| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more | |
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