CPEB3 — 90 ClinVar variants
All ClinVar germline CPEB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
1 Benign · 1 Likely benign · 88 Uncertain significance
Full CPEB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPEB3 p.Ala101Ser Uncertain significance Single submitter
- CPEB3 p.Ala118Thr Uncertain significance Single submitter
- CPEB3 p.Ala254Pro Uncertain significance Single submitter
- CPEB3 p.Ala388Thr Uncertain significance Single submitter
- CPEB3 p.Ala409Gly Uncertain significance Single submitter
- CPEB3 p.Ala64Thr Uncertain significance Single submitter
- CPEB3 p.Ala97Thr Uncertain significance Single submitter
- CPEB3 p.Ala97Val Uncertain significance Single submitter
- CPEB3 p.Arg21Gly Uncertain significance Single submitter
- CPEB3 p.Arg21Pro Uncertain significance Single submitter
- CPEB3 p.Arg337Trp Uncertain significance Single submitter
- CPEB3 p.Arg438His Uncertain significance Single submitter
- CPEB3 p.Arg561Gln Uncertain significance Single submitter
- CPEB3 p.Arg689His Uncertain significance Single submitter
- CPEB3 p.Asn131Ser Uncertain significance Single submitter
- CPEB3 p.Asp417Gly Uncertain significance Single submitter
- CPEB3 p.Gln198Arg Uncertain significance Single submitter
- CPEB3 p.Gln89Pro Uncertain significance Single submitter
- CPEB3 p.Glu34Gly Uncertain significance Single submitter
- CPEB3 p.Glu493Gly Uncertain significance Single submitter
- CPEB3 p.Gly265Ser Uncertain significance Single submitter
- CPEB3 p.His692Pro Uncertain significance Single submitter
- CPEB3 p.His84Asp Uncertain significance Single submitter
- CPEB3 p.Lys315Arg Uncertain significance Single submitter
- CPEB3 p.Met134Val Uncertain significance Single submitter
- CPEB3 p.Met216Val Uncertain significance Single submitter
- CPEB3 p.Met382Val Uncertain significance Single submitter
- CPEB3 p.Phe123Ile Uncertain significance Single submitter
- CPEB3 p.Phe147Cys Uncertain significance Single submitter
- CPEB3 p.Pro140Ser Uncertain significance Single submitter
- CPEB3 p.Pro258Thr Uncertain significance Single submitter
- CPEB3 p.Pro63Ala Uncertain significance Single submitter
- CPEB3 p.Pro681Leu Uncertain significance Single submitter
- CPEB3 p.Pro68Gln Uncertain significance Single submitter
- CPEB3 p.Pro68Leu Uncertain significance Single submitter
- CPEB3 p.Pro90Gln Uncertain significance Single submitter
- CPEB3 p.Ser104Leu Uncertain significance Single submitter
- CPEB3 p.Ser10Thr Uncertain significance Single submitter
- CPEB3 p.Ser477Arg Uncertain significance Single submitter
- CPEB3 p.Thr110Ala Uncertain significance Single submitter
- CPEB3 p.Thr113Ala Uncertain significance Single submitter
- CPEB3 p.Thr150Ser Uncertain significance Single submitter
- CPEB3 p.Thr44Ser Uncertain significance Single submitter
- CPEB3 p.Thr458Ile Uncertain significance Single submitter
- CPEB3 p.Tyr369His Uncertain significance Single submitter
- CPEB3 p.Val146Ala Uncertain significance Single submitter
- CPEB3 p.Val248Met Uncertain significance Single submitter
- CPEB3 p.Val468Ala Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- CPEB3 p.Ala61Val Uncertain significance Single submitter
- CPEB3 p.Ala668Ser Uncertain significance Single submitter
- CPEB3 p.Arg429Leu Uncertain significance Single submitter
- CPEB3 p.Arg676Trp Uncertain significance Single submitter
- CPEB3 p.Arg696His Uncertain significance Single submitter
- CPEB3 p.Asn138Asp Uncertain significance Single submitter
- CPEB3 p.Asp336Asn Uncertain significance Single submitter
- CPEB3 p.Asp412Val Uncertain significance Single submitter
- CPEB3 p.Gln183Glu Uncertain significance Single submitter
- CPEB3 p.Gln19Arg Uncertain significance Single submitter
- CPEB3 p.Gln20His Uncertain significance Single submitter
- CPEB3 p.Ile381Thr Uncertain significance Single submitter
- CPEB3 p.Leu5Ser Uncertain significance Single submitter
- CPEB3 p.Met567Val Uncertain significance Single submitter
- CPEB3 p.Met73Thr Uncertain significance Single submitter
- CPEB3 p.Phe147Leu Uncertain significance Single submitter
- CPEB3 p.Phe151Leu Uncertain significance Single submitter
- CPEB3 p.Pro14Leu Uncertain significance Single submitter
- CPEB3 p.Pro166Arg Uncertain significance Single submitter
- CPEB3 p.Pro16His Uncertain significance Single submitter
- CPEB3 p.Pro171Leu Uncertain significance Single submitter
- CPEB3 p.Pro181Thr Uncertain significance Single submitter
- CPEB3 p.Pro39Arg Uncertain significance Single submitter
- CPEB3 p.Pro62Leu Uncertain significance Single submitter
- CPEB3 p.Pro63Thr Uncertain significance Single submitter
- CPEB3 p.Pro93Ser Uncertain significance Single submitter
- CPEB3 p.Pro96Arg Uncertain significance Single submitter
- CPEB3 p.Ser205Arg Uncertain significance Single submitter
- CPEB3 p.Ser239Leu Uncertain significance Single submitter
- CPEB3 p.Ser241Asn Uncertain significance Single submitter
- CPEB3 p.Ser253Arg Uncertain significance Single submitter
- CPEB3 p.Thr12Asn Uncertain significance Single submitter
- CPEB3 p.Thr428Ala Uncertain significance Single submitter
- CPEB3 p.Tyr341Cys Uncertain significance Single submitter
- CPEB3 p.Val276Leu Uncertain significance Single submitter
- CPEB3 p.Val276Met Uncertain significance Single submitter
- CPEB3 p.Val282Leu Uncertain significance Single submitter
- CPEB3 p.Val436Ala Uncertain significance Single submitter
- CPEB3 p.Val468Ile Uncertain significance Single submitter
- CPEB3 p.Val656Ile Uncertain significance Single submitter
All CPEB3 variants
Benign 1
- p.Val280= Multiple submitters
Likely benign 1
- p.Val226Ala Single submitter
Uncertain significance 88
- p.Ala101Ser Single submitter ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala254Pro Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala409Gly Single submitter ⚠
- p.Ala61Val Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala668Ser Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg21Gly Single submitter ⚠
- p.Arg21Pro Single submitter ⚠
- p.Arg337Trp Single submitter ⚠
- p.Arg429Leu Single submitter ⚠
- p.Arg438His Single submitter ⚠
- p.Arg561Gln Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg689His Single submitter ⚠
- p.Arg696His Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn138Asp Single submitter ⚠
- p.Asp336Asn Single submitter ⚠
- p.Asp412Val Single submitter ⚠
- p.Asp417Gly Single submitter ⚠
- p.Gln183Glu Single submitter ⚠
- p.Gln198Arg Single submitter ⚠
- p.Gln19Arg Single submitter ⚠
- p.Gln20His Single submitter ⚠
- p.Gln89Pro Single submitter ⚠
- p.Glu34Gly Single submitter ⚠
- p.Glu493Gly Single submitter ⚠
- p.Gly265Ser Single submitter ⚠
- p.His692Pro Single submitter ⚠
- p.His84Asp Single submitter ⚠
- p.Ile381Thr Single submitter ⚠
- p.Leu5Ser Single submitter ⚠
- p.Lys315Arg Single submitter ⚠
- p.Met134Val Single submitter ⚠
- p.Met216Val Single submitter ⚠
- p.Met382Val Single submitter ⚠
- p.Met567Val Single submitter ⚠
- p.Met73Thr Single submitter ⚠
- p.Phe123Ile Single submitter ⚠
- p.Phe147Cys Single submitter ⚠
- p.Phe147Leu Single submitter ⚠
- p.Phe151Leu Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Pro14Leu Single submitter ⚠
- p.Pro166Arg Single submitter ⚠
- p.Pro16His Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro181Thr Single submitter ⚠
- p.Pro258Thr Single submitter ⚠
- p.Pro39Arg Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Pro63Ala Single submitter ⚠
- p.Pro63Thr Single submitter ⚠
- p.Pro681Leu Single submitter ⚠
- p.Pro68Gln Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro90Gln Single submitter ⚠
- p.Pro93Ser Single submitter ⚠
- p.Pro96Arg Single submitter ⚠
- p.Ser104Leu Single submitter ⚠
- p.Ser10Thr Single submitter ⚠
- p.Ser205Arg Single submitter ⚠
- p.Ser239Leu Single submitter ⚠
- p.Ser241Asn Single submitter ⚠
- p.Ser253Arg Single submitter ⚠
- p.Ser477Arg Single submitter ⚠
- p.Thr110Ala Single submitter ⚠
- p.Thr113Ala Single submitter ⚠
- p.Thr12Asn Single submitter ⚠
- p.Thr150Ser Single submitter ⚠
- p.Thr428Ala Single submitter ⚠
- p.Thr44Ser Single submitter ⚠
- p.Thr458Ile Single submitter ⚠
- p.Tyr341Cys Single submitter ⚠
- p.Tyr369His Single submitter ⚠
- p.Val146Ala Single submitter ⚠
- p.Val248Met Single submitter ⚠
- p.Val276Leu Single submitter ⚠
- p.Val276Met Single submitter ⚠
- p.Val282Leu Single submitter ⚠
- p.Val436Ala Single submitter ⚠
- p.Val468Ala Single submitter ⚠
- p.Val468Ile Single submitter ⚠
- p.Val656Ile Single submitter ⚠