| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |
| | | Microsatellite (frameshift variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |
| | | Deletion (frameshift variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
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