| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene