| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more | |
| | | Insertion | Spinocerebellar ataxia type 37 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 13 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic Lateral Sclerosis, Recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 2, juvenile +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | ALS2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis +2 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 2, juvenile +3 more | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ALS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice donor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (splice donor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis +1 more | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 2, juvenile | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis +5 more | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Microsatellite (frameshift variant) | Amyotrophic lateral sclerosis type 2, juvenile | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Deletion (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis +4 more | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Duplication (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | GPathogenic/Likely pathogenic |