| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (nonsense +2 more) | Congenital myasthenic syndrome 19 | |
| | | Insertion (frameshift variant +1 more) | Congenital myasthenic syndrome 19 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 19 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 19 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 19 +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 19 | |
| | | Indel (intron variant +1 more) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 19 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 19 | |
| | | Deletion (frameshift variant +2 more) | Congenital myasthenic syndrome 19 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 19 | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 19 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion | Congenital myasthenic syndrome 19 | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 19 | |