DIO1 — 29 ClinVar variants
All ClinVar germline DIO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 1 Benign · 3 Likely benign · 23 Uncertain significance
Full DIO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll DIO1 variants
Pathogenic 2
- p.Asn94Lys No assertion criteria thyroid hormone metabolism, abnormal, 2
- p.Met201Ile No assertion criteria thyroid hormone metabolism, abnormal, 2
Benign 1
- p.Pro96= Multiple submitters
Likely benign 3
- p.Gly49= Single submitter
- p.Met130Leu Single submitter
- p.Met169Val Single submitter
Uncertain significance 23
- p.Arg12Gly Single submitter
- p.Arg241Cys Single submitter
- p.Arg78Cys Single submitter
- p.Asn167Lys Single submitter
- p.Glu239Lys Single submitter
- p.Glu46Lys Single submitter
- p.Gly222Ser Single submitter
- p.Gly45Cys Single submitter
- p.Ile146Thr Single submitter
- p.Ile224Val Single submitter
- p.Leu13Phe Single submitter
- p.Leu216Phe Single submitter
- p.Leu88Ile Single submitter
- p.Lys227Glu Single submitter
- p.Lys229Glu Single submitter
- p.Met169Thr Single submitter
- p.Met44Thr Single submitter
- p.Pro4Leu Single submitter
- p.Ser205Asn Single submitter
- p.Thr48Met Single submitter
- p.Trp61Arg Single submitter
- p.Trp72Gly Single submitter
- p.Val77Ile Single submitter