Sugi Variant

Sugi Variant/HEXB

HEXB — 875 ClinVar variants

All ClinVar germline HEXB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

78 Pathogenic · 36 Pathogenic/Likely pathogenic · 89 Likely pathogenic · 30 Conflicting · 41 Benign · 6 Benign/Likely benign · 361 Likely benign · 234 Uncertain significance

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

⚑ Evidence disagreements 199

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 2

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 151

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151

Predictors split 31

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

All HEXB variants

Pathogenic 78

Pathogenic/Likely pathogenic 36

Likely pathogenic 89

Conflicting classifications of pathogenicity 30

Benign 41

Benign/Likely benign 6

Likely benign 361

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 234