ClinVar Miner

List of variants reported as uncertain significance for activated PI3K-delta syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 481
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130 0.00021
NM_005026.5(PIK3CD):c.142-3C>T rs201635199 0.00019
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) rs148059720 0.00019
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys) rs1035624064 0.00018
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr) rs557471275 0.00017
NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln) rs370509251 0.00016
NM_005026.5(PIK3CD):c.780+3G>A rs370943912 0.00016
NM_005026.5(PIK3CD):c.58G>A (p.Val20Ile) rs143116020 0.00014
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223 0.00012
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) rs142050444 0.00012
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys) rs765729544 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu) rs200369205 0.00009
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu) rs369430343 0.00008
NM_005026.5(PIK3CD):c.1501G>A (p.Val501Met) rs999028906 0.00007
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met) rs571644641 0.00006
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625 0.00006
NM_005026.5(PIK3CD):c.1402G>A (p.Ala468Thr) rs761356083 0.00006
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_005026.5(PIK3CD):c.455C>T (p.Ala152Val) rs755788138 0.00006
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile) rs143572224 0.00006
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu) rs377030014 0.00006
NM_005026.5(PIK3CD):c.17A>G (p.Asp6Gly) rs749032083 0.00005
NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn) rs547875116 0.00005
NM_005026.5(PIK3CD):c.2461C>T (p.Arg821Cys) rs140820694 0.00005
NM_005026.5(PIK3CD):c.1070C>T (p.Thr357Met) rs775700162 0.00004
NM_005026.5(PIK3CD):c.1339+3C>T rs763675477 0.00004
NM_005026.5(PIK3CD):c.1534C>T (p.Arg512Trp) rs765797019 0.00004
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln) rs138090835 0.00004
NM_005026.5(PIK3CD):c.1892A>G (p.Lys631Arg) rs769421641 0.00004
NM_005026.5(PIK3CD):c.1969G>A (p.Val657Met) rs756589761 0.00004
NM_005026.5(PIK3CD):c.2347+6G>A rs368607726 0.00004
NM_005026.5(PIK3CD):c.3015G>T (p.Gly1005=) rs776778083 0.00004
NM_005026.5(PIK3CD):c.634G>A (p.Val212Met) rs781191290 0.00004
NM_005026.5(PIK3CD):c.899G>A (p.Arg300His) rs780386111 0.00004
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr) rs367923318 0.00004
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) rs774531250 0.00004
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) rs758929943 0.00004
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) rs547196342 0.00004
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile) rs747881833 0.00004
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr) rs771365361 0.00004
NM_005026.5(PIK3CD):c.1021-3C>T rs933446799 0.00003
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=) rs758253493 0.00003
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg) rs1198694875 0.00003
NM_005026.5(PIK3CD):c.1965G>A (p.Met655Ile) rs1211872659 0.00003
NM_005026.5(PIK3CD):c.1973C>T (p.Pro658Leu) rs780565270 0.00003
NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu) rs765031777 0.00003
NM_005026.5(PIK3CD):c.373C>A (p.Leu125Ile) rs1410662789 0.00003
NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu) rs148638384 0.00003
NM_005026.5(PIK3CD):c.538C>A (p.Pro180Thr) rs767838052 0.00003
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val) rs767837787 0.00003
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) rs112487959 0.00003
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) rs763278796 0.00003
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210 0.00003
NM_005026.5(PIK3CD):c.1496A>C (p.Glu499Ala) rs922490667 0.00002
NM_005026.5(PIK3CD):c.1642C>T (p.Arg548Trp) rs780269932 0.00002
NM_005026.5(PIK3CD):c.2055+4A>G rs761254166 0.00002
NM_005026.5(PIK3CD):c.2168C>T (p.Ala723Val) rs765640030 0.00002
NM_005026.5(PIK3CD):c.2173C>G (p.Leu725Val) rs143471703 0.00002
NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302 0.00002
NM_005026.5(PIK3CD):c.2489G>A (p.Arg830His) rs756497515 0.00002
NM_005026.5(PIK3CD):c.557C>T (p.Pro186Leu) rs779715026 0.00002
NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala) rs770275584 0.00002
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00002
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser) rs751595991 0.00002
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His) rs755043940 0.00002
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) rs762818071 0.00002
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) rs200820769 0.00002
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly) rs1481771249 0.00002
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) rs771919405 0.00002
NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg) rs774630166 0.00001
NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr) rs755144547 0.00001
NM_005026.5(PIK3CD):c.141+3A>G rs1465930805 0.00001
NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu) rs766145180 0.00001
NM_005026.5(PIK3CD):c.1483G>A (p.Gly495Arg) rs1342430054 0.00001
NM_005026.5(PIK3CD):c.1487G>A (p.Arg496Gln) rs761958757 0.00001
NM_005026.5(PIK3CD):c.1495G>A (p.Glu499Lys) rs767714303 0.00001
NM_005026.5(PIK3CD):c.155G>A (p.Arg52His) rs772851443 0.00001
NM_005026.5(PIK3CD):c.1587C>A (p.Asp529Glu) rs1332713912 0.00001
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe) rs1302155596 0.00001
NM_005026.5(PIK3CD):c.1765G>T (p.Asp589Tyr) rs371700599 0.00001
NM_005026.5(PIK3CD):c.1774G>A (p.Val592Ile) rs893249484 0.00001
NM_005026.5(PIK3CD):c.1811C>T (p.Thr604Met) rs754072203 0.00001
NM_005026.5(PIK3CD):c.1864G>A (p.Glu622Lys) rs993552815 0.00001
NM_005026.5(PIK3CD):c.1871A>C (p.Tyr624Ser) rs771265754 0.00001
NM_005026.5(PIK3CD):c.1882G>A (p.Glu628Lys) rs1287221059 0.00001
NM_005026.5(PIK3CD):c.1922G>A (p.Arg641His) rs761809287 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_005026.5(PIK3CD):c.2055+5G>A rs1648720883 0.00001
NM_005026.5(PIK3CD):c.2074C>G (p.Leu692Val) rs1481047336 0.00001
NM_005026.5(PIK3CD):c.2194C>G (p.Gln732Glu) rs376114835 0.00001
NM_005026.5(PIK3CD):c.2296G>A (p.Glu766Lys) rs745896452 0.00001
NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser) rs200226248 0.00001
NM_005026.5(PIK3CD):c.2312G>T (p.Gly771Val) rs749787380 0.00001
NM_005026.5(PIK3CD):c.2364G>C (p.Met788Ile) rs1247300105 0.00001
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys) rs554743340 0.00001
NM_005026.5(PIK3CD):c.2591C>T (p.Pro864Leu) rs148984508 0.00001
NM_005026.5(PIK3CD):c.259C>T (p.Arg87Trp) rs768486795 0.00001
NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys) rs1557659540 0.00001
NM_005026.5(PIK3CD):c.2830C>G (p.Gln944Glu) rs757964104 0.00001
NM_005026.5(PIK3CD):c.2869C>T (p.Arg957Trp) rs758647199 0.00001
NM_005026.5(PIK3CD):c.2872G>T (p.Gly958Cys) rs755117692 0.00001
NM_005026.5(PIK3CD):c.2905C>T (p.Arg969Cys) rs551657853 0.00001
NM_005026.5(PIK3CD):c.304G>A (p.Val102Met) rs1647296006 0.00001
NM_005026.5(PIK3CD):c.328A>C (p.Lys110Gln) rs1449263530 0.00001
NM_005026.5(PIK3CD):c.397G>A (p.Asp133Asn) rs754053878 0.00001
NM_005026.5(PIK3CD):c.401C>T (p.Pro134Leu) rs1351397800 0.00001
NM_005026.5(PIK3CD):c.563G>A (p.Arg188Gln) rs748146002 0.00001
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile) rs569586715 0.00001
NM_005026.5(PIK3CD):c.658G>T (p.Ala220Ser) rs1287665655 0.00001
NM_005026.5(PIK3CD):c.685C>T (p.Arg229Trp) rs761298080 0.00001
NM_005026.5(PIK3CD):c.707C>T (p.Pro236Leu) rs373049250 0.00001
NM_005026.5(PIK3CD):c.859G>C (p.Asp287His) rs1446283598 0.00001
NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg) rs969868296 0.00001
NM_005026.5(PIK3CD):c.8C>T (p.Pro3Leu) rs780051553 0.00001
