p.Pro233Ala)not provided [RCV001243808]uncertain significance167736752277367522Humanname
126755223CV997142single nucleotide variantNM_199355.4(ADAMTS18):c.3402G>A (p.Gln1134=)not provided [RCV001298303]uncertain significance167729126677291266Humanname
126739705CV997159single nucleotide variantNM_199355.4(ADAMTS18):c.791C>T (p.Pro264Leu)not provided [RCV001305176]uncertain significance167736436977364369Humanname
126767541CV997160single nucleotide variantNM_199355.4(ADAMTS18):c.757T>G (p.Phe253Val)ADAMTS18-related disorder [RCV004753271]|not provided [RCV001302323]uncertain significance167736746277367462Human1name , alternate_id
126754963CV997161single nucleotide variantNM_199355.4(ADAMTS18):c.737G>A (p.Arg246Gln)Inborn genetic diseases [RCV002541857]|not provided [RCV001298247]uncertain significance167736748277367482Human1name
126915036CV1049867single nucleotide variantNM_199355.4(ADAMTS18):c.2869C>A (p.Gln957Lys)not provided [RCV001370684]uncertain significance167729506077295060Humanname
126918545CV1049873single nucleotide variantNM_199355.4(ADAMTS18):c.1787C>T (p.Ser596Leu)Inborn genetic diseases [RCV005318774]|not provided [RCV001361786]uncertain significance167733582877335828Human1name
126912749CV1049874single nucleotide variantNM_199355.4(ADAMTS18):c.1730G>A (p.Cys577Tyr)not provided [RCV001358928]uncertain significance167733588577335885Humanname
126915411CV1049875single nucleotide variantNM_199355.4(ADAMTS18):c.1727A>G (p.Gln576Arg)not provided [RCV001370900]uncertain significance167733588877335888Humanname
8647120CV106756single nucleotide variantNM_199355.4(ADAMTS18):c.1453T>A (p.Phe485Ile)not provided [RCV000087258]uncertain significance167735594777355947Humanname
151816281CV1342113single nucleotide variantNM_199355.4(ADAMTS18):c.2767C>A (p.Pro923Thr)Inborn genetic diseases [RCV002564440]|Retinal dystrophy [RCV004816841]|not provided [RCV001975287]uncertain significance167729732377297323Human3name
151829908CV1343383single nucleotide variantNM_199355.4(ADAMTS18):c.2324G>A (p.Arg775Gln)not provided [RCV001920390]uncertain significance167732005777320057Humanname
151864377CV1346595single nucleotide variantNM_199355.4(ADAMTS18):c.1474G>A (p.Gly492Arg)not provided [RCV001959641]uncertain significance167735387377353873Humanname
151891120CV1346910single nucleotide variantNM_199355.4(ADAMTS18):c.2467C>T (p.Arg823Cys)not provided [RCV002039011]uncertain significance167731991477319914Humanname
151796623CV1347912single nucleotide variantNM_199355.4(ADAMTS18):c.2813G>A (p.Gly938Asp)Inborn genetic diseases [RCV004612046]|not provided [RCV001990566]uncertain significance167729511677295116Human1name
151767650CV1348746single nucleotide variantNM_199355.4(ADAMTS18):c.2726A>G (p.Asn909Ser)not provided [RCV001896022]uncertain significance167729736477297364Humanname
151810775CV1350290single nucleotide variantNM_199355.4(ADAMTS18):c.1049A>G (p.Gln350Arg)not provided [RCV002048834]uncertain significance167736380977363809Humanname
151885488CV1351011single nucleotide variantNM_199355.4(ADAMTS18):c.2782G>A (p.Ala928Thr)Inborn genetic diseases [RCV004970433]|not provided [RCV001887365]uncertain significance167729730877297308Human1name
151823477CV1351457single nucleotide variantNM_199355.4(ADAMTS18):c.1422G>T (p.Trp474Cys)not provided [RCV001993011]uncertain significance167735597877355978Humanname
151803879CV1352702single nucleotide variantNM_199355.4(ADAMTS18):c.1548T>A (p.Asp516Glu)not provided [RCV001899315]uncertain significance167735379977353799Humanname
151847985CV1352852single nucleotide variantNM_199355.4(ADAMTS18):c.2342A>T (p.Glu781Val)not provided [RCV001922382]uncertain significance167732003977320039Humanname
151802918CV1354426single nucleotide variantNM_199355.4(ADAMTS18):c.1609G>T (p.Val537Leu)not provided [RCV001867289]uncertain significance167735373877353738Humanname
151877346CV1368831single nucleotide variantNM_199355.4(ADAMTS18):c.1991G>A (p.Arg664His)Inborn genetic diseases [RCV005321068]|not provided [RCV001999095]uncertain significance167732590777325907Human1name
151805139CV1369073single nucleotide variantNM_199355.4(ADAMTS18):c.1157C>G (p.Ala386Gly)not provided [RCV001991307]uncertain significance167736216477362164Humanname
151882417CV1371267single nucleotide variantNM_199355.4(ADAMTS18):c.2597G>T (p.Gly866Val)not provided [RCV001886723]uncertain significance167730034077300340Humanname
151846400CV1386480single nucleotide variantNM_199355.4(ADAMTS18):c.2719C>A (p.Gln907Lys)not provided [RCV001882000]uncertain significance167729737177297371Humanname
151725958CV1387095single nucleotide variantNM_199355.4(ADAMTS18):c.2374C>T (p.Arg792Ter)not provided [RCV001910335]pathogenic167732000777320007Humanname
151839820CV1391298single nucleotide variantNM_199355.4(ADAMTS18):c.1616A>G (p.Asp539Gly)Inborn genetic diseases [RCV003170286]|not provided [RCV001977553]uncertain significance167734179877341798Human1name
151836913CV1392057single nucleotide variantNM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter)ADAMTS18-related disorder [RCV003407874]|not provided [RCV001902395]pathogenic|likely pathogenic167736381077363810Human1name , alternate_id
151837248CV1392167single nucleotide variantNM_199355.4(ADAMTS18):c.2404G>C (p.Gly802Arg)not provided [RCV001902429]uncertain significance167731997777319977Humanname
151892763CV1398956single nucleotide variantNM_199355.4(ADAMTS18):c.2600C>T (p.Thr867Ile)not provided [RCV001944459]uncertain significance167730033777300337Humanname
151892817CV1399083single nucleotide variantNM_199355.4(ADAMTS18):c.2185C>G (p.Leu729Val)not provided [RCV001944511]uncertain significance167732118177321181Humanname
151804089CV1401643single nucleotide variantNM_199355.4(ADAMTS18):c.1807C>T (p.Arg603Trp)not provided [RCV001932578]uncertain significance167733580877335808Humanname
151773634CV1402199single nucleotide variantNM_199355.4(ADAMTS18):c.1376A>G (p.Asn459Ser)not provided [RCV001929765]uncertain significance167735602477356024Humanname
151746133CV1402649single nucleotide variantNM_199355.4(ADAMTS18):c.1739T>C (p.Phe580Ser)not provided [RCV001912441]uncertain significance167733587677335876Humanname
151743066CV1404397single nucleotide variantNM_199355.4(ADAMTS18):c.2972G>A (p.Cys991Tyr)not provided [RCV002022512]uncertain significance167729495777294957Humanname
151721912CV1406562single nucleotide variantNM_199355.4(ADAMTS18):c.2371G>A (p.Val791Ile)not provided [RCV002003799]uncertain significance167732001077320010Humanname
151730889CV1406984single nucleotide variantNM_199355.4(ADAMTS18):c.1436G>T (p.Arg479Leu)not provided [RCV002021287]uncertain significance167735596477355964Humanname
151752832CV1407209single nucleotide variantNM_199355.4(ADAMTS18):c.2585A>T (p.Lys862Met)not provided [RCV002023566]uncertain significance167730035277300352Humanname
151857573CV1408118single nucleotide variantNM_199355.4(ADAMTS18):c.1813T>A (p.Cys605Ser)not provided [RCV001883513]uncertain significance167733580277335802Humanname
151857871CV1408197single nucleotide variantNM_199355.4(ADAMTS18):c.1573T>C (p.Phe525Leu)not provided [RCV001883548]uncertain significance167735377477353774Humanname
151887845CV1409173single nucleotide variantNM_199355.4(ADAMTS18):c.2507C>G (p.Pro836Arg)not provided [RCV001942473]uncertain significance167731987477319874Humanname
151728903CV1410060single nucleotide variantNM_199355.4(ADAMTS18):c.2808G>A (p.Met936Ile)not provided [RCV001910663]uncertain significance167729512177295121Humanname
151795280CV1411026single nucleotide variantNM_199355.4(ADAMTS18):c.2471C>T (p.Ser824Phe)not provided [RCV001973422]uncertain significance167731991077319910Humanname
151844597CV1416843single nucleotide variantNM_199355.4(ADAMTS18):c.1315G>A (p.Gly439Arg)not provided [RCV001978117]uncertain significance167735932577359325Humanname
151773699CV1417181single nucleotide variantNM_199355.4(ADAMTS18):c.1593A>T (p.Leu531Phe)not provided [RCV001971425]uncertain significance167735375477353754Humanname
151811983CV1417540single nucleotide variantNM_199355.4(ADAMTS18):c.1256G>C (p.Ser419Thr)not provided [RCV002029059]uncertain significance167735938477359384Humanname
151721477CV1421747deletionNM_199355.4(ADAMTS18):c.3105del (p.Arg1036fs)not provided [RCV001909798]pathogenic167729316077293160Humanname
151859485CV1423078single nucleotide variantNM_199355.4(ADAMTS18):c.1435C>T (p.Arg479Cys)not provided [RCV001923818]uncertain significance167735596577355965Humanname
151773846CV1424079single nucleotide variantNM_199355.4(ADAMTS18):c.2602C>G (p.Pro868Ala)not provided [RCV002025620]uncertain significance167730033577300335Humanname
151799495CV1426298single nucleotide variantNM_199355.4(ADAMTS18):c.2515G>C (p.Glu839Gln)not provided [RCV001990819]uncertain significance167731986677319866Humanname
151887296CV1426718single nucleotide variantNM_199355.4(ADAMTS18):c.2703G>C (p.Leu901Phe)not provided [RCV002038158]uncertain significance167729738777297387Humanname
151745133CV1428112single nucleotide variantNM_199355.4(ADAMTS18):c.2314G>C (p.Ala772Pro)not provided [RCV001926873]uncertain significance167732006777320067Humanname
151848733CV1430995single nucleotide variantNM_199355.4(ADAMTS18):c.1778C>A (p.Ser593Tyr)not provided [RCV001922484]uncertain significance167733583777335837Humanname
151743127CV1431039single nucleotide variantNM_199355.4(ADAMTS18):c.2512A>G (p.Asn838Asp)not provided [RCV001893469]uncertain significance167731986977319869Humanname
151763200CV1433927single nucleotide variantNM_199355.4(ADAMTS18):c.1867T>G (p.Tyr623Asp)not provided [RCV002024613]uncertain significance167732603177326031Humanname
151760023CV1434957single nucleotide variantNM_199355.4(ADAMTS18):c.2870A>G (p.Gln957Arg)not provided [RCV001913869]uncertain significance167729505977295059Humanname
151776611CV1436508single nucleotide variantNM_199355.4(ADAMTS18):c.1829A>C (p.Lys610Thr)Retinal dystrophy [RCV004816866]|not provided [RCV001971687]uncertain significance167733578677335786Human2name
151827430CV1437800single nucleotide variantNM_199355.4(ADAMTS18):c.1850A>G (p.Asn617Ser)not provided [RCV001920160]uncertain significance167733576577335765Humanname
151816384CV1440990single nucleotide variantNM_199355.4(ADAMTS18):c.2603C>A (p.Pro868Gln)not provided [RCV001933715]uncertain significance167730033477300334Humanname
151865134CV1443115single nucleotide variantNM_199355.4(ADAMTS18):c.2438C>A (p.Pro813His)Inborn genetic diseases [RCV004038711]|not provided [RCV002034960]uncertain significance167731994377319943Human1name
151757340CV1443507single nucleotide variantNM_199355.4(ADAMTS18):c.2593A>C (p.Asn865His)not provided [RCV001872853]uncertain significance167730034477300344Humanname
151803924CV1444075deletionNM_199355.4(ADAMTS18):c.3067del (p.Ala1023fs)not provided [RCV001917963]pathogenic167729319877293198Humanname
151867044CV1446515single nucleotide variantNM_199355.4(ADAMTS18):c.2038G>T (p.Asp680Tyr)not provided [RCV001980841]uncertain significance167732246177322461Humanname
151753439CV1457565single nucleotide variantNM_199355.4(ADAMTS18):c.2200G>T (p.Val734Phe)not provided [RCV001913216]uncertain significance167732116677321166Humanname
151852283CV1459538single nucleotide variantNM_199355.4(ADAMTS18):c.2555C>T (p.Pro852Leu)not provided [RCV002033336]uncertain significance167730038277300382Humanname
151744851CV1460725single nucleotide variantNM_199355.4(ADAMTS18):c.2978C>A (p.Pro993Gln)not provided [RCV001871397]uncertain significance167729495177294951Humanname
151847319CV1461734single nucleotide variantNM_199355.4(ADAMTS18):c.1492C>T (p.Pro498Ser)not provided [RCV001936886]uncertain significance167735385577353855Humanname
151840960CV1463039single nucleotide variantNM_199355.4(ADAMTS18):c.1174T>G (p.Phe392Val)not provided [RCV002031811]uncertain significance167736214777362147Humanname
151850555CV1465871single nucleotide variantNM_199355.4(ADAMTS18):c.2365C>G (p.Leu789Val)Inborn genetic diseases [RCV003346706]|not provided [RCV002033115]uncertain significance167732001677320016Human1name
151793260CV1467654single nucleotide variantNM_199355.4(ADAMTS18):c.2908G>A (p.Val970Met)not provided [RCV001931623]uncertain significance167729502177295021Humanname
151782494CV1469063single nucleotide variantNM_199355.4(ADAMTS18):c.1585G>A (p.Ala529Thr)not provided [RCV002026393]uncertain significance167735376277353762Humanname
151738026CV1469494single nucleotide variantNM_199355.4(ADAMTS18):c.1579G>A (p.Ala527Thr)Inborn genetic diseases [RCV005308522]|not provided [RCV002041936]uncertain significance167735376877353768Human1name
151838127CV1470008single nucleotide variantNM_199355.4(ADAMTS18):c.1972T>C (p.Tyr658His)not provided [RCV001881023]uncertain significance167732592677325926Humanname
151887152CV1471903single nucleotide variantNM_199355.4(ADAMTS18):c.1138G>A (p.Gly380Ser)not provided [RCV002000826]uncertain significance167736218377362183Humanname
151815477CV1475759single nucleotide variantNM_199355.4(ADAMTS18):c.2042G>C (p.Arg681Pro)not provided [RCV001992242]uncertain significance167732245777322457Humanname
151800210CV1480046single nucleotide variantNM_199355.4(ADAMTS18):c.1213C>G (p.Leu405Val)not provided [RCV001898994]uncertain significance167736210877362108Humanname
151866741CV1480923single nucleotide variantNM_199355.4(ADAMTS18):c.2146A>G (p.Ile716Val)not provided [RCV001959922]uncertain significance167732235377322353Humanname
151818206CV1482076single nucleotide variantNM_199355.4(ADAMTS18):c.2408G>A (p.Gly803Asp)not provided [RCV002029627]uncertain significance167731997377319973Humanname
151876051CV1483330single nucleotide variantNM_199355.4(ADAMTS18):c.2926C>T (p.Pro976Ser)Inborn genetic diseases [RCV002555683]|not provided [RCV001907076]uncertain significance167729500377295003Human1name
151875121CV1486744single nucleotide variantNM_199355.4(ADAMTS18):c.1615G>A (p.Asp539Asn)not provided [RCV001906970]uncertain significance167734179977341799Humanname
151788938CV1488957single nucleotide variantNM_199355.4(ADAMTS18):c.2359A>G (p.Ser787Gly)not provided [RCV002010499]uncertain significance167732002277320022Humanname
151778360CV1493314single nucleotide variantNM_199355.4(ADAMTS18):c.2419G>A (p.Asp807Asn)not provided [RCV001915640]uncertain significance167731996277319962Humanname
151846157CV1495044single nucleotide variantNM_199355.4(ADAMTS18):c.2914C>G (p.His972Asp)not provided [RCV001978305]uncertain significance167729501577295015Humanname
151779174CV1496788single nucleotide variantNM_199355.4(ADAMTS18):c.2641G>C (p.Val881Leu)not provided [RCV001930268]uncertain significance167730029677300296Humanname
151753081CV1501099single nucleotide variantNM_199355.4(ADAMTS18):c.2987G>T (p.Ser996Ile)not provided [RCV001969397]uncertain significance167729494277294942Humanname
151798476CV1503938single nucleotide variantNM_199355.4(ADAMTS18):c.1660G>A (p.Glu554Lys)not provided [RCV001973687]uncertain significance167734175477341754Humanname
151833945CV1504859single nucleotide variantNM_199355.4(ADAMTS18):c.2203T>A (p.Ser735Thr)not provided [RCV001976931]uncertain significance167732116377321163Humanname
151794964CV1506287single nucleotide variantNM_199355.4(ADAMTS18):c.2065G>A (p.Glu689Lys)not provided [RCV001917171]uncertain significance167732243477322434Humanname
151751300CV1508379single nucleotide variantNM_199355.4(ADAMTS18):c.2076A>T (p.Glu692Asp)not provided [RCV001986310]uncertain significance167732242377322423Humanname
151790845CV1509172single nucleotide variantNM_199355.4(ADAMTS18):c.1979G>C (p.Ser660Thr)not provided [RCV001876498]uncertain significance167732591977325919Humanname
151795970CV1512595single nucleotide variantNM_199355.4(ADAMTS18):c.1252C>T (p.Arg418Ter)not provided [RCV001866682]pathogenic167735938877359388Humanname
151872801CV1513555single nucleotide variantNM_199355.4(ADAMTS18):c.1898G>T (p.Arg633Leu)not provided [RCV001940034]uncertain significance167732600077326000Humanname
151889855CV1514374single nucleotide variantNM_199355.4(ADAMTS18):c.2489G>A (p.Arg830His)not provided [RCV001963512]uncertain significance167731989277319892Humanname
151889891CV1514388single nucleotide variantNM_199355.4(ADAMTS18):c.1079A>G (p.His360Arg)not provided [RCV001963518]uncertain significance167736224277362242Humanname
151789232CV1515201single nucleotide variantNM_199355.4(ADAMTS18):c.2027T>C (p.Val676Ala)Inborn genetic diseases [RCV004046880]|not provided [RCV002027055]uncertain significance167732587177325871Human1name
151729811CV1515583single nucleotide variantNM_199355.4(ADAMTS18):c.1266C>G (p.Ile422Met)not provided [RCV002041077]uncertain significance167735937477359374Humanname
151868087CV1516573single nucleotide variantNM_199355.4(ADAMTS18):c.1211C>T (p.Thr404Ile)not provided [RCV001980953]uncertain significance167736211077362110Humanname
151888509CV1517142single nucleotide variantNM_199355.4(ADAMTS18):c.2717C>T (p.Thr906Ile)not provided [RCV002038415]uncertain significance167729737377297373Humanname
155749318CV1775455single nucleotide variantNM_199355.4(ADAMTS18):c.2282C>G (p.Ala761Gly)not provided [RCV002304525]uncertain significance167732108477321084Humanname
155712466CV1775904single nucleotide variantNM_199355.4(ADAMTS18):c.2363A>G (p.Tyr788Cys)not provided [RCV002296258]uncertain significance167732001877320018Humanname
156398679CV1881131single nucleotide variantNM_199355.4(ADAMTS18):c.2708A>G (p.Asp903Gly)not provided [RCV003068917]uncertain significance167729738277297382Humanname
156027259CV1906752single nucleotide variantNM_199355.4(ADAMTS18):c.1704G>C (p.Leu568Phe)not provided [RCV003100485]uncertain significance167734171077341710Humanname
156359016CV1910558single nucleotide variantNM_199355.4(ADAMTS18):c.1147C>T (p.His383Tyr)not provided [RCV002632542]uncertain significance167736217477362174Humanname
156132676CV1962779single nucleotide variantNM_199355.4(ADAMTS18):c.2914C>T (p.His972Tyr)not provided [RCV002572288]uncertain significance167729501577295015Humanname
156406878CV1963807single nucleotide variantNM_199355.4(ADAMTS18):c.1580C>T (p.Ala527Val)not provided [RCV002586046]uncertain significance167735376777353767Humanname
156315167CV1966854single nucleotide variantNM_199355.4(ADAMTS18):c.2871G>T (p.Gln957His)not provided [RCV002578912]uncertain significance167729505877295058Humanname
156041536CV1967150single nucleotide variantNM_199355.4(ADAMTS18):c.1532C>T (p.Pro511Leu)Inborn genetic diseases [RCV004065622]|not provided [RCV002590342]uncertain significance167735381577353815Human1name
156385701CV1971965single nucleotide variantNM_199355.4(ADAMTS18):c.2722G>A (p.Val908Ile)not provided [RCV002604277]uncertain significance167729736877297368Humanname
156245437CV1973404single nucleotide variantNM_199355.4(ADAMTS18):c.1658G>A (p.Cys553Tyr)not provided [RCV002597292]uncertain significance167734175677341756Humanname
156146122CV1973834single nucleotide variantNM_199355.4(ADAMTS18):c.1807C>G (p.Arg603Gly)not provided [RCV002593995]uncertain significance167733580877335808Humanname
156320500CV1976010single nucleotide variantNM_199355.4(ADAMTS18):c.1642C>T (p.Arg548Ter)not provided [RCV002600200]pathogenic167734177277341772Humanname
156118200CV1982619single nucleotide variantNM_199355.4(ADAMTS18):c.2408G>T (p.Gly803Val)not provided [RCV002622842]uncertain significance167731997377319973Humanname
156325641CV1985306single nucleotide variantNM_199355.4(ADAMTS18):c.2621C>T (p.Pro874Leu)Inborn genetic diseases [RCV002635608]|not provided [RCV002649537]uncertain significance167730031677300316Human1name
156076556CV1985692indelNM_199355.4(ADAMTS18):c.973-11_973-10delinsAAnot provided [RCV002638761]uncertain significance167736389577363896Humanname
156352227CV1985720single nucleotide variantNM_199355.4(ADAMTS18):c.1808G>A (p.Arg603Gln)Inborn genetic diseases [RCV004066632]|not provided [RCV002632060]uncertain significance167733580777335807Human1name
156003912CV1988020single nucleotide variantNM_199355.4(ADAMTS18):c.2521C>G (p.Leu841Val)not provided [RCV002618576]uncertain significance167731986077319860Humanname
156009057CV1989587single nucleotide variantNM_199355.4(ADAMTS18):c.1750G>A (p.Gly584Arg)not provided [RCV002636126]uncertain significance167733586577335865Humanname
156389035CV1989943single nucleotide variantNM_199355.4(ADAMTS18):c.1600C>A (p.Leu534Ile)not provided [RCV002604508]uncertain significance167735374777353747Humanname
156391812CV1990216single nucleotide variantNM_199355.4(ADAMTS18):c.2404G>A (p.Gly802Arg)not provided [RCV002604739]uncertain significance167731997777319977Humanname
156128380CV1993159single nucleotide variantNM_199355.4(ADAMTS18):c.2576C>G (p.Ala859Gly)not provided [RCV002623215]uncertain significance167730036177300361Humanname
156340267CV1994105single nucleotide variantNM_199355.4(ADAMTS18):c.1742G>C (p.Gly581Ala)Inborn genetic diseases [RCV005321205]|not provided [RCV002650279]uncertain significance167733587377335873Human1name
156387786CV1995935single nucleotide variantNM_199355.4(ADAMTS18):c.1717C>T (p.Arg573Trp)not provided [RCV002654118]uncertain significance167733589877335898Humanname
156292928CV1998350single nucleotide variantNM_199355.4(ADAMTS18):c.1526A>G (p.Lys509Arg)Inborn genetic diseases [RCV005308804]|not provided [RCV002670840]uncertain significance167735382177353821Human1name
156131086CV1998420single nucleotide variantNM_199355.4(ADAMTS18):c.1898G>A (p.Arg633His)not provided [RCV002663222]uncertain significance167732600077326000Humanname
156357941CV2006740single nucleotide variantNM_199355.4(ADAMTS18):c.2014C>T (p.Pro672Ser)not provided [RCV002676053]uncertain significance167732588477325884Humanname
156290626CV2009666single nucleotide variantNM_199355.4(ADAMTS18):c.2755C>G (p.Pro919Ala)not provided [RCV002715636]uncertain significance167729733577297335Humanname
156402600CV2010098single nucleotide variantNM_199355.4(ADAMTS18):c.2771A>G (p.Lys924Arg)Inborn genetic diseases [RCV003348895]|not provided [RCV002726140]uncertain significance167729731977297319Human1name
156177867CV2010447single nucleotide variantNM_199355.4(ADAMTS18):c.1032C>G (p.Ser344Arg)not provided [RCV002710686]uncertain significance167736382677363826Humanname
155951669CV2014027single nucleotide variantNM_199355.4(ADAMTS18):c.2432A>G (p.Glu811Gly)not provided [RCV002686055]uncertain significance167731994977319949Humanname
156008493CV2015178single nucleotide variantNM_199355.4(ADAMTS18):c.2312C>T (p.Pro771Leu)not provided [RCV002690386]uncertain significance167732006977320069Humanname
156394706CV2015831single nucleotide variantNM_199355.4(ADAMTS18):c.1708A>G (p.Met570Val)not provided [RCV002725427]uncertain significance167734170677341706Humanname
156374138CV2028367single nucleotide variantNM_199355.4(ADAMTS18):c.1656G>T (p.Arg552Ser)not provided [RCV002721770]uncertain significance167734175877341758Humanname
155912202CV2029488single nucleotide variantNM_199355.4(ADAMTS18):c.1514A>C (p.Lys505Thr)not provided [RCV002750224]uncertain significance167735383377353833Humanname
156369621CV2030993single nucleotide variantNM_199355.4(ADAMTS18):c.2759T>C (p.Val920Ala)not provided [RCV002721425]uncertain significance167729733177297331Humanname
155988652CV2053012single nucleotide variantNM_199355.4(ADAMTS18):c.2421C>G (p.Asp807Glu)not provided [RCV002819100]uncertain significance167731996077319960Humanname
156008150CV2054441single nucleotide variantNM_199355.4(ADAMTS18):c.1939A>G (p.Ser647Gly)not provided [RCV002819979]uncertain significance167732595977325959Humanname
156235273CV2056250single nucleotide variantNM_199355.4(ADAMTS18):c.1859A>C (p.Lys620Thr)not provided [RCV002791148]uncertain significance167733575677335756Humanname
156375819CV2059409single nucleotide variantNM_199355.4(ADAMTS18):c.2132A>G (p.Lys711Arg)not provided [RCV002814680]uncertain significance167732236777322367Humanname
156308804CV2067120single nucleotide variantNM_199355.4(ADAMTS18):c.2863A>G (p.Lys955Glu)not provided [RCV002833998]uncertain significance167729506677295066Humanname
155979848CV2073305single nucleotide variantNM_199355.4(ADAMTS18):c.1318C>T (p.His440Tyr)not provided [RCV002842463]uncertain significance167735932277359322Humanname
156207338CV2074075single nucleotide variantNM_199355.4(ADAMTS18):c.1957C>G (p.Gln653Glu)not provided [RCV002829168]uncertain significance167732594177325941Humanname
156110804CV2077739single nucleotide variantNM_199355.4(ADAMTS18):c.2204C>G (p.Ser735Ter)not provided [RCV002889180]pathogenic167732116277321162Humanname
156199517CV2083275deletionNM_199355.4(ADAMTS18):c.3427del (p.Val1143fs)not provided [RCV002852415]uncertain significance167728938777289387Humanname
156232808CV2093898single nucleotide variantNM_199355.4(ADAMTS18):c.2138A>T (p.Asp713Val)not provided [RCV002894618]uncertain significance167732236177322361Humanname
155998417CV2106611single nucleotide variantNM_199355.4(ADAMTS18):c.1046A>G (p.Glu349Gly)not provided [RCV002947669]uncertain significance167736381277363812Humanname
156334719CV2109150single nucleotide variantNM_199355.4(ADAMTS18):c.1226C>T (p.Pro409Leu)not provided [RCV002938564]uncertain significance167735941477359414Humanname
156217395CV2111066single nucleotide variantNM_199355.4(ADAMTS18):c.1357T>C (p.Cys453Arg)not provided [RCV002932317]uncertain significance167735604377356043Humanname
155943731CV2111300single nucleotide variantNM_199355.4(ADAMTS18):c.2891T>C (p.Phe964Ser)not provided [RCV002904643]uncertain significance167729503877295038Humanname
156117412CV2115777single nucleotide variantNM_199355.4(ADAMTS18):c.2690A>G (p.Lys897Arg)not provided [RCV002927676]uncertain significance167729740077297400Humanname
156010485CV2126848single nucleotide variantNM_199355.4(ADAMTS18):c.1951C>T (p.Arg651Trp)not provided [RCV002975620]uncertain significance167732594777325947Humanname
156139787CV2129447single nucleotide variantNM_199355.4(ADAMTS18):c.2651A>C (p.Glu884Ala)not provided [RCV002954185]uncertain significance167730028677300286Humanname
155975889CV2136124single nucleotide variantNM_199355.4(ADAMTS18):c.1625A>C (p.Lys542Thr)not provided [RCV002995849]uncertain significance167734178977341789Humanname
156162194CV2136879single nucleotide variantNM_199355.4(ADAMTS18):c.2436C>G (p.Phe812Leu)not provided [RCV003005107]uncertain significance167731994577319945Humanname
156317551CV2137823single nucleotide variantNM_199355.4(ADAMTS18):c.2443G>T (p.Ala815Ser)not provided [RCV002962993]uncertain significance167731993877319938Humanname
155946168CV2139454single nucleotide variantNM_199355.4(ADAMTS18):c.2387A>G (p.Gln796Arg)Inborn genetic diseases [RCV004065286]|not provided [RCV002994355]uncertain significance167731999477319994Human1name
156027183CV2145788single nucleotide variantNM_199355.4(ADAMTS18):c.2348A>G (p.Gln783Arg)not provided [RCV003018514]uncertain significance167732003377320033Humanname
155936817CV2146247single nucleotide variantNM_199355.4(ADAMTS18):c.1673T>C (p.Met558Thr)not provided [RCV003013998]uncertain significance167734174177341741Humanname
156122958CV2147313single nucleotide variantNM_199355.4(ADAMTS18):c.2364C>G (p.Tyr788Ter)not provided [RCV003021871]pathogenic167732001777320017Humanname
156160589CV2147350single nucleotide variantNM_199355.4(ADAMTS18):c.1169C>G (p.Thr390Arg)not provided [RCV003023180]uncertain significance167736215277362152Humanname
156019527CV2151756single nucleotide variantNM_199355.4(ADAMTS18):c.2765A>C (p.Glu922Ala)not provided [RCV003018161]uncertain significance167729732577297325Humanname
156178835CV2162521single nucleotide variantNM_199355.4(ADAMTS18):c.2010G>C (p.Trp670Cys)not provided [RCV003023762]uncertain significance167732588877325888Humanname
156335237CV2168323single nucleotide variantNM_199355.4(ADAMTS18):c.2749A>G (p.Thr917Ala)not provided [RCV003029985]uncertain significance167729734177297341Humanname
156371251CV2168617single nucleotide variantNM_199355.4(ADAMTS18):c.2821A>G (p.Ser941Gly)not provided [RCV003032247]uncertain significance167729510877295108Humanname
156218785CV2172026single nucleotide variantNM_199355.4(ADAMTS18):c.1771C>A (p.Gln591Lys)not provided [RCV003042633]uncertain significance167733584477335844Humanname
156136215CV2181552single nucleotide variantNM_199355.4(ADAMTS18):c.2636G>C (p.Ser879Thr)not provided [RCV003039875]uncertain significance167730030177300301Humanname
156259536CV2181629single nucleotide variantNM_199355.4(ADAMTS18):c.1268A>T (p.Asn423Ile)not provided [RCV003044070]uncertain significance167735937277359372Humanname
156045378CV2186407single nucleotide variantNM_199355.4(ADAMTS18):c.2110G>A (p.Gly704Arg)not provided [RCV003036722]uncertain significance167732238977322389Humanname
156301799CV2189609single nucleotide variantNM_199355.4(ADAMTS18):c.1902T>G (p.Ile634Met)not provided [RCV003061998]uncertain significance167732599677325996Humanname
156301385CV2248974single nucleotide variantNM_199355.4(ADAMTS18):c.1007G>C (p.Ser336Thr)Inborn genetic diseases [RCV002808136]uncertain significance167736385177363851Human1name
156099959CV2250714single nucleotide variantNM_199355.4(ADAMTS18):c.2209G>A (p.Ala737Thr)Inborn genetic diseases [RCV002799059]uncertain significance167732115777321157Human1name
156255313CV2264722single nucleotide variantNM_199355.4(ADAMTS18):c.2170G>A (p.Gly724Arg)Inborn genetic diseases [RCV002831368]uncertain significance167732119677321196Human1name
156045715CV2268620single nucleotide variantNM_199355.4(ADAMTS18):c.2368G>T (p.Ala790Ser)Inborn genetic diseases [RCV002822021]uncertain significance167732001377320013Human1name
156073972CV2281408single nucleotide variantNM_199355.4(ADAMTS18):c.2578C>T (p.Leu860Phe)Inborn genetic diseases [RCV002868865]uncertain significance167730035977300359Human1name
155941459CV2294254single nucleotide variantNM_199355.4(ADAMTS18):c.2845G>A (p.Gly949Arg)Inborn genetic diseases [RCV002879702]uncertain significance167729508477295084Human1name
155907508CV2302229single nucleotide variantNM_199355.4(ADAMTS18):c.2360G>C (p.Ser787Thr)Inborn genetic diseases [RCV002902031]uncertain significance167732002177320021Human1name
156260209CV2305059single nucleotide variantNM_199355.4(ADAMTS18):c.1472C>T (p.Ala491Val)Inborn genetic diseases [RCV002920450]uncertain significance167735387577353875Human1name
155938447CV2380753single nucleotide variantNM_199355.4(ADAMTS18):c.1406A>G (p.Asn469Ser)Inborn genetic diseases [RCV002729826]uncertain significance167735599477355994Human1name
156162548CV2395714single nucleotide variantNM_199355.4(ADAMTS18):c.2479C>T (p.Arg827Cys)Inborn genetic diseases [RCV002764812]uncertain significance167731990277319902Human1name
243062523CV2404969single nucleotide variantNM_199355.4(ADAMTS18):c.1455C>A (p.Phe485Leu)Microcornea-myopic chorioretinal atrophy [RCV003225801]uncertain significance167735594577355945Human1name
329392468CV2468136single nucleotide variantNM_199355.4(ADAMTS18):c.1856C>G (p.Pro619Arg)Inborn genetic diseases [RCV003217786]uncertain significance167733575977335759Human1name
401732744CV2691096single nucleotide variantNM_199355.4(ADAMTS18):c.1484T>C (p.Val495Ala)Inborn genetic diseases [RCV003290270]uncertain significance167735386377353863Human1name
401771809CV2693525single nucleotide variantNM_199355.4(ADAMTS18):c.1235G>C (p.Gly412Ala)Inborn genetic diseases [RCV003284838]uncertain significance167735940577359405Human1name
401749304CV2694612single nucleotide variantNM_199355.4(ADAMTS18):c.1037T>C (p.Ile346Thr)Inborn genetic diseases [RCV003253287]uncertain significance167736382177363821Human1name
401717841CV2703431single nucleotide variantNM_199355.4(ADAMTS18):c.1801T>C (p.Cys601Arg)Inborn genetic diseases [RCV003242854]uncertain significance167733581477335814Human1name
401749901CV2704794single nucleotide variantNM_199355.4(ADAMTS18):c.2620C>T (p.Pro874Ser)Inborn genetic diseases [RCV003276591]uncertain significance167730031777300317Human1name
401763159CV2707549single nucleotide variantNM_199355.4(ADAMTS18):c.1465C>A (p.Pro489Thr)Inborn genetic diseases [RCV003281437]uncertain significance167735388277353882Human1name
401749247CV2708518single nucleotide variantNM_199355.4(ADAMTS18):c.1121C>A (p.Ala374Asp)Inborn genetic diseases [RCV003294841]uncertain significance167736220077362200Human1name
401777434CV2721719single nucleotide variantNM_199355.4(ADAMTS18):c.2006A>C (p.Gln669Pro)Inborn genetic diseases [RCV003263543]uncertain significance167732589277325892Human1name
401894240CV2770398single nucleotide variantNM_199355.4(ADAMTS18):c.2341G>A (p.Glu781Lys)Inborn genetic diseases [RCV003371233]uncertain significance167732004077320040Human1name
401874417CV2773951single nucleotide variantNM_199355.4(ADAMTS18):c.1399G>A (p.Gly467Arg)Inborn genetic diseases [RCV003362251]uncertain significance167735600177356001Human1name
401894894CV2782041single nucleotide variantNM_199355.4(ADAMTS18):c.1339G>A (p.Asp447Asn)Inborn genetic diseases [RCV003371981]uncertain significance167735606177356061Human1name
402483882CV2998177single nucleotide variantNM_199355.4(ADAMTS18):c.1136A>G (p.Asn379Ser)not provided [RCV003686876]uncertain significance167736218577362185Humanname
402516573CV3135854single nucleotide variantNM_199355.4(ADAMTS18):c.1018G>A (p.Val340Met)not provided [RCV003824480]uncertain significance167736384077363840Humanname
405684236CV3235503single nucleotide variantNM_199355.4(ADAMTS18):c.2365C>A (p.Leu789Ile)Inborn genetic diseases [RCV004372017]uncertain significance167732001677320016Human1name
405684424CV3235541single nucleotide variantNM_199355.4(ADAMTS18):c.2591T>C (p.Met864Thr)Inborn genetic diseases [RCV004372055]likely benign167730034677300346Human1name
405684440CV3235544single nucleotide variantNM_199355.4(ADAMTS18):c.2618G>T (p.Arg873Ile)Inborn genetic diseases [RCV004372058]uncertain significance167730031977300319Human1name
405684748CV3235581single nucleotide variantNM_199355.4(ADAMTS18):c.2797G>C (p.Ala933Pro)Inborn genetic diseases [RCV004372095]uncertain significance167729729377297293Human1name
405656843CV3305429single nucleotide variantNM_199355.4(ADAMTS18):c.1115A>G (p.Gln372Arg)Inborn genetic diseases [RCV004437710]uncertain significance167736220677362206Human1name
405657056CV3305486single nucleotide variantNM_199355.4(ADAMTS18):c.1946A>T (p.Asp649Val)Inborn genetic diseases [RCV004437767]uncertain significance167732595277325952Human1name
407450898CV3422652single nucleotide variantNM_199355.4(ADAMTS18):c.1324T>G (p.Phe442Val)Inborn genetic diseases [RCV004607848]uncertain significance167735607677356076Human1name
407455385CV3422664single nucleotide variantNM_199355.4(ADAMTS18):c.2375G>A (p.Arg792Gln)Inborn genetic diseases [RCV004610292]uncertain significance167732000677320006Human1name
407455431CV3422685single nucleotide variantNM_199355.4(ADAMTS18):c.2482C>G (p.Pro828Ala)Inborn genetic diseases [RCV004610313]uncertain significance167731989977319899Human1name
597655397CV3645219single nucleotide variantNM_199355.4(ADAMTS18):c.2116C>T (p.Pro706Ser)Inborn genetic diseases [RCV004976370]uncertain significance167732238377322383Human1name
597631666CV3645233single nucleotide variantNM_199355.4(ADAMTS18):c.2350G>T (p.Val784Phe)Inborn genetic diseases [RCV004967767]uncertain significance167732003177320031Human1name
597655417CV3645269single nucleotide variantNM_199355.4(ADAMTS18):c.1715G>C (p.Cys572Ser)Inborn genetic diseases [RCV004976374]uncertain significance167733590077335900Human1name
597655307CV3648948single nucleotide variantNM_199355.4(ADAMTS18):c.1739T>G (p.Phe580Cys)Inborn genetic diseases [RCV004976355]uncertain significance167733587677335876Human1name
597631663CV3648996single nucleotide variantNM_199355.4(ADAMTS18):c.1520C>T (p.Pro507Leu)Inborn genetic diseases [RCV004967766]uncertain significance167735382777353827Human1name
597655356CV3649007single nucleotide variantNM_199355.4(ADAMTS18):c.1475G>C (p.Gly492Ala)Inborn genetic diseases [RCV004976363]uncertain significance167735387277353872Human1name
597655380CV3649061single nucleotide variantNM_199355.4(ADAMTS18):c.2077T>A (p.Phe693Ile)Inborn genetic diseases [RCV004976367]uncertain significance167732242277322422Human1name
597830828CV3739486single nucleotide variantNM_199355.4(ADAMTS18):c.1844A>G (p.His615Arg)not provided [RCV005062376]uncertain significance167733577177335771Humanname
597886109CV3787367single nucleotide variantNM_199355.4(ADAMTS18):c.1201C>A (p.Pro401Thr)not provided [RCV005124933]uncertain significance167736212077362120Humanname
597901059CV3796656single nucleotide variantNM_199355.4(ADAMTS18):c.1520C>A (p.Pro507Gln)not provided [RCV005152738]uncertain significance167735382777353827Humanname
597835829CV3828304single nucleotide variantNM_199355.4(ADAMTS18):c.1399G>T (p.Gly467Ter)not provided [RCV005171196]pathogenic167735600177356001Humanname
598179247CV3943666single nucleotide variantNM_199355.4(ADAMTS18):c.2020A>G (p.Thr674Ala)Inborn genetic diseases [RCV005310480]uncertain significance167732587877325878Human1name
598239937CV3943697single nucleotide variantNM_199355.4(ADAMTS18):c.2066A>G (p.Glu689Gly)Inborn genetic diseases [RCV005321305]uncertain significance167732243377322433Human1name
598179454CV3943716single nucleotide variantNM_199355.4(ADAMTS18):c.2420A>C (p.Asp807Ala)Inborn genetic diseases [RCV005310517]uncertain significance167731996177319961Human1name
598179495CV3943727single nucleotide variantNM_199355.4(ADAMTS18):c.1159A>G (p.Ile387Val)Inborn genetic diseases [RCV005310525]uncertain significance167736216277362162Human1name
598179550CV3943738single nucleotide variantNM_199355.4(ADAMTS18):c.1794G>T (p.Trp598Cys)Inborn genetic diseases [RCV005310534]uncertain significance167733582177335821Human1name
15185835CV740356single nucleotide variantNM_199355.4(ADAMTS18):c.2488C>T (p.Arg830Cys)ADAMTS18-related disorder [RCV004753106]|not provided [RCV000908638]likely benign167731989377319893Human1name , alternate_id
15173003CV740359single nucleotide variantNM_199355.4(ADAMTS18):c.1646T>C (p.Val549Ala)not provided [RCV000905781]likely benign167734176877341768Humanname
15197646CV755394single nucleotide variantNM_199355.4(ADAMTS18):c.2954C>G (p.Ala985Gly)ADAMTS18-related disorder [RCV003902900]|not provided [RCV000912031]likely benign167729497577294975Human1name , alternate_id
8621906CV76945single nucleotide variantNM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)Microcornea-myopic chorioretinal atrophy [RCV000056278]pathogenic|uncertain significance167733588477335884Human1name
8621907CV76946single nucleotide variantNM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter)Microcornea-myopic chorioretinal atrophy [RCV000056279]pathogenic167732243477322434Human1name
26921141CV844306single nucleotide variantNM_199355.4(ADAMTS18):c.2977C>T (p.Pro993Ser)not provided [RCV001049328]uncertain significance167729495277294952Humanname
26919142CV844307single nucleotide variantNM_199355.4(ADAMTS18):c.2756C>T (p.Pro919Leu)not provided [RCV001044893]uncertain significance167729733477297334Humanname
26918490CV844308single nucleotide variantNM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)Inborn genetic diseases [RCV002552537]|Microcornea-myopic chorioretinal atrophy [RCV003141961]|Retinal dystrophy [RCV004813584]|Retinitis pigmentosa [RCV001593211]|not provided [RCV001043787]likely benign|uncertain significance167729733877297338Human6name
26888442CV844309single nucleotide variantNM_199355.4(ADAMTS18):c.2558G>C (p.Gly853Ala)not provided [RCV001057431]uncertain significance167730037977300379Humanname
26915666CV844310single nucleotide variantNM_199355.4(ADAMTS18):c.2489G>C (p.Arg830Pro)not provided [RCV001039287]uncertain significance167731989277319892Humanname
26904547CV844311single nucleotide variantNM_199355.4(ADAMTS18):c.2483C>G (p.Pro828Arg)Inborn genetic diseases [RCV005306274]|not provided [RCV001070861]uncertain significance167731989877319898Human1name
26886815CV844312single nucleotide variantNM_199355.4(ADAMTS18):c.2480G>T (p.Arg827Leu)Retinal dystrophy [RCV004813638]|not provided [RCV001055458]uncertain significance167731990177319901Human2name
26921751CV844313single nucleotide variantNM_199355.4(ADAMTS18):c.2425C>A (p.Pro809Thr)not provided [RCV001050675]uncertain significance167731995677319956Humanname
26916375CV844314single nucleotide variantNM_199355.4(ADAMTS18):c.2380C>G (p.Leu794Val)ADAMTS18-related disorder [RCV003906152]|not provided [RCV001040274]likely benign|uncertain significance167732000177320001Human1name , alternate_id
26889145CV844315single nucleotide variantNM_199355.4(ADAMTS18):c.2095G>A (p.Gly699Ser)not provided [RCV001057959]uncertain significance167732240477322404Humanname
26891806CV844316single nucleotide variantNM_199355.4(ADAMTS18):c.2026G>T (p.Val676Leu)Inborn genetic diseases [RCV002553898]|not provided [RCV001060932]uncertain significance167732587277325872Human1name
26919837CV844317single nucleotide variantNM_199355.4(ADAMTS18):c.1985C>G (p.Pro662Arg)Microcornea-myopic chorioretinal atrophy [RCV002505582]|not provided [RCV001046484]uncertain significance167732591377325913Human1name
26901125CV844318single nucleotide variantNM_199355.4(ADAMTS18):c.1916A>G (p.Asn639Ser)Retinal dystrophy [RCV004813703]|not provided [RCV001068300]uncertain significance167732598277325982Human2name
26919490CV844319single nucleotide variantNM_199355.4(ADAMTS18):c.1073A>G (p.Asn358Ser)Inborn genetic diseases [RCV002552585]|not provided [RCV001045643]uncertain significance167736224877362248Human1name
8635915CV91138single nucleotide variantNM_199355.2(ADAMTS18):c.2710C>T (p.Gln904Ter)Malignant melanoma [RCV000071236]not provided167729738077297380Humanname
8635916CV91139single nucleotide variantNM_199355.2(ADAMTS18):c.2530G>A (p.Glu844Lys)Malignant melanoma [RCV000071237]not provided167731985177319851Humanname
8635919CV91142single nucleotide variantNM_199355.2(ADAMTS18):c.2081T>A (p.Phe694Tyr)Malignant melanoma [RCV000071240]not provided167732241877322418Humanname
8635920CV91143single nucleotide variantNM_199355.2(ADAMTS18):c.1912T>A (p.Cys638Ser)Malignant melanoma [RCV000071241]not provided167732598677325986Humanname
8635921CV91144single nucleotide variantNM_199355.2(ADAMTS18):c.1354C>T (p.Pro452Ser)Malignant melanoma [RCV000071242]not provided167735604677356046Humanname
38484355CV927948single nucleotide variantNM_199355.4(ADAMTS18):c.2110G>T (p.Gly704Ter)not provided [RCV001219369]pathogenic167732238977322389Humanname
38489567CV927949single nucleotide variantNM_199355.4(ADAMTS18):c.1640A>T (p.His547Leu)Inborn genetic diseases [RCV003163706]|not provided [RCV001221762]uncertain significance167734177477341774Human1name
38491160CV927950single nucleotide variantNM_199355.4(ADAMTS18):c.1135A>C (p.Asn379His)Inborn genetic diseases [RCV003363183]|not provided [RCV001222644]uncertain significance167736218677362186Human1name
38474076CV937609single nucleotide variantNM_199355.4(ADAMTS18):c.2985G>T (p.Trp995Cys)not provided [RCV001203663]uncertain significance167729494477294944Humanname
38489373CV937610single nucleotide variantNM_199355.4(ADAMTS18):c.2721A>C (p.Gln907His)not provided [RCV001210180]uncertain significance167729736977297369Humanname
38485509CV937611single nucleotide variantNM_199355.4(ADAMTS18):c.2453C>A (p.Thr818Lys)not provided [RCV001208511]uncertain significance167731992877319928Humanname
38471959CV937612single nucleotide variantNM_199355.4(ADAMTS18):c.1810A>G (p.Thr604Ala)not provided [RCV001213915]uncertain significance167733580577335805Humanname
38470225CV937613single nucleotide variantNM_199355.4(ADAMTS18):c.1574T>A (p.Phe525Tyr)not provided [RCV001202539]uncertain significance167735377377353773Humanname
38474556CV937614single nucleotide variantNM_199355.4(ADAMTS18):c.1071C>G (p.Ile357Met)not provided [RCV001203867]uncertain significance167736225077362250Humanname
38483054CV937615single nucleotide variantNM_199355.4(ADAMTS18):c.1039C>T (p.Leu347Phe)not provided [RCV001207499]uncertain significance167736381977363819Humanname
38475415CV949564single nucleotide variantNM_199355.4(ADAMTS18):c.2939C>A (p.Pro980His)not provided [RCV001232627]uncertain significance167729499077294990Humanname
38489203CV949565single nucleotide variantNM_199355.4(ADAMTS18):c.2660T>C (p.Val887Ala)not provided [RCV001238315]uncertain significance167730027777300277Humanname
38475745CV949566single nucleotide variantNM_199355.4(ADAMTS18):c.2592G>A (p.Met864Ile)not provided [RCV001232764]uncertain significance167730034577300345Humanname
38469365CV949567single nucleotide variantNM_199355.4(ADAMTS18):c.2468G>A (p.Arg823His)not provided [RCV001230762]uncertain significance167731991377319913Humanname
38469333CV949568single nucleotide variantNM_199355.4(ADAMTS18):c.2412G>C (p.Trp804Cys)not provided [RCV001230758]uncertain significance167731996977319969Humanname
38496566CV949569single nucleotide variantNM_199355.4(ADAMTS18):c.2311C>G (p.Pro771Ala)not provided [RCV001226476]uncertain significance167732007077320070Humanname
38495083CV949570single nucleotide variantNM_199355.4(ADAMTS18):c.1897C>T (p.Arg633Cys)Inborn genetic diseases [RCV002563080]|not provided [RCV001225490]uncertain significance167732600177326001Human1name
38473193CV949571single nucleotide variantNM_199355.4(ADAMTS18):c.1552G>C (p.Asp518His)not provided [RCV001231711]uncertain significance167735379577353795Humanname
38476395CV949572single nucleotide variantNM_199355.4(ADAMTS18):c.1211C>G (p.Thr404Ser)not provided [RCV001233056]uncertain significance167736211077362110Humanname
38491133CV957876single nucleotide variantNM_199355.4(ADAMTS18):c.2712A>C (p.Gln904His)not provided [RCV001239262]uncertain significance167729737877297378Humanname
38500151CV957877single nucleotide variantNM_199355.4(ADAMTS18):c.1757G>A (p.Arg586Gln)not provided [RCV001245611]uncertain significance167733585877335858Humanname
38460147CV957878single nucleotide variantNM_199355.4(ADAMTS18):c.1332G>A (p.Met444Ile)not provided [RCV001246693]uncertain significance167735606877356068Humanname
127278006CV1082429single nucleotide variantNM_199355.4(ADAMTS18):c.1979G>A (p.Ser660Asn)ADAMTS18-related disorder [RCV003963293]|not provided [RCV001408212]likely benign167732591977325919Human1alternate_id
127251471CV1104221single nucleotide variantNM_199355.4(ADAMTS18):c.3262C>A (p.Leu1088Met)ADAMTS18-related disorder [RCV003965801]|Inborn genetic diseases [RCV004980466]|not provided [RCV001425604]likely benign|uncertain significance167729140677291406Human2alternate_id
127327911CV1125625single nucleotide variantNM_199355.4(ADAMTS18):c.3290G>A (p.Arg1097His)ADAMTS18-related disorder [RCV003946220]|not provided [RCV001469322]likely benign167729137877291378Human1alternate_id
127308148CV1125633single nucleotide variantNM_199355.4(ADAMTS18):c.2618G>C (p.Arg873Thr)ADAMTS18-related disorder [RCV004753333]|Inborn genetic diseases [RCV004980515]|not provided [RCV001455992]likely benign|uncertain significance167730031977300319Human2alternate_id
127297142CV1157849single nucleotide variantNM_199355.4(ADAMTS18):c.2480G>A (p.Arg827His)ADAMTS18-related disorder [RCV003940904]|Inborn genetic diseases [RCV002568020]|not provided [RCV001512769]benign|likely benign167731990177319901Human2alternate_id
15118768CV715083single nucleotide variantNM_199355.4(ADAMTS18):c.2868C>G (p.Ile956Met)ADAMTS18-related disorder [RCV003916076]|not provided [RCV000962435]benign|likely benign167729506177295061Human1alternate_id
15140446CV740354single nucleotide variantNM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)ADAMTS18-related disorder [RCV003910717]|Microcornea-myopic chorioretinal atrophy [RCV003141892]|Retinitis pigmentosa [RCV001593127]|not provided [RCV000899321]benign|likely benign|uncertain significance167729310877293108Human3alternate_id
15154426CV755393single nucleotide variantNM_199355.4(ADAMTS18):c.3628G>A (p.Gly1210Arg)ADAMTS18-related disorder [RCV004753117]|not provided [RCV000924257]likely benign167728399477283994Human1alternate_id