Sugi Variant

Sugi Variant/BUB1

BUB1 — 1454 ClinVar variants

All ClinVar germline BUB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 943 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 18 Conflicting · 9 Benign · 6 Benign/Likely benign · 459 Likely benign · 956 Uncertain significance

Full BUB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 943

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 12

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

Predictors lean, ClinVar uncertain 678

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 678

Predictors split 252

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 252

All BUB1 variants

Pathogenic 5

  • c.2625+1G>A No assertion criteria microcephaly 30, primary, autosomal recessive
  • c.422+1G>A No assertion criteria Colorectal cancer with chromosomal instability, somatic
  • p.Ala733fs No assertion criteria microcephaly 30, primary, autosomal recessive
  • p.His1024fs No assertion criteria colon carcinoma
  • p.Ser492Tyr No assertion criteria Colorectal cancer with chromosomal instability, somatic ⚠

Likely pathogenic 1

  • p.Pro478fs Single submitter microcephaly 30, primary, autosomal recessive

Conflicting classifications of pathogenicity 18

Benign 9

Benign/Likely benign 6

Likely benign 459

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

Uncertain significance 956

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