| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LNCSRLR, LOC123192011
+16 more | Copy number loss | See cases | |
| | LNCSRLR, LOC129389144
+1 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC129389144, PLOD2 (D147H) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129389144, PLOD2 (K128E) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta +2 more | |
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