| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +15 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia - Sutcliffe type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Metatropic dysplasia +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spondylometaphyseal dysplasia +8 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +14 more | |
| | | Single nucleotide variant (nonsense) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Spondyloperipheral dysplasia +14 more | GPathogenic/Likely pathogenic |