| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 10 | |
| | EMILIN1, LOC129933355 (V943I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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