| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not specified +1 more | |
| | | Insertion (intron variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more | |
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