| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Indel (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Duplication (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Duplication (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Indel (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Duplication (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Indel (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (splice donor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Duplication (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (splice donor variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Deletion (frameshift variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |