{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:12373,10,HGNC:12373,189,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:12373","source":"HGNC:12373|thyroid stimulating hormone receptor","targets":["1029802|NM_000369.5(TSHR):c.2282A&gt;C (p.Gln761Pro)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1049022|NM_000369.5(TSHR):c.1954C&gt;G (p.Pro652Ala)|single nucleotide variant|Uncertain significance|TSHR|no assertion criteria provided|14","1050149|NM_000369.5(TSHR):c.1906T&gt;G (p.Cys636Gly)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1050267|NM_000369.5(TSHR):c.1462T&gt;C (p.Trp488Arg)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, multiple submitters, no conflicts|14","1202702|NM_000369.5(TSHR):c.1997T&gt;C (p.Phe666Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1204435|NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)|Deletion|Pathogenic/Likely pathogenic|TSHR|criteria provided, multiple submitters, no conflicts|14","1239694|NM_000369.5(TSHR):c.468-69C&gt;T|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","1250610|NM_000369.5(TSHR):c.545+269G&gt;A|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","1276401|NM_000369.5(TSHR):c.393-134G&gt;T|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","1277985|NM_000369.5(TSHR):c.171-80T&gt;A|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","1280573|NM_000369.5(TSHR):c.546-175A&gt;G|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","1283819|NM_000369.5(TSHR):c.392+245A&gt;G|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","1284491|NM_000369.5(TSHR):c.692+163A&gt;G|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","1289534|NM_000369.5(TSHR):c.243-158T&gt;C|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","1303168|NM_000369.5(TSHR):c.1574T&gt;C (p.Phe525Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","1305715|NM_000369.5(TSHR):c.692+209C&gt;T|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1307093|NM_000369.5(TSHR):c.1745A&gt;T (p.Tyr582Phe)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1310971|NM_000369.5(TSHR):c.1301T&gt;C (p.Phe434Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1312597|NM_000369.5(TSHR):c.1715T&gt;G (p.Met572Arg)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","1315403|NM_000369.5(TSHR):c.908A&gt;T (p.Glu303Val)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","135391|NM_000369.5(TSHR):c.145A&gt;G (p.Ser49Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","135392|NM_000369.5(TSHR):c.154C&gt;A (p.Pro52Thr)|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","135393|NM_000369.5(TSHR):c.1928A&gt;G (p.Tyr643Cys)|single nucleotide variant|not provided|TSHR|no classification provided|14","135395|NM_000369.5(TSHR):c.1721C&gt;G (p.Thr574Ser)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","135396|NM_000369.5(TSHR):c.2232C&gt;G (p.Asn744Lys)|single nucleotide variant|Benign/Likely benign|TSHR|criteria provided, multiple submitters, no conflicts|14","135397|NM_000369.5(TSHR):c.1033G&gt;A (p.Asp345Asn)|single nucleotide variant|not provided|TSHR|no classification provided|14","135398|NM_000369.5(TSHR):c.1270G&gt;A (p.Val424Ile)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","135399|NM_000369.5(TSHR):c.2161G&gt;T (p.Val721Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","135400|NM_000369.5(TSHR):c.2181G&gt;C (p.Glu727Asp)|single nucleotide variant|Benign/Likely benign|TSHR|criteria provided, multiple submitters, no conflicts|14","135401|NM_000369.5(TSHR):c.929G&gt;A (p.Arg310His)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","135402|NM_000369.5(TSHR):c.697G&gt;A (p.Val233Met)|single nucleotide variant|not provided|TSHR|no classification provided|14","135404|NM_000369.5(TSHR):c.692+154_692+156delinsTTT|Indel|not provided|TSHR|no classification provided|14","1687384|NM_000369.5(TSHR):c.1777del (p.Ala593fs)|Deletion|Likely pathogenic|TSHR|criteria provided, single submitter|14","1694726|NM_000369.5(TSHR):c.1931C&gt;T (p.Ala644Val)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","189249|NM_000369.5(TSHR):c.545+2_545+3del|Microsatellite|Likely pathogenic|TSHR|criteria provided, multiple submitters, no conflicts|14","208788|NM_000369.5(TSHR):c.1342G&gt;A (p.Val448Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2136258|NM_000369.5(TSHR):c.1169G&gt;T (p.Cys390Phe)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","218440|NM_000369.5(TSHR):c.881+3A&gt;G|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2230571|NM_000369.5(TSHR):c.775A&gt;T (p.Thr259Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2237467|NM_000369.5(TSHR):c.2170G&gt;T (p.Val724Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","225505|NM_000369.5(TSHR):c.1349G&gt;A (p.Arg450His)|single nucleotide variant|Pathogenic/Likely pathogenic|TSHR|criteria provided, multiple submitters, no conflicts|14","225506|NM_000369.5(TSHR):c.733G&gt;A (p.Gly245Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2257173|NM_000369.5(TSHR):c.2225T&gt;C (p.Ile742Thr)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2264795|NM_000369.5(TSHR):c.2272G&gt;A (p.Glu758Lys)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","2283090|NM_000369.5(TSHR):c.468-3C&gt;A|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2299571|NM_000369.5(TSHR):c.1214T&gt;C (p.Phe405Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2308150|NM_000369.5(TSHR):c.1547C&gt;A (p.Thr516Asn)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2328829|NM_000369.5(TSHR):c.1547C&gt;G (p.Thr516Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2352513|NM_000369.5(TSHR):c.1592G&gt;A (p.Arg531Gln)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2386954|NM_000369.5(TSHR):c.820C&gt;T (p.Arg274Trp)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2387997|NM_000369.5(TSHR):c.1115A&gt;C (p.Asn372Thr)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2444338|NM_000369.5(TSHR):c.1515C&gt;A (p.Ser505Arg)|single nucleotide variant|Pathogenic|TSHR|criteria provided, single submitter|14","2445240|NM_000369.5(TSHR):c.2279T&gt;C (p.Met760Thr)|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","2445311|NM_000369.5(TSHR):c.332C&gt;T (p.Thr111Ile)|single nucleotide variant|Benign|TSHR|criteria provided, single submitter|14","2445351|NM_000369.5(TSHR):c.491T&gt;A (p.Met164Lys)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2445352|NM_000369.5(TSHR):c.1820C&gt;G (p.Thr607Arg)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2445353|NM_000369.5(TSHR):c.289T&gt;G (p.Phe97Val)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2445363|NM_000369.5(TSHR):c.2098A&gt;G (p.Lys700Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2445381|NM_000369.5(TSHR):c.494C&gt;T (p.Thr165Met)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2474893|NM_000369.5(TSHR):c.776C&gt;A (p.Thr259Asn)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2506189|NM_000369.5(TSHR):c.1591C&gt;T (p.Arg531Trp)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","2534923|NM_000369.5(TSHR):c.983A&gt;T (p.Glu328Val)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2544142|NM_000369.5(TSHR):c.523C&gt;G (p.Leu175Val)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","255951|NM_000369.5(TSHR):c.1377G&gt;A (p.Ala459=)|single nucleotide variant|Benign/Likely benign|TSHR|criteria provided, multiple submitters, no conflicts|14","255953|NM_000369.5(TSHR):c.561T&gt;C (p.Asn187=)|single nucleotide variant|Benign|TSHR|criteria provided, multiple submitters, no conflicts|14","2571680|NM_000369.5(TSHR):c.1264T&gt;C (p.Trp422Arg)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2572312|NM_000369.5(TSHR):c.1207G&gt;A (p.Asp403Asn)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2572589|NM_000369.5(TSHR):c.1891T&gt;G (p.Phe631Val)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2573402|NM_000369.5(TSHR):c.1897G&gt;A (p.Asp633Asn)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2574466|NM_000369.5(TSHR):c.1789G&gt;A (p.Val597Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2576726|NM_000369.5(TSHR):c.1315CTC[1] (p.Leu440del)|Microsatellite|Uncertain significance|TSHR|criteria provided, single submitter|14","2599810|NM_000369.5(TSHR):c.2119C&gt;T (p.Arg707Trp)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2627995|NM_000369.5(TSHR):c.263C&gt;T (p.Thr88Ile)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2632279|NM_000369.5(TSHR):c.406_407del (p.Thr136fs)|Microsatellite|Likely pathogenic|TSHR|criteria provided, single submitter|14","2634929|NM_000369.5(TSHR):c.1657G&gt;T (p.Ala553Ser)|single nucleotide variant|Uncertain significance|TSHR|no assertion criteria provided|14","2636082|NM_000369.5(TSHR):c.2234C&gt;G (p.Ser745Cys)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, multiple submitters, no conflicts|14","2644429|NM_000369.5(TSHR):c.170+35739C&gt;T|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2644430|NM_000369.5(TSHR):c.692+118G&gt;A|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2644431|NM_000369.5(TSHR):c.1524G&gt;A (p.Ser508=)|single nucleotide variant|Likely benign|TSHR|criteria provided, multiple submitters, no conflicts|14","2663670|NM_000369.5(TSHR):c.1612G&gt;T (p.Ala538Ser)|single nucleotide variant|Uncertain significance|TSHR|criteria provided, single submitter|14","2663912|NM_000369.5(TSHR):c.1966G&gt;A (p.Val656Ile)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2664771|NM_000369.5(TSHR):c.1839C&gt;A (p.Tyr613Ter)|single nucleotide variant|Pathogenic|TSHR|criteria provided, single submitter|14","2682178|NM_000369.5(TSHR):c.1582C&gt;T (p.Arg528Cys)|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2690285|NM_000369.5(TSHR):c.1803T&gt;A (p.Tyr601Ter)|single nucleotide variant|Conflicting classifications of pathogenicity|TSHR|criteria provided, conflicting classifications|14","2690769|NM_000369.5(TSHR):c.170+1G&gt;C|single nucleotide variant|Likely pathogenic|TSHR|criteria provided, single submitter|14","2694769|NM_000369.5(TSHR):c.468-15C&gt;T|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2696231|NM_000369.5(TSHR):c.1299C&gt;A (p.Val433=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2696377|NM_000369.5(TSHR):c.771C&gt;G (p.Thr257=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2696500|NM_000369.5(TSHR):c.699_700del (p.Gln235fs)|Microsatellite|Pathogenic|TSHR|criteria provided, single submitter|14","2697944|NM_000369.5(TSHR):c.545+10A&gt;G|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2699268|NM_000369.5(TSHR):c.1543del (p.Ile515fs)|Deletion|Pathogenic|TSHR|criteria provided, single submitter|14","2699689|NM_000369.5(TSHR):c.614+68T&gt;C|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2699866|NM_000369.5(TSHR):c.972G&gt;A (p.Gln324=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2701523|NM_000369.5(TSHR):c.1560G&gt;A (p.Trp520Ter)|single nucleotide variant|Pathogenic|TSHR|criteria provided, single submitter|14","2702834|NM_000369.5(TSHR):c.2274G&gt;A (p.Glu758=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2702935|NM_000369.5(TSHR):c.546-19_546-18del|Deletion|Likely benign|TSHR|criteria provided, single submitter|14","2703112|NM_000369.5(TSHR):c.546-7G&gt;A|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2707260|NM_000369.5(TSHR):c.2079C&gt;T (p.Leu693=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2707897|NM_000369.5(TSHR):c.552G&gt;T (p.Leu184=)|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14","2709002|NM_000369.5(TSHR):c.393-14T&gt;C|single nucleotide variant|Likely benign|TSHR|criteria provided, single submitter|14"]}]}