PIK3C2B — 254 ClinVar variants
All ClinVar germline PIK3C2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →
1 Conflicting · 23 Benign · 2 Benign/Likely benign · 41 Likely benign · 187 Uncertain significance
Full PIK3C2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 179
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIK3C2B p.Ala246Val Uncertain significance Single submitter
- PIK3C2B p.Ala299Glu Uncertain significance Single submitter
- PIK3C2B p.Ala309Thr Uncertain significance Single submitter
- PIK3C2B p.Ala674Val Uncertain significance Single submitter
- PIK3C2B p.Ala711Gly Uncertain significance Single submitter
- PIK3C2B p.Ala766Thr Uncertain significance Single submitter
- PIK3C2B p.Ala860Thr Uncertain significance Single submitter
- PIK3C2B p.Arg1008Trp Uncertain significance Single submitter
- PIK3C2B p.Arg1020His Uncertain significance Single submitter
- PIK3C2B p.Arg1052Lys Uncertain significance Single submitter
- PIK3C2B p.Arg1079Cys Uncertain significance Single submitter
- PIK3C2B p.Arg1079His Uncertain significance Single submitter
- PIK3C2B p.Arg1099His Uncertain significance Single submitter
- PIK3C2B p.Arg1124Gln Uncertain significance Single submitter
- PIK3C2B p.Arg1124Trp Uncertain significance Single submitter
- PIK3C2B p.Arg1139Cys Uncertain significance Single submitter
- PIK3C2B p.Arg1154Pro Uncertain significance Single submitter
- PIK3C2B p.Arg1253Leu Uncertain significance Single submitter
- PIK3C2B p.Arg1269Cys Uncertain significance Single submitter
- PIK3C2B p.Arg1431His Uncertain significance Single submitter
- PIK3C2B p.Arg1612Gln Uncertain significance Single submitter
- PIK3C2B p.Arg1629Gln Uncertain significance Single submitter
- PIK3C2B p.Arg21Cys Uncertain significance Single submitter
- PIK3C2B p.Arg287Cys Uncertain significance Single submitter
- PIK3C2B p.Arg292Cys Uncertain significance Single submitter
- PIK3C2B p.Arg292His Uncertain significance Single submitter
- PIK3C2B p.Arg305Cys Uncertain significance Single submitter
- PIK3C2B p.Arg306Gln Uncertain significance Single submitter
- PIK3C2B p.Arg41Trp Uncertain significance Single submitter
- PIK3C2B p.Arg616Cys Uncertain significance Single submitter
- PIK3C2B p.Arg616His Uncertain significance Single submitter
- PIK3C2B p.Arg672Gly Uncertain significance Single submitter
- PIK3C2B p.Arg673Gly Uncertain significance Single submitter
- PIK3C2B p.Arg698Leu Uncertain significance Single submitter
- PIK3C2B p.Arg698Trp Uncertain significance Single submitter
- PIK3C2B p.Arg751Gln Uncertain significance Single submitter
- PIK3C2B p.Arg75Gln Uncertain significance Single submitter
- PIK3C2B p.Arg805Cys Uncertain significance Single submitter
- PIK3C2B p.Arg82Cys Uncertain significance Single submitter
- PIK3C2B p.Arg82Leu Uncertain significance Single submitter
- PIK3C2B p.Arg838Cys Uncertain significance Single submitter
- PIK3C2B p.Arg938His Uncertain significance Single submitter
- PIK3C2B p.Asn1033Ser Uncertain significance Single submitter
- PIK3C2B p.Asn104Lys Uncertain significance Single submitter
- PIK3C2B p.Asn1414Asp Uncertain significance Single submitter
- PIK3C2B p.Asn1451His Uncertain significance Single submitter
- PIK3C2B p.Asn298Ile Uncertain significance Single submitter
- PIK3C2B p.Asn396Ser Uncertain significance Single submitter
- PIK3C2B p.Asn7Ser Uncertain significance Single submitter
- PIK3C2B p.Asp1087Glu Uncertain significance Single submitter
- PIK3C2B p.Asp1199Asn Uncertain significance Single submitter
