| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Single nucleotide variant (nonsense) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Single nucleotide variant (splice donor variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Single nucleotide variant (nonsense) | Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene