| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | LOC106029312, NCF1 (N166D) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
Click to view in NCBI Gene