| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Copy number loss | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (intron variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Optic atrophy 9 +2 more | |
| | ACO2, LOC130067544 (Q563E) | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Inversion (splice acceptor variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Infantile cerebellar-retinal degeneration +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration +3 more | |
| | | Deletion (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Optic atrophy 9 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile cerebellar-retinal degeneration | |