PEAK1 — 267 ClinVar variants

All ClinVar germline PEAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

1 Conflicting · 4 Benign · 23 Likely benign · 239 Uncertain significance

Full PEAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 233

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.

PEAK1 p.Thr783Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 201

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 201

Predictors split 31

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

All PEAK1 variants

Conflicting classifications of pathogenicity 1

p.Thr783Ile Single submitter ⚠

Benign 4

p.Asn1193= No assertion criteria PEAK1-related disorder
p.Glu1166Asp No assertion criteria PEAK1-related disorder
p.Ile1243Val No assertion criteria PEAK1-related disorder
p.Thr1077Pro No assertion criteria PEAK1-related disorder

Likely benign 23

p.Arg1223His Single submitter
p.Asp1010Glu Single submitter
p.His208Arg Single submitter
p.Ile799Val Single submitter
p.Leu1517= Single submitter
p.Lys1453Arg Single submitter
p.Met1015Thr Single submitter
p.Pro390Leu Single submitter
p.Pro516Ser Single submitter
p.Thr1429Met Single submitter
c.3331+8C>T No assertion criteria PEAK1-related disorder
p.Ala1533= No assertion criteria PEAK1-related disorder
p.Asp1573= No assertion criteria PEAK1-related disorder
p.Glu1592= No assertion criteria PEAK1-related disorder
p.Glu246= No assertion criteria PEAK1-related disorder
p.Leu1238= No assertion criteria PEAK1-related disorder
p.Leu1308= No assertion criteria PEAK1-related disorder
p.Pro1229= No assertion criteria PEAK1-related disorder
p.Ser1104Asn No assertion criteria PEAK1-related disorder
p.Ser1683= No assertion criteria PEAK1-related disorder
p.Ser440Pro No assertion criteria PEAK1-related disorder
p.Ser877= No assertion criteria PEAK1-related disorder
p.Val771Met No assertion criteria PEAK1-related disorder ⚠

