| | CHROMR, PRKRA (G187R +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | PRKRA-related condition | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | CHROMR, PRKRA (L160F +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Dystonia 16 | |
| | CHROMR, PRKRA (I195T +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | | Single nucleotide variant (intron variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | | Duplication (intron variant) | Dystonia 16 | |
| | | Single nucleotide variant (intron variant) | Dystonia 16 | |
| | CHROMR, PRKRA (H260R +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | PRKRA, CHROMR (V181I +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | CHROMR, PRKRA (C100F +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Dystonia 16 | |
| | | Deletion (intron variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | CHROMR, PRKRA (N202S +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | CHROMR, PRKRA (N290S +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | PRKRA, CHROMR (S265R +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | | Insertion (splice acceptor variant) | Dystonia 16 | |
| | CHROMR, PRKRA (N242S +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | | Insertion (inframe_insertion +1 more) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | GConflicting classifications of pathogenicity |
| | CHROMR, PRKRA (A266T +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
| | CHROMR, PRKRA (C100R +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | CHROMR, PRKRA (T204R +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | CHROMR, PRKRA (C284F +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | CHROMR, PRKRA (I256V +3 more) | Single nucleotide variant (missense variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | Dystonic disorder +2 more | |
| | CHROMR, PRKRA (I226N +3 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Dystonia 16 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dystonia 16 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Dystonic disorder | |
| | | Duplication (3 prime UTR variant) | Dystonic disorder | |
| | PRKRA, CHROMR (S235T +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Insertion (splice acceptor variant) | Dystonia 16 | |
| | CHROMR, PRKRA (P222L +3 more) | Single nucleotide variant (missense variant) | PRKRA-related condition +2 more | |