Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Corticosteroid-binding globulin deficiency | |
| | | Single nucleotide variant (missense variant) | Corticosteroid-binding globulin deficiency | |
| | | Single nucleotide variant (nonsense) | Corticosteroid-binding globulin deficiency | |
| | | Single nucleotide variant (missense variant) | Corticosteroid-binding globulin deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SERPINA6-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene