| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | RSPO1-related disorder +1 more | |
| | | Deletion (frameshift variant) | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome +1 more | GConflicting classifications of pathogenicity |
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