Sugi Variant

Sugi Variant/DHX34

DHX34 — 309 ClinVar variants

All ClinVar germline DHX34 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 29 Benign · 2 Benign/Likely benign · 24 Likely benign · 250 Uncertain significance

Full DHX34 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 114

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

Predictors split 145

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

All DHX34 variants

Pathogenic 1

  • p.Arg776Pro Single submitter neurodevelopmental disorder

Likely pathogenic 2

  • p.Asn441Ser No assertion criteria intellectual disability ⚠
  • p.Gln156Ter No assertion criteria Neurodevelopmental disorders

Conflicting classifications of pathogenicity 1

Benign 29

Benign/Likely benign 2

Likely benign 24

Uncertain significance 250