CASP12 — 54 ClinVar variants
All ClinVar germline CASP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
5 Benign · 7 Likely benign · 42 Uncertain significance
Full CASP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CASP12 variants
Benign 5
- p.His273Arg Single submitter CASP12-related disorder
- c.*6A>G No assertion criteria CASP12-related disorder
- p.Asn33Ile No assertion criteria CASP12-related disorder
- p.Asp193Asn No assertion criteria CASP12-related disorder
- p.Ile215Val No assertion criteria CASP12-related disorder
Likely benign 7
- p.Arg125Ter Multiple submitters
- c.310C>T Single submitter
- c.884G>A Single submitter
- p.Ser53Asn Single submitter
- p.Gly283Ser No assertion criteria CASP12-related disorder
- p.Lys213= No assertion criteria CASP12-related disorder
- p.Phe307= No assertion criteria CASP12-related disorder
Uncertain significance 42
- c.1013T>G Single submitter
- c.107T>C Single submitter
- c.19T>A Single submitter
- c.22A>G Single submitter
- c.254G>A Single submitter
- c.269G>C Single submitter
- c.274G>A Single submitter
- c.275G>A Single submitter
- c.354A>T Single submitter
- c.47A>G Single submitter
- c.496T>C Single submitter
- c.514C>T Single submitter
- c.559G>C Single submitter
- c.596T>G Single submitter
- c.647T>A Single submitter
- c.651G>T Single submitter
- c.65T>C Single submitter
- c.680T>C Single submitter
- c.698A>C Single submitter
- c.725A>G Single submitter
- c.766A>C Single submitter
- c.812C>T Single submitter
- c.85G>T Single submitter
- c.947C>T Single submitter
- c.959T>A Single submitter
- p.Ala143Asp Single submitter
- p.Ala237Thr Single submitter
- p.Arg203Cys Single submitter
- p.Arg203His Single submitter
- p.Asn109Ser Single submitter
- p.Asp263Val Single submitter
- p.Cys179Tyr Single submitter
- p.Gly123Arg Single submitter
- p.Gly9Cys Single submitter
- p.Gly9Ser Single submitter
- p.His172Arg Single submitter
- p.Leu208Arg Single submitter
- p.Leu303Ile Single submitter
- p.Leu58Pro Single submitter
- p.Leu84Arg Single submitter
- p.Met331Ile Single submitter
- p.Tyr336Cys Single submitter