| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
Click to view in NCBI Gene