| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLPB, LOC126861258 (L419F +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CLPB, LOC126861258 (E360* +3 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | CLPB, LOC126861258 (H359Q +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CLPB, LOC126861258 (M411I +3 more) | Single nucleotide variant (missense variant) | 3-methylglutaconic aciduria, type VIIB +2 more | GConflicting classifications of pathogenicity |
| | CLPB, LOC126861258 (R408G +3 more) | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 9, autosomal dominant +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene