Sugi Variant

Sugi Variant/AP3D1

AP3D1 — 1463 ClinVar variants

All ClinVar germline AP3D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 531 flagged for review →

1 Pathogenic · 20 Conflicting · 110 Benign · 17 Benign/Likely benign · 656 Likely benign · 659 Uncertain significance

Full AP3D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 531

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 agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 270

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 270

Predictors split 254

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 254

All AP3D1 variants

Pathogenic 1

  • p.Val1189fs No assertion criteria Hermansky-Pudlak syndrome 10

Conflicting classifications of pathogenicity 20

Benign 110

Benign/Likely benign 17

Likely benign 656

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 659

Showing the top 300 by review status; the full set is in the sitemap.