| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neutropenia +1 more | |
| | EPHX1, TMEM63A (T146M +4 more) | Single nucleotide variant (missense variant +1 more) | Neutropenia +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (nonsense) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia +1 more | |
| | LOC126863334, MAGEC1 (M1T) | Single nucleotide variant (missense variant +1 more) | Neutropenia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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