DEFB119 — 24 ClinVar variants
All ClinVar germline DEFB119 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
2 Likely benign · 22 Uncertain significance
Full DEFB119 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB119 p.Ala37Thr Uncertain significance Single submitter
- DEFB119 p.Arg62Lys Uncertain significance Single submitter
- DEFB119 p.Arg62Thr Uncertain significance Single submitter
- DEFB119 p.Asp73Asn Uncertain significance Single submitter
- DEFB119 p.Cys28Tyr Uncertain significance Single submitter
- DEFB119 p.Glu43Gly Uncertain significance Single submitter
- DEFB119 p.Glu43Lys Uncertain significance Single submitter
- DEFB119 p.His24Leu Uncertain significance Single submitter
- DEFB119 p.Ile63Val Uncertain significance Single submitter
- DEFB119 p.Leu47Arg Uncertain significance Single submitter
- DEFB119 p.Phe7Leu Uncertain significance Single submitter
- DEFB119 p.Ser54Phe Uncertain significance Single submitter
- DEFB119 p.Trp74Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB119 variants
Likely benign 2
- c.61+1379C>T Single submitter
- p.Lys40Arg Single submitter
Uncertain significance 22
- c.61+1219C>T Single submitter
- c.61+1255C>T Single submitter
- c.61+1262G>A Single submitter
- c.61+1264A>G Single submitter
- c.61+1268G>A Single submitter
- c.61+1274G>A Single submitter
- c.61+1291C>T Single submitter
- p.Ala37Thr Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg62Lys Single submitter ⚠
- p.Arg62Thr Single submitter ⚠
- p.Asp73Asn Single submitter ⚠
- p.Cys28Tyr Single submitter ⚠
- p.Glu43Gly Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.His24Leu Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu47Arg Single submitter ⚠
- p.Phe7Leu Single submitter ⚠
- p.Ser54Phe Single submitter ⚠
- p.Trp74Ser Single submitter ⚠
- p.Tyr76Cys Single submitter ⚠