Sugi Variant

Sugi Variant/GLIS2

GLIS2 — 351 ClinVar variants

All ClinVar germline GLIS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

1 Pathogenic · 22 Conflicting · 19 Benign · 13 Benign/Likely benign · 67 Likely benign · 229 Uncertain significance

Full GLIS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 6

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 41

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

All GLIS2 variants

Pathogenic 1

  • c.775+1G>T No assertion criteria GLIS2-related disorder

Conflicting classifications of pathogenicity 22

Benign 19

Benign/Likely benign 13

Likely benign 67

Uncertain significance 229