| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Neurofibromatosis, type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurofibromatosis, type 1 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene