| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KDELR2, LOC129997936 (K22M) | Single nucleotide variant (missense variant) | not specified | |
| | KDELR2, LOC129997936 (W24S) | Single nucleotide variant (missense variant) | not specified | |
| | KDELR2, LOC129997936 (R5W) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, type 21 | |
| | KDELR2, LOC129997936 (H12D) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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