Sugi Variant

Sugi Variant/HSPA9

HSPA9 — 135 ClinVar variants

All ClinVar germline HSPA9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 5 Benign · 3 Benign/Likely benign · 38 Likely benign · 79 Uncertain significance

Full HSPA9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 55

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

Predictors split 16

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

All HSPA9 variants

Pathogenic 4

Likely pathogenic 2

Conflicting classifications of pathogenicity 4

Benign 5

Benign/Likely benign 3

  • p.Ala7= Multiple submitters autosomal dominant sideroblastic anemia
  • p.His26Tyr Multiple submitters
  • p.Ser627= Multiple submitters

Likely benign 38

Uncertain significance 79