Sugi Variant

Sugi Variant/PYROXD1

PYROXD1 — 411 ClinVar variants

All ClinVar germline PYROXD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

12 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 4 Conflicting · 74 Benign · 4 Benign/Likely benign · 140 Likely benign · 162 Uncertain significance

Full PYROXD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 4

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 35

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

All PYROXD1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 3

  • c.285+1G>A Multiple submitters PYROXD1-related disorder
  • p.Cys111fs Multiple submitters myofibrillar myopathy 8
  • p.Val298fs Multiple submitters myofibrillar myopathy 8

Likely pathogenic 12

Conflicting classifications of pathogenicity 4

Benign 74

Benign/Likely benign 4

Likely benign 140

Uncertain significance 162