ClinVar Miner

List of variants reported as uncertain significance for autosomal agammaglobulinemia by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 553
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_001783.4(CD79A):c.371G>A (p.Arg124His) rs144367487 0.00088
NM_013314.4(BLNK):c.88G>C (p.Gly30Arg) rs143109144 0.00077
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys) rs148249957 0.00056
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile) rs144826995 0.00041
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) rs138007109 0.00039
NM_020070.4(IGLL1):c.478G>A (p.Val160Met) rs138799296 0.00035
NM_001783.4(CD79A):c.224C>T (p.Thr75Met) rs199967393 0.00029
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu) rs191065660 0.00029
NM_001783.4(CD79A):c.269C>T (p.Thr90Met) rs137953079 0.00028
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_001783.4(CD79A):c.341C>T (p.Ser114Leu) rs145895409 0.00024
NM_000626.4(CD79B):c.338G>A (p.Arg113Gln) rs147236129 0.00022
NM_001783.4(CD79A):c.370C>T (p.Arg124Cys) rs144006380 0.00019
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) rs148059720 0.00019
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) rs373082402 0.00015
NM_000626.4(CD79B):c.286A>G (p.Met96Val) rs201757742 0.00014
NM_001783.4(CD79A):c.467C>T (p.Ala156Val) rs202097187 0.00014
NM_000626.4(CD79B):c.497C>T (p.Thr166Met) rs147194821 0.00013
NM_001783.4(CD79A):c.320G>A (p.Arg107Gln) rs143511203 0.00013
NM_001783.4(CD79A):c.179A>G (p.Asn60Ser) rs370313642 0.00011
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr) rs375608442 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_013314.4(BLNK):c.34A>T (p.Ser12Cys) rs201052118 0.00010
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly) rs555319123 0.00010
NM_013314.4(BLNK):c.45G>C (p.Leu15Phe) rs138255946 0.00009
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys) rs199906829 0.00009
NM_000626.4(CD79B):c.179C>T (p.Thr60Met) rs144755516 0.00008
NM_013314.4(BLNK):c.273C>A (p.Asn91Lys) rs200794859 0.00008
NM_020070.4(IGLL1):c.21G>C (p.Gln7His) rs1044209410 0.00008
NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly) rs146980954 0.00008
NM_013314.4(BLNK):c.320C>T (p.Pro107Leu) rs375364894 0.00007
NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn) rs374565313 0.00007
NM_001783.4(CD79A):c.203G>A (p.Arg68His) rs782507150 0.00006
NM_001783.4(CD79A):c.395C>T (p.Pro132Leu) rs201206281 0.00006
NM_001783.4(CD79A):c.466G>A (p.Ala156Thr) rs782150073 0.00006
NM_013314.4(BLNK):c.25G>A (p.Val9Ile) rs200630912 0.00006
NM_013314.4(BLNK):c.596C>G (p.Pro199Arg) rs781980711 0.00006
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) rs146108390 0.00006
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) rs569884568 0.00006
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) rs142959335 0.00006
NM_020070.4(IGLL1):c.606_607del (p.Val203fs) rs765895465 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_001783.4(CD79A):c.263A>G (p.Asn88Ser) rs570673845 0.00005
NM_013314.4(BLNK):c.206A>G (p.Asp69Gly) rs199765600 0.00005
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) rs199529532 0.00005
NM_020070.4(IGLL1):c.221G>A (p.Arg74His) rs368706509 0.00005
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro) rs752183941 0.00005
NM_000626.4(CD79B):c.329A>G (p.Gln110Arg) rs139707827 0.00004
NM_000626.4(CD79B):c.646G>C (p.Gly216Arg) rs777266345 0.00004
NM_001783.4(CD79A):c.164C>T (p.Pro55Leu) rs764758292 0.00004
NM_001783.4(CD79A):c.309A>G (p.Ile103Met) rs113019286 0.00004
NM_001783.4(CD79A):c.313G>A (p.Val105Met) rs782661874 0.00004
NM_001783.4(CD79A):c.583G>A (p.Asp195Asn) rs782658262 0.00004
NM_013314.4(BLNK):c.527C>T (p.Ala176Val) rs782568875 0.00004
NM_013314.4(BLNK):c.932C>T (p.Pro311Leu) rs773027640 0.00004
NM_013314.4(BLNK):c.935-3C>T rs201642415 0.00004
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) rs537809626 0.00004
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) rs765426613 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_000626.4(CD79B):c.422G>A (p.Arg141Gln) rs777737578 0.00003
NM_001783.4(CD79A):c.224C>A (p.Thr75Lys) rs199967393 0.00003
NM_001783.4(CD79A):c.258C>A (p.Asp86Glu) rs587778166 0.00003
NM_001783.4(CD79A):c.469G>A (p.Val157Met) rs1320852597 0.00003
NM_001783.4(CD79A):c.593T>C (p.Met198Thr) rs532288711 0.00003
NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln) rs267602649 0.00003
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp) rs201576692 0.00003
NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu) rs758781859 0.00003
NM_020070.4(IGLL1):c.288T>G (p.His96Gln) rs766149395 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_000626.4(CD79B):c.218A>C (p.Asn73Thr) rs200126941 0.00002
NM_000626.4(CD79B):c.272T>C (p.Leu91Pro) rs779639084 0.00002
NM_000626.4(CD79B):c.389C>T (p.Ser130Leu) rs1389559363 0.00002
NM_000626.4(CD79B):c.47C>T (p.Ala16Val) rs114330958 0.00002
NM_001783.4(CD79A):c.259C>T (p.Pro87Ser) rs1383830014 0.00002
NM_001783.4(CD79A):c.535G>A (p.Gly179Arg) rs782714583 0.00002
NM_001783.4(CD79A):c.653T>A (p.Ile218Lys) rs781969358 0.00002
NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser) rs782110816 0.00002
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu) rs782205113 0.00002
NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn) rs782445849 0.00002
NM_013314.4(BLNK):c.293C>T (p.Pro98Leu) rs201683834 0.00002
NM_013314.4(BLNK):c.52C>T (p.Leu18Phe) rs577163183 0.00002
NM_013314.4(BLNK):c.544G>A (p.Val182Met) rs141021727 0.00002
NM_013314.4(BLNK):c.680G>A (p.Arg227Gln) rs782554120 0.00002
NM_013314.4(BLNK):c.807T>G (p.Ser269Arg) rs374762276 0.00002
NM_013314.4(BLNK):c.829C>T (p.Pro277Ser) rs782411291 0.00002
NM_013314.4(BLNK):c.845G>A (p.Arg282Gln) rs782231780 0.00002
NM_020070.4(IGLL1):c.206+3A>G rs780565684 0.00002
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) rs775909535 0.00002
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile) rs747083240 0.00002
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) rs775788164 0.00002
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) rs746843426 0.00002
NM_020070.4(IGLL1):c.426G>A (p.Pro142=) rs560833188 0.00002
NM_020070.4(IGLL1):c.454G>A (p.Asp152Asn) rs766752741 0.00002
NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser) rs369307571 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_000626.4(CD79B):c.106C>T (p.Arg36Trp) rs201705534 0.00001
NM_000626.4(CD79B):c.131C>T (p.Ser44Leu) rs868652684 0.00001
NM_000626.4(CD79B):c.14C>T (p.Ala5Val) rs748240443 0.00001
NM_000626.4(CD79B):c.379A>G (p.Asn127Asp) rs370893971 0.00001
NM_000626.4(CD79B):c.591G>A (p.Glu197=) rs199859520 0.00001
NM_000626.4(CD79B):c.635C>T (p.Thr212Met) rs149266494 0.00001
NM_001783.4(CD79A):c.184G>A (p.Ala62Thr) rs782467376 0.00001
NM_001783.4(CD79A):c.358G>A (p.Gly120Ser) rs782282654 0.00001
NM_001783.4(CD79A):c.373G>A (p.Val125Met) rs548487112 0.00001
NM_001783.4(CD79A):c.377G>A (p.Arg126His) rs782709381 0.00001
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr) rs1221821073 0.00001
NM_001783.4(CD79A):c.650A>T (p.Asn217Ile) rs1027659418 0.00001
NM_001783.4(CD79A):c.677C>T (p.Pro226Leu) rs1555844167 0.00001
NM_001783.4(CD79A):c.80-3C>T rs781874528 0.00001
NM_001783.4(CD79A):c.8G>C (p.Gly3Ala) rs782206373 0.00001
NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr) rs895691306 0.00001
NM_013314.4(BLNK):c.113+4A>T rs1554907782 0.00001
NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe) rs782636828 0.00001
NM_013314.4(BLNK):c.157G>A (p.Ala53Thr) rs782259412 0.00001
NM_013314.4(BLNK):c.196G>A (p.Asp66Asn) rs1490043216 0.00001
NM_013314.4(BLNK):c.201C>G (p.Asp67Glu) rs782619779 0.00001
NM_013314.4(BLNK):c.211G>A (p.Asp71Asn) rs782528456 0.00001
NM_013314.4(BLNK):c.249G>A (p.Met83Ile) rs782796988 0.00001
NM_013314.4(BLNK):c.254T>C (p.Val85Ala) rs587702260 0.00001
NM_013314.4(BLNK):c.265G>A (p.Glu89Lys) rs1006565682 0.00001
NM_013314.4(BLNK):c.274G>A (p.Ala92Thr) rs782493817 0.00001
NM_013314.4(BLNK):c.328C>G (p.Pro110Ala) rs1554902771 0.00001
NM_013314.4(BLNK):c.335T>C (p.Leu112Pro) rs1434331471 0.00001
NM_013314.4(BLNK):c.434A>G (p.Glu145Gly) rs1554901814 0.00001
NM_013314.4(BLNK):c.49C>A (p.Gln17Lys) rs782515867 0.00001
NM_013314.4(BLNK):c.509G>A (p.Gly170Asp) rs1053275132 0.00001
NM_013314.4(BLNK):c.511C>T (p.Leu171Phe) rs782601154 0.00001
NM_013314.4(BLNK):c.517G>A (p.Glu173Lys) rs782436993 0.00001
NM_013314.4(BLNK):c.659C>T (p.Pro220Leu) rs1591316040 0.00001
NM_013314.4(BLNK):c.685A>G (p.Ser229Gly) rs782305136 0.00001
NM_013314.4(BLNK):c.746G>A (p.Gly249Glu) rs782290327 0.00001
NM_013314.4(BLNK):c.817+6A>G rs782459899 0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu) rs1177361907 0.00001
NM_020070.4(IGLL1):c.149T>C (p.Leu50Pro) rs1211188168 0.00001
NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser) rs759845022 0.00001
NM_020070.4(IGLL1):c.203G>A (p.Gly68Asp) rs745592691 0.00001
NM_020070.4(IGLL1):c.236G>A (p.Gly79Asp) rs1330350014 0.00001
NM_020070.4(IGLL1):c.322+4A>T rs753787644 0.00001
NM_020070.4(IGLL1):c.323-3C>A rs781180907 0.00001
NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn) rs765704270 0.00001
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu) rs575368058 0.00001
NM_020070.4(IGLL1):c.344C>T (p.Ser115Leu) rs539240472 0.00001
NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu) rs1284827222 0.00001
NM_020070.4(IGLL1):c.477C>T (p.Gly159=) rs775680760 0.00001
NM_020070.4(IGLL1):c.545C>T (p.Thr182Met) rs761551186 0.00001
NM_020070.4(IGLL1):c.585G>T (p.Gln195His) rs530821067 0.00001
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr) rs772660059 0.00001
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) rs771552908 0.00001
NM_020070.4(IGLL1):c.617C>T (p.Thr206Met) rs758735353 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_000010.10:g.(?_97366499)_(98031175_?)dup
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.10:g.(?_98031089)_(98031175_?)dup
NC_000019.9:g.(?_42363988)_(42385047_?)dup
NC_000022.10:g.(?_23915433)_(23922397_?)dup
NC_000022.10:g.(?_23915453)_(23915792_?)dup
NC_000022.10:g.(?_23915453)_(24237293_?)del
NC_000022.10:g.(?_23917134)_(23922377_?)del
NC_000022.10:g.(?_23917134)_(23922377_?)dup
NC_000022.10:g.(?_23917134)_(23922397_?)dup
NC_000022.10:g.(?_23922152)_(23922397_?)del
NC_000022.11:g.(?_23574947)_(23580210_?)del
NM_000626.4(CD79B):c.124G>A (p.Ala42Thr)
NM_000626.4(CD79B):c.152G>A (p.Arg51His) rs1401272877
NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)
NM_000626.4(CD79B):c.170G>C (p.Arg57Pro)
NM_000626.4(CD79B):c.205A>G (p.Ser69Gly) rs2144758191
NM_000626.4(CD79B):c.208G>A (p.Ala70Thr) rs912718113
NM_000626.4(CD79B):c.217A>G (p.Asn73Asp)
NM_000626.4(CD79B):c.245T>G (p.Met82Arg)
NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)
NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)
NM_000626.4(CD79B):c.304G>A (p.Glu102Lys) rs1908036921
NM_000626.4(CD79B):c.323C>T (p.Thr108Ile) rs763307022
NM_000626.4(CD79B):c.341T>G (p.Phe114Cys) rs1908032776
NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)
NM_000626.4(CD79B):c.364_366del (p.Cys122del)
NM_000626.4(CD79B):c.429G>A (p.Met143Ile)
NM_000626.4(CD79B):c.431-8_431-7delinsTG
NM_000626.4(CD79B):c.467C>T (p.Thr156Met) rs2144756917
NM_000626.4(CD79B):c.523G>A (p.Val175Met)
NM_000626.4(CD79B):c.542T>A (p.Leu181Gln) rs1908002118
NM_000626.4(CD79B):c.547A>G (p.Lys183Glu) rs1908001684
NM_000626.4(CD79B):c.552T>A (p.Asp184Glu) rs1598399769
NM_000626.4(CD79B):c.557G>A (p.Ser186Asn) rs1290989439
NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly) rs2144755949
NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)
NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)
NM_000626.4(CD79B):c.591+4A>T rs2144755829
NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)
NM_000626.4(CD79B):c.664G>A (p.Val222Ile) rs144588938
NM_000626.4(CD79B):c.67+3A>G rs1335363614
NM_000626.4(CD79B):c.679G>A (p.Gly227Ser) rs2144755333
NM_000626.4(CD79B):c.92C>G (p.Ser31Trp) rs750544228
NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del) rs780720849
NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)
NM_001783.4(CD79A):c.128T>A (p.Met43Lys) rs782421590
NM_001783.4(CD79A):c.137T>C (p.Leu46Pro) rs2074204859
NM_001783.4(CD79A):c.182A>T (p.Asn61Ile) rs2074205317
NM_001783.4(CD79A):c.188A>G (p.Asn63Ser) rs151224661
NM_001783.4(CD79A):c.188A>T (p.Asn63Ile)
NM_001783.4(CD79A):c.190G>A (p.Val64Ile)
NM_001783.4(CD79A):c.202C>T (p.Arg68Cys) rs782657641
NM_001783.4(CD79A):c.242T>C (p.Leu81Ser)
NM_001783.4(CD79A):c.253G>A (p.Glu85Lys)
NM_001783.4(CD79A):c.310T>C (p.Tyr104His) rs2123304241
NM_001783.4(CD79A):c.335A>G (p.Asn112Ser)
NM_001783.4(CD79A):c.338A>G (p.Glu113Gly)
NM_001783.4(CD79A):c.379+3G>A
NM_001783.4(CD79A):c.394C>A (p.Pro132Thr)
NM_001783.4(CD79A):c.416G>A (p.Gly139Asp)
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) rs148797987
NM_001783.4(CD79A):c.428G>A (p.Arg143Gln)
NM_001783.4(CD79A):c.442G>A (p.Glu148Lys) rs2074209426
NM_001783.4(CD79A):c.463_464delinsCT (p.Cys155Leu)
NM_001783.4(CD79A):c.466_467delinsTT (p.Ala156Leu)
NM_001783.4(CD79A):c.493T>C (p.Phe165Leu)
NM_001783.4(CD79A):c.498+6C>A
NM_001783.4(CD79A):c.498G>C (p.Arg166Ser) rs2123305225
NM_001783.4(CD79A):c.502C>G (p.Arg168Gly) rs1555844064
NM_001783.4(CD79A):c.503G>A (p.Arg168Gln)
NM_001783.4(CD79A):c.514G>A (p.Glu172Lys)
NM_001783.4(CD79A):c.523G>A (p.Gly175Arg) rs1016097078
NM_001783.4(CD79A):c.610C>G (p.Arg204Gly) rs782417731
NM_001783.4(CD79A):c.611G>A (p.Arg204Gln) rs782624281
NM_001783.4(CD79A):c.643A>G (p.Ser215Gly) rs550589218
NM_001783.4(CD79A):c.64T>A (p.Ser22Thr) rs1600629998
NM_001783.4(CD79A):c.664C>T (p.Gln222Ter)
NM_001783.4(CD79A):c.677C>A (p.Pro226Gln) rs1555844167
NM_001783.4(CD79A):c.79+6T>C
NM_001783.4(CD79A):c.80G>T (p.Gly27Val) rs2074204427
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly) rs2133946404
NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp) rs782566012
NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln) rs782570122
NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)
NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala) rs1466156518
NM_013314.4(BLNK):c.1252-3T>C
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe) rs2083340048
NM_013314.4(BLNK):c.1291C>A (p.His431Asn)
NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)
NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly) rs2133908110
NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)
NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)
NM_013314.4(BLNK):c.1351T>C (p.Tyr451His) rs782547336
NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)
NM_013314.4(BLNK):c.171_172inv (p.Ala58Thr)
NM_013314.4(BLNK):c.184G>C (p.Glu62Gln)
NM_013314.4(BLNK):c.191G>C (p.Trp64Ser) rs1842471945
NM_013314.4(BLNK):c.198T>A (p.Asp66Glu) rs587721918
NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)
NM_013314.4(BLNK):c.208A>G (p.Ser70Gly) rs2134032306
NM_013314.4(BLNK):c.210C>G (p.Ser70Arg) rs138625467
NM_013314.4(BLNK):c.230A>G (p.Glu77Gly) rs2134032203
NM_013314.4(BLNK):c.248T>C (p.Met83Thr)
NM_013314.4(BLNK):c.253G>A (p.Val85Met)
NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)
NM_013314.4(BLNK):c.284G>A (p.Ser95Asn) rs1842318615
NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)
NM_013314.4(BLNK):c.302T>C (p.Val101Ala) rs2134031807
NM_013314.4(BLNK):c.351C>T (p.Gly117=)
NM_013314.4(BLNK):c.368G>T (p.Arg123Leu) rs781854815
NM_013314.4(BLNK):c.377A>G (p.Gln126Arg) rs1313837045
NM_013314.4(BLNK):c.395T>G (p.Phe132Cys) rs2134020915
NM_013314.4(BLNK):c.419C>T (p.Pro140Leu) rs2134020896
NM_013314.4(BLNK):c.460C>G (p.Pro154Ala) rs2084259658
NM_013314.4(BLNK):c.463G>T (p.Ala155Ser) rs201861123
NM_013314.4(BLNK):c.479A>G (p.Gln160Arg) rs781989662
NM_013314.4(BLNK):c.484C>T (p.Pro162Ser)
NM_013314.4(BLNK):c.521A>T (p.Asp174Val)
NM_013314.4(BLNK):c.571C>A (p.His191Asn) rs2134002149
NM_013314.4(BLNK):c.596C>T (p.Pro199Leu) rs781980711
NM_013314.4(BLNK):c.5A>T (p.Asp2Val)
NM_013314.4(BLNK):c.607+5G>C rs782348426
NM_013314.4(BLNK):c.611C>A (p.Pro204His) rs2084041054
NM_013314.4(BLNK):c.616G>A (p.Val206Met) rs1297812434
NM_013314.4(BLNK):c.616_618del (p.Val206del)
NM_013314.4(BLNK):c.646A>G (p.Thr216Ala) rs1307642715
NM_013314.4(BLNK):c.647C>T (p.Thr216Met)
NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)
NM_013314.4(BLNK):c.677-3C>T rs2133983445
NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)
NM_013314.4(BLNK):c.71A>G (p.Asp24Gly) rs1554907802
NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)
NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)
NM_013314.4(BLNK):c.758C>T (p.Thr253Met)
NM_013314.4(BLNK):c.775-3T>C
NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr) rs782250398
NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)
NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)
NM_013314.4(BLNK):c.896C>T (p.Ala299Val)
NM_013314.4(BLNK):c.903A>G (p.Lys301=)
NM_013314.4(BLNK):c.926C>A (p.Pro309His) rs1177361907
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser) rs2083618670
NM_020070.4(IGLL1):c.119G>A (p.Arg40His)
NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)
NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg) rs2123706017
NM_020070.4(IGLL1):c.152_158dup (p.Ala54fs) rs1925262225
NM_020070.4(IGLL1):c.157G>T (p.Gly53Ter) rs1256867431
NM_020070.4(IGLL1):c.161C>A (p.Ala54Asp)
NM_020070.4(IGLL1):c.161_169dup (p.Ala54_Gly56dup) rs2123705600
NM_020070.4(IGLL1):c.163_164dup (p.Gly56fs)
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) rs146108390
NM_020070.4(IGLL1):c.179G>A (p.Arg60Gln)
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) rs1460659708
NM_020070.4(IGLL1):c.196C>G (p.Arg66Gly)
NM_020070.4(IGLL1):c.196C>T (p.Arg66Trp)
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) rs569884568
NM_020070.4(IGLL1):c.206G>C (p.Arg69Thr)
NM_020070.4(IGLL1):c.207-3C>G
NM_020070.4(IGLL1):c.207-4G>T
NM_020070.4(IGLL1):c.220C>T (p.Arg74Cys)
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro) rs2123698257
NM_020070.4(IGLL1):c.238C>G (p.Pro80Ala) rs766027584
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) rs200178386
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.263A>C (p.Gln88Pro)
NM_020070.4(IGLL1):c.266C>T (p.Ser89Phe)
NM_020070.4(IGLL1):c.26dup (p.Leu10fs) rs1569072706
NM_020070.4(IGLL1):c.272A>G (p.His91Arg)
NM_020070.4(IGLL1):c.281_284dup (p.His96fs)
NM_020070.4(IGLL1):c.284C>T (p.Thr95Met)
NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)
NM_020070.4(IGLL1):c.321A>G (p.Leu107=)
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.322+4A>G rs753787644
NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn) rs1025960361
NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp) rs2123696242
NM_020070.4(IGLL1):c.356T>A (p.Phe119Tyr)
NM_020070.4(IGLL1):c.359C>A (p.Pro120Gln)
NM_020070.4(IGLL1):c.35C>A (p.Ala12Asp)
NM_020070.4(IGLL1):c.379del (p.Gln127fs) rs1924897060
NM_020070.4(IGLL1):c.385A>C (p.Asn129His) rs1304505064
NM_020070.4(IGLL1):c.392C>T (p.Ala131Val)
NM_020070.4(IGLL1):c.409A>G (p.Met137Val)
NM_020070.4(IGLL1):c.415_418delinsAAC (p.Asp139fs)
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) rs1602287119
NM_020070.4(IGLL1):c.465del (p.Ile156fs)
NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)
NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)
NM_020070.4(IGLL1):c.497C>G (p.Ser166Cys)
NM_020070.4(IGLL1):c.507CAA[2] (p.Asn171del)
NM_020070.4(IGLL1):c.513C>G (p.Asn171Lys)
NM_020070.4(IGLL1):c.515A>G (p.Lys172Arg)
NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser) rs199718215
NM_020070.4(IGLL1):c.52C>T (p.Pro18Ser)
NM_020070.4(IGLL1):c.536T>G (p.Leu179Arg)
NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu) rs374187217
NM_020070.4(IGLL1):c.542T>C (p.Leu181Pro)
NM_020070.4(IGLL1):c.551dup (p.Gln185fs)
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
NM_020070.4(IGLL1):c.55A>G (p.Asn19Asp)
NM_020070.4(IGLL1):c.560G>A (p.Arg187Lys)
NM_020070.4(IGLL1):c.584A>G (p.Gln195Arg)
NM_020070.4(IGLL1):c.590T>G (p.Met197Arg) rs772660059
NM_020070.4(IGLL1):c.594C>A (p.His198Gln) rs1064418
NM_020070.4(IGLL1):c.595G>A (p.Glu199Lys)
NM_020070.4(IGLL1):c.5G>A (p.Arg2Lys)
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) rs1569069031
NM_020070.4(IGLL1):c.608T>C (p.Val203Ala) rs941686597
NM_020070.4(IGLL1):c.619G>A (p.Val207Met) rs779159751
NM_020070.4(IGLL1):c.68G>A (p.Arg23His)
NM_020070.4(IGLL1):c.74C>A (p.Pro25His)
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.