| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome progressed to acute myeloid leukemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | GATA2-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +3 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Bohring-Opitz syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Bohring-Opitz syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Bohring-Opitz syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Bohring-Opitz syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | Bohring-Opitz syndrome +3 more | GPathogenic/Likely pathogenic |