{"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:620,10,HGNC:620,71,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:620","source":"HGNC:620|amyloid beta precursor protein","targets":["1005334|NM_000484.4(APP):c.302G>A (p.Gly101Asp)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1005544|NM_000484.4(APP):c.1034-6C>G|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1021854|NM_000484.4(APP):c.1684G>A (p.Val562Ile)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1026799|NM_000484.4(APP):c.1916C>A (p.Pro639His)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1028288|NM_000484.4(APP):c.917G>A (p.Arg306His)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1035036|NM_000484.4(APP):c.1123G>A (p.Val375Ile)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1038313|NM_000484.4(APP):c.46C>T (p.Arg16Trp)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1082481|NM_000484.4(APP):c.186C>T (p.Cys62=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1102353|NM_000484.4(APP):c.44C>T (p.Ala15Val)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1110217|NM_000484.4(APP):c.1909+9C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1113753|NM_000484.4(APP):c.1722T>C (p.Asp574=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1117397|NC_000021.9:g.26171301C>T|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1121997|NM_000484.4(APP):c.1827G>C (p.Val609=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1130889|NM_000484.4(APP):c.1137C>G (p.Leu379=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1132106|NM_000484.4(APP):c.2212-9_2212-6del|Deletion|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1156848|NC_000021.9:g.26171246G>A|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1158416|NM_000484.4(APP):c.735C>T (p.Asp245=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1159952|NM_000484.4(APP):c.462C>G (p.Ala154=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1170744|NM_000484.4(APP):c.663-7T>C|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1177937|NM_000484.4(APP):c.58-27857A>G|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1178502|NM_000484.4(APP):c.1588-167del|Deletion|Benign|APP|criteria provided, single submitter|21","1178906|NM_000484.4(APP):c.1588-269del|Deletion|Benign|APP|criteria provided, single submitter|21","1180390|NM_000484.4(APP):c.1687+244A>C|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1183631|NM_000484.4(APP):c.58-27864T>C|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1189588|NM_000484.4(APP):c.1299+229C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1190775|NM_000484.4(APP):c.2212-58T>G|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1202533|NM_000484.4(APP):c.1963+96A>T|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1205136|NM_000484.4(APP):c.1034-107G>A|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1206618|NM_000484.4(APP):c.1910-198G>C|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1214709|NM_000484.4(APP):c.663-238A>G|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1219521|NM_000484.4(APP):c.58-86T>G|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1221397|NM_000484.4(APP):c.1910-160T>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1223250|NM_000484.4(APP):c.663-110T>C|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1223999|NM_000484.4(APP):c.1688-119C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1225201|NM_000484.4(APP):c.2212-238G>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1228014|NM_000484.4(APP):c.662+185G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1229347|NM_000484.4(APP):c.1587+79C>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1231596|NM_000484.4(APP):c.1090+194=|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1233067|NM_000484.4(APP):c.1459-166A>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1233515|NM_000484.4(APP):c.356-195C>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1233599|NM_000484.4(APP):c.1225-31T>C|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1234970|NM_000484.4(APP):c.58-27773GTTT[9]|Microsatellite|Benign|APP|criteria provided, single submitter|21","1237375|NM_000484.4(APP):c.1964-264A>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1238118|NM_000484.4(APP):c.1588-97C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1238808|NM_000484.4(APP):c.2065-179del|Deletion|Benign|APP|criteria provided, single submitter|21","1239619|NM_000484.4(APP):c.2212-112G>A|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1241577|NM_001136131.3(APP):c.-49+60del|Deletion|Benign|APP|criteria provided, single submitter|21","1244643|NM_000484.4(APP):c.2212-136G>A|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1244797|NM_000484.4(APP):c.1225-263G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1246394|NM_000484.4(APP):c.468+51C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1249455|NM_000484.4(APP):c.468+229G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1249693|NM_000484.4(APP):c.1687+45C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1250428|NM_000484.4(APP):c.1687+94A>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1255359|NM_000484.4(APP):c.1588-275C>T|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1256563|NM_000484.4(APP):c.