ClinVar for MedGen (Select 393713) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24237201.	NC_000001.10:g.(?_236849974)_(236925919_?)del GRCh37: Chr1:236849974-236925919	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 24237192.	NC_000001.10:g.(?_236917227)_(236920952_?)dup GRCh37: Chr1:236917227-236920952	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 24237183.	NC_000001.10:g.(?_236849974)_(236850119_?)dup GRCh37: Chr1:236849974-236850119	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24237174.	NC_000001.10:g.(?_236906176)_(236925919_?)del GRCh37: Chr1:236906176-236925919	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24237165.	NC_000001.10:g.(?_236902582)_(236902852_?)del GRCh37: Chr1:236902582-236902852	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 24134446.	NM_001103.4(ACTN2):c.449-17C>G GRCh37: Chr1:236889216 GRCh38: Chr1:236725916	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 22030047.	NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu) GRCh37: Chr1:236881161 GRCh38: Chr1:236717861	ACTN2	F44L	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 22009368.	NM_001103.4(ACTN2):c.2662C>T (p.Leu888Phe) GRCh37: Chr1:236925896 GRCh38: Chr1:236762596	ACTN2	L680F, L638F, L888F	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 21996469.	NM_001103.4(ACTN2):c.2436A>T (p.Gln812His) GRCh37: Chr1:236924383 GRCh38: Chr1:236761083	ACTN2	Q604H, Q812H, Q562H	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 219963510.	NM_001103.4(ACTN2):c.504T>C (p.Tyr168=) GRCh37: Chr1:236889288 GRCh38: Chr1:236725988	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219721911.	NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys) GRCh37: Chr1:236900425 GRCh38: Chr1:236737125	ACTN2	E13K, E263K, E55K	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 219396012.	NM_001103.4(ACTN2):c.698-11_698-10delinsAA GRCh37: Chr1:236898924-236898925 GRCh38: Chr1:236735624-236735625	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 219032513.	NM_001103.4(ACTN2):c.2036A>G (p.Lys679Arg) GRCh37: Chr1:236918380 GRCh38: Chr1:236755080	ACTN2	K679R, K471R, K429R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 219022614.	NM_001103.4(ACTN2):c.1256-4G>A GRCh37: Chr1:236907922 GRCh38: Chr1:236744622	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 218771515.	NM_001103.4(ACTN2):c.2304G>A (p.Arg768=) GRCh37: Chr1:236923026 GRCh38: Chr1:236759726	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 218684116.	NM_001103.4(ACTN2):c.1998G>C (p.Gln666His) GRCh37: Chr1:236918342 GRCh38: Chr1:236755042	ACTN2	Q458H, Q666H, Q416H	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 218574917.	NM_001103.4(ACTN2):c.1108-20T>G GRCh37: Chr1:236906176 GRCh38: Chr1:236742876	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 218557418.	NM_001103.4(ACTN2):c.1005G>A (p.Val335=) GRCh37: Chr1:236902730 GRCh38: Chr1:236739430	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 218536019.	NM_001103.4(ACTN2):c.2120T>C (p.Val707Ala) GRCh37: Chr1:236918464 GRCh38: Chr1:236755164	ACTN2	V499A, V707A, V457A	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 218177020.	NM_001103.4(ACTN2):c.1604C>T (p.Ala535Val) GRCh37: Chr1:236912512 GRCh38: Chr1:236749212	ACTN2	A327V, A535V, A285V	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 217780621.	NM_001103.4(ACTN2):c.2392A>G (p.Met798Val) GRCh37: Chr1:236924339 GRCh38: Chr1:236761039	ACTN2	M590V, M798V, M548V	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 217603822.	NM_001103.4(ACTN2):c.998C>G (p.Pro333Arg) GRCh37: Chr1:236902723 GRCh38: Chr1:236739423	ACTN2	P83R, P125R, P333R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 217594923.	NM_001103.4(ACTN2):c.363A>G (p.Glu121=) GRCh37: Chr1:236883406 GRCh38: Chr1:236720106	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 217232624.	NM_001103.4(ACTN2):c.2506C>T (p.Arg836Trp) GRCh37: Chr1:236924453 GRCh38: Chr1:236761153	ACTN2	R586W, R628W, R836W	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 216708325.	NM_001103.4(ACTN2):c.2088G>A (p.Glu696=) GRCh37: Chr1:236918432 GRCh38: Chr1:236755132	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 216668426.	NM_001103.4(ACTN2):c.868G>A (p.Ala290Thr) GRCh37: Chr1:236900506 GRCh38: Chr1:236737206	ACTN2	A82T, A290T, A40T	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 216534527.	NM_001103.4(ACTN2):c.2171G>A (p.Trp724Ter) GRCh37: Chr1:236920802 GRCh38: Chr1:236757502	ACTN2	W474, W516, W724*	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 216522628.	NM_001103.4(ACTN2):c.1670C>T (p.Ala557Val) GRCh37: Chr1:236914783 GRCh38: Chr1:236751483	ACTN2	A557V, A349V, A307V	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 216327129.	NM_001103.4(ACTN2):c.2214G>A (p.Val738=) GRCh37: Chr1:236920845 GRCh38: Chr1:236757545	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 215852330.	NM_001103.4(ACTN2):c.1974+12C>T GRCh37: Chr1:236917393 GRCh38: Chr1:236754093	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 215409931.	NM_001103.4(ACTN2):c.46G>A (p.Glu16Lys) GRCh37: Chr1:236850019 GRCh38: Chr1:236686719	ACTN2	E16K	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 215358032.	NM_001103.4(ACTN2):c.2010C>T (p.Ala670=) GRCh37: Chr1:236918354 GRCh38: Chr1:236755054	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 215310233.	NM_001103.4(ACTN2):c.2016A>G (p.Glu672=) GRCh37: Chr1:236918360 GRCh38: Chr1:236755060	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 215269934.	NM_001103.4(ACTN2):c.702C>T (p.Ile234=) GRCh37: Chr1:236898939 GRCh38: Chr1:236735639	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 215178135.	NM_001103.4(ACTN2):c.1388C>G (p.Ala463Gly) GRCh37: Chr1:236908058 GRCh38: Chr1:236744758	ACTN2	A213G, A463G, A255G	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 215141536.	NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp) GRCh37: Chr1:236907968 GRCh38: Chr1:236744668	ACTN2	S183W, S225W, S433W	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214997737.	NM_001103.4(ACTN2):c.449-7A>G GRCh37: Chr1:236889226 GRCh38: Chr1:236725926	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 214958338.	NM_001103.4(ACTN2):c.1811T>C (p.Met604Thr) GRCh37: Chr1:236914924 GRCh38: Chr1:236751624	ACTN2	M604T, M354T, M396T	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 214630939.	NM_001103.4(ACTN2):c.362-19G>A GRCh37: Chr1:236883386 GRCh38: Chr1:236720086	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 214450740.	NM_001103.4(ACTN2):c.2155-13T>C GRCh37: Chr1:236920773 GRCh38: Chr1:236757473	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 214447241.	NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser) GRCh37: Chr1:236914882 GRCh38: Chr1:236751582	ACTN2	N340S, N590S, N382S	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Dec 16, 2022)	criteria provided, conflicting interpretations
Select item 214175242.	NM_001103.4(ACTN2):c.242-14T>G GRCh37: Chr1:236882180 GRCh38: Chr1:236718880	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214130843.	NM_001103.4(ACTN2):c.616-15T>C GRCh37: Chr1:236894518 GRCh38: Chr1:236731218	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 214127044.	NM_001103.4(ACTN2):c.698-13T>C GRCh37: Chr1:236898922 GRCh38: Chr1:236735622	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 213400845.	NM_001103.4(ACTN2):c.1109A>T (p.Asp370Val) GRCh37: Chr1:236906197 GRCh38: Chr1:236742897	ACTN2	D120V, D162V, D370V	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 213252946.	NM_001103.4(ACTN2):c.2178G>C (p.Leu726=) GRCh37: Chr1:236920809 GRCh38: Chr1:236757509	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 212832647.	NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg) GRCh37: Chr1:236850038 GRCh38: Chr1:236686738	ACTN2	Q22R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212618548.	NM_001103.4(ACTN2):c.2212G>A (p.Val738Met) GRCh37: Chr1:236920843 GRCh38: Chr1:236757543	ACTN2	V530M, V488M, V738M	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212615349.	NM_001103.4(ACTN2):c.547G>T (p.Gly183Cys) GRCh37: Chr1:236890988 GRCh38: Chr1:236727688	ACTN2	G183C	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212533350.	NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln) GRCh37: Chr1:236850040 GRCh38: Chr1:236686740	ACTN2	E23Q	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212232251.	