Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | COPD, severe early onset +2 more | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Heme oxygenase 1 deficiency | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Microsatellite (frameshift variant) | Heme oxygenase 1 deficiency | |
| | | Deletion (splice acceptor variant) | Heme oxygenase 1 deficiency | |
Click to view in NCBI Gene