CREB1 — 28 ClinVar variants

All ClinVar germline CREB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →

3 Benign · 1 Benign/Likely benign · 1 Likely benign · 23 Uncertain significance

Full CREB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 23

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 14

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 9

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

All CREB1 variants

Benign 3

p.Ala72= Multiple submitters
p.Gln191= Single submitter
p.Leu315= Single submitter

Benign/Likely benign 1

p.Thr194= Multiple submitters

Likely benign 1

p.Pro81= Single submitter

Uncertain significance 23

p.Ala148Thr Single submitter ⚠
p.Ala150Ser Single submitter ⚠
p.Ala176Glu Single submitter ⚠
p.Ala259Thr Single submitter ⚠
p.Ala43Glu Single submitter ⚠
p.Ala46Gly Single submitter ⚠
p.Ala46Val Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Asn60Thr Single submitter ⚠
p.Gln10Leu Single submitter ⚠
p.Gln236Arg Single submitter ⚠
p.Gln23Glu Single submitter ⚠
p.Gln30Arg Single submitter ⚠
p.Glu285Lys Single submitter histiocytoma, Angiomatoid fibrous ⚠
p.Glu8Lys Single submitter ⚠
p.Ile123Leu Single submitter ⚠
p.Ile160Val Single submitter ⚠
p.Ile91Met Single submitter ⚠
p.Ile91Thr Single submitter ⚠
p.Ile91Val Single submitter ⚠
p.Pro261Thr Single submitter ⚠
p.Thr205Asn Single submitter ⚠
p.Asp102Gly No assertion criteria Variant of unknown significance ⚠