Sugi Variant

Sugi Variant/COL2A1

COL2A1 — 3392 ClinVar variants

All ClinVar germline COL2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 922 flagged for review →

574 Pathogenic · 81 Pathogenic/Likely pathogenic · 401 Likely pathogenic · 267 Conflicting · 183 Benign · 51 Benign/Likely benign · 1004 Likely benign · 831 Uncertain significance

Full COL2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 922

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 3

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

Predictors agree, ClinVar conflicts 79

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 291

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 291

Predictors split 548

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 548

All COL2A1 variants

Pathogenic 574

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

Pathogenic/Likely pathogenic 81

Likely pathogenic 401

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

Conflicting classifications of pathogenicity 267

Benign 183

Benign/Likely benign 51

Likely benign 1004

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

Uncertain significance 831

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