| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
Click to view in NCBI Gene