| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Sengers syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Sengers syndrome | |
| | | Single nucleotide variant (splice donor variant) | Sengers syndrome | |
| | | Single nucleotide variant (missense variant) | AGK-related disorder | |
Click to view in NCBI Gene