DEFB121 — 7 ClinVar variants
All ClinVar germline DEFB121 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
7 Uncertain significance
Full DEFB121 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB121 p.Ala15Thr Uncertain significance Single submitter
- DEFB121 p.Cys34Ser Uncertain significance Single submitter
- DEFB121 p.Cys51Tyr Uncertain significance Single submitter
- DEFB121 p.Gly25Asp Uncertain significance Single submitter
- DEFB121 p.Ser69Asn Uncertain significance Single submitter
- DEFB121 p.Tyr41Ser Uncertain significance Single submitter
- DEFB121 p.Val20Gly Uncertain significance Single submitter
All DEFB121 variants
Uncertain significance 7
- p.Ala15Thr Single submitter ⚠
- p.Cys34Ser Single submitter ⚠
- p.Cys51Tyr Single submitter ⚠
- p.Gly25Asp Single submitter ⚠
- p.Ser69Asn Single submitter ⚠
- p.Tyr41Ser Single submitter ⚠
- p.Val20Gly Single submitter ⚠