UCHL3 — 23 ClinVar variants
All ClinVar germline UCHL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Likely benign · 22 Uncertain significance
Full UCHL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UCHL3 p.Ala226Val Uncertain significance Single submitter
- UCHL3 p.Arg215Cys Uncertain significance Single submitter
- UCHL3 p.Asp163Glu Uncertain significance Single submitter
- UCHL3 p.Glu114Asp Uncertain significance Single submitter
- UCHL3 p.His102Asp Uncertain significance Single submitter
- UCHL3 p.His179Arg Uncertain significance Single submitter
- UCHL3 p.His193Arg Uncertain significance Single submitter
- UCHL3 p.His26Leu Uncertain significance Single submitter
- UCHL3 p.Ile58Val Uncertain significance Single submitter
- UCHL3 p.Ile98Thr Uncertain significance Single submitter
- UCHL3 p.Ile98Val Uncertain significance Single submitter
- UCHL3 p.Lys72Arg Uncertain significance Single submitter
- UCHL3 p.Lys72Asn Uncertain significance Single submitter
- UCHL3 p.Met44Leu Uncertain significance Single submitter
- UCHL3 p.Met44Val Uncertain significance Single submitter
- UCHL3 p.Ser92Gly Uncertain significance Single submitter
- UCHL3 p.Thr150Asn Uncertain significance Single submitter
- UCHL3 p.Trp29Arg Uncertain significance Single submitter
- UCHL3 p.Val34Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All UCHL3 variants
Likely benign 1
- p.Ser161Asn Single submitter
Uncertain significance 22
- p.Ala226Val Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Asp163Glu Single submitter ⚠
- p.Glu114Asp Single submitter ⚠
- p.His102Asp Single submitter ⚠
- p.His179Arg Single submitter ⚠
- p.His193Arg Single submitter ⚠
- p.His26Leu Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Ile98Thr Single submitter ⚠
- p.Ile98Val Single submitter ⚠
- p.Lys210Glu Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Lys72Asn Single submitter ⚠
- p.Lys74Asn Single submitter ⚠
- p.Met44Leu Single submitter ⚠
- p.Met44Val Single submitter ⚠
- p.Phe56Tyr Single submitter ⚠
- p.Ser92Gly Single submitter ⚠
- p.Thr150Asn Single submitter ⚠
- p.Trp29Arg Single submitter ⚠
- p.Val34Ala Single submitter ⚠