| | | Single nucleotide variant (nonsense) | Severe congenital neutropenia | |
| | | Single nucleotide variant (splice donor variant) | Severe congenital neutropenia +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | |
| | | Single nucleotide variant (splice donor variant) | Severe congenital neutropenia | |
| | | Single nucleotide variant (missense variant) | Shwachman-Diamond syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Shwachman-Diamond syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency with T and B cell lymphopenia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 76 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Severe congenital neutropenia | |
| | | Duplication (frameshift variant) | Immunodeficiency 76 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 76 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 76 +1 more | |
| | | | Severe congenital neutropenia | |
| | | Deletion (frameshift variant +1 more) | Severe congenital neutropenia +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (3 prime UTR variant) | Severe congenital neutropenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe congenital neutropenia | |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +3 more | |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Neutropenia, severe congenital, 2, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant) | Severe congenital neutropenia | |
| | | Single nucleotide variant (nonsense) | Severe congenital neutropenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe congenital neutropenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe congenital neutropenia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | Severe congenital neutropenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe congenital neutropenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe congenital neutropenia +2 more | GConflicting classifications of pathogenicity |