| | | Deletion | GNE myopathy +1 more | |
| | | Single nucleotide variant (nonsense) | GNE myopathy | |
| | | Microsatellite (frameshift variant) | GNE myopathy | |
| | | Indel (frameshift variant) | GNE myopathy | |
| | | Single nucleotide variant (missense variant) | GNE myopathy | |
| | | Deletion (frameshift variant) | GNE myopathy | |
| | | Single nucleotide variant (nonsense) | GNE myopathy | |
| | | Single nucleotide variant (missense variant) | GNE myopathy | |
| | | Single nucleotide variant (missense variant) | GNE myopathy | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (splice donor variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (splice donor variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (nonsense) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (nonsense) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialuria +1 more | |
| | | Single nucleotide variant (nonsense) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Deletion (frameshift variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Deletion (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Deletion (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialuria +1 more | |
| | | Microsatellite (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sialuria +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | GNE myopathy +1 more | |
| | | Deletion (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Deletion (frameshift variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sialuria +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | Sialuria +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Insertion (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | GNE myopathy +1 more | |
| | | Deletion (frameshift variant +1 more) | GNE myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | GNE myopathy +1 more | |