| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC106029312, NCF1 (Y26fs) | Microsatellite (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | LOC106029312, NCF1 (C111*) | Single nucleotide variant (nonsense) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | LOC106029312, NCF1 (E168fs) | Deletion (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | LOC106029312, NCF1 (G192S) | Single nucleotide variant (missense variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
| | LOC106029312, NCF1 (V271fs) | Deletion (frameshift variant) | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | |
Click to view in NCBI Gene