| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +2 more | |
| | | Deletion (frameshift variant) | Myelodysplastic syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome | |
| | | Deletion (frameshift variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (nonsense) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome | |
| | | Deletion (frameshift variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (intron variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Myelodysplastic syndrome | |
| | | Microsatellite (frameshift variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | Bohring-Opitz syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Bohring-Opitz syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +3 more | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome | |
| | | Deletion | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | Monocytopenia with susceptibility to infections +2 more | |
| | | Duplication (frameshift variant) | Bohring-Opitz syndrome | |
| | | Indel (frameshift variant) | Myelodysplastic syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Bohring-Opitz syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +3 more | |
| | | Single nucleotide variant (nonsense) | Myelodysplastic syndrome +2 more | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +2 more | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | |
| | | Duplication (frameshift variant) | Bohring-Opitz syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | GATA2 deficiency with susceptibility to MDS/AML +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +6 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +4 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Uterine carcinosarcoma +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Uterine carcinosarcoma +8 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +5 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Adenoid cystic carcinoma +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Enchondromatosis +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myelodysplastic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Bohring-Opitz syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome progressed to acute myeloid leukemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral palsy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +14 more | |
| | | Deletion (inframe_deletion) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute megakaryoblastic leukemia in down syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of urinary bladder +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | GPathogenic/Likely pathogenic |