| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Deletion | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Deletion | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Duplication | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (splice donor variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | CYBA-related disorder | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Deletion (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Deletion (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Deletion (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (splice acceptor variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Duplication (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Duplication (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (synonymous variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (splice donor variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Indel (inframe_indel) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | KBG syndrome | |
| | LOC130059772, LOC130059773 +138 more | Deletion | KBG syndrome | |
| | LOC121587566, LOC121587567 +218 more | Deletion | KBG syndrome | |