Sugi Variant

Sugi Variant/DNAAF6

DNAAF6 — 104 ClinVar variants

All ClinVar germline DNAAF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 16 Benign · 1 Benign/Likely benign · 26 Likely benign · 47 Uncertain significance

Full DNAAF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 23

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

Predictors split 18

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

All DNAAF6 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

Likely pathogenic 5

Conflicting classifications of pathogenicity 2

  • p.Glu82Lys Single submitter ciliary dyskinesia, primary, 36, X-linked ⚠
  • p.Gly97Val Single submitter ciliary dyskinesia, primary, 36, X-linked ⚠

Benign 16

Benign/Likely benign 1

  • p.Ala34= Multiple submitters ciliary dyskinesia, primary, 36, X-linked

Likely benign 26

Uncertain significance 47