| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Metaphyseal anadysplasia +3 more | |
| | LOC126861318, MMP13 (R109*) | Single nucleotide variant (nonsense) | Metaphyseal chondrodysplasia, Spahr type +1 more | GPathogenic/Likely pathogenic |
| | LOC126861318, MMP13 (R69L) | Single nucleotide variant (missense variant) | Metaphyseal chondrodysplasia, Spahr type | |
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