| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 15 | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
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