| | | Duplication (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Insertion (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Microsatellite (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Duplication (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Deletion (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Deletion (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Microsatellite (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Microsatellite (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (nonsense +1 more) | Metaphyseal chondrodysplasia, Schmid type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Metaphyseal chondrodysplasia, Schmid type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Metaphyseal chondrodysplasia, Schmid type | |