| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 17 with or without polydactyly | |
| | DYNLT2B, TM4SF19-DYNLT2B (V34fs) | Indel (frameshift variant) | Short-rib thoracic dysplasia 17 with or without polydactyly | |
Click to view in NCBI Gene