| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | ALS2-related disorder | |
| | | Duplication | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | ALS2-related disorder | |
| | | 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) | 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 (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 | |
| | | 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 (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 | |
| | | Single nucleotide variant (splice acceptor 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 (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 (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 | |
| | | 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 (intron 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 | |
| | | 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 (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice donor 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 (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Duplication (frameshift 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 (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (intron 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 (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice donor 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 (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 | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron variant +1 more) | 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 (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (intron 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 | |
| | | 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 | |
| | | 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) | 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 | |
| | | Single nucleotide variant (splice donor 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 (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | ALS2-related motor neuron disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Infantile-onset ascending hereditary spastic paralysis | |