Sugi Variant

Sugi Variant/CHRDL1

CHRDL1 — 98 ClinVar variants

All ClinVar germline CHRDL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

17 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 14 Benign · 2 Benign/Likely benign · 8 Likely benign · 50 Uncertain significance

Full CHRDL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 1

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 19

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

All CHRDL1 variants

Pathogenic 17

Likely pathogenic 5

Conflicting classifications of pathogenicity 2

Benign 14

Benign/Likely benign 2

Likely benign 8

Uncertain significance 50