| | | Duplication | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 7A | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 7A | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Duplication (inframe_insertion) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Microsatellite (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Deletion (frameshift variant) | Neuronopathy, distal hereditary motor, type 7A | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronopathy, distal hereditary motor, type 7A +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Neuronopathy, distal hereditary motor, type 7A | |
| | | Deletion | Neuronopathy, distal hereditary motor, type 7A +1 more | |
| | | Deletion | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 7A +2 more | |
| | | Indel (frameshift variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 20 +1 more | |