| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Deletion (nonsense +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +2 more | |
Click to view in NCBI Gene