| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant Parkinson disease 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant +1 more) | Kugelberg-Welander disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Kugelberg-Welander disease | |
| | | Single nucleotide variant (nonsense) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Werdnig-Hoffmann disease +1 more | |
| | | Single nucleotide variant (missense variant) | Kugelberg-Welander disease | |
| | | Single nucleotide variant (missense variant) | Kugelberg-Welander disease | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (missense variant) | Kugelberg-Welander disease | |
| | | Single nucleotide variant (missense variant) | Kugelberg-Welander disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Kugelberg-Welander disease | |
| | | Deletion (intron variant) | Spinal muscular atrophy | |
| | | Single nucleotide variant (intron variant) | Spinal muscular atrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Spinal muscular atrophy, type II | |
| | | Single nucleotide variant (missense variant +1 more) | Spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Spinal muscular atrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Kugelberg-Welander disease +4 more | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 2, neurogenic type | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 9B +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Myopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Melanoma and neural system tumor syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial melanoma +2 more | |
| | | Single nucleotide variant | Anauxetic dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Deletion (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | EXOSC3-related disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B | |
| | | Duplication (frameshift variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1B | |