Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 8 | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 8 | |
| | | Deletion (inframe_deletion) | Hermansky-Pudlak syndrome 8 | |
| | | Single nucleotide variant (nonsense) | Hermansky-Pudlak syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 8 | |
Click to view in NCBI Gene