| | | Deletion (frameshift variant +1 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Perrault syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Perrault syndrome 5 +4 more | |
| | | Duplication (splice acceptor variant +1 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +3 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive cerebellar ataxia +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive cerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Deletion (non-coding transcript variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive cerebellar ataxia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive cerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile onset spinocerebellar ataxia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | 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) | Autosomal recessive cerebellar ataxia +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 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) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more | GConflicting classifications of pathogenicity |
| | | 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) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive cerebellar ataxia +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TWNK-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile onset spinocerebellar ataxia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +2 more) | Infantile onset spinocerebellar ataxia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Infantile onset spinocerebellar ataxia +3 more | |