UBQLN1 — 43 ClinVar variants
All ClinVar germline UBQLN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Likely pathogenic · 1 Benign · 8 Likely benign · 33 Uncertain significance
Full UBQLN1 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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBQLN1 p.Ala18Val Uncertain significance Single submitter
- UBQLN1 p.Ala23Val Uncertain significance Single submitter
- UBQLN1 p.Ala25Gly Uncertain significance Single submitter
- UBQLN1 p.Arg177Gln Uncertain significance Single submitter
- UBQLN1 p.Asn126Ser Uncertain significance Single submitter
- UBQLN1 p.Asn136Ser Uncertain significance Single submitter
- UBQLN1 p.Asn420Thr Uncertain significance Single submitter
- UBQLN1 p.Asn421Ser Uncertain significance Single submitter
- UBQLN1 p.Asn510Ser Uncertain significance Single submitter
- UBQLN1 p.Gly19Arg Uncertain significance Single submitter
- UBQLN1 p.Leu262Pro Uncertain significance Single submitter
- UBQLN1 p.Leu413Phe Uncertain significance Single submitter
- UBQLN1 p.Leu491Ser Uncertain significance Single submitter
- UBQLN1 p.Met394Val Uncertain significance Single submitter
- UBQLN1 p.Met400Val Uncertain significance Single submitter
- UBQLN1 p.Met434Val Uncertain significance Single submitter
- UBQLN1 p.Met454Thr Uncertain significance Single submitter
- UBQLN1 p.Pro520Ser Uncertain significance Single submitter
- UBQLN1 p.Ser498Leu Uncertain significance Single submitter
- UBQLN1 p.Ser7Thr Uncertain significance Single submitter
- UBQLN1 p.Thr143Ala Uncertain significance Single submitter
- UBQLN1 p.Thr166Ala Uncertain significance Single submitter
- UBQLN1 p.Thr314Ile Uncertain significance Single submitter
- UBQLN1 p.Thr440Ala Uncertain significance Single submitter
- UBQLN1 p.Thr475Lys Uncertain significance Single submitter
- UBQLN1 p.Thr73Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- UBQLN1 p.Ala564Ser Uncertain significance Single submitter
- UBQLN1 p.Asn393Asp Uncertain significance Single submitter
- UBQLN1 p.Gly483Arg Uncertain significance Single submitter
- UBQLN1 p.Pro112Arg Uncertain significance Single submitter
- UBQLN1 p.Pro457Ala Uncertain significance Single submitter
- UBQLN1 p.Ser340Cys Uncertain significance Single submitter
- UBQLN1 p.Glu54Asp Uncertain significance No assertion criteria
All UBQLN1 variants
Likely pathogenic 1
- p.Asn126fs Single submitter Abnormal brain morphology
Benign 1
- p.Leu442= Multiple submitters
Likely benign 8
Uncertain significance 33
- p.Ala18Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala25Gly Single submitter ⚠
- p.Ala564Ser Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Asn126Ser Single submitter ⚠
- p.Asn136Ser Single submitter ⚠
- p.Asn393Asp Single submitter ⚠
- p.Asn420Thr Single submitter ⚠
- p.Asn421Ser Single submitter ⚠
- p.Asn510Ser Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly483Arg Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu413Phe Single submitter ⚠
- p.Leu491Ser Single submitter ⚠
- p.Met394Val Single submitter ⚠
- p.Met400Val Single submitter ⚠
- p.Met434Val Single submitter ⚠
- p.Met454Thr Single submitter ⚠
- p.Pro112Arg Single submitter ⚠
- p.Pro457Ala Single submitter ⚠
- p.Pro520Ser Single submitter ⚠
- p.Ser340Cys Single submitter ⚠
- p.Ser498Leu Single submitter ⚠
- p.Ser7Thr Single submitter ⚠
- p.Thr143Ala Single submitter ⚠
- p.Thr166Ala Single submitter ⚠
- p.Thr314Ile Single submitter ⚠
- p.Thr440Ala Single submitter ⚠
- p.Thr475Lys Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Glu54Asp No assertion criteria ⚠