CELA1 — 40 ClinVar variants
All ClinVar germline CELA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
2 Benign · 4 Likely benign · 34 Uncertain significance
Full CELA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELA1 p.Ala113Thr Uncertain significance Single submitter
- CELA1 p.Ala174Val Uncertain significance Single submitter
- CELA1 p.Asn215Asp Uncertain significance Single submitter
- CELA1 p.Asp205Asn Uncertain significance Single submitter
- CELA1 p.Asp66Asn Uncertain significance Single submitter
- CELA1 p.Gln68Arg Uncertain significance Single submitter
- CELA1 p.Glu135Lys Uncertain significance Single submitter
- CELA1 p.Gly157Arg Uncertain significance Single submitter
- CELA1 p.Gly76Arg Uncertain significance Single submitter
- CELA1 p.His98Pro Uncertain significance Single submitter
- CELA1 p.Ile175Val Uncertain significance Single submitter
- CELA1 p.Ile248Asn Uncertain significance Single submitter
- CELA1 p.Lys69Asn Uncertain significance Single submitter
- CELA1 p.Pro169Thr Uncertain significance Single submitter
- CELA1 p.Ser200Cys Uncertain significance Single submitter
- CELA1 p.Thr155Ile Uncertain significance Single submitter
- CELA1 p.Thr239Ala Uncertain significance Single submitter
- CELA1 p.Tyr100His Uncertain significance Single submitter
- CELA1 p.Tyr218Asn Uncertain significance Single submitter
- CELA1 p.Val19Ala Uncertain significance Single submitter
- CELA1 p.Val19Ile Uncertain significance Single submitter
- CELA1 p.Val73Met Uncertain significance Single submitter
- CELA1 p.Val90Met Uncertain significance Single submitter
- CELA1 p.Val92Ala Uncertain significance Single submitter
- CELA1 p.Val96Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CELA1 p.Arg72His Uncertain significance Single submitter
- CELA1 p.His221Arg Uncertain significance Single submitter
- CELA1 p.Leu210Ile Uncertain significance Single submitter
- CELA1 p.Met190Val Uncertain significance Single submitter
- CELA1 p.Thr148Ile Uncertain significance Single submitter
- CELA1 p.Thr51Asn Uncertain significance Single submitter
- CELA1 p.Tyr89His Uncertain significance Single submitter
- CELA1 p.Val106Met Uncertain significance Single submitter
- CELA1 p.Val244Ile Uncertain significance Single submitter
All CELA1 variants
Likely benign 4
- p.Ala137Thr Single submitter
- p.Arg199His Single submitter
- p.Asp104Asn Single submitter
- p.Arg230= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 34
- p.Ala113Thr Single submitter ⚠
- p.Ala174Val Single submitter ⚠
- p.Arg72His Single submitter ⚠
- p.Asn215Asp Single submitter ⚠
- p.Asp205Asn Single submitter ⚠
- p.Asp66Asn Single submitter ⚠
- p.Gln68Arg Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Gly157Arg Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His221Arg Single submitter ⚠
- p.His98Pro Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile248Asn Single submitter ⚠
- p.Leu210Ile Single submitter ⚠
- p.Lys69Asn Single submitter ⚠
- p.Met190Val Single submitter ⚠
- p.Pro169Thr Single submitter ⚠
- p.Ser200Cys Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr239Ala Single submitter ⚠
- p.Thr51Asn Single submitter ⚠
- p.Tyr100His Single submitter ⚠
- p.Tyr218Asn Single submitter ⚠
- p.Tyr89His Single submitter ⚠
- p.Val106Met Single submitter ⚠
- p.Val19Ala Single submitter ⚠
- p.Val19Ile Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val73Met Single submitter ⚠
- p.Val90Met Single submitter ⚠
- p.Val92Ala Single submitter ⚠
- p.Val96Met Single submitter ⚠