{"context":{"query":">>hgnc>>clinvar[germline_classification==\"Pathogenic\"]","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":66,"mapped":1},"pagination":{"has_next":false},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:15979","source":"HGNC:15979|tumor protein p63","targets":["1018494|NM_003722.5(TP63):c.796C>T (p.Arg266Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1024583|NM_003722.5(TP63):c.1861del (p.Ser621fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","1062831|NM_003722.5(TP63):c.1050A>T (p.Arg350Ser)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1451175|NM_003722.5(TP63):c.328C>T (p.Gln110Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1451179|NM_003722.5(TP63):c.1695C>A (p.Phe565Leu)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","1454691|NM_003722.5(TP63):c.1583dup (p.Leu529fs)|Duplication|Pathogenic|TP63|criteria provided, single submitter|3","1677243|NM_003722.5(TP63):c.290G>C (p.Arg97Pro)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","1677244|NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","194382|NM_003722.5(TP63):c.1837_1841del (p.Pro613fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","2079999|NM_003722.5(TP63):c.1735del (p.Tyr579fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","208163|NM_003722.5(TP63):c.740A>G (p.His247Arg)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","208418|NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","2446718|NM_003722.5(TP63):c.1703del (p.Gln568fs)|Deletion|Pathogenic|TP63|no assertion criteria provided|3","2579607|NM_003722.5(TP63):c.1039T>C (p.Cys347Arg)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","265276|NM_003722.5(TP63):c.956G>A (p.Arg319His)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","2710369|NM_003722.5(TP63):c.2014C>T (p.Gln672Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","2734605|NM_003722.5(TP63):c.518G>A (p.Gly173Asp)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","2734606|NM_003722.5(TP63):c.932G>A (p.Ser311Asn)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","279913|NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","3600613|NM_003722.5(TP63):c.580-2A>G|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","3602195|NM_003722.5(TP63):c.1654T>G (p.Phe552Val)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","3650569|NM_003722.5(TP63):c.1851del (p.Arg618fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","3659797|NM_003722.5(TP63):c.566C>A (p.Ser189Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","3695316|NM_003722.5(TP63):c.653dup (p.Pro219fs)|Duplication|Pathogenic|TP63|criteria provided, single submitter|3","372540|NM_003722.5(TP63):c.1727T>C (p.Ile576Thr)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","3729545|NM_003722.5(TP63):c.1999del (p.Ala667fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","379608|NM_003722.5(TP63):c.935G>A (p.Cys312Tyr)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","379830|NM_003722.5(TP63):c.547C>T (p.Gln183Ter)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","3809728|NM_003722.5(TP63):c.1050A>C (p.Arg350Ser)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","3897228|NM_003722.5(TP63):c.858_859delinsCTTCCTG (p.Leu287fs)|Indel|Pathogenic|TP63|criteria provided, single submitter|3","4056841|NM_003722.5(TP63):c.731G>A (p.Cys244Tyr)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","4075221|NM_001114980.2(TP63):c.2T>G (p.Met1Arg)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","418520|NM_003722.5(TP63):c.1040G>T (p.Cys347Phe)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","4281850|NM_003722.5(TP63):c.883-1G>A|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","430080|NM_003722.5(TP63):c.518G>T (p.Gly173Val)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","449513|NM_001114980.2(TP63):c.26del (p.Gln9fs)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","544362|NM_003722.5(TP63):c.1799G>A (p.Gly600Asp)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","544363|NM_003722.5(TP63):c.1063G>A (p.Asp355Asn)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","571116|NM_003722.5(TP63):c.698_700del (p.Lys233_Ala234delinsThr)|Deletion|Pathogenic|TP63|criteria provided, single submitter|3","573933|NM_003722.5(TP63):c.694A>G (p.Lys232Glu)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","576556|NM_003722.5(TP63):c.1350-2A>G|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","585267|NM_003722.5(TP63):c.819_820dup (p.Gln274fs)|Duplication|Pathogenic|TP63|no assertion criteria provided|3","619065|NM_003722.5(TP63):c.1780C>T (p.Arg594Ter)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","619066|NM_003722.5(TP63):c.1794G>A (p.Trp598Ter)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","635754|NM_003722.5(TP63):c.1350-75_1492del|Deletion|Pathogenic|TP63|no assertion criteria provided|3","650415|NM_003722.5(TP63):c.1693T>G (p.Phe565Val)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","650760|NM_003722.5(TP63):c.952C>T (p.Arg318Cys)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","6527|NM_003722.5(TP63):c.727C>T (p.Arg243Trp)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","6529|NM_003722.5(TP63):c.1033T>C (p.Cys345Arg)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6530|NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)|Duplication|Pathogenic|TP63|no assertion criteria provided|3","6531|NM_003722.5(TP63):c.697A>G (p.Lys233Glu)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6532|NM_003722.5(TP63):c.955C>T (p.Arg319Cys)|single nucleotide variant|Pathogenic|TP63|criteria provided, multiple submitters, no conflicts|3","6535|NM_003722.5(TP63):c.1659A>T (p.Leu553Phe)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6537|NM_001114980.2(TP63):c.16A>C (p.Asn6His)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6538|NM_003722.5(TP63):c.1693_1694del (p.Phe565fs)|Deletion|Pathogenic|TP63|no assertion criteria provided|3","6541|NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","6542|NM_003722.5(TP63):c.1827del (p.Glu609fs)|Deletion|Pathogenic|TP63|no assertion criteria provided|3","6543|NM_003722.5(TP63):c.1976del (p.Asn659fs)|Deletion|Pathogenic|TP63|no assertion criteria provided|3","6544|NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6545|NM_003722.5(TP63):c.1738T>C (p.Ser580Pro)|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|3","6546|TP63, VAL114MET|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|","6548|NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3","6551|NM_003722.5(TP63):c.1900del (p.Arg634fs)|Deletion|Pathogenic|TP63|no assertion criteria provided|3","6552|P127L|single nucleotide variant|Pathogenic|TP63|no assertion criteria provided|","6553|NM_003722.5(TP63):c.1833_1843dup (p.His615fs)|Duplication|Pathogenic|TP63|no assertion criteria provided|3","807713|NM_003722.5(TP63):c.1790T>C (p.Ile597Thr)|single nucleotide variant|Pathogenic|TP63|criteria provided, single submitter|3"]}]}