{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:6547,10,HGNC:6547,137,3]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6547","source":"HGNC:6547|low density lipoprotein receptor","targets":["1052293|NM_000527.5(LDLR):c.1706A>T (p.Asp569Val)|single nucleotide variant|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","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","1120249|NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs)|Indel|Pathogenic|LDLR|criteria provided, single submitter|19","1120250|NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120251|NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120252|NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120253|NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120254|NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120255|NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|","1120256|NM_000527.5(LDLR):c.2547+2T>G|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1120258|NM_000527.5(LDLR):c.1061-1G>T|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1120259|NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1163620|NM_000527.5(LDLR):c.1137T>A (p.Cys379Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1163722|NM_000527.5(LDLR):c.1358+1G>C|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1220548|NM_000527.5(LDLR):c.181G>T (p.Glu61Ter)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1300653|NM_000527.5(LDLR):c.1037dup (p.Val347fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1321217|NM_000527.5(LDLR):c.103del (p.Gln35fs)|Deletion|Pathogenic|LDLR|no assertion criteria provided|19","1321218|NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1321221|NM_000527.5(LDLR):c.2487G>C (p.Gln829His)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1321223|NM_000527.5(LDLR):c.607del (p.His203fs)|Deletion|Pathogenic|LDLR|no assertion criteria provided|19","1321224|NM_000527.5(LDLR):c.618T>A (p.Ser206Arg)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1321225|NM_000527.5(LDLR):c.619G>T (p.Gly207Cys)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1321227|NM_000527.5(LDLR):c.764G>T (p.Cys255Phe)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1321228|NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1334396|NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1334399|NM_000527.5(LDLR):c.2022dup (p.Gly675fs)|Duplication|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1341564|NM_000527.5(LDLR):c.1586+1G>C|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1362872|NC_000019.9:g.(?_11230748)_(11231218_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1371905|NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1372829|NM_000527.5(LDLR):c.331C>T (p.Gln111Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1394742|NC_000019.9:g.(?_11238664)_(11241992_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1410201|NM_000527.5(LDLR):c.1171del (p.Ala391fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1418589|NM_000527.5(LDLR):c.2191_2195dup (p.Ser732fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1420888|NM_000527.5(LDLR):c.1661del (p.Ser554fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1423897|NM_000527.5(LDLR):c.2193dup (p.Ser732fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1452256|NM_000527.5(LDLR):c.17G>A (p.Trp6Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1452737|NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1454181|NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1454247|NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1454897|NM_000527.5(LDLR):c.116dup (p.Cys39fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1455062|NC_000019.9:g.(?_11199955)_(11218210_?)dup|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1455072|NM_000527.5(LDLR):c.97_115del (p.Gln33fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1455437|NM_000527.5(LDLR):c.620_626del (p.Gly207fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1455439|NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1455835|NM_000527.5(LDLR):c.108_109insT (p.Gly37fs)|Insertion|Pathogenic|LDLR|criteria provided, single submitter|19","1457589|NC_000019.9:g.(?_11240169)_(11241992_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1457599|NM_000527.5(LDLR):c.1167del (p.Lys390fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1457613|NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs)|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1458332|NC_000019.9:g.(?_11230748)_(11240366_?)dup|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1459377|NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1460038|NC_000019.9:g.(?_11213320)_(11217383_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1460041|NC_000019.9:g.(?_11221308)_(11234040_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1460327|NC_000019.9:g.(?_11210879)_(11216296_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","1460372|NC_000019.9:g.(?_11213320)_(11218210_?)dup|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1498802|NC_000019.9:g.(?_11241937)_(11241992_?)del|Deletion|Pathogenic|LDLR|criteria provided, single submitter|19","161266|NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161268|NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161269|NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161271|NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161277|NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161284|NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161285|NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161287|NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","161290|NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","162499|NM_000527.5(LDLR):c.1359-1G>A|single nucleotide variant|Pathogenic|LDLR|reviewed by expert panel|19","1676657|NM_000527.5(LDLR):c.1118dup (p.Gly374fs)|Duplication|Pathogenic|LDLR|no assertion criteria provided|19","1685923|NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1703193|NC_000019.9:g.(?_11222190)_(11227674_?)del|Deletion|Pathogenic|LDLR|reviewed by expert panel|19","1703194|NC_000019.9:g.(?_11200038)_(11211022_11213339)del|Deletion|Pathogenic|LDLR|reviewed by expert panel|19","1705272|NM_000527.5(LDLR):c.1338del (p.Ser447fs)|Deletion|Pathogenic|LDLR|no assertion criteria provided|19","1709599|NM_000527.5(LDLR):c.1061-2A>T|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19","1712251|NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)|single nucleotide variant|Pathogenic|LDLR|no assertion criteria provided|19","1727785|NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)|single nucleotide variant|Pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1730412|NM_000527.5(LDLR):c.334_349dup (p.His117fs)|Duplication|Pathogenic|LDLR|criteria provided, single submitter|19","1737013|NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)|single nucleotide variant|Pathogenic|LDLR|criteria provided, single submitter|19"]}]}