Sugi Variant

Sugi Variant/YAP1

YAP1 — 134 ClinVar variants

All ClinVar germline YAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 12 Benign · 2 Benign/Likely benign · 35 Likely benign · 76 Uncertain significance

Full YAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 45

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 YAP1 variants

Pathogenic 4

  • p.Arg394Ter Single submitter Structural eye disease
  • p.Met86Thr Single submitter uveal coloboma-cleft lip and palate-intellectual disability ⚠
  • p.Arg124Ter No assertion criteria coloboma
  • p.Glu356Ter No assertion criteria uveal coloboma-cleft lip and palate-intellectual disability

Likely pathogenic 3

  • p.Asp399fs Single submitter uveal coloboma-cleft lip and palate-intellectual disability
  • p.Ser229Ter Single submitter uveal coloboma-cleft lip and palate-intellectual disability
  • p.Ser163Cys No assertion criteria plasma cell myeloma ⚠

Conflicting classifications of pathogenicity 2

Benign 12

Benign/Likely benign 2

Likely benign 35

Uncertain significance 76