| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DYNC2I2, LOC126860772 (G393S) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | GConflicting classifications of pathogenicity |
| | DYNC2I2, LOC126860772 (T354A) | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | GPathogenic/Likely pathogenic |
| | DYNC2I2, LOC126860772 (F312S) | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene