| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126859837, SYNE1 (R5591C +1 more) | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 3, myogenic type +5 more | GConflicting classifications of pathogenicity |
| | LOC126859837, SYNE1 (R5623C +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +2 more | |
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