Sugi Variant

Sugi Variant/BMPER

BMPER — 425 ClinVar variants

All ClinVar germline BMPER variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 17 Conflicting · 54 Benign · 4 Benign/Likely benign · 125 Likely benign · 205 Uncertain significance

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

⚑ Evidence disagreements 165

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 4

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

Predictors lean, ClinVar uncertain 99

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

Predictors split 61

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

All BMPER variants

Pathogenic 13

Pathogenic/Likely pathogenic 1

  • p.Val137Asp No assertion criteria diaphanospondylodysostosis

Likely pathogenic 6

Conflicting classifications of pathogenicity 17

Benign 54

Benign/Likely benign 4

  • p.Arg555Trp Multiple submitters diaphanospondylodysostosis ⚠
  • p.Cys599= Multiple submitters diaphanospondylodysostosis
  • p.Thr139= Multiple submitters diaphanospondylodysostosis
  • p.Val363Ile Multiple submitters diaphanospondylodysostosis

Likely benign 125

Uncertain significance 205