| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Microsatellite | not provided | |
| | | Copy number loss | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Congenital myasthenic syndrome 5 | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant +1 more) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 5 | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Deletion (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Synaptic congenital myasthenic syndromes | |
| | | Deletion | Synaptic congenital myasthenic syndromes | |
| | | Single nucleotide variant (missense variant) | Synaptic congenital myasthenic syndromes | |
| | | Single nucleotide variant (missense variant) | Synaptic congenital myasthenic syndromes | |
| | | Single nucleotide variant (missense variant) | Synaptic congenital myasthenic syndromes | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 5 | |
| | | Duplication | Congenital myasthenic syndrome 5 | |
| | | Deletion | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Duplication (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |