| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, cardiac valvular type | |
| | | Deletion (splice donor variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +1 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
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