Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Tented upper lip vermilion +10 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-D +22 more | |
| | | Translocation | Hypertelorism +13 more | |
| | | Inversion | Accelerated skeletal maturation +12 more | |
| | | Single nucleotide variant (splice donor variant) | tegafur response - Toxicity +3 more | |
Click to view in NCBI Gene