| | | Copy number loss | See cases | |
| | LOC130006596, LOC130006597 +387 more | Copy number loss | See cases | |
| | LOC132089949, LOC132089950 +149 more | Copy number loss | See cases | |
| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | 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 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Metaphyseal anadysplasia +1 more | |
| | | Duplication (3 prime UTR variant) | Spondyloepimetaphyseal dysplasia +2 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 | |
| | | Duplication (3 prime UTR variant) | Spondyloepimetaphyseal dysplasia +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 | |
| | | Duplication (3 prime UTR variant) | Spondyloepimetaphyseal dysplasia +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 | GConflicting classifications of pathogenicity |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Spahr type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | MMP13-related disorder | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal anadysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Metaphyseal anadysplasia +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal anadysplasia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | MMP13-related disorder | |