| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HDAC11, LOC126806611 +244 more | Deletion | 3p- syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (stop lost) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | 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 (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (inframe_deletion) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (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 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Myasthenic syndrome, slow-channel congenital +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Synaptic congenital myasthenic syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Deletion (frameshift variant) | Abnormality of the musculature | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense 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 (synonymous variant) | not specified +1 more | |
| | | 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 +2 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous 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) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 5 | |