CPXCR1 — 37 ClinVar variants
All ClinVar germline CPXCR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Conflicting · 2 Benign · 4 Likely benign · 30 Uncertain significance
Full CPXCR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPXCR1 p.Ala165Ser Uncertain significance Single submitter
- CPXCR1 p.Ala179Gly Uncertain significance Single submitter
- CPXCR1 p.Ala231Pro Uncertain significance Single submitter
- CPXCR1 p.Arg192Thr Uncertain significance Single submitter
- CPXCR1 p.Arg206Cys Uncertain significance Single submitter
- CPXCR1 p.Arg206His Uncertain significance Single submitter
- CPXCR1 p.Asn269Ile Uncertain significance Single submitter
- CPXCR1 p.Asn271Ser Uncertain significance Single submitter
- CPXCR1 p.Asp255His Uncertain significance Single submitter
- CPXCR1 p.Cys27Gly Uncertain significance Single submitter
- CPXCR1 p.Cys281Gly Uncertain significance Single submitter
- CPXCR1 p.Glu32Asp Uncertain significance Single submitter
- CPXCR1 p.Glu71Lys Uncertain significance Single submitter
- CPXCR1 p.Ile232Val Uncertain significance Single submitter
- CPXCR1 p.Leu134His Uncertain significance Single submitter
- CPXCR1 p.Leu156Val Uncertain significance Single submitter
- CPXCR1 p.Leu72Phe Uncertain significance Single submitter
- CPXCR1 p.Lys226Arg Uncertain significance Single submitter
- CPXCR1 p.Lys251Glu Uncertain significance Single submitter
- CPXCR1 p.Met263Thr Uncertain significance Single submitter
- CPXCR1 p.Phe217Ser Uncertain significance Single submitter
- CPXCR1 p.Pro23Leu Uncertain significance Single submitter
- CPXCR1 p.Ser137Leu Uncertain significance Single submitter
- CPXCR1 p.Ser145Arg Uncertain significance Single submitter
- CPXCR1 p.Ser70Asn Uncertain significance Single submitter
- CPXCR1 p.Thr170Pro Uncertain significance Single submitter
- CPXCR1 p.Thr29Ala Uncertain significance Single submitter
- CPXCR1 p.Tyr177Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CPXCR1 variants
Conflicting classifications of pathogenicity 1
- p.Arg81Gln Single submitter ⚠
Benign 2
- p.Gly252Ala Multiple submitters
- p.Ser102Tyr Single submitter
Likely benign 4
- p.Arg133Gln Single submitter
- p.Arg175Gln Single submitter
- p.Phe124Ile Single submitter
- p.Ser33Pro Single submitter
Uncertain significance 30
- p.Ala165Ser Single submitter ⚠
- p.Ala179Gly Single submitter ⚠
- p.Ala231Pro Single submitter ⚠
- p.Arg192Thr Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Asn269Ile Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asp255His Single submitter ⚠
- p.Cys278Arg Single submitter ⚠
- p.Cys27Gly Single submitter ⚠
- p.Cys281Gly Single submitter ⚠
- p.Glu32Asp Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Leu134His Single submitter ⚠
- p.Leu156Val Single submitter ⚠
- p.Leu72Phe Single submitter ⚠
- p.Lys226Arg Single submitter ⚠
- p.Lys251Glu Single submitter ⚠
- p.Met263Thr Single submitter ⚠
- p.Phe217Ser Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Ser137Leu Single submitter ⚠
- p.Ser145Arg Single submitter ⚠
- p.Ser70Asn Single submitter ⚠
- p.Thr170Pro Single submitter ⚠
- p.Thr29Ala Single submitter ⚠
- p.Tyr177Cys Single submitter ⚠
- p.Tyr177His Single submitter ⚠