PELI1 — 45 ClinVar variants
All ClinVar germline PELI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely benign · 44 Uncertain significance
Full PELI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PELI1 p.Ala357Thr Uncertain significance Single submitter
- PELI1 p.Ala363Val Uncertain significance Single submitter
- PELI1 p.Ala403Ser Uncertain significance Single submitter
- PELI1 p.Arg219Cys Uncertain significance Single submitter
- PELI1 p.Arg227Thr Uncertain significance Single submitter
- PELI1 p.Arg326His Uncertain significance Single submitter
- PELI1 p.Arg83Trp Uncertain significance Single submitter
- PELI1 p.Asn195Ser Uncertain significance Single submitter
- PELI1 p.Asn26Asp Uncertain significance Single submitter
- PELI1 p.Cys395Arg Uncertain significance Single submitter
- PELI1 p.Gln406Arg Uncertain significance Single submitter
- PELI1 p.Glu324Gln Uncertain significance Single submitter
- PELI1 p.Gly167Ala Uncertain significance Single submitter
- PELI1 p.Gly358Ser Uncertain significance Single submitter
- PELI1 p.His261Arg Uncertain significance Single submitter
- PELI1 p.His261Gln Uncertain significance Single submitter
- PELI1 p.His362Arg Uncertain significance Single submitter
- PELI1 p.His400Arg Uncertain significance Single submitter
- PELI1 p.His400Tyr Uncertain significance Single submitter
- PELI1 p.Ile142Met Uncertain significance Single submitter
- PELI1 p.Ile233Asn Uncertain significance Single submitter
- PELI1 p.Ile69Val Uncertain significance Single submitter
- PELI1 p.Lys297Gln Uncertain significance Single submitter
- PELI1 p.Lys323Gln Uncertain significance Single submitter
- PELI1 p.Pro263Leu Uncertain significance Single submitter
- PELI1 p.Pro47Arg Uncertain significance Single submitter
- PELI1 p.Ser108Asn Uncertain significance Single submitter
- PELI1 p.Ser82Tyr Uncertain significance Single submitter
- PELI1 p.Thr150Ala Uncertain significance Single submitter
- PELI1 p.Thr56Ala Uncertain significance Single submitter
- PELI1 p.Thr80Ile Uncertain significance Single submitter
- PELI1 p.Val130Ile Uncertain significance Single submitter
- PELI1 p.Val265Leu Uncertain significance Single submitter
- PELI1 p.Val265Met Uncertain significance Single submitter
- PELI1 p.Val299Phe Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PELI1 p.His192Arg Uncertain significance Single submitter
- PELI1 p.His389Arg Uncertain significance Single submitter
- PELI1 p.Lys174Asn Uncertain significance Single submitter
- PELI1 p.Lys202Asn Uncertain significance Single submitter
- PELI1 p.Lys67Glu Uncertain significance Single submitter
- PELI1 p.Pro30Thr Uncertain significance Single submitter
- PELI1 p.Thr262Pro Uncertain significance Single submitter
All PELI1 variants
Likely benign 1
- p.Ala363= Single submitter
Uncertain significance 44
- p.Ala357Thr Single submitter ⚠
- p.Ala363Val Single submitter ⚠
- p.Ala403Ser Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg227Thr Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn26Asp Single submitter ⚠
- p.Cys395Arg Single submitter ⚠
- p.Gln406Arg Single submitter ⚠
- p.Glu324Gln Single submitter ⚠
- p.Gly167Ala Single submitter ⚠
- p.Gly358Ser Single submitter ⚠
- p.His192Arg Single submitter ⚠
- p.His261Arg Single submitter ⚠
- p.His261Gln Single submitter ⚠
- p.His362Arg Single submitter ⚠
- p.His389Arg Single submitter ⚠
- p.His400Arg Single submitter ⚠
- p.His400Tyr Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile233Asn Single submitter ⚠
- p.Ile69Val Single submitter ⚠
- p.Lys174Asn Single submitter ⚠
- p.Lys202Asn Single submitter ⚠
- p.Lys297Gln Single submitter ⚠
- p.Lys323Gln Single submitter ⚠
- p.Lys67Glu Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro30Thr Single submitter ⚠
- p.Pro47Arg Single submitter ⚠
- p.Ser108Asn Single submitter ⚠
- p.Ser82Tyr Single submitter ⚠
- p.Thr150Ala Single submitter ⚠
- p.Thr262Pro Single submitter ⚠
- p.Thr361Ala Single submitter
- p.Thr56Ala Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Val130Ile Single submitter ⚠
- p.Val231Met Single submitter
- p.Val265Leu Single submitter ⚠
- p.Val265Met Single submitter ⚠
- p.Val299Phe Single submitter ⚠