USE1 — 36 ClinVar variants
All ClinVar germline USE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Likely benign · 35 Uncertain significance
Full USE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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.
- USE1 p.Ala156Val Uncertain significance Single submitter
- USE1 p.Ala190Thr Uncertain significance Single submitter
- USE1 p.Ala19Thr Uncertain significance Single submitter
- USE1 p.Ala236Val Uncertain significance Single submitter
- USE1 p.Ala74Gly Uncertain significance Single submitter
- USE1 p.Arg114Gly Uncertain significance Single submitter
- USE1 p.Arg122Trp Uncertain significance Single submitter
- USE1 p.Arg94Leu Uncertain significance Single submitter
- USE1 p.Asn198Ser Uncertain significance Single submitter
- USE1 p.Asp26Gly Uncertain significance Single submitter
- USE1 p.Gly127Asp Uncertain significance Single submitter
- USE1 p.His110Leu Uncertain significance Single submitter
- USE1 p.His203Gln Uncertain significance Single submitter
- USE1 p.Ile239Phe Uncertain significance Single submitter
- USE1 p.Leu250Phe Uncertain significance Single submitter
- USE1 p.Met237Thr Uncertain significance Single submitter
- USE1 p.Phe251Cys Uncertain significance Single submitter
- USE1 p.Ser123Cys Uncertain significance Single submitter
- USE1 p.Ser130Cys Uncertain significance Single submitter
- USE1 p.Thr128Met Uncertain significance Single submitter
- USE1 p.Thr217Arg Uncertain significance Single submitter
- USE1 p.Thr226Met Uncertain significance Single submitter
- USE1 p.Thr78Ile Uncertain significance Single submitter
- USE1 p.Val137Ile Uncertain significance Single submitter
- USE1 p.Val143Met Uncertain significance Single submitter
- USE1 p.Val48Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All USE1 variants
Likely benign 1
- p.Ser15Cys Single submitter
Uncertain significance 35
- p.Ala156Val Single submitter ⚠
- p.Ala173Val Single submitter
- p.Ala190Thr Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala74Gly Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg122Trp Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asp26Gly Single submitter ⚠
- p.Gly127Asp Single submitter ⚠
- p.His110Leu Single submitter ⚠
- p.His203Gln Single submitter ⚠
- p.Ile239Phe Single submitter ⚠
- p.Leu162Arg Single submitter
- p.Leu250Phe Single submitter ⚠
- p.Leu43Trp Single submitter
- p.Met20Val Single submitter ⚠
- p.Met237Thr Single submitter ⚠
- p.Met248Val Single submitter ⚠
- p.Phe251Cys Single submitter ⚠
- p.Phe251Ser Single submitter ⚠
- p.Ser123Cys Single submitter ⚠
- p.Ser130Cys Single submitter ⚠
- p.Ser219Leu Single submitter
- p.Thr128Met Single submitter ⚠
- p.Thr217Arg Single submitter ⚠
- p.Thr226Met Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val48Ile Single submitter ⚠