| | | Microsatellite (intron variant) | Cerebellar ataxia | |
| | | Deletion (frameshift variant) | Keipert syndrome | |
| | | Duplication (frameshift variant) | Keipert syndrome | |
| | | Indel | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Indel | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | |
| | | Deletion (frameshift variant) | Keipert syndrome | |
| | | Single nucleotide variant (nonsense) | Keipert syndrome | |
| | | Duplication (frameshift variant) | Keipert syndrome | |
| | | Single nucleotide variant (nonsense) | Keipert syndrome | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 +1 more | |
| | | Deletion (frameshift variant) | Mirror movements 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | CLIC2, LOC130068896
+2 more | Deletion | Early-onset parkinsonism-intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Frank-Ter Haar syndrome | |