| | | Single nucleotide variant (nonsense) | Agenesis of the corpus callosum with peripheral neuropathy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, IIa 2II | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
| | | Single nucleotide variant (nonsense) | Agenesis of the corpus callosum with peripheral neuropathy +1 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Indel (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
| | | Deletion (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
| | | Deletion (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, IIa 2II | |
| | SLC12A6, LOC129390683 (R156H +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC129390683, SLC12A6 (R207C +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |