UCHL5 — 26 ClinVar variants
All ClinVar germline UCHL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 1 Likely benign · 24 Uncertain significance
Full UCHL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UCHL5 p.Ala190Gly Uncertain significance Single submitter
- UCHL5 p.Ala236Thr Uncertain significance Single submitter
- UCHL5 p.Asn192Ser Uncertain significance Single submitter
- UCHL5 p.Asn42Ser Uncertain significance Single submitter
- UCHL5 p.Asn4Ser Uncertain significance Single submitter
- UCHL5 p.Asp71Asn Uncertain significance Single submitter
- UCHL5 p.Cys88Tyr Uncertain significance Single submitter
- UCHL5 p.Glu160Asp Uncertain significance Single submitter
- UCHL5 p.His106Arg Uncertain significance Single submitter
- UCHL5 p.Ile235Val Uncertain significance Single submitter
- UCHL5 p.Met255Val Uncertain significance Single submitter
- UCHL5 p.Phe294Leu Uncertain significance Single submitter
- UCHL5 p.Pro293Leu Uncertain significance Single submitter
- UCHL5 p.Ser167Gly Uncertain significance Single submitter
- UCHL5 p.Ser212Thr Uncertain significance Single submitter
- UCHL5 p.Ser72Thr Uncertain significance Single submitter
- UCHL5 p.Val203Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All UCHL5 variants
Benign 1
- c.732+4C>T Multiple submitters
Likely benign 1
- p.Glu7= Single submitter
Uncertain significance 24
- p.Ala190Gly Single submitter ⚠
- p.Ala236Thr Single submitter ⚠
- p.Arg174Lys Single submitter
- p.Asn192Ser Single submitter ⚠
- p.Asn42Ser Single submitter ⚠
- p.Asn4Ser Single submitter ⚠
- p.Asp104Gly Single submitter ⚠
- p.Asp71Asn Single submitter ⚠
- p.Cys88Tyr Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.His106Arg Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Ile282Phe Single submitter ⚠
- p.Lys81Asn Single submitter ⚠
- p.Met148Val Single submitter
- p.Met255Val Single submitter ⚠
- p.Phe294Leu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Ser167Gly Single submitter ⚠
- p.Ser212Thr Single submitter ⚠
- p.Ser67Phe Single submitter
- p.Ser72Thr Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Val203Ile Single submitter ⚠