Sugi Variant

Sugi Variant/FUCA1

FUCA1 — 474 ClinVar variants

All ClinVar germline FUCA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

45 Pathogenic · 10 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 16 Conflicting · 18 Benign · 10 Benign/Likely benign · 191 Likely benign · 156 Uncertain significance

Full FUCA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 7

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 31

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

All FUCA1 variants

Pathogenic 45

Pathogenic/Likely pathogenic 10

Likely pathogenic 28

Conflicting classifications of pathogenicity 16

Benign 18

Benign/Likely benign 10

Likely benign 191

Uncertain significance 156