ASMT — 12 ClinVar variants
All ClinVar germline ASMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Conflicting · 2 Benign · 4 Likely benign · 5 Uncertain significance
Full ASMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ASMT variants
Conflicting classifications of pathogenicity 1
- c.562+2T>C Single submitter
Benign 2
- p.Asp287= No assertion criteria ASMT-related disorder
- p.Trp190Arg No assertion criteria ASMT-related disorder
Likely benign 4
- p.Lys81Glu Multiple submitters
- c.910+8del No assertion criteria ASMT-related disorder
- p.Arg210= No assertion criteria ASMT-related disorder
- p.Asp122= No assertion criteria ASMT-related disorder
Uncertain significance 5
- p.Asn17Lys Single submitter
- p.Cys29Ter Single submitter
- p.Phe266Val Single submitter
- p.Tyr229Ter Single submitter
- p.Val236Ile Single submitter