| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130059818, SPG7 (P37fs) | Deletion (frameshift variant) | Hereditary spastic paraplegia 7 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 7 +1 more | |
| | | Duplication (splice donor variant) | Hereditary spastic paraplegia 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 7 +4 more | GPathogenic/Likely pathogenic |
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