| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (intron variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (Q810K +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (K991I +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (S1027T +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (Y1040C +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (R1006Q +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (L889V +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (G734E +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP8, USP50 (L1003S +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Duplication (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (F769S +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (R991Q +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (S992A +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (R1112* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | USP50, USP8 (A842P +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (R885* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Duplication | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Duplication (intron variant) | Hereditary spastic paraplegia | |
| | USP50, USP8 (P1044A +1 more) | Single nucleotide variant (missense variant) | not provided | |