| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLCNKA, LOC106501712 (M184V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | CLCNKA, LOC106501712 (R495C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CLCNKA, LOC106501712 (V570fs +1 more) | Deletion (frameshift variant) | not provided | |
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