Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
| | | Duplication (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
| | | Single nucleotide variant (missense variant) | Hyperpigmentation with or without hypopigmentation, familial progressive | |
Click to view in NCBI Gene