ELSPBP1 — 28 ClinVar variants
All ClinVar germline ELSPBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
28 Uncertain significance
Full ELSPBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- ELSPBP1 p.Ala57Val Uncertain significance Single submitter
- ELSPBP1 p.Arg3Gln Uncertain significance Single submitter
- ELSPBP1 p.Arg73His Uncertain significance Single submitter
- ELSPBP1 p.Asn149Lys Uncertain significance Single submitter
- ELSPBP1 p.Gln111Arg Uncertain significance Single submitter
- ELSPBP1 p.Gly179Val Uncertain significance Single submitter
- ELSPBP1 p.Gly23Arg Uncertain significance Single submitter
- ELSPBP1 p.Gly24Val Uncertain significance Single submitter
- ELSPBP1 p.Leu95Phe Uncertain significance Single submitter
- ELSPBP1 p.Lys150Glu Uncertain significance Single submitter
- ELSPBP1 p.Lys202Arg Uncertain significance Single submitter
- ELSPBP1 p.Met144Thr Uncertain significance Single submitter
- ELSPBP1 p.Met144Val Uncertain significance Single submitter
- ELSPBP1 p.Phe186Ser Uncertain significance Single submitter
- ELSPBP1 p.Pro132Thr Uncertain significance Single submitter
- ELSPBP1 p.Pro72Ser Uncertain significance Single submitter
- ELSPBP1 p.Ser97Arg Uncertain significance Single submitter
- ELSPBP1 p.Thr13Ala Uncertain significance Single submitter
- ELSPBP1 p.Thr13Asn Uncertain significance Single submitter
- ELSPBP1 p.Trp165Arg Uncertain significance Single submitter
- ELSPBP1 p.Tyr19Cys Uncertain significance Single submitter
- ELSPBP1 p.Val140Leu Uncertain significance Single submitter
- ELSPBP1 p.Val39Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ELSPBP1 variants
Uncertain significance 28
- p.Ala57Val Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn149Lys Single submitter ⚠
- p.Gln111Arg Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly200Glu Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu95Phe Single submitter ⚠
- p.Lys150Glu Single submitter ⚠
- p.Lys202Arg Single submitter ⚠
- p.Met144Thr Single submitter ⚠
- p.Met144Val Single submitter ⚠
- p.Phe186Ser Single submitter ⚠
- p.Pro132Thr Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser97Arg Single submitter ⚠
- p.Thr103Ile Single submitter ⚠
- p.Thr13Ala Single submitter ⚠
- p.Thr13Asn Single submitter ⚠
- p.Thr156Lys Single submitter ⚠
- p.Trp165Arg Single submitter ⚠
- p.Tyr19Cys Single submitter ⚠
- p.Val140Leu Single submitter ⚠
- p.Val39Leu Single submitter ⚠