{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":27,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:3942","source":"HGNC:3942|mechanistic target of rapamycin kinase","targets":["1065618|NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)|single nucleotide variant|Likely pathogenic|MTOR|no assertion criteria provided|1","1213694|NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","1296993|NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg)|single nucleotide variant|Likely pathogenic|MTOR|reviewed by expert panel|1","1296997|NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)|single nucleotide variant|Likely pathogenic|MTOR|reviewed by expert panel|1","1310128|NM_004958.4(MTOR):c.5380G>A (p.Ala1794Thr)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","1315046|NM_004958.4(MTOR):c.7076G>A (p.Gly2359Glu)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","1320130|NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","1339560|NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val)|single nucleotide variant|Likely pathogenic|MTOR|no assertion criteria provided|1","1685378|NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","2129739|NM_004958.4(MTOR):c.5664C>A (p.Phe1888Leu)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","2444379|NM_004958.4(MTOR):c.3945-26_4016dup|Duplication|Likely pathogenic|MTOR|criteria provided, single submitter|1","2672097|NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","3399624|NM_004958.4(MTOR):c.4250T>C (p.Ile1417Thr)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","3731617|NM_004958.4(MTOR):c.5408A>C (p.His1803Pro)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","376455|NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","3764881|NM_004958.4(MTOR):c.5917A>T (p.Ile1973Phe)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","3765844|NM_004958.4(MTOR):c.7535A>G (p.Asp2512Gly)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","3771641|NM_004958.4(MTOR):c.4550C>T (p.Ala1517Val)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","391346|NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","4279701|NM_004958.4(MTOR):c.6306C>A (p.Asp2102Glu)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","4293751|NM_004958.4(MTOR):c.4961T>C (p.Leu1654Pro)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","451914|NM_004958.4(MTOR):c.6643T>C (p.Ser2215Pro)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","4537408|NM_004958.4(MTOR):c.6659T>C (p.Leu2220Pro)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","871053|NM_004958.4(MTOR):c.5660G>T (p.Gly1887Val)|single nucleotide variant|Likely pathogenic|MTOR|criteria provided, single submitter|1","981173|NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)|single nucleotide variant|Likely pathogenic|MTOR|no assertion criteria provided|1","981174|NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)|single nucleotide variant|Likely pathogenic|MTOR|no assertion criteria provided|1","981175|NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)|single nucleotide variant|Likely pathogenic|MTOR|no assertion criteria provided|1"]}]}