| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Agenesis of the corpus callosum with peripheral neuropathy | GPathogenic/Likely pathogenic |
| | LOC129390683, SLC12A6 (R207C +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene