ClinVar for Gene (Select 860) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347501	NM_001024630.4(RUNX2):c.685+26444A>G	RUNX2	Single nucleotide variant (intron variant)	RUNX2-related disorder	GUncertain significance
Select item 3346984	NM_001024630.4(RUNX2):c.685+26426G>A	RUNX2	Single nucleotide variant (intron variant)	RUNX2-related disorder	GBenign
Select item 3345352	NM_001024630.4(RUNX2):c.685+26477C>T	RUNX2	Single nucleotide variant (intron variant)	RUNX2-related disorder	GBenign
Select item 3344790	NM_001024630.4(RUNX2):c.509A>C (p.Asn170Thr)	RUNX2 (N156T +1 more)	Single nucleotide variant (missense variant)	RUNX2-related disorder	GUncertain significance
Select item 3342021	NM_001024630.4(RUNX2):c.1235T>C (p.Met412Thr)	RUNX2 (M376T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340830	NM_001024630.4(RUNX2):c.480C>G (p.Asn160Lys)	RUNX2 (N146K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340497	NM_001024630.4(RUNX2):c.622C>T (p.Pro208Ser)	RUNX2 (P194S +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 3337529	NM_001024630.4(RUNX2):c.401A>C (p.Lys134Thr)	RUNX2 (K120T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3315808	NM_001024630.4(RUNX2):c.89C>A (p.Pro30His)	RUNX2 (P30H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315807	NM_001024630.4(RUNX2):c.938C>G (p.Pro313Arg)	RUNX2 (P299R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315806	NM_001024630.4(RUNX2):c.1129C>A (p.Pro377Thr)	RUNX2 (P341T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315804	NM_001024630.4(RUNX2):c.910C>T (p.Pro304Ser)	RUNX2 (P290S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315803	NM_001024630.4(RUNX2):c.904T>G (p.Ser302Ala)	RUNX2 (S288A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246086	NC_000006.11:g.(?_45479963)_(45923001_?)del	CLIC5, RUNX2	Deletion	not provided	GPathogenic
Select item 3246085	NC_000006.11:g.(?_45459658)_(45480164_?)del	RUNX2	Deletion	not provided	GPathogenic
Select item 3246084	NC_000006.11:g.(?_45296464)_(45405808_?)del	RUNX2, SUPT3H	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 3157204	NM_001024630.4(RUNX2):c.62C>T (p.Pro21Leu)	RUNX2 (P7L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3148899	GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1	CLIC5, ENPP4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3062909	GRCh37/hg19 6p21.1(chr6:45343870-45508016)x3	RUNX2, SUPT3H	Copy number gain	not specified	GPathogenic
Select item 3062891	GRCh37/hg19 6p21.1(chr6:45284656-45370308)x3	RUNX2, SUPT3H	Copy number gain	not specified	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 3019125	NM_001024630.4(RUNX2):c.348C>G (p.Thr116=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3018872	NM_001024630.4(RUNX2):c.423+20C>A	RUNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018796	NM_001024630.4(RUNX2):c.685+11C>T	RUNX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3018557	NM_001024630.4(RUNX2):c.1240G>A (p.Ala414Thr)	RUNX2 (A400T +3 more)	Single nucleotide variant (missense variant)	not provided	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 3015674	NM_001024630.4(RUNX2):c.1453C>T (p.Pro485Ser)	RUNX2 (P449S +3 more)	Single nucleotide variant (missense variant)	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 3011539	NM_001024630.4(RUNX2):c.1087+14C>T	RUNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010002	NM_001024630.4(RUNX2):c.984G>T (p.Gly328=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003237	NM_001024630.4(RUNX2):c.1281C>T (p.Pro427=)	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 2999723	NM_001024630.4(RUNX2):c.1222A>G (p.Met408Val)	RUNX2 (M386V +3 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 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 2986404	NM_001024630.4(RUNX2):c.1022-16C>T	RUNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980044	NM_001024630.4(RUNX2):c.939G>A (p.Pro313=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968946	NM_001024630.4(RUNX2):c.581-15C>T	RUNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966454	NM_001024630.4(RUNX2):c.1442C>T (p.Thr481Met)	RUNX2 (T445M +3 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 2962546	NM_001024630.4(RUNX2):c.1187C>T (p.Ala396Val)	RUNX2 (A374V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958386	NM_001024630.4(RUNX2):c.1434T>C (p.Asn478=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957627	NM_001024630.4(RUNX2):c.618T>C (p.Asn206=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906768	NM_001024630.4(RUNX2):c.1271C>A (p.Pro424Gln)	RUNX2 (P410Q +3 more)	Single nucleotide variant (missense variant)	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 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 2898072	NM_001024630.4(RUNX2):c.1257C>T (p.His419=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895935	NM_001024630.4(RUNX2):c.775G>A (p.Val259Ile)	RUNX2 (V259I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892215	NM_001024630.4(RUNX2):c.1470G>A (p.Gln490=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887493	NM_001024630.4(RUNX2):c.1413G>T (p.Pro471=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2878510	NM_001024630.4(RUNX2):c.570G>A (p.Arg190=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874215	NM_001024630.4(RUNX2):c.1513A>G (p.Thr505Ala)	RUNX2 (T483A +3 more)	Single nucleotide variant (missense 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 2859543	NM_001024630.4(RUNX2):c.1021+3A>T	RUNX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2854871	NM_001024630.4(RUNX2):c.556A>G (p.Arg186Gly)	RUNX2 (R172G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2853483	NM_001024630.4(RUNX2):c.925C>T (p.Gln309Ter)	RUNX2 (Q309* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2845731	NM_001024630.4(RUNX2):c.581-2del	RUNX2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2839973	NM_001024630.4(RUNX2):c.1171C>A (p.Arg391=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836537	NM_001024630.4(RUNX2):c.852del (p.Ile285fs)	RUNX2 (I285fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2829893	NM_001024630.4(RUNX2):c.388T>G (p.Trp130Gly)	RUNX2 (W116G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827490	NM_001024630.4(RUNX2):c.1205C>T (p.Pro402Leu)	RUNX2 (P388L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822622	NM_001024630.4(RUNX2):c.1356A>G (p.Gly452=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2820160	NM_001024630.4(RUNX2):c.374TGC[1] (p.Leu126del)	RUNX2 (L126del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2816948	NM_001024630.4(RUNX2):c.69C>G (p.Thr23=)	RUNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814436	NM_001024630.4(RUNX2):c.1478G>C (p.Gly493Ala)	RUNX2 (G493A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813767	NM_001024630.4(RUNX2):c.578G>T (p.Arg193Leu)	RUNX2 (R179L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808063	NM_001024630.4(RUNX2):c.665A>T (p.Asp222Val)	RUNX2 (D208V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801475	NM_001024630.4(RUNX2):c.680C>G (p.Pro227Arg)	RUNX2 (P213R +1 more)	Single nucleotide variant (missense variant)	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 2796418	NM_001024630.4(RUNX2):c.1385del (p.Gly462fs)	RUNX2 (G440fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2795357	NM_001024630.4(RUNX2):c.908A>T (p.Tyr303Phe)	RUNX2 (Y303F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2778074	NM_001024630.4(RUNX2):c.685+18T>C	RUNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771792	NM_001024630.4(RUNX2):c.681del (p.Arg228fs)	RUNX2 (R228fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2771433	NM_001024630.4(RUNX2):c.1128C>G (p.Phe376Leu)	RUNX2 (F354L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770009	NM_001024630.4(RUNX2):c.1342G>A (p.Gly448Ser)	RUNX2 (G412S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2766022	NM_001024630.4(RUNX2):c.470_472delinsATC (p.Met157_Ala158delinsAsnPro)	RUNX2	Indel (missense variant)	not provided	GUncertain significance
Select item 2760147	NM_001024630.4(RUNX2):c.917del (p.Tyr306fs)	RUNX2 (Y306fs +1 more)	Deletion (frameshift variant)	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 2748277	NM_001024630.4(RUNX2):c.860-1G>A	RUNX2	Single nucleotide variant (splice acceptor variant)	Cleidocranial dysostosis +1 more	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 2734883	NM_001024630.4(RUNX2):c.838C>T (p.Gln280Ter)	RUNX2 (Q266* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734882	NM_001024630.4(RUNX2):c.682A>G (p.Arg228Gly)	RUNX2 (R214G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734881	NM_001024630.4(RUNX2):c.590T>C (p.Phe197Ser)	RUNX2 (F197S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2734880	NM_001024630.4(RUNX2):c.560T>C (p.Phe187Ser)	RUNX2 (F187S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734879	NM_001024630.4(RUNX2):c.391C>G (p.Arg131Gly)	RUNX2 (R131G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2734877	NM_001024630.4(RUNX2):c.389G>A (p.Trp130Ter)	RUNX2 (W116* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734876	NM_001024630.4(RUNX2):c.388T>A (p.Trp130Arg)	RUNX2 (W130R +1 more)	Single nucleotide variant (missense variant)	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 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 2729445	NM_001024630.4(RUNX2):c.59-2A>G	RUNX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 2721882	NM_001024630.4(RUNX2):c.296A>T (p.Asn99Ile)	RUNX2 (N99I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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