Sugi Variant

Sugi Variant/XPR1

XPR1 — 320 ClinVar variants

All ClinVar germline XPR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 44 Benign · 9 Benign/Likely benign · 109 Likely benign · 146 Uncertain significance

Full XPR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 3

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

Predictors lean, ClinVar uncertain 100

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

Predictors split 24

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

All XPR1 variants

Pathogenic 4

  • p.Leu140Pro No assertion criteria basal ganglia calcification, idiopathic, 6
  • p.Leu145Pro No assertion criteria basal ganglia calcification, idiopathic, 6
  • p.Leu218Ser No assertion criteria basal ganglia calcification, idiopathic, 6
  • p.Ser136Asn No assertion criteria basal ganglia calcification, idiopathic, 6 ⚠

Likely pathogenic 3

Conflicting classifications of pathogenicity 5

Benign 44

Benign/Likely benign 9

Likely benign 109

Uncertain significance 146