Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | X-linked cerebral adrenoleukodystrophy | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene