| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I +7 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | COL1A1, LOC126862586 (G257R) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, arthrochalasia type +10 more | |
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