| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Baralle-Macken syndrome | |
| | | Single nucleotide variant (missense variant) | Baralle-Macken syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Baralle-Macken syndrome | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene