{"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:3467,10,HGNC:3467,6,3]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3467","source":"HGNC:3467|estrogen receptor 1","targets":["1024748|NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1033002|NM_182961.4(SYNE1):c.26154-2590C>G|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1042408|NM_182961.4(SYNE1):c.26154-10C>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1047425|NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1049889|NM_000125.4(ESR1):c.296C>A (p.Pro99Gln)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1057430|NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)|Deletion|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","1077449|NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1117125|NM_000125.4(ESR1):c.1705G>A (p.Ala569Thr)|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1150698|NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1176214|NM_000125.4(ESR1):c.1638C>T (p.Ala546=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1180138|NM_000125.4(ESR1):c.761-163T>C|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1180193|NM_000125.4(ESR1):c.805C>T (p.Arg269Cys)|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1180284|NM_000125.4(ESR1):c.261G>C (p.Ala87=)|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1181618|NM_000125.4(ESR1):c.643+63C>T|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1182727|NM_182961.4(SYNE1):c.26154-249G>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1185886|NM_000125.4(ESR1):c.-170C>T|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1186993|NM_000125.4(ESR1):c.644-301del|Deletion|Likely benign|ESR1|criteria provided, single submitter|6","1188029|NM_000125.4(ESR1):c.453-200G>T|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1190334|NM_000125.4(ESR1):c.644-166G>A|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1190926|NM_000125.4(ESR1):c.452+270C>G|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1191482|NM_000125.4(ESR1):c.760+85G>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1193136|NM_000125.4(ESR1):c.896A>G (p.Lys299Arg)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","1194976|NM_000125.4(ESR1):c.1096+15C>T|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1196773|NM_000125.4(ESR1):c.760+184G>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1199647|NM_000125.4(ESR1):c.*296A>G|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1207786|NM_000125.4(ESR1):c.1235+255CA[3]|Microsatellite|Likely benign|ESR1|criteria provided, single submitter|6","1208479|NM_000125.4(ESR1):c.761-210G>C|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1215489|NM_000125.4(ESR1):c.1369+215A>G|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1215571|NM_000125.4(ESR1):c.1554-148C>T|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1216137|NM_182961.4(SYNE1):c.*281G>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1217863|NM_000125.4(ESR1):c.1235+103A>G|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1219321|NM_000125.4(ESR1):c.643+104A>G|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1219496|NM_000125.4(ESR1):c.1369+135C>G|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1219776|NM_000125.4(ESR1):c.1554-261T>C|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1229403|NM_000125.4(ESR1):c.1097-273A>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1230656|NM_000125.4(ESR1):c.1235+224AC[17]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1231364|NM_000125.4(ESR1):c.1235+224AC[19]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1231855|NM_000125.4(ESR1):c.452+247G>T|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1232242|NM_000125.4(ESR1):c.1235+259CT[11]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1235666|NM_000125.4(ESR1):c.452+47GGAG[7]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1236629|NM_000125.4(ESR1):c.1554-341G>A|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1238986|NM_000125.4(ESR1):c.1235+259CT[9]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1239923|NM_000125.4(ESR1):c.1096+16G>A|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1239925|NM_000125.4(ESR1):c.1235+224AC[20]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1240779|NM_000125.4(ESR1):c.644-326T>C|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1241299|NM_000125.4(ESR1):c.1369+161A>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1248080|NM_000125.4(ESR1):c.1369+66A>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1249597|NM_000125.4(ESR1):c.1235+175G>A|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1250979|NM_000125.4(ESR1):c.30T>C (p.Ser10=)|single nucleotide variant|Benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1251820|NM_000125.4(ESR1):c.1235+224AC[16]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","1253175|NM_000125.4(ESR1):c.761-17dup|Duplication|Benign|ESR1|criteria provided, single submitter|6","1254013|NM_000125.4(ESR1):c.1097-95A>G|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","1258285|NM_000125.4(ESR1):c.452+89C>T|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1263746|NM_000125.4(ESR1):c.1782G>A (p.Thr594=)|single nucleotide variant|Benign/Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1267111|NM_000125.4(ESR1):c.1235+55T>C|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1268561|NM_000125.4(ESR1):c.1369+123G>A|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1268885|NM_001122740.2(ESR1):c.-73A>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1274490|NM_000125.4(ESR1):c.1369+52G>T|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1277558|NM_000125.4(ESR1):c.1097-131del|Deletion|Benign|ESR1|criteria provided, single submitter|6","1287125|NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA|Insertion|Benign|ESR1|criteria provided, single submitter|6","1287180|NM_000125.4(ESR1):c.1236-128T>C|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1290579|NM_001122740.2(ESR1):c.-84C>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1292687|NM_000125.4(ESR1):c.760+101T>C|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1292722|NM_000125.4(ESR1):c.1236-112A>G|single nucleotide variant|Benign|ESR1|criteria provided, single submitter|6","1293199|NM_000125.4(ESR1):c.1235+224AC[18]|Microsatellite|Benign|ESR1|criteria provided, single submitter|6","130435|NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)|single nucleotide variant|Benign|ESR1|criteria provided, multiple submitters, no conflicts|6","130436|NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)|single nucleotide variant|Benign|ESR1|criteria provided, multiple submitters, no conflicts|6","1415617|NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1425327|NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","1440876|NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1471881|NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","1513254|NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)|Microsatellite|Uncertain significance|ESR1|criteria provided, single submitter|6","1553663|NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","16590|NM_000125.4(ESR1):c.1339_1340delinsGC (p.Cys447Ala)|Indel|Pathogenic|ESR1|no assertion criteria provided|6","16592|NM_000125.4(ESR1):c.469C>T (p.Arg157Ter)|single nucleotide variant|Pathogenic|ESR1|no assertion criteria provided|6","16593|NM_000125.4(ESR1):c.1091T>A (p.Val364Glu)|single nucleotide variant|Uncertain significance|ESR1|no assertion criteria provided|6","16594|NM_000125.4(ESR1):c.453-397T>C|single nucleotide variant|risk factor|ESR1|no assertion criteria provided|6","1684076|NM_000125.4(ESR1):c.1235+224AC[22]|Microsatellite|Likely benign|ESR1|criteria provided, single submitter|6","1698054|NM_000125.4(ESR1):c.1095A>G (p.Pro365=)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1807197|NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","1965519|NM_182961.4(SYNE1):c.26154-16T>A|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","2057948|NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","208354|NM_000125.4(ESR1):c.908A>G (p.Lys303Arg)|single nucleotide variant|risk factor|ESR1|no assertion criteria provided|6","2178485|NM_182961.4(SYNE1):c.26154-9T>C|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","2238852|NM_000125.4(ESR1):c.572A>G (p.Tyr191Cys)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2323292|NM_000125.4(ESR1):c.296C>T (p.Pro99Leu)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2342726|NM_000125.4(ESR1):c.269G>A (p.Gly90Asp)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2436635|NM_182961.4(SYNE1):c.26192C>T (p.Pro8731Leu)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2436645|NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","2492794|NM_000125.4(ESR1):c.1709C>G (p.Thr570Ser)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2571953|NM_000125.4(ESR1):c.29C>T (p.Ser10Phe)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2602795|NM_000125.4(ESR1):c.720C>T (p.Cys240=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","2605126|NM_000125.4(ESR1):c.290T>C (p.Phe97Ser)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, single submitter|6","2656999|NM_000125.4(ESR1):c.115C>T (p.Leu39=)|single nucleotide variant|Likely benign|ESR1|criteria provided, single submitter|6","2657000|NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)|single nucleotide variant|Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","282665|NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|ESR1|criteria provided, conflicting classifications|6","283646|NM_182961.4(SYNE1):c.26355C>T (p.His8785=)|single nucleotide variant|Conflicting classifications of pathogenicity|ESR1|criteria provided, conflicting classifications|6","284514|NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6","285052|NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)|single nucleotide variant|Benign/Likely benign|ESR1|criteria provided, multiple submitters, no conflicts|6","288507|NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)|single nucleotide variant|Uncertain significance|ESR1|criteria provided, multiple submitters, no conflicts|6"]}]}