Sugi Variant

Sugi Variant/COX7B

COX7B — 38 ClinVar variants

All ClinVar germline COX7B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 3 Benign · 17 Likely benign · 11 Uncertain significance

Full COX7B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 1

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

Predictors lean, ClinVar uncertain 4

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

Predictors split 11

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

All COX7B variants

Pathogenic 3

  • c.41-2A>G No assertion criteria linear skin defects with multiple congenital anomalies 2
  • p.Gln19Ter No assertion criteria linear skin defects with multiple congenital anomalies 2
  • p.Leu66fs No assertion criteria linear skin defects with multiple congenital anomalies 2

Likely pathogenic 1

Conflicting classifications of pathogenicity 3

Benign 3

Likely benign 17

Uncertain significance 11