Sugi Variant

Sugi Variant/XYLT2

XYLT2 — 464 ClinVar variants

All ClinVar germline XYLT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 15 Conflicting · 27 Benign · 15 Benign/Likely benign · 179 Likely benign · 212 Uncertain significance

Full XYLT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

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 8

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 41

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

All XYLT2 variants

Pathogenic 9

Pathogenic/Likely pathogenic 1

  • p.Gly529fs Multiple submitters spondylo-ocular syndrome

Likely pathogenic 6

Conflicting classifications of pathogenicity 15

Benign 27

Benign/Likely benign 15

Likely benign 179

Uncertain significance 212