| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | LOC106029312, NCF1 (W193*) | Single nucleotide variant (nonsense) | Chronic granulomatous disease +2 more | GPathogenic/Likely pathogenic |
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