{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Likely pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":41,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1787","source":"HGNC:1787|cyclin dependent kinase inhibitor 2A","targets":["1059393|NM_058195.4(CDKN2A):c.172C>T (p.Gln58Ter)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1215320|NM_000077.5(CDKN2A):c.281T>C (p.Leu94Pro)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1345910|NC_000009.11:g.(?_21990646)_(21994323_?)del|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1347045|NM_058195.4(CDKN2A):c.87_99del (p.Leu30fs)|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1467708|NM_000077.5(CDKN2A):c.157A>G (p.Met53Val)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1491259|NM_058195.4(CDKN2A):c.193+2T>C|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1497087|NM_058195.4(CDKN2A):c.55C>T (p.Arg19Ter)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1678127|NM_000077.5(CDKN2A):c.151-16_151-1del|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","1773995|NM_000077.5(CDKN2A):c.150+2T>G|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1786538|NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","182423|NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","186239|NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","187713|NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2136746|NM_000077.5(CDKN2A):c.251A>T (p.Asp84Val)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","230375|NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)|Indel|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","236980|NM_000077.5(CDKN2A):c.150+1del|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2449062|NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2573287|NM_000077.5(CDKN2A):c.150+1G>A|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2580261|NM_000077.5(CDKN2A):c.151-6_151delinsC|Indel|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2580262|NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)|Indel|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2680554|NM_000077.5(CDKN2A):c.182_185dup (p.Leu63fs)|Duplication|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","2680555|NM_000077.5(CDKN2A):c.225_243dup (p.Val82fs)|Duplication|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3489665|NM_000077.5(CDKN2A):c.243del (p.Val82fs)|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3779504|NM_000077.5(CDKN2A):c.230del (p.Thr77fs)|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3780841|NM_000077.5(CDKN2A):c.150+276T>G|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3780842|NM_058195.4(CDKN2A):c.194-3712_194-3710del|Microsatellite|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3903663|NM_000077.5(CDKN2A):c.267del (p.Phe90fs)|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3904703|NM_000077.5(CDKN2A):c.275del (p.Asp92fs)|Deletion|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","3904706|NM_000077.5(CDKN2A):c.220_221dup (p.Asp74fs)|Duplication|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","406707|NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","406712|NM_000077.5(CDKN2A):c.150+2T>C|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","418121|NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","429108|NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","429109|NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","463503|NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs)|Indel|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","491572|NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","545378|Single allele|Duplication|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","635368|NM_000077.5(CDKN2A):c.457+1G>A|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, single submitter|9","833629|NM_000077.5(CDKN2A):c.242C>T (p.Pro81Leu)|single nucleotide variant|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","969967|NM_058195.4(CDKN2A):c.193+1del|Deletion|Likely pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","977782|NM_000077.5(CDKN2A):c.233_234del (p.Leu78fs)|Microsatellite|Likely pathogenic|CDKN2A|no assertion criteria provided|9"]}]}