{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:3688,10,HGNC:3688,127,4]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3688","source":"HGNC:3688|fibroblast growth factor receptor 1","targets":["1002920|NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1021728|NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1024176|NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1026311|NM_023110.3(FGFR1):c.193A>C (p.Asn65His)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1030825|NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1030826|NM_023110.3(FGFR1):c.358+2T>C|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1030827|NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1033883|NM_002016.2(FLG):c.10849C>T (p.Gln3617Ter)|single nucleotide variant|Likely pathogenic|FLG|criteria provided, single submitter|1","1036826|NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1038021|NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1041985|NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1042561|NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1044306|NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1044770|NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1045264|NM_023110.3(FGFR1):c.746-5C>G|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1046858|NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1050012|NM_002016.2(FLG):c.4960G>C (p.Gly1654Arg)|single nucleotide variant|Uncertain significance|FLG|no assertion criteria provided|1","1050094|NM_002016.2(FLG):c.1020T>A (p.Asp340Glu)|single nucleotide variant|Uncertain significance|FLG|no assertion criteria provided|1","1050112|NM_002016.2(FLG):c.7243C>A (p.Leu2415Ile)|single nucleotide variant|Uncertain significance|FLG|no assertion criteria provided|1","1050470|NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1050667|NM_002016.2(FLG):c.8509G>C (p.Ala2837Pro)|single nucleotide variant|Uncertain significance|FLG|no assertion criteria provided|1","1056617|NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1065343|NM_023110.3(FGFR1):c.745+2T>A|single nucleotide variant|Likely pathogenic|FGFR1|criteria provided, single submitter|8","1065576|NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1074220|NM_023110.3(FGFR1):c.979_983del (p.His327fs)|Deletion|Pathogenic|FGFR1|criteria provided, single submitter|8","1092309|NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1097955|NM_023110.3(FGFR1):c.1977+10G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1102308|NM_023110.3(FGFR1):c.1953C>T (p.Ile651=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1102953|NM_023110.3(FGFR1):c.456T>C (p.Ala152=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1104884|NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1104930|NM_023110.3(FGFR1):c.359-15TTC[2]|Microsatellite|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1107335|NM_023110.3(FGFR1):c.714C>T (p.Ser238=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1108018|NM_023110.3(FGFR1):c.1443C>G (p.Gly481=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1109495|NM_023110.3(FGFR1):c.358+18G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1110123|NM_023110.3(FGFR1):c.405T>C (p.Ser135=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1112445|NM_023110.3(FGFR1):c.2181C>T (p.Asn727=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1141593|NM_023110.3(FGFR1):c.359-9T>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1147192|NM_023110.3(FGFR1):c.786C>T (p.Pro262=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1156684|NM_023110.3(FGFR1):c.789C>T (p.Ala263=)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1168531|NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)|single nucleotide variant|Benign/Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1168692|NM_023110.3(FGFR1):c.449-8C>A|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1169510|NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1178649|NM_023110.3(FGFR1):c.746-77G>A|single nucleotide variant|Benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1178779|NM_023110.3(FGFR1):c.1855-163G>T|single nucleotide variant|Benign|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","1186398|NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1187024|NM_023110.3(FGFR1):c.745+302A>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1187153|NM_023110.3(FGFR1):c.92-10628del|Deletion|Likely benign|FGFR1|criteria provided, single submitter|8","1187468|NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1188551|NM_023110.3(FGFR1):c.2267G>T (p.Arg756Leu)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1189377|NM_023110.3(FGFR1):c.92-10618C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1189713|NM_023110.3(FGFR1):c.622-311G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1190350|NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1190794|NM_023110.3(FGFR1):c.622-300T>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1190860|NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1191386|NM_002016.2(FLG):c.10746C>A (p.His3582Gln)|single nucleotide variant|Likely benign|FLG|criteria provided, single submitter|1","1191755|NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1193753|NM_002016.2(FLG):c.8964C>G (p.Ser2988Arg)|single nucleotide variant|Likely benign|FLG|criteria provided, single submitter|1","1194500|NM_023110.3(FGFR1):c.507G>A (p.Pro169=)|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1194991|NM_023110.3(FGFR1):c.1423C>T (p.Arg475Trp)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1195761|NM_023110.3(FGFR1):c.-88-3663T>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1196038|NM_023110.3(FGFR1):c.535C>T (p.Pro179Ser)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, single submitter|8","1197448|NM_023110.3(FGFR1):c.448+1G>C|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1198063|NM_023110.3(FGFR1):c.2049-13C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1200049|NM_023110.3(FGFR1):c.358+186T>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1202572|NM_023110.3(FGFR1):c.745+271G>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1202808|NM_023110.3(FGFR1):c.1081+55G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1204107|NM_023110.3(FGFR1):c.358+298C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1204382|NM_023110.3(FGFR1):c.1663+341T>C|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1204911|NM_023110.3(FGFR1):c.359-54G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1206102|NM_002016.2(FLG):c.4240G>A (p.Gly1414Arg)|single nucleotide variant|Benign/Likely benign|FLG|no assertion criteria provided|1","1206155|NM_023110.3(FGFR1):c.1388A>G (p.Tyr463Cys)|single nucleotide variant|Uncertain significance|FGFR1|no assertion criteria provided|8","1208776|NM_023110.3(FGFR1):c.962_963del (p.Lys321fs)|Deletion|Pathogenic|FGFR1|criteria provided, multiple submitters, no conflicts|8","1208953|NM_023110.3(FGFR1):c.1284+256del|Deletion|Likely benign|FGFR1|criteria provided, single submitter|8","1209336|NM_023110.3(FGFR1):c.91+57G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1209349|NM_023110.3(FGFR1):c.1978-13G>A|single nucleotide variant|Likely benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1210648|NM_023110.3(FGFR1):c.936+113C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1212174|NM_002016.2(FLG):c.9061G>T (p.Gly3021Ter)|single nucleotide variant|Pathogenic|FLG|criteria provided, single submitter|1","1212943|NM_023110.3(FGFR1):c.1936C>T (p.Arg646Trp)|single nucleotide variant|Likely pathogenic|FGFR1|criteria provided, single submitter|8","1215067|NM_023110.3(FGFR1):c.937-314C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1216790|NM_023110.3(FGFR1):c.-88-3829C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1216864|NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1218904|NM_023110.3(FGFR1):c.1855-24C>T|single nucleotide variant|Likely benign|FGFR1|criteria provided, single submitter|8","1219296|NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val)|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1220137|NM_023110.3(FGFR1):c.2049-12G>A|single nucleotide variant|Conflicting classifications of pathogenicity|FGFR1|criteria provided, conflicting classifications|8","1221761|NM_023110.3(FGFR1):c.92-287_92-286insTGATC|Insertion|Benign|FGFR1|criteria provided, single submitter|8","1224344|NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1226187|NM_023110.3(FGFR1):c.936+46A>T|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1231058|NM_023110.3(FGFR1):c.359-272C>T|single nucleotide variant|Benign|FGFR1|criteria provided, multiple submitters, no conflicts|8","1231552|NM_023110.3(FGFR1):c.*66G>A|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1239576|NM_023110.3(FGFR1):c.622-25G>C|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1248746|NM_023110.3(FGFR1):c.2293-6T>C|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1251648|NM_002016.2(FLG):c.10735A>G (p.Thr3579Ala)|single nucleotide variant|Benign|FLG|criteria provided, single submitter|1","1254610|NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1254807|NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)|single nucleotide variant|Uncertain significance|FGFR1|criteria provided, multiple submitters, no conflicts|8","1260825|NM_023110.3(FGFR1):c.937-77T>C|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1261961|NM_023110.3(FGFR1):c.746-272A>C|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1262047|NM_023110.3(FGFR1):c.449-25G>C|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8","1265418|NM_002016.2(FLG):c.10734C>T (p.Pro3578=)|single nucleotide variant|Benign|FLG|criteria provided, single submitter|1","1266581|NM_023110.3(FGFR1):c.359-89G>A|single nucleotide variant|Benign|FGFR1|criteria provided, single submitter|8"]}]}