ClinVar for MedGen (Select 2880) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418281.	NM_198060.4(NRAP):c.3703-1G>T GRCh37: Chr10:115366042 GRCh38: Chr10:113606283	NRAP		Primary dilated cardiomyopathy	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 24315112.	NM_001318895.3(FHL2):c.752G>C (p.Cys251Ser) GRCh37: Chr2:105977828 GRCh38: Chr2:105361371	C2orf49, FHL2	C137S, C143S, C251S	Primary dilated cardiomyopathy	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 24259533.	NC_000004.11:g.(?_186444496)_(186456588_?)dup GRCh37: Chr4:186444496-186456588	PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 24255944.	NC_000022.10:g.(?_19864628)_(19883124_?)del GRCh37: Chr22:19864628-19883124	TXNRD2		Primary dilated cardiomyopathy	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 24214105.	NM_006393.3(NEBL):c.1671+5G>C GRCh37: Chr10:21120120 GRCh38: Chr10:20831191	NEBL		Primary dilated cardiomyopathy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 24170656.	NM_006393.3(NEBL):c.799-12T>C GRCh37: Chr10:21147285 GRCh38: Chr10:20858356	NEBL		Primary dilated cardiomyopathy	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 22035977.	NM_014476.6(PDLIM3):c.805del (p.Ala269fs) GRCh37: Chr4:186425729 GRCh38: Chr4:185504575	PDLIM3	A181fs, A102fs, A269fs, A221fs	Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 22031628.	NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile) GRCh37: Chr10:21102962 GRCh38: Chr10:20814033	NEBL	T751I	Primary dilated cardiomyopathy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 22024659.	NM_006393.3(NEBL):c.1228-4A>G GRCh37: Chr10:21129782 GRCh38: Chr10:20840853	NEBL		Primary dilated cardiomyopathy	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 220169110.	NM_014476.6(PDLIM3):c.398+12T>A GRCh37: Chr4:186435412 GRCh38: Chr4:185514258	LOC126807246, PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 220157611.	NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn) GRCh37: Chr10:21074831 GRCh38: Chr10:20785902	NEBL	D201N, D184N, D204N, D220N, D964N, R219Q, D198N, D251N	Primary dilated cardiomyopathy	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 220121112.	NM_006393.3(NEBL):c.1869+11T>C GRCh37: Chr10:21115365 GRCh38: Chr10:20826436	NEBL		Primary dilated cardiomyopathy	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 219971613.	NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp) GRCh37: Chr4:186425683 GRCh38: Chr4:185504529	PDLIM3	G196D, G236D, G117D, G284D	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 219951314.	NM_006393.3(NEBL):c.2148+19del GRCh37: Chr10:21106510 GRCh38: Chr10:20817581	LOC126860875, NEBL		Primary dilated cardiomyopathy	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219883615.	NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del) GRCh37: Chr10:21076158-21076166 GRCh38: Chr10:20787229-20787237	NEBL		Primary dilated cardiomyopathy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219808716.	NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser) GRCh37: Chr2:105990129 GRCh38: Chr2:105373672	C2orf49, FHL2	N73S	Primary dilated cardiomyopathy	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 219807717.	NM_006440.5(TXNRD2):c.1107C>T (p.Pro369=) GRCh37: Chr22:19868220 GRCh38: Chr22:19880697	TXNRD2		Primary dilated cardiomyopathy, Cardiovascular phenotype	Likely benign (Feb 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219775618.	NM_001318895.3(FHL2):c.501+16C>T GRCh37: Chr2:105984011 GRCh38: Chr2:105367554	FHL2, C2orf49		Primary dilated cardiomyopathy	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 219756619.	NM_006440.5(TXNRD2):c.165C>T (p.Ala55=) GRCh37: Chr22:19918560 GRCh38: Chr22:19931037	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 219742920.	NM_014476.6(PDLIM3):c.899G>A (p.Gly300Asp) GRCh37: Chr4:186425635 GRCh38: Chr4:185504481	PDLIM3	G212D, G300D, G133D, G252D	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 219687321.	NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn) GRCh37: Chr10:21108357 GRCh38: Chr10:20819428	NEBL	S684N	Primary dilated cardiomyopathy	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219618522.	NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu) GRCh37: Chr4:186444577 GRCh38: Chr4:185523423	PDLIM3	P90L	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 219618123.	NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys) GRCh37: Chr10:21120505 GRCh38: Chr10:20831576	NEBL	Y486C	Primary dilated cardiomyopathy	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 219597824.	NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro) GRCh37: Chr22:19885644 GRCh38: Chr22:19898121	TXNRD2	L231P, L199P, L201P, L135P, L230P	Primary dilated cardiomyopathy	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 219595025.	NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr) GRCh37: Chr10:21124462 GRCh38: Chr10:20835533	NEBL	A477T	Primary dilated cardiomyopathy	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219562026.	NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys) GRCh37: Chr10:21178871 GRCh38: Chr10:20889942	NEBL	Y54C	Primary dilated cardiomyopathy	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219524327.	NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu) GRCh37: Chr2:105990139 GRCh38: Chr2:105373682	C2orf49, FHL2	Q70E	Primary dilated cardiomyopathy	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 219430028.	NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr) GRCh37: Chr10:21097474 GRCh38: Chr10:20808545	NEBL	C909Y	Primary dilated cardiomyopathy	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 219215929.	NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter) GRCh37: Chr10:21124477 GRCh38: Chr10:20835548	NEBL	Q472*	Primary dilated cardiomyopathy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 219125030.	NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter) GRCh37: Chr22:19864703-19864704 GRCh38: Chr22:19877180-19877181	TXNRD2	C499, C404, C470, C500	Primary dilated cardiomyopathy	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219038731.	NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu) GRCh37: Chr4:186425659 GRCh38: Chr4:185504505	PDLIM3	P292L, P125L, P204L, P244L	Inborn genetic diseases, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218939232.	NM_006440.5(TXNRD2):c.1086+16C>T GRCh37: Chr22:19870832 GRCh38: Chr22:19883309	TXNRD2		Primary dilated cardiomyopathy	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 218718933.	NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu) GRCh37: Chr10:21112151 GRCh38: Chr10:20823222	NEBL	K650E	Primary dilated cardiomyopathy	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218692634.	NM_014476.6(PDLIM3):c.398+12T>C GRCh37: Chr4:186435412 GRCh38: Chr4:185514258	LOC126807246, PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 218690935.	NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn) GRCh37: Chr10:21074756 GRCh38: Chr10:20785827	NEBL	D223N, D276N, D226N, D229N, D209N, D245N, D989N	Primary dilated cardiomyopathy	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218352336.	NM_014476.6(PDLIM3):c.1063T>C (p.Tyr355His) GRCh37: Chr4:186423480 GRCh38: Chr4:185502326	PDLIM3	Y188H, Y307H, Y267H, Y355H	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 218324937.	NM_006440.5(TXNRD2):c.702T>C (p.Ala234=) GRCh37: Chr22:19885634 GRCh38: Chr22:19898111	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 218282638.	NM_014476.6(PDLIM3):c.500C>T (p.Ala167Val) GRCh37: Chr4:186429615 GRCh38: Chr4:185508461	PDLIM3	A167V	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 218274539.	NM_006393.3(NEBL):c.242del (p.Gly81fs) GRCh37: Chr10:21178790 GRCh38: Chr10:20889861	NEBL	G81fs	Primary dilated cardiomyopathy	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 218116040.	NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs) GRCh37: Chr22:19929250-19929251 GRCh38: Chr22:19941727-19941728	TXNRD2	V26fs	Primary dilated cardiomyopathy	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 217948741.	NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile) GRCh37: Chr2:105990078 GRCh38: Chr2:105373621	C2orf49, FHL2	T90I	Primary dilated cardiomyopathy	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 217718342.	NM_014476.6(PDLIM3):c.563C>A (p.Ala188Asp) GRCh37: Chr4:186429552 GRCh38: Chr4:185508398	PDLIM3	A188D	Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 217588643.	NM_006393.3(NEBL):c.2347G>A (p.Val783Ile) GRCh37: Chr10:21101869 GRCh38: Chr10:20812940	NEBL	V101I, V104I, V98I, V120I, V783I, V84I	Primary dilated cardiomyopathy	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 217554444.	NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln) GRCh37: Chr22:19883031 GRCh38: Chr22:19895508	TXNRD2	R282Q, R283Q, R251Q, R187Q, R253Q	Primary dilated cardiomyopathy	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 217426045.	NM_006440.5(TXNRD2):c.1183-4T>C GRCh37: Chr22:19867798 GRCh38: Chr22:19880275	TXNRD2		Primary dilated cardiomyopathy	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 217404946.	NM_014476.6(PDLIM3):c.662G>T (p.Ser221Ile) GRCh37: Chr4:186429453 GRCh38: Chr4:185508299	PDLIM3	S221I	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216874947.	NM_006393.3(NEBL):c.1339-3C>G GRCh37: Chr10:21124555 GRCh38: Chr10:20835626	NEBL		Primary dilated cardiomyopathy	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 216798448.	NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr) GRCh37: Chr22:19870864 GRCh38: Chr22:19883341	TXNRD2	I357T, I261T, I356T, I327T	Primary dilated cardiomyopathy	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 216770749.	NM_006393.3(NEBL):c.408C>T (p.Phe136=) GRCh37: Chr10:21169795 GRCh38: Chr10:20880866	NEBL		Primary dilated cardiomyopathy	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216750950.	NM_006393.3(NEBL):c.2241+18T>C GRCh37: Chr10:21104536 GRCh38: Chr10:20815607	NEBL		Primary dilated cardiomyopathy	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 216636451.	NM_006393.3(NEBL):c.1560+9G>A GRCh37: Chr10:21120393 GRCh38: Chr10:20831464	NEBL		Primary dilated cardiomyopathy	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216632652.	NM_006440.5(TXNRD2):c.774+16C>T GRCh37: Chr22:19885546 GRCh38: Chr22:19898023	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 216625453.	NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu) GRCh37: Chr22:19885614 GRCh38: Chr22:19898091	TXNRD2	G211E, G240E, G241E, G145E, G209E	Primary dilated cardiomyopathy	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 216598054.	NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr) GRCh37: Chr10:21120175 GRCh38: Chr10:20831246	NEBL	D541Y	Primary dilated cardiomyopathy	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 216572455.	NM_006393.3(NEBL):c.1963-7C>G GRCh37: Chr10:21108452 GRCh38: Chr10:20819523	NEBL		Primary dilated cardiomyopathy	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216515956.	NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met) GRCh37: Chr22:19865926 GRCh38: Chr22:19878403	TXNRD2	T407M, T436M, T437M, T341M	Primary dilated cardiomyopathy	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 216512457.	NM_006393.3(NEBL):c.1870-19A>G GRCh37: Chr10:21112248 GRCh38: Chr10:20823319	NEBL		Primary dilated cardiomyopathy	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 216464658.	NM_006393.3(NEBL):c.28A>G (p.Lys10Glu) GRCh37: Chr10:21186107 GRCh38: Chr10:20897178	NEBL	K10E	Primary dilated cardiomyopathy	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 216421159.	NM_001318895.3(FHL2):c.191C>T (p.Ala64Val) GRCh37: Chr2:105990156 GRCh38: Chr2:105373699	C2orf49, FHL2	A64V	Primary dilated cardiomyopathy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216290560.	NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu) GRCh37: Chr10:21124513 GRCh38: Chr10:20835584	NEBL	K460E	Primary dilated cardiomyopathy	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 216244861.	NM_014476.6(PDLIM3):c.703C>T (p.Arg235Trp) GRCh37: Chr4:186427766 GRCh38: Chr4:185506612	PDLIM3	R147W, R187W, R235W, R68W	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 216208362.	NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly) GRCh37: Chr10:21120484 GRCh38: Chr10:20831555	NEBL	E493G	Primary dilated cardiomyopathy	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 216188163.	NM_006440.5(TXNRD2):c.449+2T>G GRCh37: Chr22:19905664 GRCh38: Chr22:19918141	TXNRD2		Primary dilated cardiomyopathy	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 216123664.	NM_006393.3(NEBL):c.1671+18A>G GRCh37: Chr10:21120107 GRCh38: Chr10:20831178	NEBL		Primary dilated cardiomyopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 215908865.	NM_014476.6(PDLIM3):c.906-4A>G GRCh37: Chr4:186423641 GRCh38: Chr4:185502487	PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 215842466.	NM_006393.3(NEBL):c.198A>C (p.Thr66=) GRCh37: Chr10:21178834 GRCh38: Chr10:20889905	NEBL		Primary dilated cardiomyopathy	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 215842067.	NM_006440.5(TXNRD2):c.564T>C (p.Thr188=) GRCh37: Chr22:19902764 GRCh38: Chr22:19915241	TXNRD2		Primary dilated cardiomyopathy	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 215821868.	NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser) GRCh37: Chr10:21102901 GRCh38: Chr10:20813972	NEBL	R771S	Primary dilated cardiomyopathy	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 215808669.	NM_006393.3(NEBL):c.479A>G (p.Asn160Ser) GRCh37: Chr10:21169724 GRCh38: Chr10:20880795	NEBL	N160S	Primary dilated cardiomyopathy	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215765870.	NM_006393.3(NEBL):c.1777-19T>C GRCh37: Chr10:21115487 GRCh38: Chr10:20826558	NEBL		Primary dilated cardiomyopathy	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215752371.	NM_006393.3(NEBL):c.275C>G (p.Thr92Ser) GRCh37: Chr10:21177120 GRCh38: Chr10:20888191	NEBL	T92S	Primary dilated cardiomyopathy	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 215446972.	NM_001318895.3(FHL2):c.502-10G>A GRCh37: Chr2:105979938 GRCh38: Chr2:105363481	C2orf49, FHL2		Primary dilated cardiomyopathy	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 215391273.	NM_014476.6(PDLIM3):c.195G>T (p.Ala65=) GRCh37: Chr4:186446224 GRCh38: Chr4:185525070	PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 215298574.	NM_006393.3(NEBL):c.1009G>T (p.Val337Leu) GRCh37: Chr10:21139431 GRCh38: Chr10:20850502	NEBL	V337L	Primary dilated cardiomyopathy	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 215275975.	NM_014476.6(PDLIM3):c.975C>T (p.Leu325=) GRCh37: Chr4:186423568 GRCh38: Chr4:185502414	PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 215266176.	NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu) GRCh37: Chr2:105977881-105977882 GRCh38: Chr2:105361424-105361425	C2orf49, FHL2	G233E, G125E, G119E	Primary dilated cardiomyopathy	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 215263377.	NM_006440.5(TXNRD2):c.229+13C>G GRCh37: Chr22:19907053 GRCh38: Chr22:19919530	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 215147878.	NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter) GRCh37: Chr2:105984066 GRCh38: Chr2:105367609	FHL2, C2orf49	Y46, Y154, Y40*	Primary dilated cardiomyopathy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 215141179.	NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro) GRCh37: Chr22:19929224 GRCh38: Chr22:19941701	TXNRD2	A35P, G35R	Primary dilated cardiomyopathy	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 215107380.	NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly) GRCh37: Chr10:21101788 GRCh38: Chr10:20812859	NEBL	R128G, R810G, R125G, R111G, R131G, R147G	Primary dilated cardiomyopathy	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215094281.	NM_006393.3(NEBL):c.2191G>A (p.Val731Ile) GRCh37: Chr10:21104604 GRCh38: Chr10:20815675	NEBL	V731I	Primary dilated cardiomyopathy	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 215064882.	NM_006393.3(NEBL):c.2611+20T>C GRCh37: Chr10:21098715 GRCh38: Chr10:20809786	NEBL		Primary dilated cardiomyopathy	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 214980483.	NM_006393.3(NEBL):c.2518+13C>T GRCh37: Chr10:21101685 GRCh38: Chr10:20812756	NEBL		Primary dilated cardiomyopathy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214931984.	NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp) GRCh37: Chr2:105979901 GRCh38: Chr2:105363444	FHL2, C2orf49	R177W, R63W, R69W	Primary dilated cardiomyopathy	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214911985.	NM_006393.3(NEBL):c.481-14C>G GRCh37: Chr10:21158784 GRCh38: Chr10:20869855	NEBL		Primary dilated cardiomyopathy	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 214910586.	NM_006440.5(TXNRD2):c.870C>T (p.Gly290=) GRCh37: Chr22:19883009 GRCh38: Chr22:19895486	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 214758387.	NM_001318895.3(FHL2):c.612T>C (p.Asp204=) GRCh37: Chr2:105979818 GRCh38: Chr2:105363361	C2orf49, FHL2		Primary dilated cardiomyopathy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 214704188.	NM_006393.3(NEBL):c.65A>G (p.Glu22Gly) GRCh37: Chr10:21186070 GRCh38: Chr10:20897141	NEBL	E22G	Primary dilated cardiomyopathy	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 214620089.	NM_006393.3(NEBL):c.2519-2A>G GRCh37: Chr10:21098829 GRCh38: Chr10:20809900	NEBL		Primary dilated cardiomyopathy	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214610490.	NM_014476.6(PDLIM3):c.331-15G>A GRCh37: Chr4:186435506 GRCh38: Chr4:185514352	LOC126807246, PDLIM3		Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 214433391.	NM_006440.5(TXNRD2):c.529-3_529-2del GRCh37: Chr22:19902801-19902802 GRCh38: Chr22:19915278-19915279	TXNRD2		Primary dilated cardiomyopathy	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 214302392.	NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala) GRCh37: Chr22:19865638 GRCh38: Chr22:19878115	TXNRD2	T378A, T444A, T473A, T474A	Cardiovascular phenotype, Primary dilated cardiomyopathy	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214291693.	NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys) GRCh37: Chr2:106002918 GRCh38: Chr2:105386461	FHL2	Y19C	Primary dilated cardiomyopathy	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 214243394.	NM_006393.3(NEBL):c.582+14C>T GRCh37: Chr10:21158655 GRCh38: Chr10:20869726	NEBL		Primary dilated cardiomyopathy	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 214220495.	NM_006393.3(NEBL):c.481-18A>T GRCh37: Chr10:21158788 GRCh38: Chr10:20869859	NEBL		Primary dilated cardiomyopathy	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 214130596.	NM_006440.5(TXNRD2):c.1284C>T (p.His428=) GRCh37: Chr22:19865952 GRCh38: Chr22:19878429	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 214026597.	NM_006440.5(TXNRD2):c.1446-15A>G GRCh37: Chr22:19864772 GRCh38: Chr22:19877249	TXNRD2		Primary dilated cardiomyopathy	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 213986498.	NM_014476.6(PDLIM3):c.663-19C>T GRCh37: Chr4:186427825 GRCh38: Chr4:185506671	PDLIM3		Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 213900699.	NM_006393.3(NEBL):c.1833C>T (p.Ile611=) GRCh37: Chr10:21115412 GRCh38: Chr10:20826483	NEBL		Primary dilated cardiomyopathy	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 2138928100.	NM_006440.5(TXNRD2):c.211G>A (p.Val71Met) GRCh37: Chr22:19907084 GRCh38: Chr22:19919561	TXNRD2	V71M, V39M, V70M, V41M	Primary dilated cardiomyopathy	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter

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