| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Skeletal dysplasia, mild, with joint laxity and advanced bone age | |
| | | Single nucleotide variant (missense variant +1 more) | Skeletal dysplasia, mild, with joint laxity and advanced bone age +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Skeletal dysplasia, mild, with joint laxity and advanced bone age | |
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