PHLPP1 — 314 ClinVar variants

All ClinVar germline PHLPP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 281 flagged for review →

4 Benign · 20 Likely benign · 290 Uncertain significance

Full PHLPP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 281

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 lean, ClinVar uncertain 233

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 233

Predictors split 48

The independent predictors disagree with each other — read with care.

All PHLPP1 variants

Benign 4

p.His197= Multiple submitters
p.Phe291Val Multiple submitters
p.Pro1690= Multiple submitters
p.Gln1581del Single submitter

Likely benign 20

p.Ala28= Single submitter
p.Ala29= Single submitter
p.Ala30= Single submitter
p.Ala31= Single submitter
p.Ala32= Single submitter
p.Ala33= Single submitter
p.Ala40del Single submitter
p.Ala680Thr Single submitter
p.Arg905Cys Single submitter
p.Cys568Arg Single submitter
p.Met1085Val Single submitter
p.Pro273Ser Single submitter
p.Pro407Ser Single submitter
p.Ser372= Single submitter
p.Ser641= Single submitter
p.Ser677= Single submitter
p.Thr409= Single submitter
p.Val1382Ile Single submitter
p.Val306Ala Single submitter
p.Val595= Single submitter

Uncertain significance 290

p.Ala876Val Multiple submitters ⚠
p.Ala1004Val Single submitter ⚠
p.Ala107Thr Single submitter ⚠
p.Ala112Val Single submitter ⚠
p.Ala1167Thr Single submitter ⚠
p.Ala1191Thr Single submitter ⚠
p.Ala1264Thr Single submitter ⚠
p.Ala135_Ala137del Single submitter
p.Ala1395Ser Single submitter ⚠
p.Ala1539Thr Single submitter ⚠
p.Ala1623Asp Single submitter ⚠
p.Ala165Thr Single submitter ⚠
p.Ala257Gly Single submitter ⚠
p.Ala257Ser Single submitter ⚠
p.Ala26Asp Single submitter ⚠
p.Ala284Val Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala316Pro Single submitter ⚠
p.Ala34Thr Single submitter ⚠
p.Ala356Val Single submitter ⚠
p.Ala36Glu Single submitter ⚠
p.Ala383Thr Single submitter ⚠
p.Ala419Asp Single submitter ⚠
p.Ala419Gly Single submitter ⚠
p.Ala422Thr Single submitter ⚠
p.Ala429Thr Single submitter ⚠
p.Ala43Thr Single submitter ⚠
p.Ala43Val Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala54Val Single submitter ⚠
p.Ala87Glu Single submitter ⚠
p.Ala947Val Single submitter ⚠
p.Ala995Val Single submitter ⚠
p.Arg1047Gln Single submitter ⚠
p.Arg1084His Single submitter ⚠
p.Arg1140Cys Single submitter ⚠
p.Arg1140His Single submitter ⚠
p.Arg1140Leu Single submitter
p.Arg1202His Single submitter ⚠
p.Arg1213Gln Single submitter ⚠
p.Arg125Leu Single submitter ⚠
p.Arg1354Cys Single submitter ⚠
p.Arg1390Leu Single submitter ⚠
p.Arg1459Gln Single submitter ⚠
p.Arg1515Cys Single submitter ⚠
p.Arg1529Cys Single submitter ⚠
p.Arg1529His Single submitter ⚠
p.Arg1562Gln Single submitter ⚠
p.Arg1573Gln Single submitter ⚠
p.Arg1620Cys Single submitter ⚠
p.Arg1620His Single submitter ⚠
p.Arg1621Trp Single submitter ⚠
p.Arg1622Lys Single submitter ⚠
p.Arg1646Gln Single submitter ⚠
p.Arg1702Gln Single submitter ⚠
p.Arg1702Trp Single submitter ⚠
p.Arg170Gly Single submitter ⚠
p.Arg174Trp Single submitter ⚠
p.Arg258Pro Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Arg296Cys Single submitter ⚠
p.Arg296Gly Single submitter ⚠
p.Arg338Gly Single submitter ⚠
p.Arg395His Single submitter ⚠
p.Arg395Leu Single submitter ⚠
p.Arg396Cys Single submitter ⚠
p.Arg396Pro Single submitter ⚠
p.Arg431Cys Single submitter ⚠
p.Arg49Gly Single submitter ⚠
p.Arg522Pro Single submitter ⚠
