| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia +4 more | |
| | | Single nucleotide variant (missense variant) | Inflammatory bowel disease, immunodeficiency, and encephalopathy +4 more | |
Click to view in NCBI Gene