| | | 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 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more | |
| | | 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) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 15 +3 more | GConflicting classifications of pathogenicity |
| | ALG14, LOC129930989 (S38I) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | ALG14, LOC129930989 (R34fs) | Duplication (frameshift variant +1 more) | not provided | |
| | 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 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |