{"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:1884,10,HGNC:1884,37,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1884","source":"HGNC:1884|CF transmembrane conductance regulator","targets":["1000823|NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1002760|NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1003660|NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1007213|NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1009171|NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1009391|NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1009463|NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1010196|NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1011536|NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1012571|NM_000492.4(CFTR):c.744-9G>T|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1012572|NM_000492.4(CFTR):c.744-7_744-4del|Deletion|Uncertain significance|CFTR|criteria provided, single submitter|7","1018653|NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1018890|NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1024644|NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1027585|NM_000492.4(CFTR):c.1585-2A>T|single nucleotide variant|Pathogenic/Likely pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1027591|NM_000492.4(CFTR):c.1680-893T>C|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1029874|NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1029875|NM_000492.4(CFTR):c.407T>G (p.Leu136Arg)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1029876|NM_000492.4(CFTR):c.490-25A>G|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1035472|NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1036122|NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1037205|NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1038737|NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1039311|NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1040997|NM_000492.4(CFTR):c.1077A>G (p.Gln359=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1042311|NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1043026|NM_000492.4(CFTR):c.1210-12_1210-11insGTG|Insertion|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1043398|NM_000492.4(CFTR):c.1178T>G (p.Val393Gly)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1044113|NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1044502|NM_000492.4(CFTR):c.2764G>A (p.Val922Ile)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1046296|NM_000492.4(CFTR):c.489+5T>C|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1048778|NM_000492.4(CFTR):c.89dup (p.Arg31fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1051107|NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1052121|NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile)|single nucleotide variant|Likely pathogenic|CFTR|criteria provided, single submitter|7","1052165|NM_000492.4(CFTR):c.851T>C (p.Met284Thr)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, single submitter|7","1053721|NM_000492.4(CFTR):c.508C>A (p.Arg170Ser)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1053748|NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1054952|NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1055358|NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1060053|NM_000492.4(CFTR):c.1685T>C (p.Val562Ala)|single nucleotide variant|Uncertain significance|CFTR|criteria provided, multiple submitters, no conflicts|7","1060935|NC_000007.13:g.(?_117118376)_(117307162_?)dup|Duplication|Uncertain significance|CFTR|criteria provided, single submitter|7","1064636|NM_000492.4(CFTR):c.878T>C (p.Leu293Pro)|single nucleotide variant|Uncertain significance|CFTR|no assertion criteria provided|7","1065566|NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter)|single nucleotide variant|Likely pathogenic|CFTR|criteria provided, single submitter|7","1065569|NM_000492.4(CFTR):c.274-8558G>A|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1065570|NM_000492.4(CFTR):c.54-6168A>G|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1067529|NC_000007.13:g.(?_117267556)_(117267869_?)del|Deletion|Likely pathogenic|CFTR|criteria provided, single submitter|7","1067530|NC_000007.13:g.(?_117282468)_(117288374_?)del|Deletion|Likely pathogenic|CFTR|criteria provided, single submitter|7","1067531|NC_000007.13:g.(?_117170943)_(117171255_?)del|Deletion|Likely pathogenic|CFTR|criteria provided, single submitter|7","1067958|NC_000007.13:g.(?_117144294)_(117254777_?)dup|Duplication|Likely pathogenic|CFTR|criteria provided, single submitter|7","1069281|NM_000492.4(CFTR):c.2560dup (p.Thr854fs)|Duplication|Pathogenic|CFTR|criteria provided, single submitter|7","1069526|NM_000492.4(CFTR):c.489+1G>A|single nucleotide variant|Pathogenic|CFTR|criteria provided, single submitter|7","1069549|NM_000492.4(CFTR):c.300_301del (p.Leu101fs)|Microsatellite|Pathogenic|CFTR|criteria provided, single submitter|7","1070381|NC_000007.13:g.(?_117304664)_(117306195_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1070382|NC_000007.13:g.(?_117174320)_(117176752_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1070544|NM_000492.4(CFTR):c.4340del (p.Val1447fs)|Deletion|Pathogenic/Likely pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1073653|NM_000492.4(CFTR):c.1573del (p.Gln525fs)|Deletion|Pathogenic|CFTR|criteria provided, multiple submitters, no conflicts|7","1074249|NC_000007.13:g.(?_117218381)_(117254777_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1074251|NC_000007.13:g.(?_117246713)_(117251872_?)del|Deletion|Pathogenic|CFTR|criteria provided, single submitter|7","1077681|NM_000492.4(CFTR):c.45T>G (p.Leu15=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1077742|NM_000492.4(CFTR):c.27C>T (p.Ala9=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1077964|NM_000492.4(CFTR):c.1766+11del|Deletion|Likely benign|CFTR|criteria provided, single submitter|7","1078247|NM_000492.4(CFTR):c.1704G>A (p.Leu568=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1078712|NM_000492.4(CFTR):c.2697A>G (p.Arg899=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1078840|NM_000492.4(CFTR):c.1170A>C (p.Thr390=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1078903|NM_000492.4(CFTR):c.2658-8C>T|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1079153|NM_000492.4(CFTR):c.1074A>G (p.Val358=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1079547|NM_000492.4(CFTR):c.3681A>G (p.Leu1227=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1080303|NM_000492.4(CFTR):c.1711T>C (p.Leu571=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1081060|NM_000492.4(CFTR):c.3555C>T (p.Gly1185=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1081105|NM_000492.4(CFTR):c.1041C>G (p.Arg347=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1081480|NM_000492.4(CFTR):c.2007C>T (p.Phe669=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1081930|NM_000492.4(CFTR):c.1290C>T (p.Phe430=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1082294|NM_000492.4(CFTR):c.2694T>C (p.Ser898=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1082339|NM_000492.4(CFTR):c.2181T>C (p.Asp727=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1082501|NM_000492.4(CFTR):c.2289A>G (p.Ala763=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1083516|NM_000492.4(CFTR):c.1926A>C (p.Ser642=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1083567|NM_000492.4(CFTR):c.2620-15C>T|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1083700|NM_000492.4(CFTR):c.3324C>A (p.Val1108=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1084240|NM_000492.4(CFTR):c.869+7T>C|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1085261|NM_000492.4(CFTR):c.4326C>T (p.Ser1442=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1085544|NM_000492.4(CFTR):c.1767-7C>T|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1085746|NM_000492.4(CFTR):c.882A>G (p.Lys294=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1086609|NM_000492.4(CFTR):c.906G>C (p.Val302=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1087383|NM_000492.4(CFTR):c.1026C>T (p.Phe342=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1087818|NM_000492.4(CFTR):c.54-11_54-8del|Deletion|Likely benign|CFTR|criteria provided, single submitter|7","1088245|NM_000492.4(CFTR):c.53+8G>A|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1089053|NM_000492.4(CFTR):c.979C>T (p.Leu327=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1089061|NM_000492.4(CFTR):c.336T>C (p.Asp112=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1089110|NM_000492.4(CFTR):c.705T>G (p.Leu235=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1090469|NM_000492.4(CFTR):c.63A>G (p.Arg21=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1091070|NM_000492.4(CFTR):c.3318T>A (p.Ile1106=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1091274|NM_000492.4(CFTR):c.3964-7A>T|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1091568|NM_000492.4(CFTR):c.3964-9T>A|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1093340|NM_000492.4(CFTR):c.3033A>G (p.Leu1011=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1094314|NM_000492.4(CFTR):c.2757C>T (p.Tyr919=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1096265|NM_000492.4(CFTR):c.2127A>G (p.Arg709=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1096582|NM_000492.4(CFTR):c.1036C>T (p.Leu346=)|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1097670|NM_000492.4(CFTR):c.490-9T>A|single nucleotide variant|Likely benign|CFTR|criteria provided, multiple submitters, no conflicts|7","1097705|NM_000492.4(CFTR):c.1117-8A>G|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7","1097899|NM_000492.4(CFTR):c.357C>A (p.Ile119=)|single nucleotide variant|Likely benign|CFTR|criteria provided, single submitter|7"]}]}