Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bowing of the long bones +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Pelger-Huët anomaly +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
Click to view in NCBI Gene