Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | BAP1-related tumor predisposition syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Uveal melanoma | |
| | | Single nucleotide variant (missense variant) | Ocular melanocytosis +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +2 more | |
| | | Indel (missense variant) | Uveal melanoma | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Melanoma +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Melanoma +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome | |
Click to view in NCBI Gene