Sugi Variant

Sugi Variant/HDAC4

HDAC4 — 745 ClinVar variants

All ClinVar germline HDAC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 284 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 32 Conflicting · 116 Benign · 36 Benign/Likely benign · 245 Likely benign · 301 Uncertain significance

Full HDAC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 284

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 1

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

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 197

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 197

Predictors split 66

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

All HDAC4 variants

Pathogenic 7

  • p.Pro248Leu Multiple submitters 2q37 microdeletion syndrome
  • c.339+1G>A Single submitter
  • p.Gln446Ter Single submitter
  • p.Glu247Lys Single submitter neurodevelopmental disorder with central hypotonia and dysmorphic facies
  • p.Gly806fs Single submitter 2q37 microdeletion syndrome
  • p.Glu247Gly No assertion criteria neurodevelopmental disorder with central hypotonia and dysmorphic facies
  • p.Pro248Ala No assertion criteria neurodevelopmental disorder with central hypotonia and dysmorphic facies

Pathogenic/Likely pathogenic 1

  • p.Thr244Lys Multiple submitters HDAC4-related disorder

Likely pathogenic 7

Conflicting classifications of pathogenicity 32

Benign 116

Benign/Likely benign 36

Likely benign 245

Uncertain significance 301

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