{"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:20001,10,HGNC:20001,77,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:20001","source":"HGNC:20001|proprotein convertase subtilisin/kexin type 9","targets":["1015123|NM_174936.4(PCSK9):c.653G>C (p.Arg218Thr)|single nucleotide variant|Likely pathogenic|PCSK9|criteria provided, single submitter|1","1018970|NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1035538|NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter)|single nucleotide variant|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1046553|NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1052974|NM_174936.4(PCSK9):c.524-3A>C|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1055084|NM_174936.4(PCSK9):c.207+6G>C|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1057244|NM_174936.4(PCSK9):c.697G>T (p.Val233Leu)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1077314|NM_174936.4(PCSK9):c.348T>C (p.His116=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1083253|NM_174936.4(PCSK9):c.1864-5G>C|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1089790|NM_174936.4(PCSK9):c.1116C>T (p.Ser372=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1103602|NM_174936.4(PCSK9):c.762C>T (p.Asn254=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1104017|NM_174936.4(PCSK9):c.1011G>T (p.Gly337=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1107385|NM_174936.4(PCSK9):c.96G>A (p.Glu32=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1115734|NM_174936.4(PCSK9):c.1686C>T (p.Cys562=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1119136|NM_174936.4(PCSK9):c.156G>C (p.Leu52=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1120257|NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg)|single nucleotide variant|Likely pathogenic|PCSK9|criteria provided, single submitter|1","1133531|NM_174936.4(PCSK9):c.1023C>T (p.Ala341=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1137302|NM_174936.4(PCSK9):c.453C>T (p.Ala151=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1139726|NM_174936.4(PCSK9):c.147G>A (p.Glu49=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1141576|NM_174936.4(PCSK9):c.1422C>T (p.Val474=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1141584|NM_174936.4(PCSK9):c.1764C>T (p.Cys588=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1145011|NM_174936.4(PCSK9):c.561C>A (p.Thr187=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1156974|NM_174936.4(PCSK9):c.1683C>G (p.Gly561=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1157784|NM_174936.4(PCSK9):c.1809C>T (p.Ala603=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1170998|NM_174936.4(PCSK9):c.1354G>C (p.Gly452Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171041|NM_174936.4(PCSK9):c.1323G>A (p.Val441=)|single nucleotide variant|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1171076|NM_174936.4(PCSK9):c.870G>A (p.Ala290=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171159|NM_174936.4(PCSK9):c.554_558del (p.Leu185fs)|Deletion|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1171232|NM_174936.4(PCSK9):c.844C>A (p.Pro282Thr)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1171353|NM_174936.4(PCSK9):c.399+1G>C|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171480|NM_174936.4(PCSK9):c.1335C>T (p.Pro445=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171481|NM_174936.4(PCSK9):c.1504-5C>T|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1171534|NM_174936.4(PCSK9):c.997-2A>T|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171542|NM_174936.4(PCSK9):c.1629G>T (p.Glu543Asp)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1171623|NM_174936.4(PCSK9):c.1441G>A (p.Glu481Lys)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1171626|NM_174936.4(PCSK9):c.268C>T (p.Gln90Ter)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1171705|NM_174936.4(PCSK9):c.84C>T (p.Ala28=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1171747|NM_174936.4(PCSK9):c.1029C>T (p.Asp343=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1171752|NM_174936.4(PCSK9):c.959A>G (p.Asp320Gly)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1171850|NM_174936.4(PCSK9):c.1041C>A (p.Thr347=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1171853|NM_174936.4(PCSK9):c.521C>T (p.Pro174Leu)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1171982|NM_174936.4(PCSK9):c.405G>A (p.Leu135=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172001|NM_174936.4(PCSK9):c.997-14C>T|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1172035|NM_174936.4(PCSK9):c.105C>T (p.Asp35=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172036|NM_174936.4(PCSK9):c.311G>A (p.Arg104His)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172037|NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172038|NM_174936.4(PCSK9):c.645C>T (p.Arg215=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172039|NM_174936.4(PCSK9):c.658-2A>C|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172040|NM_174936.4(PCSK9):c.660_667del (p.Ala220_Ser221insTer)|Deletion|Likely benign|PCSK9|criteria provided, single submitter|1","1172041|NM_174936.4(PCSK9):c.1035G>A (p.Pro345=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172058|NM_174936.4(PCSK9):c.2068G>A (p.Glu690Lys)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1172064|NM_174936.4(PCSK9):c.808T>A (p.Phe270Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172180|NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172189|NM_174936.4(PCSK9):c.461T>C (p.Ile154Thr)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1172285|NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172363|NM_174936.4(PCSK9):c.1095G>A (p.Gly365=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1172364|NM_174936.4(PCSK9):c.1696T>C (p.Trp566Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1172367|NM_174936.4(PCSK9):c.1989_1990delinsCT (p.Thr664Ser)|Indel|Uncertain significance|PCSK9|criteria provided, single submitter|1","1172421|NM_174936.4(PCSK9):c.1538del (p.Asn513fs)|Deletion|Likely benign|PCSK9|criteria provided, single submitter|1","1172467|NM_174936.4(PCSK9):c.760A>T (p.Asn254Tyr)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1192251|NM_174936.4(PCSK9):c.240G>A (p.Val80=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1319803|NM_174936.4(PCSK9):c.1054G>T (p.Gly352Trp)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1324866|NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1331791|NM_174936.4(PCSK9):c.1187C>T (p.Ala396Val)|single nucleotide variant|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1331852|NM_174936.4(PCSK9):c.905A>G (p.Gln302Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1331857|NM_174936.4(PCSK9):c.1638G>A (p.Met546Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1331957|NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1331995|NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1332002|NM_174936.4(PCSK9):c.1868C>T (p.Thr623Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332008|NM_174936.4(PCSK9):c.1119C>G (p.Ser373Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332018|NM_174936.4(PCSK9):c.653G>T (p.Arg218Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332071|NM_174936.4(PCSK9):c.855G>A (p.Val285=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1332146|NM_174936.4(PCSK9):c.524-2A>T|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332164|NM_174936.4(PCSK9):c.637G>A (p.Gly213Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1332214|NM_174936.4(PCSK9):c.1467C>G (p.Phe489Leu)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332259|NM_174936.4(PCSK9):c.772A>T (p.Lys258Ter)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1332261|NM_174936.4(PCSK9):c.1026_1028delinsGGG (p.Asp343Gly)|Indel|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332338|NM_174936.4(PCSK9):c.440C>T (p.Ser147Phe)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1332412|NM_174936.4(PCSK9):c.993C>G (p.Pro331=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1332452|NM_174936.4(PCSK9):c.208-6G>A|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1332624|NM_174936.4(PCSK9):c.1031A>G (p.Gln344Arg)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1339302|NM_174936.4(PCSK9):c.1436C>T (p.Pro479Leu)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1339662|NM_174936.4(PCSK9):c.812T>C (p.Ile271Thr)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1344496|NC_000001.11:g.55030366T>C|single nucleotide variant|association|PCSK9|no assertion criteria provided|1","1346212|NM_174936.4(PCSK9):c.799+5del|Deletion|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1346319|NM_174936.4(PCSK9):c.203C>T (p.Ala68Val)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1425305|NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1428707|NM_174936.4(PCSK9):c.1115C>T (p.Ser372Phe)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1443411|NM_174936.4(PCSK9):c.589G>A (p.Glu197Lys)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, multiple submitters, no conflicts|1","1455601|NM_174936.4(PCSK9):c.717C>T (p.Ala239=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1457291|NM_174936.4(PCSK9):c.351C>T (p.Gly117=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1468175|NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1486316|NM_174936.4(PCSK9):c.2066A>T (p.Gln689Leu)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1520880|NM_174936.4(PCSK9):c.1004C>T (p.Thr335Ile)|single nucleotide variant|Uncertain significance|PCSK9|criteria provided, single submitter|1","1524079|NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|PCSK9|criteria provided, conflicting classifications|1","1532678|NM_174936.4(PCSK9):c.208-13T>G|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1539069|NM_174936.4(PCSK9):c.1355-16C>G|single nucleotide variant|Benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1544761|NM_174936.4(PCSK9):c.1158A>C (p.Ser386=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, single submitter|1","1550508|NM_174936.4(PCSK9):c.1863+20C>T|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1","1551504|NM_174936.4(PCSK9):c.186C>T (p.Ala62=)|single nucleotide variant|Likely benign|PCSK9|criteria provided, multiple submitters, no conflicts|1"]}]}