Sugi Variant

Sugi Variant/DEAF1

DEAF1 — 992 ClinVar variants

All ClinVar germline DEAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 427 flagged for review →

46 Pathogenic · 12 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 47 Conflicting · 21 Benign · 13 Benign/Likely benign · 319 Likely benign · 491 Uncertain significance

Full DEAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 427

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 32

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

Predictors lean, ClinVar uncertain 310

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 310

Predictors split 83

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

All DEAF1 variants

Pathogenic 46

Pathogenic/Likely pathogenic 12

  • p.Arg224Pro Multiple submitters intellectual disability, autosomal dominant 24
  • p.Arg224Trp Multiple submitters DEAF1-related disorder
  • p.Arg226Trp Multiple submitters Inborn genetic diseases
  • p.Arg246Thr Multiple submitters intellectual disability, autosomal dominant 24
  • p.Arg261Ter Multiple submitters
  • p.Arg484Ter Multiple submitters
  • p.Gln185Ter Multiple submitters
  • p.Gly212Ser Multiple submitters Neurodevelopmental delay
  • p.Leu13fs Multiple submitters intellectual disability-epilepsy-extrapyramidal syndrome
  • p.Leu309fs Multiple submitters DEAF1-related disorder
  • p.Lys250Glu Multiple submitters intellectual disability, autosomal dominant 24
  • p.Trp234Gly Multiple submitters

Likely pathogenic 43

Conflicting classifications of pathogenicity 47

Benign 21

Benign/Likely benign 13

Likely benign 319

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

Uncertain significance 491

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