| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ESR1, SYNE1 (L8693M +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more | |
| | ESR1, SYNE1 (R8687Q +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | |
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