EI24 — 20 ClinVar variants
All ClinVar germline EI24 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Likely pathogenic · 19 Uncertain significance
Full EI24 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EI24 p.Ala45Thr Uncertain significance Single submitter
- EI24 p.Arg14Lys Uncertain significance Single submitter
- EI24 p.Arg44Lys Uncertain significance Single submitter
- EI24 p.Arg66Cys Uncertain significance Single submitter
- EI24 p.Arg66His Uncertain significance Single submitter
- EI24 p.Glu58Asp Uncertain significance Single submitter
- EI24 p.Ile26Val Uncertain significance Single submitter
- EI24 p.Leu205Phe Uncertain significance Single submitter
- EI24 p.Met174Leu Uncertain significance Single submitter
- EI24 p.Ser116Leu Uncertain significance Single submitter
- EI24 p.Trp83Arg Uncertain significance Single submitter
- EI24 p.Val156Ile Uncertain significance Single submitter
- EI24 p.Val167Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EI24 variants
Likely pathogenic 1
- p.Pro248Ser No assertion criteria intellectual disability
Uncertain significance 19
- p.Ala45Thr Single submitter ⚠
- p.Arg14Lys Single submitter ⚠
- p.Arg44Lys Single submitter ⚠
- p.Arg66Cys Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Gln201Arg Single submitter ⚠
- p.Glu58Asp Single submitter ⚠
- p.Gly200Ser Single submitter
- p.Ile26Val Single submitter ⚠
- p.Leu183Ile Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu86Phe Single submitter ⚠
- p.Met174Leu Single submitter ⚠
- p.Ser116Leu Single submitter ⚠
- p.Trp83Arg Single submitter ⚠
- p.Val140Met Single submitter ⚠
- p.Val156Glu Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val167Ile Single submitter ⚠