Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Deletion (frameshift variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
Click to view in NCBI Gene