| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Indel (nonsense) | Purine-nucleoside phosphorylase deficiency | |
| | | Single nucleotide variant (nonsense) | Purine-nucleoside phosphorylase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Purine-nucleoside phosphorylase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene