| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | |
| | | Deletion | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 +2 more | |
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