Sugi Variant

Sugi Variant/DHODH

DHODH — 205 ClinVar variants

All ClinVar germline DHODH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 14 Conflicting · 25 Benign · 5 Benign/Likely benign · 47 Likely benign · 99 Uncertain significance

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

⚑ Evidence disagreements 89

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 5

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

Predictors agree, ClinVar conflicts 5

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 24

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

All DHODH variants

Pathogenic 7

  • p.Leu83fs Multiple submitters postaxial acrofacial dysostosis
  • p.Gln11fs Single submitter
  • p.Glu192Ter Single submitter
  • p.Arg199Cys No assertion criteria postaxial acrofacial dysostosis ⚠
  • p.Gly202Ala No assertion criteria postaxial acrofacial dysostosis ⚠
  • p.Gly202Asp No assertion criteria postaxial acrofacial dysostosis
  • p.Leu204fs No assertion criteria postaxial acrofacial dysostosis

Pathogenic/Likely pathogenic 2

Likely pathogenic 6

Conflicting classifications of pathogenicity 14

  • c.22-11C>T Single submitter postaxial acrofacial dysostosis
  • c.518-11G>A Single submitter postaxial acrofacial dysostosis
  • p.Ala190= Single submitter postaxial acrofacial dysostosis
  • p.Ala25Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala268= Single submitter postaxial acrofacial dysostosis
  • p.Arg244Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg317Trp Single submitter postaxial acrofacial dysostosis ⚠
  • p.Asp340= Single submitter postaxial acrofacial dysostosis
  • p.Glu228Lys Single submitter postaxial acrofacial dysostosis ⚠
  • p.Gly19Glu Single submitter postaxial acrofacial dysostosis ⚠
  • p.Gly202= Single submitter postaxial acrofacial dysostosis
  • p.Gly47Glu Single submitter Inborn genetic diseases ⚠
  • p.Pro328Leu Single submitter postaxial acrofacial dysostosis ⚠
  • p.Val251= Single submitter postaxial acrofacial dysostosis

Benign 25

Benign/Likely benign 5

  • c.819+10G>A Multiple submitters postaxial acrofacial dysostosis
  • p.Ala191= Multiple submitters postaxial acrofacial dysostosis
  • p.Asp98= Multiple submitters postaxial acrofacial dysostosis
  • p.Leu153Ile Multiple submitters postaxial acrofacial dysostosis
  • p.Phe24= Multiple submitters postaxial acrofacial dysostosis

Likely benign 47

Uncertain significance 99