Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | Hereditary methemoglobinemia | |
| | | Single nucleotide variant (missense variant) | Deficiency of cytochrome-b5 reductase +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary methemoglobinemia +1 more | |
Click to view in NCBI Gene