"GeneReviews"[submitter] AND "RUNX2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65626	NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)	RUNX2 (S17fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 9304	NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)	RUNX2 (T200A +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GPathogenic
Select item 9303	NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)	RUNX2 (R225W +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GPathogenic
Select item 1339339	NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu)	RUNX2 (R211L +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	Gnot provided
Select item 9302	NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)	RUNX2 (R225Q +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +2 more	GPathogenic
Select item 65625	NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)	RUNX2 (R391* +3 more)	Single nucleotide variant (nonsense)	Cleidocranial dysostosis +1 more	GPathogenic
Select item 9301	NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs)	RUNX2 (P389fs +3 more)	Duplication (frameshift variant)	Cleidocranial dysostosis	GPathogenic

ClinVar