Sugi Variant

Sugi Variant/UBR1

UBR1 — 1129 ClinVar variants

All ClinVar germline UBR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

33 Pathogenic · 2 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 27 Conflicting · 68 Benign · 23 Benign/Likely benign · 714 Likely benign · 229 Uncertain significance

Full UBR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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 19

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

Predictors lean, ClinVar uncertain 185

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 185

Predictors split 37

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

All UBR1 variants

Pathogenic 33

Pathogenic/Likely pathogenic 2

  • c.529-13G>A Multiple submitters Johanson-Blizzard syndrome
  • p.Arg1019Ter Multiple submitters Johanson-Blizzard syndrome

Likely pathogenic 33

Conflicting classifications of pathogenicity 27

Benign 68

Benign/Likely benign 23

Likely benign 714

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 229