| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | SYNE1, SYNE1-AS1 (H3000Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | SYNE1, SYNE1-AS1 (T2991M +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | SYNE1, SYNE1-AS1 (M2958V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more | |
| | SYNE1, SYNE1-AS1 (L2947V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SYNE1-AS1, SYNE1 (S2914N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SYNE1, SYNE1-AS1 (V2907L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | SYNE1, SYNE1-AS1 (R2906* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SYNE1, SYNE1-AS1 (I2894L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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