| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Propionic acidemia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Propionic acidemia | |
| | | Single nucleotide variant (nonsense +2 more) | Propionic acidemia +1 more | |
Click to view in NCBI Gene