Sugi Variant

Sugi Variant/COL27A1

COL27A1 — 2322 ClinVar variants

All ClinVar germline COL27A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 551 flagged for review →

73 Pathogenic · 6 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 56 Conflicting · 82 Benign · 28 Benign/Likely benign · 1473 Likely benign · 530 Uncertain significance

Full COL27A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 551

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 49

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

Predictors lean, ClinVar uncertain 431

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 431

Predictors split 71

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

All COL27A1 variants

Pathogenic 73

Pathogenic/Likely pathogenic 6

Likely pathogenic 74

Conflicting classifications of pathogenicity 56

Benign 82

Benign/Likely benign 28

Likely benign 1473

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

Uncertain significance 530

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