ClinVar for MedGen (Select 183649) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24282061.	NM_004517.4(ILK):c.410T>C (p.Val137Ala) GRCh37: Chr11:6629982 GRCh38: Chr11:6608752	ILK, TAF10	V137A, V3A	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 24247202.	NC_000017.10:g.(?_37821613)_(38458253_?)dup GRCh37: Chr17:37821613-38458253	CASC3, GSDMB, WIPF2, PNMT, CDC6, TCAP, PSMD3, THRA, LRRC3C, MSL1, ERBB2, RAPGEFL1, NR1D1, GSDMA, IKZF3, CSF3, ORMDL3, MED24, GRB7, MIEN1, ZPBP2, PGAP3		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 24237203.	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 24237194.	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 24237185.	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 24237176.	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 24237167.	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 24134448.	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 22035679.	NM_006284.4(TAF10):c.*1425G>A GRCh37: Chr11:6630728 GRCh38: Chr11:6609497	TAF10, ILK		Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220300410.	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 220266711.	NM_003673.4(TCAP):c.50G>A (p.Arg17His) GRCh37: Chr17:37821662 GRCh38: Chr17:39665409	TCAP	R17H	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 220093612.	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 219964613.	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 219963514.	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 219908115.	NM_003673.4(TCAP):c.105G>A (p.Glu35=) GRCh37: Chr17:37821717 GRCh38: Chr17:39665464	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 219721916.	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 219629717.	NM_003673.4(TCAP):c.134C>T (p.Thr45Ile) GRCh37: Chr17:37821992 GRCh38: Chr17:39665739	TCAP	T45I	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 219511718.	NM_006284.4(TAF10):c.2052_2055del GRCh37: Chr11:6630098-6630101 GRCh38: Chr11:6608867-6608870	ILK, TAF10		Primary familial hypertrophic cardiomyopathy	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 219396019.	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 219032520.	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 219022621.	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 219012822.	NM_004517.4(ILK):c.1229G>A (p.Arg410Gln) GRCh37: Chr11:6631712 GRCh38: Chr11:6610481	ILK, TAF10	R276Q, R349Q, R410Q	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 218921823.	NM_004517.4(ILK):c.961A>G (p.Asn321Asp) GRCh37: Chr11:6631059 GRCh38: Chr11:6609828	ILK, TAF10	N260D, N187D, N321D	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 218771524.	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 218702225.	NM_003673.4(TCAP):c.111-15C>T GRCh37: Chr17:37821954 GRCh38: Chr17:39665701	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 218684126.	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 218574927.	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 218557428.	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 218536029.	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 218177030.	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 218048731.	NM_004517.4(ILK):c.972T>C (p.Ser324=) GRCh37: Chr11:6631070 GRCh38: Chr11:6609839	ILK, TAF10		Primary familial hypertrophic cardiomyopathy	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 217865032.	NM_006284.4(TAF10):c.*1430G>C GRCh37: Chr11:6630723 GRCh38: Chr11:6609492	ILK, TAF10		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 217839033.	NM_003673.4(TCAP):c.178C>G (p.Leu60Val) GRCh37: Chr17:37822036 GRCh38: Chr17:39665783	TCAP	L60V	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 217780634.	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 217758735.	NM_003673.4(TCAP):c.464C>G (p.Ser155Cys) GRCh37: Chr17:37822322 GRCh38: Chr17:39666069	TCAP	S155C	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 217603836.	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 217594937.	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 217232638.	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 216737639.	NM_006284.4(TAF10):c.*1761G>C GRCh37: Chr11:6630392 GRCh38: Chr11:6609161	ILK, TAF10		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 216708340.	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 216668441.	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 216534542.	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 216522643.	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 216327144.	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 216294045.	NM_004517.4(ILK):c.649A>T (p.Ile217Phe) GRCh37: Chr11:6630560 GRCh38: Chr11:6609329	ILK, TAF10	I156F, I217F, I83F	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 215852346.	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 215766547.	NM_003673.4(TCAP):c.325A>G (p.Thr109Ala) GRCh37: Chr17:37822183 GRCh38: Chr17:39665930	TCAP	T109A	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215621648.	NM_003673.4(TCAP):c.111-14T>A GRCh37: Chr17:37821955 GRCh38: Chr17:39665702	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 215472449.	NM_004517.4(ILK):c.518C>T (p.Thr173Ile) GRCh37: Chr11:6630184 GRCh38: Chr11:6608953	TAF10, ILK	P141S, T173I, T39I	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 215409950.	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 215358051.	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 215310252.	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 215291353.	NM_004517.4(ILK):c.865G>A (p.Val289Met) GRCh37: Chr11:6630963 GRCh38: Chr11:6609732	TAF10, ILK	V289M, V155M, V228M	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215269954.	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 215178155.	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 215141556.	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 215059257.	NM_004517.4(ILK):c.377T>C (p.Val126Ala) GRCh37: Chr11:6629949 GRCh38: Chr11:6608719	TAF10, ILK	V126A	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215052158.	NM_004517.4(ILK):c.794C>T (p.Pro265Leu) GRCh37: Chr11:6630808 GRCh38: Chr11:6609577	TAF10, ILK	P265L, P131L, P204L	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214997759.	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 214958360.	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 214909961.	NM_004517.4(ILK):c.354C>T (p.Asp118=) GRCh37: Chr11:6629926 GRCh38: Chr11:6608696	ILK, TAF10		Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214791562.	NM_004517.4(ILK):c.238C>T (p.Arg80Cys) GRCh37: Chr11:6629424 GRCh38: Chr11:6608194	ILK, TAF10	R80C	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 214630963.	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 214600464.	NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu) GRCh37: Chr17:37821644-37821645 GRCh38: Chr17:39665391-39665392	TCAP		Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 214450765.	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 214447266.	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 214175267.	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 214130868.	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 214127069.	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 213533270.	NM_003673.4(TCAP):c.448G>C (p.Gly150Arg) GRCh37: Chr17:37822306 GRCh38: Chr17:39666053	TCAP	G150R	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213400871.	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 213398372.	NM_004517.4(ILK):c.581A>C (p.Asn194Thr) GRCh37: Chr11:6630350 GRCh38: Chr11:6609119	ILK, TAF10	N60T, N194T	Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213252973.	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 212832674.	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 212618575.	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 212615376.	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 212533377.	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 212450278.	NM_004517.4(ILK):c.700G>A (p.Asp234Asn) GRCh37: Chr11:6630611 GRCh38: Chr11:6609380	ILK, TAF10	D100N, D173N, D234N	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212428079.	NM_006284.4(TAF10):c.*1942A>G GRCh37: Chr11:6630211 GRCh38: Chr11:6608980	TAF10, ILK		Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212378880.	NM_006284.4(TAF10):c.*478A>G GRCh37: Chr11:6631675 GRCh38: Chr11:6610444	TAF10, ILK		Primary familial hypertrophic cardiomyopathy	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 212232281.	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 212230182.	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 212176883.	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 212015884.	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 212007585.	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 211872086.	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 211679987.	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 211670988.	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 211582989.	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 211463390.	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 211400091.	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 211328292.	NM_003673.4(TCAP):c.428T>G (p.Val143Gly) GRCh37: Chr17:37822286 GRCh38: Chr17:39666033	TCAP	V143G	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 211250393.	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 211204294.	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 211172595.	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 211041996.	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 210869197.	NM_004517.4(ILK):c.619C>G (p.Leu207Val) GRCh37: Chr11:6630530 GRCh38: Chr11:6609299	ILK, TAF10	L146V, L207V, L73V	Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210572498.	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 210461699.	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 2101676100.	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

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