| | | Single nucleotide variant (3 prime UTR variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Farber lipogranulomatosis +2 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +2 more | |
| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | |
| | | Single nucleotide variant (intron variant +2 more) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +1 more | |