| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Auditory neuropathy-optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Auditory neuropathy-optic atrophy syndrome +2 more | |
Click to view in NCBI Gene