CELA3B — 60 ClinVar variants
All ClinVar germline CELA3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
4 Benign · 8 Likely benign · 48 Uncertain significance
Full CELA3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELA3B p.Arg210Cys Uncertain significance Single submitter
- CELA3B p.Arg28Pro Uncertain significance Single submitter
- CELA3B p.Arg4Gln Uncertain significance Single submitter
- CELA3B p.Arg4Gly Uncertain significance Single submitter
- CELA3B p.Cys244Tyr Uncertain significance Single submitter
- CELA3B p.Glu186Lys Uncertain significance Single submitter
- CELA3B p.Glu264Gln Uncertain significance Single submitter
- CELA3B p.Glu87Lys Uncertain significance Single submitter
- CELA3B p.Glu87Val Uncertain significance Single submitter
- CELA3B p.Gly169Arg Uncertain significance Single submitter
- CELA3B p.Gly72Ser Uncertain significance Single submitter
- CELA3B p.Ile100Thr Uncertain significance Single submitter
- CELA3B p.Ile260Thr Uncertain significance Single submitter
- CELA3B p.Lys199Arg Uncertain significance Single submitter
- CELA3B p.Lys249Glu Uncertain significance Single submitter
- CELA3B p.Ser16Ala Uncertain significance Single submitter
- CELA3B p.Thr236Pro Uncertain significance Single submitter
- CELA3B p.Trp193Arg Uncertain significance Single submitter
- CELA3B p.Val203Met Uncertain significance Single submitter
- CELA3B p.Val235Met Uncertain significance Single submitter
- CELA3B p.Val239Phe Uncertain significance Single submitter
- CELA3B p.Arg90Cys Uncertain significance No assertion criteria
Predictors split 31
The independent predictors disagree with each other — read with care.
- CELA3B p.Arg131Cys Benign Multiple submitters
- CELA3B p.Ala268Thr Uncertain significance Single submitter
- CELA3B p.Ala64Thr Uncertain significance Single submitter
- CELA3B p.Arg90His Uncertain significance Single submitter
- CELA3B p.Asn122Asp Uncertain significance Single submitter
- CELA3B p.Asn31His Likely benign Single submitter
- CELA3B p.Asn31Ser Uncertain significance Single submitter
- CELA3B p.Asp106Glu Uncertain significance Single submitter
- CELA3B p.Asp106Tyr Uncertain significance Single submitter
- CELA3B p.Asp208Tyr Uncertain significance Single submitter
- CELA3B p.Asp261Asn Uncertain significance Single submitter
- CELA3B p.Asp261Glu Uncertain significance Single submitter
- CELA3B p.Asp34Asn Uncertain significance Single submitter
- CELA3B p.Asp89His Uncertain significance Single submitter
- CELA3B p.Cys120Ser Uncertain significance Single submitter
- CELA3B p.Gly105Trp Uncertain significance Single submitter
- CELA3B p.Gly95Asp Uncertain significance Single submitter
- CELA3B p.Ile127Met Uncertain significance Single submitter
- CELA3B p.Leu11Phe Likely benign Single submitter
- CELA3B p.Leu3Pro Uncertain significance Single submitter
- CELA3B p.Pro101Arg Uncertain significance Single submitter
- CELA3B p.Ser116Leu Likely benign Single submitter
- CELA3B p.Ser132Arg Uncertain significance Single submitter
- CELA3B p.Ser269Arg Uncertain significance Single submitter
- CELA3B p.Thr57Ile Uncertain significance Single submitter
- CELA3B p.Thr80Asn Uncertain significance Single submitter
- CELA3B p.Thr80Ile Uncertain significance Single submitter
- CELA3B p.Val109Glu Uncertain significance Single submitter
- CELA3B p.Val139Ile Likely benign Single submitter
- CELA3B p.Val182Met Uncertain significance Single submitter
- CELA3B p.Val84Leu Uncertain significance Single submitter
All CELA3B variants
Benign 4
- p.Arg131Cys Multiple submitters ⚠
- p.Ile63= Multiple submitters
- p.Asp137= Single submitter
- p.Asp173= Single submitter
Likely benign 8
- c.129+1G>A Single submitter
- p.Asn31His Single submitter ⚠
- p.Gly105Glu Single submitter
- p.Gly234= Single submitter
- p.Ile267Val Single submitter
- p.Leu11Phe Single submitter ⚠
- p.Ser116Leu Single submitter ⚠
- p.Val139Ile Single submitter ⚠
Uncertain significance 48
- p.Ala268Thr Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Asn122Asp Single submitter ⚠
- p.Asn31Ser Single submitter ⚠
- p.Asp106Glu Single submitter ⚠
- p.Asp106Tyr Single submitter ⚠
- p.Asp208Tyr Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp261Glu Single submitter ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp89His Single submitter ⚠
- p.Cys120Ser Single submitter ⚠
- p.Cys244Tyr Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Glu264Gln Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Glu87Val Single submitter ⚠
- p.Gly105Trp Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly72Ser Single submitter ⚠
- p.Gly95Asp Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile127Met Single submitter ⚠
- p.Ile260Thr Single submitter ⚠
- p.Leu3Pro Single submitter ⚠
- p.Lys199Arg Single submitter ⚠
- p.Lys249Glu Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Ser132Arg Single submitter ⚠
- p.Ser16Ala Single submitter ⚠
- p.Ser269Arg Single submitter ⚠
- p.Thr236Pro Single submitter ⚠
- p.Thr57Ile Single submitter ⚠
- p.Thr80Asn Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Trp193Arg Single submitter ⚠
- p.Val109Glu Single submitter ⚠
- p.Val182Met Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val235Met Single submitter ⚠
- p.Val239Phe Single submitter ⚠
- p.Val84Leu Single submitter ⚠
- p.Arg90Cys No assertion criteria ⚠