| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly 13, X-linked +4 more | |
| | | Single nucleotide variant (intron variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
Click to view in NCBI Gene