| | | Single nucleotide variant (nonsense) | Werdnig-Hoffmann disease | |
| | | Indel (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Copy number loss | Werdnig-Hoffmann disease | |
| | | Copy number loss | Werdnig-Hoffmann disease | |
| | | Deletion (stop lost +3 more) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (intron variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Werdnig-Hoffmann disease | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Werdnig-Hoffmann disease +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Werdnig-Hoffmann disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Werdnig-Hoffmann disease +4 more | |
| | | Deletion | Spinal muscular atrophy, type II +3 more | |
| | | Single nucleotide variant (missense variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant +1 more) | Werdnig-Hoffmann disease | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy +2 more | GPathogenic/Likely pathogenic |