| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DYNC2I2, LOC126860772 (E368fs) | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | GPathogenic/Likely pathogenic |
| | DYNC2I2, LOC126860772 (V269L) | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
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