Sugi Variant

Sugi Variant/HHAT

HHAT — 171 ClinVar variants

All ClinVar germline HHAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 18 Benign · 2 Benign/Likely benign · 45 Likely benign · 97 Uncertain significance

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

⚑ Evidence disagreements 92

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 22

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

All HHAT variants

Pathogenic 6

Likely pathogenic 2

  • p.Met1Leu Single submitter Inborn genetic diseases
  • p.Trp73Ter No assertion criteria chondrodysplasia-pseudohermaphroditism syndrome

Conflicting classifications of pathogenicity 1

Benign 18

Benign/Likely benign 2

  • p.Gly333Arg Multiple submitters chondrodysplasia-pseudohermaphroditism syndrome
  • p.Leu394= Multiple submitters

Likely benign 45

Uncertain significance 97