{"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:11766,10,HGNC:11766,150,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:11766","source":"HGNC:11766|transforming growth factor beta 1","targets":["1003441|NM_000660.7(TGFB1):c.553C>T (p.Arg185Trp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1007422|NM_000660.7(TGFB1):c.1014+17G>A|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1013166|NM_000660.7(TGFB1):c.256G>T (p.Asp86Tyr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1021413|NM_000660.7(TGFB1):c.395A>G (p.Tyr132Cys)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1029928|NM_000660.7(TGFB1):c.715T>A (p.Phe239Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1049659|NM_000660.7(TGFB1):c.613C>T (p.Arg205Trp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1061718|NM_000660.7(TGFB1):c.934C>T (p.His312Tyr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1166673|NM_000660.7(TGFB1):c.1015-8G>A|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1182159|NM_000660.7(TGFB1):c.516+148G>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1188105|NM_000660.7(TGFB1):c.356-174_356-173insT|Insertion|Likely benign|TGFB1|criteria provided, single submitter|19","1201092|NM_000660.7(TGFB1):c.516+150dup|Duplication|Likely benign|TGFB1|criteria provided, single submitter|19","1219337|NM_000660.7(TGFB1):c.634+28T>C|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1225478|NM_000660.7(TGFB1):c.516+299_516+307del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1230600|NM_000660.7(TGFB1):c.1014+286C>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1231315|NM_000660.7(TGFB1):c.635-195T>G|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1243420|NM_000660.7(TGFB1):c.356-174A>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","12528|NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)|single nucleotide variant|Pathogenic|TGFB1|no assertion criteria provided|19","12529|NM_000660.7(TGFB1):c.653G>A (p.Arg218His)|single nucleotide variant|Pathogenic/Likely pathogenic|TGFB1|criteria provided, multiple submitters, no conflicts|19","12530|NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","12531|NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)|single nucleotide variant|Pathogenic|TGFB1|criteria provided, multiple submitters, no conflicts|19","12533|NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)|single nucleotide variant|Pathogenic|TGFB1|no assertion criteria provided|19","12534|NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1259350|NM_000660.7(TGFB1):c.576G>A (p.Ser192=)|single nucleotide variant|Benign/Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1259955|NM_000660.7(TGFB1):c.356-314A>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1261994|NM_000660.7(TGFB1):c.860+51C>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1268416|NM_000660.7(TGFB1):c.356-314A>C|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1274979|NM_000660.7(TGFB1):c.516+164del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1277654|NM_000660.7(TGFB1):c.356-164TAAA[10]|Microsatellite|Benign|TGFB1|criteria provided, single submitter|19","1278399|NM_000660.7(TGFB1):c.356-164TAAA[12]|Microsatellite|Benign|TGFB1|criteria provided, single submitter|19","1280232|NM_000660.7(TGFB1):c.356-25G>T|single nucleotide variant|Benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1280426|NM_000660.7(TGFB1):c.635-271_635-270del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1284065|NM_000660.7(TGFB1):c.517-273C>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1288925|NM_000660.7(TGFB1):c.516+114G>A|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1290698|NM_000660.7(TGFB1):c.635-270del|Deletion|Benign|TGFB1|criteria provided, single submitter|19","1306494|NM_000660.7(TGFB1):c.1031A>C (p.Asn344Thr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1325512|NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1346195|NM_000660.7(TGFB1):c.502G>A (p.Val168Met)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1347627|NM_000660.7(TGFB1):c.604G>A (p.Gly202Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1347999|NM_000660.7(TGFB1):c.99C>T (p.Cys33=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1348432|NM_000660.7(TGFB1):c.442G>A (p.Val148Met)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1352253|NM_000660.7(TGFB1):c.665A>T (p.His222Leu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1355053|NM_000660.7(TGFB1):c.516+6G>T|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1356981|NM_000660.7(TGFB1):c.91T>G (p.Ser31Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1358332|NM_000660.7(TGFB1):c.85G>C (p.Gly29Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1359501|NM_000660.7(TGFB1):c.1141A>C (p.Asn381His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1365198|NM_000660.7(TGFB1):c.901G>C (p.Asp301His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1373267|NC_000019.9:g.(?