{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:1787,10,HGNC:1787,63,18]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:1787","source":"HGNC:1787|cyclin dependent kinase inhibitor 2A","targets":["1068946|NM_000077.5(CDKN2A):c.34del (p.Ser12fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1069074|NM_000077.5(CDKN2A):c.126dup (p.Ser43Ter)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1070481|NC_000009.11:g.(?_21968228)_(22160087_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1072356|NM_058195.4(CDKN2A):c.126_127insCA (p.Val43fs)|Insertion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1075589|NM_000077.5(CDKN2A):c.204_205delinsTT (p.Glu69Ter)|Indel|Pathogenic|CDKN2A|criteria provided, single submitter|9","1076895|NC_000009.11:g.(?_21994128)_(21994330_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1171238|NM_000077.5(CDKN2A):c.106del (p.Ala36fs)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1409909|NM_000077.5(CDKN2A):c.95_112del (p.Leu32_Leu37del)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","142061|NM_000077.5(CDKN2A):c.47_50del (p.Leu16fs)|Microsatellite|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1454814|NM_000077.5(CDKN2A):c.76G>T (p.Glu26Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","1456941|NM_000077.5(CDKN2A):c.151-861_252del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1457805|NC_000009.11:g.(?_21970891)_(21975027_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1527514|GRCh37/hg19 9p21.3(chr9:21902071-22015434)|copy number loss|Pathogenic|CDKN2A|criteria provided, single submitter|9","1735064|NM_000077.5(CDKN2A):c.38_68del (p.Ala13fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1752844|NM_000077.5(CDKN2A):c.122_123delinsT (p.Pro41fs)|Indel|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1768251|NM_000077.5(CDKN2A):c.97dup (p.Glu33fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","1781307|NM_000077.5(CDKN2A):c.185_196delinsA (p.Leu62fs)|Indel|Pathogenic|CDKN2A|criteria provided, single submitter|9","1782299|NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","1789081|NM_000077.5(CDKN2A):c.228del (p.Thr77fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1797039|NM_000077.5(CDKN2A):c.286del (p.Val96fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","1801528|NM_000077.5(CDKN2A):c.458-521G>T|single nucleotide variant|Pathogenic|CDKN2A|no assertion criteria provided|9","182409|NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter)|Insertion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","182410|NM_000077.4:c.206_229delAGCCCAACTGCGCCGACCCCGinsCAG|Insertion|Pathogenic|CDKN2A|criteria provided, single submitter|","182412|NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","182416|NM_000077.5(CDKN2A):c.151-1G>C|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","183759|NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2000623|NM_000077.5(CDKN2A):c.287_291del (p.Val96fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2000887|NM_000077.5(CDKN2A):c.28G>T (p.Glu10Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","2146592|NM_000077.5(CDKN2A):c.387C>A (p.Tyr129Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","220711|NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","230340|NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","230421|NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","233503|NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","236984|NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2422309|NC_000009.11:g.(?_21970891)_(21973573_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2422310|NC_000009.11:g.(?_21968228)_(21971217_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2422311|NC_000009.11:g.(?_21971106)_(21972068_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2431281|NM_000077.5(CDKN2A):c.165C>T (p.Gly55=)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","2449063|NM_000077.5(CDKN2A):c.135dup (p.Arg46fs)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2573238|NM_058195.4(CDKN2A):c.106del (p.Ala36fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2625892|NM_000077.5(CDKN2A):c.299_303dup (p.Ala102fs)|Microsatellite|Pathogenic|CDKN2A|criteria provided, single submitter|9","2692898|NM_000077.5(CDKN2A):c.367del (p.His123fs)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2722325|NM_000077.5(CDKN2A):c.358G>T (p.Glu120Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","2763323|NM_000077.5(CDKN2A):c.455del (p.Pro151_Ser152insTer)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2769701|NM_000077.5(CDKN2A):c.381_391del (p.Tyr129fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2796337|NM_000077.5(CDKN2A):c.130del (p.Tyr44fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","279749|NM_000077.5(CDKN2A):c.307_308del (p.Arg103fs)|Microsatellite|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","2844477|NM_000077.5(CDKN2A):c.188_257del (p.Leu63fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2855411|NM_000077.5(CDKN2A):c.248_272del (p.His83fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","2866820|NM_000077.5(CDKN2A):c.120del (p.Pro41fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3230260|NM_000077.5(CDKN2A):c.47_51dup (p.Thr18fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","3236468|NM_000077.5(CDKN2A):c.83_100del (p.Val28_Glu33del)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3245175|NC_000009.11:g.(?_21973573)_(21975027_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3245178|NC_000009.11:g.(?_21971043)_(21981192_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3245179|NC_000009.11:g.(?_21971045)_(21981194_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3489666|NM_000077.5(CDKN2A):c.172del (p.Arg58fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3638796|NM_000077.5(CDKN2A):c.64del (p.Arg22fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3648010|NM_000077.5(CDKN2A):c.356_363del (p.Glu119fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","3657748|NM_000077.5(CDKN2A):c.168_198del (p.Ser56fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","37003|NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)|Duplication|Pathogenic|CDKN2A|no assertion criteria provided|9","376303|NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","376304|NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","376305|NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","376310|NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","394238|GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1|copy number loss|Pathogenic|CDKN2A|no assertion criteria provided|9","3999765|NM_000077.5(CDKN2A):c.274del (p.Asp92fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","406710|NM_000077.5(CDKN2A):c.358del (p.Glu120fs)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","4077026|NM_000077.5(CDKN2A):c.128_141dup (p.Pro48fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","417813|NC_000009.12:g.(?_21967752)_(21975133_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","4224771|NM_000077.5(CDKN2A):c.98_150+1488del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","4224777|NM_000077.5(CDKN2A):c.135_138del (p.Arg46fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","4224785|NM_000077.5(CDKN2A):c.328_329insA (p.Trp110Ter)|Insertion|Pathogenic|CDKN2A|criteria provided, single submitter|9","429111|NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","429112|NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","4294165|NM_058195.4(CDKN2A):c.169C>T (p.Gln57Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","4294179|NM_058195.4(CDKN2A):c.26_27dup (p.Arg10fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","4294202|NM_000077.5(CDKN2A):c.18del (p.Ser7fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","4294280|NM_000077.5(CDKN2A):c.68dup (p.Arg24fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","4294282|NM_000077.5(CDKN2A):c.73del (p.Arg24_Val25insTer)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","4633926|NM_000077.5(CDKN2A):c.171_172delinsTT (p.Arg58Ter)|Indel|Pathogenic|CDKN2A|criteria provided, single submitter|9","463460|NC_000009.12:g.(?_21970896)_(21974833_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","463461|NC_000009.12:g.(?_21994140)_(21994331_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","463493|NM_000077.5(CDKN2A):c.283del (p.Val95fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","463496|NM_000077.5(CDKN2A):c.30del (p.Glu10fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","463512|NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","483336|NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)|Duplication|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","483337|NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","566520|NM_000077.5(CDKN2A):c.221del (p.Asp74fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","571109|NM_000077.5(CDKN2A):c.197dup (p.His66fs)|Duplication|Pathogenic|CDKN2A|criteria provided, single submitter|9","572398|NM_000077.5(CDKN2A):c.69del (p.Arg24fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","579066|NM_000077.5(CDKN2A):c.238del (p.Arg80fs)|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","581437|NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, single submitter|9","583687|NC_000009.12:g.(?_21968219)_(21994341_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","625554|GRCh37/hg19 9p21.3(chr9:20715401-22136489)|copy number loss|Pathogenic|CDKN2A|criteria provided, single submitter|9","630390|NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","635365|NM_000077.5(CDKN2A):c.151-1G>A|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","644262|NM_000077.5(CDKN2A):c.189del (p.Leu64fs)|Deletion|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","655275|NM_000077.5(CDKN2A):c.132C>A (p.Tyr44Ter)|single nucleotide variant|Pathogenic|CDKN2A|criteria provided, multiple submitters, no conflicts|9","657920|NC_000009.12:g.(?_21994129)_(21994341_?)del|Deletion|Pathogenic|CDKN2A|criteria provided, single submitter|9","659927|NM_000077.5(CDKN2A):c.41_43delinsG (p.Asp14fs)|Indel|Pathogenic|CDKN2A|criteria provided, single submitter|9"]}]}