OMD — 55 ClinVar variants
All ClinVar germline OMD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
2 Likely benign · 53 Uncertain significance
Full OMD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OMD p.Arg366Gln Uncertain significance Single submitter
- OMD p.Asn369Thr Uncertain significance Single submitter
- OMD p.Asp30Asn Uncertain significance Single submitter
- OMD p.Asp32His Uncertain significance Single submitter
- OMD p.Asp394Asn Uncertain significance Single submitter
- OMD p.Cys353Ser Uncertain significance Single submitter
- OMD p.Cys68Arg Uncertain significance Single submitter
- OMD p.Gln47Pro Uncertain significance Single submitter
- OMD p.Glu29Asp Uncertain significance Single submitter
- OMD p.Glu401Gly Uncertain significance Single submitter
- OMD p.Gly363Asp Uncertain significance Single submitter
- OMD p.Gly410Arg Uncertain significance Single submitter
- OMD p.Gly61Val Uncertain significance Single submitter
- OMD p.His150Arg Uncertain significance Single submitter
- OMD p.His260Arg Uncertain significance Single submitter
- OMD p.His289Gln Uncertain significance Single submitter
- OMD p.His356Gln Uncertain significance Single submitter
- OMD p.His358Arg Uncertain significance Single submitter
- OMD p.His358Tyr Uncertain significance Single submitter
- OMD p.Ile276Thr Uncertain significance Single submitter
- OMD p.Ile282Val Uncertain significance Single submitter
- OMD p.Leu198Pro Uncertain significance Single submitter
- OMD p.Leu240Ser Uncertain significance Single submitter
- OMD p.Leu307Pro Uncertain significance Single submitter
- OMD p.Met182Thr Uncertain significance Single submitter
- OMD p.Met227Val Uncertain significance Single submitter
- OMD p.Met236Arg Uncertain significance Single submitter
- OMD p.Met320Leu Uncertain significance Single submitter
- OMD p.Pro396Leu Uncertain significance Single submitter
- OMD p.Ser402Arg Uncertain significance Single submitter
- OMD p.Thr261Ser Uncertain significance Single submitter
- OMD p.Thr368Ala Uncertain significance Single submitter
- OMD p.Tyr252His Uncertain significance Single submitter
- OMD p.Tyr362His Uncertain significance Single submitter
- OMD p.Val49Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- OMD p.Arg336His Uncertain significance Single submitter
- OMD p.Arg81Cys Uncertain significance Single submitter
- OMD p.Asn101Ser Uncertain significance Single submitter
- OMD p.Asn172Ser Uncertain significance Single submitter
- OMD p.Asn187Asp Uncertain significance Single submitter
- OMD p.Gln145Pro Uncertain significance Single submitter
- OMD p.Glu212Gly Uncertain significance Single submitter
- OMD p.Glu284Gln Uncertain significance Single submitter
- OMD p.Ile132Thr Uncertain significance Single submitter
- OMD p.Ile373Thr Uncertain significance Single submitter
- OMD p.Leu191Phe Uncertain significance Single submitter
- OMD p.Leu96Phe Uncertain significance Single submitter
- OMD p.Phe72Leu Uncertain significance Single submitter
- OMD p.Pro257Leu Uncertain significance Single submitter
- OMD p.Pro90Leu Uncertain significance Single submitter
- OMD p.Ser201Phe Uncertain significance Single submitter
- OMD p.Ser246Tyr Uncertain significance Single submitter
- OMD p.Tyr417Cys Uncertain significance Single submitter
All OMD variants
Likely benign 2
- p.Ile7Val Single submitter
- p.Met315Ile Single submitter
Uncertain significance 53
- p.Arg336His Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Asn101Ser Single submitter ⚠
- p.Asn172Ser Single submitter ⚠
- p.Asn187Asp Single submitter ⚠
- p.Asn369Thr Single submitter ⚠
- p.Asp30Asn Single submitter ⚠
- p.Asp32His Single submitter ⚠
- p.Asp394Asn Single submitter ⚠
- p.Cys353Ser Single submitter ⚠
- p.Cys68Arg Single submitter ⚠
- p.Gln145Pro Single submitter ⚠
- p.Gln47Pro Single submitter ⚠
- p.Glu212Gly Single submitter ⚠
- p.Glu284Gln Single submitter ⚠
- p.Glu29Asp Single submitter ⚠
- p.Glu401Gly Single submitter ⚠
- p.Gly363Asp Single submitter ⚠
- p.Gly410Arg Single submitter ⚠
- p.Gly61Val Single submitter ⚠
- p.His150Arg Single submitter ⚠
- p.His260Arg Single submitter ⚠
- p.His289Gln Single submitter ⚠
- p.His356Gln Single submitter ⚠
- p.His358Arg Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.Ile132Thr Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile373Thr Single submitter ⚠
- p.Leu191Phe Single submitter ⚠
- p.Leu198Pro Single submitter ⚠
- p.Leu240Ser Single submitter ⚠
- p.Leu307Pro Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Met182Thr Single submitter ⚠
- p.Met227Val Single submitter ⚠
- p.Met236Arg Single submitter ⚠
- p.Met320Leu Single submitter ⚠
- p.Phe72Leu Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro396Leu Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser201Phe Single submitter ⚠
- p.Ser246Tyr Single submitter ⚠
- p.Ser402Arg Single submitter ⚠
- p.Thr261Ser Single submitter ⚠
- p.Thr368Ala Single submitter ⚠
- p.Tyr252His Single submitter ⚠
- p.Tyr362His Single submitter ⚠
- p.Tyr417Cys Single submitter ⚠
- p.Val49Ala Single submitter ⚠