| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Metaphyseal chondrodysplasia, Spahr type +2 more | GPathogenic/Likely pathogenic |
| | LOC126861318, MMP13 (N51D) | Single nucleotide variant (missense variant) | not provided | |
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