| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Isolated hyperchlorhidrosis +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (non-coding transcript variant +1 more) | Isolated hyperchlorhidrosis | |
| | | Single nucleotide variant (missense variant +1 more) | Isolated hyperchlorhidrosis | |
Click to view in NCBI Gene