Sugi Variant

Sugi Variant/ZNF526

ZNF526 — 162 ClinVar variants

All ClinVar germline ZNF526 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 7 Benign · 22 Likely benign · 124 Uncertain significance

Full ZNF526 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 119

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 2

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 31

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

All ZNF526 variants

Pathogenic 3

  • p.Cys505fs No assertion criteria Dentici-Novelli neurodevelopmental syndrome
  • p.His303fs No assertion criteria Dentici-Novelli neurodevelopmental syndrome
  • p.His409Gln No assertion criteria Dentici-Novelli neurodevelopmental syndrome

Likely pathogenic 2

  • p.Lys160Thr Single submitter intellectual disability
  • p.Pro436fs Single submitter Dentici-Novelli neurodevelopmental syndrome

Conflicting classifications of pathogenicity 4

Benign 7

Likely benign 22

Uncertain significance 124