{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":69,"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":["1071467|NM_000222.3(KIT):c.1126G>T (p.Glu376Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","1299653|NM_000222.3(KIT):c.2415_2422del (p.Thr806fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","1331201|NM_000222.3(KIT):c.120_123dup (p.Gly42fs)|Microsatellite|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","1331512|NM_000222.3(KIT):c.21_22del (p.Trp8fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","1368363|NM_000222.3(KIT):c.1000_1003dup (p.Val335fs)|Duplication|Pathogenic|KIT|criteria provided, single submitter|4","13843|NM_000222.3(KIT):c.1990G>A (p.Gly664Arg)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13844|NC_000004.12:g.(?_54229292)_(54740716_)del|Deletion|Pathogenic|KIT|no assertion criteria provided|","13846|NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del)|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13847|NM_000222.3(KIT):c.1925_1926del (p.Lys642fs)|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13848|NM_000222.3(KIT):c.1681dup (p.Glu561fs)|Duplication|Pathogenic|KIT|no assertion criteria provided|4","13850|NM_000222.3(KIT):c.253del (p.Glu85fs)|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13851|NM_000222.3(KIT):c.1879+1G>A|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","13854|NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del)|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13855|NM_000222.3(KIT):c.1649_1663del (p.Lys550_Val555delinsIle)|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13856|NM_000222.3(KIT):c.1676T>A (p.Val559Asp)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13857|NC_000004.12:g.54727416_54727442del|Deletion|Pathogenic|KIT|no assertion criteria provided|4","13858|NM_000222.3(KIT):c.2386A>G (p.Arg796Gly)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13861|NM_000222.3(KIT):c.2539A>C (p.Thr847Pro)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13862|NM_000222.3(KIT):c.2515G>A (p.Glu839Lys)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13863|NM_000222.3(KIT):c.2446G>C (p.Asp816His)|single nucleotide variant|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","13864|NM_000222.3(KIT):c.1751T>G (p.Phe584Cys)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","13866|NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)|single nucleotide variant|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","1405140|NM_000222.3(KIT):c.364del (p.Arg122fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","1450203|NM_000222.3(KIT):c.2080C>T (p.Gln694Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","1451251|NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","1451608|NM_000222.3(KIT):c.1666C>T (p.Gln556Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","1452413|NM_000222.3(KIT):c.366_369del (p.Ser123fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2033857|NM_000222.3(KIT):c.761_765del (p.Lys254fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2043850|NM_000222.3(KIT):c.32_33insG (p.Cys12fs)|Insertion|Pathogenic|KIT|criteria provided, single submitter|4","2126350|NM_000222.3(KIT):c.828_832dup (p.Ser278fs)|Duplication|Pathogenic|KIT|criteria provided, single submitter|4","2203546|NM_000222.3(KIT):c.2139del (p.Cys714fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2422604|NC_000004.11:g.(?_55569880)_(55570068_?)del|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2442396|NM_000222.3(KIT):c.237del (p.Asn80fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2706578|NM_000222.3(KIT):c.1494del (p.Lys499fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2757884|NM_000222.3(KIT):c.86_87del (p.Val29fs)|Microsatellite|Pathogenic|KIT|criteria provided, single submitter|4","2770878|NM_000222.3(KIT):c.2446_2447del (p.Asp816fs)|Microsatellite|Pathogenic|KIT|criteria provided, single submitter|4","280912|NM_000222.3(KIT):c.2591_2594del (p.Phe863_Ser864insTer)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2817055|NM_000222.3(KIT):c.1253_1254insAA (p.Tyr418Ter)|Insertion|Pathogenic|KIT|criteria provided, single submitter|4","2849144|NM_000222.3(KIT):c.959del (p.Asn320fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","2865541|NM_000222.3(KIT):c.673del (p.Glu225fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","3014468|NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","3066083|NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","3246589|NC_000004.11:g.(?_55522488)_(55524258_?)del|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","3246590|NC_000004.11:g.(?_55602654)_(55604723_?)del|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","3342507|NM_000222.3(KIT):c.2484+1G>A|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","35502|NM_000222.3(KIT):c.1859T>C (p.Val620Ala)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","3638245|NM_000222.3(KIT):c.2514_2515dup (p.Glu839fs)|Duplication|Pathogenic|KIT|criteria provided, single submitter|4","3698398|NM_000222.3(KIT):c.1281dup (p.Cys428fs)|Duplication|Pathogenic|KIT|criteria provided, single submitter|4","3720578|NM_000222.3(KIT):c.1036C>T (p.Gln346Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","3723088|NM_000222.3(KIT):c.2204_2205insCATAA (p.Lys735fs)|Insertion|Pathogenic|KIT|criteria provided, single submitter|4","3727950|NM_000222.3(KIT):c.817_833del (p.Ala273fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","375913|NM_000222.3(KIT):c.1676TTG[1] (p.Val560del)|Microsatellite|Pathogenic|KIT|no assertion criteria provided|4","375923|NM_000222.3(KIT):c.1965T>A (p.Asn655Lys)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","375928|NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr)|single nucleotide variant|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","375930|NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","4292892|NM_000222.3(KIT):c.1880-1G>A|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","441548|GRCh37/hg19 4q12(chr4:55587786-55614038)x1|copy number loss|Pathogenic|KIT|no assertion criteria provided|4","4538531|NM_000222.3(KIT):c.2424T>G (p.Ile808Met)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","458850|NM_000222.3(KIT):c.108_109insT (p.Pro37fs)|Insertion|Pathogenic|KIT|criteria provided, single submitter|4","458885|NM_000222.3(KIT):c.1670G>A (p.Trp557Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","4645631|NM_000222.3(KIT):c.2062del (p.Ser688fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","545643|NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)|single nucleotide variant|Pathogenic|KIT|no assertion criteria provided|4","569047|NM_000222.3(KIT):c.389del (p.Asn130fs)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","580901|NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer)|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","583798|NC_000004.11:g.(?_55524176)_(55604729_?)del|Deletion|Pathogenic|KIT|criteria provided, single submitter|4","648178|NM_000222.3(KIT):c.756+1G>A|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","651292|NM_000222.3(KIT):c.1526A>T (p.Lys509Ile)|single nucleotide variant|Pathogenic|KIT|criteria provided, single submitter|4","949598|NM_000222.3(KIT):c.568C>T (p.Gln190Ter)|single nucleotide variant|Pathogenic|KIT|criteria provided, multiple submitters, no conflicts|4","960325|NM_000222.3(KIT):c.1168dup (p.Tyr390fs)|Duplication|Pathogenic|KIT|criteria provided, single submitter|4"]}]}