{"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:8975,10,HGNC:8975,45,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"HGNC:8975","source":"HGNC:8975|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","targets":["1000854|NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1001006|NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1001114|NM_006218.4(PIK3CA):c.2187+3G>A|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1002337|NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1003961|NC_000003.11:g.(?_178916608)_(178952158_?)dup|Duplication|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1003976|NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1005328|NM_006218.4(PIK3CA):c.910A>G (p.Met304Val)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1006152|NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1006390|NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1008145|NM_006218.4(PIK3CA):c.2785-4A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1009802|NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)|single nucleotide variant|Conflicting classifications of pathogenicity|PIK3CA|criteria provided, conflicting classifications|3","1010336|NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1011496|NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1014981|NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1015501|NC_000003.11:g.(?_178935988)_(178952152_?)dup|Duplication|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1016397|NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1026446|NM_006218.4(PIK3CA):c.2595C>T (p.Gly865=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1026984|NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1034256|NM_006218.4(PIK3CA):c.1610G>A (p.Arg537Gln)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1035797|NM_006218.4(PIK3CA):c.2056C>A (p.Leu686Met)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1038379|NM_006218.4(PIK3CA):c.1324G>A (p.Ala442Thr)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1038463|NM_006218.4(PIK3CA):c.1749G>T (p.Met583Ile)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1038606|NM_006218.4(PIK3CA):c.2042G>C (p.Ser681Thr)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1040039|NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1047124|NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1047316|NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile)|Indel|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1051843|NM_006218.4(PIK3CA):c.2365A>G (p.Met789Val)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1057635|NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)|single nucleotide variant|Pathogenic/Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1059107|NM_006218.4(PIK3CA):c.2381T>A (p.Phe794Tyr)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1059613|NM_006218.4(PIK3CA):c.1580A>G (p.Asp527Gly)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1060276|NM_006218.4(PIK3CA):c.312A>G (p.Pro104=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1064232|NM_006218.4(PIK3CA):c.373G>A (p.Val125Met)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1090049|NM_006218.4(PIK3CA):c.825C>T (p.Ser275=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1092397|NM_006218.4(PIK3CA):c.814-4A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1095283|NM_006218.4(PIK3CA):c.171C>G (p.Pro57=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1096340|NM_006218.4(PIK3CA):c.2416+10A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1097611|NM_006218.4(PIK3CA):c.2103C>T (p.His701=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1098323|NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)|single nucleotide variant|Pathogenic/Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1102077|NM_006218.4(PIK3CA):c.2421A>G (p.Leu807=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1102628|NM_006218.4(PIK3CA):c.489A>G (p.Ala163=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1107558|NM_006218.4(PIK3CA):c.267T>G (p.Leu89=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1108707|NM_006218.4(PIK3CA):c.1071A>G (p.Arg357=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1108875|NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1111457|NM_006218.4(PIK3CA):c.2666+10A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1112950|NM_006218.4(PIK3CA):c.3081C>G (p.Ala1027=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1114732|NM_006218.4(PIK3CA):c.3042A>G (p.Gln1014=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1114952|NM_006218.4(PIK3CA):c.352+10A>C|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1119657|NM_006218.4(PIK3CA):c.2188-7T>A|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1120857|NM_006218.4(PIK3CA):c.1911+8A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1121967|NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1123627|NM_006218.4(PIK3CA):c.2629C>T (p.Leu877=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1127005|NM_006218.4(PIK3CA):c.61C>T (p.Leu21=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1128268|NM_006218.4(PIK3CA):c.417C>T (p.Phe139=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1128451|NM_006218.4(PIK3CA):c.2028C>T (p.His676=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1128943|NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1129558|NM_006218.4(PIK3CA):c.402A>T (p.Pro134=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1129752|NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1130243|NM_006218.4(PIK3CA):c.2550G>A (p.Val850=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1130778|NM_006218.4(PIK3CA):c.2268C>T (p.Asn756=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1131464|NM_006218.4(PIK3CA):c.2331G>A (p.Arg777=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1133051|NM_006218.4(PIK3CA):c.228A>G (p.Glu76=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1135796|NM_006218.4(PIK3CA):c.1776A>C (p.Pro592=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1136638|NM_006218.4(PIK3CA):c.1747-8A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1136944|NM_006218.4(PIK3CA):c.1653A>G (p.Leu551=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1140573|NM_006218.4(PIK3CA):c.1145+9G>A|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1140920|NM_006218.4(PIK3CA):c.30G>A (p.Leu10=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1141394|NM_006218.4(PIK3CA):c.1145+9G>T|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1147484|NM_006218.4(PIK3CA):c.1060-18_1060-17delinsAA|Indel|Likely benign|PIK3CA|criteria provided, single submitter|3","1148862|NM_006218.4(PIK3CA):c.480T>C (p.His160=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1149240|NM_006218.4(PIK3CA):c.705C>T (p.Ser235=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1150470|NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1153278|NM_006218.4(PIK3CA):c.2946G>A (p.Glu982=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1154938|NM_006218.4(PIK3CA):c.2523C>T (p.Ile841=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1157452|NM_006218.4(PIK3CA):c.895A>G (p.Met299Val)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1160398|NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=)|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1170620|NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=)|single nucleotide variant|Benign/Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1172582|NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)|single nucleotide variant|Pathogenic/Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1172583|NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)|single nucleotide variant|Pathogenic|PIK3CA|criteria provided, single submitter|3","1177432|NM_006218.4(PIK3CA):c.3202_3205delinsCTGATAACTGAGAAAATAACTGATAAAATGAAACTGA (p.Asn1068_Ter1069delinsLeuIleThrGluLysIleThrAspLysMetLysLeuArg)|Indel|Pathogenic|PIK3CA|no assertion criteria provided|3","1178127|NM_006218.4(PIK3CA):c.1059+261T>C|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1178257|NM_006218.4(PIK3CA):c.1146-272C>A|single nucleotide variant|Benign|PIK3CA|criteria provided, single submitter|3","1181592|NM_006218.4(PIK3CA):c.-76-19T>C|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1183698|NM_006218.4(PIK3CA):c.2666+95A>C|single nucleotide variant|Benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1186706|NM_006218.4(PIK3CA):c.2204T>C (p.Leu735Ser)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, single submitter|3","1189247|NM_006218.4(PIK3CA):c.814-304G>A|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1189751|NM_006218.4(PIK3CA):c.813+119G>A|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1189789|NM_006218.4(PIK3CA):c.*10del|Deletion|Likely benign|PIK3CA|criteria provided, single submitter|3","1189906|NM_006218.4(PIK3CA):c.-76-34C>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1191222|NM_006218.4(PIK3CA):c.1251+157C>T|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1191500|NM_006218.4(PIK3CA):c.1404+42_1404+44del|Deletion|Likely benign|PIK3CA|criteria provided, single submitter|3","1192889|NM_006218.4(PIK3CA):c.2666+59C>T|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1196587|NM_006218.4(PIK3CA):c.2416+285G>T|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1197400|NM_006218.4(PIK3CA):c.2937-155A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1197539|NM_006218.4(PIK3CA):c.2937-216T>C|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1198826|NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)|single nucleotide variant|Pathogenic/Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1203688|NM_006218.4(PIK3CA):c.2187+73T>C|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1207331|NM_006218.4(PIK3CA):c.353-224C>T|single nucleotide variant|Likely benign|PIK3CA|criteria provided, single submitter|3","1209066|NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile)|single nucleotide variant|Pathogenic/Likely pathogenic|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1209560|NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr)|single nucleotide variant|Uncertain significance|PIK3CA|criteria provided, multiple submitters, no conflicts|3","1209972|NM_006218.4(PIK3CA):c.352+11A>G|single nucleotide variant|Likely benign|PIK3CA|criteria provided, multiple submitters, no conflicts|3"]}]}