| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
| | | Single nucleotide variant (nonsense) | Severe dermatitis-multiple allergies-metabolic wasting syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene