CREBL2 — 11 ClinVar variants
All ClinVar germline CREBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Likely pathogenic · 10 Uncertain significance
Full CREBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CREBL2 p.Ala64Ser Uncertain significance Single submitter
- CREBL2 p.Asp114His Uncertain significance Single submitter
- CREBL2 p.Gln81Lys Uncertain significance Single submitter
- CREBL2 p.Gly15Ser Uncertain significance Single submitter
- CREBL2 p.Ser105Asn Uncertain significance Single submitter
- CREBL2 p.Ser4Thr Uncertain significance Single submitter
- CREBL2 p.Val7Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CREBL2 variants
Likely pathogenic 1
- p.Arg58Ter Single submitter
Uncertain significance 10
- p.Ala64Ser Single submitter ⚠
- p.Asp114His Single submitter ⚠
- p.Gln81Lys Single submitter ⚠
- p.Glu87Asp Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Met79Val Single submitter ⚠
- p.Ser100Cys Single submitter ⚠
- p.Ser105Asn Single submitter ⚠
- p.Ser4Thr Single submitter ⚠
- p.Val7Ala Single submitter ⚠