Related gene-specific medical variations for Gene (Select 860) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362238	NM_001024630.4(RUNX2):c.274_280del (p.Arg92fs)	RUNX2 (R78fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 3361799	NM_001024630.4(RUNX2):c.526A>C (p.Lys176Gln)	RUNX2 (K162Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246085	NC_000006.11:g.(?_45459658)_(45480164_?)del	RUNX2	Deletion	not provided	GPathogenic
Select item 3237479	NM_001024630.4(RUNX2):c.1021+2T>C	RUNX2	Single nucleotide variant (splice donor variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 3157203	NM_001024630.4(RUNX2):c.236C>T (p.Ala79Val)	LOC109611589, RUNX2 (A65V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157202	NM_001024630.4(RUNX2):c.218C>A (p.Ala73Glu)	LOC109611589, RUNX2 (A59E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056647	NM_001024630.4(RUNX2):c.234GGC[4] (p.Ala89del)	LOC109611589, RUNX2 (A75del +1 more)	Microsatellite (inframe_indel)	RUNX2-related disorder	GLikely benign
Select item 3056020	NM_001024630.4(RUNX2):c.177GCA[5] (p.Gln71del)	LOC109611589, RUNX2 (Q57del +1 more)	Microsatellite (inframe_indel)	RUNX2-related disorder	GLikely benign
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 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 3000008	NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
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 2963644	NM_001024630.4(RUNX2):c.261_263dup (p.Ala89_Val90insAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
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 2885780	NM_001024630.4(RUNX2):c.249T>G (p.Ala83=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2859807	NM_001024630.4(RUNX2):c.205C>T (p.Gln69Ter)	LOC109611589, RUNX2 (Q55* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2797574	NM_001024630.4(RUNX2):c.58+18T>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	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 2754949	NM_001024630.4(RUNX2):c.186G>A (p.Gln62=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2734874	NM_001024630.4(RUNX2):c.196C>T (p.Gln66Ter)	LOC109611589, RUNX2 (Q66* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2721787	NM_001024630.4(RUNX2):c.168_194dup (p.Gln71_Glu72insGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	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 2690690	NM_001024630.4(RUNX2):c.495del (p.Ala166fs)	RUNX2 (A152fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2598989	NM_001024630.4(RUNX2):c.43C>A (p.Gln15Lys)	RUNX2, SUPT3H (Q15K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2572649	NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs)	LOC109611589, RUNX2 (Q44fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 2430470	NM_001024630.4(RUNX2):c.238G>T (p.Ala80Ser)	LOC109611589, RUNX2 (A66S +1 more)	Single nucleotide variant (missense variant)	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 2189554	NM_001024630.4(RUNX2):c.153G>A (p.Gln51=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2165278	NM_001024630.4(RUNX2):c.231_239dup (p.Ala89_Val90insAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
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 2136397	NM_001024630.4(RUNX2):c.190C>T (p.Gln64Ter)	LOC109611589, RUNX2 (Q50* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2088645	NM_001024630.4(RUNX2):c.231T>A (p.Ala77=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2028746	NM_001024630.4(RUNX2):c.174_179del (p.Gln70_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
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 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 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 1902215	NM_001024630.4(RUNX2):c.249_257dup (p.Ala89_Val90insAlaAlaAla)	LOC109611589, RUNX2	Duplication (inframe_insertion +1 more)	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 1577874	NM_001024630.4(RUNX2):c.58+9T>C	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely 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 1563906	NM_001024630.4(RUNX2):c.228G>A (p.Ala76=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1534082	NM_001024630.4(RUNX2):c.222G>A (p.Ala74=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1521900	NM_001024630.4(RUNX2):c.228_248del (p.Ala83_Ala89del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	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 1496105	NM_001024630.4(RUNX2):c.234GGC[6] (p.Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	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 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 1456832	NM_001024630.4(RUNX2):c.184C>T (p.Gln62Ter)	LOC109611589, RUNX2 (Q62* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1443625	NM_001024630.4(RUNX2):c.216G>C (p.Glu72Asp)	LOC109611589, RUNX2 (E72D +1 more)	Single nucleotide variant (missense variant)	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 1429046	NM_001024630.4(RUNX2):c.196CAG[7] (p.Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	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 1411304	NM_001024630.4(RUNX2):c.249_254dup (p.Ala88_Ala89dup)	LOC109611589, RUNX2	Duplication (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 1392475	NM_001024630.4(RUNX2):c.190_213del (p.Gln64_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	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 1360365	NM_001024630.4(RUNX2):c.239_240insAGCGGCGGCTGCGGCGGC (p.Ala84_Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1351643	NM_001024630.4(RUNX2):c.231_236del (p.Ala88_Ala89del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1338512	NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG (p.Glu72fs)	LOC109611589, RUNX2 (E58fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1337138	NM_001024630.4(RUNX2):c.201G>A (p.Gln67=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1319362	NM_003599.4(SUPT3H):c.-1+5881del	RUNX2, SUPT3H	Deletion (intron variant)	not provided	GUncertain significance
Select item 1277725	NM_001024630.4(RUNX2):c.58+97T>C	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207597	NM_001024630.4(RUNX2):c.-66T>C	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1196317	NM_001024630.4(RUNX2):c.-66-59A>G	LOC109611593, RUNX2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1161520	NM_001024630.4(RUNX2):c.58+7G>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1132909	NM_001024630.4(RUNX2):c.174A>G (p.Gln58=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1059365	NM_001024630.4(RUNX2):c.228_260dup (p.Ala79_Ala89dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1056240	NM_001024630.4(RUNX2):c.195_209dup (p.Gln67_Gln71dup)	LOC109611589, RUNX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1036921	NM_001024630.4(RUNX2):c.177GCA[8] (p.Gln70_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
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 1010237	NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[3] (p.Gln65_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 994177	NM_001024630.4(RUNX2):c.219G>T (p.Ala73=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987110	NM_001024630.4(RUNX2):c.1208dup (p.Val404fs)	RUNX2 (V368fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 976311	NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter)	LOC109611589, RUNX2 (Q57* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 916707	NM_001024630.4(RUNX2):c.29dup (p.Thr11fs)	RUNX2, SUPT3H (T11fs)	Duplication (frameshift variant +2 more)	Cleidocranial dysostosis	GPathogenic
Select item 916702	NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs)	LOC109611589, RUNX2 (Q54fs +1 more)	Indel (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
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 911151	NM_001024630.4(RUNX2):c.54T>C (p.Phe18=)	RUNX2, SUPT3H	Single nucleotide variant (synonymous variant +2 more)	Cleidocranial dysostosis	GUncertain significance
Select item 870903	NM_001024630.4(RUNX2):c.1085C>T (p.Ala362Val)	RUNX2 (A348V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 859144	NM_001024630.4(RUNX2):c.216GGC[6] (p.Ala89dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 845536	NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[1] (p.Gln67_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 691870	NM_001024630.3:c.(58+1_59-269)_(859+1_860-1)dup	RUNX2	Duplication	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	GPathogenic
Select item 685964	GRCh37/hg19 6p21.1(chr6:45352106-45382450)x1	RUNX2	Copy number loss	not provided	GUncertain significance
Select item 634442	NM_001024630.4(RUNX2):c.3G>A (p.Met1Ile)	RUNX2, SUPT3H (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic

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