| | LOC130062978, LOC130062979 +903 more | Copy number gain | See cases | |
| | LOC130063254, LOC130063255 +810 more | Copy number gain | See cases | |
| | LOC130063249, LOC130063250 +124 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Dystonic disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Torsion dystonia 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypomyelinating leukodystrophy 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Torsion dystonia 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 6 | |