| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | GATA2 deficiency with susceptibility to MDS/AML +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +2 more | |
Click to view in NCBI Gene