| | | Duplication | not provided | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | SH3GLB2, SLC25A25 +70 more | Duplication | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | TOR1A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Duplication (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (splice donor variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | LOC130002772, TOR1A (L12R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | TOR1A-related disorder | |
| | | Single nucleotide variant (splice donor variant) | TOR1A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 5 | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Duplication | not provided | |
| | | Duplication | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Microsatellite (frameshift variant) | Dystonic disorder | |
| | | Deletion (frameshift variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Duplication (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Deletion (frameshift variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Early-onset generalized limb-onset dystonia | |
| | | Single nucleotide variant (missense variant) | Early-onset generalized limb-onset dystonia | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Single nucleotide variant (intron variant) | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | Dystonic disorder | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |