Sugi Variant

Sugi Variant/HAAO

HAAO — 85 ClinVar variants

All ClinVar germline HAAO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Conflicting · 7 Benign · 18 Likely benign · 46 Uncertain significance

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

⚑ Evidence disagreements 42

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 33

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

Predictors split 8

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

All HAAO variants

Pathogenic 4

  • p.Asp162Ter Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Trp186Ter Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Arg15fs No assertion criteria Congenital NAD deficiency disorder
  • p.His47Gln No assertion criteria Congenital NAD deficiency disorder

Pathogenic/Likely pathogenic 1

  • p.Phe128fs Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1

Likely pathogenic 7

  • c.80+2T>C Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • c.243+1G>A Single submitter vertebral, cardiac, renal, and limb defects syndrome 1
  • c.630+2T>A Single submitter vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Arg108Gln Single submitter vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Arg8fs Single submitter vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Gly101Trp Single submitter vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Leu84Pro Single submitter vertebral, cardiac, renal, and limb defects syndrome 1

Conflicting classifications of pathogenicity 2

  • p.Arg43Lys Single submitter vertebral, cardiac, renal, and limb defects syndrome 1 ⚠
  • p.Asp227= Single submitter

Benign 7

  • c.440+19C>T Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • c.630+34C>T Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • c.81-10C>T Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Ile37Val Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Thr42Ser Multiple submitters vertebral, cardiac, renal, and limb defects syndrome 1
  • p.Ile37= No assertion criteria HAAO-related disorder
  • p.Ile48= No assertion criteria HAAO-related disorder

Likely benign 18

Uncertain significance 46