Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Glutaryl-CoA oxidase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Glutaryl-CoA oxidase deficiency | |
| | | Single nucleotide variant (nonsense) | Glutaryl-CoA oxidase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Glutaryl-CoA oxidase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene