ORMDL3 — 12 ClinVar variants
All ClinVar germline ORMDL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
12 Uncertain significance
Full ORMDL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ORMDL3 p.Glu9Lys Uncertain significance Single submitter
- ORMDL3 p.Gly21Ser Uncertain significance Single submitter
- ORMDL3 p.His34Tyr Uncertain significance Single submitter
- ORMDL3 p.Ile147Val Uncertain significance Single submitter
- ORMDL3 p.Pro41Leu Uncertain significance Single submitter
- ORMDL3 p.Ser25Pro Uncertain significance Single submitter
- ORMDL3 p.Thr105Ser Uncertain significance Single submitter
- ORMDL3 p.Thr117Pro Uncertain significance Single submitter
- ORMDL3 p.Val129Met Uncertain significance Single submitter
- ORMDL3 p.Val36Met Uncertain significance Single submitter
All ORMDL3 variants
Uncertain significance 12
- p.Arg15Trp Single submitter
- p.Glu9Lys Single submitter ⚠
- p.Gly21Ser Single submitter ⚠
- p.His34Tyr Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Ser25Phe Single submitter
- p.Ser25Pro Single submitter ⚠
- p.Thr105Ser Single submitter ⚠
- p.Thr117Pro Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val36Met Single submitter ⚠