*2C>T|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1256564|NM_000484.4(APP):c.1138G>A (p.Glu380Lys)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1258833|NM_000484.4(APP):c.355+196C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1260572|NM_000484.4(APP):c.58-28119G>C|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1264878|NM_000484.4(APP):c.58-27773GTTT[8]|Microsatellite|Benign|APP|criteria provided, single submitter|21","1267631|NM_000484.4(APP):c.1588-245del|Deletion|Benign|APP|criteria provided, single submitter|21","1269107|NM_000484.4(APP):c.1090+266A>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1269837|NM_000484.4(APP):c.866-196C>G|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1270097|NM_000484.4(APP):c.2212-216C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1270785|NM_000484.4(APP):c.1587+23T>C|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1272547|NM_000484.4(APP):c.58-27859T>C|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1278138|NM_000484.4(APP):c.865+126G>T|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1278640|NM_000484.4(APP):c.1225-119A>C|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1282173|NM_000484.4(APP):c.469-38T>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1288012|NM_000484.4(APP):c.1910-217G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1290089|NM_000484.4(APP):c.1588-184del|Deletion|Benign|APP|criteria provided, single submitter|21","1292107|NM_000484.4(APP):c.1687+148A>T|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1292634|NM_000484.4(APP):c.1091-227A>G|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1292636|NM_000484.4(APP):c.1225-106T>C|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1292891|NM_000484.4(APP):c.469-52C>A|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1292892|NM_000484.4(APP):c.469-200_469-199insTT|Insertion|Benign|APP|criteria provided, single submitter|21","1292893|NM_000484.4(APP):c.2212-197G>C|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1292894|NM_000484.4(APP):c.1588-83dup|Duplication|Benign|APP|criteria provided, single submitter|21","1292895|NM_000484.4(APP):c.2065-180_2065-179del|Deletion|Benign|APP|criteria provided, single submitter|21","1296695|NM_000484.4(APP):c.1687+263G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1298879|NM_000484.4(APP):c.2148C>G (p.Ile716Met)|single nucleotide variant|Likely pathogenic|APP|criteria provided, single submitter|21","1299705|NM_000484.4(APP):c.1409G>A (p.Arg470His)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1305617|NM_000484.4(APP):c.2253G>C (p.Lys751Asn)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1307352|NM_000484.4(APP):c.1651G>A (p.Val551Met)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1315088|NM_000484.4(APP):c.2011A>T (p.Met671Leu)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1342870|NM_000484.4(APP):c.2155A>C (p.Thr719Pro)|single nucleotide variant|Likely pathogenic|APP|criteria provided, single submitter|21","1346978|NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup)|Microsatellite|Uncertain significance|APP|criteria provided, single submitter|21","1350241|NM_000484.4(APP):c.1091-18T>G|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1353302|NC_000021.8:g.(?_27251861)_(27544138_?)dup|Duplication|Pathogenic|APP|criteria provided, single submitter|21","1354243|NM_000484.4(APP):c.1775C>T (p.Ala592Val)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1357546|NM_000484.4(APP):c.1748A>G (p.Glu583Gly)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1357645|NM_000484.4(APP):c.19C>G (p.Leu7Val)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1359826|NM_000484.4(APP):c.2020G>C (p.Glu674Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1364178|NM_000484.4(APP):c.533A>G (p.Lys178Arg)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1364778|NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del)|Deletion|Uncertain significance|APP|criteria provided, single submitter|21","1371948|NM_000484.4(APP):c.1210G>C (p.Glu404Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1372949|NM_000484.4(APP):c.1580G>A (p.Arg527Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1377814|NM_000484.4(APP):c.1849G>A (p.Asp617Asn)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1387676|NM_000484.4(APP):c.866-3T>C|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1397412|NM_000484.4(APP):c.1454C>T (p.Pro485Leu)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1400176|NM_000484.4(APP):c.1072G>C (p.Ala358Pro)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21"]}]}