Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hermansky-Pudlak syndrome 7 | |
| | | Single nucleotide variant (nonsense) | Hermansky-Pudlak syndrome 7 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hermansky-Pudlak syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Hermansky-Pudlak syndrome 7 | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Hermansky-Pudlak syndrome 7 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hermansky-Pudlak syndrome 7 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
Click to view in NCBI Gene