Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +7 more | |
| | | Deletion (splice acceptor variant +1 more) | Cutaneous photosensitivity +4 more | |
| | | Single nucleotide variant (missense variant) | Cutaneous photosensitivity +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene