{"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:76,10,HGNC:76,117,0]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:76","source":"HGNC:76|ABL proto-oncogene 1, non-receptor tyrosine kinase","targets":["1029154|NM_005157.6(ABL1):c.2351C&gt;T (p.Pro784Leu)|single nucleotide variant|Likely pathogenic|ABL1|criteria provided, single submitter|9","1034373|NM_005157.6(ABL1):c.3109G&gt;C (p.Glu1037Gln)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1034374|NM_005157.6(ABL1):c.635C&gt;T (p.Thr212Met)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1105298|NM_005157.6(ABL1):c.2969C&gt;T (p.Ser990Leu)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1184856|NM_005157.6(ABL1):c.1388G&gt;A (p.Gly463Asp)|single nucleotide variant|Pathogenic|ABL1|criteria provided, single submitter|9","1244779|NM_005157.6(ABL1):c.2940C&gt;T (p.Pro980=)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","12624|NM_005157.6(ABL1):c.944C&gt;T (p.Thr315Ile)|single nucleotide variant|Likely pathogenic; association|ABL1|criteria provided, multiple submitters, no conflicts|9","12625|NM_005157.6(ABL1):c.707A&gt;T (p.Glu236Val)|single nucleotide variant|Pathogenic|ABL1|no assertion criteria provided|9","12626|NM_005157.6(ABL1):c.706G&gt;A (p.Glu236Lys)|single nucleotide variant|Pathogenic|ABL1|no assertion criteria provided|9","12627|NM_005157.6(ABL1):c.757T&gt;C (p.Tyr253His)|single nucleotide variant|Pathogenic|ABL1|no assertion criteria provided|9","12628|NM_005157.6(ABL1):c.931T&gt;C (p.Phe311Leu)|single nucleotide variant|Pathogenic|ABL1|no assertion criteria provided|9","12629|NM_005157.6(ABL1):c.1052T&gt;C (p.Met351Thr)|single nucleotide variant|Pathogenic|ABL1|no assertion criteria provided|9","1299786|NM_005157.6(ABL1):c.2205G&gt;A (p.Thr735=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1301303|NM_005157.6(ABL1):c.3324A&gt;G (p.Pro1108=)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1316382|NM_005157.6(ABL1):c.2327C&gt;T (p.Thr776Ile)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1316639|NM_005157.6(ABL1):c.1261G&gt;A (p.Asp421Asn)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, multiple submitters, no conflicts|9","1318667|NM_005157.6(ABL1):c.3002C&gt;T (p.Ala1001Val)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, multiple submitters, no conflicts|9","1318941|NM_005157.6(ABL1):c.1447C&gt;T (p.Arg483Trp)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1320190|NM_005157.6(ABL1):c.1190C&gt;T (p.Ala397Val)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1320952|NM_005157.6(ABL1):c.116C&gt;G (p.Pro39Arg)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1333299|NM_005157.6(ABL1):c.2351C&gt;G (p.Pro784Arg)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1333404|NM_005157.6(ABL1):c.1378C&gt;A (p.Arg460Ser)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","133434|NM_005157.6(ABL1):c.2009A&gt;G (p.Asn670Ser)|single nucleotide variant|Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133435|NM_005157.6(ABL1):c.2626A&gt;G (p.Arg876Gly)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133436|NM_005157.6(ABL1):c.1736C&gt;T (p.Pro579Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","133437|NM_005157.6(ABL1):c.2143C&gt;T (p.Arg715Cys)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133438|NM_005157.6(ABL1):c.2350C&gt;G (p.Pro784Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|ABL1|criteria provided, conflicting classifications|9","133439|NM_005157.6(ABL1):c.2416C&gt;A (p.Pro806Thr)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133440|NM_005157.6(ABL1):c.2429C&gt;T (p.Pro810Leu)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133441|NM_005157.6(ABL1):c.2494C&gt;A (p.His832Asn)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133442|NM_005157.6(ABL1):c.2882C&gt;T (p.Pro961Leu)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","133443|NM_005157.6(ABL1):c.2915C&gt;T (p.Ser972Leu)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133444|NM_005157.6(ABL1):c.1766G&gt;A (p.Arg589His)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133445|NM_005157.6(ABL1):c.2116G&gt;A (p.Gly706Ser)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133446|NM_005157.6(ABL1):c.2581G&gt;A (p.Ala861Thr)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","133447|NM_005157.6(ABL1):c.2930G&gt;A (p.Ser977Asn)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133448|NM_005157.6(ABL1):c.128G&gt;A (p.Ser43Asn)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133449|NM_005157.6(ABL1):c.287A&gt;G (p.Asn96Ser)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133450|NM_005157.6(ABL1):c.740A&gt;G (p.Lys247Arg)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","133451|NM_005157.6(ABL1):c.808G&gt;T (p.Val270Leu)|single nucleotide variant|not provided|ABL1|no classification provided|9","133452|NM_005157.6(ABL1):c.1417C&gt;G (p.Arg473Gly)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","133453|NM_005157.6(ABL1):c.1418G&gt;A (p.Arg473Gln)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1351561|NM_005157.6(ABL1):c.556G&gt;A (p.Val186Ile)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1357715|NM_005157.6(ABL1):c.930G&gt;A (p.Pro310=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1359061|NM_005157.6(ABL1):c.3101A&gt;C (p.Asp1034Ala)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1361462|NM_005157.6(ABL1):c.2483C&gt;T (p.Ser828Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1366865|NM_005157.6(ABL1):c.2933C&gt;T (p.Pro978Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1367947|NM_005157.6(ABL1):c.1940C&gt;T (p.Ala647Val)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1368017|NM_005157.6(ABL1):c.2029G&gt;A (p.Gly677Arg)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, multiple submitters, no conflicts|9","1371702|NM_005157.6(ABL1):c.2867A&gt;G (p.Lys956Arg)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1371850|NC_000009.11:g.