Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Nonimmune chronic idiopathic neutropenia of adults +2 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Nonimmune chronic idiopathic neutropenia of adults +2 more | |
| | | Microsatellite (intron variant) | Nonimmune chronic idiopathic neutropenia of adults +3 more | |
| | | Single nucleotide variant (synonymous variant) | Nonimmune chronic idiopathic neutropenia of adults +3 more | |
| | | Microsatellite (intron variant) | Severe congenital neutropenia +3 more | |
| | | Microsatellite (intron variant) | Severe congenital neutropenia +2 more | GConflicting classifications of pathogenicity |
| | GFI1, LOC129930930 (K403R) | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 2, autosomal dominant | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene