{"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:6770,10,HGNC:6770,90,13]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6770","source":"HGNC:6770|SMAD family member 4","targets":["1050635|NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)|single nucleotide variant|Pathogenic|SMAD4|no assertion criteria provided|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","1351575|NM_005359.6(SMAD4):c.23del (p.Asn8fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1363053|NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1380059|NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1390653|NM_005359.6(SMAD4):c.112del (p.Arg38fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1392952|NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1395560|NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1402744|NM_005359.6(SMAD4):c.714dup (p.Gln239fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","140903|NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1409550|NM_005359.6(SMAD4):c.332_333del (p.His111fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1417860|NM_005359.6(SMAD4):c.1373dup (p.Ala459fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1419311|NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","142253|NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)|Deletion|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1434302|NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1442723|NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","1448680|NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1453585|NM_005359.6(SMAD4):c.1548del (p.Ser517fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1453882|NM_005359.6(SMAD4):c.1415dup (p.Gly473fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1456071|NC_000018.9:g.(?_48591783)_(48591986_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1457361|NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1458397|NM_005359.6(SMAD4):c.1176dup (p.Gly393fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1459423|NC_000018.9:g.(?_48602998)_(48604837_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","156513|NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","167685|NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)|Indel|Pathogenic|SMAD4|criteria provided, single submitter|18","1728912|NM_005359.6(SMAD4):c.320del (p.Asn107fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1730735|NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1734287|NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1735712|NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)|Insertion|Pathogenic|SMAD4|criteria provided, single submitter|18","1743161|NM_005359.6(SMAD4):c.479dup (p.Asp160fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1750067|NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1752947|NM_005359.6(SMAD4):c.633dup (p.Ala212fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1753181|NM_005359.6(SMAD4):c.1019dup (p.Val341fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1756201|NM_005359.6(SMAD4):c.692del (p.Gly231fs)|Deletion|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1757479|NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1757953|NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","1764017|NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)|Insertion|Pathogenic|SMAD4|criteria provided, single submitter|18","1765998|NM_005359.6(SMAD4):c.915del (p.His305fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1766070|NM_005359.6(SMAD4):c.917del (p.Asn306fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","1767849|NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","1769038|NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1772006|NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1774100|NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)|Insertion|Pathogenic|SMAD4|criteria provided, single submitter|18","1788254|NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","1794042|NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1801556|NM_005359.6(SMAD4):c.667+1G>C|single nucleotide variant|Pathogenic|SMAD4|no assertion criteria provided|18","1801661|NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)|Deletion|Pathogenic|SMAD4|no assertion criteria provided|18","182867|NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs)|Microsatellite|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","182871|NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","182873|NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","182874|NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","183978|NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","185371|NM_005359.6(SMAD4):c.898_904+1dup|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","187217|NM_005359.6(SMAD4):c.153dup (p.Asp52fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","188177|NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","1999261|NM_005359.6(SMAD4):c.1010del (p.Glu337fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2015826|NM_005359.6(SMAD4):c.1470del (p.Ile490fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2026527|NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","2036411|NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","2058203|NM_005359.6(SMAD4):c.391dup (p.Tyr131fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","2093011|NM_005359.6(SMAD4):c.137_155del (p.Lys46fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2108501|NM_005359.6(SMAD4):c.778_779dup (p.His261fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","2113672|NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2116377|NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","2117814|NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","2134379|NM_005359.6(SMAD4):c.425-9A>G|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","2138155|NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","216092|NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|","216093|NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","224548|NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)|Deletion|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","224549|NM_005359.5(SMAD4):c.(?_-538)_1139+?del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","230663|NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, single submitter|18","233042|NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","233889|NM_005359.6(SMAD4):c.153del (p.Asp52fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","240143|NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","240156|NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","2425340|NC_000018.9:g.(?_48602988)_(48604837_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2425341|NC_000018.9:g.(?_48591783)_(48593567_?)del|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2431265|NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","2431333|NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","2452506|NM_005359.6(SMAD4):c.794dup (p.Thr266fs)|Duplication|Pathogenic|SMAD4|criteria provided, single submitter|18","24802|NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24804|NM_005359.6(SMAD4):c.430_431del (p.Ser144fs)|Microsatellite|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24811|NM_005359.6(SMAD4):c.692dup (p.Ser232fs)|Duplication|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24813|NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)|Insertion|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24816|NM_005359.6(SMAD4):c.831_832del (p.Thr277_Pro278insTer)|Microsatellite|Pathogenic|SMAD4|no assertion criteria provided|18","24825|NM_005359.6(SMAD4):c.1037del (p.Pro346fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","24826|NM_005359.6(SMAD4):c.1042_1043del (p.Val348fs)|Deletion|Pathogenic|SMAD4|no assertion criteria provided|18","24830|NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24842|NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18","24845|NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)|single nucleotide variant|Pathogenic|SMAD4|no assertion criteria provided|18","24847|NM_005359.6(SMAD4):c.1242del (p.Asp415fs)|Deletion|Pathogenic|SMAD4|criteria provided, single submitter|18","24850|NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)|single nucleotide variant|Pathogenic|SMAD4|criteria provided, multiple submitters, no conflicts|18"]}]}