{"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:10593,10,HGNC:10593,109,1]["},"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":["1000020|NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1000041|NM_000335.5(SCN5A):c.84G>A (p.Met28Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1000832|NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1000998|NM_000335.5(SCN5A):c.6032G>A (p.Arg2011His)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1002978|NM_000335.5(SCN5A):c.1561A>G (p.Lys521Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1003253|NM_000335.5(SCN5A):c.1112A>G (p.Gln371Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1004718|NM_000335.5(SCN5A):c.1564C>T (p.Pro522Ser)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1004754|NM_000335.5(SCN5A):c.4631T>C (p.Met1544Thr)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1005584|NM_000335.5(SCN5A):c.5554A>C (p.Ile1852Leu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1005788|NM_000335.5(SCN5A):c.1949T>C (p.Val650Ala)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1006492|NM_000335.5(SCN5A):c.4915G>A (p.Ala1639Thr)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1007148|NM_000335.5(SCN5A):c.5039A>T (p.Tyr1680Phe)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1007995|NM_000335.5(SCN5A):c.2690G>A (p.Gly897Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1007996|NM_000335.5(SCN5A):c.677C>A (p.Ala226Asp)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1008030|NM_000335.5(SCN5A):c.2773A>G (p.Ile925Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1010099|NM_000335.5(SCN5A):c.1213G>C (p.Val405Leu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1010271|NM_000335.5(SCN5A):c.354C>G (p.His118Gln)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1010686|NM_000335.5(SCN5A):c.596G>T (p.Ser199Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1011689|NM_000335.5(SCN5A):c.4694_4695delinsAA (p.Leu1565Gln)|Indel|Uncertain significance|SCN5A|criteria provided, single submitter|3","1011712|NM_000335.5(SCN5A):c.2436+6T>C|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1012128|NM_000335.5(SCN5A):c.368C>A (p.Ala123Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1012129|NM_000335.5(SCN5A):c.356C>T (p.Pro119Leu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1012143|NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del)|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1012496|NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1013702|NM_000335.5(SCN5A):c.4096A>C (p.Thr1366Pro)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1013945|NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1015741|NM_000335.5(SCN5A):c.854C>T (p.Thr285Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1015850|NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1017112|NM_000335.5(SCN5A):c.3437C>G (p.Thr1146Ser)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1017347|NM_000335.5(SCN5A):c.1198G>A (p.Gly400Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1017350|NM_000335.5(SCN5A):c.4804A>G (p.Ile1602Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1018509|NM_000335.5(SCN5A):c.2362A>G (p.Ile788Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1020709|NC_000003.11:g.(?_38616778)_(38620996_?)del|Deletion|Uncertain significance|SCN5A|criteria provided, single submitter|3","1020768|NM_000335.5(SCN5A):c.1945T>G (p.Cys649Gly)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1022269|NM_000335.5(SCN5A):c.2671A>G (p.Ile891Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1022855|NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1023653|NM_000335.5(SCN5A):c.1015T>C (p.Tyr339His)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1023804|NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1025338|NM_000335.5(SCN5A):c.3817C>T (p.Leu1273Phe)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1026458|NM_000335.5(SCN5A):c.1814G>C (p.Gly605Ala)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1026708|NM_000335.5(SCN5A):c.4642A>G (p.Thr1548Ala)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1027588|NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1035042|NM_000335.5(SCN5A):c.33C>A (p.Ser11Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1035159|NM_000335.5(SCN5A):c.5642C>T (p.Ala1881Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1036243|NM_000335.5(SCN5A):c.393G>A (p.Ser131=)|single nucleotide variant|Conflicting classifications of pathogenicity|SCN5A|criteria provided, conflicting classifications|3","1038492|NM_000335.5(SCN5A):c.3399C>G (p.Asp1133Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1039021|NM_000335.5(SCN5A):c.4541A>G (p.Asn1514Ser)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1040731|NM_000335.5(SCN5A):c.608T>C (p.Met203Thr)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1040934|NM_000335.5(SCN5A):c.1420A>G (p.Arg474Gly)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1041109|NM_000335.5(SCN5A):c.4540-10C>A|single nucleotide variant|Conflicting classifications of pathogenicity|SCN5A|criteria provided, conflicting classifications|3","1041885|NM_000335.5(SCN5A):c.1058C>G (p.Thr353Ser)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1041943|NM_000335.5(SCN5A):c.5537G>T (p.Arg1846Leu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1042924|NM_000335.5(SCN5A):c.799A>G (p.Ile267Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1043347|NM_000335.5(SCN5A):c.1945T>C (p.Cys649Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1043880|NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1044046|NM_000335.5(SCN5A):c.569G>C (p.Arg190Pro)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1044155|NM_000335.5(SCN5A):c.582C>A (p.Asn194Lys)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1044809|NM_000335.5(SCN5A):c.4936C>T (p.Leu1646Phe)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1044880|NM_000335.5(SCN5A):c.1955G>T (p.Gly652Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1045161|NM_000335.5(SCN5A):c.4726G>A (p.Val1576Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1045885|NM_000335.5(SCN5A):c.2210A>G (p.Glu737Gly)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1046765|NM_000335.5(SCN5A):c.5619G>T (p.Gln1873His)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1047122|NM_000335.5(SCN5A):c.340C>T (p.Leu114Phe)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1047223|NM_000335.5(SCN5A):c.1658A>T (p.Glu553Val)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1047573|NM_000335.5(SCN5A):c.3872G>C (p.Gly1291Ala)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1051652|NM_000335.5(SCN5A):c.5105_5106delinsTT (p.Cys1702Phe)|Indel|Uncertain significance|SCN5A|criteria provided, single submitter|3","1052644|NM_000335.5(SCN5A):c.5516T>G (p.Leu1839Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1053288|NM_000335.5(SCN5A):c.3413G>A (p.Gly1138Asp)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1054850|NM_000335.5(SCN5A):c.4795A>T (p.Ile1599Phe)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1054941|NM_000335.5(SCN5A):c.994G>C (p.Ala332Pro)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1055232|NM_000335.5(SCN5A):c.4712C>G (p.Thr1571Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1055715|NM_000335.5(SCN5A):c.4434+6T>C|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1057952|NM_000335.5(SCN5A):c.5151C>G (p.Ser1717Arg)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1059996|NM_000335.5(SCN5A):c.1652C>A (p.Ala551Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1061680|NM_000335.5(SCN5A):c.2396C>A (p.Ser799Tyr)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1062734|NM_000335.5(SCN5A):c.1580G>A (p.Gly527Glu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1062768|NM_000335.5(SCN5A):c.4595C>T (p.Thr1532Ile)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1063411|NM_000335.5(SCN5A):c.4816G>T (p.Val1606Leu)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, multiple submitters, no conflicts|3","1064644|NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys)|single nucleotide variant|Uncertain significance|SCN5A|criteria provided, single submitter|3","1066010|NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu)|single nucleotide variant|Likely pathogenic|SCN5A|criteria provided, single submitter|3","1066556|NM_000335.5(SCN5A):c.1003T>C (p.Cys335Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|SCN5A|criteria provided, conflicting classifications|3","1066904|NC_000003.11:g.(?_38591792)_(38593069_?)del|Deletion|Likely pathogenic|SCN5A|criteria provided, single submitter|3","1067586|NM_000335.5(SCN5A):c.2024-1G>A|single nucleotide variant|Likely pathogenic|SCN5A|criteria provided, single submitter|3","1068181|NM_000335.5(SCN5A):c.4296+1G>T|single nucleotide variant|Likely pathogenic|SCN5A|criteria provided, multiple submitters, no conflicts|3","1069871|NC_000003.11:g.(?_38655228)_(38663986_?)del|Deletion|Pathogenic|SCN5A|criteria provided, single submitter|3","1070823|NM_000335.5(SCN5A):c.5218del (p.Asp1740fs)|Deletion|Conflicting classifications of pathogenicity|SCN5A|criteria provided, conflicting classifications|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","1078884|NM_000335.5(SCN5A):c.2331C>T (p.Phe777=)|single nucleotide variant|Likely benign|SCN5A|criteria provided, multiple submitters, no conflicts|3","1079583|NM_000335.5(SCN5A):c.4614C>T (p.Cys1538=)|single nucleotide variant|Likely benign|SCN5A|criteria provided, multiple submitters, no conflicts|3","1079806|NM_000335.5(SCN5A):c.312G>A (p.Arg104=)|single nucleotide variant|Likely benign|SCN5A|criteria provided, single submitter|3","1080217|NM_000335.5(SCN5A):c.4488C>T (p.Ala1496=)|single nucleotide variant|Likely benign|SCN5A|criteria provided, multiple submitters, no conflicts|3"]}]}