Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Neurofibroma +3 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inguinal freckling +13 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +9 more | |
Click to view in NCBI Gene