| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | CYB5R3, LOC130067609 (S6G) | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | CYB5R3-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | CYB5R3, LOC130067609 (M1V) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase +1 more | |
| | | Single nucleotide variant (nonsense) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Deficiency of cytochrome-b5 reductase +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase +1 more | |
| | | Duplication (frameshift variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Hereditary methemoglobinemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |