| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive early-onset Parkinson disease 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Dopa-responsive dystonia due to sepiapterin reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | |
| | LOC100133077, CACNA1B (P32L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Torsion dystonia 6 | |
| | | Single nucleotide variant (intron variant +1 more) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Dystonia 27 | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dyskinesia with orofacial involvement, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | SFTA3, NKX2-1 (G322S +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 27 +1 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (R343W +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bethlem myopathy 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dystonia 27 +2 more | GConflicting classifications of pathogenicity |
| | LOC130065345, PANK2 (R128Q +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | LOC130065345, PANK2 (R94G) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +2 more | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 27 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dopa-responsive dystonia due to sepiapterin reductase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 27 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dystonia 27 +3 more | GConflicting classifications of pathogenicity |