| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | INTU, LOC123480930 (N787fs) | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 20 with polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene