| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129997480, SYNE1 (S5773C +1 more) | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more | |
| | SYNE1, LOC129997480 (S5769L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129997480, SYNE1 (T5767P +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +2 more | GConflicting classifications of pathogenicity |
| | LOC129997480, SYNE1 (P5837T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SYNE1, LOC129997480 (E5763V +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC129997480, SYNE1 (K5730Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129997480, SYNE1 (S5726P +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive ataxia, Beauce type +2 more | GConflicting classifications of pathogenicity |
| | LOC129997480, SYNE1 (A5725N +1 more) | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene