| | DYNC2I2, LOC126860772 (G392S) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (Q385H) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (R373L) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (R330C) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (R321W) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (G302R) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (V286M) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (R283C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DYNC2I2, LOC126860772 (R257C) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | DYNC2I2, LOC126860772 (R249H) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DYNC2I2, LOC126860772 (E241K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |