| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Deafness-lymphedema-leukemia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | GATA2-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deafness-lymphedema-leukemia syndrome +5 more | |
Click to view in NCBI Gene