| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935653, DES +14 more | Duplication | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | 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) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Myofibrillar Myopathy, Dominant +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | |
| | | Insertion (5 prime UTR variant) | not provided | |
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