Uncertain significance 239

p.Ala1079Thr Single submitter ⚠
p.Ala109Gly Single submitter ⚠
p.Ala1135Thr Single submitter ⚠
p.Ala1231Thr Single submitter ⚠
p.Ala1376Thr Single submitter ⚠
p.Ala157Gly Single submitter ⚠
p.Ala1659Thr Single submitter ⚠
p.Ala402Thr Single submitter ⚠
p.Ala415Val Single submitter ⚠
p.Ala418Pro Single submitter ⚠
p.Ala482Val Single submitter
p.Ala569Val Single submitter ⚠
p.Ala617Thr Single submitter
p.Ala917Thr Single submitter ⚠
p.Ala917Val Single submitter ⚠
p.Ala977Val Single submitter ⚠
p.Arg1032Lys Single submitter ⚠
p.Arg1059Trp Single submitter ⚠
p.Arg106Gln Single submitter ⚠
p.Arg1257Gln Single submitter ⚠
p.Arg1257Trp Single submitter ⚠
p.Arg1258His Single submitter ⚠
p.Arg1266Gln Single submitter ⚠
p.Arg1278Gln Single submitter ⚠
p.Arg1283Gln Single submitter ⚠
p.Arg1283Trp Single submitter ⚠
p.Arg1291Gln Single submitter ⚠
p.Arg1378Gln Single submitter ⚠
p.Arg1401Cys Single submitter ⚠
p.Arg1572Trp Single submitter ⚠
p.Arg1631His Single submitter ⚠
p.Arg1631Leu Single submitter ⚠
p.Arg1636Pro Single submitter ⚠
p.Arg173Lys Single submitter ⚠
p.Arg1746His Single submitter ⚠
p.Arg186Gln Single submitter ⚠
p.Arg186Pro Single submitter ⚠
p.Arg224Trp Single submitter ⚠
p.Arg265Cys Single submitter ⚠
p.Arg265Gly Single submitter ⚠
p.Arg542Gln Single submitter ⚠
p.Arg54His Single submitter ⚠
p.Arg56Gly Single submitter ⚠
p.Arg699Gly Single submitter ⚠
p.Arg888Ser Single submitter
p.Arg916Gln Single submitter ⚠
p.Arg934His Single submitter
p.Arg935Gln Single submitter ⚠
p.Arg935Trp Single submitter ⚠
p.Arg947Gln Single submitter ⚠
p.Asn118Asp Single submitter ⚠
p.Asn1354Asp Single submitter ⚠
p.Asn136Asp Single submitter ⚠
p.Asn1649Ser Single submitter ⚠
p.Asn366Asp Single submitter ⚠
p.Asn42Lys Single submitter ⚠
p.Asn451Lys Single submitter ⚠
p.Asn48Ser Single submitter ⚠
p.Asn506Ile Single submitter ⚠
p.Asn52Lys Single submitter ⚠
p.Asn693Asp Single submitter ⚠
p.Asn710Lys Single submitter ⚠
p.Asn710Tyr Single submitter ⚠
p.Asn892Ser Single submitter ⚠
p.Asp1055His Single submitter ⚠
p.Asp1132Tyr Single submitter ⚠
p.Asp1171Asn Single submitter ⚠
p.Asp1473Gly Single submitter ⚠
p.Asp1477Asn Single submitter ⚠
p.Asp288Asn Single submitter ⚠
p.Asp308Gly Single submitter ⚠
p.Asp311Gly Single submitter ⚠
p.Asp345Gly Single submitter ⚠
p.Asp81Asn Single submitter ⚠
p.Asp81Tyr Single submitter ⚠
p.Cys1305Tyr Single submitter ⚠
p.Cys1335Arg Single submitter ⚠
p.Cys1590Arg Single submitter ⚠
p.Cys1738Gly Single submitter ⚠
p.Cys791Arg Single submitter ⚠
p.Gln1004Pro Single submitter ⚠
p.Gln1444Glu Single submitter ⚠
p.Gln1574Glu Single submitter ⚠
p.Gln1639Glu Single submitter ⚠
p.Gln749Glu Single submitter ⚠
p.Glu1088Ala Single submitter ⚠
p.Glu1177Gly Single submitter ⚠
p.Glu121Lys Single submitter ⚠
p.Glu1306Lys Single submitter ⚠
p.Glu1406Asp Single submitter ⚠
p.Glu1406Lys Single submitter ⚠
p.Glu1446Lys Single submitter ⚠
p.Glu1520Gly Single submitter ⚠
p.Glu1580Gly Single submitter ⚠
p.Glu1672Lys Single submitter ⚠
p.Glu350Lys Single submitter ⚠
p.Glu435Lys Single submitter ⚠
p.Glu490Lys Single submitter ⚠
p.Glu828Lys Single submitter ⚠
p.Glu906Val Single submitter ⚠
p.Gly1138Glu Single submitter ⚠
p.Gly1267Ala Single submitter ⚠
p.Gly1392Asp Single submitter ⚠
p.Gly1530Glu Single submitter ⚠
p.Gly1531Arg Single submitter ⚠
p.Gly200Arg Single submitter ⚠
p.Gly319Asp Single submitter ⚠
p.Gly319Ser Single submitter ⚠
p.Gly329Arg Single submitter ⚠
p.Gly331Glu Single submitter ⚠
p.Gly41Asp Single submitter ⚠
p.Gly979Val Single submitter ⚠
p.His1511Arg Single submitter ⚠
p.His889Tyr Single submitter ⚠
p.His94Gln Single submitter ⚠
p.Ile101Val Single submitter ⚠
p.Ile1190Thr Single submitter ⚠
p.Ile1212Val Single submitter ⚠
p.Ile1268Met Single submitter ⚠