NM_005026.5(PIK3CD):c.923C>T (p.Ala308Val) rs749687214 0.00001
NM_005026.5(PIK3CD):c.976G>A (p.Glu326Lys) rs148703447 0.00001
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701 0.00001
NM_181523.3(PIK3R1):c.1118+5G>A rs773388284 0.00001
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln) rs766524768 0.00001
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln) rs748784250 0.00001
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=) rs935776281 0.00001
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val) rs1747710716 0.00001
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) rs374119964 0.00001
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile) rs755953968 0.00001
NM_181523.3(PIK3R1):c.334+4A>G rs1263122579 0.00001
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) rs752552706 0.00001
NM_181523.3(PIK3R1):c.427+4A>C rs1380740486 0.00001
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) rs778443805 0.00001
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) rs765008592 0.00001
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln) rs1477562598 0.00001
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser) rs1418066079 0.00001
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val) rs773185995 0.00001
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648 0.00001
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu) rs1486145236 0.00001
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) rs147303522 0.00001
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) rs1184502086 0.00001
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr) rs759526958 0.00001
NC_000001.10:g.(?_9770494)_(10690064_?)del
NC_000001.10:g.(?_9770494)_(9787124_?)del
NC_000001.10:g.(?_9770514)_(11264780_?)del
NC_000001.11:g.(?_9710436)_(9727066_?)dup
NM_005026.5(PIK3CD):c.1004C>G (p.Ala335Gly)
NM_005026.5(PIK3CD):c.1006G>A (p.Asp336Asn) rs760642664
NM_005026.5(PIK3CD):c.1009G>C (p.Glu337Gln)
NM_005026.5(PIK3CD):c.1013G>A (p.Arg338Gln)
NM_005026.5(PIK3CD):c.1021-14G>A
NM_005026.5(PIK3CD):c.1021-7T>A
NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu) rs2100907022
NM_005026.5(PIK3CD):c.1047C>G (p.His349Gln)
NM_005026.5(PIK3CD):c.1048G>A (p.Gly350Ser)
NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)
NM_005026.5(PIK3CD):c.1054G>A (p.Glu352Lys)
NM_005026.5(PIK3CD):c.1057A>G (p.Met353Val) rs1647973216
NM_005026.5(PIK3CD):c.1072G>C (p.Val358Leu) rs763569477
NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val) rs1647979472
NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)
NM_005026.5(PIK3CD):c.1114A>G (p.Lys372Glu)
NM_005026.5(PIK3CD):c.112C>A (p.Arg38Ser)
NM_005026.5(PIK3CD):c.113G>T (p.Arg38Leu)
NM_005026.5(PIK3CD):c.1153C>T (p.Pro385Ser) rs2100908773
NM_005026.5(PIK3CD):c.1157G>A (p.Arg386His) rs373591202
NM_005026.5(PIK3CD):c.1165C>T (p.Arg389Cys)
NM_005026.5(PIK3CD):c.1214G>A (p.Arg405His) rs1219279866
NM_005026.5(PIK3CD):c.121A>C (p.Asn41His) rs1647005150
NM_005026.5(PIK3CD):c.1220C>T (p.Thr407Ile)
NM_005026.5(PIK3CD):c.1241C>T (p.Ala414Val)
NM_005026.5(PIK3CD):c.1242+13G>T
NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)
NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)
NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)
NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)
NM_005026.5(PIK3CD):c.1306G>T (p.Glu436Ter)
NM_005026.5(PIK3CD):c.1310G>A (p.Arg437His)
NM_005026.5(PIK3CD):c.1331C>T (p.Ser444Phe) rs759238357
NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile) rs762320758
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_005026.5(PIK3CD):c.1339+6C>T
NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)
NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp) rs147088845
NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)
NM_005026.5(PIK3CD):c.1363C>T (p.Pro455Ser)
NM_005026.5(PIK3CD):c.1367C>T (p.Thr456Met)
NM_005026.5(PIK3CD):c.1378C>T (p.Arg460Cys)
NM_005026.5(PIK3CD):c.1383T>G (p.Ser461Arg)
NM_005026.5(PIK3CD):c.1432G>A (p.Val478Met) rs1648292751
NM_005026.5(PIK3CD):c.1442A>C (p.His481Pro)
NM_005026.5(PIK3CD):c.1471-8T>G
NM_005026.5(PIK3CD):c.1475T>C (p.Leu492Ser)
NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala) rs966409603
NM_005026.5(PIK3CD):c.1478A>G (p.Glu493Gly)
NM_005026.5(PIK3CD):c.1484G>A (p.Gly495Glu)
NM_005026.5(PIK3CD):c.1486_1487delinsTT (p.Arg496Leu)
NM_005026.5(PIK3CD):c.1494C>T (p.Ser498=)
NM_005026.5(PIK3CD):c.1504C>T (p.His502Tyr)
NM_005026.5(PIK3CD):c.1521+5G>A
NM_005026.5(PIK3CD):c.1549C>T (p.Arg517Trp)
NM_005026.5(PIK3CD):c.1550G>A (p.Arg517Gln)
NM_005026.5(PIK3CD):c.1552C>T (p.Arg518Trp)
NM_005026.5(PIK3CD):c.1577A>G (p.His526Arg)
NM_005026.5(PIK3CD):c.1618G>C (p.Glu540Gln)
NM_005026.5(PIK3CD):c.1628C>T (p.Pro543Leu) rs2100955722
NM_005026.5(PIK3CD):c.1634C>T (p.Ala545Val) rs1220175470
NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)
NM_005026.5(PIK3CD):c.1643G>A (p.Arg548Gln) rs1297091785
NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)
NM_005026.5(PIK3CD):c.1673A>G (p.His558Arg) rs1648521215
NM_005026.5(PIK3CD):c.1687C>T (p.Gln563Ter)
NM_005026.5(PIK3CD):c.1690-3C>T
NM_005026.5(PIK3CD):c.1699C>G (p.Leu567Val)
NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs) rs2100840815
NM_005026.5(PIK3CD):c.1727T>C (p.Val576Ala)
NM_005026.5(PIK3CD):c.1738C>G (p.Leu580Val)
NM_005026.5(PIK3CD):c.1775T>C (p.Val592Ala) rs776226369
NM_005026.5(PIK3CD):c.1789A>G (p.Ile597Val) rs2100963194
NM_005026.5(PIK3CD):c.1796C>T (p.Ser599Leu)
NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala) rs749032083
NM_005026.5(PIK3CD):c.1801C>T (p.Arg601Trp) rs763994711
NM_005026.5(PIK3CD):c.1816G>A (p.Asp606Asn)
NM_005026.5(PIK3CD):c.1846G>A (p.Val616Met) rs1648646851
NM_005026.5(PIK3CD):c.1915G>A (p.Ala639Thr)
NM_005026.5(PIK3CD):c.1921C>T (p.Arg641Cys)
NM_005026.5(PIK3CD):c.1954C>T (p.Arg652Cys)
NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)
NM_005026.5(PIK3CD):c.1993G>A (p.Gly665Ser)
NM_005026.5(PIK3CD):c.2041G>A (p.Val681Met)
NM_005026.5(PIK3CD):c.2059G>A (p.Glu687Lys)
NM_005026.5(PIK3CD):c.2095G>A (p.Val699Ile) rs751020974
NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)
NM_005026.5(PIK3CD):c.2119C>A (p.Pro707Thr)
NM_005026.5(PIK3CD):c.2164G>T (p.Glu722Ter)
NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser) rs1043386158
NM_005026.5(PIK3CD):c.2295C>G (p.Asn765Lys)
NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)
NM_005026.5(PIK3CD):c.2348-10G>A
NM_005026.5(PIK3CD):c.2348-11_2356del rs1648840773
NM_005026.5(PIK3CD):c.2353C>T (p.Arg785Trp)
NM_005026.5(PIK3CD):c.2362A>G (p.Met788Val) rs1648845956
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs) rs1553168726
NM_005026.5(PIK3CD):c.2395G>A (p.Val799Ile)
NM_005026.5(PIK3CD):c.2419G>A (p.Asp807Asn) rs2100982447
NM_005026.5(PIK3CD):c.2462G>A (p.Arg821His)
NM_005026.5(PIK3CD):c.2481G>T (p.Val827=)
NM_005026.5(PIK3CD):c.2503G>A (p.Ala835Thr) rs1648966090
NM_005026.5(PIK3CD):c.2545G>A (p.Ala849Thr)
NM_005026.5(PIK3CD):c.2558A>T (p.Asp853Val)
NM_005026.5(PIK3CD):c.2597A>T (p.Glu866Val)
NM_005026.5(PIK3CD):c.2599G>T (p.Ala867Ser) rs1371422939
NM_005026.5(PIK3CD):c.2609G>A (p.Arg870Gln)
NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.5(PIK3CD):c.2704C>T (p.Arg902Ter)
NM_005026.5(PIK3CD):c.2705G>A (p.Arg902Gln) rs202142608
NM_005026.5(PIK3CD):c.2718+5dup
NM_005026.5(PIK3CD):c.2719-15CTCCC[4]
NM_005026.5(PIK3CD):c.2761A>G (p.Thr921Ala)
NM_005026.5(PIK3CD):c.2785C>T (p.Arg929Cys) rs2101002964
NM_005026.5(PIK3CD):c.2863C>T (p.Arg955Trp)
NM_005026.5(PIK3CD):c.2864+3G>A
NM_005026.5(PIK3CD):c.2865-3C>T
NM_005026.5(PIK3CD):c.2870G>A (p.Arg957Gln)
NM_005026.5(PIK3CD):c.2906G>A (p.Arg969His)
NM_005026.5(PIK3CD):c.2944C>T (p.Arg982Trp)
NM_005026.5(PIK3CD):c.2945G>A (p.Arg982Gln)
NM_005026.5(PIK3CD):c.2948C>T (p.Ala983Val) rs975282953
NM_005026.5(PIK3CD):c.2997+4T>C rs1649271518
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=) rs1463951620
NM_005026.5(PIK3CD):c.2998-19C>A
NM_005026.5(PIK3CD):c.3001T>A (p.Ser1001Thr) rs2101042359
NM_005026.5(PIK3CD):c.3025G>A (p.Glu1009Lys)
NM_005026.5(PIK3CD):c.3046C>T (p.Arg1016Ter) rs1649753771
NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)
NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)
NM_005026.5(PIK3CD):c.30A>C (p.Glu10Asp)
NM_005026.5(PIK3CD):c.3109_3111del (p.Asn1037del)
NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)
NM_005026.5(PIK3CD):c.3112G>A (p.Val1038Met)
NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys) rs1205317546
NM_005026.5(PIK3CD):c.337A>G (p.Ile113Val) rs756298807
NM_005026.5(PIK3CD):c.342C>G (p.Asn114Lys)
NM_005026.5(PIK3CD):c.364G>A (p.Gly122Ser)
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr) rs1647002482
NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)
NM_005026.5(PIK3CD):c.461G>A (p.Arg154Gln)
NM_005026.5(PIK3CD):c.494_512del (p.Tyr165fs)
NM_005026.5(PIK3CD):c.518C>A (p.Pro173His)
NM_005026.5(PIK3CD):c.524C>T (p.Ala175Val)
NM_005026.5(PIK3CD):c.538C>T (p.Pro180Ser)
NM_005026.5(PIK3CD):c.550C>T (p.Arg184Trp) rs1250682190
NM_005026.5(PIK3CD):c.551G>A (p.Arg184Gln)
NM_005026.5(PIK3CD):c.592G>A (p.Gly198Ser) rs1647371834
NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu) rs1257745660
NM_005026.5(PIK3CD):c.601-3C>T rs2100855814
NM_005026.5(PIK3CD):c.625A>G (p.Thr209Ala)
NM_005026.5(PIK3CD):c.641T>C (p.Leu214Pro) rs1647468905
NM_005026.5(PIK3CD):c.644C>T (p.Ala215Val)
NM_005026.5(PIK3CD):c.664C>T (p.Arg222Trp) rs772233114
NM_005026.5(PIK3CD):c.665G>A (p.Arg222Gln) rs1216060233
NM_005026.5(PIK3CD):c.695T>C (p.Leu232Pro)
NM_005026.5(PIK3CD):c.718A>T (p.Thr240Ser) rs1647485551
NM_005026.5(PIK3CD):c.719C>T (p.Thr240Met)
NM_005026.5(PIK3CD):c.733G>A (p.Gly245Ser) rs201035266
NM_005026.5(PIK3CD):c.761A>T (p.Tyr254Phe)
NM_005026.5(PIK3CD):c.767dup (p.Cys257fs)
NM_005026.5(PIK3CD):c.780+6G>T
NM_005026.5(PIK3CD):c.784A>G (p.Ile262Val)
NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr) rs1570363781
NM_005026.5(PIK3CD):c.800A>G (p.His267Arg)
NM_005026.5(PIK3CD):c.809T>G (p.Leu270Trp) rs1647584874
NM_005026.5(PIK3CD):c.842C>T (p.Ser281Phe)
NM_005026.5(PIK3CD):c.850G>A (p.Ala284Thr)
NM_005026.5(PIK3CD):c.856C>A (p.Arg286=)
NM_005026.5(PIK3CD):c.856C>T (p.Arg286Trp)
NM_005026.5(PIK3CD):c.875C>T (p.Pro292Leu)
NM_005026.5(PIK3CD):c.878C>T (p.Ala293Val) rs765061150
NM_005026.5(PIK3CD):c.892A>G (p.Lys298Glu)
NM_005026.5(PIK3CD):c.905A>G (p.Lys302Arg)
NM_005026.5(PIK3CD):c.916A>G (p.Ile306Val) rs2100868986
NM_005026.5(PIK3CD):c.923C>A (p.Ala308Glu)
NM_005026.5(PIK3CD):c.931-9G>A
NM_005026.5(PIK3CD):c.938C>T (p.Ser313Phe) rs746649091
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu) rs770390674
NM_005026.5(PIK3CD):c.953C>T (p.Ser318Phe)
NM_005026.5(PIK3CD):c.965C>T (p.Pro322Leu) rs758304879
NM_005026.5(PIK3CD):c.970C>T (p.Arg324Cys) rs762697236
NM_005026.5(PIK3CD):c.971G>T (p.Arg324Leu) rs773473376
NM_005026.5(PIK3CD):c.973A>G (p.Ile325Val)
NM_005026.5(PIK3CD):c.982A>G (p.Ile328Val)
NM_005026.5(PIK3CD):c.987G>T (p.Gln329His)
NM_181523.3(PIK3R1):c.*1del (p.Ter725=) rs1747800027
NM_181523.3(PIK3R1):c.1019+5_1019+7del
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala) rs1017086766
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro) rs2111964134
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=) rs1747501345
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile) rs1001616209
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe) rs1001616209
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr) rs188617536
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
NM_181523.3(PIK3R1):c.1299+4A>G
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp) rs747844946
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) rs1747587410
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) rs765178503
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His) rs2112270035
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg) rs1131691859
NM_181523.3(PIK3R1):c.1568+4G>C
NM_181523.3(PIK3R1):c.1569-3C>T rs1747637758
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) rs2112275807
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) rs1580173662
NM_181523.3(PIK3R1):c.1745+5G>A rs1747649223
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=) rs1349813143
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
NM_181523.3(PIK3R1):c.1814+6T>G
NM_181523.3(PIK3R1):c.1815-12C>T
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) rs1747703922
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile) rs1744294827
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) rs1376376979
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) rs1747708267
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
NM_181523.3(PIK3R1):c.1985+3A>G
NM_181523.3(PIK3R1):c.1985+4T>G
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met) rs1747782919
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg) rs1747784886
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) rs1744296159
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) rs1747785071
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val) rs764638492
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr) rs1747786981
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His) rs2112291384
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu) rs910474484
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn) rs1747798069
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter) rs764019194
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) rs772928652
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) rs1744300386
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln) rs765266397
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) rs575423347
NM_181523.3(PIK3R1):c.334+4_334+9del rs1219959578
NM_181523.3(PIK3R1):c.335-15T>G
NM_181523.3(PIK3R1):c.335-3C>T
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) rs763574306
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe) rs763574306
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe) rs2112164735
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met) rs539374043
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu) rs539374043
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
NM_181523.3(PIK3R1):c.427+6C>G
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) rs755300178
NM_181523.3(PIK3R1):c.502+6T>C rs2112167267
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro) rs1440086188
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) rs1264292969
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe) rs1237204595
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr) rs781181630
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) rs540361957
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) rs1746792752
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) rs201598843
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg) rs746719882
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys) rs141981005
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) rs1746794995
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn) rs2112195478
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn) rs2112195905
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe) rs2112196013
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser) rs2112196978
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
NM_181523.3(PIK3R1):c.916+18T>G rs2112197494
NM_181523.3(PIK3R1):c.917-14_917-9del rs2112244267
NM_181523.3(PIK3R1):c.917-5T>A
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser) rs1747439245
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) rs1747439770
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser) rs1452312514

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.