{"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:10593,10,HGNC:10593,16,15]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:10593","source":"HGNC:10593|sodium voltage-gated channel alpha subunit 5","targets":["1012143|NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1069871|NC_000003.11:g.(?_38655228)_(38663986_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1071777|NM_000335.5(SCN5A):c.334dup (p.Tyr112fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","1072446|NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1072847|NM_000335.5(SCN5A):c.934+1G>A|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1073629|NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","1073809|NM_000335.5(SCN5A):c.4085del (p.Cys1362fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1074266|NC_000003.11:g.(?_38674520)_(38674804_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1075437|NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1076513|NM_000335.5(SCN5A):c.901del (p.Trp301fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1076515|NM_000335.5(SCN5A):c.3758del (p.Met1253fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1076635|NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1184975|NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","1185878|NM_000335.5(SCN5A):c.3762del (p.Leu1255fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1187556|NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1214434|NM_000335.5(SCN5A):c.2274del (p.Ile759fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1299249|NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs)|Duplication|Pathogenic|SCN5A|no assertion criteria provided|3","1361908|NM_000335.5(SCN5A):c.1589del (p.Phe530fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1374462|NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1375303|NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1386100|NM_000335.5(SCN5A):c.2533dup (p.Val845fs)|Duplication|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1406093|NM_000335.5(SCN5A):c.1452del (p.Gly485fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1408176|NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1434817|NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs)|Microsatellite|Pathogenic|SCN5A|criteria provided, single submitter|3","1449654|NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del)|Microsatellite|Pathogenic|SCN5A|criteria provided, single submitter|3","1451878|NM_000335.5(SCN5A):c.4373del (p.Phe1458fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1452285|NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1454071|NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1455694|NM_000335.5(SCN5A):c.1555del (p.Ser519fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1455926|NM_000335.5(SCN5A):c.475_482+3del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1457006|NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","1457205|NC_000003.11:g.(?_38616768)_(38649725_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1458575|NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1459394|NC_000003.11:g.(?_38591802)_(38674808_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1459701|NC_000003.11:g.(?_38671792)_(38674808_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1460043|NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1502060|NM_000335.5(SCN5A):c.1140+2T>G|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1527869|NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1733997|NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1737836|NM_000335.5(SCN5A):c.40del (p.Arg14fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1755450|NM_000335.5(SCN5A):c.1230del (p.Val411fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1773144|NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","1777850|NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","1788496|NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1792542|NM_000335.5(SCN5A):c.2520del (p.Asn841fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","179338|NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","179829|NM_000335.5(SCN5A):c.1936del (p.Gln646fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1803812|NM_000335.5(SCN5A):c.104dup (p.Ser36fs)|Duplication|Pathogenic|SCN5A|no assertion criteria provided|3","201427|NM_000335.5(SCN5A):c.611+1G>A|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201438|NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201443|NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201447|NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201448|NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201488|NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201500|NM_000335.5(SCN5A):c.3820G>T (p.Asp1274Tyr)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201502|NM_000335.5(SCN5A):c.3991C>T (p.Pro1331Ser)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201504|NM_000335.5(SCN5A):c.4032G>A (p.Trp1344Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201547|NM_000335.5(SCN5A):c.57del (p.Glu19fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","201554|NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","201555|NM_000335.5(SCN5A):c.1711del (p.Ser571fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201556|NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","201557|NM_000335.5(SCN5A):c.1753del (p.His585fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201558|NM_000335.5(SCN5A):c.2103del (p.Leu702fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201560|NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)|Microsatellite|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201561|NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201566|NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs)|Duplication|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201567|NM_000335.5(SCN5A):c.3514_3515del (p.Val1172fs)|Microsatellite|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201571|NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)|Deletion|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201580|NM_000335.5(SCN5A):c.2023+2T>A|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201585|NM_000335.5(SCN5A):c.3572G>A (p.Trp1191Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201593|NM_000335.5(SCN5A):c.4810G>C (p.Gly1604Arg)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","201598|NM_000335.5(SCN5A):c.2704_2705dup (p.Met903fs)|Duplication|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","201600|NM_000335.5(SCN5A):c.4469del (p.Gln1490fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","201601|NM_000335.5(SCN5A):c.4609_4613dup (p.Cys1538Ter)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","2016359|NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","2016715|NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2026498|NM_000335.5(SCN5A):c.3960+1G>T|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2027105|NM_000335.5(SCN5A):c.206del (p.Gly69fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2027600|NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2031437|NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2036709|NM_000335.5(SCN5A):c.596del (p.Ser199fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2039747|NM_000335.5(SCN5A):c.1246del (p.Tyr416fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2069900|NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2094285|NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2100770|NM_000335.5(SCN5A):c.3584del (p.Lys1195fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2106626|NM_000335.5(SCN5A):c.4836del (p.Lys1613fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2107170|NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","2107269|NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs)|Duplication|Pathogenic|SCN5A|criteria provided, single submitter|3","2113775|NM_000335.5(SCN5A):c.1652del (p.Ala551fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2114785|NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2124520|NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs)|Microsatellite|Pathogenic|SCN5A|criteria provided, single submitter|3","216141|NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","216142|NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer)|Indel|Pathogenic|SCN5A|criteria provided, single submitter|3","217838|NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","2203335|NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2203338|NM_000335.5(SCN5A):c.2541del (p.Ile848fs)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","2203339|NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2203340|NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","2203341|NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, single submitter|3","242199|NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)|single nucleotide variant|Pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3"]}]}