Sugi Variant

Sugi Variant/HDAC6

HDAC6 — 174 ClinVar variants

All ClinVar germline HDAC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 10 Benign · 4 Benign/Likely benign · 53 Likely benign · 99 Uncertain significance

Full HDAC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 5

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 13

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

All HDAC6 variants

Pathogenic 2

  • c.*282A>T No assertion criteria X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • p.Val69fs No assertion criteria X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Likely pathogenic 1

  • p.His632Tyr Single submitter X-linked dominant chondrodysplasia, Chassaing-Lacombe type ⚠

Conflicting classifications of pathogenicity 5

Benign 10

Benign/Likely benign 4

  • p.Glu1017= Multiple submitters
  • p.Gly1051= Multiple submitters
  • p.Ile929Thr Multiple submitters X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • p.Tyr171= Multiple submitters X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Likely benign 53

Uncertain significance 99