{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:3688,10,HGNC:3688,173,18]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3688","source":"HGNC:3688|fibroblast growth factor receptor 1","targets":["1074220|NM_023110.3(FGFR1):c.979_983del (p.His327fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","1184446|NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","1208776|NM_023110.3(FGFR1):c.962_963del (p.Lys321fs)|Deletion|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","1212174|NM_002016.2(FLG):c.9061G>T (p.Gly3021Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","1299865|NM_002016.2(FLG):c.1378G>T (p.Glu460Ter)|single nucleotide variant|Pathogenic|FLG|no assertion criteria provided|1","1325967|NM_002016.2(FLG):c.1685C>A (p.Ser562Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","132646|NM_023110.3(FGFR1):c.790A>C (p.Asn264His)|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","132647|NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","132648|NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","1338306|NM_023110.3(FGFR1):c.2223del (p.Ser742fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","1338919|NM_023110.3(FGFR1):c.2187-1G>A|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","1341672|NM_023110.3(FGFR1):c.1855-1G>A|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","1342082|NM_002016.2(FLG):c.482_485del (p.Arg161fs)|Microsatellite|Pathogenic|FLG|criteria provided, single submitter|1","1418780|NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","16279|NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","16285|NM_023110.3(FGFR1):c.499G>T (p.Ala167Ser)|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","16296|NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","16300|NM_023110.3(FGFR1):c.2164C>T (p.Pro722Ser)|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","16301|NM_023110.3(FGFR1):c.2292G>T (p.Gln764His)|single nucleotide variant|Pathogenic|FGFR1|no assertion criteria provided|8","16303|NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","1691654|NM_002016.2(FLG):c.9683_9684del (p.Asp3227_Ser3228insTer)|Microsatellite|Pathogenic|FLG|criteria provided, single submitter|1","1709350|NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","1801171|NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)|Deletion|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","1997422|NM_023110.3(FGFR1):c.111del (p.Val38fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2011123|NM_023110.3(FGFR1):c.625del (p.Arg209fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2029325|NM_023110.3(FGFR1):c.780del (p.Leu261fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2097346|NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2105298|NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2136660|NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2136661|NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","224896|NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","224897|NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","235084|NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2426796|NC_000008.10:g.(?_38314854)_(38314964_?)del|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505374|NM_023110.3(FGFR1):c.165_171del (p.Arg56fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505375|NM_023110.3(FGFR1):c.355dup (p.Ser119fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505376|NM_023110.3(FGFR1):c.551dup (p.Asn185fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505377|NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505378|NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505379|NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505380|NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505381|NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505382|NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505383|NM_023110.3(FGFR1):c.1081+1G>T|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505384|NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505385|NM_023110.3(FGFR1):c.1285-2A>G|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505386|NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505387|NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505388|NM_023110.3(FGFR1):c.1430+1del|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505389|NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs)|Insertion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505391|NM_023110.3(FGFR1):c.1553-2A>G|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505392|NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505393|NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505394|NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505395|NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505396|NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505397|NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505398|NM_023110.3(FGFR1):c.1854+1G>A|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505399|NM_023110.3(FGFR1):c.1855-2A>C|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505400|NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505402|NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505403|NM_023110.3(FGFR1):c.2036del (p.His679fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505404|NM_023110.3(FGFR1):c.2058del (p.Phe686fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505405|NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505407|NM_023110.3(FGFR1):c.2293-1G>T|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505426|NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505443|NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505459|NM_023110.3(FGFR1):c.70del (p.Ser24fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2505460|NM_023110.3(FGFR1):c.92-1G>T|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2505461|NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2505462|NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2571313|NM_023110.3(FGFR1):c.101G>A (p.Trp34Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","265428|NM_023110.3(FGFR1):c.1864C>G (p.Arg622Gly)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","280555|NM_002016.2(FLG):c.4786C>T (p.Gln1596Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","280606|NM_023110.3(FGFR1):c.1431-1G>A|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2921666|NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2948865|NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2949496|NM_023110.3(FGFR1):c.1946del (p.His649fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2949499|NM_023110.3(FGFR1):c.1948del (p.His650fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","2949673|NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","2949952|NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","2953540|NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","3064126|NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","3253559|NM_023110.3(FGFR1):c.2166del (p.Ser723fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","3347162|NM_023110.3(FGFR1):c.1569_1572del (p.Lys523fs)|Deletion|Pathogenic|FGFR1|no assertion criteria provided|8","3374752|NM_023110.3(FGFR1):c.1716C>G (p.Tyr572Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","3377156|NM_023110.3(FGFR1):c.1761_1777del (p.Ser588fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","3382235|NM_023110.3(FGFR1):c.206_210dup (p.Val71fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","372768|NM_002016.2(FLG):c.4004_4005del (p.Glu1335fs)|Microsatellite|Pathogenic|FLG|criteria provided, single submitter|1","373097|NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","373103|NM_023110.3(FGFR1):c.1764_1774del (p.Ser588fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","3754529|NM_023110.3(FGFR1):c.818_819dup (p.Glu274fs)|Duplication|Pathogenic|FGFR1|criteria provided, single submitter|8","3755044|NM_023110.3(FGFR1):c.345_348del (p.Val116fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","3758303|NM_023110.3(FGFR1):c.1882A>G (p.Asn628Asp)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","3759428|NM_023110.3(FGFR1):c.1231C>T (p.Gln411Ter)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","377227|NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","3777386|NM_002016.2(FLG):c.8287C>T (p.Gln2763Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","379237|NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly)|single nucleotide variant|Pathogenic|FGFR1|criteria provided, single submitter|8","3911095|NM_023110.3(FGFR1):c.91+1_91+6del|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","397530|NM_023110.3(FGFR1):c.1711del (p.Glu571fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8"]}]}