| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +7 more | GConflicting classifications of pathogenicity |
| | LOC126807619, NSD1 (R1778* +5 more) | Single nucleotide variant (nonsense) | Acute myeloid leukemia +3 more | |
| | INSL6, JAK2 (V617F +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome and Noonan-related syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | RASopathy +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | CEBPA-related disorder +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Acute myeloid leukemia | |
| | CEBPA, LOC130064183 (P14A +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Acute myeloid leukemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |