Sugi Variant

Sugi Variant/P2RX2

P2RX2 — 344 ClinVar variants

All ClinVar germline P2RX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 23 Conflicting · 27 Benign · 18 Benign/Likely benign · 91 Likely benign · 182 Uncertain significance

Full P2RX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 14

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

Predictors lean, ClinVar uncertain 109

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

Predictors split 25

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

All P2RX2 variants

Pathogenic 2

  • p.Gly353Arg Single submitter autosomal dominant nonsyndromic hearing loss 41
  • p.Val60Leu Single submitter autosomal dominant nonsyndromic hearing loss 41

Likely pathogenic 1

  • p.Leu41fs Single submitter autosomal dominant nonsyndromic hearing loss

Conflicting classifications of pathogenicity 23

Benign 27

Benign/Likely benign 18

Likely benign 91

Uncertain significance 182