{"context":{"query":">>mondo>>clinvar","source_dataset":"mondo","target_dataset":"clinvar"},"stats":{"queried":1,"total":76,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"MONDO:0011508","source":"MONDO:0011508|lymphoma, non-Hodgkin, familial","targets":["1012308|NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1020734|NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)|Duplication|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","1022083|NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1038223|NM_001083116.3(PRF1):c.83G>A (p.Arg28His)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","1039229|NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1042593|NM_032977.4(CASP10):c.922+5G>A|single nucleotide variant|Uncertain significance|CASP10|criteria provided, multiple submitters, no conflicts|2","1067731|NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1069592|NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1301336|NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","13709|NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","13717|NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","13721|NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)|Deletion|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1378862|NM_032977.4(CASP10):c.1415+2T>C|single nucleotide variant|Uncertain significance|CASP10|criteria provided, multiple submitters, no conflicts|2","1406224|NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","1437114|NM_001083116.3(PRF1):c.208G>A (p.Asp70Asn)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","1442436|NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","1493551|NM_001083116.3(PRF1):c.355C>T (p.Arg119Trp)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","1694127|NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","2073383|NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2136872|NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2498463|NM_001083116.3(PRF1):c.150del (p.Thr51fs)|Deletion|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2572579|NM_001083116.3(PRF1):c.806A>G (p.His269Arg)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","257401|NM_001083116.3(PRF1):c.435G>A (p.Val145=)|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","257404|NM_001083116.3(PRF1):c.539+22G>C|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","257406|NM_001083116.3(PRF1):c.726C>T (p.Cys242=)|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","257408|NM_001083116.3(PRF1):c.822C>T (p.Ala274=)|single nucleotide variant|Benign|PRF1|criteria provided, multiple submitters, no conflicts|10","257409|NM_001083116.3(PRF1):c.900C>T (p.His300=)|single nucleotide variant|Benign|PRF1|criteria provided, multiple submitters, no conflicts|10","2678050|NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)|Indel|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2678052|NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2678060|NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","280112|NM_001083116.3(PRF1):c.666C>A (p.His222Gln)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","2844361|NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","300331|NM_001083116.3(PRF1):c.695G>A (p.Arg232His)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","3362666|NM_003579.4(RAD54L):c.267T>G (p.Tyr89Ter)|single nucleotide variant|Likely pathogenic|RAD54L|criteria provided, single submitter|1","3596457|NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596496|NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)|Indel|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596505|NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596509|NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596511|NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)|Duplication|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596513|NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)|Deletion|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596517|NM_001083116.3(PRF1):c.242del (p.Gln81fs)|Deletion|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596547|NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, single submitter|10","3596558|NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)|single nucleotide variant|Likely pathogenic|PRF1|criteria provided, single submitter|10","3893029|NM_032977.4(CASP10):c.1415+5G>A|single nucleotide variant|Uncertain significance|CASP10|criteria provided, single submitter|2","3893030|NM_032977.4(CASP10):c.791_792del (p.Leu264fs)|Deletion|Uncertain significance|CASP10|criteria provided, single submitter|2","468301|NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","468302|NM_001083116.3(PRF1):c.1560C>T (p.Arg520=)|single nucleotide variant|Benign|PRF1|criteria provided, multiple submitters, no conflicts|10","468304|NM_001083116.3(PRF1):c.444C>T (p.Ala148=)|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","468305|NM_001083116.3(PRF1):c.50del (p.Leu17fs)|Deletion|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","468308|NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","468309|NM_001083116.3(PRF1):c.702G>A (p.Ser234=)|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","468311|NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","468312|NM_001083116.3(PRF1):c.96G>A (p.Lys32=)|single nucleotide variant|Benign/Likely benign|PRF1|criteria provided, multiple submitters, no conflicts|10","520942|NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","535760|NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs)|Deletion|Conflicting classifications of pathogenicity|CASP10|criteria provided, conflicting classifications|2","536220|NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","536223|NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","569038|NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)|single nucleotide variant|Uncertain significance|CASP10|criteria provided, multiple submitters, no conflicts|2","572555|NM_001083116.3(PRF1):c.570C>A (p.His190Gln)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","598223|NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","625903|NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile)|single nucleotide variant|Uncertain significance|CASP10|criteria provided, multiple submitters, no conflicts|2","639509|NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","644600|NM_001083116.3(PRF1):c.98G>A (p.Arg33His)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","652565|NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)|single nucleotide variant|Uncertain significance|BCL10|criteria provided, multiple submitters, no conflicts|1","656598|NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","658808|NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","662697|NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","789535|NM_001083116.3(PRF1):c.368G>A (p.Arg123His)|single nucleotide variant|Conflicting classifications of pathogenicity|PRF1|criteria provided, conflicting classifications|10","802581|NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","802582|NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","802583|NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)|single nucleotide variant|Pathogenic/Likely pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","834984|NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","931544|NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, single submitter|10","952308|NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)|single nucleotide variant|Uncertain significance|PRF1|criteria provided, multiple submitters, no conflicts|10","961631|NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)|single nucleotide variant|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10","971288|NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)|Microsatellite|Pathogenic|PRF1|criteria provided, multiple submitters, no conflicts|10"]}]}