| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Kostmann syndrome | |
| | | Deletion (frameshift variant) | Kostmann syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | HAX1-related disorder | |
| | | Microsatellite (inframe_insertion +1 more) | Kostmann syndrome | |
| | | Duplication (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Deletion (nonsense) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Insertion (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Deletion (intron variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Deletion (frameshift variant +1 more) | Kostmann syndrome | |
| | | Deletion (frameshift variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Deletion (frameshift variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (missense variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Duplication (frameshift variant) | Kostmann syndrome | |
| | | Single nucleotide variant (missense variant) | Kostmann syndrome | |
| | | Deletion (frameshift variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Deletion (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (nonsense) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Microsatellite (intron variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kostmann syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | HAX1-related disorder | |
| | | Microsatellite (inframe_indel +2 more) | HAX1-related disorder | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Copy number loss | Kostmann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Severe congenital neutropenia | |
| | | Single nucleotide variant (missense variant) | Kostmann syndrome | |
| | | Deletion | Kostmann syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Kostmann syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Kostmann syndrome | |