{"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:6770,10,HGNC:6770,105,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6770","source":"HGNC:6770|SMAD family member 4","targets":["1001530|NM_005359.6(SMAD4):c.332A>G (p.His111Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1002956|NM_005359.6(SMAD4):c.377T>C (p.Val126Ala)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1003035|NM_005359.6(SMAD4):c.1042G>A (p.Val348Ile)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1003055|NM_005359.6(SMAD4):c.1529G>A (p.Gly510Glu)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1003211|NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1003483|NM_005359.6(SMAD4):c.955+5G>A|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1003593|NM_005359.6(SMAD4):c.473T>A (p.Val158Glu)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1004025|NM_005359.6(SMAD4):c.240G>T (p.Gly80=)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1005312|NM_005359.6(SMAD4):c.841C>T (p.Pro281Ser)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1006156|NM_005359.6(SMAD4):c.874C>G (p.Pro292Ala)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1006241|NM_005359.6(SMAD4):c.1592G>A (p.Arg531Gln)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1008410|NM_005359.6(SMAD4):c.1154A>G (p.Lys385Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1011182|NC_000018.10:g.(?_51030213)_(51078467_?)dup|Duplication|Uncertain significance|SMAD4|criteria provided, single submitter|18","1015769|NM_005359.6(SMAD4):c.1112A>G (p.His371Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1016159|NM_005359.6(SMAD4):c.680G>A (p.Ser227Asn)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1018526|NM_005359.6(SMAD4):c.1505G>A (p.Arg502Lys)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1019601|NM_005359.6(SMAD4):c.1637C>T (p.Ala546Val)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1020013|NM_005359.6(SMAD4):c.750G>C (p.Gln250His)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1020271|NC_000018.9:g.(?_48556583)_(48603156_?)dup|Duplication|Uncertain significance|SMAD4|criteria provided, single submitter|18","1024012|NM_005359.6(SMAD4):c.454+4G>A|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1025016|NM_005359.6(SMAD4):c.409G>A (p.Val137Ile)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1026072|NM_005359.6(SMAD4):c.1628T>G (p.Met543Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1026351|NM_005359.6(SMAD4):c.360C>G (p.Asp120Glu)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1027090|NM_005359.6(SMAD4):c.1570T>C (p.Trp524Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1032991|NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer)|Insertion|Likely pathogenic|SMAD4|criteria provided, single submitter|18","1034736|NM_005359.6(SMAD4):c.564T>G (p.Asn188Lys)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1036200|NM_005359.6(SMAD4):c.734A>G (p.Gln245Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1038490|NM_005359.6(SMAD4):c.542C>A (p.Thr181Asn)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1039184|NM_005359.6(SMAD4):c.827A>C (p.Tyr276Ser)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1040764|NM_005359.6(SMAD4):c.909T>A (p.Pro303=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1041597|NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1042243|NM_005359.6(SMAD4):c.643C>G (p.Pro215Ala)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1044587|NM_005359.6(SMAD4):c.1633A>G (p.Ile545Val)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1044657|NM_005359.6(SMAD4):c.604G>A (p.Ala202Thr)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1046007|NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1046417|NM_005359.6(SMAD4):c.540A>C (p.Gln180His)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1049479|NM_005359.6(SMAD4):c.1139+12A>G|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1049800|NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg)|single nucleotide variant|Uncertain significance|SMAD4|no assertion criteria provided|18","1050635|NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)|single nucleotide variant|Pathogenic|SMAD4|no assertion criteria provided|18","1052327|NM_005359.6(SMAD4):c.43G>A (p.Ala15Thr)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1052688|NM_005359.6(SMAD4):c.827A>G (p.Tyr276Cys)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1053264|NM_005359.6(SMAD4):c.937C>A (p.Pro313Thr)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1054313|NM_005359.6(SMAD4):c.1590C>G (p.His530Gln)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1055211|NM_005359.6(SMAD4):c.1232G>A (p.Ser411Asn)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1055822|NM_005359.6(SMAD4):c.1207A>G (p.Ser403Gly)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1057257|NM_005359.6(SMAD4):c.1070C>T (p.Ser357Phe)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1057283|NM_005359.6(SMAD4):c.934C>T (p.Pro312Ser)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1057284|NM_005359.6(SMAD4):c.642T>G (p.Phe214Leu)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1059916|NM_005359.6(SMAD4):c.425-4T>G|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, single submitter|18","1062509|NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser)|single nucleotide variant|Uncertain significance|SMAD4|criteria provided, multiple submitters, no conflicts|18","1066208|NM_005359.6(SMAD4):c.1149A>G (p.Ile383Met)|single nucleotide variant|Likely pathogenic|SMAD4|criteria provided, single submitter|18","1067853|NM_005359.6(SMAD4):c.1308+2T>G|single nucleotide variant|Likely pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1070021|NC_000018.9:g.(?_48604616)_(48604837_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1070022|NC_000018.9:g.(?_48593383)_(48604842_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1073157|NM_005359.6(SMAD4):c.620del (p.Asn207fs)|Deletion|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1074223|NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1074875|NM_005359.6(SMAD4):c.223del (p.Gln75fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1075033|NM_005359.6(SMAD4):c.1494dup (p.Cys499fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1076671|NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","1076948|NM_005359.6(SMAD4):c.563del (p.Asn188fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1077798|NM_005359.6(SMAD4):c.462A>G (p.Ser154=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1079927|NM_005359.6(SMAD4):c.787+10T>C|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1081233|NM_005359.6(SMAD4):c.609A>C (p.Pro203=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1081423|NM_005359.6(SMAD4):c.455-5T>A|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1081999|NM_005359.6(SMAD4):c.1056A>C (p.Gly352=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1083308|NM_005359.6(SMAD4):c.668-8T>G|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1084359|NM_005359.6(SMAD4):c.455-6A>T|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1084676|NM_005359.6(SMAD4):c.1140-8T>A|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1085852|NM_005359.6(SMAD4):c.630C>T (p.Ser210=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1086696|NC_000018.9:g.(?_48573411)_(48604842_?)dup|Duplication|Likely benign|SMAD4|criteria provided, single submitter|18","1088533|NM_005359.6(SMAD4):c.546C>T (p.Ile182=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1090737|NM_005359.6(SMAD4):c.1447+10C>G|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1097875|NM_005359.6(SMAD4):c.333T>C (p.His111=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1099165|NM_005359.6(SMAD4):c.444G>T (p.Leu148=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1101334|NM_005359.6(SMAD4):c.905-8T>G|single nucleotide variant|Conflicting classifications of pathogenicity|SMAD4|criteria provided, conflicting classifications|18","1102590|NM_005359.6(SMAD4):c.441A>G (p.Thr147=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1105893|NC_000018.9:g.(?_48573407)_(48573675_?)dup|Duplication|Likely benign|SMAD4|criteria provided, single submitter|18","1107276|NM_005359.6(SMAD4):c.905-7_905-3del|Microsatellite|Likely benign|SMAD4|criteria provided, single submitter|18","1109784|NM_005359.6(SMAD4):c.945C>G (p.Ser315=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1111987|NM_005359.6(SMAD4):c.510A>T (p.Pro170=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1112558|NM_005359.6(SMAD4):c.1455A>C (p.Ser485=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1112726|NM_005359.6(SMAD4):c.1122A>G (p.Glu374=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1112876|NM_005359.6(SMAD4):c.1398A>G (p.Ala466=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1113754|NM_005359.6(SMAD4):c.1447+7A>G|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1116732|NM_005359.6(SMAD4):c.1224T>C (p.Phe408=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1118402|NM_005359.6(SMAD4):c.1137A>G (p.Ala379=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1119187|NM_005359.6(SMAD4):c.455-4A>T|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1120419|NM_005359.6(SMAD4):c.1434A>C (p.Ile478=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1121529|NM_005359.6(SMAD4):c.102A>T (p.Thr34=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1121733|NM_005359.6(SMAD4):c.6C>T (p.Asp2=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1121884|NM_005359.6(SMAD4):c.897A>C (p.Gly299=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1125761|NM_005359.6(SMAD4):c.1266T>C (p.Pro422=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1127953|NM_005359.6(SMAD4):c.1482C>T (p.Asp494=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1130575|NM_005359.6(SMAD4):c.915C>T (p.His305=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1130940|NM_005359.6(SMAD4):c.1197C>T (p.Val399=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, single submitter|18","1132231|NM_005359.6(SMAD4):c.738A>G (p.Pro246=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1132588|NM_005359.6(SMAD4):c.454+9T>A|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1132687|NM_005359.6(SMAD4):c.1658G>A (p.Ter553=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1132954|NM_005359.6(SMAD4):c.132A>T (p.Val44=)|single nucleotide variant|Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18","1134555|NM_005359.6(SMAD4):c.1380C>A (p.Ala460=)|single nucleotide variant|Benign/Likely benign|SMAD4|criteria provided, multiple submitters, no conflicts|18"]}]}