| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | GPX1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Gluthathione peroxidase deficiency | |
| | | Microsatellite (inframe_insertion) | Gluthathione peroxidase deficiency | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (missense variant) | GPX1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Gluthathione peroxidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | Non-ketotic hyperglycinemia | |
| | | Deletion | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more | |
| | | Copy number loss | not provided | |
| | | Deletion | LAMB2-related infantile-onset nephrotic syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |