{"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:4910,10,HGNC:4910,28,2]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:4910","source":"HGNC:4910|hypoxia inducible factor 1 subunit alpha","targets":["161843|NM_001530.4(HIF1A):c.700G>A (p.Glu234Lys)|single nucleotide variant|Uncertain significance|HIF1A|no assertion criteria provided|14","1803796|NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|HIF1A|criteria provided, conflicting classifications|14","1803802|NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)|single nucleotide variant|Likely pathogenic|HIF1A|criteria provided, single submitter|14","1803803|NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)|single nucleotide variant|Likely pathogenic|HIF1A|criteria provided, single submitter|14","1803804|NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)|single nucleotide variant|Likely pathogenic|HIF1A|criteria provided, single submitter|14","1803805|NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)|single nucleotide variant|Likely pathogenic|HIF1A|criteria provided, single submitter|14","218593|NM_001530.4(HIF1A):c.2035C>G (p.Gln679Glu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, multiple submitters, no conflicts|14","2207111|NM_001530.4(HIF1A):c.1091T>C (p.Val364Ala)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2235981|NM_001530.4(HIF1A):c.1573A>G (p.Ser525Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2242060|NM_001530.4(HIF1A):c.1572T>G (p.Asp524Glu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2303521|NM_001530.4(HIF1A):c.121G>T (p.Ala41Ser)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2310263|NM_001530.4(HIF1A):c.2411C>G (p.Ala804Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2316631|NM_001530.4(HIF1A):c.180G>A (p.Met60Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2368688|NM_001530.4(HIF1A):c.359T>C (p.Met120Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2390450|NM_001530.4(HIF1A):c.1065A>T (p.Gln355His)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2399991|NM_001530.4(HIF1A):c.155C>T (p.Ser52Leu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2403656|NM_001530.4(HIF1A):c.613A>G (p.Ser205Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2408751|NM_001530.4(HIF1A):c.1993C>T (p.Arg665Trp)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2461193|NM_001530.4(HIF1A):c.1282G>A (p.Val428Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2463296|NM_001530.4(HIF1A):c.868A>T (p.Thr290Ser)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2494263|NM_001530.4(HIF1A):c.2194G>A (p.Val732Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2515962|NM_001530.4(HIF1A):c.1289T>C (p.Leu430Ser)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2544927|NM_001530.4(HIF1A):c.1994G>A (p.Arg665Gln)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2557432|NM_001530.4(HIF1A):c.232T>A (p.Leu78Met)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2571397|NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|HIF1A|criteria provided, conflicting classifications|14","2616224|NM_001530.4(HIF1A):c.1964C>T (p.Thr655Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2644273|NM_001530.4(HIF1A):c.722C>A (p.Thr241Asn)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","2683253|NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|HIF1A|criteria provided, conflicting classifications|14","2685487|GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1|copy number loss|Pathogenic|HIF1A|criteria provided, single submitter|14","2920757|NM_001530.4(HIF1A):c.639G>A (p.Lys213=)|single nucleotide variant|Benign|HIF1A|criteria provided, multiple submitters, no conflicts|14","2920760|NM_001530.4(HIF1A):c.774-3C>T|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","2920767|NM_001530.4(HIF1A):c.35+2003del|Deletion|Benign|HIF1A|criteria provided, single submitter|14","2920784|NM_001530.4(HIF1A):c.880+16G>T|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3105810|NM_001530.4(HIF1A):c.1471A>G (p.Met491Val)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105811|NM_001530.4(HIF1A):c.1496C>T (p.Pro499Leu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105812|NM_001530.4(HIF1A):c.1631C>A (p.Thr544Lys)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105813|NM_001530.4(HIF1A):c.1732G>A (p.Asp578Asn)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105814|NM_001530.4(HIF1A):c.1766G>C (p.Ser589Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105815|NM_001530.4(HIF1A):c.1788A>C (p.Gln596His)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105816|NM_001530.4(HIF1A):c.1792A>C (p.Thr598Pro)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105817|NM_001530.4(HIF1A):c.2011A>G (p.Arg671Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105818|NM_001530.4(HIF1A):c.2077G>A (p.Val693Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105819|NM_001530.4(HIF1A):c.2416A>G (p.Ile806Val)|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3105820|NM_001530.4(HIF1A):c.2438T>C (p.Leu813Pro)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105821|NM_001530.4(HIF1A):c.62A>G (p.Lys21Arg)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3105822|NM_001530.4(HIF1A):c.781G>A (p.Glu261Lys)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3284272|NM_001530.4(HIF1A):c.122C>T (p.Ala41Val)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3284273|NM_001530.4(HIF1A):c.415T>C (p.Cys139Arg)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3284274|NM_001530.4(HIF1A):c.1040A>G (p.Gln347Arg)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3284275|NM_001530.4(HIF1A):c.1304T>C (p.Met435Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3284276|NM_001530.4(HIF1A):c.1583T>C (p.Val528Ala)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3525504|NM_001530.4(HIF1A):c.1918G>C (p.Ala640Pro)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3525505|NM_001530.4(HIF1A):c.1958G>C (p.Ser653Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3525506|NM_001530.4(HIF1A):c.1795G>A (p.Val599Ile)|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3525507|NM_001530.4(HIF1A):c.1891C>G (p.Arg631Gly)|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3766914|NM_001530.4(HIF1A):c.363A>G (p.Gly121=)|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3766991|NM_001530.4(HIF1A):c.2080G>A (p.Ala694Thr)|single nucleotide variant|Likely benign|HIF1A|criteria provided, single submitter|14","3857806|NM_001530.4(HIF1A):c.2361G>C (p.Met787Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857807|NM_001530.4(HIF1A):c.434G>C (p.Arg145Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857808|NM_001530.4(HIF1A):c.1210G>A (p.Ala404Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857810|NM_001530.4(HIF1A):c.492G>C (p.Gln164His)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857811|NM_001530.4(HIF1A):c.2030T>C (p.Ile677Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857812|NM_001530.4(HIF1A):c.289G>C (p.Asp97His)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","3857813|NM_001530.4(HIF1A):c.1973C>T (p.Pro658Leu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035167|NM_001530.4(HIF1A):c.1966T>C (p.Ser656Pro)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035168|NM_001530.4(HIF1A):c.1298A>G (p.Asp433Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035169|NM_001530.4(HIF1A):c.2405T>G (p.Val802Gly)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035170|NM_001530.4(HIF1A):c.1113G>A (p.Met371Ile)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035171|NM_001530.4(HIF1A):c.1366G>A (p.Ala456Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035172|NM_001530.4(HIF1A):c.37A>G (p.Ile13Val)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035174|NM_001530.4(HIF1A):c.598G>T (p.Val200Leu)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035175|NM_001530.4(HIF1A):c.2122C>G (p.Pro708Ala)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035176|NM_001530.4(HIF1A):c.220G>C (p.Asp74His)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035177|NM_001530.4(HIF1A):c.1954A>G (p.Thr652Ala)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035178|NM_001530.4(HIF1A):c.1472T>C (p.Met491Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4035179|NM_001530.4(HIF1A):c.2170C>T (p.His724Tyr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4075883|GRCh37/hg19 14q23.2(chr14:62191694-62861858)x1|copy number loss|Uncertain significance|HIF1A|criteria provided, single submitter|14","4270785|NM_001530.4(HIF1A):c.152G>C (p.Ser51Thr)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4270787|NM_001530.4(HIF1A):c.2470C>A (p.Gln824Lys)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4270789|NM_001530.4(HIF1A):c.611A>G (p.Asn204Ser)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4270793|NM_001530.4(HIF1A):c.2319A>C (p.Leu773Phe)|single nucleotide variant|Uncertain significance|HIF1A|criteria provided, single submitter|14","4398070|NM_001530.4(HIF1A):c.35+224C>A|single nucleotide variant||HIF1A||14","4398071|NM_001530.4(HIF1A):c.35+2116G>C|single nucleotide variant||HIF1A||14","4398072|NM_001530.4(HIF1A):c.36-15G>C|single nucleotide variant||HIF1A||14","4398073|NM_001530.4(HIF1A):c.224C>T (p.Ala75Val)|single nucleotide variant||HIF1A||14","4398074|NM_001530.4(HIF1A):c.226G>A (p.Gly76Ser)|single nucleotide variant||HIF1A||14","4398075|NM_001530.4(HIF1A):c.373-13A>G|single nucleotide variant||HIF1A||14","4398077|NM_001530.4(HIF1A):c.1249+2T>C|single nucleotide variant||HIF1A||14","4398078|NM_001530.4(HIF1A):c.1472T>G (p.Met491Arg)|single nucleotide variant||HIF1A||14","4398079|NM_001530.4(HIF1A):c.1536+13A>G|single nucleotide variant||HIF1A||14","4398080|NM_001530.4(HIF1A):c.1659G>T (p.Gln553His)|single nucleotide variant||HIF1A||14","4398081|NM_001530.4(HIF1A):c.1659+2T>C|single nucleotide variant||HIF1A||14","4398082|NM_001530.4(HIF1A):c.1660-57G>T|single nucleotide variant||HIF1A||14","4398083|NM_001530.4(HIF1A):c.1660-6T>G|single nucleotide variant||HIF1A||14","4398084|NM_001530.4(HIF1A):c.1660-1G>A|single nucleotide variant||HIF1A||14","4398085|NM_001530.4(HIF1A):c.1740G>T (p.Leu580Phe)|single nucleotide variant||HIF1A||14","4398086|NM_001530.4(HIF1A):c.2093+6T>G|single nucleotide variant||HIF1A||14","4398088|NM_001530.4(HIF1A):c.2094-1G>C|single nucleotide variant||HIF1A||14","4398089|NM_001530.4(HIF1A):c.2158C>T (p.Arg720Ter)|single nucleotide variant||HIF1A||14","4398090|NM_001530.4(HIF1A):c.2202+2T>C|single nucleotide variant||HIF1A||14"]}]}