CELA2B — 57 ClinVar variants
All ClinVar germline CELA2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Benign · 8 Likely benign · 48 Uncertain significance
Full CELA2B 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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELA2B p.Ala203Pro Uncertain significance Single submitter
- CELA2B p.Asp25Val Uncertain significance Single submitter
- CELA2B p.Cys210Gly Uncertain significance Single submitter
- CELA2B p.Cys74Arg Uncertain significance Single submitter
- CELA2B p.Gly119Arg Uncertain significance Single submitter
- CELA2B p.Gly159Val Uncertain significance Single submitter
- CELA2B p.Gly18Val Uncertain significance Single submitter
- CELA2B p.Gly59Arg Uncertain significance Single submitter
- CELA2B p.Gly96Ser Uncertain significance Single submitter
- CELA2B p.Leu237Pro Uncertain significance Single submitter
- CELA2B p.Leu69Pro Uncertain significance Single submitter
- CELA2B p.Met84Arg Uncertain significance Single submitter
- CELA2B p.Pro150Ser Uncertain significance Single submitter
- CELA2B p.Thr21Ala Uncertain significance Single submitter
- CELA2B p.Thr70Met Uncertain significance Single submitter
- CELA2B p.Thr9Ser Uncertain significance Single submitter
- CELA2B p.Trp54Arg Uncertain significance Single submitter
- CELA2B p.Tyr258Cys Uncertain significance Single submitter
- CELA2B p.Val100Ile Uncertain significance Single submitter
- CELA2B p.Val180Gly Uncertain significance Single submitter
- CELA2B p.Val196Gly Uncertain significance Single submitter
- CELA2B p.Val255Asp Uncertain significance Single submitter
- CELA2B p.Val68Asp Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CELA2B p.Ala128Thr Uncertain significance Single submitter
- CELA2B p.Ala14Val Uncertain significance Single submitter
- CELA2B p.Ala35Val Likely benign Single submitter
- CELA2B p.Arg228Gln Likely benign Single submitter
- CELA2B p.Arg228Trp Uncertain significance Single submitter
- CELA2B p.Asn129Lys Uncertain significance Single submitter
- CELA2B p.Asp226Val Uncertain significance Single submitter
- CELA2B p.Asp260Asn Uncertain significance Single submitter
- CELA2B p.Gly146Ser Uncertain significance Single submitter
- CELA2B p.Gly193Asp Uncertain significance Single submitter
- CELA2B p.Gly205Ala Uncertain significance Single submitter
- CELA2B p.Gly52Asp Uncertain significance Single submitter
- CELA2B p.Ile266Thr Uncertain significance Single submitter
- CELA2B p.Ile75Thr Uncertain significance Single submitter
- CELA2B p.Ser225Cys Uncertain significance Single submitter
- CELA2B p.Ser39Cys Uncertain significance Single submitter
- CELA2B p.Ser49Thr Uncertain significance Single submitter
- CELA2B p.Ser8Tyr Uncertain significance Single submitter
- CELA2B p.Ser97Leu Uncertain significance Single submitter
- CELA2B p.Thr158Met Uncertain significance Single submitter
- CELA2B p.Val107Ala Uncertain significance Single submitter
- CELA2B p.Val131Ile Uncertain significance Single submitter
- CELA2B p.Val157Phe Uncertain significance Single submitter
- CELA2B p.Val196Met Uncertain significance Single submitter
- CELA2B p.Val208Met Uncertain significance Single submitter
- CELA2B p.Val83Leu Uncertain significance Single submitter
- CELA2B p.Val92Ile Uncertain significance Single submitter
All CELA2B variants
Benign 1
- p.His232= Multiple submitters
Likely benign 8
- p.Ala35Val Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Gln53Lys Single submitter
- p.Glu230Gln Single submitter
- p.Ile251Val Single submitter
- p.Ile80Thr Single submitter
- p.Met84Val Single submitter
- p.Pro219= Single submitter
Uncertain significance 48
- p.Ala128Thr Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala203Pro Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Asn129Lys Single submitter ⚠
- p.Asp226Val Single submitter ⚠
- p.Asp25Val Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Cys210Gly Single submitter ⚠
- p.Cys74Arg Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly159Val Single submitter ⚠
- p.Gly18Val Single submitter ⚠
- p.Gly193Asp Single submitter ⚠
- p.Gly205Ala Single submitter ⚠
- p.Gly52Asp Single submitter ⚠
- p.Gly59Arg Single submitter ⚠
- p.Gly96Ser Single submitter ⚠
- p.Ile266Thr Single submitter ⚠
- p.Ile75Thr Single submitter ⚠
- p.Leu237Pro Single submitter ⚠
- p.Leu69Pro Single submitter ⚠
- p.Met84Arg Single submitter ⚠
- p.Pro150Ser Single submitter ⚠
- p.Ser225Cys Single submitter ⚠
- p.Ser39Cys Single submitter ⚠
- p.Ser49Thr Single submitter ⚠
- p.Ser8Tyr Single submitter ⚠
- p.Ser97Leu Single submitter ⚠
- p.Thr158Met Single submitter ⚠
- p.Thr21Ala Single submitter ⚠
- p.Thr70Met Single submitter ⚠
- p.Thr9Ser Single submitter ⚠
- p.Trp54Arg Single submitter ⚠
- p.Tyr258Cys Single submitter ⚠
- p.Val100Ile Single submitter ⚠
- p.Val107Ala Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val157Phe Single submitter ⚠
- p.Val180Gly Single submitter ⚠
- p.Val196Gly Single submitter ⚠
- p.Val196Met Single submitter ⚠
- p.Val208Met Single submitter ⚠
- p.Val255Asp Single submitter ⚠
- p.Val68Asp Single submitter ⚠
- p.Val83Leu Single submitter ⚠
- p.Val92Ile Single submitter ⚠