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 25053341.	NM_020433.5(JPH2):c.598T>G (p.Phe200Val) GRCh37: Chr20:42788829 GRCh38: Chr20:44160189	JPH2	F200V	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053332.	NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr) GRCh37: Chr11:47370005 GRCh38: Chr11:47348454	MYBPC3	D248Y	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053323.	NM_001079843.3(CASZ1):c.559G>A (p.Gly187Ser) GRCh37: Chr1:10720540 GRCh38: Chr1:10660483	CASZ1	G187S	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053314.	NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn) GRCh37: Chr2:179641264 GRCh38: Chr2:178776537	TTN	T1730N, T1776N	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053305.	NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser) GRCh37: Chr14:23869994 GRCh38: Chr14:23400785	MYH6	N445S	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053296.	NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr) GRCh37: Chr14:23857492 GRCh38: Chr14:23388283	MYH6	A1411T	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053287.	NM_024422.6(DSC2):c.448G>A (p.Gly150Ser) GRCh37: Chr18:28671017 GRCh38: Chr18:31091054	DSC2	G150S, G7S	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053278.	NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile) GRCh37: Chr3:38647480 GRCh38: Chr3:38605989	SCN5A	F434I	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 25053269.	NM_001386795.1(DTNA):c.1265del (p.Ser422fs) GRCh37: Chr18:32418720 GRCh38: Chr18:34838756	DTNA	S104fs, S392fs, S395fs, S422fs	Primary dilated cardiomyopathy	Likely pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 250532510.	NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys) GRCh37: Chr19:49671243 GRCh38: Chr19:49167986	TRPM4	R113C	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250532411.	NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe) GRCh37: Chr17:48262919 GRCh38: Chr17:50185558	COL1A1	V1447F	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250532312.	NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala) GRCh37: Chr18:25565705 GRCh38: Chr18:27985741	CDH2	T557A, T588A	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250532213.	NM_001146156.2(GSK3B):c.910-2987C>T GRCh37: Chr3:119585439 GRCh38: Chr3:119866592	GSK3B	R316W	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250532114.	NM_152879.3(DGKD):c.541C>T (p.Arg181Cys) GRCh37: Chr2:234343502 GRCh38: Chr2:233434856	DGKD	R137C, R181C, R48C	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250532015.	NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser) GRCh37: Chr2:179643673 GRCh38: Chr2:178778946	LOC101927055, TTN	L1333S, L1379S	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250531916.	NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg) GRCh37: Chr1:74808579 GRCh38: Chr1:74342895	FPGT-TNNI3K, TNNI3K	G246R, G347R	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250531817.	NM_004281.4(BAG3):c.653G>T (p.Arg218Leu) GRCh37: Chr10:121431912 GRCh38: Chr10:119672400	BAG3	R218L	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250531618.	NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn) GRCh37: Chr2:179485032 GRCh38: Chr2:178620305	TTN	D12838N, D13765N, D15406N, D6341N, D6466N, D6533N	Primary dilated cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, single submitter
Select item 250531519.	NM_005257.6(GATA6):c.701del (p.Pro234fs) GRCh37: Chr18:19751805 GRCh38: Chr18:22171844	GATA6	P234fs	Primary dilated cardiomyopathy	Likely pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 250531320.	NM_000138.5(FBN1):c.657C>G (p.His219Gln) GRCh37: Chr15:48829887 GRCh38: Chr15:48537690	FBN1	H219Q	Primary dilated cardiomyopathy	Likely pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 250515921.	NM_001267550.2(TTN):c.95416+4_95416+7del GRCh37: Chr2:179410540-179410543 GRCh38: Chr2:178545813-178545816	TTN, TTN-AS1		Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515822.	NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter) GRCh37: Chr2:179407147 GRCh38: Chr2:178542420	TTN, TTN-AS1	G23381, G23506, G23573, G29878, G30805, G32446	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515723.	NM_001267550.2(TTN):c.100555_100571del (p.Val33519fs) GRCh37: Chr2:179400903-179400919 GRCh38: Chr2:178536176-178536192	TTN, TTN-AS1	V24454fs, V24579fs, V24646fs, V30951fs, V31878fs, V33519fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515624.	NM_001267550.2(TTN):c.102946del (p.Tyr34316fs) GRCh37: Chr2:179398396 GRCh38: Chr2:178533669	TTN, TTN-AS1	Y25251fs, Y25376fs, Y25443fs, Y31748fs, Y32675fs, Y34316fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515525.	NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter) GRCh37: Chr2:179396885 GRCh38: Chr2:178532158	TTN, TTN-AS1	Y25754, Y25879, Y25946, Y32251, Y33178, Y34819	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515426.	NM_004281.4(BAG3):c.1153_1160del (p.Ser385fs) GRCh37: Chr10:121436214-121436221 GRCh38: Chr10:119676702-119676709	BAG3	S385fs	Primary dilated cardiomyopathy	Pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515327.	NM_001458.5(FLNC):c.2785_2786del (p.Thr929fs) GRCh37: Chr7:128483603-128483604 GRCh38: Chr7:128843549-128843550	FLNC	T929fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515228.	NM_004415.4(DSP):c.3617del (p.Asn1205_Leu1206insTer) GRCh37: Chr6:7580038 GRCh38: Chr6:7579805	DSP		Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515129.	NM_004415.4(DSP):c.2614A>T (p.Lys872Ter) GRCh37: Chr6:7575705 GRCh38: Chr6:7575472	DSP	K872*	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250515030.	NM_000335.5(SCN5A):c.528dup (p.Leu177fs) GRCh37: Chr3:38662416-38662417 GRCh38: Chr3:38620925-38620926	SCN5A	L177fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514931.	NM_002230.4(JUP):c.1291_1292del (p.Gln431fs) GRCh37: Chr17:39919440-39919441 GRCh38: Chr17:41763188-41763189	JUP	Q431fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514832.	NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr) GRCh37: Chr3:38595805 GRCh38: Chr3:38554314	SCN5A	I1539T, I1574T, I1575T, I1592T, I1593T	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514733.	NM_001267550.2(TTN):c.3780T>G (p.Tyr1260Ter) GRCh37: Chr2:179644139 GRCh38: Chr2:178779412	LOC101927055, TTN	Y1214, Y1260	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514634.	NM_001267550.2(TTN):c.8023A>T (p.Arg2675Ter) GRCh37: Chr2:179636031 GRCh38: Chr2:178771304	TTN	R2629, R2675	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514535.	NM_001267550.2(TTN):c.14334T>G (p.Tyr4778Ter) GRCh37: Chr2:179602846 GRCh38: Chr2:178738119	TTN	Y3534, Y4415, Y4461, Y4540, Y4607, Y4778	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514436.	NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter) GRCh37: Chr2:179495832 GRCh38: Chr2:178631105	TTN	L12080, L13007, L14648, L5583, L5708, L5775	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514337.	NM_001267550.2(TTN):c.46630del (p.Arg15544fs) GRCh37: Chr2:179484414 GRCh38: Chr2:178619687	TTN, TTN-AS1	R12976fs, R13903fs, R15544fs, R6479fs, R6604fs, R6671fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514238.	NM_001267550.2(TTN):c.46759del (p.Met15587fs) GRCh37: Chr2:179483518 GRCh38: Chr2:178618791	TTN, TTN-AS1	M13019fs, M13946fs, M15587fs, M6522fs, M6647fs, M6714fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514139.	NM_001267550.2(TTN):c.47784del (p.Asn15928fs) GRCh37: Chr2:179481938 GRCh38: Chr2:178617211	TTN, TTN-AS1	N13360fs, N14287fs, N15928fs, N6863fs, N6988fs, N7055fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250514040.	NM_001267550.2(TTN):c.51129dup (p.Val17044fs) GRCh37: Chr2:179475726-179475727 GRCh38: Chr2:178610999-178611000	TTN, TTN-AS1	V14476fs, V15403fs, V17044fs, V7979fs, V8104fs, V8171fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513941.	NM_001267550.2(TTN):c.51302del (p.Glu17101fs) GRCh37: Chr2:179474951 GRCh38: Chr2:178610224	TTN, TTN-AS1	E14533fs, E15460fs, E17101fs, E8036fs, E8161fs, E8228fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513842.	NM_000257.4(MYH7):c.4351A>G (p.Lys1451Glu) GRCh37: Chr14:23886714 GRCh38: Chr14:23417505	MHRT, MYH7	K1451E	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513743.	NM_001267550.2(TTN):c.53606del (p.Leu17869fs) GRCh37: Chr2:179470416 GRCh38: Chr2:178605689	TTN, TTN-AS1	L15301fs, L16228fs, L17869fs, L8804fs, L8929fs, L8996fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513644.	NM_001267550.2(TTN):c.56892dup (p.Ala18965fs) GRCh37: Chr2:179463544-179463545 GRCh38: Chr2:178598817-178598818	TTN, TTN-AS1	A10025fs, A10092fs, A16397fs, A17324fs, A18965fs, A9900fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513545.	NM_001267550.2(TTN):c.59186_59188delinsCTTCT (p.Arg19729fs) GRCh37: Chr2:179457658-179457660 GRCh38: Chr2:178592931-178592933	TTN, TTN-AS1	R10664fs, R10789fs, R10856fs, R17161fs, R18088fs, R19729fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513446.	NM_001267550.2(TTN):c.64259dup (p.Val21421fs) GRCh37: Chr2:179451368-179451369 GRCh38: Chr2:178586641-178586642	TTN, TTN-AS1	V12356fs, V12481fs, V12548fs, V18853fs, V19780fs, V21421fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513347.	NM_001267550.2(TTN):c.65819dup (p.Asn21940fs) GRCh37: Chr2:179447710-179447711 GRCh38: Chr2:178582983-178582984	TTN, TTN-AS1	N12875fs, N13000fs, N13067fs, N19372fs, N20299fs, N21940fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513248.	NM_001267550.2(TTN):c.67875_67876dup (p.Lys22626fs) GRCh37: Chr2:179443880-179443881 GRCh38: Chr2:178579153-178579154	LOC126806423, TTN, TTN-AS1	K13561fs, K13686fs, K13753fs, K20058fs, K20985fs, K22626fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513149.	NM_001267550.2(TTN):c.70045G>T (p.Glu23349Ter) GRCh37: Chr2:179440814 GRCh38: Chr2:178576087	LOC126806422, TTN, TTN-AS1	E14284, E14409, E14476, E20781, E21708, E23349	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250513050.	NM_001267550.2(TTN):c.72431G>A (p.Trp24144Ter) GRCh37: Chr2:179438428 GRCh38: Chr2:178573701	TTN, TTN-AS1	W15079, W15204, W15271, W21576, W22503, W24144	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512951.	NM_001267550.2(TTN):c.74242del (p.Thr24748fs) GRCh37: Chr2:179436617 GRCh38: Chr2:178571890	TTN, TTN-AS1	T15683fs, T15808fs, T15875fs, T22180fs, T23107fs, T24748fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512852.	NM_001267550.2(TTN):c.74370_74373dup (p.Asn24792delinsAspTer) GRCh37: Chr2:179436485-179436486 GRCh38: Chr2:178571758-178571759	TTN, TTN-AS1		Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512753.	NM_001276345.2(TNNT2):c.630G>C (p.Lys210Asn) GRCh37: Chr1:201331130 GRCh38: Chr1:201362002	TNNT2	K167N, K194N, K195N, K197N, K199N, K200N, K207N, K210N	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512654.	NM_001267550.2(TTN):c.74560del (p.Thr24854fs) GRCh37: Chr2:179436299 GRCh38: Chr2:178571572	TTN, TTN-AS1	T15789fs, T15914fs, T15981fs, T22286fs, T23213fs, T24854fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512555.	NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs) GRCh37: Chr2:179431788-179431789 GRCh38: Chr2:178567061-178567062	TTN, TTN-AS1	Y17292fs, Y17417fs, Y17484fs, Y23789fs, Y24716fs, Y26357fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512456.	NM_001267550.2(TTN):c.80398dup (p.Met26800fs) GRCh37: Chr2:179430460-179430461 GRCh38: Chr2:178565733-178565734	TTN, TTN-AS1	M17735fs, M17860fs, M17927fs, M24232fs, M25159fs, M26800fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512357.	NM_001267550.2(TTN):c.80413del (p.Glu26805fs) GRCh37: Chr2:179430446 GRCh38: Chr2:178565719	TTN, TTN-AS1	E17740fs, E17865fs, E17932fs, E24237fs, E25164fs, E26805fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512258.	NM_001267550.2(TTN):c.83340_83341delinsTTT (p.Lys27780fs) GRCh37: Chr2:179427518-179427519 GRCh38: Chr2:178562791-178562792	TTN, TTN-AS1	K18715fs, K18840fs, K18907fs, K25212fs, K26139fs, K27780fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512159.	NM_001267550.2(TTN):c.84757del (p.Cys28253fs) GRCh37: Chr2:179426102 GRCh38: Chr2:178561375	TTN, TTN-AS1	C19188fs, C19313fs, C19380fs, C25685fs, C26612fs, C28253fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250512060.	NM_001267550.2(TTN):c.86168del (p.Phe28723fs) GRCh37: Chr2:179424691 GRCh38: Chr2:178559964	TTN, TTN-AS1	F19658fs, F19783fs, F19850fs, F26155fs, F27082fs, F28723fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250511961.	NM_001267550.2(TTN):c.86821+1G>C GRCh37: Chr2:179424037 GRCh38: Chr2:178559310	TTN, TTN-AS1		Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250511862.	NM_001267550.2(TTN):c.87706+1G>C GRCh37: Chr2:179422374 GRCh38: Chr2:178557647	TTN, TTN-AS1		Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250511763.	NM_001267550.2(TTN):c.91613_91620del (p.Ile30538fs) GRCh37: Chr2:179414945-179414952 GRCh38: Chr2:178550218-178550225	TTN, TTN-AS1	I21473fs, I21598fs, I21665fs, I27970fs, I28897fs, I30538fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 250511664.	NM_001276345.2(TNNT2):c.652A>G (p.Lys218Glu) GRCh37: Chr1:201331108 GRCh38: Chr1:201361980	TNNT2	K175E, K202E, K203E, K205E, K207E, K208E, K215E, K218E	Primary dilated cardiomyopathy	Likely pathogenic (Jul 21, 2022)	no assertion criteria provided
Select item 244182865.	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 243891366.	NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro) GRCh37: Chr5:132228794 GRCh38: Chr5:132893102	AFF4	R775P	Primary dilated cardiomyopathy, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243151167.	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 242595368.	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 242559469.	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 242141070.	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 241706571.	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 220359772.	NM_014476.6(PDLIM3):c.805del (p.Ala269fs) GRCh37: Chr4:186425729 GRCh38: Chr4:185504575	PDLIM3	A181fs, A102fs, A269fs, A221fs	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 220316273.	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 220246574.	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 220169175.	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 220157676.	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 220121177.	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 219971678.	NM_014476.6(PDLIM3):c.851G>A (p.Gly284Asp) GRCh37: Chr4:186425683 GRCh38: Chr4:185504529	PDLIM3	G196D, G236D, G117D, G284D	Inborn genetic diseases, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219951379.	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 219883680.	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 219808781.	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 219807782.	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 219775683.	NM_001318895.3(FHL2):c.501+16C>T GRCh37: Chr2:105984011 GRCh38: Chr2:105367554	C2orf49, FHL2		Primary dilated cardiomyopathy	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 219756684.	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 219742985.	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 219687386.	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 219618587.	NM_014476.6(PDLIM3):c.269C>T (p.Pro90Leu) GRCh37: Chr4:186444577 GRCh38: Chr4:185523423	PDLIM3	P90L	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Inborn genetic diseases	Uncertain significance (Mar 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219618188.	NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys) GRCh37: Chr10:21120505 GRCh38: Chr10:20831576	NEBL	Y486C	Primary dilated cardiomyopathy, Inborn genetic diseases	Uncertain significance (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219597889.	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 219595090.	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 219562091.	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 219524392.	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 219430093.	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 219215994.	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 219125095.	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 219038796.	NM_014476.6(PDLIM3):c.875C>T (p.Pro292Leu) GRCh37: Chr4:186425659 GRCh38: Chr4:185504505	PDLIM3	P292L, P125L, P204L, P244L	Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Inborn genetic diseases	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218939297.	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 218718998.	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 218692699.	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 2186909100.	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

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