Sugi Variant

Sugi Variant/AEBP1

AEBP1 — 781 ClinVar variants

All ClinVar germline AEBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

27 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 14 Conflicting · 28 Benign · 32 Benign/Likely benign · 354 Likely benign · 305 Uncertain significance

Full AEBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 9

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

Predictors lean, ClinVar uncertain 203

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 203

Predictors split 51

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

All AEBP1 variants

Pathogenic 27

Pathogenic/Likely pathogenic 6

  • p.Cys581Ter Multiple submitters Ehlers-Danlos syndrome, classic-like, 2
  • p.Gln781Ter Multiple submitters
  • p.Glu219fs Multiple submitters
  • p.Ser188fs Multiple submitters AEBP1-related disorder
  • p.Tyr244fs Multiple submitters Ehlers-Danlos syndrome, classic-like, 2
  • p.Tyr428Ter Multiple submitters Ehlers-Danlos syndrome, classic-like, 2

Likely pathogenic 15

Conflicting classifications of pathogenicity 14

Benign 28

Benign/Likely benign 32

Likely benign 354

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

Uncertain significance 305

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