Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Palmoplantar keratoderma | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Palmoplantar keratoderma +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene