| | | Single nucleotide variant (synonymous variant) | Neurofibromatosis, type 1 | |
| | | Indel (frameshift variant) | Neurofibroma +1 more | |
| | | Deletion (frameshift variant) | Neurofibroma | |
| | | Duplication (nonsense) | Neurofibroma | |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Neurofibromatosis, type 1 +1 more | |
| | | Deletion (splice donor variant) | Neurofibroma +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neurofibroma +2 more | |
| | | Single nucleotide variant (splice donor variant) | Neurofibromatosis, type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurofibromatosis, type 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Neurofibroma +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Neurofibromatosis, type 1 +5 more | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 1 +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |