OMG — 53 ClinVar variants
All ClinVar germline OMG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 1 Benign/Likely benign · 11 Likely benign · 40 Uncertain significance
Full OMG 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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OMG p.Asn201Ser Uncertain significance Single submitter
- OMG p.Gln233His Uncertain significance Single submitter
- OMG p.Gln284His Uncertain significance Single submitter
- OMG p.Glu149Lys Uncertain significance Single submitter
- OMG p.Glu336Lys Uncertain significance Single submitter
- OMG p.Gly385Asp Uncertain significance Single submitter
- OMG p.His264Arg Uncertain significance Single submitter
- OMG p.His346Arg Uncertain significance Single submitter
- OMG p.His346Tyr Uncertain significance Single submitter
- OMG p.His356Asp Uncertain significance Single submitter
- OMG p.Ile235Val Uncertain significance Single submitter
- OMG p.Leu238Ser Uncertain significance Single submitter
- OMG p.Lys302Arg Uncertain significance Single submitter
- OMG p.Lys423Gln Uncertain significance Single submitter
- OMG p.Met104Ile Uncertain significance Single submitter
- OMG p.Met243Val Uncertain significance Single submitter
- OMG p.Met378Thr Uncertain significance Single submitter
- OMG p.Met393Thr Uncertain significance Single submitter
- OMG p.Pro333Ser Uncertain significance Single submitter
- OMG p.Ser117Ala Uncertain significance Single submitter
- OMG p.Ser155Gly Uncertain significance Single submitter
- OMG p.Ser339Thr Uncertain significance Single submitter
- OMG p.Thr191Ala Uncertain significance Single submitter
- OMG p.Thr309Ile Uncertain significance Single submitter
- OMG p.Thr312Ala Uncertain significance Single submitter
- OMG p.Thr365Arg Uncertain significance Single submitter
- OMG p.Thr379Asn Uncertain significance Single submitter
- OMG p.Thr383Ile Uncertain significance Single submitter
- OMG p.Thr399Ile Uncertain significance Single submitter
- OMG p.Thr48Ile Uncertain significance Single submitter
- OMG p.Tyr267His Uncertain significance Single submitter
- OMG p.Val411Ala Uncertain significance Single submitter
- OMG p.Val440Gly Uncertain significance Single submitter
- OMG p.Val440Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All OMG variants
Benign 1
- p.Gly21Asp No assertion criteria OMG-related disorder
Benign/Likely benign 1
- p.Ser370= Multiple submitters
Likely benign 11
- p.Thr408Ala Multiple submitters hereditary neoplastic syndrome
- p.Val435Ala Multiple submitters
- p.Leu93= Single submitter
- p.Leu97= Single submitter
- p.Pro298Ser Single submitter
- p.Thr33= Single submitter
- p.Trp422Cys Single submitter
- p.Tyr77= Single submitter
- p.Val411= Single submitter
- p.Ser417= No assertion criteria OMG-related disorder
- p.Val172= No assertion criteria OMG-related disorder
Uncertain significance 40
- p.Arg37Trp Single submitter ⚠
- p.Asn200Lys Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Gln233His Single submitter ⚠
- p.Gln284His Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Gly385Asp Single submitter ⚠
- p.His264Arg Single submitter ⚠
- p.His346Arg Single submitter ⚠
- p.His346Tyr Single submitter ⚠
- p.His356Asp Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Leu238Ser Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Lys302Arg Single submitter ⚠
- p.Lys423Gln Single submitter ⚠
- p.Met104Ile Single submitter ⚠
- p.Met243Val Single submitter ⚠
- p.Met378Thr Single submitter ⚠
- p.Met393Thr Single submitter ⚠
- p.Pro333Ser Single submitter ⚠
- p.Ser117Ala Single submitter ⚠
- p.Ser154Arg Single submitter ⚠
- p.Ser155Gly Single submitter ⚠
- p.Ser339Thr Single submitter ⚠
- p.Ser397Arg Single submitter
- p.Thr191Ala Single submitter ⚠
- p.Thr309Ile Single submitter ⚠
- p.Thr312Ala Single submitter ⚠
- p.Thr365Arg Single submitter ⚠
- p.Thr379Asn Single submitter ⚠
- p.Thr383Ile Single submitter ⚠
- p.Thr399Ile Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Tyr237His Single submitter ⚠
- p.Tyr267His Single submitter ⚠
- p.Val411Ala Single submitter ⚠
- p.Val440Gly Single submitter ⚠
- p.Val440Leu Single submitter ⚠