Sugi Variant

Sugi Variant/YY1AP1

YY1AP1 — 214 ClinVar variants

All ClinVar germline YY1AP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 3 Conflicting · 11 Benign · 3 Benign/Likely benign · 39 Likely benign · 143 Uncertain significance

Full YY1AP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 lean, ClinVar uncertain 101

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

Predictors split 15

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

All YY1AP1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Gln84Ter Multiple submitters YY1AP1-related disorder

Likely pathogenic 7

Conflicting classifications of pathogenicity 3

Benign 11

Benign/Likely benign 3

Likely benign 39

Uncertain significance 143