| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | BAP1-related tumor predisposition syndrome | |
| | | Single nucleotide variant (missense variant) | BAP1-associated neurodevelopmental disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BAP1-related tumor predisposition syndrome | |
Click to view in NCBI Gene