| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | G6PC3, LOC130060959 (Y48*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | G6PC3, LOC130060959 (F71fs) | Deletion (frameshift variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
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