Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (splice acceptor variant +2 more) | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | |
| | | Duplication (frameshift variant) | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | |
Click to view in NCBI Gene