| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLPB, LOC126861258 (R417* +3 more) | Single nucleotide variant (nonsense) | Neutropenia, severe congenital, 9, autosomal dominant +3 more | |
| | CLPB, LOC126861258 (R408G +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
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