{"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:11179,10,HGNC:11179,63,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:11179","source":"HGNC:11179|superoxide dismutase 1","targets":["1002443|NM_000454.5(SOD1):c.455T>G (p.Ile152Ser)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1018905|NM_000454.5(SOD1):c.143T>C (p.Val48Ala)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1030809|NM_000454.5(SOD1):c.230A>T (p.Asp77Val)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1061106|NM_000454.5(SOD1):c.448A>G (p.Ile150Val)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1064422|NM_000454.5(SOD1):c.396T>G (p.Asn132Lys)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","1066874|NM_000454.5(SOD1):c.304G>C (p.Asp102His)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","1067619|NM_000454.5(SOD1):c.374A>T (p.Asp125Val)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1072003|NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1156259|NM_000454.5(SOD1):c.216C>T (p.His72=)|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1163753|NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1170537|NM_000454.5(SOD1):c.169+52_169+58del|Deletion|Benign/Likely benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1185773|NM_000454.5(SOD1):c.357+469C>A|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1187341|NM_000454.5(SOD1):c.239+208G>A|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1189982|NM_000454.5(SOD1):c.358-130G>C|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1191297|NM_000454.5(SOD1):c.269C>T (p.Ala90Val)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1192293|NM_000454.5(SOD1):c.357_357+2del|Microsatellite|Likely pathogenic|SOD1|criteria provided, single submitter|21","1200656|NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|SOD1|criteria provided, conflicting classifications|21","1203555|NM_000454.5(SOD1):c.357+229C>T|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1212596|NM_000454.5(SOD1):c.374A>G (p.Asp125Gly)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1220366|NM_000454.5(SOD1):c.239+358dup|Duplication|Likely benign|SOD1|criteria provided, single submitter|21","1221370|NM_000454.5(SOD1):c.358-413C>T|single nucleotide variant|Benign|SOD1|criteria provided, single submitter|21","1222120|NM_000454.5(SOD1):c.169+192T>G|single nucleotide variant|Benign|SOD1|criteria provided, single submitter|21","1244127|NM_000454.5(SOD1):c.170-286_170-285del|Deletion|Benign|SOD1|criteria provided, single submitter|21","1246681|NM_000454.5(SOD1):c.239+243A>G|single nucleotide variant|Benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1247442|NM_000454.5(SOD1):c.358-456del|Deletion|Benign|SOD1|criteria provided, single submitter|21","1253747|NM_000454.5(SOD1):c.73-8T>C|single nucleotide variant|Benign/Likely benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1253758|NM_000454.5(SOD1):c.240-251A>G|single nucleotide variant|Benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1256557|NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)|Deletion|Uncertain significance|SOD1|criteria provided, multiple submitters, no conflicts|21","1261166|NM_000454.5(SOD1):c.357+474C>T|single nucleotide variant|Benign|SOD1|criteria provided, single submitter|21","1271332|NM_000454.5(SOD1):c.357+316T>G|single nucleotide variant|Benign|SOD1|criteria provided, single submitter|21","1290348|NM_000454.5(SOD1):c.73-140G>C|single nucleotide variant|Benign|SOD1|criteria provided, single submitter|21","1328020|NM_000454.5(SOD1):c.72+19G>A|single nucleotide variant|Benign/Likely benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1343332|NM_000454.5(SOD1):c.450T>G (p.Ile150Met)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","1391413|NM_000454.5(SOD1):c.17T>C (p.Val6Ala)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1396752|NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1409985|NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del)|Deletion|Uncertain significance|SOD1|criteria provided, single submitter|21","1414851|NM_000454.5(SOD1):c.208A>G (p.Arg70Gly)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, multiple submitters, no conflicts|21","1430718|NM_000454.5(SOD1):c.287C>T (p.Ala96Val)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1455194|NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1459352|NM_000454.5(SOD1):c.62T>G (p.Phe21Cys)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","14752|NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14753|NM_000454.5(SOD1):c.115C>G (p.Leu39Val)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14754|NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1475411|NM_000454.5(SOD1):c.437C>T (p.Ala146Val)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","14755|NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14756|NM_000454.5(SOD1):c.131A>G (p.His44Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14757|NM_000454.5(SOD1):c.319C>G (p.Leu107Val)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14758|NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14759|NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","14760|NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","14761|NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14762|NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","14763|NM_000454.5(SOD1):c.14C>T (p.Ala5Val)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14764|NM_000454.5(SOD1):c.140A>G (p.His47Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14765|NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14766|NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|SOD1|criteria provided, conflicting classifications|21","14767|NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","14768|NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14769|NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","14770|NM_000454.5(SOD1):c.358-10T>G|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14771|NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14772|NM_000454.5(SOD1):c.455T>C (p.Ile152Thr)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14773|NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14774|NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14775|NM_000454.5(SOD1):c.253T>G (p.Leu85Val)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14777|NM_000454.5(SOD1):c.380T>A (p.Leu127Ter)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","1477719|NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","14778|NM_000454.5(SOD1):c.358-11A>G|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14780|NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14781|NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","14782|NM_000454.5(SOD1):c.242A>G (p.His81Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","14783|NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|SOD1|criteria provided, conflicting classifications|21","14784|NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)|single nucleotide variant|Pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","14786|NM_000454.5(SOD1):c.358-304=|single nucleotide variant|Pathogenic|SOD1|no assertion criteria provided|21","1484236|NM_000454.5(SOD1):c.216C>G (p.His72Gln)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1486895|NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup)|Duplication|Uncertain significance|SOD1|criteria provided, single submitter|21","1489352|NM_000454.5(SOD1):c.358G>C (p.Val120Leu)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1495024|NM_000454.5(SOD1):c.326_328del (p.Gly109del)|Deletion|Uncertain significance|SOD1|criteria provided, single submitter|21","1500887|NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)|single nucleotide variant|Pathogenic|SOD1|criteria provided, single submitter|21","1500897|NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","1505077|NM_000454.5(SOD1):c.69G>C (p.Gln23His)|single nucleotide variant|Conflicting classifications of pathogenicity|SOD1|criteria provided, conflicting classifications|21","1514037|NM_000454.5(SOD1):c.*273_*276del|Deletion|Uncertain significance|SOD1|criteria provided, single submitter|21","1514873|NM_000454.5(SOD1):c.43G>C (p.Val15Leu)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1562144|NM_000454.5(SOD1):c.358-17_358-15del|Microsatellite|Likely benign|SOD1|criteria provided, single submitter|21","1566123|NM_000454.5(SOD1):c.159T>C (p.Asp53=)|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1587194|NM_000454.5(SOD1):c.170-20T>C|single nucleotide variant|Benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1588210|NM_000454.5(SOD1):c.240-6T>A|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1614998|NM_000454.5(SOD1):c.239+17C>G|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1618512|NM_000454.5(SOD1):c.240-16G>A|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1630659|NM_000454.5(SOD1):c.72+13A>G|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21","1643211|NM_000454.5(SOD1):c.27G>A (p.Leu9=)|single nucleotide variant|Likely benign|SOD1|criteria provided, multiple submitters, no conflicts|21","1678021|NM_000454.5(SOD1):c.179G>T (p.Ser60Ile)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1678083|NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|SOD1|criteria provided, conflicting classifications|21","1685450|NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, single submitter|21","1693766|NM_000454.5(SOD1):c.362A>T (p.His121Leu)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1698619|NM_000454.5(SOD1):c.357+2T>G|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1708986|NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)|single nucleotide variant|Uncertain significance|SOD1|criteria provided, single submitter|21","1709733|NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)|single nucleotide variant|Pathogenic/Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1711542|NM_000454.5(SOD1):c.445G>A (p.Val149Ile)|single nucleotide variant|Likely pathogenic|SOD1|criteria provided, multiple submitters, no conflicts|21","1747939|NM_000454.5(SOD1):c.54C>A (p.Ile18=)|single nucleotide variant|Likely benign|SOD1|criteria provided, single submitter|21"]}]}