Sugi Variant

Sugi Variant/DHX16

DHX16 — 213 ClinVar variants

All ClinVar germline DHX16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

1 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 3 Conflicting · 10 Benign · 1 Benign/Likely benign · 11 Likely benign · 181 Uncertain significance

Full DHX16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 2

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 82

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

All DHX16 variants

Pathogenic 1

  • p.Thr674Met Multiple submitters Inborn genetic diseases

Pathogenic/Likely pathogenic 3

Likely pathogenic 3

  • p.Asp520Asn Single submitter Neurodevelopmental delay
  • p.Glu678Gly Single submitter neuromuscular disease and ocular or auditory anomalies with or without seizures
  • p.Ser17Ter Single submitter neuromuscular disease and ocular or auditory anomalies with or without seizures

Conflicting classifications of pathogenicity 3

  • p.Arg122His Single submitter Inborn genetic diseases ⚠
  • p.Arg267Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg938His Single submitter neuromuscular disease and ocular or auditory anomalies with or without seizures ⚠

Benign 10

Benign/Likely benign 1

Likely benign 11

Uncertain significance 181