List of variants in gene RUNX2 reported as pathogenic for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter)	rs2150452063
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)	rs397515537
NM_001024630.4(RUNX2):c.1191del (p.Phe398fs)	rs1802417423
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs)	rs730880314
NM_001024630.4(RUNX2):c.1228dup (p.Leu410fs)	rs730880315
NM_001024630.4(RUNX2):c.1281del (p.Gly428fs)	rs1802421481
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs)	rs1582232661
NM_001024630.4(RUNX2):c.1565G>C (p.Ter522Ser)	rs104893994
NM_001024630.4(RUNX2):c.300_316del (p.Thr101fs)
NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys)
NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter)	rs1582095109
NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs)	rs2150362655
NM_001024630.4(RUNX2):c.424-1G>C
NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs)	rs1798551566
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp)	rs864621970
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln)	rs104893995
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro)	rs104893995
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)	rs104893989
NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu)	rs2150368229
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)	rs2150368246
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn)	rs104893990
NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)	rs1582105417
NM_001024630.4(RUNX2):c.581-1G>A	rs2150371825
NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer)	rs1798733144
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)	rs104893993
NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs)	rs1798735440
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)	rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)	rs104893991
NM_001024630.4(RUNX2):c.738C>T (p.Leu246=)	rs1582169095
NM_001024630.4(RUNX2):c.739del (p.Ser247fs)	rs2150407600
NM_001024630.4(RUNX2):c.884del (p.Pro295fs)	rs2150421218
NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter)	rs104893988
NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter)	rs758120505
Single allele

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