| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurogenic scapuloperoneal syndrome, Kaeser type +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +4 more | |
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