| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
Click to view in NCBI Gene