Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 76 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | Immunodeficiency 76 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Immunodeficiency 76 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 76 +1 more | |
| | | Duplication (frameshift variant) | Immunodeficiency 76 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 76 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 76 +1 more | |
Click to view in NCBI Gene