| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive cerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Mitochondrial DNA depletion syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial DNA depletion syndrome +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | TWNK-related disorder | |
| | | Deletion (non-coding transcript variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | TWNK-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | TWNK-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | TWNK-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | |
| | | Single nucleotide variant (intron variant +2 more) | not specified | |
| | | Deletion (frameshift variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | Hereditary spastic paraplegia | |