| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IFTAP, LOC130005577
+1 more | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Histiocytic medullary reticulosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more | |
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