- PIK3C2B p.Asp126Glu Uncertain significance Single submitter
- PIK3C2B p.Asp251Gly Uncertain significance Single submitter
- PIK3C2B p.Asp454Gly Uncertain significance Single submitter
- PIK3C2B p.Asp870Glu Uncertain significance Single submitter
- PIK3C2B p.Cys1119Arg Uncertain significance Single submitter
- PIK3C2B p.Cys1373Phe Uncertain significance Single submitter
- PIK3C2B p.Cys151Trp Uncertain significance Single submitter
- PIK3C2B p.Gln1403Leu Uncertain significance Single submitter
- PIK3C2B p.Gln1589Leu Uncertain significance Single submitter
- PIK3C2B p.Gln197His Uncertain significance Single submitter
- PIK3C2B p.Gln557Glu Uncertain significance Single submitter
- PIK3C2B p.Gln689Glu Uncertain significance Single submitter
- PIK3C2B p.Glu1440Asp Uncertain significance Single submitter
- PIK3C2B p.Glu1444Asp Uncertain significance Single submitter
- PIK3C2B p.Glu1444Lys Uncertain significance Single submitter
- PIK3C2B p.Glu1466Lys Uncertain significance Single submitter
- PIK3C2B p.Glu212Asp Uncertain significance Single submitter
- PIK3C2B p.Glu258Asp Uncertain significance Single submitter
- PIK3C2B p.Glu664Lys Uncertain significance Single submitter
- PIK3C2B p.Glu9Lys Uncertain significance Single submitter
- PIK3C2B p.Gly1345Asp Uncertain significance Single submitter
- PIK3C2B p.Gly136Arg Uncertain significance Single submitter
- PIK3C2B p.Gly1435Ser Uncertain significance Single submitter
- PIK3C2B p.Gly176Arg Uncertain significance Single submitter
- PIK3C2B p.Gly230Val Uncertain significance Single submitter
- PIK3C2B p.Gly313Asp Uncertain significance Single submitter
- PIK3C2B p.Gly662Ser Uncertain significance Single submitter
- PIK3C2B p.His1397Arg Uncertain significance Single submitter
- PIK3C2B p.His1459Arg Uncertain significance Single submitter
- PIK3C2B p.His1475Tyr Uncertain significance Single submitter
- PIK3C2B p.Ile1018Leu Uncertain significance Single submitter
- PIK3C2B p.Ile1100Met Uncertain significance Single submitter
- PIK3C2B p.Ile1116Met Uncertain significance Single submitter
- PIK3C2B p.Ile1178Val Uncertain significance Single submitter
- PIK3C2B p.Ile1367Val Uncertain significance Single submitter
- PIK3C2B p.Ile1402Val Uncertain significance Single submitter
- PIK3C2B p.Ile1458Val Uncertain significance Single submitter
- PIK3C2B p.Ile183Phe Uncertain significance Single submitter
- PIK3C2B p.Ile307Ser Uncertain significance Single submitter
- PIK3C2B p.Ile58Val Uncertain significance Single submitter
- PIK3C2B p.Ile593Val Uncertain significance Single submitter
- PIK3C2B p.Ile644Leu Uncertain significance Single submitter
- PIK3C2B p.Ile690Met Uncertain significance Single submitter
- PIK3C2B p.Leu1419Pro Uncertain significance Single submitter
- PIK3C2B p.Leu249Val Uncertain significance Single submitter
- PIK3C2B p.Leu96Phe Uncertain significance Single submitter
- PIK3C2B p.Lys1270Glu Uncertain significance Single submitter
- PIK3C2B p.Lys12Asn Uncertain significance Single submitter
- PIK3C2B p.Lys175Arg Uncertain significance Single submitter
- PIK3C2B p.Lys663Arg Uncertain significance Single submitter
- PIK3C2B p.Lys663Met Uncertain significance Single submitter
- PIK3C2B p.Met1101Ile Uncertain significance Single submitter
- PIK3C2B p.Met248Val Uncertain significance Single submitter
- PIK3C2B p.Met280Leu Uncertain significance Single submitter
- PIK3C2B p.Pro1051Ser Uncertain significance Single submitter
- PIK3C2B p.Pro111Leu Uncertain significance Single submitter
- PIK3C2B p.Pro262Leu Uncertain significance Single submitter
- PIK3C2B p.Pro282Ser Uncertain significance Single submitter
- PIK3C2B p.Pro316Arg Uncertain significance Single submitter
- PIK3C2B p.Pro481Leu Uncertain significance Single submitter
- PIK3C2B p.Pro526Thr Uncertain significance Single submitter
- PIK3C2B p.Pro562Leu Uncertain significance Single submitter
- PIK3C2B p.Pro798Ala Uncertain significance Single submitter
- PIK3C2B p.Pro935Leu Uncertain significance Single submitter
- PIK3C2B p.Ser115Leu Uncertain significance Single submitter
- PIK3C2B p.Ser1492Tyr Uncertain significance Single submitter
- PIK3C2B p.Ser1511Tyr Uncertain significance Single submitter
- PIK3C2B p.Ser179Leu Uncertain significance Single submitter
- PIK3C2B p.Ser225Thr Uncertain significance Single submitter
- PIK3C2B p.Ser291Phe Uncertain significance Single submitter
- PIK3C2B p.Ser677Phe Uncertain significance Single submitter
- PIK3C2B p.Ser721Pro Uncertain significance Single submitter
- PIK3C2B p.Ser788Leu Uncertain significance Single submitter
- PIK3C2B p.Ser810Gly Uncertain significance Single submitter
- PIK3C2B p.Ser848Leu Uncertain significance Single submitter
- PIK3C2B p.Ser848Trp Uncertain significance Single submitter
- PIK3C2B p.Ser852Leu Uncertain significance Single submitter
- PIK3C2B p.Ser852Thr Uncertain significance Single submitter
- PIK3C2B p.Thr1094Met Uncertain significance Single submitter
- PIK3C2B p.Thr1188Met Uncertain significance Single submitter
- PIK3C2B p.Thr1344Met Uncertain significance Single submitter
- PIK3C2B p.Thr269Ala Uncertain significance Single submitter
- PIK3C2B p.Thr288Ile Uncertain significance Single submitter
- PIK3C2B p.Thr288Pro Uncertain significance Single submitter
- PIK3C2B p.Thr412Ala Uncertain significance Single submitter
- PIK3C2B p.Thr610Met Uncertain significance Single submitter
- PIK3C2B p.Thr879Ile Uncertain significance Single submitter
- PIK3C2B p.Thr90Ala Uncertain significance Single submitter
- PIK3C2B p.Trp166Ser Uncertain significance Single submitter
- PIK3C2B p.Tyr127Ser Uncertain significance Single submitter
- PIK3C2B p.Tyr228Cys Uncertain significance Single submitter
- PIK3C2B p.Tyr360Cys Uncertain significance Single submitter
- PIK3C2B p.Val575Phe Uncertain significance Single submitter
-
PIK3C2B p.Glu1595Gln
Uncertain significance
No assertion criteria
PIK3C2B-related disorder
-
PIK3C2B p.Val376Ile
Uncertain significance
No assertion criteria
PIK3C2B-related disorder
Predictors split 32
The independent predictors disagree with each other — read with care.
- PIK3C2B p.Pro273His Benign/Likely benign Multiple submitters
- PIK3C2B p.Arg1445Trp Uncertain significance Single submitter
- PIK3C2B p.Arg1562Gln Uncertain significance Single submitter
- PIK3C2B p.Arg237Trp Uncertain significance Single submitter
- PIK3C2B p.Arg39Trp Uncertain significance Single submitter
- PIK3C2B p.Arg473Pro Uncertain significance Single submitter
- PIK3C2B p.Arg473Trp Uncertain significance Single submitter
- PIK3C2B p.Arg701Gly Uncertain significance Single submitter
- PIK3C2B p.Asp402His Uncertain significance Single submitter
- PIK3C2B p.Asp964Asn Uncertain significance Single submitter
- PIK3C2B p.Cys1084Tyr Uncertain significance Single submitter
- PIK3C2B p.Gln31Lys Uncertain significance Single submitter
- PIK3C2B p.Gly430Arg Uncertain significance Single submitter
- PIK3C2B p.Gly755Cys Uncertain significance Single submitter
- PIK3C2B p.Ile1178Thr Uncertain significance Single submitter
- PIK3C2B p.Ile1212Val Uncertain significance Single submitter
- PIK3C2B p.Ile780Met Uncertain significance Single submitter
- PIK3C2B p.Lys272Gln Uncertain significance Single submitter
- PIK3C2B p.Lys272Thr Uncertain significance Single submitter
- PIK3C2B p.Met1131Ile Uncertain significance Single submitter
- PIK3C2B p.Met280Ile Uncertain significance Single submitter
- PIK3C2B p.Phe1068Leu Uncertain significance Single submitter
- PIK3C2B p.Phe1316Leu Uncertain significance Single submitter
- PIK3C2B p.Phe1432Leu Uncertain significance Single submitter
- PIK3C2B p.Phe808Leu Uncertain significance Single submitter
- PIK3C2B p.Pro1461Thr Uncertain significance Single submitter
- PIK3C2B p.Ser862Arg Uncertain significance Single submitter
- PIK3C2B p.Thr1400Pro Uncertain significance Single submitter
- PIK3C2B p.Thr737Ile Uncertain significance Single submitter
- PIK3C2B p.Tyr1315Cys Uncertain significance Single submitter
-
PIK3C2B p.Arg315Trp
Benign
No assertion criteria
PIK3C2B-related disorder
-
PIK3C2B p.Pro1462Leu
Uncertain significance
No assertion criteria
PIK3C2B-related disorder
All PIK3C2B variants
Conflicting classifications of pathogenicity 1
- p.Thr1621Ser Single submitter ⚠
Benign 23
- p.Asn1245= Multiple submitters
- p.Asn52= Multiple submitters
- p.Ser1364Cys Multiple submitters
- p.Val1602Ile Multiple submitters
- c.1566+8C>G No assertion criteria PIK3C2B-related disorder
- c.2773-7G>A No assertion criteria PIK3C2B-related disorder
- c.2773-9C>T No assertion criteria PIK3C2B-related disorder
- c.3517-5C>T No assertion criteria PIK3C2B-related disorder
- p.Arg315Trp No assertion criteria PIK3C2B-related disorder ⚠
- p.Arg75Trp No assertion criteria PIK3C2B-related disorder
- p.Asn541= No assertion criteria PIK3C2B-related disorder
- p.Glu1411= No assertion criteria PIK3C2B-related disorder
- p.His1397= No assertion criteria PIK3C2B-related disorder
- p.Ile684= No assertion criteria PIK3C2B-related disorder
- p.Leu1604= No assertion criteria PIK3C2B-related disorder
- p.Phe633= No assertion criteria PIK3C2B-related disorder
- p.Pro1461= No assertion criteria PIK3C2B-related disorder
- p.Pro1462= No assertion criteria PIK3C2B-related disorder
- p.Ser1511= No assertion criteria PIK3C2B-related disorder
- p.Ser765= No assertion criteria PIK3C2B-related disorder
- p.Ser859= No assertion criteria PIK3C2B-related disorder
- p.Thr1148= No assertion criteria PIK3C2B-related disorder
- p.Val1299= No assertion criteria PIK3C2B-related disorder
Benign/Likely benign 2
- c.1034+7G>A Multiple submitters
- p.Pro273His Multiple submitters ⚠
Likely benign 41
- p.Tyr1189= Multiple submitters
- c.3843+7A>C Single submitter
- p.Ala1302= Single submitter
- p.Ala163Val Single submitter
- p.Ala290Thr Single submitter
- p.Ala577Ser Single submitter
- p.Ala628Ser Single submitter
- p.Arg206Gln Single submitter
- p.Cys429= Single submitter
- p.Gln448= Single submitter
- p.His1397Gln Single submitter
- p.His205Arg Single submitter
- p.Leu223= Single submitter
- p.Lys1002Arg Single submitter
- p.Pro1012Gln Single submitter
- p.Pro55= Single submitter
- p.Ser242= Single submitter
- p.Ser270Pro Single submitter
- p.Thr1396Ala Single submitter
- c.1311-6_1311-5del No assertion criteria PIK3C2B-related disorder
- c.1422+4C>T No assertion criteria PIK3C2B-related disorder
- c.3048+7G>A No assertion criteria PIK3C2B-related disorder
- c.3049-4C>G No assertion criteria PIK3C2B-related disorder
- c.3843+6_3843+8del No assertion criteria PIK3C2B-related disorder
- c.4280+8C>T No assertion criteria PIK3C2B-related disorder
- c.4588-7A>G No assertion criteria PIK3C2B-related disorder
- p.Ala544= No assertion criteria PIK3C2B-related disorder
- p.Arg468Cys No assertion criteria PIK3C2B-related disorder
- p.Gln1006= No assertion criteria PIK3C2B-related disorder
- p.Glu1408= No assertion criteria PIK3C2B-related disorder
- p.Gly1502= No assertion criteria PIK3C2B-related disorder
- p.Gly661= No assertion criteria PIK3C2B-related disorder
- p.Ile1609= No assertion criteria PIK3C2B-related disorder
- p.Leu459= No assertion criteria PIK3C2B-related disorder
- p.Lys1362= No assertion criteria PIK3C2B-related disorder
- p.Pro717Leu No assertion criteria PIK3C2B-related disorder
- p.Ser1035= No assertion criteria PIK3C2B-related disorder
- p.Ser1041Thr No assertion criteria PIK3C2B-related disorder
- p.Ser909Leu No assertion criteria PIK3C2B-related disorder
- p.Thr1621= No assertion criteria PIK3C2B-related disorder
- p.Val1026Met No assertion criteria PIK3C2B-related disorder
Uncertain significance 187
- p.Ala246Val Single submitter ⚠
- p.Ala299Glu Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala674Val Single submitter ⚠
- p.Ala711Gly Single submitter ⚠
- p.Ala766Thr Single submitter ⚠
- p.Ala860Thr Single submitter ⚠
- p.Arg1008Trp Single submitter ⚠
- p.Arg1020His Single submitter ⚠
- p.Arg1052Lys Single submitter ⚠
- p.Arg1079Cys Single submitter ⚠
- p.Arg1079His Single submitter ⚠
- p.Arg1099His Single submitter ⚠
- p.Arg1113His Single submitter
- p.Arg1124Gln Single submitter ⚠
- p.Arg1124Trp Single submitter ⚠
- p.Arg1139Cys Single submitter ⚠
- p.Arg1154Pro Single submitter ⚠
- p.Arg1253Leu Single submitter ⚠
- p.Arg1269Cys Single submitter ⚠
- p.Arg1431His Single submitter ⚠
- p.Arg1445Trp Single submitter ⚠
- p.Arg1562Gln Single submitter ⚠
- p.Arg1562Trp Single submitter
- p.Arg1586Gln Single submitter
- p.Arg1612Gln Single submitter ⚠
- p.Arg1629Gln Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg451Leu Single submitter
- p.Arg473Pro Single submitter ⚠
- p.Arg473Trp Single submitter ⚠
- p.Arg616Cys Single submitter ⚠
- p.Arg616His Single submitter ⚠
- p.Arg672Gly Single submitter ⚠
- p.Arg673Gly Single submitter ⚠
- p.Arg698Leu Single submitter ⚠
- p.Arg698Trp Single submitter ⚠
- p.Arg701Gly Single submitter ⚠
- p.Arg751Gln Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg805Cys Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg82Leu Single submitter ⚠
- p.Arg838Cys Single submitter ⚠
- p.Arg938His Single submitter ⚠
- p.Asn1033Ser Single submitter ⚠
- p.Asn104Lys Single submitter ⚠
- p.Asn1414Asp Single submitter ⚠
- p.Asn1451His Single submitter ⚠
- p.Asn298Ile Single submitter ⚠
- p.Asn396Ser Single submitter ⚠
- p.Asn7Ser Single submitter ⚠
- p.Asp1087Glu Single submitter ⚠
- p.Asp1199Asn Single submitter ⚠
- p.Asp126Glu Single submitter ⚠
- p.Asp251Gly Single submitter ⚠
- p.Asp402His Single submitter ⚠
- p.Asp454Gly Single submitter ⚠
- p.Asp478Glu Single submitter
- p.Asp870Glu Single submitter ⚠
- p.Asp964Asn Single submitter ⚠
- p.Cys1084Tyr Single submitter ⚠
- p.Cys1119Arg Single submitter ⚠
- p.Cys1373Phe Single submitter ⚠
- p.Cys151Trp Single submitter ⚠
- p.Gln1403Leu Single submitter ⚠
- p.Gln1589Leu Single submitter ⚠
- p.Gln197His Single submitter ⚠
- p.Gln31Lys Single submitter ⚠
- p.Gln557Glu Single submitter ⚠
- p.Gln689Glu Single submitter ⚠
- p.Glu1440Asp Single submitter ⚠
- p.Glu1444Asp Single submitter ⚠
- p.Glu1444Lys Single submitter ⚠
- p.Glu1463fs Single submitter
- p.Glu1466Lys Single submitter ⚠
- p.Glu212Asp Single submitter ⚠
- p.Glu258Asp Single submitter ⚠
- p.Glu664Lys Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly1345Asp Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly1435Ser Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly230Val Single submitter ⚠
- p.Gly313Asp Single submitter ⚠
- p.Gly430Arg Single submitter ⚠
- p.Gly662Ser Single submitter ⚠
- p.Gly755Cys Single submitter ⚠
- p.His1397Arg Single submitter ⚠
- p.His1459Arg Single submitter ⚠
- p.His1475Tyr Single submitter ⚠
- p.His891Tyr Single submitter
- p.Ile1018Leu Single submitter ⚠
- p.Ile1100Met Single submitter ⚠
- p.Ile1116Met Single submitter ⚠
- p.Ile1178Thr Single submitter ⚠
- p.Ile1178Val Single submitter ⚠
- p.Ile1212Val Single submitter ⚠
- p.Ile1367Val Single submitter ⚠
- p.Ile1402Val Single submitter ⚠
- p.Ile1458Val Single submitter ⚠
- p.Ile183Phe Single submitter ⚠
- p.Ile307Ser Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Ile593Val Single submitter ⚠
- p.Ile644Leu Single submitter ⚠
- p.Ile690Met Single submitter ⚠
- p.Ile780Met Single submitter ⚠
- p.Leu1419Pro Single submitter ⚠
- p.Leu249Val Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Lys1270Glu Single submitter ⚠
- p.Lys12Asn Single submitter ⚠
- p.Lys175Arg Single submitter ⚠
- p.Lys272Gln Single submitter ⚠
- p.Lys272Thr Single submitter ⚠
- p.Lys663Arg Single submitter ⚠
- p.Lys663Met Single submitter ⚠
- p.Met1101Ile Single submitter ⚠
- p.Met1131Ile Single submitter ⚠
- p.Met248Val Single submitter ⚠
- p.Met280Ile Single submitter ⚠
- p.Met280Leu Single submitter ⚠
- p.Phe1068Leu Single submitter ⚠
- p.Phe1316Leu Single submitter ⚠
- p.Phe1432Leu Single submitter ⚠
- p.Phe808Leu Single submitter ⚠
- p.Pro1051Ser Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro1133Leu Single submitter
- p.Pro1461Thr Single submitter ⚠
- p.Pro1550Ser Single submitter
- p.Pro262Leu Single submitter ⚠
- p.Pro282Ser Single submitter ⚠
- p.Pro316Arg Single submitter ⚠
- p.Pro481Leu Single submitter ⚠
- p.Pro526Thr Single submitter ⚠
- p.Pro562Leu Single submitter ⚠
- p.Pro798Ala Single submitter ⚠
- p.Pro935Leu Single submitter ⚠
- p.Ser115Leu Single submitter ⚠
- p.Ser1492Tyr Single submitter ⚠
- p.Ser1511Tyr Single submitter ⚠
- p.Ser179Leu Single submitter ⚠
- p.Ser225Thr Single submitter ⚠
- p.Ser291Phe Single submitter ⚠
- p.Ser56fs Single submitter
- p.Ser677Phe Single submitter ⚠
- p.Ser721Pro Single submitter ⚠
- p.Ser788Leu Single submitter ⚠
- p.Ser810Gly Single submitter ⚠
- p.Ser848Leu Single submitter ⚠
- p.Ser848Trp Single submitter ⚠
- p.Ser852Leu Single submitter ⚠
- p.Ser852Thr Single submitter ⚠
- p.Ser862Arg Single submitter ⚠
- p.Thr1094Met Single submitter ⚠
- p.Thr1188Met Single submitter ⚠
- p.Thr1344Met Single submitter ⚠
- p.Thr1400Pro Single submitter ⚠
- p.Thr269Ala Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr288Pro Single submitter ⚠
- p.Thr412Ala Single submitter ⚠
- p.Thr610Met Single submitter ⚠
- p.Thr737Ile Single submitter ⚠
- p.Thr879Ile Single submitter ⚠
- p.Thr90Ala Single submitter ⚠
- p.Trp166Ser Single submitter ⚠
- p.Tyr127Ser Single submitter ⚠
- p.Tyr1315Cys Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Tyr360Cys Single submitter ⚠
- p.Val1560Leu Single submitter
- p.Val575Phe Single submitter ⚠
- p.Glu1595Gln No assertion criteria PIK3C2B-related disorder ⚠
- p.Pro1462Leu No assertion criteria PIK3C2B-related disorder ⚠
- p.Val376Ile No assertion criteria PIK3C2B-related disorder ⚠