"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RUNX2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1942097	NM_001024630.4(RUNX2):c.14G>C (p.Ser5Thr)	RUNX2, SUPT3H (S5T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3012176	NM_001024630.4(RUNX2):c.34C>T (p.Pro12Ser)	RUNX2, SUPT3H (P12S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1161520	NM_001024630.4(RUNX2):c.58+7G>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577874	NM_001024630.4(RUNX2):c.58+9T>C	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797574	NM_001024630.4(RUNX2):c.58+18T>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164339	NM_001024630.4(RUNX2):c.59-1041T>C	RUNX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902600	NM_001024630.4(RUNX2):c.59-10A>T	RUNX2 (I3F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1463122	NM_001024630.4(RUNX2):c.59-6C>T	RUNX2 (P4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2729445	NM_001024630.4(RUNX2):c.59-2A>G	RUNX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 2741107	NM_001024630.4(RUNX2):c.63G>C (p.Pro21=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816948	NM_001024630.4(RUNX2):c.69C>G (p.Thr23=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377457	NM_001024630.4(RUNX2):c.74G>A (p.Arg25Gln)	RUNX2 (R25Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523388	NM_001024630.4(RUNX2):c.77G>C (p.Arg26Pro)	RUNX2 (R26P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056229	NM_001024630.4(RUNX2):c.85C>A (p.Pro29Thr)	RUNX2 (P29T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998706	NM_001024630.4(RUNX2):c.87C>T (p.Pro29=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303448	NM_001024630.4(RUNX2):c.88C>G (p.Pro30Ala)	RUNX2 (P16A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933920	NM_001024630.4(RUNX2):c.97A>T (p.Ser33Cys)	RUNX2 (S19C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898096	NM_001024630.4(RUNX2):c.100C>G (p.Leu34Val)	RUNX2 (L20V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978282	NM_001024630.4(RUNX2):c.104A>T (p.Gln35Leu)	RUNX2 (Q21L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358664	NM_001024630.4(RUNX2):c.109G>T (p.Gly37Cys)	RUNX2 (G37C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911152	NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu)	RUNX2 (V42L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1373526	NM_001024630.4(RUNX2):c.138_175dup (p.Gln59fs)	RUNX2 (Q59fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1444467	NM_001024630.4(RUNX2):c.159_185dup (p.Gln63_Gln71dup)	RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1062153	NM_001024630.4(RUNX2):c.147ACAGCAGCAGCA[1] (p.Gln68_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 548496	NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	Cleidocranial dysostosis +1 more	GUncertain significance
Select item 3017746	NM_001024630.4(RUNX2):c.174_209del (p.Gln60_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2734873	NM_001024630.4(RUNX2):c.148C>T (p.Gln50Ter)	LOC109611589, RUNX2 (Q36* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 845536	NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[1] (p.Gln67_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 500283	NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)	LOC109611589, RUNX2 (Q51K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2189554	NM_001024630.4(RUNX2):c.153G>A (p.Gln51=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721787	NM_001024630.4(RUNX2):c.168_194dup (p.Gln71_Glu72insGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2179319	NM_001024630.4(RUNX2):c.159A>G (p.Gln53=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160044	NM_001024630.4(RUNX2):c.162GCA[5] (p.Gln71_Glu72insGln)	LOC109611589, RUNX2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1010237	NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[3] (p.Gln65_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2719910	NM_001024630.4(RUNX2):c.174_191del (p.Gln66_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 196302	NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1329578	NM_001024630.4(RUNX2):c.174_185dup (p.Gln68_Gln71dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2020304	NM_001024630.4(RUNX2):c.163C>T (p.Gln55Ter)	LOC109611589, RUNX2 (Q55* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2028746	NM_001024630.4(RUNX2):c.174_179del (p.Gln70_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2883924	NM_001024630.4(RUNX2):c.177GCA[9] (p.Gln71_Glu72insGlnGlnGln)	LOC109611589, RUNX2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2820432	NM_001024630.4(RUNX2):c.177GCA[15] (p.Gln71_Glu72insGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC109611589, RUNX2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1490475	NM_001024630.4(RUNX2):c.177GCA[11] (p.Gln67_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1192123	NM_001024630.4(RUNX2):c.177GCA[7] (p.Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 1132909	NM_001024630.4(RUNX2):c.174A>G (p.Gln58=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036921	NM_001024630.4(RUNX2):c.177GCA[8] (p.Gln70_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1392475	NM_001024630.4(RUNX2):c.190_213del (p.Gln64_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 911153	NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg)	LOC109611589, RUNX2 (Q45R +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GConflicting classifications of pathogenicity
