Sugi Variant

Sugi Variant/ZNF462

ZNF462 — 752 ClinVar variants

All ClinVar germline ZNF462 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 434 flagged for review →

54 Pathogenic · 5 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 12 Conflicting · 15 Benign · 12 Benign/Likely benign · 174 Likely benign · 451 Uncertain significance

Full ZNF462 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 434

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 10

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

Predictors lean, ClinVar uncertain 288

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 288

Predictors split 134

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

All ZNF462 variants

Pathogenic 54

Pathogenic/Likely pathogenic 5

  • p.Arg1537Ter Multiple submitters Inborn genetic diseases
  • p.Asp646fs Multiple submitters Weiss-Kruszka syndrome
  • p.Gln1103fs Multiple submitters Inborn genetic diseases
  • p.Gln1947fs Multiple submitters ZNF462-related disorder
  • p.Gln1992Ter Multiple submitters ZNF462-related disorder

Likely pathogenic 29

Conflicting classifications of pathogenicity 12

Benign 15

Benign/Likely benign 12

Likely benign 174

Uncertain significance 451

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