Sugi Variant

Sugi Variant/CREB3L1

CREB3L1 — 349 ClinVar variants

All ClinVar germline CREB3L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

9 Pathogenic · 6 Likely pathogenic · 5 Conflicting · 31 Benign · 7 Benign/Likely benign · 143 Likely benign · 148 Uncertain significance

Full CREB3L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 3

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 42

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

All CREB3L1 variants

Pathogenic 9

Likely pathogenic 6

  • c.1259-7_1267del Single submitter osteogenesis imperfecta type 16
  • c.595+2T>A Single submitter osteogenesis imperfecta type 16
  • c.753+1G>A Single submitter
  • p.Gln348Ter Single submitter osteogenesis imperfecta type 16
  • p.Phe30fs Single submitter osteogenesis imperfecta type 16
  • p.Pro259fs Single submitter osteogenesis imperfecta type 16

Conflicting classifications of pathogenicity 5

Benign 31

Benign/Likely benign 7

Likely benign 143

Uncertain significance 148