| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129997480, SYNE1 (A5770T +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | |
| | SYNE1, LOC129997480 (T5757R +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +3 more | GConflicting classifications of pathogenicity |
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