{"context":{"query":">>mondo>>clinvar","source_dataset":"mondo","target_dataset":"clinvar"},"stats":{"queried":1,"total":85,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"MONDO:0007915","source":"MONDO:0007915|systemic lupus erythematosus","targets":["1192422|NM_001715.3(BLK):c.-1-105C>G|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","1192423|NM_001715.3(BLK):c.-1-53G>A|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","1192424|NM_001715.3(BLK):c.123+88G>T|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","1192425|NM_001715.3(BLK):c.176-104G>A|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","1192426|NM_001715.3(BLK):c.1030-38C>T|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","1192495|NM_001715.3(BLK):c.1313-28C>T|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","126389|NM_033629.6(TREX1):c.500del (p.Ser167fs)|Deletion|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","126393|NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)|Deletion|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","128525|NM_001715.3(BLK):c.102C>T (p.Asp34=)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","128526|NM_001715.3(BLK):c.258G>A (p.Gln86=)|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","128527|NM_001715.3(BLK):c.330T>C (p.Ser110=)|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","128528|NM_001715.3(BLK):c.435C>T (p.Ala145=)|single nucleotide variant|Benign|LOC126860303|criteria provided, multiple submitters, no conflicts|8","1330375|NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu)|single nucleotide variant|Pathogenic|TLR7|no assertion criteria provided|X","1341705|NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys)|single nucleotide variant|Uncertain significance|TLR7|criteria provided, multiple submitters, no conflicts|X","161109|NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)|single nucleotide variant|Pathogenic|CTLA4|reviewed by expert panel|2","1675085|NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)|single nucleotide variant|Uncertain significance|FCGR2A|criteria provided, single submitter|1","1675086|NM_001136219.3(FCGR2A):c.780+1G>A|single nucleotide variant|Uncertain significance|FCGR2A|criteria provided, multiple submitters, no conflicts|1","1676725|NM_001715.3(BLK):c.843T>G (p.Phe281Leu)|single nucleotide variant|association|BLK-AS1|no assertion criteria provided|8","1704361|NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)|single nucleotide variant|Uncertain significance|DNASE1|criteria provided, single submitter|16","209198|NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|TREX1|criteria provided, conflicting classifications|3","210528|NM_001715.3(BLK):c.713G>A (p.Arg238Gln)|single nucleotide variant|Benign/Likely benign|BLK-AS1|criteria provided, multiple submitters, no conflicts|8","225498|NM_033629.6(TREX1):c.290G>A (p.Arg97His)|single nucleotide variant|Conflicting classifications of pathogenicity|ATRIP-TREX1|criteria provided, conflicting classifications|3","225499|NM_033629.6(TREX1):c.294dup (p.Cys99fs)|Duplication|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","252650|NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|DNASE1|criteria provided, conflicting classifications|16","2542|NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|MEFV|criteria provided, conflicting classifications|16","258175|NM_001715.3(BLK):c.116C>T (p.Pro39Leu)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","258177|NM_001715.3(BLK):c.39G>A (p.Lys13=)|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","258178|NM_001715.3(BLK):c.472+12G>A|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","282766|NM_033629.6(TREX1):c.144dup (p.Thr49fs)|Duplication|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","282767|NM_033629.6(TREX1):c.152_153del (p.Gln51fs)|Deletion|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","2939141|NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)|Duplication|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","2944418|NM_033629.6(TREX1):c.703del (p.Val235fs)|Deletion|Conflicting classifications of pathogenicity|ATRIP|criteria provided, conflicting classifications|3","3065185|NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)|single nucleotide variant|Uncertain significance|DNASE1|criteria provided, single submitter|16","3067943|NM_005223.4(DNASE1):c.91C>T (p.Gln31Ter)|single nucleotide variant|Likely pathogenic|DNASE1|criteria provided, single submitter|16","3362521|NM_015967.8(PTPN22):c.91C>G (p.Leu31Val)|single nucleotide variant|Uncertain significance|AP4B1-AS1|criteria provided, single submitter|1","3391314|NM_005223.4(DNASE1):c.830T>C (p.Val277Ala)|single nucleotide variant|Uncertain significance|DNASE1|criteria provided, single submitter|16","3396|NM_001098629.3(IRF5):c.-12+198=|single nucleotide variant|Uncertain significance|IRF5|criteria provided, single submitter|7","3600502|NM_005223.4(DNASE1):c.620G>A (p.Arg207His)|single nucleotide variant|Uncertain significance|DNASE1|criteria provided, single submitter|16","3600510|NM_005223.4(DNASE1):c.772del (p.Gln258fs)|Deletion|Uncertain significance|DNASE1|criteria provided, single submitter|16","361475|NM_001715.3(BLK):c.177C>G (p.Asp59Glu)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","361476|NM_001715.3(BLK):c.187G>A (p.Val63Met)|single nucleotide variant|Conflicting classifications of pathogenicity|BLK|criteria provided, conflicting classifications|8","361484|NM_001715.3(BLK):c.672C>T (p.Ala224=)|single nucleotide variant|Conflicting classifications of pathogenicity|BLK|criteria provided, conflicting classifications|8","361485|NM_001715.3(BLK):c.711C>T (p.Pro237=)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","361486|NM_001715.3(BLK):c.753A>G (p.Gln251=)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","361487|NM_001715.3(BLK):c.879C>T (p.His293=)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","361491|NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|BLK|criteria provided, conflicting classifications|8","361498|NM_001715.3(BLK):c.*92G>C|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","361500|NM_001715.3(BLK):c.*176C>T|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","361506|NM_001715.3(BLK):c.*428G>A|single nucleotide variant|Benign|BLK|criteria provided, multiple submitters, no conflicts|8","374471|NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)|single nucleotide variant|Uncertain significance|TREX1|criteria provided, multiple submitters, no conflicts|3","381689|NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|ATRIP|criteria provided, conflicting classifications|3","4086267|NM_016562.4(TLR7):c.1520T>C (p.Phe507Ser)|single nucleotide variant|Pathogenic|TLR7|no assertion criteria provided|X","4179|NM_033629.6(TREX1):c.341G>A (p.Arg114His)|single nucleotide variant|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","4181|NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)|Duplication|Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","4183|NM_033629.6(TREX1):c.375dup (p.Gly126fs)|Duplication|Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","430906|NM_005214.5(CTLA4):c.118G>A (p.Val40Met)|single nucleotide variant|Conflicting classifications of pathogenicity|CTLA4|criteria provided, conflicting classifications|2","432079|NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)|single nucleotide variant|Likely pathogenic|CTLA4|reviewed by expert panel|2","453308|NM_001114753.3(ENG):c.816+6T>C|single nucleotide variant|Uncertain significance|ENG|criteria provided, single submitter|9","522920|NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|ATRIP|criteria provided, conflicting classifications|3","549527|NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)|single nucleotide variant|Benign/Likely benign|BLK|criteria provided, multiple submitters, no conflicts|8","570429|NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)|single nucleotide variant|Uncertain significance|TREX1|criteria provided, multiple submitters, no conflicts|3","574111|NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|CTLA4|criteria provided, conflicting classifications|2","619201|NM_001715.3(BLK):c.391C>T (p.Arg131Trp)|single nucleotide variant|Conflicting classifications of pathogenicity|BLK|criteria provided, conflicting classifications|8","619202|NM_001715.3(BLK):c.392G>A (p.Arg131Gln)|single nucleotide variant|Uncertain significance|LOC126860303|criteria provided, multiple submitters, no conflicts|8","619203|NM_001715.3(BLK):c.919C>G (p.Pro307Ala)|single nucleotide variant|Pathogenic|BLK-AS1|no assertion criteria provided|8","619204|NM_001715.3(BLK):c.1048T>C (p.Tyr350His)|single nucleotide variant|Pathogenic|BLK|no assertion criteria provided|8","619205|NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|BLK|criteria provided, conflicting classifications|8","619206|NM_001715.3(BLK):c.164A>G (p.His55Arg)|single nucleotide variant|Uncertain significance|BLK|criteria provided, multiple submitters, no conflicts|8","619207|NM_001715.3(BLK):c.252G>C (p.Lys84Asn)|single nucleotide variant|Uncertain significance|BLK|criteria provided, single submitter|8","619208|NM_001715.3(BLK):c.301G>A (p.Val101Ile)|single nucleotide variant|Benign|BLK|no assertion criteria provided|8","619209|NM_001715.3(BLK):c.344G>A (p.Arg115Gln)|single nucleotide variant|Uncertain significance|BLK|criteria provided, single submitter|8","619210|NM_017935.5(BANK1):c.120G>C (p.Trp40Cys)|single nucleotide variant|Benign/Likely benign|BANK1|criteria provided, multiple submitters, no conflicts|4","624024|NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)|single nucleotide variant|Uncertain significance|TREX1|criteria provided, multiple submitters, no conflicts|3","636389|NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)|single nucleotide variant|Pathogenic|CTLA4|reviewed by expert panel|2","647120|NM_033629.6(TREX1):c.250A>G (p.Ile84Val)|single nucleotide variant|Uncertain significance|TREX1|criteria provided, multiple submitters, no conflicts|3","810670|NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp)|single nucleotide variant|Uncertain significance|DNASE2|no assertion criteria provided|19","839889|NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)|Microsatellite|Pathogenic/Likely pathogenic|ATRIP|criteria provided, multiple submitters, no conflicts|3","930977|NM_033629.6(TREX1):c.856_865dup (p.Ala289fs)|Duplication|Pathogenic|TREX1|criteria provided, single submitter|3","931952|NM_033629.6(TREX1):c.1A>G (p.Met1Val)|single nucleotide variant|Conflicting classifications of pathogenicity|ATRIP|criteria provided, conflicting classifications|3","953494|NM_033629.6(TREX1):c.23dup (p.Pro10fs)|Duplication|Conflicting classifications of pathogenicity|TREX1|criteria provided, conflicting classifications|3","960475|NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)|single nucleotide variant|Uncertain significance|ATRIP|criteria provided, multiple submitters, no conflicts|3","96242|NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)|single nucleotide variant|Conflicting classifications of pathogenicity|ATRIP|criteria provided, conflicting classifications|3","973637|NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg)|single nucleotide variant|Benign/Likely benign|DNASE1|criteria provided, multiple submitters, no conflicts|16","977215|NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp)|single nucleotide variant|Pathogenic/Likely pathogenic|LOC130058479|no assertion criteria provided|16","977216|NM_003745.2(SOCS1):c.460T>C (p.Tyr154His)|single nucleotide variant|Pathogenic/Likely pathogenic|SOCS1|no assertion criteria provided|16"]}]}