{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":23,"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":["1296989|NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","1339561|NM_004958.4(MTOR):c.257del (p.Gly86fs)|Deletion|Pathogenic|MTOR|no assertion criteria provided|1","156702|NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","156703|NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","156709|NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)|single nucleotide variant|Pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","190121|NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","217823|NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)|single nucleotide variant|Pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","224088|NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","242349|NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)|single nucleotide variant|Pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","2579952|NM_004958.4(MTOR):c.4184A>G (p.Lys1395Arg)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","2672094|NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","374796|NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","376129|NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","376130|NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","376453|NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","3774491|NM_004958.4(MTOR):c.4348T>G (p.Tyr1450Asp)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","4056380|NM_004958.4(MTOR):c.7289G>C (p.Arg2430Thr)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1","417723|NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)|single nucleotide variant|Pathogenic|MTOR|reviewed by expert panel|1","417724|NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln)|single nucleotide variant|Pathogenic|MTOR|no assertion criteria provided|1","417727|NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly)|single nucleotide variant|Pathogenic|MTOR|no assertion criteria provided|1","520633|NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)|single nucleotide variant|Pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","584432|NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)|single nucleotide variant|Pathogenic|MTOR|criteria provided, multiple submitters, no conflicts|1","981176|NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)|single nucleotide variant|Pathogenic|MTOR|criteria provided, single submitter|1"]}]}