ELMOD1 — 42 ClinVar variants
All ClinVar germline ELMOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Likely benign · 40 Uncertain significance
Full ELMOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELMOD1 p.Ala117Thr Uncertain significance Single submitter
- ELMOD1 p.Ala231Pro Uncertain significance Single submitter
- ELMOD1 p.Ala326Thr Uncertain significance Single submitter
- ELMOD1 p.Ala76Thr Uncertain significance Single submitter
- ELMOD1 p.Arg123Leu Uncertain significance Single submitter
- ELMOD1 p.Arg154Trp Uncertain significance Single submitter
- ELMOD1 p.Arg39Trp Uncertain significance Single submitter
- ELMOD1 p.Asn262Ser Uncertain significance Single submitter
- ELMOD1 p.Asp292Gly Uncertain significance Single submitter
- ELMOD1 p.Asp60Asn Uncertain significance Single submitter
- ELMOD1 p.Asp60Gly Uncertain significance Single submitter
- ELMOD1 p.Asp75Asn Uncertain significance Single submitter
- ELMOD1 p.Asp75Glu Uncertain significance Single submitter
- ELMOD1 p.Cys17Gly Uncertain significance Single submitter
- ELMOD1 p.Glu135Lys Uncertain significance Single submitter
- ELMOD1 p.His134Pro Uncertain significance Single submitter
- ELMOD1 p.His282Arg Uncertain significance Single submitter
- ELMOD1 p.His282Gln Uncertain significance Single submitter
- ELMOD1 p.His285Arg Uncertain significance Single submitter
- ELMOD1 p.Ile289Val Uncertain significance Single submitter
- ELMOD1 p.Leu203Phe Uncertain significance Single submitter
- ELMOD1 p.Leu314Arg Uncertain significance Single submitter
- ELMOD1 p.Leu98Arg Uncertain significance Single submitter
- ELMOD1 p.Met7Thr Uncertain significance Single submitter
- ELMOD1 p.Ser71Asn Uncertain significance Single submitter
- ELMOD1 p.Val11Leu Uncertain significance Single submitter
- ELMOD1 p.Val27Ile Uncertain significance Single submitter
- ELMOD1 p.Val302Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ELMOD1 p.Ala188Val Uncertain significance Single submitter
- ELMOD1 p.Ala221Val Uncertain significance Single submitter
- ELMOD1 p.Arg113Thr Uncertain significance Single submitter
- ELMOD1 p.Arg301His Uncertain significance Single submitter
- ELMOD1 p.Arg307Leu Uncertain significance Single submitter
- ELMOD1 p.Arg34Ser Uncertain significance Single submitter
- ELMOD1 p.Asp245Glu Uncertain significance Single submitter
- ELMOD1 p.Leu250Ile Uncertain significance Single submitter
- ELMOD1 p.Lys225Thr Uncertain significance Single submitter
- ELMOD1 p.Phe19Ser Uncertain significance Single submitter
- ELMOD1 p.Pro205Leu Uncertain significance Single submitter
- ELMOD1 p.Pro46Leu Uncertain significance Single submitter
All ELMOD1 variants
Likely benign 2
- p.Lys18= Single submitter
- p.Val94Ile Single submitter
Uncertain significance 40
- p.Ala117Thr Single submitter ⚠
- p.Ala188Val Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala231Pro Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg113Thr Single submitter ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg307Leu Single submitter ⚠
- p.Arg34Ser Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Asn262Ser Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp292Gly Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Asp60Gly Single submitter ⚠
- p.Asp75Asn Single submitter ⚠
- p.Asp75Glu Single submitter ⚠
- p.Cys17Gly Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.His134Pro Single submitter ⚠
- p.His282Arg Single submitter ⚠
- p.His282Gln Single submitter ⚠
- p.His285Arg Single submitter ⚠
- p.Ile289Val Single submitter ⚠
- p.Leu203Phe Single submitter ⚠
- p.Leu250Ile Single submitter ⚠
- p.Leu314Arg Single submitter ⚠
- p.Leu98Arg Single submitter ⚠
- p.Lys225Thr Single submitter ⚠
- p.Met7Thr Single submitter ⚠
- p.Phe19Ser Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Ser71Asn Single submitter ⚠
- p.Val11Leu Single submitter ⚠
- p.Val27Ile Single submitter ⚠
- p.Val302Met Single submitter ⚠