| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Urofacial syndrome type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Urofacial syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Ochoa syndrome | |
| | | Variation | Ochoa syndrome | |
| | | Deletion | Ochoa syndrome | |
Click to view in NCBI Gene