| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 7 with or without polydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +3 more | GConflicting classifications of pathogenicity |
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