| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (splice donor variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
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