Sugi Variant

Sugi Variant/COLGALT1

COLGALT1 — 317 ClinVar variants

All ClinVar germline COLGALT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 6 Conflicting · 11 Benign · 6 Benign/Likely benign · 95 Likely benign · 192 Uncertain significance

Full COLGALT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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 128

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

Predictors split 37

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

All COLGALT1 variants

Pathogenic 6

  • p.Arg9fs Single submitter Inborn genetic diseases
  • p.Thr186fs Single submitter
  • p.Ala154Pro No assertion criteria brain small vessel disease 3
  • p.Glu366fs No assertion criteria brain small vessel disease 3
  • p.Gly377Arg No assertion criteria brain small vessel disease 3
  • p.Leu151Arg No assertion criteria brain small vessel disease 3

Likely pathogenic 1

  • p.Leu58Pro No assertion criteria brain small vessel disease 3

Conflicting classifications of pathogenicity 6

Benign 11

Benign/Likely benign 6

Likely benign 95

Uncertain significance 192