P2RX4 — 57 ClinVar variants
All ClinVar germline P2RX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
4 Benign · 4 Likely benign · 49 Uncertain significance
Full P2RX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- P2RX4 p.Ala267Ser Uncertain significance Single submitter
- P2RX4 p.Ala87Gly Uncertain significance Single submitter
- P2RX4 p.Ala87Val Uncertain significance Single submitter
- P2RX4 p.Arg282Gln Uncertain significance Single submitter
- P2RX4 p.Arg301Thr Uncertain significance Single submitter
- P2RX4 p.Arg309His Uncertain significance Single submitter
- P2RX4 p.Arg318Cys Uncertain significance Single submitter
- P2RX4 p.Arg368Gln Uncertain significance Single submitter
- P2RX4 p.Arg82Gln Uncertain significance Single submitter
- P2RX4 p.Asn110Lys Uncertain significance Single submitter
- P2RX4 p.Asp320Asn Uncertain significance Single submitter
- P2RX4 p.Asp377Gly Uncertain significance Single submitter
- P2RX4 p.Cys116Ser Uncertain significance Single submitter
- P2RX4 p.Cys132Tyr Uncertain significance Single submitter
- P2RX4 p.Glu168Gly Uncertain significance Single submitter
- P2RX4 p.Glu385Lys Uncertain significance Single submitter
- P2RX4 p.Gly250Arg Uncertain significance Single submitter
- P2RX4 p.Gly251Asp Uncertain significance Single submitter
- P2RX4 p.Gly325Arg Uncertain significance Single submitter
- P2RX4 p.Ile255Asn Uncertain significance Single submitter
- P2RX4 p.Leu269Phe Uncertain significance Single submitter
- P2RX4 p.Leu79Phe Uncertain significance Single submitter
- P2RX4 p.Pro120Leu Uncertain significance Single submitter
- P2RX4 p.Pro120Thr Uncertain significance Single submitter
- P2RX4 p.Pro166Leu Uncertain significance Single submitter
- P2RX4 p.Thr133Pro Uncertain significance Single submitter
- P2RX4 p.Thr76Ser Uncertain significance Single submitter
- P2RX4 p.Tyr292His Uncertain significance Single submitter
- P2RX4 p.Tyr367Cys Uncertain significance Single submitter
- P2RX4 p.Val150Ile Uncertain significance Single submitter
- P2RX4 p.Val173Met Uncertain significance Single submitter
- P2RX4 p.Val248Met Uncertain significance Single submitter
- P2RX4 p.Val64Asp Uncertain significance Single submitter
- P2RX4 p.Val64Ile Uncertain significance Single submitter
- P2RX4 p.Val64Leu Uncertain significance Single submitter
- P2RX4 p.Val64Phe Uncertain significance Single submitter
- P2RX4 p.Val71Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- P2RX4 p.Ala349Thr Uncertain significance Single submitter
- P2RX4 p.Arg277Cys Uncertain significance Single submitter
- P2RX4 p.Arg318His Uncertain significance Single submitter
- P2RX4 p.Asp260His Uncertain significance Single submitter
- P2RX4 p.Gly3Cys Benign Single submitter
- P2RX4 p.Leu187Phe Uncertain significance Single submitter
- P2RX4 p.Pro174Ser Uncertain significance Single submitter
- P2RX4 p.Pro196Arg Uncertain significance Single submitter
- P2RX4 p.Ser216Leu Uncertain significance Single submitter
- P2RX4 p.Thr310Met Uncertain significance Single submitter
All P2RX4 variants
Benign 4
- c.978+8G>A Multiple submitters
- c.1045-10C>G Single submitter
- c.427+5G>C Single submitter
- p.Gly3Cys Single submitter ⚠
Likely benign 4
- p.Ile339Val Single submitter
- p.Lys298Thr Single submitter
- p.Thr65Met Single submitter
- p.Val101Ile Single submitter
Uncertain significance 49
- p.Ala267Ser Single submitter ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala87Gly Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg301Thr Single submitter ⚠
- p.Arg309His Single submitter ⚠
- p.Arg318Cys Single submitter ⚠
- p.Arg318His Single submitter ⚠
- p.Arg368Gln Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn110Lys Single submitter ⚠
- p.Asp260His Single submitter ⚠
- p.Asp320Asn Single submitter ⚠
- p.Asp377Gly Single submitter ⚠
- p.Cys116Ser Single submitter ⚠
- p.Cys132Tyr Single submitter ⚠
- p.Gln111Glu Single submitter
- p.Gln94Lys Single submitter
- p.Glu168Gly Single submitter ⚠
- p.Glu385Lys Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly251Asp Single submitter ⚠
- p.Gly325Arg Single submitter ⚠
- p.Ile255Asn Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Leu269Phe Single submitter ⚠
- p.Leu79Phe Single submitter ⚠
- p.Met102Thr Single submitter
- p.Pro120Leu Single submitter ⚠
- p.Pro120Thr Single submitter ⚠
- p.Pro166Leu Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro196Arg Single submitter ⚠
- p.Ser216Leu Single submitter ⚠
- p.Thr133Pro Single submitter ⚠
- p.Thr310Met Single submitter ⚠
- p.Thr76Ser Single submitter ⚠
- p.Tyr292His Single submitter ⚠
- p.Tyr367Cys Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val173Met Single submitter ⚠
- p.Val248Met Single submitter ⚠
- p.Val64Asp Single submitter ⚠
- p.Val64Ile Single submitter ⚠
- p.Val64Leu Single submitter ⚠
- p.Val64Phe Single submitter ⚠
- p.Val71Met Single submitter ⚠