DEFB105A — 6 ClinVar variants
All ClinVar germline DEFB105A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
2 Likely benign · 4 Uncertain significance
Full DEFB105A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB105A variants
Likely benign 2
- p.Ile4Asn Single submitter ⚠
- p.Pro34Ser Single submitter
Uncertain significance 4
- c.200G>T Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Leu29Phe Single submitter ⚠
- p.Ser37Leu Single submitter ⚠