P2RX1 — 83 ClinVar variants
All ClinVar germline P2RX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
13 Benign · 13 Likely benign · 57 Uncertain significance
Full P2RX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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.
- P2RX1 p.Ala384Val Uncertain significance Single submitter
- P2RX1 p.Arg203Ser Uncertain significance Single submitter
-
P2RX1 p.Arg20Cys
Uncertain significance
Single submitter
P2RX1-related disorder
- P2RX1 p.Arg20Gly Uncertain significance Single submitter
- P2RX1 p.Arg20His Uncertain significance Single submitter
- P2RX1 p.Arg305Gly Uncertain significance Single submitter
- P2RX1 p.Arg314Gly Uncertain significance Single submitter
- P2RX1 p.Arg3Gly Uncertain significance Single submitter
- P2RX1 p.Asn191His Uncertain significance Single submitter
- P2RX1 p.Asp154Asn Uncertain significance Single submitter
- P2RX1 p.Asp171Asn Uncertain significance Single submitter
- P2RX1 p.Asp382Glu Uncertain significance Single submitter
- P2RX1 p.Cys117Tyr Uncertain significance Single submitter
- P2RX1 p.Gln393Glu Uncertain significance Single submitter
- P2RX1 p.Gln76Arg Uncertain significance Single submitter
- P2RX1 p.Glu8Lys Uncertain significance Single submitter
- P2RX1 p.Gly143Asp Uncertain significance Single submitter
- P2RX1 p.Gly321Ser Uncertain significance Single submitter
- P2RX1 p.Gly60Ser Uncertain significance Single submitter
- P2RX1 p.Gly96Arg Uncertain significance Single submitter
- P2RX1 p.His224Arg Uncertain significance Single submitter
- P2RX1 p.Leu13Ile Uncertain significance Single submitter
- P2RX1 p.Leu307Phe Uncertain significance Single submitter
- P2RX1 p.Met214Val Uncertain significance Single submitter
- P2RX1 p.Phe243Leu Uncertain significance Single submitter
- P2RX1 p.Phe311Ile Uncertain significance Single submitter
- P2RX1 p.Pro287Leu Uncertain significance Single submitter
- P2RX1 p.Pro358Ser Uncertain significance Single submitter
- P2RX1 p.Ser58Leu Uncertain significance Single submitter
- P2RX1 p.Ser63Ile Uncertain significance Single submitter
- P2RX1 p.Thr331Ala Uncertain significance Single submitter
- P2RX1 p.Thr334Ala Uncertain significance Single submitter
- P2RX1 p.Tyr55Asn Uncertain significance Single submitter
- P2RX1 p.Val267Ile Uncertain significance Single submitter
- P2RX1 p.Val298Met Uncertain significance Single submitter
- P2RX1 p.Val74Met Uncertain significance Single submitter
- P2RX1 p.Val91Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- P2RX1 p.Ala182Ser Uncertain significance Single submitter
- P2RX1 p.Ala182Thr Uncertain significance Single submitter
- P2RX1 p.Arg145Cys Uncertain significance Single submitter
- P2RX1 p.Arg314His Uncertain significance Single submitter
- P2RX1 p.Arg3Trp Uncertain significance Single submitter
- P2RX1 p.Glu183Lys Uncertain significance Single submitter
- P2RX1 p.Gly240Asp Uncertain significance Single submitter
- P2RX1 p.Gly81Ser Uncertain significance Single submitter
- P2RX1 p.Ile339Thr Uncertain significance Single submitter
- P2RX1 p.Leu178Arg Uncertain significance Single submitter
- P2RX1 p.Leu61Phe Uncertain significance Single submitter
- P2RX1 p.Phe195Leu Uncertain significance Single submitter
- P2RX1 p.Phe219Leu Uncertain significance Single submitter
- P2RX1 p.Ser58Trp Uncertain significance Single submitter
- P2RX1 p.Thr158Met Uncertain significance Single submitter
- P2RX1 p.Val310Met Uncertain significance Single submitter
- P2RX1 p.Val44Ala Uncertain significance Single submitter
-
P2RX1 p.Asn300Ile
Uncertain significance
No assertion criteria
P2RX1-related disorder
All P2RX1 variants
Benign 13
- c.1033-30C>T Multiple submitters
- c.138-52A>G Multiple submitters
- c.357+120T>C Multiple submitters
- c.525-119A>G Multiple submitters
- c.605+51G>C Multiple submitters
- c.606-27A>T Multiple submitters
- c.*113A>G Multiple submitters
- c.*28G>A Multiple submitters
- c.*85C>T Multiple submitters
- p.Met396Val Multiple submitters
- c.1135-9C>T Single submitter
- p.Tyr370= Single submitter
- p.Ile335= No assertion criteria P2RX1-related disorder
Likely benign 13
- c.748-8C>A Single submitter
- p.Arg180Gln Single submitter
- c.138-6G>A No assertion criteria P2RX1-related disorder
- c.138-7C>T No assertion criteria P2RX1-related disorder
- c.428-4C>T No assertion criteria P2RX1-related disorder
- p.Ala11Thr No assertion criteria P2RX1-related disorder
- p.Arg381His No assertion criteria P2RX1-related disorder
- p.Glu238= No assertion criteria P2RX1-related disorder
- p.Leu383= No assertion criteria P2RX1-related disorder
- p.Ser58= No assertion criteria P2RX1-related disorder
- p.Thr146= No assertion criteria P2RX1-related disorder
- p.Tyr280= No assertion criteria P2RX1-related disorder
- p.Val24= No assertion criteria P2RX1-related disorder
Uncertain significance 57
- p.Ala182Ser Single submitter ⚠
- p.Ala182Thr Single submitter ⚠
- p.Ala384Val Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg203Ser Single submitter ⚠
- p.Arg20Cys Single submitter P2RX1-related disorder ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg25Cys Single submitter P2RX1-related disorder
- p.Arg305Gly Single submitter ⚠
- p.Arg314Gly Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg3Gly Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Asn191His Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp382Glu Single submitter ⚠
- p.Cys117Tyr Single submitter ⚠
- p.Gln393Glu Single submitter ⚠
- p.Gln76Arg Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly240Asp Single submitter ⚠
- p.Gly321Ser Single submitter ⚠
- p.Gly60Ser Single submitter ⚠
- p.Gly81Ser Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His224Arg Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Leu13Ile Single submitter ⚠
- p.Leu178Arg Single submitter ⚠
- p.Leu307Phe Single submitter ⚠
- p.Leu61Phe Single submitter ⚠
- p.Met214Val Single submitter ⚠
- p.Phe195Leu Single submitter ⚠
- p.Phe219Leu Single submitter ⚠
- p.Phe243Leu Single submitter ⚠
- p.Phe311Ile Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Ser58Leu Single submitter ⚠
- p.Ser58Trp Single submitter ⚠
- p.Ser63Ile Single submitter ⚠
- p.Thr158Met Single submitter ⚠
- p.Thr331Ala Single submitter ⚠
- p.Thr334Ala Single submitter ⚠
- p.Tyr55Asn Single submitter ⚠
- p.Val267Ile Single submitter ⚠
- p.Val298Met Single submitter ⚠
- p.Val310Met Single submitter ⚠
- p.Val44Ala Single submitter ⚠
- p.Val74Met Single submitter ⚠
- p.Val91Ile Single submitter ⚠
- p.Asn300Ile No assertion criteria P2RX1-related disorder ⚠
- p.Leu354del No assertion criteria platelet-type bleeding disorder 8