| | LINC01708, LINC01709 +549 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Duplication (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Microsatellite (splice donor variant) | Congenital myasthenic syndrome 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Deletion (inframe_deletion +1 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myasthenic syndrome 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALG14-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | ALG14-related disorder +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 | |
| | | Single nucleotide variant (intron variant) | ALG14-related disorder | |
| | | 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) | Congenital myasthenic syndrome 15 +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) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 15 +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 myasthenic syndrome 15 +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) | Inborn genetic diseases +3 more | |