| | | Single nucleotide variant (3 prime UTR variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +3 more | |
| | | 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 +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | 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 +3 more | |
| | | 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 (missense variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 15 +4 more | |
| | ALG14, LOC129930989 (A11T) | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |