Sugi Variant

Sugi Variant/BMPR1B

BMPR1B — 428 ClinVar variants

All ClinVar germline BMPR1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

11 Pathogenic · 10 Likely pathogenic · 17 Conflicting · 62 Benign · 12 Benign/Likely benign · 103 Likely benign · 213 Uncertain significance

Full BMPR1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 112

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

Predictors split 40

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

All BMPR1B variants

Pathogenic 11

  • p.Arg486Trp Multiple submitters acromesomelic dysplasia 3
  • c.247-2A>G Single submitter acromesomelic dysplasia 3
  • p.Arg371Ter Single submitter acromesomelic dysplasia 3
  • p.Cys135fs Single submitter brachydactyly type A2
  • c.447-1G>A No assertion criteria brachydactyly type A1D
  • p.Arg214Ser No assertion criteria acromesomelic dysplasia 2B
  • p.Arg31Cys No assertion criteria acromesomelic dysplasia 3 ⚠
  • p.Cys53Arg No assertion criteria acromesomelic dysplasia 3
  • p.Gly121fs No assertion criteria acromesomelic dysplasia 3
  • p.Lys325Asn No assertion criteria brachydactyly type A1D
  • p.Trp219Ter No assertion criteria acromesomelic dysplasia 3

Likely pathogenic 10

Conflicting classifications of pathogenicity 17

Benign 62

Benign/Likely benign 12

Likely benign 103

Uncertain significance 213