CIROZ — 16 ClinVar variants
All ClinVar germline CIROZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Likely benign · 10 Uncertain significance
Full CIROZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CIROZ variants
Pathogenic 1
- p.Arg193Ter No assertion criteria heterotaxy, visceral, 14, autosomal
Likely pathogenic 2
- p.Arg732Ter Single submitter heterotaxy, visceral, 14, autosomal
- p.Tyr128Ter Single submitter heterotaxy, visceral, 14, autosomal
Conflicting classifications of pathogenicity 1
- p.Arg113Ter Single submitter
Benign 1
- p.Gly689Arg Multiple submitters
Likely benign 1
- p.Arg418Gln Single submitter
Uncertain significance 10
- p.Ala750Val Single submitter
- p.Gln263Lys Single submitter
- p.Gln404fs Single submitter heterotaxy, visceral, 14, autosomal
- p.Gly629Val Single submitter
- p.Leu771Ile Single submitter
- p.Leu798fs Single submitter
- p.Pro478Ser Single submitter
- p.Ser56Leu Single submitter
- p.Thr19Met Single submitter heterotaxy, visceral, 14, autosomal
- p.Val232Ala Single submitter