ClinVar for MedGen (Select 3486) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25784181.	NM_001024630.4(RUNX2):c.571A>G (p.Ser191Gly) GRCh37: Chr6:45399747 GRCh38: Chr6:45432010	RUNX2	S177G, S191G	Cleidocranial dysostosis	Likely pathogenic (Sep 4, 2023)	criteria provided, single submitter
Select item 25731032.	NM_001024630.4(RUNX2):c.300_316del (p.Thr101fs) GRCh37: Chr6:45390571-45390587 GRCh38: Chr6:45422834-45422850	RUNX2	T101fs, T87fs	Cleidocranial dysostosis	Pathogenic	criteria provided, single submitter
Select item 25726493.	NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs) GRCh37: Chr6:45390442-45390496 GRCh38: Chr6:45422705-45422759	LOC109611589, RUNX2	Q44fs, Q58fs	Cleidocranial dysostosis	Likely pathogenic (Mar 31, 2023)	criteria provided, single submitter
Select item 24442844.	NM_001024630.4(RUNX2):c.1127del (p.Phe376fs) GRCh37: Chr6:45514602 GRCh38: Chr6:45546865	RUNX2	F340fs, F354fs, F362fs, F376fs	Cleidocranial dysostosis	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 17123345.	NM_001024630.4(RUNX2):c.424-1G>C GRCh37: Chr6:45399599 GRCh38: Chr6:45431862	RUNX2		Cleidocranial dysostosis	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 17081456.	NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys) GRCh37: Chr6:45390631 GRCh38: Chr6:45422894	RUNX2	N106K, N120K	Cleidocranial dysostosis	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 17056577.	NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu) GRCh37: Chr6:45390671 GRCh38: Chr6:45422934	RUNX2	K120E, K134E	Cleidocranial dysostosis	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 16988438.	NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) GRCh37: Chr6:45399682 GRCh38: Chr6:45431945	RUNX2	R155Q, R169Q	Cleidocranial dysostosis	Pathogenic (Sep 18, 2020)	criteria provided, single submitter
Select item 16988049.	NM_001024630.4(RUNX2):c.884del (p.Pro295fs) GRCh37: Chr6:45480004 GRCh38: Chr6:45512267	RUNX2	P281fs, P295fs	Cleidocranial dysostosis	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 169133610.	NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs) GRCh37: Chr6:45390675-45390679 GRCh38: Chr6:45422938-45422942	RUNX2	L122fs, L136fs	Cleidocranial dysostosis	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 168613411.	NM_001024630.4(RUNX2):c.581-1G>A GRCh37: Chr6:45405683 GRCh38: Chr6:45437946	RUNX2		Cleidocranial dysostosis	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 133933912.	NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu) GRCh37: Chr6:45405777 GRCh38: Chr6:45438040	RUNX2	R211L, R225L	Cleidocranial dysostosis	not provided	no assertion provided
Select item 132823613.	NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) GRCh37: Chr6:45480058 GRCh38: Chr6:45512321	RUNX2	S298F, S312F	Cleidocranial dysostosis	Uncertain significance	no assertion criteria provided
Select item 118569914.	NM_001024630.4(RUNX2):c.739del (p.Ser247fs) GRCh37: Chr6:45459731 GRCh38: Chr6:45491994	RUNX2	S233fs, S247fs	Cleidocranial dysostosis	Pathogenic	criteria provided, single submitter
Select item 118569815.	NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter) GRCh37: Chr6:45480024 GRCh38: Chr6:45512287	RUNX2	Q287, Q301	Cleidocranial dysostosis	Pathogenic	criteria provided, single submitter
Select item 118569716.	NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter) GRCh37: Chr6:45513013 GRCh38: Chr6:45545276	RUNX2	Q347, Q361	Cleidocranial dysostosis	Pathogenic	criteria provided, single submitter
Select item 117572517.	NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu) GRCh37: Chr6:45399715 GRCh38: Chr6:45431978	RUNX2	A166E, A180E	Cleidocranial dysostosis	Pathogenic (Jun 17, 2021)	criteria provided, single submitter
Select item 116220418.	NM_001024630.4(RUNX2):c.483_485del (p.Asp161del) GRCh37: Chr6:45399657-45399659 GRCh38: Chr6:45431920-45431922	RUNX2	D147del, D161del	Cleidocranial dysostosis	Likely pathogenic (Nov 7, 2019)	criteria provided, single submitter
Select item 107156319.	NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) GRCh37: Chr6:45399744 GRCh38: Chr6:45432007	RUNX2	R176W, R190W	not specified, not provided, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis	Pathogenic (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103254520.	NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu) GRCh37: Chr6:45479986 GRCh38: Chr6:45512249	RUNX2	P288L, P274L	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis, Cleidocranial dysostosis	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97869821.	NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs) GRCh37: Chr6:45405737-45405738 GRCh38: Chr6:45438000-45438001	RUNX2	Y199fs, Y213fs	Cleidocranial dysostosis	Pathogenic (Aug 28, 2020)	no assertion criteria provided
Select item 97869722.	NM_001024630.4(RUNX2):c.423+2del GRCh37: Chr6:45390696 GRCh38: Chr6:45422959	RUNX2		Cleidocranial dysostosis	Likely pathogenic (Aug 28, 2020)	no assertion criteria provided
Select item 97847323.	NM_001024630.4(RUNX2):c.1191del (p.Phe398fs) GRCh37: Chr6:45514666 GRCh38: Chr6:45546929	RUNX2	F362fs, F376fs, F384fs, F398fs	Cleidocranial dysostosis	Pathogenic (Jul 1, 2020)	criteria provided, single submitter
Select item 97631124.	NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) GRCh37: Chr6:45390482 GRCh38: Chr6:45422745	LOC109611589, RUNX2	Q57, Q71	not provided, Cleidocranial dysostosis	Likely pathogenic (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92906325.	NM_001024630.4(RUNX2):c.90del (p.Ser31fs) GRCh37: Chr6:45390355 GRCh38: Chr6:45422618	RUNX2	S17fs, S31fs	Cleidocranial dysostosis	Likely pathogenic (Jul 11, 2019)	criteria provided, single submitter
Select item 91670826.	NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer) GRCh37: Chr6:45405697-45405698 GRCh38: Chr6:45437960-45437961	RUNX2		Cleidocranial dysostosis	Pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670727.	NM_001024630.4(RUNX2):c.29dup (p.Thr11fs) GRCh37: Chr6:45296491-45296492 GRCh38: Chr6:45328754-45328755	RUNX2, SUPT3H	T11fs	Cleidocranial dysostosis	Pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670628.	NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs) GRCh37: Chr6:45399619-45399630 GRCh38: Chr6:45431882-45431893	RUNX2	V148fs, V134fs	Cleidocranial dysostosis	Pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670529.	NM_001024630.4(RUNX2):c.1281del (p.Gly428fs) GRCh37: Chr6:45514754 GRCh38: Chr6:45547017	RUNX2	G392fs, G406fs, G414fs, G428fs	Cleidocranial dysostosis	Pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670430.	NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val) GRCh37: Chr6:45514564 GRCh38: Chr6:45546827	RUNX2	G327V, G341V, G349V, G363V	Cleidocranial dysostosis	Likely pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670331.	NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) GRCh37: Chr6:45399681 GRCh38: Chr6:45431944	RUNX2	R155W, R169W	not provided	Pathogenic/Likely pathogenic (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91670232.	NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) GRCh37: Chr6:45390474 GRCh38: Chr6:45422737	LOC109611589, RUNX2	Q54fs, Q68fs	Cleidocranial dysostosis	Likely pathogenic (May 23, 2020)	no assertion criteria provided
Select item 91670133.	NM_001024630.4(RUNX2):c.685+5G>A GRCh37: Chr6:45405793 GRCh38: Chr6:45438056	RUNX2		Cleidocranial dysostosis	Uncertain significance (May 23, 2020)	no assertion criteria provided
