| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Neuronopathy, distal hereditary motor, type 5B | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 31 | |
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