(?_133327616)_(133589862_?)dup|Duplication|Uncertain significance|ABL1|criteria provided, single submitter|9","1383048|NM_005157.6(ABL1):c.2804C&gt;T (p.Thr935Met)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1387610|NM_005157.6(ABL1):c.2873C&gt;T (p.Pro958Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1388113|NM_005157.6(ABL1):c.777C&gt;T (p.Gly259=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1395314|NM_005157.6(ABL1):c.1888C&gt;T (p.Arg630Cys)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1396097|NM_005157.6(ABL1):c.2949_2951del (p.Thr984del)|Deletion|Uncertain significance|ABL1|criteria provided, single submitter|9","1411814|NC_000009.11:g.(?_133573529)_(133589862_?)del|Deletion|Uncertain significance|ABL1|criteria provided, single submitter|9","1412101|NM_005157.6(ABL1):c.2572G&gt;A (p.Gly858Ser)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1412648|NM_005157.6(ABL1):c.1985C&gt;T (p.Pro662Leu)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1420152|NM_005157.6(ABL1):c.2358G&gt;A (p.Leu786=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1422749|NM_005157.6(ABL1):c.2164G&gt;A (p.Val722Ile)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1431668|NM_005157.6(ABL1):c.2089C&gt;T (p.Arg697Cys)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1432836|NM_005157.6(ABL1):c.1624A&gt;G (p.Arg542Gly)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1448480|NM_005157.6(ABL1):c.2710G&gt;A (p.Ala904Thr)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1450318|NM_005157.6(ABL1):c.437A&gt;G (p.Asn146Ser)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1450798|NM_005157.6(ABL1):c.991A&gt;G (p.Asn331Asp)|single nucleotide variant|Conflicting classifications of pathogenicity|ABL1|criteria provided, conflicting classifications|9","1457508|NM_005157.6(ABL1):c.2154C&gt;T (p.Ser718=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1460700|NM_005157.6(ABL1):c.2906C&gt;A (p.Ala969Asp)|single nucleotide variant|Benign/Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1463675|NM_005157.6(ABL1):c.3169C&gt;T (p.Leu1057=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1469549|NM_005157.6(ABL1):c.109T&gt;G (p.Phe37Val)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1470023|NM_005157.6(ABL1):c.1513+19_1513+20insCACC|Insertion|Likely benign|ABL1|criteria provided, single submitter|9","1473626|NM_005157.6(ABL1):c.2746C&gt;A (p.Gln916Lys)|single nucleotide variant|Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1477252|NM_005157.6(ABL1):c.719C&gt;T (p.Thr240Met)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1480465|NM_005157.6(ABL1):c.2759A&gt;G (p.Gln920Arg)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1481454|NM_005157.6(ABL1):c.933C&gt;A (p.Phe311Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","148707|GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3|copy number gain|Uncertain significance|ABL1|no assertion criteria provided|9","1488448|NM_005157.6(ABL1):c.473C&gt;T (p.Pro158Leu)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1493549|NM_005157.6(ABL1):c.311C&gt;G (p.Thr104Ser)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, multiple submitters, no conflicts|9","1497282|NM_005157.6(ABL1):c.3001G&gt;A (p.Ala1001Thr)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1498234|NM_005157.6(ABL1):c.2246C&gt;T (p.Ser749Leu)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1505395|NM_005157.6(ABL1):c.728C&gt;A (p.Thr243Asn)|single nucleotide variant|Uncertain significance|ABL1|criteria provided, single submitter|9","1530433|NM_005157.6(ABL1):c.3258C&gt;T (p.Ala1086=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1532634|NM_005157.6(ABL1):c.2418G&gt;A (p.Pro806=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1534859|NM_005157.6(ABL1):c.2520T&gt;C (p.Ser840=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1536192|NM_005157.6(ABL1):c.351G&gt;A (p.Thr117=)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1536286|NM_005157.6(ABL1):c.2883G&gt;A (p.Pro961=)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1540716|NM_005157.6(ABL1):c.550-7C&gt;T|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1543109|NM_005157.6(ABL1):c.1476C&gt;T (p.Ala492=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1550464|NM_005157.6(ABL1):c.3045C&gt;G (p.Thr1015=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1551522|NM_005157.6(ABL1):c.1512C&gt;T (p.Asp504=)|single nucleotide variant|Benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1553737|NM_005157.6(ABL1):c.1679-11T&gt;C|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1555155|NM_005157.6(ABL1):c.589G&gt;A (p.Glu197Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|ABL1|criteria provided, conflicting classifications|9","1558247|NM_005157.6(ABL1):c.1260C&gt;T (p.Ser420=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1567710|NM_005157.6(ABL1):c.807C&gt;T (p.Ala269=)|single nucleotide variant|Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1570129|NM_005157.6(ABL1):c.995G&gt;A (p.Arg332Gln)|single nucleotide variant|Benign|ABL1|criteria provided, single submitter|9","1577976|NM_005157.6(ABL1):c.2652G&gt;A (p.Ser884=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1582399|NM_005157.6(ABL1):c.1521A&gt;G (p.Glu507=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1583885|NM_005157.6(ABL1):c.378C&gt;T (p.Ser126=)|single nucleotide variant|Likely benign|ABL1|criteria provided, single submitter|9","1587266|NM_005157.6(ABL1):c.2744C&gt;T (p.Ser915Leu)|single nucleotide variant|Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9","1589007|NM_005157.6(ABL1):c.92G&gt;A (p.Arg31Gln)|single nucleotide variant|Likely benign|ABL1|criteria provided, multiple submitters, no conflicts|9"]}]}