CPVL — 63 ClinVar variants
All ClinVar germline CPVL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Likely benign · 60 Uncertain significance
Full CPVL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPVL p.Arg136Pro Uncertain significance Single submitter
- CPVL p.Arg177Pro Uncertain significance Single submitter
- CPVL p.Arg29Gly Uncertain significance Single submitter
- CPVL p.Arg319Trp Uncertain significance Single submitter
- CPVL p.Arg360Gln Uncertain significance Single submitter
- CPVL p.Asn313His Uncertain significance Single submitter
- CPVL p.Asp101Val Uncertain significance Single submitter
- CPVL p.Asp260His Uncertain significance Single submitter
- CPVL p.Asp388Asn Uncertain significance Single submitter
- CPVL p.Gln270His Uncertain significance Single submitter
- CPVL p.Gln365Arg Uncertain significance Single submitter
- CPVL p.Glu203Gln Uncertain significance Single submitter
- CPVL p.Gly110Cys Uncertain significance Single submitter
- CPVL p.Gly167Arg Uncertain significance Single submitter
- CPVL p.Gly3Asp Uncertain significance Single submitter
- CPVL p.Gly430Asp Uncertain significance Single submitter
- CPVL p.His448Gln Uncertain significance Single submitter
- CPVL p.Ile245Val Uncertain significance Single submitter
- CPVL p.Ile443Thr Uncertain significance Single submitter
- CPVL p.Leu258Phe Uncertain significance Single submitter
- CPVL p.Leu371Val Uncertain significance Single submitter
- CPVL p.Lys265Arg Uncertain significance Single submitter
- CPVL p.Lys7Gln Uncertain significance Single submitter
- CPVL p.Met71Thr Uncertain significance Single submitter
- CPVL p.Phe465Leu Uncertain significance Single submitter
- CPVL p.Phe66Ser Uncertain significance Single submitter
- CPVL p.Pro112Leu Uncertain significance Single submitter
- CPVL p.Pro19Leu Uncertain significance Single submitter
- CPVL p.Thr145Met Uncertain significance Single submitter
- CPVL p.Thr363Ala Uncertain significance Single submitter
- CPVL p.Trp405Cys Uncertain significance Single submitter
- CPVL p.Val226Leu Uncertain significance Single submitter
- CPVL p.Val355Leu Uncertain significance Single submitter
- CPVL p.Val391Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CPVL p.Arg464Gln Likely benign Multiple submitters
- CPVL p.Ala234Val Uncertain significance Single submitter
- CPVL p.Ala341Thr Uncertain significance Single submitter
- CPVL p.Arg136Cys Uncertain significance Single submitter
- CPVL p.Arg136His Uncertain significance Single submitter
- CPVL p.Arg433Trp Uncertain significance Single submitter
- CPVL p.Asn171Thr Uncertain significance Single submitter
- CPVL p.Asp237Gly Uncertain significance Single submitter
- CPVL p.Asp297Asn Uncertain significance Single submitter
- CPVL p.Asp472Val Uncertain significance Single submitter
- CPVL p.Gly436Ser Uncertain significance Single submitter
- CPVL p.Gly76Ser Uncertain significance Single submitter
- CPVL p.His277Tyr Likely benign Single submitter
- CPVL p.Ile49Thr Uncertain significance Single submitter
- CPVL p.Leu12Pro Uncertain significance Single submitter
- CPVL p.Lys269Thr Uncertain significance Single submitter
- CPVL p.Lys406Arg Uncertain significance Single submitter
- CPVL p.Lys416Glu Uncertain significance Single submitter
- CPVL p.Lys420Thr Uncertain significance Single submitter
- CPVL p.Met133Ile Uncertain significance Single submitter
- CPVL p.Met148Ile Uncertain significance Single submitter
- CPVL p.Pro323Ser Uncertain significance Single submitter
- CPVL p.Pro336Ala Uncertain significance Single submitter
- CPVL p.Pro34Leu Uncertain significance Single submitter
- CPVL p.Tyr199His Uncertain significance Single submitter
- CPVL p.Tyr452Cys Uncertain significance Single submitter
- CPVL p.Val308Leu Uncertain significance Single submitter
- CPVL p.Val475Phe Uncertain significance Single submitter
All CPVL variants
Likely benign 3
- p.Arg464Gln Multiple submitters ⚠
- p.Met5Thr Multiple submitters
- p.His277Tyr Single submitter ⚠
Uncertain significance 60
- p.Ala234Val Single submitter ⚠
- p.Ala341Thr Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg136Pro Single submitter ⚠
- p.Arg177Pro Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg319Trp Single submitter ⚠
- p.Arg360Gln Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Asn171Thr Single submitter ⚠
- p.Asn313His Single submitter ⚠
- p.Asp101Val Single submitter ⚠
- p.Asp237Gly Single submitter ⚠
- p.Asp260His Single submitter ⚠
- p.Asp297Asn Single submitter ⚠
- p.Asp388Asn Single submitter ⚠
- p.Asp472Val Single submitter ⚠
- p.Gln270His Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Glu203Gln Single submitter ⚠
- p.Gly110Cys Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly3Asp Single submitter ⚠
- p.Gly430Asp Single submitter ⚠
- p.Gly436Ser Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.His448Gln Single submitter ⚠
- p.Ile245Val Single submitter ⚠
- p.Ile443Thr Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu258Phe Single submitter ⚠
- p.Leu371Val Single submitter ⚠
- p.Lys265Arg Single submitter ⚠
- p.Lys269Thr Single submitter ⚠
- p.Lys406Arg Single submitter ⚠
- p.Lys416Glu Single submitter ⚠
- p.Lys420Thr Single submitter ⚠
- p.Lys7Gln Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met148Ile Single submitter ⚠
- p.Met71Thr Single submitter ⚠
- p.Phe465Leu Single submitter ⚠
- p.Phe66Ser Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro336Ala Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Thr145Met Single submitter ⚠
- p.Thr363Ala Single submitter ⚠
- p.Trp405Cys Single submitter ⚠
- p.Tyr199His Single submitter ⚠
- p.Tyr452Cys Single submitter ⚠
- p.Val226Leu Single submitter ⚠
- p.Val308Leu Single submitter ⚠
- p.Val355Leu Single submitter ⚠
- p.Val391Met Single submitter ⚠
- p.Val475Phe Single submitter ⚠