| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Duplication | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Duplication | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +4 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +4 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +4 more | |
| | | Duplication | Metaphyseal chondrodysplasia, McKusick type +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Duplication | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia +3 more | |
| | | Duplication | Anauxetic dysplasia +3 more | |
| | | Duplication | Metaphyseal chondrodysplasia, McKusick type +3 more | GPathogenic/Likely pathogenic |
| | | Duplication | Metaphyseal chondrodysplasia, McKusick type +2 more | |
| | | Duplication | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type | |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +4 more | |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +3 more | |
| | | Duplication | Metaphyseal chondrodysplasia, McKusick type +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite | Anauxetic dysplasia +3 more | |
| | | Duplication | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +3 more | |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication | Metaphyseal chondrodysplasia, McKusick type +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | Anauxetic dysplasia 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Anauxetic dysplasia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not specified +5 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +5 more | |
| | | Single nucleotide variant | Anauxetic dysplasia +4 more | GPathogenic/Likely pathogenic |
| | | Indel | Anauxetic dysplasia | |
| | | Single nucleotide variant | Anauxetic dysplasia | |
| | | Insertion | Anauxetic dysplasia 1 | |
| | | Duplication | Anauxetic dysplasia +4 more | |
| | | Duplication | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Duplication | Anauxetic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Metaphyseal chondrodysplasia, McKusick type +3 more | |
| | | Single nucleotide variant (non-coding transcript variant) | RMRP-related condition +5 more | GPathogenic/Likely pathogenic |