Sugi Variant

Sugi Variant/DHX9

DHX9 — 158 ClinVar variants

All ClinVar germline DHX9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 15 Likely benign · 121 Uncertain significance

Full DHX9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 lean, ClinVar uncertain 54

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

Predictors split 58

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

All DHX9 variants

Pathogenic 10

  • c.1557+1G>A Single submitter
  • p.Arg1052Ter Single submitter Inborn genetic diseases
  • p.Arg764Ter Single submitter Inborn genetic diseases
  • p.Arg767Ter Single submitter Inborn genetic diseases
  • p.Gln626Ter Single submitter DHX9-associated neurodevelopmental disorder
  • p.Glu1129Ter Single submitter Inborn genetic diseases
  • p.Leu378fs Single submitter
  • p.Tyr568Ter Single submitter Inborn genetic diseases
  • p.Arg1166Pro No assertion criteria intellectual developmental disorder, autosomal dominant 75
  • p.Arg229Ter No assertion criteria intellectual developmental disorder, autosomal dominant 75

Pathogenic/Likely pathogenic 1

  • p.Gly414Arg No assertion criteria intellectual developmental disorder, autosomal dominant 75

Likely pathogenic 6

Conflicting classifications of pathogenicity 1

Benign 3

Benign/Likely benign 1

Likely benign 15

Uncertain significance 121