| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Deletion (frameshift variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Deletion (frameshift variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite (intron variant) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Indel | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Indel | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Microsatellite | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |