{"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:11998,10,HGNC:11998,26,8]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:11998","source":"HGNC:11998|tumor protein p53","targets":["1012210|NM_000546.6(TP53):c.825T>A (p.Cys275Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, single submitter|17","1024056|NM_000546.6(TP53):c.687_695del (p.Thr230_Ile232del)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1045295|NM_000546.6(TP53):c.653_655del (p.Val218_Pro219delinsAla)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1050359|NM_000546.6(TP53):c.731del (p.Gly244fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1052035|NM_000546.6(TP53):c.737_745del (p.Met246_Arg248del)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1066819|NC_000017.10:g.(?_7571752)_(7574043_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1067910|NM_000546.6(TP53):c.472C>A (p.Arg158Ser)|single nucleotide variant|Pathogenic|TP53|criteria provided, single submitter|17","1068484|NM_000546.6(TP53):c.919+1del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1068801|NM_000546.6(TP53):c.801del (p.Asn268fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1068830|NM_000546.6(TP53):c.872_890dup (p.His297fs)|Duplication|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1069164|NC_000017.10:g.(?_7571752)_(7579912_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1069165|NC_000017.10:g.(?_7579291)_(7579404_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1069225|NM_000546.6(TP53):c.425del (p.Pro142fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1069253|NM_000546.6(TP53):c.268_269insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (p.Ser90fs)|Microsatellite|Pathogenic|TP53|criteria provided, single submitter|17","1069265|NM_000546.6(TP53):c.403del (p.Cys135fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1069305|NM_000546.6(TP53):c.702C>G (p.Tyr234Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1070469|NM_000546.6(TP53):c.205del (p.Ala69fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1070690|NM_000546.6(TP53):c.690_702del (p.Ile232fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1070793|NM_000546.6(TP53):c.119dup (p.Met40fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1071474|NM_000546.6(TP53):c.662_666del (p.Glu221fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1071800|NM_000546.6(TP53):c.245del (p.Pro82fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1071812|NM_000546.6(TP53):c.665dup (p.Pro223fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1072958|NM_000546.6(TP53):c.1014dup (p.Glu339fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1073381|NM_000546.6(TP53):c.321C>G (p.Tyr107Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1073670|NM_000546.6(TP53):c.458_462dup (p.Thr155fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1074338|NM_000546.6(TP53):c.723del (p.Cys242fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1075116|NM_000546.6(TP53):c.93del (p.Leu32fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075217|NC_000017.10:g.(?_7577489)_(7577647_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075218|NC_000017.10:g.(?_7577009)_(7579922_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075219|NC_000017.10:g.(?_7571752)_(7606804_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075220|NC_000017.10:g.(?_7572921)_(7591661_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075221|NC_000017.10:g.(?_7578129)_(7593029_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075222|NC_000017.10:g.(?_7589449)_(7591611_?)del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075308|NM_000546.6(TP53):c.375+2_375+15del|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1075711|NM_000546.6(TP53):c.958A>T (p.Lys320Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1076187|NM_000546.6(TP53):c.581_585del (p.Leu194fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1076516|NM_000546.6(TP53):c.814_826del (p.Val272fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1076652|NM_000546.6(TP53):c.690del (p.Thr231fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1076864|NM_000546.6(TP53):c.527_528insT (p.His178fs)|Insertion|Pathogenic|TP53|criteria provided, single submitter|17","1174011|NM_000546.6(TP53):c.-19_*21del (p.Met1fs)|Deletion|Pathogenic|TP53|no assertion criteria provided|17","1174012|NM_000546.6(TP53):c.811G>T (p.Glu271Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1189743|NM_000546.6(TP53):c.560-2A>C|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1210292|NM_000546.6(TP53):c.376-1G>T|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","12347|NM_000546.6(TP53):c.742C>T (p.Arg248Trp)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","12349|NM_000546.6(TP53):c.733G>T (p.Gly245Cys)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","12356|NM_000546.6(TP53):c.743G>A (p.Arg248Gln)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","12357|NM_000546.6(TP53):c.398T>C (p.Met133Thr)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","12361|NM_000546.6(TP53):c.628_629del (p.Asn210fs)|Deletion|Pathogenic|TP53|no assertion criteria provided|17","12363|NM_000546.6(TP53):c.358A>T (p.Lys120Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, single submitter|17","12365|NM_000546.6(TP53):c.733G>A (p.Gly245Ser)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","12366|NM_000546.6(TP53):c.818G>A (p.Arg273His)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","12373|TP53, 1-BP DEL, CODON 257|Deletion|Pathogenic|TP53|no assertion criteria provided|","12374|NM_000546.6(TP53):c.524G>A (p.Arg175His)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","12377|NM_000546.6(TP53):c.532del (p.His178fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","12380|NM_000546.6(TP53):c.475_481dup (p.Ala161fs)|Duplication|Pathogenic|TP53|no assertion criteria provided|17","12381|TP53, 11-BP DEL/5-BP INS|Indel|Pathogenic|TP53|no assertion criteria provided|","12383|NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","12384|NM_000546.6(TP53):c.854A>T (p.Glu285Val)|single nucleotide variant|Pathogenic|TP53|criteria provided, single submitter|17","127807|NM_000546.6(TP53):c.328del (p.Arg110fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","127809|NM_000546.6(TP53):c.365_366del (p.Val122fs)|Microsatellite|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","127814|NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","127819|NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","1319403|NM_000546.6(TP53):c.148dup (p.Ile50fs)|Duplication|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1328513|NM_000546.5:c.-28_672dup|Duplication|Pathogenic|TP53|criteria provided, single submitter|","1331829|NM_000546.6(TP53):c.891dup (p.Glu298fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1332246|NM_000546.6(TP53):c.294_298del (p.Ser99fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1341341|NM_000546.6(TP53):c.72dup (p.Leu25fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1345664|NM_000546.6(TP53):c.535_549del (p.His179_Ser183del)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1361331|NM_000546.6(TP53):c.981T>A (p.Tyr327Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1363662|NM_000546.6(TP53):c.262del (p.Ala88fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1366432|NM_000546.6(TP53):c.388del (p.Leu130fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1372143|NM_000546.6(TP53):c.688_699del (p.Thr230_His233del)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1378020|NM_000546.6(TP53):c.990del (p.Gln331fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1389237|NM_000546.6(TP53):c.902dup (p.Gly302fs)|Duplication|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1391019|NM_000546.6(TP53):c.945_946del (p.Gln317fs)|Microsatellite|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1394451|NM_000546.6(TP53):c.173del (p.Pro58fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1396062|NM_000546.6(TP53):c.224del (p.Pro75fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1396578|NM_000546.6(TP53):c.304dup (p.Thr102fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1397281|NM_000546.6(TP53):c.479_503del (p.Met160fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1400022|NM_000546.6(TP53):c.254dup (p.Ala86fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1400613|NM_000546.6(TP53):c.768_769del (p.Leu257fs)|Microsatellite|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","140821|NM_000546.6(TP53):c.844C>G (p.Arg282Gly)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","141141|NM_000546.6(TP53):c.842A>G (p.Asp281Gly)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","141377|NM_000546.6(TP53):c.920-1G>A|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1414190|NM_000546.6(TP53):c.720_721insGCATCCACTACAACTACATGTGTAACAGT (p.Ser241fs)|Insertion|Pathogenic|TP53|criteria provided, single submitter|17","141756|NM_000546.6(TP53):c.808_817del (p.Phe270fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","141988|NM_000546.6(TP53):c.391A>T (p.Asn131Tyr)|single nucleotide variant|Pathogenic|TP53|criteria provided, single submitter|17","1420489|NM_000546.6(TP53):c.227dup (p.Pro77fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","142144|NM_000546.6(TP53):c.916C>T (p.Arg306Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1421837|NM_000546.6(TP53):c.489C>A (p.Tyr163Ter)|single nucleotide variant|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","142337|NM_000546.6(TP53):c.447_459del (p.Thr150fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","1425093|NM_000546.6(TP53):c.945dup (p.Pro316fs)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","142536|NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","142643|NM_000546.6(TP53):c.155_157dup (p.Trp53Ter)|Duplication|Pathogenic|TP53|criteria provided, single submitter|17","1426924|NM_000546.6(TP53):c.109_124del (p.Ser37fs)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17","142697|NM_000546.6(TP53):c.137delinsGT (p.Ser46fs)|Indel|Pathogenic|TP53|criteria provided, single submitter|17","142714|NM_000546.6(TP53):c.711G>A (p.Met237Ile)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","142766|NM_000546.6(TP53):c.455C>T (p.Pro152Leu)|single nucleotide variant|Pathogenic|TP53|reviewed by expert panel|17","1447671|NM_000546.6(TP53):c.80del (p.Pro27fs)|Deletion|Pathogenic|TP53|criteria provided, multiple submitters, no conflicts|17","1448137|NM_000546.6(TP53):c.645_647del (p.Ser215_Val216delinsArg)|Deletion|Pathogenic|TP53|criteria provided, single submitter|17"]}]}