Select item 91148834.	NM_001024630.4(RUNX2):c.*3111T>C GRCh37: Chr6:45518153 GRCh38: Chr6:45550416	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91148735.	NM_001024630.4(RUNX2):c.*3052C>A GRCh37: Chr6:45518094 GRCh38: Chr6:45550357	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91148636.	NM_001024630.4(RUNX2):c.*3047A>C GRCh37: Chr6:45518089 GRCh38: Chr6:45550352	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91142537.	NM_001024630.4(RUNX2):c.*1708T>C GRCh37: Chr6:45516750 GRCh38: Chr6:45549013	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91142438.	NM_001024630.4(RUNX2):c.*1696C>T GRCh37: Chr6:45516738 GRCh38: Chr6:45549001	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91142339.	NM_001024630.4(RUNX2):c.*1673G>A GRCh37: Chr6:45516715 GRCh38: Chr6:45548978	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91142240.	NM_001024630.4(RUNX2):c.*1648T>C GRCh37: Chr6:45516690 GRCh38: Chr6:45548953	RUNX2		Cleidocranial dysostosis	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 91135841.	NM_001024630.4(RUNX2):c.1204C>T (p.Pro402Ser) GRCh37: Chr6:45514680 GRCh38: Chr6:45546943	RUNX2	P366S, P402S, P380S, P388S	Cleidocranial dysostosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91135742.	NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) GRCh37: Chr6:45480061 GRCh38: Chr6:45512324	RUNX2	P299Q, P313Q	Inborn genetic diseases, Cleidocranial dysostosis	Uncertain significance (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91135643.	NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala) GRCh37: Chr6:45405716 GRCh38: Chr6:45437979	RUNX2	T191A, T205A	Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91122544.	NM_001024630.4(RUNX2):c.*1376C>T GRCh37: Chr6:45516418 GRCh38: Chr6:45548681	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91122445.	NM_001024630.4(RUNX2):c.*1174A>C GRCh37: Chr6:45516216 GRCh38: Chr6:45548479	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91122346.	NM_001024630.4(RUNX2):c.*1133A>T GRCh37: Chr6:45516175 GRCh38: Chr6:45548438	RUNX2		Cleidocranial dysostosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91115647.	NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) GRCh37: Chr6:45399699 GRCh38: Chr6:45431962	RUNX2	M161V, M175V	Cleidocranial dysostosis, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 91115548.	NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn) GRCh37: Chr6:45399657 GRCh38: Chr6:45431920	RUNX2	D147N, D161N	not provided, Cleidocranial dysostosis	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91115449.	NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) GRCh37: Chr6:45390569 GRCh38: Chr6:45422832	RUNX2	R100S, R86S	Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91115350.	NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg) GRCh37: Chr6:45390447 GRCh38: Chr6:45422710	LOC109611589, RUNX2	Q45R, Q59R	Cleidocranial dysostosis, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 91115251.	NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu) GRCh37: Chr6:45390395 GRCh38: Chr6:45422658	RUNX2	V42L, V28L	Inborn genetic diseases, Cleidocranial dysostosis, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 91115152.	NM_001024630.4(RUNX2):c.54T>C (p.Phe18=) GRCh37: Chr6:45296517 GRCh38: Chr6:45328780	RUNX2, SUPT3H		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91026853.	NM_001024630.4(RUNX2):c.*2619A>G GRCh37: Chr6:45517661 GRCh38: Chr6:45549924	RUNX2		not provided, Cleidocranial dysostosis	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 91026754.	NM_001024630.4(RUNX2):c.*2520T>C GRCh37: Chr6:45517562 GRCh38: Chr6:45549825	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90929355.	NM_001024630.4(RUNX2):c.*2381C>T GRCh37: Chr6:45517423 GRCh38: Chr6:45549686	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90929256.	NM_001024630.4(RUNX2):c.