OSM — 58 ClinVar variants
All ClinVar germline OSM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Likely pathogenic · 6 Likely benign · 51 Uncertain significance
Full OSM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OSM p.Ala101Asp Uncertain significance Single submitter
- OSM p.Ala120Val Uncertain significance Single submitter
- OSM p.Ala23Val Uncertain significance Single submitter
- OSM p.Ala26Val Uncertain significance Single submitter
- OSM p.Arg116Cys Uncertain significance Single submitter
- OSM p.Arg170Gln Uncertain significance Single submitter
- OSM p.Arg200Cys Uncertain significance Single submitter
- OSM p.Arg200Gly Uncertain significance Single submitter
- OSM p.Arg207Trp Uncertain significance Single submitter
- OSM p.Arg220Trp Uncertain significance Single submitter
- OSM p.Asn100Ser Uncertain significance Single submitter
- OSM p.Asp112Asn Uncertain significance Single submitter
- OSM p.Cys192Tyr Uncertain significance Single submitter
- OSM p.Gln7His Uncertain significance Single submitter
- OSM p.Glu131Lys Uncertain significance Single submitter
- OSM p.Glu34Val Uncertain significance Single submitter
- OSM p.Glu72Gln Uncertain significance Single submitter
- OSM p.Gly169Val Uncertain significance Single submitter
- OSM p.Gly213Glu Uncertain significance Single submitter
- OSM p.Gly231Arg Uncertain significance Single submitter
- OSM p.Gly29Ser Uncertain significance Single submitter
- OSM p.Gly79Arg Uncertain significance Single submitter
- OSM p.His203Tyr Uncertain significance Single submitter
- OSM p.Leu56Val Uncertain significance Single submitter
- OSM p.Lys167Arg Uncertain significance Single submitter
- OSM p.Met25Thr Uncertain significance Single submitter
- OSM p.Pro141Arg Uncertain significance Single submitter
- OSM p.Pro141Leu Uncertain significance Single submitter
- OSM p.Pro165Ser Uncertain significance Single submitter
- OSM p.Pro175Gln Uncertain significance Single submitter
- OSM p.Pro58Arg Uncertain significance Single submitter
- OSM p.Ser160Ala Uncertain significance Single submitter
- OSM p.Ser160Leu Uncertain significance Single submitter
- OSM p.Ser223Asn Uncertain significance Single submitter
- OSM p.Ser24Arg Uncertain significance Single submitter
- OSM p.Ser30Cys Uncertain significance Single submitter
- OSM p.Ser32Leu Uncertain significance Single submitter
- OSM p.Thr162Lys Uncertain significance Single submitter
- OSM p.Thr166Met Uncertain significance Single submitter
- OSM p.Thr179Ser Uncertain significance Single submitter
- OSM p.Val106Leu Uncertain significance Single submitter
- OSM p.Val232Met Uncertain significance Single submitter
- OSM p.Val3Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- OSM p.Arg187Cys Uncertain significance Single submitter
- OSM p.Arg233Cys Uncertain significance Single submitter
- OSM p.Arg77Cys Uncertain significance Single submitter
- OSM p.Gly127Glu Uncertain significance Single submitter
- OSM p.Trp212Cys Uncertain significance Single submitter
- OSM p.Tyr35Cys Uncertain significance Single submitter
All OSM variants
Likely pathogenic 1
- p.Gln97Ter Single submitter autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Likely benign 6
- p.Ala172Thr Single submitter
- p.Arg233His Single submitter
- p.Arg36His Single submitter
- p.Thr162Met Single submitter
- p.Thr246Pro Single submitter
- p.Thr86Ala Single submitter
Uncertain significance 51
- p.Ala101Asp Single submitter ⚠
- p.Ala120Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg187Cys Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg200Gly Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg233Cys Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asp112Asn Single submitter ⚠
- p.Cys192Tyr Single submitter ⚠
- p.Gln7His Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu34Val Single submitter ⚠
- p.Glu72Gln Single submitter ⚠
- p.Gly127Glu Single submitter ⚠
- p.Gly169Val Single submitter ⚠
- p.Gly213Glu Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly29Ser Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.His203Tyr Single submitter ⚠
- p.Leu56Val Single submitter ⚠
- p.Leu90Pro Single submitter
- p.Lys167Arg Single submitter ⚠
- p.Met202Val Single submitter
- p.Met25Thr Single submitter ⚠
- p.Pro141Arg Single submitter ⚠
- p.Pro141Leu Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro175Gln Single submitter ⚠
- p.Pro58Arg Single submitter ⚠
- p.Ser160Ala Single submitter ⚠
- p.Ser160Leu Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser24Arg Single submitter ⚠
- p.Ser30Cys Single submitter ⚠
- p.Ser32Leu Single submitter ⚠
- p.Thr162Lys Single submitter ⚠
- p.Thr166Met Single submitter ⚠
- p.Thr179Ser Single submitter ⚠
- p.Trp212Cys Single submitter ⚠
- p.Tyr35Cys Single submitter ⚠
- p.Val106Leu Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val3Ile Single submitter ⚠