| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SPG11, LOC130056973 (Q1436fs) | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | LOC130056973, SPG11 (D1421N) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 +4 more | GConflicting classifications of pathogenicity |
| | SPG11, LOC130056973 (A1406S) | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +4 more | |
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