P2RX5 — 86 ClinVar variants

All ClinVar germline P2RX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

1 Conflicting · 2 Benign · 1 Benign/Likely benign · 4 Likely benign · 78 Uncertain significance

Full P2RX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 lean, ClinVar uncertain 51

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 P2RX5 variants

Conflicting classifications of pathogenicity 1

p.Val73Met Single submitter

Benign 2

p.Asn112fs Single submitter
p.Gln362Ter No assertion criteria P2RX5-related disorder

Benign/Likely benign 1

c.1259+6G>A Multiple submitters

Likely benign 4

p.Ala398= Single submitter
p.Leu158Ser Single submitter
p.Ser361Ala Single submitter
p.Val58Ile Single submitter

Uncertain significance 78

p.Ala128Ser Single submitter ⚠
p.Ala128Thr Single submitter ⚠
p.Ala249Pro Single submitter ⚠
p.Ala269Val Single submitter ⚠
p.Ala298Asp Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala315Thr Single submitter ⚠
p.Ala368Thr Single submitter ⚠
p.Ala74Asp Single submitter ⚠
p.Ala74Val Single submitter ⚠
p.Ala95Asp Single submitter
p.Ala95Val Single submitter ⚠
p.Arg114Trp Single submitter ⚠
p.Arg151His Single submitter ⚠
p.Arg160Gly Single submitter ⚠
p.Arg197His Single submitter ⚠
p.Arg239Cys Single submitter ⚠
p.Arg299Gly Single submitter
p.Arg299Thr Single submitter ⚠
p.Arg302Ter Single submitter
p.Arg347Cys Single submitter ⚠
p.Arg400His Single submitter ⚠
p.Asn106Asp Single submitter ⚠
p.Asn106Lys Single submitter ⚠
p.Asn99Tyr Single submitter ⚠
p.Asp134Asn Single submitter ⚠
p.Asp187Tyr Single submitter ⚠
p.Asp213Glu Single submitter ⚠
p.Asp264Asn Single submitter ⚠
p.Asp333His Single submitter
p.Asp59Tyr Single submitter ⚠
p.Asp80Gly Single submitter ⚠
p.Glu178Gln Single submitter ⚠
p.Glu260Gly Single submitter ⚠
p.Glu271Gln Single submitter ⚠
p.Glu352Lys Single submitter
p.Glu353Lys Single submitter ⚠
p.Gly138Val Single submitter ⚠
p.Gly235Val Single submitter ⚠
p.Gly317Arg Single submitter ⚠
p.Gly326Arg Single submitter ⚠
p.Gly328Ser Single submitter ⚠
p.Gly409Arg Single submitter ⚠
p.Ile124Val Single submitter ⚠
p.Ile248Val Single submitter ⚠
p.Leu13Pro Single submitter ⚠
p.Leu281Val Single submitter
p.Leu285His Single submitter ⚠
p.Lys183Met Single submitter ⚠
p.Lys314Thr Single submitter ⚠
p.Lys399Gln Single submitter ⚠
p.Lys52Asn Single submitter ⚠
p.Met209Arg Single submitter ⚠
p.Met313Ile Single submitter ⚠
p.Met323Ile Single submitter ⚠
p.Met386Ile Single submitter ⚠
p.Phe14Ile Single submitter ⚠
p.Phe14Leu Single submitter ⚠
p.Phe188Val Single submitter ⚠
p.Pro381Ser Single submitter ⚠
p.Ser133Gly Single submitter ⚠
p.Ser133Ile Single submitter ⚠
p.Ser79Leu Single submitter ⚠
p.Thr110Ile Single submitter ⚠
p.Thr173Ser Single submitter ⚠
p.Thr68Ile Single submitter ⚠
p.Tyr16Cys Single submitter ⚠
p.Tyr33Ser Single submitter ⚠
p.Tyr346Ser Single submitter
p.Val100Phe Single submitter ⚠
p.Val117Ile Single submitter ⚠
p.Val141Ile Single submitter ⚠
p.Val237Gly Single submitter ⚠
p.Val254Met Single submitter ⚠
p.Val29Leu Single submitter ⚠
p.Val307Leu Single submitter ⚠
p.Val354Leu Single submitter
p.Val92Ile Single submitter ⚠