| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2X +4 more | |
| | | Single nucleotide variant (missense variant) | Gait disturbance +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | SPG11, LOC130056973 (Q1436fs) | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | LOC130056973, SPG11 (A1406fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Insertion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
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