{"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:6547,10,HGNC:6547,93,0]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6547","source":"HGNC:6547|low density lipoprotein receptor","targets":["1008168|NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala)|Indel|Uncertain significance|LDLR|criteria provided, single submitter|19","1009215|NM_000527.5(LDLR):c.313+1_313+2dup|Duplication|Uncertain significance|LDLR|criteria provided, single submitter|19","1012924|NM_000527.5(LDLR):c.1506T>C (p.Asp502=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1021643|NM_000527.5(LDLR):c.117C>T (p.Cys39=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1022799|NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1024550|NM_000527.5(LDLR):c.2395C>T (p.Leu799Phe)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1034427|NM_000527.5(LDLR):c.780C>A (p.Asp260Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|LDLR|criteria provided, conflicting classifications|19","1038354|NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, multiple submitters, no conflicts|19","1040877|NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1047002|NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1052293|NM_000527.5(LDLR):c.1706A>T (p.Asp569Val)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1057254|NM_000527.5(LDLR):c.679G>C (p.Asp227His)|single nucleotide variant|Conflicting classifications of pathogenicity|LDLR|criteria provided, conflicting classifications|19","1059537|NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|LDLR|criteria provided, conflicting classifications|19","1061080|NM_000527.5(LDLR):c.161A>C (p.Asp54Ala)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1062644|NM_000527.5(LDLR):c.1162C>G (p.His388Asp)|single nucleotide variant|Uncertain significance|LDLR|criteria provided, single submitter|19","1065909|NM_000527.5(LDLR):c.2312-1G>A|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1066036|NM_000527.5(LDLR):c.851G>T (p.Cys284Phe)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1066271|NM_000527.5(LDLR):c.810C>G (p.Cys270Trp)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1067553|NM_000527.5(LDLR):c.67+1dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","1068547|NM_000527.5(LDLR):c.1187-1_1187delinsTA|Indel|Pathogenic|LDLR|criteria provided, single submitter|19","1069255|NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1069978|NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)|Insertion|Pathogenic|LDLR|criteria provided, single submitter|19","1070723|NC_000019.9:g.(?_11213320)_(11216296_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1070724|NC_000019.9:g.(?_11213330)_(11222326_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1070725|NC_000019.9:g.(?_11217231)_(11224448_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1071946|NM_000527.5(LDLR):c.1411del (p.Arg471fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1072924|NM_000527.5(LDLR):c.1356C>A (p.Cys452Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1073028|NM_000527.5(LDLR):c.1516dup (p.Val506fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1073362|NM_000527.5(LDLR):c.1824del (p.Phe609fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1074663|NC_000019.9:g.(?_11240179)_(11241992_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1074682|NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)|Insertion|Pathogenic|LDLR|criteria provided, single submitter|19","1074804|NC_000019.9:g.(?_11223944)_(11227689_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1074805|NC_000019.9:g.(?_11223948)_(11241997_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1075416|NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter)|Duplication|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1075455|NM_000527.5(LDLR):c.2530_2542del (p.Gly844fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1076614|NC_000019.9:g.(?_11217231)_(11218204_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1076616|NC_000019.9:g.(?_11221289)_(11221471_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1076861|NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1076971|NM_000527.5(LDLR):c.2449_2453del (p.Asn817fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1077440|NM_000527.5(LDLR):c.9C>T (p.Pro3=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1077862|NM_000527.5(LDLR):c.1317T>C (p.Asn439=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1079082|NM_000527.5(LDLR):c.1062T>C (p.Asp354=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1079271|NM_000527.5(LDLR):c.190+9C>T|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1079283|NM_000527.5(LDLR):c.1752C>T (p.Ser584=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1080760|NM_000527.5(LDLR):c.2390-4A>G|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1080765|NM_000527.5(LDLR):c.1705+8C>T|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1081330|NM_000527.5(LDLR):c.1044C>T (p.Ala348=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1082361|NM_000527.5(LDLR):c.462G>A (p.Gln154=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1082941|NM_000527.5(LDLR):c.2312-9C>G|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1083029|NM_000527.5(LDLR):c.183G>A (p.Glu61=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1084399|NM_000527.5(LDLR):c.190+10C>G|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1086089|NM_000527.5(LDLR):c.519C>T (p.Cys173=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1087667|NM_000527.5(LDLR):c.1509C>A (p.Thr503=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1090153|NM_000527.5(LDLR):c.874C>T (p.Leu292=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1090647|NM_000527.5(LDLR):c.2277C>T (p.Leu759=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1090785|NM_000527.5(LDLR):c.1122C>T (p.Gly374=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1092476|NM_000527.5(LDLR):c.897T>G (p.Ala299=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1092664|NM_000527.5(LDLR):c.1665G>T (p.Leu555=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1094170|NM_000527.5(LDLR):c.2391G>T (p.Val797=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1095225|NM_000527.5(LDLR):c.2172A>T (p.Thr724=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1096204|NM_000527.5(LDLR):c.2547+10C>T|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1096610|NM_000527.5(LDLR):c.588C>A (p.Pro196=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1097179|NM_000527.5(LDLR):c.51C>T (p.Ala17=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1097410|NM_000527.5(LDLR):c.621C>A (p.Gly207=)|single nucleotide variant|Conflicting classifications of pathogenicity|LDLR|criteria provided, conflicting classifications|19","1097733|NM_000527.5(LDLR):c.936G>A (p.Glu312=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1099637|NM_000527.5(LDLR):c.817+7G>T|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1101171|NM_000527.5(LDLR):c.1987+9G>T|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1101310|NM_000527.5(LDLR):c.1023C>T (p.Pro341=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1101468|NM_000527.5(LDLR):c.2007G>A (p.Arg669=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1101469|NM_000527.5(LDLR):c.1377C>G (p.Ala459=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1103764|NM_000527.5(LDLR):c.2582G>A (p.Ter861=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1104459|NM_000527.5(LDLR):c.225T>C (p.Cys75=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1105075|NM_000527.5(LDLR):c.1494C>G (p.Val498=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1105244|NM_000527.5(LDLR):c.1146C>T (p.Gly382=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1105247|NM_000527.5(LDLR):c.1440T>G (p.Ala480=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1105915|NM_000527.5(LDLR):c.2394C>G (p.Leu798=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1106353|NM_000527.5(LDLR):c.1846-10G>A|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1106583|NM_000527.5(LDLR):c.1186+8C>T|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1106795|NM_000527.5(LDLR):c.1187-9G>A|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1108751|NM_000527.5(LDLR):c.513C>T (p.Pro171=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1108949|NM_000527.5(LDLR):c.1653C>T (p.Asp551=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1109453|NM_000527.5(LDLR):c.1527A>G (p.Lys509=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1110490|NM_000527.5(LDLR):c.366C>T (p.Ile122=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1111661|NM_000527.5(LDLR):c.2409C>T (p.Cys803=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1113039|NM_000527.5(LDLR):c.1111C>T (p.Leu371=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1113511|NM_000527.5(LDLR):c.313+8T>A|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1116042|NM_000527.5(LDLR):c.567G>T (p.Val189=)|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1117461|NM_000527.5(LDLR):c.1767T>C (p.Asp589=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1118060|NM_000527.5(LDLR):c.190+8C>A|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1119527|NM_000527.5(LDLR):c.1944C>T (p.Ser648=)|single nucleotide variant|Likely benign|LDLR|criteria provided, multiple submitters, no conflicts|19","1119727|NM_000527.5(LDLR):c.67+1075G>A|single nucleotide variant|Likely benign|LDLR|criteria provided, single submitter|19","1120145|Single allele|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1120146|Single allele|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1120147|Single allele|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1120148|Single allele|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1120149|Single allele|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1120150|Single allele|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1120151|Single allele|Deletion|Uncertain significance|LDLR|criteria provided, single submitter|19","1120245|NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","1120246|NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19"]}]}