Sugi Variant

Sugi Variant/HEXA

HEXA — 1244 ClinVar variants

All ClinVar germline HEXA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 379 flagged for review →

115 Pathogenic · 74 Pathogenic/Likely pathogenic · 115 Likely pathogenic · 34 Conflicting · 24 Benign · 8 Benign/Likely benign · 446 Likely benign · 428 Uncertain significance

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

⚑ Evidence disagreements 379

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 4

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 277

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 277

Predictors split 82

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

All HEXA variants

Pathogenic 115

Pathogenic/Likely pathogenic 74

Likely pathogenic 115

Conflicting classifications of pathogenicity 34

Benign 24

Benign/Likely benign 8

  • c.1146+8G>A Multiple submitters Tay-Sachs disease
  • c.672+30T>G Multiple submitters Tay-Sachs disease
  • c.-4G>A Multiple submitters Tay-Sachs disease
  • p.Ala479Thr Multiple submitters Tay-Sachs disease
  • p.Asn399Asp Multiple submitters Tay-Sachs disease
  • p.Glu506= Multiple submitters Tay-Sachs disease
  • p.Ser3= Multiple submitters Tay-Sachs disease
  • p.Val253= Multiple submitters Inborn genetic diseases

Likely benign 446

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

Uncertain significance 428

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