| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Smith-Magenis Syndrome-like +1 more | GConflicting classifications of pathogenicity |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
Click to view in NCBI Gene