Sugi Variant

Sugi Variant/OCLN

OCLN — 160 ClinVar variants

All ClinVar germline OCLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 7 Conflicting · 7 Benign · 5 Benign/Likely benign · 35 Likely benign · 84 Uncertain significance

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

⚑ Evidence disagreements 78

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 3

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 19

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

All OCLN variants

Pathogenic 11

Pathogenic/Likely pathogenic 1

  • c.1037+1G>A Multiple submitters pseudo-TORCH syndrome 1

Likely pathogenic 10

Conflicting classifications of pathogenicity 7

Benign 7

Benign/Likely benign 5

Likely benign 35

Uncertain significance 84