{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":31,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:990","source":"HGNC:990|BCL2 apoptosis regulator","targets":["151208|GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3|copy number gain|Uncertain significance|BCL2|no assertion criteria provided|18","1514710|NC_000018.9:g.(?_59713089)_(61654512_?)dup|Duplication|Uncertain significance|BCL2|criteria provided, single submitter|18","155128|GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3|copy number gain|Likely pathogenic|BCL2|no assertion criteria provided|18","155380|GRCh38/hg38 18q21.33(chr18:63006378-63307284)x1|copy number loss|Uncertain significance|BCL2|no assertion criteria provided|18","2255117|NM_000633.3(BCL2):c.338C>A (p.Ala113Asp)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","253425|GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1|copy number loss|Pathogenic|BCL2|criteria provided, single submitter|18","3041306|NM_000633.3(BCL2):c.300C>T (p.Ala100=)|single nucleotide variant|Benign|BCL2|no assertion criteria provided|18","3060318|NM_000633.3(BCL2):c.21A>G (p.Thr7=)|single nucleotide variant|Benign|BCL2|no assertion criteria provided|18","3062371|GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3|copy number gain|Likely pathogenic|BCL2|criteria provided, single submitter|18","3133387|NM_000633.3(BCL2):c.458T>A (p.Phe153Tyr)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","3133388|NM_000633.3(BCL2):c.71C>T (p.Ser24Leu)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","3257818|NM_000633.3(BCL2):c.398T>C (p.Val133Ala)|single nucleotide variant||BCL2||18","3257819|NM_000633.3(BCL2):c.51G>C (p.Lys17Asn)|single nucleotide variant||BCL2||18","3257820|NM_000633.3(BCL2):c.39G>C (p.Glu13Asp)|single nucleotide variant||BCL2||18","3392183|GRCh37/hg19 18q21.33-22.1(chr18:60802235-61642539)x3|copy number gain|Uncertain significance|BCL2|criteria provided, single submitter|18","3480118|NM_000633.3(BCL2):c.496A>T (p.Met166Leu)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","3764977|NM_000633.3(BCL2):c.178G>A (p.Ala60Thr)|single nucleotide variant||BCL2||18","3764978|NM_000633.3(BCL2):c.-289C>G|single nucleotide variant||BCL2||18","3823783|NM_000633.3(BCL2):c.448T>C (p.Phe150Leu)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","4201278|NM_000633.3(BCL2):c.236G>A (p.Gly79Asp)|single nucleotide variant|Uncertain significance|BCL2|criteria provided, single submitter|18","4279397|GRCh37/hg19 18q21.33-22.1(chr18:60802235-61648719)x3|copy number gain|Uncertain significance|BCL2|criteria provided, single submitter|18","4432405|NM_000633.3(BCL2):c.*2309G>A|single nucleotide variant||BCL2||18","4432406|NM_000633.3(BCL2):c.*1836G>T|single nucleotide variant||BCL2||18","4432407|NM_000633.3(BCL2):c.586-10C>G|single nucleotide variant||BCL2||18","4432408|NM_000633.3(BCL2):c.585+61G>A|single nucleotide variant||BCL2||18","4432409|NM_000633.3(BCL2):c.585+59T>G|single nucleotide variant||BCL2||18","4432410|NM_000633.3(BCL2):c.585+8C>A|single nucleotide variant||BCL2||18","4432411|NM_000633.3(BCL2):c.-42C>T|single nucleotide variant||BCL2||18","4682938|GRCh37/hg19 18q21.33-22.1(chr18:60440410-64199966)x1|copy number loss|Uncertain significance|BCL2|criteria provided, single submitter|18","4682956|GRCh37/hg19 18q21.33-22.1(chr18:60643748-64474178)x3|copy number gain|Uncertain significance|BCL2|criteria provided, single submitter|18","709183|NM_000633.3(BCL2):c.459C>T (p.Phe153=)|single nucleotide variant|Likely benign|BCL2|criteria provided, single submitter|18"]}]}