NM_001103.4(ACTN2):c.2676C>G (p.Ser892Arg) GRCh37: Chr1:236925910 GRCh38: Chr1:236762610	ACTN2	S892R, S642R, S684R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212230152.	NM_001103.4(ACTN2):c.1656+16del GRCh37: Chr1:236912580 GRCh38: Chr1:236749280	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212176853.	NM_001103.4(ACTN2):c.2160T>A (p.Ile720=) GRCh37: Chr1:236920791 GRCh38: Chr1:236757491	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 212015854.	NM_001103.4(ACTN2):c.458C>T (p.Ala153Val) GRCh37: Chr1:236889242 GRCh38: Chr1:236725942	ACTN2	A153V	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 212007555.	NM_001103.4(ACTN2):c.615+4_615+6del GRCh37: Chr1:236891058-236891060 GRCh38: Chr1:236727758-236727760	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211872056.	NM_001103.4(ACTN2):c.1349A>G (p.Asp450Gly) GRCh37: Chr1:236908019 GRCh38: Chr1:236744719	ACTN2	D242G, D200G, D450G	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211679957.	NM_001103.4(ACTN2):c.1961A>G (p.Gln654Arg) GRCh37: Chr1:236917368 GRCh38: Chr1:236754068	ACTN2	Q404R, Q446R, Q654R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211670958.	NM_001103.4(ACTN2):c.1919G>T (p.Arg640Leu) GRCh37: Chr1:236917326 GRCh38: Chr1:236754026	ACTN2	R390L, R432L, R640L	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211582959.	NM_001103.4(ACTN2):c.619G>T (p.Asp207Tyr) GRCh37: Chr1:236894536 GRCh38: Chr1:236731236	ACTN2	D207Y	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 211463360.	NM_001103.4(ACTN2):c.698-8C>T GRCh37: Chr1:236898927 GRCh38: Chr1:236735627	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211400061.	NM_001103.4(ACTN2):c.383A>G (p.Lys128Arg) GRCh37: Chr1:236883426 GRCh38: Chr1:236720126	ACTN2	K128R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211250362.	NM_001103.4(ACTN2):c.2155-8C>T GRCh37: Chr1:236920778 GRCh38: Chr1:236757478	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 211204263.	NM_001103.4(ACTN2):c.2513T>G (p.Leu838Arg) GRCh37: Chr1:236924460 GRCh38: Chr1:236761160	ACTN2	L838R, L630R, L588R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211172564.	NM_001103.4(ACTN2):c.1923G>T (p.Gln641His) GRCh37: Chr1:236917330 GRCh38: Chr1:236754030	ACTN2	Q433H, Q641H, Q391H	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211041965.	NM_001103.4(ACTN2):c.1808C>T (p.Thr603Ile) GRCh37: Chr1:236914921 GRCh38: Chr1:236751621	ACTN2	T353I, T603I, T395I	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 210572466.	NM_001103.4(ACTN2):c.1592G>A (p.Trp531Ter) GRCh37: Chr1:236912500 GRCh38: Chr1:236749200	ACTN2	W281, W323, W531*	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210461667.	NM_001103.4(ACTN2):c.876+17A>G GRCh37: Chr1:236900531 GRCh38: Chr1:236737231	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210167668.	NM_001103.4(ACTN2):c.1107+18A>C GRCh37: Chr1:236902850 GRCh38: Chr1:236739550	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210008169.	NM_001103.4(ACTN2):c.1951C>A (p.Pro651Thr) GRCh37: Chr1:236917358 GRCh38: Chr1:236754058	ACTN2	P651T, P401T, P443T	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209756170.	NM_001103.4(ACTN2):c.1873C>T (p.Leu625=) GRCh37: Chr1:236917280 GRCh38: Chr1:236753980	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 209708171.	NM_001103.4(ACTN2):c.1859T>A (p.Ile620Asn) GRCh37: Chr1:236917266 GRCh38: Chr1:236753966	ACTN2	I412N, I370N, I620N	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 209335672.	NM_001103.4(ACTN2):c.877-3C>A GRCh37: Chr1:236902599 GRCh38: Chr1:236739299	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 208727773.	NM_001103.4(ACTN2):c.783+4C>T GRCh37: Chr1:236899024 GRCh38: Chr1:236735724	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 208679774.	NM_001103.4(ACTN2):c.1347C>A (p.Ser449Arg) GRCh37: Chr1:236908017 GRCh38: Chr1:236744717	ACTN2	S241R, S199R, S449R	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208350975.	NM_001103.4(ACTN2):c.1149G>A (p.Lys383=) GRCh37: Chr1:236906237 GRCh38: Chr1:236742937	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207712476.	NM_001103.4(ACTN2):c.1002G>C (p.Lys334Asn) GRCh37: Chr1:236902727 GRCh38: Chr1:236739427	ACTN2	K84N, K126N, K334N	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 207538277.	