| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 |
| | | Single nucleotide variant (synonymous variant) | Amyotrophic lateral sclerosis type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
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