Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Deletion (frameshift variant) | Hypoplastic left heart syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene