Sugi Variant

Sugi Variant/COL11A1

COL11A1 — 3357 ClinVar variants

All ClinVar germline COL11A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1329 flagged for review →

100 Pathogenic · 17 Pathogenic/Likely pathogenic · 131 Likely pathogenic · 311 Conflicting · 332 Benign · 51 Benign/Likely benign · 1174 Likely benign · 1241 Uncertain significance

Full COL11A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1329

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 1

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

Predictors agree, ClinVar conflicts 130

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

Predicted LoF vs a conflicting call 2

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 609

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 609

Predictors split 587

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 587

All COL11A1 variants

Pathogenic 100

Pathogenic/Likely pathogenic 17

Likely pathogenic 131

Conflicting classifications of pathogenicity 311

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

Benign 332

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

Benign/Likely benign 51

Likely benign 1174

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

Uncertain significance 1241

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