| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hydrops fetalis +6 more | |
| | | Single nucleotide variant (missense variant) | FAT4-related disorder +8 more | |
| | | Single nucleotide variant (missense variant) | Stereotypic movement disorder +22 more | |
Click to view in NCBI Gene