CREB3L2 — 65 ClinVar variants
All ClinVar germline CREB3L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
2 Likely benign · 63 Uncertain significance
Full CREB3L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CREB3L2 p.Arg223Cys Uncertain significance Single submitter
- CREB3L2 p.Arg241Gln Uncertain significance Single submitter
- CREB3L2 p.Arg299Gln Uncertain significance Single submitter
- CREB3L2 p.Arg90Gln Uncertain significance Single submitter
- CREB3L2 p.Asn304Ser Uncertain significance Single submitter
- CREB3L2 p.Asn504Lys Uncertain significance Single submitter
- CREB3L2 p.Asp198Glu Uncertain significance Single submitter
- CREB3L2 p.Asp198Gly Uncertain significance Single submitter
- CREB3L2 p.Asp513Asn Uncertain significance Single submitter
- CREB3L2 p.Gln416Arg Uncertain significance Single submitter
- CREB3L2 p.Gln92His Uncertain significance Single submitter
- CREB3L2 p.Glu344Lys Uncertain significance Single submitter
- CREB3L2 p.Glu481Lys Uncertain significance Single submitter
- CREB3L2 p.Gly137Arg Uncertain significance Single submitter
- CREB3L2 p.Gly165Arg Uncertain significance Single submitter
- CREB3L2 p.Gly452Ser Uncertain significance Single submitter
- CREB3L2 p.Gly464Arg Uncertain significance Single submitter
- CREB3L2 p.His435Arg Uncertain significance Single submitter
- CREB3L2 p.His97Arg Uncertain significance Single submitter
- CREB3L2 p.Ile146Val Uncertain significance Single submitter
- CREB3L2 p.Ile174Leu Uncertain significance Single submitter
- CREB3L2 p.Leu501Pro Uncertain significance Single submitter
- CREB3L2 p.Lys356Arg Uncertain significance Single submitter
- CREB3L2 p.Lys364Arg Uncertain significance Single submitter
- CREB3L2 p.Met162Val Uncertain significance Single submitter
- CREB3L2 p.Met31Lys Uncertain significance Single submitter
- CREB3L2 p.Met31Thr Uncertain significance Single submitter
- CREB3L2 p.Pro121Thr Uncertain significance Single submitter
- CREB3L2 p.Pro152Thr Uncertain significance Single submitter
- CREB3L2 p.Pro158Thr Uncertain significance Single submitter
- CREB3L2 p.Pro207Leu Uncertain significance Single submitter
- CREB3L2 p.Pro230Leu Uncertain significance Single submitter
- CREB3L2 p.Pro438Ser Uncertain significance Single submitter
- CREB3L2 p.Pro438Thr Uncertain significance Single submitter
- CREB3L2 p.Pro444Leu Uncertain significance Single submitter
- CREB3L2 p.Pro469Leu Uncertain significance Single submitter
- CREB3L2 p.Pro68Leu Uncertain significance Single submitter
- CREB3L2 p.Ser479Pro Uncertain significance Single submitter
- CREB3L2 p.Ser498Gly Uncertain significance Single submitter
- CREB3L2 p.Ser63Pro Uncertain significance Single submitter
- CREB3L2 p.Ser93Trp Uncertain significance Single submitter
- CREB3L2 p.Thr151Asn Uncertain significance Single submitter
- CREB3L2 p.Val109Met Uncertain significance Single submitter
- CREB3L2 p.Val139Ile Uncertain significance Single submitter
- CREB3L2 p.Val389Ile Uncertain significance Single submitter
- CREB3L2 p.Val497Asp Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CREB3L2 p.Ala294Ser Uncertain significance Single submitter
- CREB3L2 p.Arg348Ser Uncertain significance Single submitter
- CREB3L2 p.Arg90Trp Uncertain significance Single submitter
- CREB3L2 p.Glu133Lys Uncertain significance Single submitter
- CREB3L2 p.Glu87Lys Uncertain significance Single submitter
- CREB3L2 p.Gly392Ser Uncertain significance Single submitter
- CREB3L2 p.His225Tyr Uncertain significance Single submitter
- CREB3L2 p.Lys17Glu Uncertain significance Single submitter
- CREB3L2 p.Lys338Asn Uncertain significance Single submitter
- CREB3L2 p.Pro134Arg Uncertain significance Single submitter
- CREB3L2 p.Pro226Leu Uncertain significance Single submitter
- CREB3L2 p.Pro55Ala Uncertain significance Single submitter
- CREB3L2 p.Ser236Cys Uncertain significance Single submitter
- CREB3L2 p.Thr253Met Uncertain significance Single submitter
- CREB3L2 p.Thr368Ile Uncertain significance Single submitter
- CREB3L2 p.Tyr398Cys Uncertain significance Single submitter
- CREB3L2 p.Val423Met Uncertain significance Single submitter
All CREB3L2 variants
Likely benign 2
- p.Ile173Val Single submitter
- p.Pro438Leu Single submitter
Uncertain significance 63
- p.Ala294Ser Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg348Ser Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn304Ser Single submitter ⚠
- p.Asn504Lys Single submitter ⚠
- p.Asp198Glu Single submitter ⚠
- p.Asp198Gly Single submitter ⚠
- p.Asp513Asn Single submitter ⚠
- p.Gln416Arg Single submitter ⚠
- p.Gln92His Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Glu481Lys Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly165Arg Single submitter ⚠
- p.Gly392Ser Single submitter ⚠
- p.Gly452Ser Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.His225Tyr Single submitter ⚠
- p.His435Arg Single submitter ⚠
- p.His97Arg Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile174Leu Single submitter ⚠
- p.Leu501Pro Single submitter ⚠
- p.Lys17Glu Single submitter ⚠
- p.Lys338Asn Single submitter ⚠
- p.Lys356Arg Single submitter ⚠
- p.Lys364Arg Single submitter ⚠
- p.Met162Val Single submitter ⚠
- p.Met31Lys Single submitter ⚠
- p.Met31Thr Single submitter ⚠
- p.Pro121Thr Single submitter ⚠
- p.Pro134Arg Single submitter ⚠
- p.Pro152Thr Single submitter ⚠
- p.Pro158Thr Single submitter ⚠
- p.Pro207Leu Single submitter ⚠
- p.Pro226Leu Single submitter ⚠
- p.Pro230Leu Single submitter ⚠
- p.Pro438Ser Single submitter ⚠
- p.Pro438Thr Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Pro55Ala Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Ser236Cys Single submitter ⚠
- p.Ser479Pro Single submitter ⚠
- p.Ser498Gly Single submitter ⚠
- p.Ser63Pro Single submitter ⚠
- p.Ser93Trp Single submitter ⚠
- p.Thr151Asn Single submitter ⚠
- p.Thr253Met Single submitter ⚠
- p.Thr368Ile Single submitter ⚠
- p.Tyr398Cys Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val139Ile Single submitter ⚠
- p.Val389Ile Single submitter ⚠
- p.Val423Met Single submitter ⚠
- p.Val497Asp Single submitter ⚠