CPQ — 73 ClinVar variants
All ClinVar germline CPQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
7 Benign · 4 Likely benign · 62 Uncertain significance
Full CPQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPQ p.Ala383Thr Uncertain significance Single submitter
- CPQ p.Ala7Ser Uncertain significance Single submitter
- CPQ p.Arg182Lys Uncertain significance Single submitter
- CPQ p.Arg244Thr Uncertain significance Single submitter
- CPQ p.Arg62Lys Uncertain significance Single submitter
- CPQ p.Asn26Ser Uncertain significance Single submitter
- CPQ p.Asn396Asp Uncertain significance Single submitter
- CPQ p.Asp292Gly Uncertain significance Single submitter
- CPQ p.Asp45Glu Uncertain significance Single submitter
- CPQ p.Cys233Tyr Uncertain significance Single submitter
- CPQ p.Gln399Arg Uncertain significance Single submitter
- CPQ p.Glu387Lys Uncertain significance Single submitter
- CPQ p.His433Arg Uncertain significance Single submitter
- CPQ p.His433Leu Uncertain significance Single submitter
- CPQ p.Ile36Val Uncertain significance Single submitter
- CPQ p.Leu291Pro Uncertain significance Single submitter
- CPQ p.Leu469Pro Uncertain significance Single submitter
- CPQ p.Leu53Arg Uncertain significance Single submitter
- CPQ p.Met361Thr Uncertain significance Single submitter
- CPQ p.Met389Ile Uncertain significance Single submitter
- CPQ p.Met91Ile Uncertain significance Single submitter
- CPQ p.Phe411Ile Uncertain significance Single submitter
- CPQ p.Ser288Gly Uncertain significance Single submitter
- CPQ p.Trp412Ser Uncertain significance Single submitter
- CPQ p.Val103Asp Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- CPQ p.Ile139Thr Uncertain significance Multiple submitters
- CPQ p.Ile204Val Benign Multiple submitters
- CPQ p.Tyr92Asp Benign Multiple submitters
- CPQ p.Ala131Thr Uncertain significance Single submitter
- CPQ p.Ala191Val Uncertain significance Single submitter
- CPQ p.Ala313Thr Uncertain significance Single submitter
- CPQ p.Ala381Val Uncertain significance Single submitter
- CPQ p.Arg205Gly Uncertain significance Single submitter
- CPQ p.Arg323Cys Uncertain significance Single submitter
- CPQ p.Arg329Gln Uncertain significance Single submitter
- CPQ p.Arg66Gln Uncertain significance Single submitter
- CPQ p.Asp157Asn Uncertain significance Single submitter
- CPQ p.Gln348Lys Uncertain significance Single submitter
- CPQ p.Gln393His Uncertain significance Single submitter
- CPQ p.Glu193Asp Uncertain significance Single submitter
- CPQ p.Gly10Asp Uncertain significance Single submitter
- CPQ p.Gly116Arg Uncertain significance Single submitter
- CPQ p.Gly134Ser Uncertain significance Single submitter
- CPQ p.Gly249Arg Uncertain significance Single submitter
- CPQ p.Gly305Ser Uncertain significance Single submitter
- CPQ p.His128Tyr Uncertain significance Single submitter
- CPQ p.His350Gln Uncertain significance Single submitter
- CPQ p.Ile178Asn Uncertain significance Single submitter
- CPQ p.Ile252Val Uncertain significance Single submitter
- CPQ p.Ile36Met Uncertain significance Single submitter
- CPQ p.Ile50Val Uncertain significance Single submitter
- CPQ p.Leu203Val Uncertain significance Single submitter
- CPQ p.Phe432Leu Uncertain significance Single submitter
- CPQ p.Ser16Phe Uncertain significance Single submitter
- CPQ p.Ser247Cys Uncertain significance Single submitter
- CPQ p.Thr154Ile Uncertain significance Single submitter
- CPQ p.Thr183Met Uncertain significance Single submitter
- CPQ p.Thr188Met Uncertain significance Single submitter
- CPQ p.Thr235Met Uncertain significance Single submitter
- CPQ p.Thr367Asn Uncertain significance Single submitter
- CPQ p.Thr398Pro Uncertain significance Single submitter
- CPQ p.Val207Met Uncertain significance Single submitter
- CPQ p.Val226Met Uncertain significance Single submitter
- CPQ p.Val388Ala Uncertain significance Single submitter
All CPQ variants
Benign 7
- p.Ile204Val Multiple submitters ⚠
- p.Leu151Pro Multiple submitters
- p.Leu330= Multiple submitters
- p.Ser138Asn Multiple submitters
- p.Tyr92Asp Multiple submitters ⚠
- c.433+8T>C Single submitter
- p.Arg329= Single submitter
Likely benign 4
- p.Ala7Thr Single submitter
- p.Ile178Val Single submitter
- p.Met1fs Single submitter
- p.Tyr56Ter Single submitter
Uncertain significance 62
- p.Ile139Thr Multiple submitters ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala313Thr Single submitter ⚠
- p.Ala381Val Single submitter ⚠
- p.Ala383Thr Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg182Lys Single submitter ⚠
- p.Arg205Gly Single submitter ⚠
- p.Arg244Thr Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg62Lys Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asn396Asp Single submitter ⚠
- p.Asp157Asn Single submitter ⚠
- p.Asp292Gly Single submitter ⚠
- p.Asp45Glu Single submitter ⚠
- p.Cys233Tyr Single submitter ⚠
- p.Gln348Lys Single submitter ⚠
- p.Gln393His Single submitter ⚠
- p.Gln399Arg Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Gly10Asp Single submitter ⚠
- p.Gly116Arg Single submitter ⚠
- p.Gly134Ser Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Gly305Ser Single submitter ⚠
- p.His128Tyr Single submitter ⚠
- p.His350Gln Single submitter ⚠
- p.His433Arg Single submitter ⚠
- p.His433Leu Single submitter ⚠
- p.Ile178Asn Single submitter ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile36Met Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Ile50Val Single submitter ⚠
- p.Leu203Val Single submitter ⚠
- p.Leu291Pro Single submitter ⚠
- p.Leu469Pro Single submitter ⚠
- p.Leu53Arg Single submitter ⚠
- p.Met361Thr Single submitter ⚠
- p.Met389Ile Single submitter ⚠
- p.Met91Ile Single submitter ⚠
- p.Phe411Ile Single submitter ⚠
- p.Phe432Leu Single submitter ⚠
- p.Ser16Phe Single submitter ⚠
- p.Ser247Cys Single submitter ⚠
- p.Ser288Gly Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr188Met Single submitter ⚠
- p.Thr235Met Single submitter ⚠
- p.Thr367Asn Single submitter ⚠
- p.Thr398Pro Single submitter ⚠
- p.Trp412Ser Single submitter ⚠
- p.Val103Asp Single submitter ⚠
- p.Val207Met Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val388Ala Single submitter ⚠