Sugi Variant

Sugi Variant/AQP4

AQP4 — 50 ClinVar variants

All ClinVar germline AQP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 5 Benign · 5 Likely benign · 37 Uncertain significance

Full AQP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 38

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 22

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

Predictors split 14

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

All AQP4 variants

Pathogenic 1

  • p.Ala215Thr No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 5

Likely benign 5

Uncertain significance 37