| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Inversion | Neurofibromatosis, type 1 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC108281169, LOC108281170 +4 more | Duplication | Neurofibromatosis, type 1 | |
| | LOC108281169, LOC108281170 +4 more | Deletion | Neurofibromatosis, type 1 | |
| | MIR4733HG, LOC111811965 +1 more | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Duplication | Neurofibromatosis, type 1 | |
| | LOC108281181, LOC108281182 +13 more | Deletion | Neurofibromatosis, type 1 | |
| | | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Deletion (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 +1 more | GConflicting classifications of pathogenicity |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Duplication (5 prime UTR variant) | Neurofibromatosis-Noonan syndrome +3 more | |
| | MIR4733HG, LOC111811965 +1 more | Duplication (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | | Duplication (5 prime UTR variant) | Neurofibromatosis-Noonan syndrome +3 more | |
| | LOC111811965, MIR4733HG +1 more | Duplication (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | MIR4733HG, LOC111811965 +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis-Noonan syndrome +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | MIR4733HG, LOC111811965 +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis-Noonan syndrome +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Juvenile myelomonocytic leukemia +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, familial spinal +3 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis-Noonan syndrome +4 more | |
| | | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | not provided +5 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | LOC111811965, MIR4733HG +1 more | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Duplication | Neurofibromatosis, type 1 | |
| | LOC108281182, LOC111811965 +13 more | Duplication | Neurofibromatosis, type 1 | |
| | | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Neurofibromatosis, type 1 | |
| | | Deletion | Neurofibromatosis, type 1 | |
| | LOC108281180, LOC108281181 +13 more | Duplication | Neurofibromatosis, type 1 | |
| | LOC108281169, LOC111811965 +2 more | Deletion | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more (M1fs) | Deletion (frameshift variant +1 more) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | MIR4733HG, LOC111811965 +1 more | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | MIR4733HG, LOC111811965 +1 more (M1L) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | LOC111811965, MIR4733HG +1 more (M1L) | Single nucleotide variant (missense variant +1 more) | Neurofibromatosis, type 1 | |
| | MIR4733HG, LOC111811965 +1 more (M1V) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | LOC111811965, MIR4733HG +1 more (M1K) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | LOC111811965, MIR4733HG +1 more (M1R) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | MIR4733HG, LOC111811965 +1 more (M1T) | Single nucleotide variant (missense variant +1 more) | Neurofibromatosis, type 1 +3 more | |
| | LOC111811965, MIR4733HG +1 more (M1I) | Single nucleotide variant (non-coding transcript variant +2 more) | Neurofibromatosis, type 1 | GPathogenic/Likely pathogenic |
| | LOC111811965, MIR4733HG +1 more (M1I) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | LOC111811965, MIR4733HG +1 more (M1I) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | LOC111811965, MIR4733HG +1 more (A2T) | Single nucleotide variant (non-coding transcript variant +1 more) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (A2S) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | LOC111811965, MIR4733HG +1 more (A2F) | Indel (missense variant) | Juvenile myelomonocytic leukemia +4 more | |
| | LOC111811965, MIR4733HG +1 more (A2D) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +1 more | |
| | LOC111811965, MIR4733HG +1 more (A3fs) | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (A2V) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | LOC111811965, MIR4733HG +1 more (A3T) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | LOC111811965, MIR4733HG +1 more (A3E) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | LOC111811965, MIR4733HG +1 more (A3G) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (A3V) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +2 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Neurofibromatosis, type 1 +2 more | |
| | LOC111811965, MIR4733HG +1 more (H4fs) | Deletion (frameshift variant) | not provided +1 more | |
| | LOC111811965, MIR4733HG +1 more (H4fs) | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (H4Y) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (H4N) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more (R5G) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | LOC111811965, MIR4733HG +1 more (R5W) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | LOC111811965, MIR4733HG +1 more (R5T) | Single nucleotide variant (non-coding transcript variant +1 more) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (R5fs) | Deletion (frameshift variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more | Single nucleotide variant (synonymous variant) | Neurofibromatosis, type 1 | |
| | LOC111811965, MIR4733HG +1 more (R5S) | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +4 more | |
| | LOC111811965, MIR4733HG +1 more (P6S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC111811965, MIR4733HG +1 more (P6Q) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | MIR4733HG, LOC111811965 +1 more (P6R) | Single nucleotide variant (missense variant) | not provided +3 more | |