CREB3L4 — 55 ClinVar variants
All ClinVar germline CREB3L4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
6 Likely benign · 49 Uncertain significance
Full CREB3L4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CREB3L4 p.Ala231Thr Uncertain significance Single submitter
- CREB3L4 p.Ala275Gly Uncertain significance Single submitter
- CREB3L4 p.Ala285Ser Uncertain significance Single submitter
- CREB3L4 p.Ala362Thr Uncertain significance Single submitter
- CREB3L4 p.Arg226Cys Uncertain significance Single submitter
- CREB3L4 p.Arg226His Uncertain significance Single submitter
- CREB3L4 p.Arg235Trp Uncertain significance Single submitter
- CREB3L4 p.Arg387Gln Uncertain significance Single submitter
- CREB3L4 p.Arg41Ser Uncertain significance Single submitter
- CREB3L4 p.Arg56Cys Uncertain significance Single submitter
- CREB3L4 p.Asn76Ser Uncertain significance Single submitter
- CREB3L4 p.Glu265Asp Uncertain significance Single submitter
- CREB3L4 p.Glu348Lys Uncertain significance Single submitter
- CREB3L4 p.Glu353Asp Uncertain significance Single submitter
- CREB3L4 p.Glu374Lys Uncertain significance Single submitter
- CREB3L4 p.Gly378Arg Uncertain significance Single submitter
- CREB3L4 p.Gly53Asp Uncertain significance Single submitter
- CREB3L4 p.Gly59Ser Uncertain significance Single submitter
- CREB3L4 p.His391Arg Uncertain significance Single submitter
- CREB3L4 p.Leu112Phe Uncertain significance Single submitter
- CREB3L4 p.Lys262Asn Uncertain significance Single submitter
- CREB3L4 p.Met111Val Uncertain significance Single submitter
- CREB3L4 p.Pro131Leu Uncertain significance Single submitter
- CREB3L4 p.Pro15Leu Uncertain significance Single submitter
- CREB3L4 p.Pro183Ser Uncertain significance Single submitter
- CREB3L4 p.Pro320Leu Uncertain significance Single submitter
- CREB3L4 p.Pro329Ser Uncertain significance Single submitter
- CREB3L4 p.Pro382Leu Uncertain significance Single submitter
- CREB3L4 p.Pro75Leu Uncertain significance Single submitter
- CREB3L4 p.Thr172Ser Uncertain significance Single submitter
- CREB3L4 p.Thr179Lys Uncertain significance Single submitter
- CREB3L4 p.Thr339Ser Uncertain significance Single submitter
- CREB3L4 p.Val202Ala Uncertain significance Single submitter
- CREB3L4 p.Val351Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CREB3L4 p.Arg195His Uncertain significance Single submitter
- CREB3L4 p.Arg278Cys Uncertain significance Single submitter
- CREB3L4 p.Asp2Asn Uncertain significance Single submitter
- CREB3L4 p.Asp74His Uncertain significance Single submitter
- CREB3L4 p.Gln185His Uncertain significance Single submitter
- CREB3L4 p.Gln260Glu Uncertain significance Single submitter
- CREB3L4 p.Glu93Lys Uncertain significance Single submitter
- CREB3L4 p.Gly384Trp Uncertain significance Single submitter
- CREB3L4 p.Gly4Arg Uncertain significance Single submitter
- CREB3L4 p.Leu307Val Uncertain significance Single submitter
- CREB3L4 p.Phe316Leu Uncertain significance Single submitter
- CREB3L4 p.Pro102Arg Uncertain significance Single submitter
- CREB3L4 p.Pro85Leu Uncertain significance Single submitter
- CREB3L4 p.Ser383Asn Uncertain significance Single submitter
- CREB3L4 p.Thr282Met Likely benign Single submitter
- CREB3L4 p.Val389Met Uncertain significance Single submitter
All CREB3L4 variants
Likely benign 6
- p.Arg385His Single submitter
- p.Gly384Arg Single submitter
- p.Met111Thr Single submitter
- p.Phe147Leu Single submitter
- p.Ser388Thr Single submitter
- p.Thr282Met Single submitter ⚠
Uncertain significance 49
- p.Ala231Thr Single submitter ⚠
- p.Ala275Gly Single submitter ⚠
- p.Ala285Ser Single submitter ⚠
- p.Ala362Thr Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg387Gln Single submitter ⚠
- p.Arg41Ser Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Asn76Ser Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Asp74His Single submitter ⚠
- p.Gln185His Single submitter ⚠
- p.Gln260Glu Single submitter ⚠
- p.Glu265Asp Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu353Asp Single submitter ⚠
- p.Glu374Lys Single submitter ⚠
- p.Glu93Lys Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly384Trp Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.Gly59Ser Single submitter ⚠
- p.His391Arg Single submitter ⚠
- p.Leu112Phe Single submitter ⚠
- p.Leu307Val Single submitter ⚠
- p.Lys262Asn Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Phe316Leu Single submitter ⚠
- p.Pro102Arg Single submitter ⚠
- p.Pro131Leu Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro183Ser Single submitter ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro382Leu Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Ser383Asn Single submitter ⚠
- p.Thr172Ser Single submitter ⚠
- p.Thr179Lys Single submitter ⚠
- p.Thr339Ser Single submitter ⚠
- p.Val202Ala Single submitter ⚠
- p.Val351Leu Single submitter ⚠
- p.Val389Met Single submitter ⚠