P2RX3 — 57 ClinVar variants
All ClinVar germline P2RX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Benign · 1 Likely benign · 54 Uncertain significance
Full P2RX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- P2RX3 p.Ala197Val Uncertain significance Single submitter
- P2RX3 p.Ala327Val Uncertain significance Single submitter
- P2RX3 p.Arg115His Uncertain significance Single submitter
- P2RX3 p.Arg180Cys Uncertain significance Single submitter
- P2RX3 p.Arg180His Uncertain significance Single submitter
- P2RX3 p.Arg198Gly Uncertain significance Single submitter
- P2RX3 p.Arg28Leu Uncertain significance Single submitter
- P2RX3 p.Asn185Ser Uncertain significance Single submitter
- P2RX3 p.Asp208Asn Uncertain significance Single submitter
- P2RX3 p.Asp208Gly Uncertain significance Single submitter
- P2RX3 p.Asp220Val Uncertain significance Single submitter
- P2RX3 p.Asp306Asn Uncertain significance Single submitter
- P2RX3 p.Asp351Asn Uncertain significance Single submitter
- P2RX3 p.Cys3Arg Uncertain significance Single submitter
- P2RX3 p.Gln255Arg Uncertain significance Single submitter
- P2RX3 p.Glu100Lys Uncertain significance Single submitter
- P2RX3 p.Gly105Glu Uncertain significance Single submitter
- P2RX3 p.Gly130Arg Uncertain significance Single submitter
- P2RX3 p.Gly236Arg Uncertain significance Single submitter
- P2RX3 p.Gly302Val Uncertain significance Single submitter
- P2RX3 p.Gly68Arg Uncertain significance Single submitter
- P2RX3 p.Ile149Val Uncertain significance Single submitter
- P2RX3 p.Ile164Met Uncertain significance Single submitter
- P2RX3 p.Ile303Phe Uncertain significance Single submitter
- P2RX3 p.Ile4Thr Uncertain significance Single submitter
- P2RX3 p.Leu32Phe Uncertain significance Single submitter
- P2RX3 p.Lys271Arg Uncertain significance Single submitter
- P2RX3 p.Met288Thr Uncertain significance Single submitter
- P2RX3 p.Met96Val Uncertain significance Single submitter
- P2RX3 p.Ser20Arg Uncertain significance Single submitter
- P2RX3 p.Ser292Asn Uncertain significance Single submitter
- P2RX3 p.Ser59Leu Uncertain significance Single submitter
- P2RX3 p.Thr196Ser Uncertain significance Single submitter
- P2RX3 p.Trp152Cys Uncertain significance Single submitter
- P2RX3 p.Trp245Arg Uncertain significance Single submitter
- P2RX3 p.Val143Met Uncertain significance Single submitter
- P2RX3 p.Val160Leu Uncertain significance Single submitter
- P2RX3 p.Val17Ile Uncertain significance Single submitter
- P2RX3 p.Val337Ile Uncertain significance Single submitter
- P2RX3 p.Val51Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- P2RX3 p.Arg136Cys Uncertain significance Single submitter
- P2RX3 p.Arg136His Uncertain significance Single submitter
- P2RX3 p.Arg145Trp Uncertain significance Single submitter
- P2RX3 p.Arg217Trp Uncertain significance Single submitter
- P2RX3 p.Arg73Gly Uncertain significance Single submitter
- P2RX3 p.Asp6Tyr Uncertain significance Single submitter
- P2RX3 p.Glu46Lys Uncertain significance Single submitter
- P2RX3 p.Ile175Val Uncertain significance Single submitter
- P2RX3 p.Leu192Phe Uncertain significance Single submitter
- P2RX3 p.Lys201Asn Uncertain significance Single submitter
- P2RX3 p.Ser273Arg Uncertain significance Single submitter
- P2RX3 p.Thr54Ala Uncertain significance Single submitter
- P2RX3 p.Tyr286His Uncertain significance Single submitter
- P2RX3 p.Val77Met Uncertain significance Single submitter
All P2RX3 variants
Benign 2
- c.1003-10C>A Multiple submitters
- p.Arg145Gln Multiple submitters
Likely benign 1
- p.Asn2_Cys3insTer Single submitter
Uncertain significance 54
- p.Ala197Val Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg145Trp Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg198Gly Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg28Leu Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Asn185Ser Single submitter ⚠
- p.Asp208Asn Single submitter ⚠
- p.Asp208Gly Single submitter ⚠
- p.Asp220Val Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Asp351Asn Single submitter ⚠
- p.Asp6Tyr Single submitter ⚠
- p.Cys3Arg Single submitter ⚠
- p.Gln255Arg Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly105Glu Single submitter ⚠
- p.Gly130Arg Single submitter ⚠
- p.Gly236Arg Single submitter ⚠
- p.Gly302Val Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile164Met Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile303Phe Single submitter ⚠
- p.Ile4Thr Single submitter ⚠
- p.Leu192Phe Single submitter ⚠
- p.Leu32Phe Single submitter ⚠
- p.Lys201Asn Single submitter ⚠
- p.Lys271Arg Single submitter ⚠
- p.Met288Thr Single submitter ⚠
- p.Met96Val Single submitter ⚠
- p.Ser20Arg Single submitter ⚠
- p.Ser273Arg Single submitter ⚠
- p.Ser292Asn Single submitter ⚠
- p.Ser59Leu Single submitter ⚠
- p.Thr196Ser Single submitter ⚠
- p.Thr54Ala Single submitter ⚠
- p.Trp152Cys Single submitter ⚠
- p.Trp245Arg Single submitter ⚠
- p.Tyr286His Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val160Leu Single submitter ⚠
- p.Val17Ile Single submitter ⚠
- p.Val337Ile Single submitter ⚠
- p.Val51Ile Single submitter ⚠
- p.Val77Met Single submitter ⚠