| | | Insertion (frameshift variant) | Generalized dystonia +1 more | |
| | | Deletion (frameshift variant) | Myoclonus +4 more | |
| | | Single nucleotide variant (missense variant) | Limb dystonia +1 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Cerebellar ataxia +11 more | |
| | | Deletion | Spastic ataxia +9 more | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia +9 more | |
| | | Single nucleotide variant | Gait disturbance +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | | | Hereditary spastic paraplegia 7 | |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia +10 more | |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Microsatellite (frameshift variant) | Dysphagia +6 more | |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Pes cavus +7 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +6 more | |
| | | Deletion (frameshift variant) | Parkinsonian disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia +6 more | GConflicting classifications of pathogenicity |
| | | Translocation | Delayed speech and language development +15 more | |
| | | Translocation | Dysarthria +2 more | |
| | | Single nucleotide variant | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +1 more) | Spastic diplegia +5 more | |
| | | Duplication (frameshift variant) | Troyer syndrome | |
| | | Single nucleotide variant (missense variant) | Optic nerve hypoplasia +12 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Leigh syndrome due to mitochondrial complex IV deficiency +11 more | |