Sugi Variant

Sugi Variant/POU6F2

POU6F2 — 159 ClinVar variants

All ClinVar germline POU6F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

2 Pathogenic · 4 Conflicting · 10 Benign · 1 Benign/Likely benign · 29 Likely benign · 113 Uncertain significance

Full POU6F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 104

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 79

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 POU6F2 variants

Pathogenic 2

Conflicting classifications of pathogenicity 4

Benign 10

Benign/Likely benign 1

Likely benign 29

Uncertain significance 113