| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062964, LOC130062965 +321 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062905, LOC130062906 +301 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | ELANE-related condition | |
| | | Single nucleotide variant (genic upstream transcript variant) | ELANE-related condition | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | Neutropenia, severe congenital, 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | ELANE-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | ELANE-related condition | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Microsatellite (inframe_insertion) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +3 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +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 (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ELANE-related condition | |
| | | Single nucleotide variant (synonymous variant) | Cyclical neutropenia +2 more | |
| | | Deletion (splice donor variant) | not provided | |
| | | 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 (splice donor variant) | Cyclical neutropenia +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 (intron variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | not provided | |
| | | Deletion (frameshift variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +1 more | |
| | | Deletion (frameshift variant) | Neutropenia, severe congenital, 1, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | ELANE-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 1, autosomal dominant +1 more | |