| | MMP13, LOC126861318 (L77S) | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type | |
| | LOC126861318, MMP13 (V79E) | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861318, MMP13 (F75L) | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal anadysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Metaphyseal anadysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spondyloepimetaphyseal dysplasia, Missouri type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | MMP13, LOC126861318 (M71T) | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type +1 more | |
| | LOC126861318, MMP13 (R18W) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | GConflicting classifications of pathogenicity |
| | LOC126861318, MMP13 (V101L) | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, Missouri type +3 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, Missouri type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC126861318, MMP13 (M91T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861318, MMP13 (F75S) | Single nucleotide variant (missense variant) | not provided | |