| | | Single nucleotide variant (nonsense +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | TRNT1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa and erythrocytic microcytosis | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa and erythrocytic microcytosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa and erythrocytic microcytosis +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa and erythrocytic microcytosis +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | |
| | | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | |
| | | Deletion (inframe_deletion +1 more) | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | |
| | | Single nucleotide variant (intron variant) | TRNT1-related disorder +3 more | GConflicting classifications of pathogenicity |