{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":33,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:6192","source":"HGNC:6192|Janus kinase 2","targets":["1181226|NM_004972.4(JAK2):c.1993-260G>C|single nucleotide variant|Benign|JAK2|criteria provided, single submitter|9","1328042|NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|JAK2|criteria provided, conflicting classifications|9","1336050|NM_004972.4(JAK2):c.1710C>T (p.Tyr570=)|single nucleotide variant|Likely benign|JAK2|criteria provided, multiple submitters, no conflicts|9","1337852|NM_004972.4(JAK2):c.995A>G (p.Asn332Ser)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, multiple submitters, no conflicts|9","134552|NM_004972.4(JAK2):c.2171T>C (p.Ile724Thr)|single nucleotide variant|Conflicting classifications of pathogenicity|JAK2|criteria provided, conflicting classifications|9","1707623|GRCh37/hg19 9p24.1(chr9:4961260-5071508)x1|copy number loss|Uncertain significance|JAK2|no assertion criteria provided|9","1899827|NM_004972.4(JAK2):c.936+13G>A|single nucleotide variant|Benign|JAK2|criteria provided, single submitter|9","2397682|NM_004972.4(JAK2):c.1936A>C (p.Asn646His)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, multiple submitters, no conflicts|9","2425249|NC_000009.11:g.(?_5021988)_(5126791_?)dup|Duplication|Uncertain significance|JAK2|criteria provided, single submitter|9","2574849|NM_004972.4(JAK2):c.2508del (p.Phe836fs)|Deletion|Uncertain significance|JAK2|criteria provided, single submitter|9","2637003|NM_004972.4(JAK2):c.1407G>T (p.Lys469Asn)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, multiple submitters, no conflicts|9","2682306|NC_000009.11:g.(4985631_4985939)_(5090912_5123003)dup|Duplication|Uncertain significance|JAK2|criteria provided, single submitter|9","2682406|NC_000009.11:g.(5090912_5123003)_(5129949_?)dup|Duplication|Uncertain significance|JAK2|criteria provided, single submitter|9","2710483|NM_004972.4(JAK2):c.2112T>C (p.Ile704=)|single nucleotide variant|Likely benign|JAK2|criteria provided, single submitter|9","2748717|NM_004972.4(JAK2):c.397C>T (p.Arg133Trp)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, multiple submitters, no conflicts|9","2838401|NM_004972.4(JAK2):c.594G>A (p.Leu198=)|single nucleotide variant|Likely benign|JAK2|criteria provided, single submitter|9","3018418|NM_004972.4(JAK2):c.1389C>T (p.Asn463=)|single nucleotide variant|Likely benign|JAK2|criteria provided, single submitter|9","3245330|NC_000009.11:g.(?_5090426)_(5126791_?)del|Deletion|Uncertain significance|JAK2|criteria provided, single submitter|9","3245331|NC_000009.11:g.(?_4984530)_(5022233_?)dup|Duplication|Uncertain significance|JAK2|criteria provided, single submitter|9","3245332|NC_000009.11:g.(?_5122984)_(5126791_?)dup|Duplication|Uncertain significance|JAK2|criteria provided, single submitter|9","3339703|NC_000009.11:g.(?_4985271)_(5129949_?)del|Deletion|Uncertain significance|JAK2|criteria provided, single submitter|9","3354839|NM_004972.4(JAK2):c.2959G>A (p.Glu987Lys)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, single submitter|9","3669258|NM_004972.4(JAK2):c.2772T>C (p.Asn924=)|single nucleotide variant|Likely benign|JAK2|criteria provided, single submitter|9","367116|NM_004972.4(JAK2):c.-138C>T|single nucleotide variant|Uncertain significance|JAK2|criteria provided, single submitter|9","3674365|NM_004972.4(JAK2):c.936+11A>G|single nucleotide variant|Likely benign|JAK2|criteria provided, single submitter|9","3767005|NM_004972.4(JAK2):c.2967_2968del (p.Arg989fs)|Microsatellite|Uncertain significance|JAK2|criteria provided, single submitter|9","376706|NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, multiple submitters, no conflicts|9","3899461|NM_004972.4(JAK2):c.1684G>A (p.Gly562Ser)|single nucleotide variant|Uncertain significance|JAK2|criteria provided, single submitter|9","4075419|JAK2, ARG715THR|single nucleotide variant|Uncertain significance|JAK2|no assertion criteria provided|","4356876|NM_004972.4(JAK2):c.-111C>T|single nucleotide variant||JAK2||9","563598|GRCh37/hg19 9p24.1(chr9:4883256-5037444)x1|copy number loss|Uncertain significance|JAK2|no assertion criteria provided|9","731438|NM_004972.4(JAK2):c.1439G>T (p.Cys480Phe)|single nucleotide variant|Likely benign|JAK2|criteria provided, multiple submitters, no conflicts|9","869413|t(3;9)(q13.31;p24.1)|Translocation|Likely pathogenic|JAK2|criteria provided, single submitter|3"]}]}