Sugi Variant

Sugi Variant/USP18

USP18 — 92 ClinVar variants

All ClinVar germline USP18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 6 Benign · 5 Benign/Likely benign · 25 Likely benign · 49 Uncertain significance

Full USP18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 43

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 USP18 variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

  • c.1073+1G>A No assertion criteria pseudo-TORCH syndrome 2

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

Benign 6

Benign/Likely benign 5

Likely benign 25

Uncertain significance 49