P2RY1 — 22 ClinVar variants
All ClinVar germline P2RY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Benign · 2 Likely benign · 19 Uncertain significance
Full P2RY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- P2RY1 p.Ala147Gly Uncertain significance Single submitter
- P2RY1 p.Ala270Thr Uncertain significance Single submitter
- P2RY1 p.Arg149Gln Uncertain significance Single submitter
- P2RY1 p.Arg287Trp Uncertain significance Single submitter
- P2RY1 p.Asp208Glu Uncertain significance Single submitter
- P2RY1 p.Asp289Tyr Uncertain significance Single submitter
- P2RY1 p.Ile171Met Uncertain significance Single submitter
- P2RY1 p.Leu187Phe Uncertain significance Single submitter
- P2RY1 p.Met282Val Uncertain significance Single submitter
- P2RY1 p.Thr221Met Uncertain significance Single submitter
- P2RY1 p.Thr2Ala Uncertain significance Single submitter
- P2RY1 p.Thr358Asn Uncertain significance Single submitter
- P2RY1 p.Tyr303Cys Uncertain significance Single submitter
- P2RY1 p.Val223Met Uncertain significance Single submitter
- P2RY1 p.Val4Gly Uncertain significance Single submitter
- P2RY1 p.Val4Met Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All P2RY1 variants
Benign 1
- p.Val262= Single submitter
Uncertain significance 19
- p.Ala147Gly Single submitter ⚠
- p.Ala270Thr Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp289Tyr Single submitter ⚠
- p.Gln291Ter Single submitter
- p.Ile171Met Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Thr2Ala Single submitter ⚠
- p.Thr358Asn Single submitter ⚠
- p.Tyr303Cys Single submitter ⚠
- p.Val223Met Single submitter ⚠
- p.Val4Gly Single submitter ⚠
- p.Val4Met Single submitter ⚠