{"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:9588,10,HGNC:9588,103,5]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:9588","source":"HGNC:9588|phosphatase and tensin homolog","targets":["1014805|NM_000314.8(PTEN):c.801G>C (p.Lys267Asn)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1018969|NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)|Inversion|Pathogenic|PTEN|criteria provided, single submitter|10","1048543|NM_000314.8(PTEN):c.255_262delinsC (p.Ala86fs)|Indel|Pathogenic|PTEN|criteria provided, single submitter|10","1048544|NM_000314.8(PTEN):c.1110_1111dup (p.Asp371fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1067089|NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1067224|NM_000314.8(PTEN):c.523G>A (p.Val175Met)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1067457|NC_000010.10:g.(?_89685260)_(89685324_?)del|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1068214|NM_000314.8(PTEN):c.75G>C (p.Leu25Phe)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1068748|NM_000314.8(PTEN):c.440del (p.Lys147fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1069185|NC_000010.10:g.89711945_89711946insAlu|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","1069313|NM_000314.8(PTEN):c.224_233del (p.His75fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1069314|NM_000314.8(PTEN):c.502_503del (p.Ile168fs)|Deletion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1069418|NM_000314.8(PTEN):c.688_689dup (p.Pro231fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1069915|NM_000314.8(PTEN):c.184A>T (p.Lys62Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1070574|NM_000314.8(PTEN):c.158_162dup (p.Arg55Ter)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1070828|NM_000314.8(PTEN):c.49_61dup (p.Phe21fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1070951|NM_000314.8(PTEN):c.301del (p.Ile101fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1071470|NM_000314.8(PTEN):c.260_261dup (p.Tyr88fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1072116|NM_000314.8(PTEN):c.641del (p.Gln214fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1072117|NM_000314.8(PTEN):c.672dup (p.Tyr225fs)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1073539|NM_000314.8(PTEN):c.628del (p.Thr210fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1073577|NM_000314.8(PTEN):c.17_20dup (p.Ile8fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1074078|NM_000314.8(PTEN):c.304A>T (p.Lys102Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1074735|NM_000314.8(PTEN):c.989_992del (p.Lys330fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1075090|NM_000314.8(PTEN):c.785dup (p.Asn262fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1075679|NM_000314.8(PTEN):c.536_539dup (p.Tyr180Ter)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1075939|NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1076052|NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs)|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","1076154|NM_000314.8(PTEN):c.547_548del (p.Lys183fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1076438|NM_001304718.2(PTEN):c.-541-5533del|Deletion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1076578|NM_000314.8(PTEN):c.106_109del (p.Gly36fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1076749|NC_000010.10:g.(?_89685260)_(89725321_?)del|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1076750|NC_000010.10:g.(?_89690793)_(89693018_?)del|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1176553|NM_000314.8(PTEN):c.517C>G (p.Arg173Gly)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1182096|NM_000314.8(PTEN):c.209+4A>G|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1194164|NM_000314.8(PTEN):c.598_601del (p.Phe200fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1195176|NM_000314.8(PTEN):c.379G>T (p.Gly127Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1195871|NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1198486|NM_000314.8(PTEN):c.511C>A (p.Gln171Lys)|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1215488|NM_000314.8(PTEN):c.44_45del (p.Arg15fs)|Microsatellite|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1264324|NM_000314.8(PTEN):c.-136G>C|single nucleotide variant|Pathogenic|PTEN|no assertion criteria provided|10","127694|NM_000314.8(PTEN):c.884_885insTT (p.Cys296fs)|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","1317879|NM_000314.8(PTEN):c.634+1G>T|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1320095|NM_000314.8(PTEN):c.784_785del (p.Asn262fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1320461|NM_000314.8(PTEN):c.601G>T (p.Glu201Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1323504|NM_000314.8(PTEN):c.473_474del (p.Val158fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1330013|NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs)|Insertion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1332539|NM_000314.8(PTEN):c.159_163del (p.Arg55fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1338262|NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1339947|NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1372311|NM_000314.8(PTEN):c.641dup (p.Phe215fs)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1379224|NM_000314.8(PTEN):c.143A>G (p.Asn48Ser)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1382554|NM_000314.8(PTEN):c.561_567del (p.Tyr188fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1388819|NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1393293|NM_000314.8(PTEN):c.801+2T>C|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1396346|NM_000314.8(PTEN):c.685_688del (p.Ser229fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1397042|NM_000314.8(PTEN):c.920_921del (p.Glu307fs)|Microsatellite|Pathogenic|PTEN|criteria provided, single submitter|10","1405388|NM_000314.8(PTEN):c.623del (p.Gly208fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1407600|NM_000314.8(PTEN):c.141_160dup (p.Val54delinsGlyThrIleLeuMetMetTer)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","140898|NM_000314.8(PTEN):c.772_773del (p.Phe258fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1411709|NM_000314.8(PTEN):c.428dup (p.Lys144fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1414003|NM_000314.8(PTEN):c.546_547insCA (p.Lys183fs)|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","141485|NM_000314.8(PTEN):c.493-2A>G|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1414950|NM_000314.8(PTEN):c.304_307dup (p.Pro103fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1415847|NM_000314.8(PTEN):c.590del (p.Lys197fs)|Deletion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","141654|NM_000314.8(PTEN):c.50_51del (p.Gln17fs)|Deletion|Pathogenic|PTEN|reviewed by expert panel|10","142018|NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","142027|NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1421391|NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","1422470|NM_000314.8(PTEN):c.917_920dup (p.Glu307fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","142259|NM_000314.8(PTEN):c.741dup (p.Pro248fs)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","142261|NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1422662|NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","142269|NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1423416|NM_000314.8(PTEN):c.958_959del (p.Leu320fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1423454|NM_000314.8(PTEN):c.39_40dup (p.Arg14fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","142423|NM_000314.8(PTEN):c.802-2A>T|single nucleotide variant|Pathogenic|PTEN|reviewed by expert panel|10","1424596|NM_000314.8(PTEN):c.463del (p.Tyr155fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","142636|NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","142640|NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1433041|NM_000314.8(PTEN):c.111dup (p.Pro38fs)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1438433|NM_000314.8(PTEN):c.644_650del (p.Phe215fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1451490|NM_000314.8(PTEN):c.428del (p.Gly143fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1451593|NM_000314.8(PTEN):c.39_51del (p.Arg15fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1451626|NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter)|Duplication|Pathogenic|PTEN|criteria provided, single submitter|10","1451649|NM_000314.8(PTEN):c.634+2T>A|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1452192|NM_000314.8(PTEN):c.551del (p.Asn184fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1453936|NM_000314.8(PTEN):c.722_723insGG (p.Phe241fs)|Insertion|Pathogenic|PTEN|criteria provided, single submitter|10","1453956|NM_000314.8(PTEN):c.201dup (p.Tyr68fs)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1454161|NM_000314.8(PTEN):c.270del (p.Phe90fs)|Deletion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1455630|NM_000314.8(PTEN):c.721_730del (p.Phe241fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1456603|NM_000314.8(PTEN):c.674_675dup (p.Ser226fs)|Microsatellite|Pathogenic|PTEN|criteria provided, single submitter|10","1456749|NM_000314.8(PTEN):c.106G>T (p.Gly36Ter)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1457422|NC_000010.10:g.(?_89685260)_(89693018_?)del|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1457954|NM_000314.8(PTEN):c.3G>A (p.Met1Ile)|single nucleotide variant|Pathogenic|PTEN|criteria provided, single submitter|10","1458151|NC_000010.10:g.(?_89717600)_(89720885_?)del|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1458166|NM_000314.8(PTEN):c.38_51del (p.Lys13fs)|Deletion|Pathogenic|PTEN|criteria provided, single submitter|10","1458563|NM_000314.8(PTEN):c.511dup (p.Gln171fs)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1458931|NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)|Duplication|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1459040|NC_000010.11:g.87952119del|Deletion|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10"]}]}