Sugi Variant

Sugi Variant/APOA4

APOA4 — 186 ClinVar variants

All ClinVar germline APOA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

2 Pathogenic · 3 Conflicting · 26 Benign · 2 Benign/Likely benign · 38 Likely benign · 115 Uncertain significance

Full APOA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 36

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 87

The independent predictors disagree with each other — read with care.

All APOA4 variants

Pathogenic 2

  • p.Asp33Asn No assertion criteria tubulointerstitial kidney disease, autosomal dominant 6 ⚠
  • p.Leu66Val No assertion criteria tubulointerstitial kidney disease, autosomal dominant 6 ⚠

Conflicting classifications of pathogenicity 3

Benign 26

Benign/Likely benign 2

Likely benign 38

Uncertain significance 115