Sugi Variant

Sugi Variant/HS6ST2

HS6ST2 — 113 ClinVar variants

All ClinVar germline HS6ST2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 5 Benign · 1 Benign/Likely benign · 19 Likely benign · 83 Uncertain significance

Full HS6ST2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 2

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 11

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

All HS6ST2 variants

Pathogenic 1

Likely pathogenic 1

  • p.Gly243fs Single submitter Paganini-Miozzo syndrome

Conflicting classifications of pathogenicity 3

Benign 5

Benign/Likely benign 1

  • p.Ala325= Multiple submitters Paganini-Miozzo syndrome

Likely benign 19

Uncertain significance 83