| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Combined immunodeficiency due to LRBA deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (nonsense) | Combined immunodeficiency due to LRBA deficiency | |
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