*2236T>G GRCh37: Chr6:45517278 GRCh38: Chr6:45549541	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90923057.	NM_001024630.4(RUNX2):c.*801G>A GRCh37: Chr6:45515843 GRCh38: Chr6:45548106	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90922958.	NM_001024630.4(RUNX2):c.*549C>T GRCh37: Chr6:45515591 GRCh38: Chr6:45547854	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90851759.	NM_001024630.4(RUNX2):c.*3543T>A GRCh37: Chr6:45518585 GRCh38: Chr6:45550848	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90851660.	NM_001024630.4(RUNX2):c.*3426C>T GRCh37: Chr6:45518468 GRCh38: Chr6:45550731	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90845061.	NM_001024630.4(RUNX2):c.*1948G>A GRCh37: Chr6:45516990 GRCh38: Chr6:45549253	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90844962.	NM_001024630.4(RUNX2):c.*1917G>T GRCh37: Chr6:45516959 GRCh38: Chr6:45549222	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90844863.	NM_001024630.4(RUNX2):c.*1876A>T GRCh37: Chr6:45516918 GRCh38: Chr6:45549181	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90844764.	NM_001024630.4(RUNX2):c.*1816C>G GRCh37: Chr6:45516858 GRCh38: Chr6:45549121	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90838265.	NM_001024630.4(RUNX2):c.*278G>A GRCh37: Chr6:45515320 GRCh38: Chr6:45547583	RUNX2		not provided, Cleidocranial dysostosis	Benign/Likely benign (Jan 19, 2019)	criteria provided, multiple submitters, no conflicts
Select item 90838166.	NM_001024630.4(RUNX2):c.*262A>G GRCh37: Chr6:45515304 GRCh38: Chr6:45547567	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90838067.	NM_001024630.4(RUNX2):c.*155A>G GRCh37: Chr6:45515197 GRCh38: Chr6:45547460	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90837968.	NM_001024630.4(RUNX2):c.*56A>G GRCh37: Chr6:45515098 GRCh38: Chr6:45547361	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 82986869.	NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter) GRCh37: Chr6:45399753 GRCh38: Chr6:45432016	RUNX2	R179, R193	not provided	Pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82816970.	NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) GRCh37: Chr6:45390639 GRCh38: Chr6:45422902	RUNX2	C123Y, C109Y	Cleidocranial dysostosis	Uncertain significance (Feb 5, 2020)	no assertion criteria provided
Select item 80222071.	NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter) GRCh37: Chr6:45390642 GRCh38: Chr6:45422905	RUNX2	S124, S110	Cleidocranial dysostosis	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 69472072.	NM_001024630.4(RUNX2):c.738C>T (p.Leu246=) GRCh37: Chr6:45459730 GRCh38: Chr6:45491993	RUNX2		Cleidocranial dysostosis	Pathogenic	criteria provided, single submitter
Select item 63444173.	NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) GRCh37: Chr6:45514855 GRCh38: Chr6:45547118	RUNX2	P460L, P438L, P424L, P446L	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis, not provided	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54861274.	NM_001024630.4(RUNX2):c.217del (p.Ala73fs) GRCh37: Chr6:45390487 GRCh38: Chr6:45422750	LOC109611589, RUNX2	A59fs, A73fs	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis	Conflicting interpretations of pathogenicity (Mar 5, 2018)	criteria provided, conflicting interpretations
Select item 54861175.	NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) GRCh37: Chr6:45390504-45390505 GRCh38: Chr6:45422767-45422768	LOC109611589, RUNX2	A79fs, A65fs	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 54849676.	NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) GRCh37: Chr6:45390418-45390419 GRCh38: Chr6:45422681-45422682	LOC109611589, RUNX2		not provided, Cleidocranial dysostosis	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43793477.	Single allele GRCh38: Chr6:45512244	RUNX2		Cleidocranial dysostosis	Pathogenic (Aug 31, 2016)	no assertion criteria provided
