| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| | | Single nucleotide variant (missense variant) | Chronic granulomatous disease +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | GPathogenic/Likely pathogenic |
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