Sugi Variant

Sugi Variant/DNAH9

DNAH9 — 2491 ClinVar variants

All ClinVar germline DNAH9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 749 flagged for review →

87 Pathogenic · 11 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 52 Conflicting · 233 Benign · 24 Benign/Likely benign · 872 Likely benign · 1149 Uncertain significance

Full DNAH9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 749

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 36

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

Predictors lean, ClinVar uncertain 657

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 657

Predictors split 56

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

All DNAH9 variants

Pathogenic 87

Pathogenic/Likely pathogenic 11

  • p.Arg1344Ter Multiple submitters ciliary dyskinesia, primary, 40
  • p.Arg1517Ter Multiple submitters ciliary dyskinesia, primary, 40
  • p.Arg24Ter Multiple submitters ciliary dyskinesia, primary, 40
  • p.Arg2947Ter Multiple submitters ciliary dyskinesia, primary, 40
  • p.Arg4065Ter Multiple submitters DNAH9-related disorder
  • p.Asp3732fs Multiple submitters
  • p.Glu2765fs Multiple submitters ciliary dyskinesia, primary, 40
  • p.Leu578fs Multiple submitters ciliary dyskinesia, primary, 40
  • p.Phe103fs Multiple submitters ciliary dyskinesia, primary, 40
  • p.Trp2201Ter Multiple submitters ciliary dyskinesia, primary, 40
  • p.Tyr4107fs Multiple submitters ciliary dyskinesia, primary, 40

Likely pathogenic 63

Conflicting classifications of pathogenicity 52

Benign 233

Benign/Likely benign 24

Likely benign 872

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1149

Showing the top 300 by review status; the full set is in the sitemap.