{"context":{"query":">>mondo>>clinvar","source_dataset":"mondo","target_dataset":"clinvar"},"stats":{"queried":6,"total":19,"mapped":4},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"MONDO:0008143","source":"MONDO:0008143|osteoarthritis susceptibility 1","targets":["5220|NM_001463.4(FRZB):c.970C>G (p.Arg324Gly)|single nucleotide variant|Benign; risk factor|FRZB|no assertion criteria provided|2","5221|NM_001463.4(FRZB):c.598C>T (p.Arg200Trp)|single nucleotide variant|Benign; risk factor|FRZB|no assertion criteria provided|2"]},{"input":"MONDO:0007704","source":"MONDO:0007704|osteoarthritis susceptibility 2","targets":["2156741|NM_002381.5(MATN3):c.752T>C (p.Ile251Thr)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","2731695|NM_002381.5(MATN3):c.1324A>G (p.Thr442Ala)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","3585217|NM_002381.5(MATN3):c.34G>A (p.Gly12Arg)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","3891629|NM_002381.5(MATN3):c.1021G>T (p.Glu341Ter)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","3891631|NM_002381.5(MATN3):c.518C>G (p.Ala173Gly)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","3891632|NM_002381.5(MATN3):c.536G>A (p.Gly179Glu)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, single submitter|2","3891633|NC_000008.11:g.20335399_20335401del|Deletion|Uncertain significance||criteria provided, single submitter|8","7542|NM_002381.5(MATN3):c.908C>T (p.Thr303Met)|single nucleotide variant|Benign|MATN3|criteria provided, multiple submitters, no conflicts|2","930909|NM_002381.5(MATN3):c.868G>A (p.Glu290Lys)|single nucleotide variant|Uncertain significance|MATN3|criteria provided, multiple submitters, no conflicts|2","931804|NM_002381.5(MATN3):c.59TGC[3] (p.Leu23del)|Microsatellite|Likely pathogenic|MATN3|criteria provided, single submitter|2"]},{"input":"MONDO:0011923","source":"MONDO:0011923|osteoarthritis susceptibility 3","targets":["2527|NM_017680.6(ASPN):c.114TGA[15] (p.Asp50_Glu51insAspAsp)|Microsatellite|Benign|ASPN|criteria provided, single submitter|9"]},{"input":"MONDO:0012893","source":"MONDO:0012893|osteoarthritis susceptibility 5","targets":["1019956|NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)|Duplication|Uncertain significance|GDF5|criteria provided, multiple submitters, no conflicts|20","2631825|NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)|single nucleotide variant|Conflicting classifications of pathogenicity|GDF5|criteria provided, conflicting classifications|20","3065606|NM_000557.5(GDF5):c.303_317del (p.Gly102_Pro106del)|Deletion|Uncertain significance|GDF5|criteria provided, single submitter|20","3764682|NM_000557.5(GDF5):c.784del (p.Gln262fs)|Deletion|Likely pathogenic|GDF5|criteria provided, single submitter|20","817567|NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)|Duplication|Pathogenic/Likely pathogenic|GDF5|criteria provided, multiple submitters, no conflicts|20","8390|NM_000557.5(GDF5):c.-275=|single nucleotide variant|Benign|GDF5|criteria provided, multiple submitters, no conflicts|20"]}],"not_found":["MONDO:0012568","MONDO:0012894"]}