{"context":{"query":">>hgnc>>clinvar","source_dataset":"hgnc","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]HGNC:9588,10,HGNC:9588,157,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:9588","source":"HGNC:9588|phosphatase and tensin homolog","targets":["1000404|NM_000314.8(PTEN):c.978C>A (p.Asp326Glu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1001963|NM_000314.8(PTEN):c.758T>C (p.Ile253Thr)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1002697|NM_000314.8(PTEN):c.802-9_802-8insC|Insertion|Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10","1002716|NM_000314.8(PTEN):c.152A>G (p.Asp51Gly)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1003046|NM_000314.8(PTEN):c.515G>T (p.Arg172Met)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1003310|NM_000314.8(PTEN):c.31A>G (p.Arg11Gly)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1003503|NM_000314.8(PTEN):c.83T>G (p.Ile28Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1009027|NM_000314.8(PTEN):c.493-6C>G|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1009105|NM_000314.8(PTEN):c.492+5G>T|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1010008|NM_000314.8(PTEN):c.404T>C (p.Ile135Thr)|single nucleotide variant|Uncertain significance|PTEN|reviewed by expert panel|10","1010093|NM_000314.8(PTEN):c.956C>A (p.Thr319Asn)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1011929|NM_000314.8(PTEN):c.931_933del (p.Asn311del)|Deletion|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1012022|NM_000314.8(PTEN):c.643T>G (p.Phe215Val)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1012092|NM_000314.8(PTEN):c.113C>A (p.Pro38His)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1012142|NM_000314.8(PTEN):c.1026+5G>C|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1012208|NM_000314.8(PTEN):c.916dup (p.Ile306fs)|Duplication|Likely pathogenic|PTEN|criteria provided, single submitter|10","1013569|NM_000314.8(PTEN):c.-27T>C|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1013941|NM_000314.8(PTEN):c.1021T>A (p.Phe341Ile)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1014247|NM_000314.8(PTEN):c.597G>A (p.Met199Ile)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1014592|NM_000314.8(PTEN):c.583T>C (p.Phe195Leu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1014805|NM_000314.8(PTEN):c.801G>C (p.Lys267Asn)|single nucleotide variant|Pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1016051|NM_000314.8(PTEN):c.802-3_802-2insTA|Insertion|Uncertain significance|PTEN|criteria provided, single submitter|10","1016535|NM_000314.8(PTEN):c.706G>C (p.Asp236His)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1018223|NM_000314.8(PTEN):c.1027-72_1028del|Deletion|Uncertain significance|PTEN|criteria provided, single submitter|10","1018750|NM_000314.8(PTEN):c.801+4T>C|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1018969|NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)|Inversion|Pathogenic|PTEN|criteria provided, single submitter|10","1022675|NM_000314.8(PTEN):c.1090T>C (p.Ser364Pro)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1035121|NM_000314.8(PTEN):c.623G>A (p.Gly208Asp)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1036651|NM_000314.8(PTEN):c.401T>A (p.Met134Lys)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1037031|NM_000314.8(PTEN):c.1191T>G (p.His397Gln)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1037500|NM_000314.8(PTEN):c.472G>T (p.Val158Leu)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1039305|NM_000314.8(PTEN):c.1193C>T (p.Thr398Ile)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1040098|NM_000314.8(PTEN):c.164+10C>G|single nucleotide variant|Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10","1042020|NM_000314.8(PTEN):c.209+5G>C|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1042754|NM_000314.8(PTEN):c.631T>C (p.Cys211Arg)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1043062|NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1043063|NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)|single nucleotide variant|Likely pathogenic|PTEN|reviewed by expert panel|10","1043735|NM_000314.8(PTEN):c.74_79dup (p.Leu25_Thr26dup)|Duplication|Uncertain significance|PTEN|criteria provided, single submitter|10","1045279|NM_000314.8(PTEN):c.1041C>G (p.Phe347Leu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1046309|NC_000010.10:g.(?_89624218)_(89624340_?)dup|Duplication|Uncertain significance|PTEN|criteria provided, single submitter|10","1046897|NM_000314.8(PTEN):c.496G>T (p.Val166Leu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1047003|NM_000314.8(PTEN):c.318A>T (p.Glu106Asp)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1047317|NM_000314.8(PTEN):c.750_751insCAC (p.Cys250_Gly251insHis)|Insertion|Uncertain significance|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","1049233|NM_000314.8(PTEN):c.1083T>C (p.Ser361=)|single nucleotide variant|Uncertain significance|PTEN|no assertion criteria provided|10","1050413|NM_000314.8(PTEN):c.218A>G (p.Glu73Gly)|single nucleotide variant|Uncertain significance|PTEN|no assertion criteria provided|10","1052223|NM_000314.8(PTEN):c.89C>T (p.Pro30Leu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1052224|NM_000314.8(PTEN):c.158_159delinsAT (p.Val53Asp)|Indel|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1052858|NM_000314.8(PTEN):c.890A>G (p.Asp297Gly)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1053430|NM_000314.8(PTEN):c.133G>A (p.Val45Ile)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1056002|NM_000314.8(PTEN):c.978C>G (p.Asp326Glu)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1056826|NM_000314.8(PTEN):c.167T>G (p.Phe56Cys)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1061726|NM_000314.8(PTEN):c.487A>C (p.Lys163Gln)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, multiple submitters, no conflicts|10","1062913|NM_000314.8(PTEN):c.1159C>T (p.Pro387Ser)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1063157|NM_000314.8(PTEN):c.1072G>C (p.Glu358Gln)|single nucleotide variant|Uncertain significance|PTEN|criteria provided, single submitter|10","1064566|NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1065551|NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup|Duplication|Likely pathogenic|PTEN|criteria provided, single submitter|","1066560|NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter)|single nucleotide variant|Conflicting classifications of pathogenicity|PTEN|criteria provided, conflicting classifications|10","1066565|NM_000314.8(PTEN):c.746T>G (p.Val249Gly)|single nucleotide variant|Likely pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1066605|NM_000314.8(PTEN):c.80-2A>C|single nucleotide variant|Likely pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|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","1067478|NM_000314.8(PTEN):c.1026G>T (p.Lys342Asn)|single nucleotide variant|Likely pathogenic|PTEN|criteria provided, single submitter|10","1067498|NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)|single nucleotide variant|Pathogenic/Likely pathogenic|PTEN|criteria provided, multiple submitters, no conflicts|10","1067514|NM_000314.8(PTEN):c.1139del (p.Ser380fs)|Deletion|Likely pathogenic|PTEN|criteria provided, single submitter|10","1067874|NC_000010.10:g.(?_89711865)_(89712026_?)dup|Duplication|Likely pathogenic|PTEN|criteria provided, single submitter|10","1068027|NM_000314.8(PTEN):c.1137_1140del (p.Arg378_Tyr379insTer)|Deletion|Likely 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","1072198|NM_000314.8(PTEN):c.492+1G>C|single nucleotide variant|Pathogenic/Likely 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","1077370|NM_000314.8(PTEN):c.834C>T (p.Phe278=)|single nucleotide variant|Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10","1078708|NM_000314.8(PTEN):c.453C>T (p.Ala151=)|single nucleotide variant|Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10","1084665|NM_000314.8(PTEN):c.903T>C (p.Asp301=)|single nucleotide variant|Benign/Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10","1085522|NM_000314.8(PTEN):c.1044A>G (p.Thr348=)|single nucleotide variant|Benign/Likely benign|PTEN|criteria provided, multiple submitters, no conflicts|10"]}]}