XBP1 — 33 ClinVar variants
All ClinVar germline XBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
12 Likely benign · 21 Uncertain significance
Full XBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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.
- XBP1 p.Ala141Thr Uncertain significance Single submitter
- XBP1 p.Ala245= Uncertain significance Single submitter
- XBP1 p.Gln131Glu Uncertain significance Single submitter
- XBP1 p.Glu115Gln Uncertain significance Single submitter
- XBP1 p.Glu147Ala Uncertain significance Single submitter
- XBP1 p.Glu220Val Uncertain significance Single submitter
- XBP1 p.Gly183= Uncertain significance Single submitter
- XBP1 p.His124Arg Uncertain significance Single submitter
- XBP1 p.Leu195= Uncertain significance Single submitter
- XBP1 p.Leu218Gln Uncertain significance Single submitter
- XBP1 p.Pro215= Uncertain significance Single submitter
- XBP1 p.Pro233Arg Uncertain significance Single submitter
- XBP1 p.Ser188= Uncertain significance Single submitter
- XBP1 p.Thr242Met Uncertain significance Single submitter
- XBP1 p.Tyr225Ser Uncertain significance Single submitter
- XBP1 p.Val128Gly Uncertain significance Single submitter
- XBP1 p.Val155Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All XBP1 variants
Likely benign 12
- c.453+7C>A Single submitter
- p.Ala144Thr Single submitter
- p.Ala216Thr Single submitter
- p.Asp186Asn Single submitter
- p.Glu220Lys Single submitter
- p.Gly184Ser Single submitter
- p.Lys209Arg Single submitter
- p.Met180Val Single submitter
- p.Pro174Ala Single submitter
- p.Pro179Ser Single submitter
- p.Ser164= Single submitter
- p.Val171Ile Single submitter
Uncertain significance 21
- c.573+1G>T Single submitter major affective disorder 7
- p.Ala141Thr Single submitter ⚠
- p.Ala245= Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Gln131Glu Single submitter ⚠
- p.Glu115Gln Single submitter ⚠
- p.Glu147Ala Single submitter ⚠
- p.Glu220Val Single submitter ⚠
- p.Gly160Arg Single submitter ⚠
- p.Gly183= Single submitter ⚠
- p.His124Arg Single submitter ⚠
- p.Leu195= Single submitter ⚠
- p.Leu218Gln Single submitter ⚠
- p.Met95Val Single submitter ⚠
- p.Pro215= Single submitter ⚠
- p.Pro233Arg Single submitter ⚠
- p.Ser188= Single submitter ⚠
- p.Thr242Met Single submitter ⚠
- p.Tyr225Ser Single submitter ⚠
- p.Val128Gly Single submitter ⚠
- p.Val155Met Single submitter ⚠