Sugi Variant

Sugi Variant/HYDIN

HYDIN — 900 ClinVar variants

All ClinVar germline HYDIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 294 flagged for review →

21 Pathogenic · 4 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 26 Conflicting · 10 Benign · 11 Benign/Likely benign · 384 Likely benign · 379 Uncertain significance

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

⚑ Evidence disagreements 294

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 252

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 252

Predictors split 26

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

All HYDIN variants

Pathogenic 21

Pathogenic/Likely pathogenic 4

  • p.Arg444Ter Multiple submitters HYDIN-related disorders
  • p.Glu683Ter Multiple submitters primary ciliary dyskinesia 5
  • p.Pro1623fs Multiple submitters HYDIN-related disorders
  • p.Tyr599Ter Multiple submitters HYDIN-related disorders

Likely pathogenic 65

Conflicting classifications of pathogenicity 26

Benign 10

Benign/Likely benign 11

Likely benign 384

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

Uncertain significance 379

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