| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
Click to view in NCBI Gene