| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | LOC109611589, RUNX2 (Q44fs +1 more) | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (nonsense) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (nonsense +1 more) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more | |
| | | Duplication (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (splice donor variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | LOC109611589, RUNX2 (Q57* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Duplication (frameshift variant +2 more) | Cleidocranial dysostosis | |
| | | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | LOC109611589, RUNX2 (Q54fs +1 more) | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (intron variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | LOC109611589, RUNX2 (Q45R +1 more) | Single nucleotide variant (missense variant) | Cleidocranial dysostosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (nonsense) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (synonymous variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC109611589, RUNX2 (A59fs +1 more) | Deletion (frameshift variant) | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC109611589, RUNX2 (A79fs +1 more) | Insertion (frameshift variant) | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Deletion (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Deletion (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Microsatellite (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Cleidocranial dysostosis | |