ELMOD2 — 51 ClinVar variants
All ClinVar germline ELMOD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
9 Benign · 4 Likely benign · 38 Uncertain significance
Full ELMOD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELMOD2 p.Arg167Ser Uncertain significance Single submitter
- ELMOD2 p.Asn210Ser Uncertain significance Single submitter
- ELMOD2 p.Asp161Asn Uncertain significance Single submitter
- ELMOD2 p.Asp88Glu Uncertain significance Single submitter
- ELMOD2 p.Cys94Tyr Uncertain significance Single submitter
- ELMOD2 p.Glu222Gly Uncertain significance Single submitter
- ELMOD2 p.Glu239Asp Uncertain significance Single submitter
-
ELMOD2 p.Gly234Asp
Uncertain significance
Single submitter
ELMOD2-related disorder
- ELMOD2 p.His240Pro Uncertain significance Single submitter
- ELMOD2 p.His45Gln Uncertain significance Single submitter
- ELMOD2 p.Leu100Pro Uncertain significance Single submitter
- ELMOD2 p.Lys254Arg Uncertain significance Single submitter
- ELMOD2 p.Lys81Asn Uncertain significance Single submitter
- ELMOD2 p.Met139Ile Uncertain significance Single submitter
- ELMOD2 p.Met18Ile Uncertain significance Single submitter
- ELMOD2 p.Met265Ile Uncertain significance Single submitter
- ELMOD2 p.Met265Thr Uncertain significance Single submitter
- ELMOD2 p.Pro119Gln Uncertain significance Single submitter
- ELMOD2 p.Pro233Arg Uncertain significance Single submitter
- ELMOD2 p.Pro85Ala Uncertain significance Single submitter
- ELMOD2 p.Ser217Gly Uncertain significance Single submitter
- ELMOD2 p.Ser221Thr Uncertain significance Single submitter
- ELMOD2 p.Thr185Pro Uncertain significance Single submitter
- ELMOD2 p.Tyr245Asp Uncertain significance Single submitter
- ELMOD2 p.Val112Ile Uncertain significance Single submitter
- ELMOD2 p.Val115Glu Uncertain significance Single submitter
- ELMOD2 p.Val115Leu Uncertain significance Single submitter
- ELMOD2 p.Val249Ile Uncertain significance Single submitter
- ELMOD2 p.Val293Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ELMOD2 p.Asn183Ile Uncertain significance Single submitter
- ELMOD2 p.Asn84Lys Uncertain significance Single submitter
- ELMOD2 p.Gly27Glu Uncertain significance Single submitter
- ELMOD2 p.His227Arg Uncertain significance Single submitter
- ELMOD2 p.His227Pro Uncertain significance Single submitter
- ELMOD2 p.Ile47Met Uncertain significance Single submitter
- ELMOD2 p.Lys292Glu Uncertain significance Single submitter
- ELMOD2 p.Ser68Gly Uncertain significance Single submitter
- ELMOD2 p.Thr141Met Uncertain significance Single submitter
-
ELMOD2 p.Lys225Arg
Likely benign
No assertion criteria
long QT syndrome
All ELMOD2 variants
Benign 9
- c.142+43G>T Multiple submitters
- c.270-81T>G Multiple submitters
- c.-9-294A>G Multiple submitters
- p.Lys143Thr Multiple submitters
- c.399+4A>C Single submitter
- c.400-152A>T Single submitter
- c.400-154A>G Single submitter
- c.533+167T>C Single submitter
- c.*9C>T Single submitter
Likely benign 4
- p.Val39Gly Multiple submitters
- p.Gln126= No assertion criteria ELMOD2-related disorder
- p.Lys225Arg No assertion criteria long QT syndrome ⚠
- p.Ser221Asn No assertion criteria ELMOD2-related disorder
Uncertain significance 38
- p.Arg167Ser Single submitter ⚠
- p.Asn183Ile Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn84Lys Single submitter ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp88Glu Single submitter ⚠
- p.Cys94Tyr Single submitter ⚠
- p.Glu222Gly Single submitter ⚠
- p.Glu239Asp Single submitter ⚠
- p.Gly234Asp Single submitter ELMOD2-related disorder ⚠
- p.Gly27Glu Single submitter ⚠
- p.His227Arg Single submitter ⚠
- p.His227Pro Single submitter ⚠
- p.His240Pro Single submitter ⚠
- p.His45Gln Single submitter ⚠
- p.Ile47Met Single submitter ⚠
- p.Leu100Pro Single submitter ⚠
- p.Lys254Arg Single submitter ⚠
- p.Lys292Glu Single submitter ⚠
- p.Lys81Asn Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met18Ile Single submitter ⚠
- p.Met265Ile Single submitter ⚠
- p.Met265Thr Single submitter ⚠
- p.Pro119Gln Single submitter ⚠
- p.Pro233Arg Single submitter ⚠
- p.Pro85Ala Single submitter ⚠
- p.Ser217Gly Single submitter ⚠
- p.Ser221Thr Single submitter ⚠
- p.Ser68Gly Single submitter ⚠
- p.Thr141Met Single submitter ⚠
- p.Thr185Pro Single submitter ⚠
- p.Tyr245Asp Single submitter ⚠
- p.Val112Ile Single submitter ⚠
- p.Val115Glu Single submitter ⚠
- p.Val115Leu Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val293Leu Single submitter ⚠