| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
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