| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Deletion (frameshift variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 73 | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Deletion (inframe_indel +1 more) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Deletion (frameshift variant +1 more) | Hereditary spastic paraplegia 45 | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 15 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neuronal ceroid lipofuscinosis 7 | |
| | | Single nucleotide variant (splice donor variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia 86, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia 86, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked syndromic, Turner type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Syndromic intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | ARG1, MED23 (V145E +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant) | Developmental delay with autism spectrum disorder and gait instability | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 48 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Cockayne syndrome type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mucolipidosis type IV | GPathogenic/Likely pathogenic |
| | ADAT3, SCAMP4 (V144M +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability-strabismus syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Hereditary spastic paraplegia 45 | |
| | | Deletion (frameshift variant) | not provided +4 more | |