{"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:4851,10,HGNC:4851,80,0]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:4851","source":"HGNC:4851|huntingtin","targets":["1029557|NM_001388492.1(HTT):c.1972G>A (p.Asp658Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1029558|NM_001388492.1(HTT):c.3671C>T (p.Ser1224Phe)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1033480|NM_001388492.1(HTT):c.2396-9T>G|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1033481|NM_001388492.1(HTT):c.3709C>A (p.Leu1237Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1033482|NM_001388492.1(HTT):c.5226-4G>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1049703|NM_001388492.1(HTT):c.54GCA[27] (p.Gln31_Gln38dup)|Microsatellite|Benign|HTT|criteria provided, single submitter|4","1172815|NM_001388492.1(HTT):c.7725G>A (p.Gln2575=)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1174947|NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup)|Microsatellite|Benign|HTT|criteria provided, single submitter|4","1176797|NM_001388492.1(HTT):c.7154C>T (p.Pro2385Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1176798|NM_001388492.1(HTT):c.8108C>T (p.Ser2703Phe)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1206059|NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)|single nucleotide variant|Conflicting classifications of pathogenicity|HTT|criteria provided, conflicting classifications|4","1298952|NM_001388492.1(HTT):c.2758G>A (p.Asp920Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1301634|NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup)|Microsatellite|Conflicting classifications of pathogenicity|HTT|criteria provided, conflicting classifications|4","1328024|NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)|Microsatellite|Benign/Likely benign|HTT|no assertion criteria provided|4","1335556|NM_001388492.1(HTT):c.5427C>T (p.Gly1809=)|single nucleotide variant|Likely benign|HTT|criteria provided, single submitter|4","1345071|NM_001388492.1(HTT):c.889+6G>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1345246|NM_001388492.1(HTT):c.7940C>T (p.Pro2647Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1345275|NM_001388492.1(HTT):c.3205A>G (p.Met1069Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1345302|NM_001388492.1(HTT):c.3908G>A (p.Arg1303Gln)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1346468|NM_001388492.1(HTT):c.4268G>A (p.Arg1423His)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1347123|NM_001388492.1(HTT):c.1615G>A (p.Ala539Thr)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1348091|NM_001388492.1(HTT):c.2237-3C>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1348160|NM_001388492.1(HTT):c.1406C>T (p.Ser469Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1349918|NM_001388492.1(HTT):c.1346A>C (p.Glu449Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1350146|NM_001388492.1(HTT):c.9311A>T (p.Glu3104Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1350590|NM_001388492.1(HTT):c.4612+5C>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1350636|NM_001388492.1(HTT):c.8678G>T (p.Arg2893Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1350917|NM_001388492.1(HTT):c.1498C>T (p.Arg500Trp)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1350975|NM_001388492.1(HTT):c.1441T>G (p.Ser481Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1351542|NM_001388492.1(HTT):c.7516A>G (p.Ile2506Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1351900|NM_001388492.1(HTT):c.6188G>A (p.Arg2063His)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1352525|NM_001388492.1(HTT):c.3758C>T (p.Thr1253Met)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1354048|NM_001388492.1(HTT):c.3635A>G (p.Gln1212Arg)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1355049|NM_001388492.1(HTT):c.7498G>A (p.Val2500Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1355970|NM_001388492.1(HTT):c.7010A>G (p.Lys2337Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|HTT|criteria provided, conflicting classifications|4","1356024|NM_001388492.1(HTT):c.747+4del|Deletion|Uncertain significance|HTT|criteria provided, single submitter|4","1357041|NM_001388492.1(HTT):c.8110-1G>A|single nucleotide variant|Likely pathogenic|HTT|criteria provided, single submitter|4","1357591|NM_001388492.1(HTT):c.5002A>G (p.Thr1668Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1357723|NM_001388492.1(HTT):c.1618G>A (p.Val540Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1358645|NM_001388492.1(HTT):c.433A>G (p.Met145Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1359681|NM_001388492.1(HTT):c.5220T>A (p.Phe1740Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1360842|NM_001388492.1(HTT):c.5226-3A>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1361033|NM_001388492.1(HTT):c.1300G>A (p.Val434Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1361480|NM_001388492.1(HTT):c.5844T>A (p.Ala1948=)|single nucleotide variant|Likely benign|HTT|criteria provided, single submitter|4","1361939|NM_001388492.1(HTT):c.6220T>C (p.Ser2074Pro)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1362110|NM_001388492.1(HTT):c.2554G>A (p.Asp852Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1362579|NM_001388492.1(HTT):c.2113A>G (p.Arg705Gly)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1363247|NM_001388492.1(HTT):c.2848G>T (p.Val950Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1363813|NM_001388492.1(HTT):c.3718C>T (p.His1240Tyr)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1364349|NM_001388492.1(HTT):c.4142C>T (p.Ala1381Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1366273|NM_001388492.1(HTT):c.9382C>T (p.Arg3128Trp)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1366678|NM_001388492.1(HTT):c.4483C>G (p.Pro1495Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1366977|NM_001388492.1(HTT):c.5536A>G (p.Thr1846Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1367229|NM_001388492.1(HTT):c.5444T>C (p.Leu1815Pro)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1367297|NM_001388492.1(HTT):c.3475G>C (p.Val1159Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1367572|NM_001388492.1(HTT):c.3942+6A>C|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1367836|NM_001388492.1(HTT):c.5539G>A (p.Asp1847Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1368155|NM_001388492.1(HTT):c.2176C>T (p.His726Tyr)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1368874|NM_001388492.1(HTT):c.3470A>G (p.Asp1157Gly)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1369807|NM_001388492.1(HTT):c.1048T>G (p.Ser350Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1371692|NM_001388492.1(HTT):c.2189T>A (p.Phe730Tyr)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1371812|NM_001388492.1(HTT):c.6577G>A (p.Glu2193Lys)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1372635|NM_001388492.1(HTT):c.5718C>T (p.Val1906=)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1373092|NM_001388492.1(HTT):c.8635C>G (p.Leu2879Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1375378|NM_001388492.1(HTT):c.7444A>G (p.Met2482Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1375604|NM_001388492.1(HTT):c.5616G>C (p.Gln1872His)|single nucleotide variant|Likely benign|HTT|criteria provided, single submitter|4","1375718|NM_001388492.1(HTT):c.1403-1G>C|single nucleotide variant|Likely pathogenic|HTT|criteria provided, single submitter|4","1377016|NM_001388492.1(HTT):c.9325C>T (p.Arg3109Cys)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1377490|NM_001388492.1(HTT):c.385A>G (p.Met129Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1377648|NM_001388492.1(HTT):c.5461C>T (p.Arg1821Trp)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1377934|NM_001388492.1(HTT):c.2099-21_2099-13del|Deletion|Uncertain significance|HTT|criteria provided, single submitter|4","1379002|NM_001388492.1(HTT):c.8693C>T (p.Ser2898Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1379141|NM_001388492.1(HTT):c.1859C>A (p.Ser620Tyr)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1380105|NM_001388492.1(HTT):c.5155A>G (p.Ser1719Gly)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1380682|NM_001388492.1(HTT):c.2712A>G (p.Gln904=)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1383009|NM_001388492.1(HTT):c.2576G>A (p.Ser859Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1383244|NM_001388492.1(HTT):c.5775A>G (p.Gln1925=)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1383868|NM_001388492.1(HTT):c.1993C>T (p.Arg665Cys)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1385406|NM_001388492.1(HTT):c.6040C>T (p.Arg2014Cys)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1385548|NM_001388492.1(HTT):c.619G>C (p.Val207Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1386041|NM_001388492.1(HTT):c.3493A>G (p.Ile1165Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1386427|NM_001388492.1(HTT):c.2359G>A (p.Val787Met)|single nucleotide variant|Likely benign|HTT|criteria provided, single submitter|4","1386437|NM_001388492.1(HTT):c.8753C>G (p.Ala2918Gly)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1386993|NM_001388492.1(HTT):c.3128T>C (p.Leu1043Ser)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1387701|NM_001388492.1(HTT):c.935T>C (p.Leu312Pro)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1388029|NM_001388492.1(HTT):c.5062A>G (p.Thr1688Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1389707|NM_001388492.1(HTT):c.2959T>C (p.Tyr987His)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1392633|NM_001388492.1(HTT):c.6536C>T (p.Thr2179Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1393012|NM_001388492.1(HTT):c.2710C>T (p.Gln904Ter)|single nucleotide variant|Pathogenic|HTT|criteria provided, single submitter|4","1393738|NM_001388492.1(HTT):c.2102T>G (p.Leu701Arg)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1393780|NM_001388492.1(HTT):c.8905T>C (p.Phe2969Leu)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1394970|NM_001388492.1(HTT):c.3567A>T (p.Glu1189Asp)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1395334|NM_001388492.1(HTT):c.2320A>G (p.Thr774Ala)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1395617|NM_001388492.1(HTT):c.3112G>A (p.Val1038Ile)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1395834|NM_001388492.1(HTT):c.7220G>A (p.Ser2407Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1395955|NM_001388492.1(HTT):c.6414+4C>T|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1397228|NM_001388492.1(HTT):c.6025G>A (p.Asp2009Asn)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1397556|NM_001388492.1(HTT):c.5833C>T (p.Arg1945Trp)|single nucleotide variant|Uncertain significance|HTT|criteria provided, multiple submitters, no conflicts|4","1397699|NM_001388492.1(HTT):c.9209C>T (p.Ala3070Val)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4","1399420|NM_001388492.1(HTT):c.1195G>A (p.Gly399Arg)|single nucleotide variant|Uncertain significance|HTT|criteria provided, single submitter|4"]}]}