| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Deletion (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | USP8-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | USP8-related condition | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Variation (no sequence alteration) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | USP8-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |