| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC106029312, NCF1 (Y97fs) | Duplication (frameshift variant) | not provided | |
| | LOC106029312, NCF1 (W193*) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene