| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126859837, SYNE1 (R5650Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SYNE1, LOC126859837 (M5563T +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene