| | LINC01708, LINC01709
+549 more | Copy number gain | See cases | |
| | | Microsatellite (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ALG14-related disorder | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |