| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Neurofibromatosis, type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neurofibromatosis, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neurofibromatosis, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
Click to view in NCBI Gene