Sugi Variant

Sugi Variant/UNC119

UNC119 — 206 ClinVar variants

All ClinVar germline UNC119 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

1 Pathogenic/Likely pathogenic · 7 Conflicting · 7 Benign · 5 Benign/Likely benign · 64 Likely benign · 122 Uncertain significance

Full UNC119 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 4

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 5

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

All UNC119 variants

Pathogenic/Likely pathogenic 1

Conflicting classifications of pathogenicity 7

Benign 7

Benign/Likely benign 5

  • c.437+7C>T Multiple submitters cone-rod dystrophy
  • c.*1C>T Multiple submitters idiopathic CD4 lymphocytopenia
  • p.Arg119Gln Multiple submitters cone-rod dystrophy
  • p.Phe221= Multiple submitters cone-rod dystrophy
  • p.Val89= Multiple submitters cone-rod dystrophy

Likely benign 64

Uncertain significance 122