Select item 38154678.	NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) GRCh37: Chr6:45399745 GRCh38: Chr6:45432008	RUNX2	R190Q, R176Q	not provided, Cleidocranial dysostosis	Pathogenic/Likely pathogenic (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35714879.	NM_001024630.4(RUNX2):c.*3693A>G GRCh37: Chr6:45518735 GRCh38: Chr6:45550998	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35714780.	NM_001024630.4(RUNX2):c.*3642C>T GRCh37: Chr6:45518684 GRCh38: Chr6:45550947	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35714681.	NM_001024630.4(RUNX2):c.*3605C>T GRCh37: Chr6:45518647 GRCh38: Chr6:45550910	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35714582.	NM_001024630.4(RUNX2):c.*3592A>G GRCh37: Chr6:45518634 GRCh38: Chr6:45550897	RUNX2		Cleidocranial dysostosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35714483.	NM_001024630.4(RUNX2):c.*3345G>A GRCh37: Chr6:45518387 GRCh38: Chr6:45550650	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35714384.	NM_001024630.4(RUNX2):c.*3329T>C GRCh37: Chr6:45518371 GRCh38: Chr6:45550634	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35714285.	NM_001024630.4(RUNX2):c.*3218A>G GRCh37: Chr6:45518260 GRCh38: Chr6:45550523	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35714186.	NM_001024630.4(RUNX2):c.*3160G>T GRCh37: Chr6:45518202 GRCh38: Chr6:45550465	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35714087.	NM_001024630.4(RUNX2):c.*3159C>T GRCh37: Chr6:45518201 GRCh38: Chr6:45550464	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35713988.	NM_001024630.4(RUNX2):c.*3030C>T GRCh37: Chr6:45518072 GRCh38: Chr6:45550335	RUNX2		Cleidocranial dysostosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35713889.	NM_001024630.4(RUNX2):c.*2890A>G GRCh37: Chr6:45517932 GRCh38: Chr6:45550195	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35713790.	NM_001024630.4(RUNX2):c.*2880C>A GRCh37: Chr6:45517922 GRCh38: Chr6:45550185	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35713691.	NM_001024630.4(RUNX2):c.*2845A>C GRCh37: Chr6:45517887 GRCh38: Chr6:45550150	RUNX2		Cleidocranial dysostosis, not provided	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 35713592.	NM_001024630.4(RUNX2):c.*2826G>A GRCh37: Chr6:45517868 GRCh38: Chr6:45550131	RUNX2		Cleidocranial dysostosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35713493.	NM_001024630.4(RUNX2):c.*2786A>G GRCh37: Chr6:45517828 GRCh38: Chr6:45550091	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35713394.	NM_001024630.4(RUNX2):c.*2712del GRCh37: Chr6:45517740 GRCh38: Chr6:45550003	RUNX2		Cleidocranial dysostosis	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35713295.	NM_001024630.4(RUNX2):c.*2697del GRCh37: Chr6:45517739 GRCh38: Chr6:45550002	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35713196.	NM_001024630.4(RUNX2):c.*2689CTTT[2] GRCh37: Chr6:45517728-45517731 GRCh38: Chr6:45549991-45549994	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35713097.	NM_001024630.4(RUNX2):c.*2657T>G GRCh37: Chr6:45517699 GRCh38: Chr6:45549962	RUNX2		Cleidocranial dysostosis	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35712998.	NM_001024630.4(RUNX2):c.*2622G>C GRCh37: Chr6:45517664 GRCh38: Chr6:45549927	RUNX2		Cleidocranial dysostosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35712899.	NM_001024630.4(RUNX2):c.*2612C>G GRCh37: Chr6:45517654 GRCh38: Chr6:45549917	RUNX2		Cleidocranial dysostosis	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 357127100.	NM_001024630.4(RUNX2):c.*2479C>A GRCh37: Chr6:45517521 GRCh38: Chr6:45549784	RUNX2		Cleidocranial dysostosis	Likely benign (Apr 27, 2017)	criteria provided, single submitter

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