{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":36,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3690","source":"HGNC:3690|fibroblast growth factor receptor 3","targets":["1065490|NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","1526266|NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","156545|NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","16327|NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16328|NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16329|NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16330|NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","16331|NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16332|NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16333|NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16334|NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16335|NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16336|NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","16337|NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16339|NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16341|NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16342|NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16343|t(4;14)(p16.3;q32.3)|Translocation|Pathogenic|FGFR3|no assertion criteria provided|","16346|NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","16348|NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16351|NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","16352|NM_000142.5(FGFR3):c.850del (p.His284fs)|Deletion|Pathogenic|FGFR3|no assertion criteria provided|4","16355|NM_000142.5(FGFR3):c.1862G>A (p.Arg621His)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","16356|NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","16359|NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","1680030|NM_000142.5(FGFR3):c.791C>T (p.Thr264Met)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","1680033|NM_000142.5(FGFR3):c.802G>T (p.Gly268Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","2582275|NM_000142.5(FGFR3):c.1196G>A (p.Arg399His)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","2582277|NM_000142.5(FGFR3):c.1910G>A (p.Gly637Glu)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","2582278|NM_000142.5(FGFR3):c.2089G>A (p.Gly697Ser)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","649812|NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","65562|NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","65563|NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, single submitter|4","65826|NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys)|single nucleotide variant|Pathogenic|FGFR3|no assertion criteria provided|4","65855|NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4","994395|NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser)|single nucleotide variant|Pathogenic|FGFR3|criteria provided, multiple submitters, no conflicts|4"]}]}