ODAPH — 18 ClinVar variants
All ClinVar germline ODAPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
3 Pathogenic · 3 Likely pathogenic · 6 Benign · 5 Likely benign · 1 Uncertain significance
Full ODAPH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ODAPH variants
Pathogenic 3
- p.Arg77Ter Single submitter amelogenesis imperfecta hypomaturation type 2A4
- c.68-2A>T No assertion criteria amelogenesis imperfecta hypomaturation type 2A4
- p.Cys43Ter No assertion criteria amelogenesis imperfecta hypomaturation type 2A4
Likely pathogenic 3
Benign 6
- c.67+138A>G Multiple submitters
- c.67+269A>C Multiple submitters
- p.Arg109His Multiple submitters
- p.Pro30Leu Multiple submitters
- p.Ser93Pro Multiple submitters
- c.67+216A>C Single submitter
Likely benign 5
- p.Pro50= Single submitter
- c.67+445T>G No assertion criteria ODAPH-related disorder
- c.*73C>T No assertion criteria ODAPH-related disorder
- p.Ala40Ser No assertion criteria ODAPH-related disorder
- p.Val18= No assertion criteria ODAPH-related disorder
Uncertain significance 1
- p.Ile64= Single submitter