Sugi Variant

Sugi Variant/DIABLO

DIABLO — 155 ClinVar variants

All ClinVar germline DIABLO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

3 Likely pathogenic · 12 Conflicting · 21 Benign · 5 Benign/Likely benign · 41 Likely benign · 73 Uncertain significance

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

⚑ Evidence disagreements 72

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 8

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 23

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

All DIABLO variants

Likely pathogenic 3

  • p.Asp83fs Single submitter autosomal dominant nonsyndromic hearing loss 64
  • p.Glu129del Single submitter autosomal dominant nonsyndromic hearing loss 64
  • p.Ter240Arg Single submitter autosomal dominant nonsyndromic hearing loss 64

Conflicting classifications of pathogenicity 12

Benign 21

Benign/Likely benign 5

Likely benign 41

Uncertain significance 73