{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":19,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:427","source":"HGNC:427|ALK receptor tyrosine kinase","targets":["1527803|GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)|copy number loss|Pathogenic|ALK|criteria provided, single submitter|2","18083|NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)|single nucleotide variant|Pathogenic|ALK|criteria provided, multiple submitters, no conflicts|2","18085|NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)|single nucleotide variant|Pathogenic|ALK|criteria provided, single submitter|2","217849|NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217850|NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217851|NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217852|NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217855|NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217856|NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217857|NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","217858|NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","3247472|NC_000002.11:g.(?_29287735)_(29430158_?)del|Deletion|Pathogenic|ALK|criteria provided, single submitter|2","394466|GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3|copy number gain|Pathogenic|ALK|no assertion criteria provided|2","487484|t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)|Inversion|Pathogenic|ALK|no assertion criteria provided|2","545115|NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","562660|GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1|copy number loss|Pathogenic|ALK|no assertion criteria provided|2","627530|t(2;3)(p12;p14.3)|Translocation|Pathogenic|ALK|no assertion criteria provided|","65670|NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)|single nucleotide variant|Pathogenic|ALK|no assertion criteria provided|2","687302|GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1|copy number loss|Pathogenic|ALK|no assertion criteria provided|2"]}]}