| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Poikiloderma with neutropenia +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Duplication | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (missense variant) | Poikiloderma with neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Poikiloderma with neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Poikiloderma with neutropenia | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (nonsense) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (nonsense) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (nonsense) | Poikiloderma with neutropenia | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Poikiloderma with neutropenia | |
| | | Deletion (frameshift variant) | Poikiloderma with neutropenia | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Poikiloderma with neutropenia | |
| | | Deletion (frameshift variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (missense variant +1 more) | Poikiloderma with neutropenia | |
| | | Deletion (splice donor variant) | Poikiloderma with neutropenia | |
| | | Single nucleotide variant (splice acceptor variant) | Poikiloderma with neutropenia | |