Sugi Variant

Sugi Variant/DTNBP1

DTNBP1 — 353 ClinVar variants

All ClinVar germline DTNBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 13 Conflicting · 24 Benign · 19 Benign/Likely benign · 147 Likely benign · 136 Uncertain significance

Full DTNBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 2

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

Predictors lean, ClinVar uncertain 88

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

Predictors split 20

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

All DTNBP1 variants

Pathogenic 4

Pathogenic/Likely pathogenic 3

  • p.Arg222Ter Multiple submitters DTNBP1-related disorder
  • p.Met150fs Multiple submitters Hermansky-Pudlak syndrome
  • p.Ser27fs Multiple submitters DTNBP1-related disorders

Likely pathogenic 7

Conflicting classifications of pathogenicity 13

Benign 24

Benign/Likely benign 19

Likely benign 147

Uncertain significance 136