| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Arthrogryposis multiplex congenita 3, myogenic type +3 more | |
| | SYNE1, LOC126859837 (R5591C +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +5 more | GConflicting classifications of pathogenicity |
| | LOC126859837, SYNE1 (R5546* +1 more) | Single nucleotide variant (nonsense) | Autosomal recessive ataxia, Beauce type +1 more | |
Click to view in NCBI Gene