Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Deletion (nonsense) | Acute intermittent porphyria +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene