| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 78 with autoimmunity and developmental delay | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 78 with autoimmunity and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 78 with autoimmunity and developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 78 with autoimmunity and developmental delay +1 more | |
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