ELMO1 — 58 ClinVar variants
All ClinVar germline ELMO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Benign · 57 Uncertain significance
Full ELMO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELMO1 p.Ala179Val Uncertain significance Single submitter
- ELMO1 p.Ala99Val Uncertain significance Single submitter
- ELMO1 p.Arg272Leu Uncertain significance Single submitter
- ELMO1 p.Arg328Leu Uncertain significance Single submitter
- ELMO1 p.Arg415His Uncertain significance Single submitter
- ELMO1 p.Arg683Gln Uncertain significance Single submitter
- ELMO1 p.Asn566Ser Uncertain significance Single submitter
- ELMO1 p.Asn58Tyr Uncertain significance Single submitter
- ELMO1 p.Asp440Asn Uncertain significance Single submitter
- ELMO1 p.Asp658Gly Uncertain significance Single submitter
- ELMO1 p.Gln487Lys Uncertain significance Single submitter
- ELMO1 p.Glu432Lys Uncertain significance Single submitter
- ELMO1 p.Gly136Ser Uncertain significance Single submitter
- ELMO1 p.Gly589Arg Uncertain significance Single submitter
- ELMO1 p.His168Arg Uncertain significance Single submitter
- ELMO1 p.His278Asn Uncertain significance Single submitter
- ELMO1 p.His442Tyr Uncertain significance Single submitter
- ELMO1 p.His46Tyr Uncertain significance Single submitter
- ELMO1 p.Ile126Val Uncertain significance Single submitter
- ELMO1 p.Ile244Thr Uncertain significance Single submitter
- ELMO1 p.Ile323Val Uncertain significance Single submitter
- ELMO1 p.Ile533Val Uncertain significance Single submitter
- ELMO1 p.Ile92Thr Uncertain significance Single submitter
- ELMO1 p.Leu379Val Uncertain significance Single submitter
- ELMO1 p.Leu400Pro Uncertain significance Single submitter
- ELMO1 p.Lys468Arg Uncertain significance Single submitter
- ELMO1 p.Met309Thr Uncertain significance Single submitter
- ELMO1 p.Met351Val Uncertain significance Single submitter
- ELMO1 p.Met369Val Uncertain significance Single submitter
- ELMO1 p.Pro412Ser Uncertain significance Single submitter
- ELMO1 p.Pro600Ser Uncertain significance Single submitter
- ELMO1 p.Pro609Ser Uncertain significance Single submitter
- ELMO1 p.Ser127Phe Uncertain significance Single submitter
- ELMO1 p.Ser196Leu Uncertain significance Single submitter
- ELMO1 p.Thr175Ser Uncertain significance Single submitter
- ELMO1 p.Thr277Ser Uncertain significance Single submitter
- ELMO1 p.Thr493Lys Uncertain significance Single submitter
- ELMO1 p.Thr666Met Uncertain significance Single submitter
- ELMO1 p.Thr73Ser Uncertain significance Single submitter
- ELMO1 p.Val178Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ELMO1 p.Ala249Gly Uncertain significance Single submitter
- ELMO1 p.Ala263Val Uncertain significance Single submitter
- ELMO1 p.Arg348His Uncertain significance Single submitter
- ELMO1 p.Arg531His Uncertain significance Single submitter
- ELMO1 p.Arg683Trp Uncertain significance Single submitter
- ELMO1 p.Asp314Glu Uncertain significance Single submitter
- ELMO1 p.Asp527Asn Uncertain significance Single submitter
- ELMO1 p.Glu238Lys Uncertain significance Single submitter
- ELMO1 p.Glu306Gln Uncertain significance Single submitter
- ELMO1 p.Gly343Asp Uncertain significance Single submitter
- ELMO1 p.Ile121Thr Uncertain significance Single submitter
- ELMO1 p.Ile706Val Uncertain significance Single submitter
- ELMO1 p.Met22Thr Uncertain significance Single submitter
- ELMO1 p.Met481Thr Uncertain significance Single submitter
- ELMO1 p.Thr301Ile Uncertain significance Single submitter
All ELMO1 variants
Benign 1
- c.780+8G>C Single submitter
Uncertain significance 57
- p.Ala179Val Single submitter ⚠
- p.Ala249Gly Single submitter ⚠
- p.Ala263Val Single submitter ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg272Leu Single submitter ⚠
- p.Arg328Leu Single submitter ⚠
- p.Arg348His Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg531His Single submitter ⚠
- p.Arg683Gln Single submitter ⚠
- p.Arg683Trp Single submitter ⚠
- p.Asn566Ser Single submitter ⚠
- p.Asn58Tyr Single submitter ⚠
- p.Asp314Glu Single submitter ⚠
- p.Asp440Asn Single submitter ⚠
- p.Asp527Asn Single submitter ⚠
- p.Asp658Gly Single submitter ⚠
- p.Gln487Lys Single submitter ⚠
- p.Glu238Lys Single submitter ⚠
- p.Glu306Gln Single submitter ⚠
- p.Glu432Lys Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly343Asp Single submitter ⚠
- p.Gly589Arg Single submitter ⚠
- p.His168Arg Single submitter ⚠
- p.His278Asn Single submitter ⚠
- p.His442Tyr Single submitter ⚠
- p.His46Tyr Single submitter ⚠
- p.Ile121Thr Single submitter ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile244Thr Single submitter ⚠
- p.Ile323Val Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Ile706Val Single submitter ⚠
- p.Ile92Thr Single submitter ⚠
- p.Leu379Val Single submitter ⚠
- p.Leu400Pro Single submitter ⚠
- p.Lys468Arg Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met309Thr Single submitter ⚠
- p.Met351Val Single submitter ⚠
- p.Met369Val Single submitter ⚠
- p.Met481Thr Single submitter ⚠
- p.Pro412Ser Single submitter ⚠
- p.Pro600Ser Single submitter ⚠
- p.Pro609Ser Single submitter ⚠
- p.Ser127Phe Single submitter ⚠
- p.Ser196Leu Single submitter ⚠
- p.Thr130Met Single submitter
- p.Thr160Met Single submitter
- p.Thr175Ser Single submitter ⚠
- p.Thr277Ser Single submitter ⚠
- p.Thr301Ile Single submitter ⚠
- p.Thr493Lys Single submitter ⚠
- p.Thr666Met Single submitter ⚠
- p.Thr73Ser Single submitter ⚠
- p.Val178Met Single submitter ⚠