| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ITGAV deficiency | |
| | | Single nucleotide variant (missense variant) | ITGAV deficiency | |
| | | Deletion (splice donor variant) | ITGAV deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | ITGAV deficiency | |
Click to view in NCBI Gene