| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +823 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcytic anemia | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Microcytic anemia | |
| | | Single nucleotide variant (intron variant) | Microcytic anemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Iron-refractory iron deficiency anemia +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Microcytic anemia | |
| | | Single nucleotide variant (missense variant) | Iron-refractory iron deficiency anemia | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | TMPRSS6-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Iron-refractory iron deficiency anemia | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Iron-refractory iron deficiency anemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Iron-refractory iron deficiency anemia | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia | |
| | | Insertion (frameshift variant) | Iron-refractory iron deficiency anemia | |
| | | Microsatellite (splice acceptor variant) | TMPRSS6-related disorder | |
| | | Microsatellite (splice acceptor variant) | not provided | |
| | | Microsatellite (splice acceptor variant) | not provided | |
| | | Microsatellite (splice acceptor variant) | not provided | |
| | | Microsatellite (splice acceptor variant) | TMPRSS6-related disorder | |
| | | Microsatellite (splice acceptor variant) | not provided | |
| | | Microsatellite (splice acceptor variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Iron-refractory iron deficiency anemia | |
| | | Single nucleotide variant (nonsense) | Iron-refractory iron deficiency anemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcytic anemia | |
| | | Single nucleotide variant (missense variant) | TMPRSS6-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Iron-refractory iron deficiency anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Microcytic anemia +1 more | |