| | PSMG3, PSMG3-AS1 +904 more | Copy number gain | See cases | |
| | LOC129997989, LOC129997990 +823 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123924897, LOC123924898 +418 more | Copy number gain | See cases | |
| | LOC110120728, LOC110120749 +879 more | Copy number gain | See cases | |
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860013, LOC126860014 +1298 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | AP5Z1-related condition | |
| | AP5Z1, LOC129997861 (A13P) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Deletion (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Indel (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Deletion (frameshift variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (intron variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Deletion (frameshift variant +2 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 48 | |