| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | ELANE-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | ELANE-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | ELANE-related disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | ELANE-related disorder | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Insertion (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (nonsense) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Deletion (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Deletion (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Duplication (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Deletion (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (stop lost) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Deletion (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Deletion (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (nonsense) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Duplication (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ELANE-related disorder | |
| | | Single nucleotide variant (missense variant) | ELANE-related disorder | |
| | | Single nucleotide variant (missense variant) | ELANE-related disorder | |
| | | Single nucleotide variant (missense variant) | ELANE-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel +1 more) | Cyclical neutropenia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |