| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129390683, SLC12A6 (R207C +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC129390683, SLC12A6 (L147fs +4 more) | Duplication (frameshift variant) | Agenesis of the corpus callosum with peripheral neuropathy | |
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