| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DYNC2I2, LOC126860772 (G356S) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +2 more | |
| | DYNC2I2, LOC126860772 (T354M) | Single nucleotide variant (missense variant) | DYNC2I2-related disorder | |
| | DYNC2I2, LOC126860772 (G293W) | Single nucleotide variant (missense variant) | DYNC2I2-related disorder | |
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