{"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:3942,10,HGNC:3942,22,0]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3942","source":"HGNC:3942|mechanistic target of rapamycin kinase","targets":["1000006|NM_004958.4(MTOR):c.3593T>C (p.Val1198Ala)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1000057|NM_004958.4(MTOR):c.5171T>C (p.Met1724Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1000066|NM_004958.4(MTOR):c.79A>G (p.Ser27Gly)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1002410|NM_004958.4(MTOR):c.5591C>T (p.Pro1864Leu)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1003383|NM_004958.4(MTOR):c.3091A>G (p.Met1031Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1003854|NC_000001.10:g.(?_11259295)_(11259780_?)del|Deletion|Uncertain significance|MTOR|criteria provided, single submitter|1","1003859|NM_004958.4(MTOR):c.5569G>A (p.Glu1857Lys)|single nucleotide variant|Benign/Likely benign|MTOR|criteria provided, multiple submitters, no conflicts|1","1003980|NM_004958.4(MTOR):c.2030C>T (p.Ala677Val)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1004066|NM_004958.4(MTOR):c.5197G>A (p.Ala1733Thr)|single nucleotide variant|Likely benign|MTOR|criteria provided, multiple submitters, no conflicts|1","1005041|NM_004958.4(MTOR):c.3670G>A (p.Asp1224Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1006136|NM_004958.4(MTOR):c.6179G>A (p.Arg2060Gln)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1006655|NM_004958.4(MTOR):c.6976G>T (p.Val2326Phe)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1007458|NM_004958.4(MTOR):c.38C>T (p.Ala13Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1007742|NM_004958.4(MTOR):c.3654+6C>G|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1007744|NM_004958.4(MTOR):c.5237T>C (p.Leu1746Pro)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1008160|NM_004958.4(MTOR):c.6247_6248insT (p.Glu2083fs)|Insertion|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1008250|NM_004958.4(MTOR):c.3389C>G (p.Pro1130Arg)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1008900|NM_004958.4(MTOR):c.5714+6A>G|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1009246|NM_004958.4(MTOR):c.1029G>A (p.Met343Ile)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1009281|NM_004958.4(MTOR):c.5075T>C (p.Val1692Ala)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1009960|NM_004958.4(MTOR):c.3001A>G (p.Ile1001Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1010255|NM_004958.4(MTOR):c.6267G>A (p.Met2089Ile)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1011091|NM_004958.4(MTOR):c.7378G>A (p.Gly2460Ser)|single nucleotide variant|Likely benign|MTOR|criteria provided, multiple submitters, no conflicts|1","1013682|NM_004958.4(MTOR):c.6761G>A (p.Arg2254Lys)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1014056|NM_004958.4(MTOR):c.3112A>T (p.Met1038Leu)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1014078|NM_004958.4(MTOR):c.3152C>T (p.Thr1051Met)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1014457|NM_004958.4(MTOR):c.7307C>T (p.Thr2436Ile)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1014724|NM_004958.4(MTOR):c.4321G>C (p.Gly1441Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1014971|NM_004958.4(MTOR):c.3849G>T (p.Trp1283Cys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1015394|NC_000001.10:g.(?_11288705)_(11294342_?)dup|Duplication|Uncertain significance|MTOR|criteria provided, single submitter|1","1015460|NM_004958.4(MTOR):c.3654+4A>G|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1017291|NM_004958.4(MTOR):c.5247A>T (p.Arg1749=)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1018055|NM_004958.4(MTOR):c.1552A>C (p.Thr518Pro)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1018167|NM_004958.4(MTOR):c.1773C>G (p.Ser591Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1018851|NM_004958.4(MTOR):c.5570A>C (p.Glu1857Ala)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1019891|NM_004958.4(MTOR):c.4376C>T (p.Ala1459Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1019970|NM_004958.4(MTOR):c.2263C>T (p.Arg755Cys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1020253|NM_004958.4(MTOR):c.1712C>T (p.Thr571Met)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1020385|NM_004958.4(MTOR):c.1079G>A (p.Arg360Gln)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1021836|NM_004958.4(MTOR):c.4475A>G (p.Gln1492Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1021908|NM_004958.4(MTOR):c.1943C>T (p.Ala648Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1022073|NM_004958.4(MTOR):c.1658G>A (p.Arg553His)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1022312|NM_004958.4(MTOR):c.6454C>T (p.Arg2152Cys)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1022430|NM_004958.4(MTOR):c.1600G>A (p.Asp534Asn)|single nucleotide variant|Benign/Likely benign|MTOR|criteria provided, multiple submitters, no conflicts|1","1023590|NM_004958.4(MTOR):c.7099A>G (p.Thr2367Ala)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1023677|NM_004958.4(MTOR):c.1857C>T (p.Arg619=)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1023703|NM_004958.4(MTOR):c.1373T>G (p.Ile458Ser)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1023857|NM_004958.4(MTOR):c.2987C>T (p.Thr996Met)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1024191|NM_004958.4(MTOR):c.3268C>T (p.Arg1090Cys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1025277|NM_004958.4(MTOR):c.5321A>G (p.Gln1774Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1025488|NM_004958.4(MTOR):c.6975G>A (p.Ala2325=)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1025762|NM_004958.4(MTOR):c.5437_5439del (p.Glu1813del)|Deletion|Uncertain significance|MTOR|criteria provided, single submitter|1","1026833|NM_004958.4(MTOR):c.5093A>G (p.Tyr1698Cys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1028830|NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1028831|NM_004958.4(MTOR):c.2579A>T (p.Lys860Met)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1031480|NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1031481|NM_004958.4(MTOR):c.841-6A>G|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1034855|NM_004958.4(MTOR):c.2794A>G (p.Ser932Gly)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1035502|NM_004958.4(MTOR):c.6106C>T (p.Arg2036Cys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1036376|NM_004958.4(MTOR):c.2906C>A (p.Thr969Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1037151|NM_004958.4(MTOR):c.1652C>T (p.Pro551Leu)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1037646|NM_004958.4(MTOR):c.5515A>G (p.Thr1839Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1038086|NM_004958.4(MTOR):c.3154A>G (p.Ile1052Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1038288|NM_004958.4(MTOR):c.3622C>T (p.Arg1208Cys)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1038505|NM_004958.4(MTOR):c.5599AAG[1] (p.Lys1868del)|Microsatellite|Likely benign|MTOR|criteria provided, single submitter|1","1038997|NM_004958.4(MTOR):c.46T>A (p.Ser16Thr)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1039480|NM_004958.4(MTOR):c.1571T>G (p.Leu524Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1039539|NM_004958.4(MTOR):c.5864G>A (p.Arg1955His)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1040349|NM_004958.4(MTOR):c.2314A>G (p.Met772Val)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1040766|NM_004958.4(MTOR):c.2579A>G (p.Lys860Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1041101|NM_004958.4(MTOR):c.5134G>A (p.Asp1712Asn)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1041830|NM_004958.4(MTOR):c.4922C>T (p.Ser1641Phe)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1042166|NM_004958.4(MTOR):c.119C>T (p.Ala40Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1043002|NM_004958.4(MTOR):c.1031G>A (p.Gly344Glu)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1043344|NM_004958.4(MTOR):c.5365-5A>G|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1045336|NM_004958.4(MTOR):c.1883G>A (p.Arg628His)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1045625|NM_004958.4(MTOR):c.5120G>A (p.Ser1707Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1046825|NM_004958.4(MTOR):c.4402G>A (p.Asp1468Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1047242|NM_004958.4(MTOR):c.2045G>A (p.Arg682His)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1047636|NM_004958.4(MTOR):c.2120T>C (p.Ile707Thr)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1049132|NM_004958.4(MTOR):c.1224A>T (p.Thr408=)|single nucleotide variant|Uncertain significance|MTOR|no assertion criteria provided|1","1051102|NM_004958.4(MTOR):c.3418G>A (p.Asp1140Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1052531|NM_004958.4(MTOR):c.1393C>G (p.Pro465Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1052989|NM_004958.4(MTOR):c.4084G>A (p.Glu1362Lys)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1053185|NM_004958.4(MTOR):c.3716G>A (p.Ser1239Asn)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1053720|NM_004958.4(MTOR):c.4988G>A (p.Ser1663Asn)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1054057|NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, multiple submitters, no conflicts|1","1054573|NM_004958.4(MTOR):c.3113T>C (p.Met1038Thr)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1055032|NM_004958.4(MTOR):c.4699G>T (p.Ala1567Ser)|single nucleotide variant|Benign|MTOR|criteria provided, single submitter|1","1055738|NM_004958.4(MTOR):c.1871G>A (p.Arg624His)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1056323|NM_004958.4(MTOR):c.5687G>A (p.Arg1896Gln)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1056460|NM_004958.4(MTOR):c.1413-6C>G|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1056921|NM_004958.4(MTOR):c.6090C>T (p.Gly2030=)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1057821|NM_004958.4(MTOR):c.181A>G (p.Thr61Ala)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1059520|NM_004958.4(MTOR):c.3901C>T (p.Arg1301Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|MTOR|criteria provided, conflicting classifications|1","1059632|NM_004958.4(MTOR):c.4999-17_4999-1del|Deletion|Uncertain significance|MTOR|criteria provided, single submitter|1","1059633|NM_004958.4(MTOR):c.2008G>T (p.Asp670Tyr)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1059948|NM_004958.4(MTOR):c.944C>G (p.Pro315Arg)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1","1061515|NM_004958.4(MTOR):c.4758A>G (p.Ala1586=)|single nucleotide variant|Likely benign|MTOR|criteria provided, single submitter|1","1062403|NM_004958.4(MTOR):c.6811A>G (p.Met2271Val)|single nucleotide variant|Uncertain significance|MTOR|criteria provided, single submitter|1"]}]}