NM_001024630.4(RUNX2):c.604del (p.Thr202fs)Pathogenic
not provided
β
β
ββ2026β Residue 202
NM_001024630.4(RUNX2):c.659C>T (p.Thr220Ile)Pathogenic
not provided
β
β
ββ2025β Residue 220
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)Pathogenic
Cleidocranial dysostosis|not provided|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis|RUNX2-related disorder
β
β
ββ2025β Residue 225
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)Pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2025β Residue 31
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln)Pathogenic
Cleidocranial dysostosis|not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β
β
ββ2025β Residue 190
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)Pathogenic
not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β
β
ββ2025β Residue 190
NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)Pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2025β Residue 193
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)Pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2025β Residue 225
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp)Pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2025β Residue 169
NM_001024630.4(RUNX2):c.1385dup (p.Asp463fs)Pathogenic
not provided
β
β
ββ2025β Residue 463
NM_001024630.4(RUNX2):c.1085C>T (p.Ala362Val)Pathogenic
not provided
β
β
ββ2025β Residue 362
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)Pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2025β Residue 391
NM_001024630.4(RUNX2):c.578G>A (p.Arg193Gln)Pathogenic
not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β
β
ββ2024β Residue 193
NM_001024630.4(RUNX2):c.860-1G>ALikely pathogenic
not provided|Cleidocranial dysostosis
β
β
ββ2024
NM_001024630.4(RUNX2):c.860-1G>TPathogenic
not provided
β
β
ββ2024
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs)Pathogenic
not provided|Cleidocranial dysostosis|Inborn genetic diseases
β
β
ββ2022β Residue 463
NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter)Pathogenic
not provided|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β
β
ββ2022β Residue 290
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter)Likely pathogenic
Cleidocranial dysostosis|not provided
β
β
ββ2021β Residue 71
NM_001024630.4(RUNX2):c.90del (p.Ser31fs)Likely pathogenic
Cleidocranial dysostosis|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β
β
ββ2019β Residue 31
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp)Pathogenic
Cleidocranial dysostosis
β
β
ββ2015β Residue 159