| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more | |
| | | Duplication (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more | |
| | | Microsatellite (inframe_deletion) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more | |
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