| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | G6PC3, LOC130060959 (S61R) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
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