{"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:7127,10,HGNC:7127,8,6]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7127","source":"HGNC:7127|mutL homolog 1","targets":["1012206|NM_000249.4(MLH1):c.1003del (p.Leu335fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1023950|NM_000249.4(MLH1):c.1681_1686del (p.Tyr561_Gln562del)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1048862|NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1048888|NM_000249.4(MLH1):c.2131dup (p.Ser711fs)|Duplication|Pathogenic|MLH1|no assertion criteria provided|3","1049248|NM_000249.4(MLH1):c.1039-2_1409+1del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1049302|NM_000249.4(MLH1):c.1275dup (p.Gln426fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1049396|NM_000249.4(MLH1):c.1999del (p.Asp667fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1049508|NM_000249.4(MLH1):c.631_632del (p.Ser211fs)|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1049646|NM_000249.4(MLH1):c.546-2_589-59del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1049670|NM_000249.4(MLH1):c.1896+1G>C|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1049673|NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1049886|NM_000249.4(MLH1):c.-2_116+1del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050017|NM_000249.4(MLH1):c.365del (p.Gly122fs)|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050185|NM_000249.4(MLH1):c.1039-2_1409+150del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050489|NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)|Indel|Pathogenic|MLH1|no assertion criteria provided|3","1050518|NM_000249.4(MLH1):c.1732-2_1896+1del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050645|NM_000249.4(MLH1):c.1559-2_1667+1del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050662|NM_000249.4(MLH1):c.1559-4_1667+63del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1050751|NM_000249.4(MLH1):c.995_996insA (p.Ser332fs)|Insertion|Pathogenic|MLH1|no assertion criteria provided|3","1065545|NM_000249.3:c.(1896+1_1897-1)_(2103+1_2104-1)dup|Duplication|Pathogenic|MLH1|criteria provided, single submitter|","1068445|NC_000003.11:g.(?_37048472)_(37050406_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1068446|NC_000003.11:g.(?_37053301)_(37059100_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1068563|NM_000249.4(MLH1):c.1921dup (p.Leu641fs)|Duplication|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1068760|NM_000249.4(MLH1):c.2089dup (p.Leu697fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1068948|NM_000249.4(MLH1):c.406A>T (p.Lys136Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1069159|NC_000003.11:g.(?_37035033)_(37035160_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1069316|NM_000249.4(MLH1):c.1482T>A (p.Cys494Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, single submitter|3","1069408|NM_000249.4(MLH1):c.1507del (p.Leu503fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1069751|NM_000249.4(MLH1):c.2039_2040delinsAG (p.Cys680Ter)|Indel|Pathogenic|MLH1|criteria provided, single submitter|3","1069993|NM_000249.4(MLH1):c.2099del (p.Gln700fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1070239|NM_000249.4(MLH1):c.22del (p.Ile8fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1070285|NM_000249.4(MLH1):c.760_761insTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGAAGTGCATCTTC (p.Lys254fs)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1070756|NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1071009|NC_000003.11:g.(?_37070265)_(37070433_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1071011|NC_000003.11:g.(?_37083749)_(37083832_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1071267|NM_000249.4(MLH1):c.2123_2126del (p.Ile708fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1071269|NC_000003.11:g.(?_37050291)_(37067508_?)dup|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1071293|NM_000249.4(MLH1):c.194_195insAT (p.Thr66fs)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1071631|NM_000249.4(MLH1):c.837_838del (p.Tyr280fs)|Microsatellite|Pathogenic|MLH1|criteria provided, single submitter|3","1071933|NM_000249.4(MLH1):c.929_930del (p.Thr310fs)|Microsatellite|Pathogenic|MLH1|criteria provided, single submitter|3","1072166|NM_000249.4(MLH1):c.2046_2052del (p.Met682fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1072967|NC_000003.11:g.(?_37091967)_(37092144_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1072968|NC_000003.11:g.(?_37042436)_(37042554_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1072969|NC_000003.11:g.(?_37045882)_(37045975_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1072970|NC_000003.11:g.(?_37050291)_(37050406_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1073257|NM_000249.4(MLH1):c.1707del (p.Asn570fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1073537|NM_000249.4(MLH1):c.168_169insCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGGCCTG (p.Lys57delinsProValValProAlaThrArgGluAlaGluAlaGlyGluTrpArgGluProGlyArgArgSerLeuGlnTer)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1073807|NM_000249.4(MLH1):c.194_201del (p.Gly65fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1074205|NM_000249.4(MLH1):c.35del (p.Asp12fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1074444|NC_000003.11:g.37056022_37056023insSVA|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1074878|NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1074920|NM_000249.4(MLH1):c.790del (p.His264fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1075063|NC_000003.11:g.(?_37045882)_(37050406_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1075064|NC_000003.11:g.(?_37045882)_(37053600_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1075393|NM_000249.4(MLH1):c.2028del (p.Ser677fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1076321|NM_000249.4(MLH1):c.1888del (p.Ile630fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1076485|NM_000249.4(MLH1):c.1435_1453del (p.Val479fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1076792|NM_000249.4(MLH1):c.1983dup (p.Thr662fs)|Duplication|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1076815|NM_000249.4(MLH1):c.979dup (p.Gln327fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1177381|NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1195084|NM_000249.4(MLH1):c.1713del (p.Phe571fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1255698|NM_000249.4(MLH1):c.1A>T (p.Met1Leu)|single nucleotide variant|Pathogenic|MLH1|criteria provided, single submitter|3","1321455|NC_000003.11:g.(37045966_37048481)_(37048555_37050304)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1329486|NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, single submitter|3","1332889|NM_000249.4(MLH1):c.1731+2247_1897-402del|Deletion|Pathogenic|MLH1|no assertion criteria provided|3","1343455|NC_000003.11:g.(37061955_37067127)_(37067499_37070274)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1344897|NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs)|Indel|Pathogenic|MLH1|criteria provided, single submitter|3","1358070|NM_000249.4(MLH1):c.1727T>G (p.Leu576Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","135851|NM_000249.4(MLH1):c.2190del (p.Pro731fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1363906|NM_000249.4(MLH1):c.679_688dup (p.Glu230fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1364738|NM_000249.4(MLH1):c.1499_1512del (p.Ile500fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1365840|NM_000249.4(MLH1):c.52_59del (p.Arg18fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1368790|NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1372749|NM_000249.4(MLH1):c.2043dup (p.Met682fs)|Duplication|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1381970|NM_000249.4(MLH1):c.463_464insG (p.Leu155fs)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1385183|NM_000249.4(MLH1):c.776_777insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGACGGGAGAGGGAGAGGGAGACGGGATAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGTGAGACGGGAGAGGGAGAGAAGTGCATCTTCTT (p.Leu259delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyArgArgGluArgGluArgGluThrGlyTer)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1387037|NM_000249.4(MLH1):c.813del (p.Ser271_Leu272insTer)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1391261|NM_000249.4(MLH1):c.1373dup (p.Met458fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1392794|NM_000249.4(MLH1):c.1499del (p.Ile500fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1394932|NM_000249.4(MLH1):c.22_32dup (p.Asp12fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1400937|NC_000003.11:g.(?_37067118)_(37070433_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1401008|NC_000003.11:g.(?_37055913)_(37061964_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1402505|NM_000249.4(MLH1):c.1809del (p.Glu605fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1405246|NM_000249.4(MLH1):c.1239dup (p.Glu414fs)|Duplication|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","141043|NM_000249.4(MLH1):c.790+1G>T|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1412554|NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)|single nucleotide variant|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1413975|NM_000249.4(MLH1):c.101_104del (p.Glu34fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","141632|NM_000249.4(MLH1):c.1401del (p.Ser467fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","142856|NM_000249.4(MLH1):c.117-2A>G|single nucleotide variant|Pathogenic|MLH1|reviewed by expert panel|3","1435789|NM_000249.4(MLH1):c.1723dup (p.Arg575fs)|Duplication|Pathogenic|MLH1|criteria provided, single submitter|3","1443114|NM_000249.4(MLH1):c.2195_2196del (p.Lys732fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1451346|NM_000249.4(MLH1):c.383del (p.Ala128fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1452142|NC_000003.11:g.(?_37050291)_(37059100_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1452429|NM_000249.4(MLH1):c.1369_1370insGGAGCGGAGCAGAGCCGAGGTCGGGCCGCGAGCGGAGCCGGCTGAGCGGGCGCCGAGCTCCCGCCATGGCCCGGAACACGCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAAGGGGACTTCAG (p.Glu457fs)|Insertion|Pathogenic|MLH1|criteria provided, single submitter|3","1452609|NM_000249.4(MLH1):c.227dup (p.Cys77fs)|Duplication|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1453286|NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1453590|NM_000249.4(MLH1):c.2163del (p.Val720_Tyr721insTer)|Deletion|Pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1454090|NM_000249.4(MLH1):c.1149_1161del (p.Met383fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1454289|NM_000249.4(MLH1):c.654del (p.Ile219fs)|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3","1454707|NC_000003.11:g.(?_37045882)_(37048564_?)del|Deletion|Pathogenic|MLH1|criteria provided, single submitter|3"]}]}