{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely 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:7127,69,16]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:7127","source":"HGNC:7127|mutL homolog 1","targets":["1006220|NM_000249.4(MLH1):c.193G>A (p.Gly65Ser)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1048973|NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)|Duplication|Likely pathogenic|MLH1|no assertion criteria provided|3","1049107|NM_000249.4(MLH1):c.588+1G>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1065546|NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|","1065547|NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|","1171947|NM_000249.4(MLH1):c.-15_28del (p.Met1fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1172095|NM_000249.4(MLH1):c.1731+5_1731+6delinsCC|Indel|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1217249|NM_000249.4(MLH1):c.1803del (p.Asp601fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1321342|NM_000249.4(MLH1):c.441dup (p.Thr148fs)|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|3","1328981|NM_000249.4(MLH1):c.1550del (p.Gly517fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1331432|NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|3","1334877|NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1339768|NM_000249.4(MLH1):c.1322del (p.Ala441fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1343456|NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1483814|NM_000249.4(MLH1):c.1410-27_1414del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1489661|NM_000249.4(MLH1):c.121G>A (p.Asp41Asn)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1493622|NC_000003.11:g.(?_37045882)_(37050406_?)dup|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|3","1501170|NM_000249.4(MLH1):c.1658_1667+3del|Deletion|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1504680|NM_000249.4(MLH1):c.193G>C (p.Gly65Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1511560|NM_000249.4(MLH1):c.61G>C (p.Ala21Pro)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1523598|NM_000249.4(MLH1):c.388T>C (p.Tyr130His)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1698459|NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]|Variation|Likely pathogenic|MLH1|criteria provided, single submitter|3","1727263|NM_000249.4(MLH1):c.307-1G>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1730286|NM_000249.4(MLH1):c.332C>A (p.Ala111Asp)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1732140|NM_000249.4(MLH1):c.350C>A (p.Thr117Lys)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1735065|NM_000249.4(MLH1):c.380+1del|Deletion|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1736482|NM_000249.4(MLH1):c.116_116+2del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1736497|NM_000249.4(MLH1):c.116+2T>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1739619|NM_000249.4(MLH1):c.117-11T>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1739849|NM_000249.4(MLH1):c.117-2A>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1740111|NM_000249.4(MLH1):c.117-3C>G|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1741278|NM_000249.4(MLH1):c.453+2dup|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|3","1741363|NM_000249.4(MLH1):c.454-10_455delinsGAACA|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1741372|NM_000249.4(MLH1):c.454-3_454delinsT|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1741392|NM_000249.4(MLH1):c.454-7T>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1743578|NM_000249.4(MLH1):c.485_523del (p.Arg162_Gly174del)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1747173|NM_000249.4(MLH1):c.538_545+27delinsTG|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1747605|NM_000249.4(MLH1):c.545+1_545+6del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1747676|NM_000249.4(MLH1):c.546-1G>T|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1750322|NM_000249.4(MLH1):c.589-2A>T|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1752818|NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1755397|NM_000249.4(MLH1):c.678-18_685del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1758254|NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1760221|NM_000249.4(MLH1):c.770_790+82delinsA|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1760969|NM_000249.4(MLH1):c.789_790+4del|Deletion|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1761141|NM_000249.4(MLH1):c.790+1_790+2delinsTA|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1761143|NM_000249.4(MLH1):c.790+3A>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1761144|NM_000249.4(MLH1):c.790+4del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1764856|NM_000249.4(MLH1):c.884+1G>T|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1764885|NM_000249.4(MLH1):c.885-25_1014delinsCA|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1768055|NM_000249.4(MLH1):c.974_1000del (p.Arg325_Lys333del)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1773013|NM_000249.4(MLH1):c.1038+2T>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1773017|NM_000249.4(MLH1):c.1038+2T>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1775185|NM_000249.4(MLH1):c.1558+1G>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1776480|NM_000249.4(MLH1):c.1615G>C (p.Ala539Pro)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1776675|NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1777213|NM_000249.4(MLH1):c.1649T>G (p.Leu550Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1777598|NM_000249.4(MLH1):c.1668-2del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1778978|NM_000249.4(MLH1):c.1731+1_1731+3delinsT|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1778982|NM_000249.4(MLH1):c.1731+5G>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1779009|NM_000249.4(MLH1):c.1732-9_1747delinsCC|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1779288|NM_000249.4(MLH1):c.1745T>G (p.Leu582Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1779452|NM_000249.4(MLH1):c.1754T>G (p.Leu585Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1781578|NM_000249.4(MLH1):c.1865T>G (p.Leu622Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1782159|NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1782160|NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1782167|NM_000249.4(MLH1):c.1897-14_1897-1del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1782168|NM_000249.4(MLH1):c.1897-15_1901del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1782170|NM_000249.3(MLH1):c.1897-1delG|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1782387|NM_000249.4(MLH1):c.1906_1907delinsGG (p.Leu636Gly)|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1782973|NM_000249.4(MLH1):c.1936T>G (p.Tyr646Asp)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1783039|NM_000249.4(MLH1):c.193G>T (p.Gly65Cys)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1783072|NM_000249.4(MLH1):c.1942C>A (p.Pro648Thr)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1783088|NM_000249.4(MLH1):c.1943C>A (p.Pro648His)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1783962|NM_000249.4(MLH1):c.1990-11_1990-2delinsTT|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1783963|NM_000249.4(MLH1):c.1990-2A>T|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784033|NM_000249.4(MLH1):c.1995_1996delinsG (p.Asn665fs)|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784501|NM_000249.4(MLH1):c.2019del (p.Phe673fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784628|NM_000249.4(MLH1):c.2024del (p.Ser675fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784677|NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784679|NM_000249.4(MLH1):c.2028_2032delinsT (p.Ser677fs)|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784774|NM_000249.4(MLH1):c.2032_2049del (p.Lys678_Phe683del)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1784834|NM_000249.4(MLH1):c.2037del (p.Glu679fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1785375|NM_000249.4(MLH1):c.207+3A>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1785410|NM_000249.4(MLH1):c.2072del (p.Ile691fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1785947|NM_000249.4(MLH1):c.2103+2T>A|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1785948|NM_000249.4(MLH1):c.2103+2T>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1785958|NM_000249.4(MLH1):c.2104-1G>C|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, multiple submitters, no conflicts|3","1785960|NM_000249.4(MLH1):c.2104-7_2147del|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1786589|NM_000249.4(MLH1):c.2141_2142dup (p.Thr715fs)|Duplication|Likely pathogenic|MLH1|criteria provided, single submitter|3","1786813|NM_000249.4(MLH1):c.2156_2172del (p.Ile719fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1786837|NM_000249.4(MLH1):c.2158_2161del (p.Val720fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1787125|NM_000249.4(MLH1):c.2172del (p.Leu724fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1787212|NM_000249.4(MLH1):c.2178del (p.His727fs)|Deletion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1788270|NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)|Insertion|Likely pathogenic|MLH1|criteria provided, single submitter|3","1788312|NM_000249.4(MLH1):c.2244_2249delinsG (p.Asp748fs)|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1788501|NM_000249.4(MLH1):c.2255_2268delinsA (p.Val752fs)|Indel|Likely pathogenic|MLH1|criteria provided, single submitter|3","1788743|NM_000249.4(MLH1):c.2269T>C (p.Ter757Gln)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1788786|NM_000249.4(MLH1):c.2271A>T (p.Ter757Tyr)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3","1798276|NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)|single nucleotide variant|Likely pathogenic|MLH1|criteria provided, single submitter|3"]}]}