p.Arg536Gln Single submitter ⚠
p.Arg536Trp Single submitter ⚠
p.Arg546Gly Single submitter ⚠
p.Arg638Cys Single submitter ⚠
p.Arg638His Single submitter ⚠
p.Arg861Lys Single submitter ⚠
p.Arg905His Single submitter ⚠
p.Arg917Gln Single submitter ⚠
p.Arg943Trp Single submitter
p.Arg961Gly Single submitter ⚠
p.Arg96Cys Single submitter ⚠
p.Asn1021Asp Single submitter ⚠
p.Asn1197Lys Single submitter ⚠
p.Asn1238Lys Single submitter ⚠
p.Asn1238Ser Single submitter ⚠
p.Asn1525Thr Single submitter ⚠
p.Asn700Ser Single submitter ⚠
p.Asn701Asp Single submitter ⚠
p.Asn894His Single submitter ⚠
p.Asp1066His Single submitter ⚠
p.Asp1212Glu Single submitter ⚠
p.Asp1394Asn Single submitter ⚠
p.Asp1496Asn Single submitter ⚠
p.Asp1549Asn Single submitter ⚠
p.Asp1714Asn Single submitter ⚠
p.Asp1714His Single submitter ⚠
p.Asp301Ala Single submitter ⚠
p.Asp346Glu Single submitter ⚠
p.Asp364Asn Single submitter ⚠
p.Asp382His Single submitter ⚠
p.Asp514Asn Single submitter ⚠
p.Asp661Glu Single submitter ⚠
p.Asp774Ala Single submitter ⚠
p.Asp786Asn Single submitter ⚠
p.Asp828Glu Single submitter ⚠
p.Cys1109Ser Single submitter ⚠
p.Cys1403Tyr Single submitter ⚠
p.Cys161Tyr Single submitter ⚠
p.Cys568Tyr Single submitter ⚠
p.Cys723Arg Single submitter ⚠
p.Cys723Tyr Single submitter ⚠
p.Cys789Ser Single submitter ⚠
p.Cys794Ser Single submitter ⚠
p.Cys930Tyr Single submitter ⚠
p.Gln1234Arg Single submitter ⚠
p.Gln1321His Single submitter ⚠
p.Gln250Arg Single submitter ⚠
p.Gln402Arg Single submitter ⚠
p.Gln674Ter Single submitter
p.Gln801Leu Single submitter ⚠
p.Glu1008Lys Single submitter
p.Glu1096Lys Single submitter ⚠
p.Glu1100Lys Single submitter ⚠
p.Glu1240Ala Single submitter ⚠
p.Glu1476Gln Single submitter ⚠
p.Glu1513Lys Single submitter ⚠
p.Glu1554Lys Single submitter ⚠
p.Glu1576Gly Single submitter ⚠
p.Glu275Gly Single submitter ⚠
p.Glu357Lys Single submitter ⚠
p.Glu380Asp Single submitter ⚠
p.Glu437Lys Single submitter ⚠
p.Glu780Lys Single submitter ⚠
p.Glu911Ala Single submitter ⚠
p.Glu911Gln Single submitter ⚠
p.Glu920Gly Single submitter ⚠
p.Gly111Arg Single submitter ⚠
p.Gly111Val Single submitter ⚠
p.Gly114Ser Single submitter ⚠
p.Gly115Asp Single submitter ⚠
p.Gly1330Ser Single submitter ⚠
p.Gly1437Ser Single submitter ⚠
p.Gly1465Ser Single submitter ⚠
p.Gly1544Val Single submitter ⚠
p.Gly16Asp Single submitter ⚠
p.Gly251Arg Single submitter ⚠
p.Gly253Arg Single submitter ⚠
p.Gly289Arg Single submitter ⚠
p.Gly289Asp Single submitter ⚠
p.Gly293Trp Single submitter ⚠
p.Gly311Arg Single submitter ⚠
p.Gly428Glu Single submitter ⚠
p.Gly48Ser Single submitter ⚠
p.Gly76Ala Single submitter ⚠
p.Gly88Arg Single submitter ⚠
p.Gly89Asp Single submitter ⚠
p.Gly89Val Single submitter ⚠
p.His1356Asp Single submitter ⚠
p.His181Arg Single submitter ⚠
p.His205Tyr Single submitter ⚠
p.His651Tyr Single submitter ⚠
p.His808Tyr Single submitter ⚠
p.Ile1065Thr Single submitter
p.Ile1065Val Single submitter ⚠
p.Ile1228Val Single submitter ⚠
p.Ile1248Val Single submitter ⚠
p.Ile1325Val Single submitter ⚠
p.Ile1597Leu Single submitter ⚠
p.Ile1618Thr Single submitter ⚠
p.Ile775Val Single submitter ⚠
p.Leu1141Pro Single submitter ⚠
p.Leu1696Phe Single submitter ⚠
p.Leu199Phe Single submitter ⚠
p.Leu55Arg Single submitter ⚠
p.Leu644Val Single submitter ⚠
p.Leu975Arg Single submitter ⚠
p.Lys1071Thr Single submitter ⚠
p.Lys575Arg Single submitter ⚠
p.Lys596Thr Single submitter ⚠
p.Lys694Glu Single submitter ⚠
p.Lys760Gln Single submitter ⚠
p.Lys984Gln Single submitter
p.Met1080Val Single submitter ⚠
p.Met1102Thr Single submitter ⚠
p.Met1310Ile Single submitter ⚠
p.Met1486Ile Single submitter ⚠
p.Met736Arg Single submitter ⚠
p.Met759Ile Single submitter ⚠
p.Phe1429Cys Single submitter ⚠
p.Phe1664Leu Single submitter ⚠
p.Phe990Leu Single submitter ⚠
p.Pro1076Leu Single submitter ⚠
p.Pro1099His Single submitter ⚠
p.Pro1364Leu Single submitter ⚠
p.Pro1498Ser Single submitter ⚠
p.Pro1499Leu Single submitter ⚠
p.Pro1500Leu Single submitter ⚠
p.Pro1508Ser Single submitter ⚠
p.Pro1511Leu Single submitter ⚠
p.Pro1658Leu Single submitter ⚠
p.Pro1668Leu Single submitter ⚠
p.Pro1692Leu Single submitter ⚠
p.Pro1694Leu Single submitter ⚠
p.Pro1701Leu Single submitter ⚠
p.Pro1701Ser Single submitter ⚠
p.Pro264Leu Single submitter ⚠
p.Pro264Ser Single submitter ⚠
p.Pro282Ser Single submitter ⚠
p.Pro294Leu Single submitter ⚠
p.Pro295Arg Single submitter ⚠
p.Pro299Leu Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro333His Single submitter ⚠
p.Pro337Ser Single submitter ⚠
p.Pro342Ser Single submitter ⚠
p.Pro365Ser Single submitter ⚠
p.Pro405Leu Single submitter ⚠
p.Pro413Ser Single submitter ⚠
p.Pro420Ser Single submitter ⚠
p.Pro75Ala Single submitter ⚠
p.Ser1007Cys Single submitter ⚠
p.Ser1168Cys Single submitter ⚠
p.Ser1311Asn Single submitter ⚠
p.Ser131Ala Single submitter ⚠
p.Ser1373Asn Single submitter ⚠
p.Ser138Phe Single submitter ⚠
p.Ser138Tyr Single submitter ⚠
p.Ser141Trp Single submitter ⚠
p.Ser1428Arg Single submitter ⚠
p.Ser151Phe Single submitter ⚠
p.Ser1533Gly Single submitter ⚠
p.Ser160Cys Single submitter ⚠
p.Ser166Thr Single submitter ⚠
p.Ser286Arg Single submitter ⚠
p.Ser286Asn Single submitter ⚠
p.Ser335Pro Single submitter ⚠
p.Ser355Gly Single submitter ⚠
p.Ser358Arg Single submitter ⚠
p.Ser368Arg Single submitter ⚠
p.Ser368Thr Single submitter ⚠
p.Ser515Thr Single submitter ⚠
p.Ser534Cys Single submitter ⚠
p.Ser607Phe Single submitter ⚠
p.Ser677Asn Single submitter ⚠
p.Ser68Cys Single submitter ⚠
p.Ser712Gly Single submitter ⚠
p.Ser768fs Single submitter Focal impaired awareness seizure
p.Ser940Asn Single submitter ⚠
p.Thr1005Met Single submitter ⚠
p.Thr1033Met Single submitter ⚠
p.Thr1077Ala Single submitter ⚠
p.Thr1224Ala Single submitter ⚠
p.Thr1282Ile Single submitter ⚠
p.Thr1339Met Single submitter
p.Thr1425Ile Single submitter ⚠
p.Thr169Ile Single submitter ⚠
p.Thr169Ser Single submitter ⚠
p.Thr1715Arg Single submitter ⚠
p.Thr1715Met Single submitter ⚠
p.Thr184Met Single submitter ⚠
p.Thr347Ser Single submitter ⚠
p.Thr409Ala Single submitter ⚠
p.Thr409Met Single submitter ⚠
p.Thr531Met Single submitter ⚠
p.Thr663Ile Single submitter ⚠
p.Thr715Ala Single submitter ⚠
p.Thr783Ala Single submitter ⚠
p.Tyr1178Cys Single submitter ⚠
p.Tyr624His Single submitter ⚠
p.Tyr878Cys Single submitter ⚠
p.Tyr878His Single submitter ⚠
p.Tyr895Cys Single submitter ⚠
p.Val1142Ile Single submitter ⚠
p.Val1244Ala Single submitter ⚠
p.Val1335Met Single submitter ⚠
p.Val1389Leu Single submitter ⚠
p.Val1419Leu Single submitter ⚠
p.Val1440Ala Single submitter ⚠
p.Val1556Ile Single submitter ⚠
p.Val206Phe Single submitter ⚠
p.Val244Leu Single submitter ⚠
p.Val330Ala Single submitter ⚠
p.Val334Leu Single submitter ⚠
p.Val390Ile Single submitter ⚠
p.Val430Ile Single submitter ⚠
p.Val634Ile Single submitter ⚠
p.Val733Ala Single submitter ⚠
p.Val885Phe Single submitter ⚠
p.Val969Met Single submitter ⚠
p.Val9Leu Single submitter ⚠