{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":37,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6342","source":"HGNC:6342|KIT proto-oncogene, receptor tyrosine kinase","targets":["1067561|NM_000222.3(KIT):c.1232-1G>A|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","13849|NM_000222.3(KIT):c.1747G>A (p.Glu583Lys)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","1506224|NC_000004.11:g.(?_55569880)_(55575715_?)dup|Duplication|Likely pathogenic|KIT|criteria provided, single submitter|4","1509906|NM_000222.3(KIT):c.1540+1G>A|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","1516247|NM_000222.3(KIT):c.1541-1G>A|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","1718828|NM_000222.3(KIT):c.2494C>T (p.Pro832Ser)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","2035526|NM_000222.3(KIT):c.2142-1G>A|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","2036388|NM_000222.3(KIT):c.1540+2del|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","2129188|NM_000222.3(KIT):c.1540+1G>T|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","222957|NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del)|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","2422605|NC_000004.11:g.(?_55575570)_(55598184_?)dup|Duplication|Likely pathogenic|KIT|criteria provided, single submitter|4","2579851|NM_000222.3(KIT):c.2422A>T (p.Ile808Phe)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","2749186|NM_000222.3(KIT):c.2648T>C (p.Ile883Thr)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","2770541|NM_000222.3(KIT):c.757-2A>T|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","3065265|NM_000222.3(KIT):c.1823C>A (p.Ala608Asp)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","3067845|NM_000222.3(KIT):c.1774+1G>T|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","3246593|NC_000004.11:g.(?_55569966)_(55570700_?)del|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","3647912|NM_000222.3(KIT):c.2142-2A>G|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","375914|NM_000222.3(KIT):c.1679T>A (p.Val560Asp)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","375924|NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","375933|NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","3899876|NM_000222.3(KIT):c.745_746del (p.Glu249fs)|Microsatellite|Likely pathogenic|KIT|criteria provided, single submitter|4","3901185|NM_000222.3(KIT):c.1647G>C (p.Gln549His)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","393590|NM_000222.3(KIT):c.2000T>G (p.Leu667Arg)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","620302|NM_000222.3(KIT):c.1279C>T (p.Gln427Ter)|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","627637|NM_000222.3(KIT):c.1652_1672del (p.Pro551_Lys558delinsGln)|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","627638|NM_000222.3(KIT):c.1653_1660delinsAA (p.Met552_Glu554delinsLys)|Indel|Likely pathogenic|KIT|criteria provided, single submitter|4","627639|NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del)|Indel|Likely pathogenic|KIT|criteria provided, single submitter|4","627640|NM_000222.3(KIT):c.1668_1686del (p.Gln556_Trp557insTer)|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","627641|NM_000222.3(KIT):c.1676_1720del (p.Val559_Thr574delinsAla)|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","627642|NM_000222.3(KIT):c.1715_1756dup (p.Pro585_Arg586insAsnProThrGlnLeuProTyrAspHisLysTrpGluPhePro)|Duplication|Likely pathogenic|KIT|criteria provided, single submitter|4","627643|NM_000222.3(KIT):c.1721_1765dup (p.Arg588_Leu589insProGlnLeuProTyrAspHisLysTrpGluPheProArgAsnArg)|Duplication|Likely pathogenic|KIT|criteria provided, single submitter|4","627644|NM_000222.3(KIT):c.1722_1766dup (p.Gln575_Leu589dup)|Duplication|Likely pathogenic|KIT|criteria provided, single submitter|4","639481|NM_000222.3(KIT):c.1775-2A>G|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","664383|NM_000222.3(KIT):c.2362-1G>A|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4","958702|NM_000222.3(KIT):c.840_925+649del|Deletion|Likely pathogenic|KIT|criteria provided, single submitter|4","963726|NM_000222.3(KIT):c.1540+2T>C|single nucleotide variant|Likely pathogenic|KIT|criteria provided, single submitter|4"]}]}