| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | LOC126859837, SYNE1 (R5662S +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | SYNE1, SYNE1-AS1 (V2969fs +1 more) | Deletion (non-coding transcript variant +1 more) | Autosomal recessive ataxia, Beauce type +2 more | |
| | | Single nucleotide variant (missense variant) | SYNE1-related disorder +4 more | GConflicting classifications of pathogenicity |
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