| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | IL2RG, LOC126863274 (N33S) | Single nucleotide variant (missense variant) | not provided | |
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