{"context":{"query":">>mondo>>clinvar","source_dataset":"mondo","target_dataset":"clinvar"},"stats":{"queried":1,"total":24,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"MONDO:0005301","source":"MONDO:0005301|multiple sclerosis","targets":["1027084|NM_001374736.1(DST):c.15406T>G (p.Leu5136Val)|single nucleotide variant|Uncertain significance|DST|criteria provided, multiple submitters, no conflicts|6","12336|NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)|single nucleotide variant|Pathogenic|TNFRSF1A|criteria provided, multiple submitters, no conflicts|12","1442403|NM_005560.6(LAMA5):c.5512C>T (p.Arg1838Trp)|single nucleotide variant|Uncertain significance|LAMA5|criteria provided, multiple submitters, no conflicts|20","196717|NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)|single nucleotide variant|Likely benign|PLEC|criteria provided, multiple submitters, no conflicts|8","196854|NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)|single nucleotide variant|Uncertain significance|PLEC|criteria provided, multiple submitters, no conflicts|8","2063149|NM_201384.3(PLEC):c.12736C>T (p.Arg4246Cys)|single nucleotide variant|Uncertain significance|PLEC|criteria provided, multiple submitters, no conflicts|8","226296|NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln)|single nucleotide variant|Pathogenic|NR1H3|no assertion criteria provided|11","252602|NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|LAMB1|criteria provided, conflicting classifications|7","287621|NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp)|single nucleotide variant|Benign/Likely benign|PLEC|criteria provided, multiple submitters, no conflicts|8","289396|NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)|single nucleotide variant|Benign/Likely benign|ITPR1|criteria provided, multiple submitters, no conflicts|3","3257589|NM_133493.5(CD109):c.1709C>T (p.Pro570Leu)|single nucleotide variant|Likely benign|CD109|criteria provided, single submitter|6","357584|NM_001723.7(DST):c.3809A>G (p.Lys1270Arg)|single nucleotide variant|Benign/Likely benign|DST|criteria provided, multiple submitters, no conflicts|6","357589|NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)|single nucleotide variant|Conflicting classifications of pathogenicity|DST|criteria provided, conflicting classifications|6","357622|NM_001723.7(DST):c.25C>T (p.Arg9Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|DST|criteria provided, conflicting classifications|6","3600998|NM_201384.3(PLEC):c.3160C>A (p.Pro1054Thr)|single nucleotide variant|Likely pathogenic|PLEC|no assertion criteria provided|8","3600999|NM_001374736.1(DST):c.4322A>G (p.His1441Arg)|single nucleotide variant|Likely pathogenic|DST|no assertion criteria provided|6","3601000|NM_005560.6(LAMA5):c.4106G>A (p.Arg1369Gln)|single nucleotide variant|Uncertain significance|LAMA5|criteria provided, single submitter|20","3601001|NM_002291.3(LAMB1):c.2383C>T (p.Arg795Trp)|single nucleotide variant|Likely pathogenic|LAMB1|no assertion criteria provided|7","3601002|NM_201384.3(PLEC):c.934G>T (p.Glu312Ter)|single nucleotide variant|Likely pathogenic|PLEC|no assertion criteria provided|8","436328|NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)|single nucleotide variant|Conflicting classifications of pathogenicity|PLEC|criteria provided, conflicting classifications|8","471582|NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg)|single nucleotide variant|Benign/Likely benign|PLEC|criteria provided, multiple submitters, no conflicts|8","714023|NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys)|single nucleotide variant|Benign/Likely benign|ITGB4|criteria provided, multiple submitters, no conflicts|17","809956|NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|DST|criteria provided, conflicting classifications|6","809958|NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro)|single nucleotide variant|Uncertain significance|DST|criteria provided, multiple submitters, no conflicts|6"]}]}