Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypoplastic aortic arch +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypoplastic aortic arch +1 more | |
| | | Translocation | Hypotonia +11 more | |
Click to view in NCBI Gene