| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 8 with or without polydactyly +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Asphyxiating thoracic dystrophy 3 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
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