Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Deletion (frameshift variant) | Neutropenia, severe congenital, 9, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | 3-methylglutaconic aciduria, type VIIB | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 9, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 9, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylglutaconic aciduria, type VIIA +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 3-methylglutaconic aciduria, type VIIB +2 more | |
| | | Single nucleotide variant (missense variant) | 3-methylglutaconic aciduria, type VIIB +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neutropenia, severe congenital, 9, autosomal dominant +4 more | |
| | LOC126861258, CLPB (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 |
Click to view in NCBI Gene