_41847768)_(41850789_?)dup|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1375990|NM_000660.7(TGFB1):c.14GGCTGC[3] (p.Arg7_Leu8dup)|Microsatellite|Uncertain significance|TGFB1|criteria provided, single submitter|19","1377343|NM_000660.7(TGFB1):c.712+18G>A|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1379026|NM_000660.7(TGFB1):c.628C>T (p.Arg210Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|TGFB1|criteria provided, conflicting classifications|19","1380392|NM_000660.7(TGFB1):c.684G>T (p.Arg228Ser)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1382525|NM_000660.7(TGFB1):c.1013A>C (p.Lys338Thr)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1382552|NM_000660.7(TGFB1):c.1147A>T (p.Ile383Phe)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383129|NM_000660.7(TGFB1):c.1004A>G (p.Gln335Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383354|NM_000660.7(TGFB1):c.517A>G (p.Lys173Glu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1383975|NM_000660.7(TGFB1):c.944A>G (p.Lys315Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1389042|NM_000660.7(TGFB1):c.718A>C (p.Thr240Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1393985|NM_000660.7(TGFB1):c.29_37dup (p.Pro10_Leu12dup)|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1411088|NM_000660.7(TGFB1):c.28_29insTGCTGCTGCTAC (p.Leu9_Pro10insLeuLeuLeuLeu)|Insertion|Uncertain significance|TGFB1|criteria provided, single submitter|19","1416735|NM_000660.7(TGFB1):c.832C>G (p.Arg278Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1417381|NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1421136|NM_000660.7(TGFB1):c.529A>G (p.Asn177Asp)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1422888|NM_000660.7(TGFB1):c.718A>G (p.Thr240Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1431578|NM_000660.7(TGFB1):c.722C>T (p.Thr241Ile)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1438953|NM_000660.7(TGFB1):c.386A>G (p.His129Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1439642|NM_000660.7(TGFB1):c.625A>C (p.Ser209Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1461638|NM_000660.7(TGFB1):c.86G>C (p.Gly29Ala)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1467482|NM_000660.7(TGFB1):c.791C>T (p.Pro264Leu)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1473460|NM_000660.7(TGFB1):c.29C>G (p.Pro10Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1475445|NM_000660.7(TGFB1):c.1153C>G (p.Arg385Gly)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1478546|NM_000660.7(TGFB1):c.841G>A (p.Asp281Asn)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1483405|NM_000660.7(TGFB1):c.552C>A (p.Asn184Lys)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1490438|NM_000660.7(TGFB1):c.779T>C (p.Leu260Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1491287|NM_000660.7(TGFB1):c.482A>G (p.Lys161Arg)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1491380|NM_000660.7(TGFB1):c.39_47dup (p.Pro14_Leu16dup)|Duplication|Uncertain significance|TGFB1|criteria provided, single submitter|19","1496976|NM_000660.7(TGFB1):c.867G>A (p.Thr289=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1498982|NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|TGFB1|criteria provided, conflicting classifications|19","1502131|NM_000660.7(TGFB1):c.870GAA[1] (p.Lys291del)|Microsatellite|Uncertain significance|TGFB1|criteria provided, single submitter|19","1506364|NM_000660.7(TGFB1):c.893T>C (p.Leu298Pro)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1507123|NM_000660.7(TGFB1):c.1047C>T (p.Gly349=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1510529|NM_000660.7(TGFB1):c.629G>A (p.Arg210His)|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1510573|NM_000660.7(TGFB1):c.1014+4C>T|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1516942|NM_000660.7(TGFB1):c.712+3G>A|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, single submitter|19","1518693|NM_000660.7(TGFB1):c.1014+5G>A|single nucleotide variant|Uncertain significance|TGFB1|criteria provided, multiple submitters, no conflicts|19","1528495|NM_000660.7(TGFB1):c.441C>T (p.Pro147=)|single nucleotide variant|Benign/Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1532501|NM_000660.7(TGFB1):c.1149C>T (p.Ile383=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1532502|NM_000660.7(TGFB1):c.712+17C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1536753|NM_000660.7(TGFB1):c.1015-12C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1542142|NM_000660.7(TGFB1):c.1014+15C>T|single nucleotide variant|Benign|TGFB1|criteria provided, single submitter|19","1544439|NM_000660.7(TGFB1):c.792G>A (p.Pro264=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1545171|NM_000660.7(TGFB1):c.660C>T (p.Ser220=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1550109|NM_000660.7(TGFB1):c.517-16C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1552986|NM_000660.7(TGFB1):c.356-4C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1554662|NM_000660.7(TGFB1):c.516+14C>T|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1557574|NM_000660.7(TGFB1):c.936C>T (p.His312=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1558458|NM_000660.7(TGFB1):c.396T>C (p.Tyr132=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1562787|NM_000660.7(TGFB1):c.492G>A (p.Val164=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1568573|NM_000660.7(TGFB1):c.765G>A (p.Arg255=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, multiple submitters, no conflicts|19","1572306|NM_000660.7(TGFB1):c.36G>A (p.Leu12=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19","1573254|NM_000660.7(TGFB1):c.801G>A (p.Arg267=)|single nucleotide variant|Likely benign|TGFB1|criteria provided, single submitter|19"]}]}