Sugi Variant

Sugi Variant/HSD17B10

HSD17B10 — 187 ClinVar variants

All ClinVar germline HSD17B10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 2 Benign · 2 Benign/Likely benign · 97 Likely benign · 57 Uncertain significance

Full HSD17B10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 66

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 6

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 33

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

Predictors split 21

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

All HSD17B10 variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

  • p.Arg226Gln Multiple submitters HSD10 mitochondrial disease
  • p.Lys212Glu Multiple submitters HSD10 mitochondrial disease ⚠

Likely pathogenic 10

Conflicting classifications of pathogenicity 10

Benign 2

Benign/Likely benign 2

Likely benign 97

Uncertain significance 57