{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":53,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:959","source":"HGNC:959|BCL2 associated X, apoptosis regulator","targets":["2260655|NM_138761.4(BAX):c.10T>C (p.Ser4Pro)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2301364|NM_138761.4(BAX):c.114G>T (p.Met38Ile)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2350019|NM_138761.4(BAX):c.43A>G (p.Ser15Gly)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2351869|NM_138761.4(BAX):c.7G>T (p.Gly3Trp)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2464866|NM_138761.4(BAX):c.474+76G>A|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2543287|NM_138761.4(BAX):c.196A>G (p.Ile66Val)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2543620|NM_138761.4(BAX):c.167C>A (p.Thr56Asn)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","2551376|NM_138761.4(BAX):c.173A>G (p.Lys58Arg)|single nucleotide variant|Likely benign|BAX|criteria provided, single submitter|19","3133019|NM_138761.4(BAX):c.114G>C (p.Met38Ile)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3133020|NM_138761.4(BAX):c.241G>C (p.Ala81Pro)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3133021|NM_138761.4(BAX):c.297G>C (p.Met99Ile)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3133022|NM_138761.4(BAX):c.474+95G>C|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3133023|NM_138761.4(BAX):c.474+151G>A|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3260470|NM_138761.4(BAX):c.167C>T (p.Thr56Ile)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3260471|NM_138761.4(BAX):c.278T>C (p.Phe93Ser)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3479791|NM_138761.4(BAX):c.322G>A (p.Gly108Ser)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3479792|NM_138761.4(BAX):c.400A>G (p.Arg134Gly)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3821105|NM_138761.4(BAX):c.474+34C>T|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3821108|NM_138761.4(BAX):c.404C>T (p.Thr135Ile)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3821116|NM_138761.4(BAX):c.259T>A (p.Ser87Thr)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3989049|NM_138761.4(BAX):c.337C>T (p.Leu113Phe)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","3989059|NM_138761.4(BAX):c.439C>T (p.Arg147Trp)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4196938|NM_138761.4(BAX):c.474+20C>A|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4196945|NM_138761.4(BAX):c.434G>A (p.Arg145Gln)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4196952|NM_138761.4(BAX):c.474+62C>T|single nucleotide variant|Likely benign|BAX|criteria provided, single submitter|19","4196960|NM_138761.4(BAX):c.474+3G>A|single nucleotide variant|Likely benign|BAX|criteria provided, single submitter|19","4196970|NM_138761.4(BAX):c.151C>G (p.Pro51Ala)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4196989|NM_138761.4(BAX):c.260C>G (p.Ser87Cys)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4197000|NM_138761.4(BAX):c.20A>G (p.Gln7Arg)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4278421|NM_138761.4(BAX):c.474+50_474+63del|Deletion|Likely pathogenic|BAX|criteria provided, single submitter|19","4442969|NM_138761.4(BAX):c.34+2T>G|single nucleotide variant||BAX||19","4442970|NM_138761.4(BAX):c.34+5G>T|single nucleotide variant||BAX||19","4442971|NM_138761.4(BAX):c.35-79G>A|single nucleotide variant||BAX||19","4442972|NM_138761.4(BAX):c.35-20T>G|single nucleotide variant||BAX||19","4442974|NM_138761.4(BAX):c.35-2A>G|single nucleotide variant||BAX||19","4442977|NM_138761.4(BAX):c.116G>T (p.Gly39Val)|single nucleotide variant||BAX||19","4442978|NM_138761.4(BAX):c.234-71G>A|single nucleotide variant||BAX||19","4442979|NM_138761.4(BAX):c.234-26G>A|single nucleotide variant||BAX||19","4442980|NM_138761.4(BAX):c.234-9C>G|single nucleotide variant||BAX||19","4442981|NM_138761.4(BAX):c.318C>G (p.Asn106Lys)|single nucleotide variant||BAX||19","4442982|NM_138761.4(BAX):c.369+2T>A|single nucleotide variant||BAX||19","4442984|NM_138761.4(BAX):c.474+251A>G|single nucleotide variant||BAX||19","4645215|NM_138761.4(BAX):c.362T>C (p.Val121Ala)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4645217|NM_138761.4(BAX):c.20A>T (p.Gln7Leu)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","4645218|NM_138761.4(BAX):c.119G>T (p.Gly40Val)|single nucleotide variant|Uncertain significance|BAX|criteria provided, single submitter|19","688109|GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3|copy number gain|Uncertain significance|BAX|no assertion criteria provided|19","721597|NM_138761.4(BAX):c.306C>T (p.Asp102=)|single nucleotide variant|Benign|BAX|criteria provided, multiple submitters, no conflicts|19","742552|NM_138761.4(BAX):c.501G>A (p.Thr167=)|single nucleotide variant|Likely benign|BAX|criteria provided, single submitter|19","784551|NM_138761.4(BAX):c.69G>A (p.Gly23=)|single nucleotide variant|Likely benign|BAX|criteria provided, single submitter|19","9511|NM_138761.4(BAX):c.121dup (p.Glu41fs)|Duplication|Uncertain significance|BAX|criteria provided, single submitter|19","9512|NM_138761.4(BAX):c.121del (p.Glu41fs)|Deletion|Pathogenic|BAX|no assertion criteria provided|19","9513|NM_138761.4(BAX):c.199G>A (p.Gly67Arg)|single nucleotide variant|Pathogenic|BAX|no assertion criteria provided|19","9514|NM_138761.4(BAX):c.115_121del (p.Gly39fs)|Deletion|Pathogenic|BAX|no assertion criteria provided|19"]}]}