Sugi Variant

Sugi Variant/YY1

YY1 — 179 ClinVar variants

All ClinVar germline YY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

20 Pathogenic · 2 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 7 Conflicting · 1 Benign · 1 Benign/Likely benign · 42 Likely benign · 82 Uncertain significance

Full YY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 3

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 18

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

All YY1 variants

Pathogenic 20

Pathogenic/Likely pathogenic 2

  • p.Arg375Gln Multiple submitters Gabriele de Vries syndrome
  • p.Asn369Ser Multiple submitters intellectual disability

Likely pathogenic 24

Conflicting classifications of pathogenicity 7

Benign 1

Benign/Likely benign 1

Likely benign 42

Uncertain significance 82