Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Skin/hair/eye pigmentation, variation in, 4 | |
| | | Insertion (frameshift variant +1 more) | Skin/hair/eye pigmentation, variation in, 4 | |
| | | Single nucleotide variant (no sequence alteration) | Skin/hair/eye pigmentation, variation in, 4 | |
Click to view in NCBI Gene