| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 21 +2 more | |
| | | Duplication (frameshift variant) | Neurodegeneration +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration | |
| | | Single nucleotide variant (nonsense) | Abnormal cerebral white matter morphology +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Pigmentary pallidal degeneration +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration +1 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 9 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Optic atrophy 9 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brain atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Brain atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system | |
| | | Deletion (splice acceptor variant +1 more) | Spastic diplegia +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 43 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 56 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodegeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |