{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely 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:6547,191,11]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6547","source":"HGNC:6547|low density lipoprotein receptor","targets":["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","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","1120248|NM_000527.5(LDLR):c.102C>G (p.Cys34Trp)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1163724|NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1180495|NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1284721|NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1300030|NM_000527.5(LDLR):c.373_379del (p.Gln125fs)|Deletion|Likely pathogenic|LDLR|no assertion criteria provided|19","1321222|NM_000527.5(LDLR):c.378C>A (p.Phe126Leu)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1321226|NM_000527.5(LDLR):c.727T>A (p.Cys243Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1321229|NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1330203|GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3|copy number gain|Likely pathogenic|LDLR|criteria provided, single submitter|19","1334394|NM_000527.5(LDLR):c.-8C>A|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1334395|NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1341565|NM_000527.5(LDLR):c.1706-2A>G|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1341566|NM_000527.5(LDLR):c.1846-11T>A|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1341567|NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs)|Indel|Likely pathogenic|LDLR|criteria provided, single submitter|19","1341570|NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|","1343370|NM_000527.5(LDLR):c.667_681del (p.Lys223_Asp227del)|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","1395739|NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","1434758|NM_000527.5(LDLR):c.781T>A (p.Cys261Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1436912|NM_000527.5(LDLR):c.44T>G (p.Leu15Arg)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1497238|NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1498943|NC_000019.9:g.(?_11210879)_(11227694_?)dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","1500501|NM_000527.5(LDLR):c.311_313+18del|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","1518023|NM_000527.5(LDLR):c.1307T>A (p.Val436Glu)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1520258|NM_000527.5(LDLR):c.190+2_190+3del|Microsatellite|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","161265|NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","161276|NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","1677968|NM_000527.5(LDLR):c.280del (p.Asp94fs)|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","1683260|NM_000527.5(LDLR):c.1846-1_1847dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","1701351|NM_000527.5(LDLR):c.2139A>G (p.Thr713=)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1705273|NM_000527.5(LDLR):c.1298A>T (p.Asp433Val)|single nucleotide variant|Likely pathogenic|LDLR|no assertion criteria provided|19","1740423|NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1754692|NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","1755040|NM_000527.5(LDLR):c.670G>C (p.Asp224His)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1763717|NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1764981|NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1769469|NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)|Indel|Likely pathogenic|LDLR|criteria provided, single submitter|19","1778186|NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","1779868|NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1783984|NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1785647|NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1789452|NM_000527.5(LDLR):c.2312-2A>C|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1791746|NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1809781|NM_000527.5(LDLR):c.281A>T (p.Asp94Val)|single nucleotide variant|Likely pathogenic|LDLR|no assertion criteria provided|19","183083|NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183085|NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183089|NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183098|NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183105|NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183108|NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183113|NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183124|NM_000527.5(LDLR):c.1747C>G (p.His583Asp)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","183128|NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","1924983|NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1968609|NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1972135|NM_000527.5(LDLR):c.602A>C (p.Glu201Ala)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1975487|NM_000527.5(LDLR):c.1298A>C (p.Asp433Ala)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1986771|NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","1996374|NM_000527.5(LDLR):c.2114C>T (p.Ala705Val)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","200923|NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","2036616|NM_000527.5(LDLR):c.2141-1G>C|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2099294|NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2118340|NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2133944|NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2138225|NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","2152308|NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","2152309|NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2193196|NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","225097|NM_000527.5(LDLR):c.190+4A>T|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","225180|NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs)|Insertion|Likely pathogenic|LDLR|criteria provided, single submitter|19","226308|NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","226323|NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","226326|NM_000527.5(LDLR):c.533A>T (p.Asp178Val)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","226332|NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","226336|NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","226343|NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","226352|NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","226354|NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","226374|NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","226382|NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","226385|NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, multiple submitters, no conflicts|19","226386|NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","226395|NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","228798|NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","2423218|NC_000019.9:g.(?_11213330)_(11227689_?)dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","2423223|NC_000019.9:g.(?_11234271)_(11242805_?)dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","2430372|NM_000527.5(LDLR):c.1794_1795del (p.Leu599fs)|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","2441124|NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2453918|NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2500308|NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)|single nucleotide variant|Likely pathogenic|LDLR|criteria provided, single submitter|19","2500336|NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs)|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","250931|c.(?_-187)_(67+1_68-1)dup|Duplication|Likely pathogenic|LDLR|criteria provided, single submitter|19","250941|NC_000019.10:g.11089364_11089366del|Deletion|Likely pathogenic|LDLR|criteria provided, single submitter|19","250967|NM_000527.5(LDLR):c.1A>G (p.Met1Val)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19","250969|NM_000527.5(LDLR):c.3G>T (p.Met1Ile)|single nucleotide variant|Likely pathogenic|LDLR|reviewed by expert panel|19"]}]}