| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 2D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal hereditary motor neuropathy type 2 | |
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