UBXN1 — 45 ClinVar variants
All ClinVar germline UBXN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
4 Likely benign · 41 Uncertain significance
Full UBXN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBXN1 p.Ala191Val Uncertain significance Single submitter
- UBXN1 p.Ala23Val Uncertain significance Single submitter
- UBXN1 p.Arg115Gln Uncertain significance Single submitter
- UBXN1 p.Arg231Gln Uncertain significance Single submitter
- UBXN1 p.Arg231Trp Uncertain significance Single submitter
- UBXN1 p.Arg233Gly Uncertain significance Single submitter
- UBXN1 p.Arg233Trp Uncertain significance Single submitter
- UBXN1 p.Arg266Gly Uncertain significance Single submitter
- UBXN1 p.Asp47Ala Uncertain significance Single submitter
- UBXN1 p.Gln213Arg Uncertain significance Single submitter
- UBXN1 p.Glu41Gly Uncertain significance Single submitter
- UBXN1 p.Glu88Lys Uncertain significance Single submitter
- UBXN1 p.Gly31Ala Uncertain significance Single submitter
- UBXN1 p.Gly82Val Uncertain significance Single submitter
- UBXN1 p.Ile168Met Uncertain significance Single submitter
- UBXN1 p.Leu260Phe Uncertain significance Single submitter
- UBXN1 p.Lys96Arg Uncertain significance Single submitter
- UBXN1 p.Pro201Leu Uncertain significance Single submitter
- UBXN1 p.Pro51Ala Uncertain significance Single submitter
- UBXN1 p.Ser66Phe Uncertain significance Single submitter
- UBXN1 p.Thr65Ser Uncertain significance Single submitter
- UBXN1 p.Thr95Ala Uncertain significance Single submitter
- UBXN1 p.Val183Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- UBXN1 p.Ala159Thr Uncertain significance Single submitter
- UBXN1 p.Arg115Leu Uncertain significance Single submitter
- UBXN1 p.Arg151Leu Uncertain significance Single submitter
- UBXN1 p.Cys214Ser Uncertain significance Single submitter
- UBXN1 p.Glu210Lys Uncertain significance Single submitter
- UBXN1 p.Gly180Asp Uncertain significance Single submitter
- UBXN1 p.Met40Thr Uncertain significance Single submitter
- UBXN1 p.Ser199Phe Uncertain significance Single submitter
- UBXN1 p.Ser262Arg Uncertain significance Single submitter
- UBXN1 p.Val218Phe Uncertain significance Single submitter
All UBXN1 variants
Likely benign 4
- c.221-14TTGT[2] Single submitter
- p.Ala20= Single submitter
- p.Glu249Gln Single submitter
- p.Ile59= Single submitter
Uncertain significance 41
- c.844+39G>C Single submitter
- c.844+43G>A Single submitter
- c.844+54T>G Single submitter
- c.844+61G>A Single submitter
- c.844+67G>T Single submitter
- c.844+78A>G Single submitter
- c.844+84G>A Single submitter
- p.Ala159Thr Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Arg115Gln Single submitter ⚠
- p.Arg115Leu Single submitter ⚠
- p.Arg151Leu Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg233Gly Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg266Gly Single submitter ⚠
- p.Asp47Ala Single submitter ⚠
- p.Cys214Ser Single submitter ⚠
- p.Gln213Arg Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu41Gly Single submitter ⚠
- p.Glu88Lys Single submitter ⚠
- p.Gly180Asp Single submitter ⚠
- p.Gly28Glu Single submitter
- p.Gly31Ala Single submitter ⚠
- p.Gly82Val Single submitter ⚠
- p.Ile168Met Single submitter ⚠
- p.Leu260Phe Single submitter ⚠
- p.Lys96Arg Single submitter ⚠
- p.Met40Thr Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro51Ala Single submitter ⚠
- p.Ser199Phe Single submitter ⚠
- p.Ser262Arg Single submitter ⚠
- p.Ser66Phe Single submitter ⚠
- p.Thr65Ser Single submitter ⚠
- p.Thr95Ala Single submitter ⚠
- p.Val183Ala Single submitter ⚠
- p.Val218Phe Single submitter ⚠