| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126861318, MMP13 (V101L) | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | GConflicting classifications of pathogenicity |
| | LOC126861318, MMP13 (R18W) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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