Select item 1128357	NM_001024630.4(RUNX2):c.177G>A (p.Gln59=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056240	NM_001024630.4(RUNX2):c.195_209dup (p.Gln67_Gln71dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1456832	NM_001024630.4(RUNX2):c.184C>T (p.Gln62Ter)	LOC109611589, RUNX2 (Q62* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754949	NM_001024630.4(RUNX2):c.186G>A (p.Gln62=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089848	NM_001024630.4(RUNX2):c.187C>T (p.Gln63Ter)	LOC109611589, RUNX2 (Q49* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2136397	NM_001024630.4(RUNX2):c.190C>T (p.Gln64Ter)	LOC109611589, RUNX2 (Q50* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2074477	NM_001024630.4(RUNX2):c.191A>G (p.Gln64Arg)	LOC109611589, RUNX2 (Q50R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706950	NM_001024630.4(RUNX2):c.194_286del (p.Gln65_Pro95del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2189575	NM_001024630.4(RUNX2):c.193_231del (p.Gln65_Ala77del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1429046	NM_001024630.4(RUNX2):c.196CAG[7] (p.Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1121355	NM_001024630.4(RUNX2):c.195A>G (p.Gln65=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2769121	NM_001024630.4(RUNX2):c.196CAG[4] (p.Gln70_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2734874	NM_001024630.4(RUNX2):c.196C>T (p.Gln66Ter)	LOC109611589, RUNX2 (Q66* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734875	NM_001024630.4(RUNX2):c.199C>T (p.Gln67Ter)	LOC109611589, RUNX2 (Q53* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1022116	NM_001024630.4(RUNX2):c.199_200del (p.Gln67fs)	LOC109611589, RUNX2 (Q53fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2859807	NM_001024630.4(RUNX2):c.205C>T (p.Gln69Ter)	LOC109611589, RUNX2 (Q55* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2988054	NM_001024630.4(RUNX2):c.210G>T (p.Gln70His)	LOC109611589, RUNX2 (Q56H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534081	NM_001024630.4(RUNX2):c.210G>A (p.Gln70=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903269	NM_001024630.4(RUNX2):c.212AGG[3] (p.Glu72_Ala73insGlu)	LOC109611589, RUNX2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1502799	NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[3] (p.Ala84_Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1429898	NM_001024630.4(RUNX2):c.216GGC[7] (p.Ala88_Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 859144	NM_001024630.4(RUNX2):c.216GGC[6] (p.Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1901227	NM_001024630.4(RUNX2):c.231_245dup (p.Ala89_Val90insAlaAlaAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1521900	NM_001024630.4(RUNX2):c.228_248del (p.Ala83_Ala89del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1443625	NM_001024630.4(RUNX2):c.216G>C (p.Glu72Asp)	LOC109611589, RUNX2 (E72D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414475	NM_001024630.4(RUNX2):c.216GGC[4] (p.Ala89del)	LOC109611589, RUNX2 (A75del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1059365	NM_001024630.4(RUNX2):c.228_260dup (p.Ala79_Ala89dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 257095	NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 1576519	NM_001024630.4(RUNX2):c.219G>A (p.Ala73=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478949	NM_001024630.4(RUNX2):c.221C>A (p.Ala74Glu)	LOC109611589, RUNX2 (A60E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165278	NM_001024630.4(RUNX2):c.231_239dup (p.Ala89_Val90insAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1534082	NM_001024630.4(RUNX2):c.222G>A (p.Ala74=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360365	NM_001024630.4(RUNX2):c.239_240insAGCGGCGGCTGCGGCGGC (p.Ala84_Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1135849	NM_001024630.4(RUNX2):c.222G>C (p.Ala74=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000008	NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1534083	NM_001024630.4(RUNX2):c.225G>A (p.Ala75=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351643	NM_001024630.4(RUNX2):c.231_236del (p.Ala88_Ala89del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1563906	NM_001024630.4(RUNX2):c.228G>A (p.Ala76=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088645	NM_001024630.4(RUNX2):c.231T>A (p.Ala77=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496105	NM_001024630.4(RUNX2):c.234GGC[6] (p.Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1408906	NM_001024630.4(RUNX2):c.234GGC[2] (p.Ala87_Ala89del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2060210	NM_001024630.4(RUNX2):c.233C>A (p.Ala78Glu)	LOC109611589, RUNX2 (A64E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377609	NM_001024630.4(RUNX2):c.246_260dup (p.Ala85_Ala89dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1902215	NM_001024630.4(RUNX2):c.249_257dup (p.Ala89_Val90insAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 196301	NM_001024630.4(RUNX2):c.240G>A (p.Ala80=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	Cleidocranial dysostosis +2 more	GBenign
Select item 1411304	NM_001024630.4(RUNX2):c.249_254dup (p.Ala88_Ala89dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2000427	NM_001024630.4(RUNX2):c.247G>T (p.Ala83Ser)	LOC109611589, RUNX2 (A83S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885780	NM_001024630.4(RUNX2):c.249T>G (p.Ala83=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376847	NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val)	LOC109611589, RUNX2 (A85V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2963644	NM_001024630.4(RUNX2):c.261_263dup (p.Ala89_Val90insAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1411501	NM_001024630.4(RUNX2):c.274dup (p.Arg92fs)	RUNX2 (R78fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1071561	NM_001024630.4(RUNX2):c.274del (p.Arg92fs)	RUNX2 (R78fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1016635	NM_001024630.4(RUNX2):c.275G>A (p.Arg92Gln)	RUNX2 (R78Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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