p.Ile294Met Single submitter ⚠
p.Ile428Phe Single submitter ⚠
p.Ile450Val Single submitter ⚠
p.Ile628Val Single submitter ⚠
p.Ile640Val Single submitter ⚠
p.Ile85Leu Single submitter ⚠
p.Leu1308Phe Single submitter ⚠
p.Leu1353Val Single submitter ⚠
p.Leu241Arg Single submitter ⚠
p.Leu241Val Single submitter ⚠
p.Leu360Ser Single submitter ⚠
p.Leu369Phe Single submitter ⚠
p.Leu419Val Single submitter ⚠
p.Leu820Phe Single submitter ⚠
p.Leu885Pro Single submitter
p.Lys1127Arg Single submitter ⚠
p.Lys1170Glu Single submitter ⚠
p.Lys1304Gln Single submitter ⚠
p.Lys140Glu Single submitter ⚠
p.Lys1426Glu Single submitter ⚠
p.Lys1484Glu Single submitter ⚠
p.Lys1709Arg Single submitter ⚠
p.Lys363Asn Single submitter ⚠
p.Lys363Glu Single submitter ⚠
p.Lys363Met Single submitter ⚠
p.Lys378Arg Single submitter ⚠
p.Lys811Glu Single submitter ⚠
p.Lys857Arg Single submitter ⚠
p.Met1159Val Single submitter ⚠
p.Met1418Val Single submitter ⚠
p.Met1451Leu Single submitter ⚠
p.Met1703Thr Single submitter
p.Met77Lys Single submitter ⚠
p.Met990Val Single submitter ⚠
p.Pro1058Ser Single submitter ⚠
p.Pro1097Arg Single submitter ⚠
p.Pro1260Leu Single submitter ⚠
p.Pro1271Leu Single submitter ⚠
p.Pro1352Leu Single submitter ⚠
p.Pro1404Ser Single submitter ⚠
p.Pro1529Ala Single submitter ⚠
p.Pro1650Ala Single submitter ⚠
p.Pro194Ser Single submitter ⚠
p.Pro228Gln Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro516Leu Single submitter ⚠
p.Pro557Ser Single submitter ⚠
p.Pro605Ser Single submitter ⚠
p.Pro614Leu Single submitter ⚠
p.Pro69Thr Single submitter ⚠
p.Pro741Ala Single submitter ⚠
p.Pro741Ser Single submitter ⚠
p.Pro788Leu Single submitter ⚠
p.Pro825Ser Single submitter ⚠
p.Pro832Ser Single submitter ⚠
p.Pro853Leu Single submitter ⚠
p.Pro967Ala Single submitter ⚠
p.Ser1035Tyr Single submitter ⚠
p.Ser1036Phe Single submitter ⚠
p.Ser1075Leu Single submitter ⚠
p.Ser1179Ile Single submitter ⚠
p.Ser1237Asn Single submitter ⚠
p.Ser1374Gly Single submitter ⚠
p.Ser1442Ala Single submitter ⚠
p.Ser1478Phe Single submitter ⚠
p.Ser1502Cys Single submitter ⚠
p.Ser1657Thr Single submitter ⚠
p.Ser236Asn Single submitter ⚠
p.Ser236Gly Single submitter ⚠
p.Ser255Thr Single submitter ⚠
p.Ser327Cys Single submitter ⚠
p.Ser346Tyr Single submitter
p.Ser392Asn Single submitter ⚠
p.Ser507Pro Single submitter ⚠
p.Ser511Leu Single submitter ⚠
p.Ser526Cys Single submitter ⚠
p.Ser537Phe Single submitter ⚠
p.Ser619Asn Single submitter ⚠
p.Ser620Tyr Single submitter ⚠
p.Ser725Arg Single submitter ⚠
p.Ser727Asn Single submitter ⚠
p.Ser819Tyr Single submitter ⚠
p.Ser877Thr Single submitter ⚠
p.Ser902Ala Single submitter ⚠
p.Ser930Asn Single submitter ⚠
p.Ser982Ile Single submitter ⚠
p.Thr1049Pro Single submitter ⚠
p.Thr1074Ser Single submitter ⚠
p.Thr1513Ser Single submitter
p.Thr1732Ala Single submitter ⚠
p.Thr1732Ser Single submitter ⚠
p.Thr1733Ile Single submitter ⚠
p.Thr412Ile Single submitter ⚠
p.Thr539Ala Single submitter ⚠
p.Thr76Pro Single submitter ⚠
p.Thr813Met Single submitter ⚠
p.Thr852Ala Single submitter ⚠
p.Thr852Asn Single submitter ⚠
p.Thr876Ala Single submitter ⚠
p.Thr891Ala Single submitter ⚠
p.Thr975Ile Single submitter ⚠
p.Trp1694Cys Single submitter ⚠
p.Trp1722Gly Single submitter ⚠
p.Tyr1188Cys Single submitter ⚠
p.Tyr1205Cys Single submitter ⚠
p.Tyr1348Cys Single submitter ⚠
p.Tyr1371Cys Single submitter ⚠
p.Tyr387Cys Single submitter ⚠
p.Val1525Ile Single submitter ⚠
p.Val152Met Single submitter ⚠
p.Val217Leu Single submitter ⚠
p.Val240Ile Single submitter ⚠
p.Val287Ala Single submitter ⚠
p.Val416Phe Single submitter ⚠
p.Val430Leu Single submitter ⚠
p.Val464Ala Single submitter ⚠
p.Val478Leu Single submitter ⚠
p.Val493Ile Single submitter ⚠
p.Val548Gly Single submitter ⚠
p.Val859Met Single submitter ⚠