NM_001103.4(ACTN2):c.2154+19C>T GRCh37: Chr1:236918517 GRCh38: Chr1:236755217	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 207531678.	NM_001103.4(ACTN2):c.1667C>T (p.Thr556Ile) GRCh37: Chr1:236914780 GRCh38: Chr1:236751480	ACTN2	T556I, T306I, T348I	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 206973179.	NM_001103.4(ACTN2):c.1069C>T (p.Arg357Cys) GRCh37: Chr1:236902794 GRCh38: Chr1:236739494	ACTN2	R149C, R107C, R357C	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 206399480.	NM_001103.4(ACTN2):c.863G>A (p.Arg288Lys) GRCh37: Chr1:236900501 GRCh38: Chr1:236737201	ACTN2	R288K, R80K, R38K	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 206219181.	NM_001103.4(ACTN2):c.2527-6del GRCh37: Chr1:236925750 GRCh38: Chr1:236762450	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Benign (Jan 21, 2022)	criteria provided, single submitter
Select item 206030982.	NM_001103.4(ACTN2):c.2344C>T (p.Leu782=) GRCh37: Chr1:236923066 GRCh38: Chr1:236759766	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 205791783.	NM_001103.4(ACTN2):c.1294G>C (p.Ala432Pro) GRCh37: Chr1:236907964 GRCh38: Chr1:236744664	ACTN2	A182P, A224P, A432P	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205625884.	NM_001103.4(ACTN2):c.2430C>A (p.Thr810=) GRCh37: Chr1:236924377 GRCh38: Chr1:236761077	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 205567985.	NM_001103.4(ACTN2):c.1738A>G (p.Asn580Asp) GRCh37: Chr1:236914851 GRCh38: Chr1:236751551	ACTN2	N330D, N372D, N580D	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 205280686.	NM_001103.4(ACTN2):c.608T>A (p.Leu203His) GRCh37: Chr1:236891049 GRCh38: Chr1:236727749	ACTN2	L203H	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 205270887.	NM_001103.4(ACTN2):c.1587C>T (p.Asn529=) GRCh37: Chr1:236912495 GRCh38: Chr1:236749195	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 205170888.	NM_001103.4(ACTN2):c.1631T>C (p.Ile544Thr) GRCh37: Chr1:236912539 GRCh38: Chr1:236749239	ACTN2	I544T, I336T, I294T	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 205005089.	NM_001103.4(ACTN2):c.127-11T>G GRCh37: Chr1:236881147 GRCh38: Chr1:236717847	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 204771090.	NM_001103.4(ACTN2):c.1102G>C (p.Val368Leu) GRCh37: Chr1:236902827 GRCh38: Chr1:236739527	ACTN2	V118L, V160L, V368L	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 204697991.	NM_001103.4(ACTN2):c.1547A>T (p.Gln516Leu) GRCh37: Chr1:236912455 GRCh38: Chr1:236749155	ACTN2	Q308L, Q266L, Q516L	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 204642492.	NM_001103.4(ACTN2):c.156A>T (p.Leu52=) GRCh37: Chr1:236881187 GRCh38: Chr1:236717887	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 204629893.	NM_001103.4(ACTN2):c.2614C>T (p.Pro872Ser) GRCh37: Chr1:236925848 GRCh38: Chr1:236762548	ACTN2	P872S, P622S, P664S	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 203905394.	NM_001103.4(ACTN2):c.241+12A>T GRCh37: Chr1:236881284 GRCh38: Chr1:236717984	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Benign (Aug 1, 2022)	criteria provided, single submitter
Select item 203613795.	NM_001103.4(ACTN2):c.1704G>T (p.Ala568=) GRCh37: Chr1:236914817 GRCh38: Chr1:236751517	ACTN2		Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 203233896.	NM_001103.4(ACTN2):c.2264T>C (p.Met755Thr) GRCh37: Chr1:236920895 GRCh38: Chr1:236757595	ACTN2	M755T, M505T, M547T	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 202488097.	NM_001103.4(ACTN2):c.1499G>A (p.Arg500Lys) GRCh37: Chr1:236911059 GRCh38: Chr1:236747759	ACTN2	R250K, R500K, R292K	Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 202443898.	NM_001103.4(ACTN2):c.1788C>T (p.Ser596=) GRCh37: Chr1:236914901 GRCh38: Chr1:236751601	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 202141599.	NM_001103.4(ACTN2):c.2178G>T (p.Leu726=) GRCh37: Chr1:236920809 GRCh38: Chr1:236757509	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 2021408100.	NM_001103.4(ACTN2):c.1176G>A (p.Glu392=) GRCh37: Chr1:236906264 GRCh38: Chr1:236742964	ACTN2		Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 4, 2022)	criteria provided, single submitter

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