ELMO3 — 142 ClinVar variants
All ClinVar germline ELMO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
8 Likely benign · 134 Uncertain significance
Full ELMO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELMO3 p.Ala355Thr Uncertain significance Single submitter
- ELMO3 p.Ala378Thr Uncertain significance Single submitter
- ELMO3 p.Ala718Pro Uncertain significance Single submitter
- ELMO3 p.Arg105Lys Uncertain significance Single submitter
- ELMO3 p.Arg148Gly Uncertain significance Single submitter
- ELMO3 p.Arg309Gln Uncertain significance Single submitter
- ELMO3 p.Arg316His Uncertain significance Single submitter
- ELMO3 p.Arg336Cys Uncertain significance Single submitter
- ELMO3 p.Arg384Trp Uncertain significance Single submitter
- ELMO3 p.Arg392His Uncertain significance Single submitter
- ELMO3 p.Arg539Cys Uncertain significance Single submitter
- ELMO3 p.Arg612Gln Uncertain significance Single submitter
- ELMO3 p.Arg649Trp Uncertain significance Single submitter
- ELMO3 p.Arg66His Uncertain significance Single submitter
- ELMO3 p.Asn258Ser Uncertain significance Single submitter
- ELMO3 p.Asn64Ser Uncertain significance Single submitter
- ELMO3 p.Asp39Gly Uncertain significance Single submitter
- ELMO3 p.Asp465Asn Uncertain significance Single submitter
- ELMO3 p.Asp465Glu Uncertain significance Single submitter
- ELMO3 p.Cys38Tyr Uncertain significance Single submitter
- ELMO3 p.Cys444Arg Uncertain significance Single submitter
- ELMO3 p.Cys444Tyr Uncertain significance Single submitter
- ELMO3 p.Cys715Phe Uncertain significance Single submitter
- ELMO3 p.Gln225Leu Uncertain significance Single submitter
- ELMO3 p.Glu321Gln Uncertain significance Single submitter
- ELMO3 p.Glu413Asp Uncertain significance Single submitter
- ELMO3 p.Glu63Lys Uncertain significance Single submitter
- ELMO3 p.Glu697Lys Uncertain significance Single submitter
- ELMO3 p.Gly241Arg Uncertain significance Single submitter
- ELMO3 p.Gly364Asp Uncertain significance Single submitter
- ELMO3 p.Gly418Arg Uncertain significance Single submitter
- ELMO3 p.Ile10Thr Uncertain significance Single submitter
- ELMO3 p.Ile18Val Uncertain significance Single submitter
- ELMO3 p.Ile447Met Uncertain significance Single submitter
- ELMO3 p.Leu285Pro Uncertain significance Single submitter
- ELMO3 p.Leu479Arg Uncertain significance Single submitter
- ELMO3 p.Leu590Pro Uncertain significance Single submitter
- ELMO3 p.Leu603Val Uncertain significance Single submitter
- ELMO3 p.Lys395Glu Uncertain significance Single submitter
- ELMO3 p.Lys9Glu Uncertain significance Single submitter
- ELMO3 p.Met114Val Uncertain significance Single submitter
- ELMO3 p.Met223Ile Uncertain significance Single submitter
- ELMO3 p.Met232Val Uncertain significance Single submitter
- ELMO3 p.Met250Ile Uncertain significance Single submitter
- ELMO3 p.Met250Leu Uncertain significance Single submitter
- ELMO3 p.Met297Ile Uncertain significance Single submitter
- ELMO3 p.Met532Thr Uncertain significance Single submitter
- ELMO3 p.Phe628Leu Uncertain significance Single submitter
- ELMO3 p.Pro29Leu Uncertain significance Single submitter
- ELMO3 p.Pro362Leu Uncertain significance Single submitter
- ELMO3 p.Pro483Arg Uncertain significance Single submitter
- ELMO3 p.Pro81Ala Uncertain significance Single submitter
- ELMO3 p.Ser332Gly Uncertain significance Single submitter
- ELMO3 p.Ser380Gly Uncertain significance Single submitter
- ELMO3 p.Ser716Gly Uncertain significance Single submitter
- ELMO3 p.Thr299Met Uncertain significance Single submitter
- ELMO3 p.Thr408Met Uncertain significance Single submitter
- ELMO3 p.Thr62Ile Uncertain significance Single submitter
- ELMO3 p.Trp161Gly Uncertain significance Single submitter
- ELMO3 p.Trp255Arg Uncertain significance Single submitter
- ELMO3 p.Tyr264Cys Uncertain significance Single submitter
- ELMO3 p.Val142Leu Uncertain significance Single submitter
- ELMO3 p.Val218Met Uncertain significance Single submitter
- ELMO3 p.Val314Ile Uncertain significance Single submitter
- ELMO3 p.Val361Met Uncertain significance Single submitter
- ELMO3 p.Val386Met Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
-
ELMO3 p.Val284Ile
Likely benign
Multiple submitters
Ullrich congenital muscular dystrophy 1A
- ELMO3 p.Ala103Ser Uncertain significance Single submitter
- ELMO3 p.Ala144Thr Uncertain significance Single submitter
- ELMO3 p.Ala149Thr Uncertain significance Single submitter
- ELMO3 p.Ala149Val Uncertain significance Single submitter
- ELMO3 p.Ala189Thr Uncertain significance Single submitter
- ELMO3 p.Ala2Thr Likely benign Single submitter
- ELMO3 p.Ala31Val Uncertain significance Single submitter
- ELMO3 p.Ala381Thr Uncertain significance Single submitter
- ELMO3 p.Arg123His Uncertain significance Single submitter
- ELMO3 p.Arg15Cys Uncertain significance Single submitter
- ELMO3 p.Arg247Cys Uncertain significance Single submitter
- ELMO3 p.Arg247His Uncertain significance Single submitter
- ELMO3 p.Arg260Cys Uncertain significance Single submitter
- ELMO3 p.Arg296Cys Uncertain significance Single submitter
- ELMO3 p.Arg345His Uncertain significance Single submitter
- ELMO3 p.Arg416Cys Uncertain significance Single submitter
- ELMO3 p.Arg477His Uncertain significance Single submitter
- ELMO3 p.Arg503Gln Uncertain significance Single submitter
- ELMO3 p.Arg524Gln Uncertain significance Single submitter
- ELMO3 p.Arg536His Uncertain significance Single submitter
- ELMO3 p.Arg542Cys Uncertain significance Single submitter
- ELMO3 p.Arg555Trp Uncertain significance Single submitter
- ELMO3 p.Arg58Gln Uncertain significance Single submitter
- ELMO3 p.Arg612Gly Uncertain significance Single submitter
- ELMO3 p.Arg612Trp Uncertain significance Single submitter
- ELMO3 p.Arg686Cys Uncertain significance Single submitter
- ELMO3 p.Asn124Ile Uncertain significance Single submitter
- ELMO3 p.Asn708Ser Uncertain significance Single submitter
- ELMO3 p.Asp252Asn Uncertain significance Single submitter
- ELMO3 p.Asp55Asn Uncertain significance Single submitter
- ELMO3 p.Gln221Glu Uncertain significance Single submitter
- ELMO3 p.Glu134Asp Uncertain significance Single submitter
- ELMO3 p.Glu277Lys Uncertain significance Single submitter
- ELMO3 p.Glu638Lys Uncertain significance Single submitter
- ELMO3 p.Glu669Lys Uncertain significance Single submitter
- ELMO3 p.Gly157Ser Uncertain significance Single submitter
- ELMO3 p.Gly605Ala Uncertain significance Single submitter
- ELMO3 p.His396Tyr Uncertain significance Single submitter
- ELMO3 p.His440Arg Uncertain significance Single submitter
- ELMO3 p.Leu126Phe Uncertain significance Single submitter
- ELMO3 p.Leu254Val Uncertain significance Single submitter
- ELMO3 p.Leu288Phe Uncertain significance Single submitter
- ELMO3 p.Leu372Phe Uncertain significance Single submitter
- ELMO3 p.Leu51Val Uncertain significance Single submitter
- ELMO3 p.Leu602Phe Uncertain significance Single submitter
- ELMO3 p.Leu690Val Uncertain significance Single submitter
- ELMO3 p.Pro295Leu Uncertain significance Single submitter
- ELMO3 p.Pro430Ser Uncertain significance Single submitter
- ELMO3 p.Pro81Ser Uncertain significance Single submitter
- ELMO3 p.Ser112Leu Uncertain significance Single submitter
- ELMO3 p.Ser146Arg Uncertain significance Single submitter
- ELMO3 p.Ser160Phe Uncertain significance Single submitter
- ELMO3 p.Thr586Ile Uncertain significance Single submitter
- ELMO3 p.Val120Ile Uncertain significance Single submitter
- ELMO3 p.Val185Met Uncertain significance Single submitter
- ELMO3 p.Val693Met Uncertain significance Single submitter
- ELMO3 p.Val7Ala Uncertain significance Single submitter
- ELMO3 p.Val8Ala Uncertain significance Single submitter
All ELMO3 variants
Likely benign 8
- p.Val284Ile Multiple submitters Ullrich congenital muscular dystrophy 1A ⚠
- c.-119C>G Single submitter
- c.-69G>A Single submitter
- p.Ala2Thr Single submitter ⚠
- p.Arg416His Single submitter
- p.Arg634His Single submitter
- p.Met289Thr Single submitter
- p.Ser327= Single submitter
Uncertain significance 134
- c.1780+1G>A Single submitter
- c.-11C>T Single submitter
- c.-123A>G Single submitter
- c.-14G>T Single submitter
- c.-28G>C Single submitter
- c.-50G>A Single submitter
- c.-77G>A Single submitter
- c.-78G>A Single submitter
- c.-79G>C Single submitter
- c.-89C>T Single submitter
- c.-98G>A Single submitter
- p.Ala103Ser Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala149Val Single submitter ⚠
- p.Ala189Thr Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala355Thr Single submitter ⚠
- p.Ala378Thr Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala718Pro Single submitter ⚠
- p.Arg105Lys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg148Gly Single submitter ⚠
- p.Arg15Cys Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg296Cys Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg316His Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg345His Single submitter ⚠
- p.Arg384Trp Single submitter ⚠
- p.Arg392His Single submitter ⚠
- p.Arg416Cys Single submitter ⚠
- p.Arg477His Single submitter ⚠
- p.Arg503Gln Single submitter ⚠
- p.Arg524Gln Single submitter ⚠
- p.Arg536His Single submitter ⚠
- p.Arg539Cys Single submitter ⚠
- p.Arg542Cys Single submitter ⚠
- p.Arg555Trp Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg612Gln Single submitter ⚠
- p.Arg612Gly Single submitter ⚠
- p.Arg612Trp Single submitter ⚠
- p.Arg649Trp Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Arg686Cys Single submitter ⚠
- p.Asn124Ile Single submitter ⚠
- p.Asn258Ser Single submitter ⚠
- p.Asn64Ser Single submitter ⚠
- p.Asn708Ser Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Asp465Asn Single submitter ⚠
- p.Asp465Glu Single submitter ⚠
- p.Asp55Asn Single submitter ⚠
- p.Cys38Tyr Single submitter ⚠
- p.Cys444Arg Single submitter ⚠
- p.Cys444Tyr Single submitter ⚠
- p.Cys715Phe Single submitter ⚠
- p.Gln221Glu Single submitter ⚠
- p.Gln225Leu Single submitter ⚠
- p.Glu134Asp Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu321Gln Single submitter ⚠
- p.Glu413Asp Single submitter ⚠
- p.Glu638Lys Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Glu669Lys Single submitter ⚠
- p.Glu697Lys Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly241Arg Single submitter ⚠
- p.Gly364Asp Single submitter ⚠
- p.Gly418Arg Single submitter ⚠
- p.Gly605Ala Single submitter ⚠
- p.His396Tyr Single submitter ⚠
- p.His440Arg Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Ile18Val Single submitter ⚠
- p.Ile447Met Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Leu285Pro Single submitter ⚠
- p.Leu288Phe Single submitter ⚠
- p.Leu372Phe Single submitter ⚠
- p.Leu479Arg Single submitter ⚠
- p.Leu51Val Single submitter ⚠
- p.Leu590Pro Single submitter ⚠
- p.Leu602Phe Single submitter ⚠
- p.Leu603Val Single submitter ⚠
- p.Leu690Val Single submitter ⚠
- p.Lys395Glu Single submitter ⚠
- p.Lys9Glu Single submitter ⚠
- p.Met114Val Single submitter ⚠
- p.Met223Ile Single submitter ⚠
- p.Met232Val Single submitter ⚠
- p.Met250Ile Single submitter ⚠
- p.Met250Leu Single submitter ⚠
- p.Met297Ile Single submitter ⚠
- p.Met532Thr Single submitter ⚠
- p.Phe628Leu Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro362Leu Single submitter ⚠
- p.Pro430Ser Single submitter ⚠
- p.Pro483Arg Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser112Leu Single submitter ⚠
- p.Ser146Arg Single submitter ⚠
- p.Ser160Phe Single submitter ⚠
- p.Ser332Gly Single submitter ⚠
- p.Ser380Gly Single submitter ⚠
- p.Ser716Gly Single submitter ⚠
- p.Thr299Met Single submitter ⚠
- p.Thr408Met Single submitter ⚠
- p.Thr586Ile Single submitter ⚠
- p.Thr62Ile Single submitter ⚠
- p.Trp161Gly Single submitter ⚠
- p.Trp255Arg Single submitter ⚠
- p.Tyr264Cys Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val142Leu Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val218Met Single submitter ⚠
- p.Val314Ile Single submitter ⚠
- p.Val361Met Single submitter ⚠
- p.Val386Met Single submitter ⚠
- p.Val693Met Single submitter ⚠
- p.Val7Ala Single submitter ⚠
- p.Val8Ala Single submitter ⚠