ClinVar for MedGen (Select 347714) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023501.	NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs) GRCh37: Chr2:179407010-179407011 GRCh38: Chr2:178542283-178542284	TTN, TTN-AS1	I23426fs, I23551fs, I23618fs, I29923fs, I30850fs, I32491fs	Dilated cardiomyopathy 1G	Likely pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 25023162.	NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer) GRCh37: Chr2:179437659 GRCh38: Chr2:178572932	TTN, TTN-AS1		Dilated cardiomyopathy 1G	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 25022653.	NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile) GRCh37: Chr2:179592896 GRCh38: Chr2:178728169	TTN	T5308I, T6235I, T6552I	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 25022404.	NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu) GRCh37: Chr2:179536701 GRCh38: Chr2:178671974	TTN	K10441E, K11368E, K11742E	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 25022345.	NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys) GRCh37: Chr2:179545869 GRCh38: Chr2:178681142	TTN	E10776K, E11093K, E9849K	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 25022336.	NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala) GRCh37: Chr2:179430565 GRCh38: Chr2:178565838	TTN, TTN-AS1	V17700A, V17825A, V17892A, V24197A, V25124A, V26765A	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 25022327.	NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr) GRCh37: Chr2:179518601 GRCh38: Chr2:178653874	TTN	A12830T	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 25022158.	NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile) GRCh37: Chr2:179571316 GRCh38: Chr2:178706589	TTN	T8518I, T9445I, T9762I	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 25022149.	NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys) GRCh37: Chr2:179495632 GRCh38: Chr2:178630905	TTN	E12117K, E13044K, E14685K, E5620K, E5745K, E5812K	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 250220310.	NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys) GRCh37: Chr2:179418702 GRCh38: Chr2:178553975	TTN, TTN-AS1	N20647K, N20772K, N20839K, N27144K, N28071K, N29712K	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 250220211.	NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr) GRCh37: Chr2:179470281 GRCh38: Chr2:178605554	TTN, TTN-AS1	K15346T, K16273T, K17914T, K8849T, K8974T, K9041T	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 250219412.	NM_001267550.2(TTN):c.19993+6C>T GRCh37: Chr2:179592306 GRCh38: Chr2:178727579	LOC126806429, TTN		Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 250218413.	NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala) GRCh37: Chr2:179578732 GRCh38: Chr2:178714005	TTN	S7641A, S8568A, S8885A	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 250215714.	NM_001267550.2(TTN):c.628A>G (p.Thr210Ala) GRCh37: Chr2:179664593 GRCh38: Chr2:178799866	TTN	T210A	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 250215315.	NM_001267550.2(TTN):c.52405+4A>G GRCh37: Chr2:179473329 GRCh38: Chr2:178608602	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 250180116.	NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter) GRCh37: Chr2:179414448 GRCh38: Chr2:178549721	TTN, TTN-AS1	W21602, W21727, W21794, W28099, W29026, W30667	Dilated cardiomyopathy 1G	Pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 250169417.	NM_001267550.2(TTN):c.75820_75823del (p.Glu25274fs) GRCh37: Chr2:179435036-179435039 GRCh38: Chr2:178570309-178570312	TTN, TTN-AS1	E16209fs, E16334fs, E16401fs, E22706fs, E23633fs, E25274fs	Dilated cardiomyopathy 1G	Likely pathogenic (Feb 3, 2023)	criteria provided, single submitter
Select item 250169318.	NM_001267550.2(TTN):c.95237A>G (p.Glu31746Gly) GRCh37: Chr2:179410726 GRCh38: Chr2:178545999	TTN, TTN-AS1	E22681G, E22806G, E22873G, E29178G, E30105G, E31746G	Dilated cardiomyopathy 1G	Uncertain significance (Feb 3, 2023)	criteria provided, single submitter
Select item 250010619.	NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter) GRCh37: Chr2:179451375-179451376 GRCh38: Chr2:178586648-178586649	TTN, TTN-AS1	Y12353, Y12478, Y12545, Y18850, Y19777, Y21418	Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure	Pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 244426620.	NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs) GRCh37: Chr2:179452741-179452744 GRCh38: Chr2:178588014-178588017	TTN, TTN-AS1	F12065fs, F12190fs, F12257fs, F18562fs, F19489fs, F21130fs	Dilated cardiomyopathy 1G	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244407021.	NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter) GRCh37: Chr2:179466146 GRCh38: Chr2:178601419	TTN-AS1, TTN	W15958, W16885, W18526, W9461, W9586, W9653	Dilated cardiomyopathy 1G	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244212622.	NM_001267550.2(TTN):c.98989+2T>C GRCh37: Chr2:179403671 GRCh38: Chr2:178538944	TTN, TTN-AS1		Dilated cardiomyopathy 1G	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 244211123.	NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala) GRCh37: Chr2:179485022 GRCh38: Chr2:178620295	TTN	V12841A, V13768A, V15409A, V6344A, V6469A, V6536A	Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 244201724.	NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter) GRCh37: Chr2:179519496 GRCh38: Chr2:178654769	TTN	K12728*	Dilated cardiomyopathy 1G	Likely pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 244184525.	NM_001267550.2(TTN):c.71544T>G (p.His23848Gln) GRCh37: Chr2:179439315 GRCh38: Chr2:178574588	TTN, TTN-AS1	H14783Q, H14908Q, H14975Q, H21280Q, H22207Q, H23848Q	Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter
Select item 244180526.	NM_001267550.2(TTN):c.93043G>C (p.Asp31015His) GRCh37: Chr2:179413310 GRCh38: Chr2:178548583	TTN, TTN-AS1	D21950H, D22075H, D22142H, D28447H, D29374H, D31015H	Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter
Select item 244175527.	NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile) GRCh37: Chr2:179413282 GRCh38: Chr2:178548555	TTN-AS1, TTN	T21959I, T22084I, T22151I, T28456I, T29383I, T31024I	Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 244174428.	NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys) GRCh37: Chr2:179547517 GRCh38: Chr2:178682790	TTN	E10684K, E11001K, E9757K	Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 244174129.	NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln) GRCh37: Chr2:179463358 GRCh38: Chr2:178598631	TTN, TTN-AS1	K10056Q, K10123Q, K16428Q, K17355Q, K18996Q, K9931Q	Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Nov 9, 2022)	criteria provided, single submitter
Select item 244174030.	NM_001267550.2(TTN):c.33910+3A>G GRCh37: Chr2:179543138 GRCh38: Chr2:178678411	TTN		Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 244173731.	NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val) GRCh37: Chr2:179635229 GRCh38: Chr2:178770502	TTN	L2718V, L2764V	Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 244172632.	NM_001267550.2(TTN):c.52694_52695del (p.His17565fs) GRCh37: Chr2:179472915-179472916 GRCh38: Chr2:178608188-178608189	LOC126806425, TTN, TTN-AS1	H14997fs, H15924fs, H17565fs, H8500fs, H8625fs, H8692fs	Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 244169733.	NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn) GRCh37: Chr2:179615979 GRCh38: Chr2:178751252	TTN	K3716N	Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 244169534.	NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr) GRCh37: Chr2:179402563 GRCh38: Chr2:178537836	TTN, TTN-AS1	I24059T, I24184T, I24251T, I30556T, I31483T, I33124T	Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Nov 7, 2022)	criteria provided, single submitter
Select item 244162735.	NM_001267550.2(TTN):c.86822-8T>G GRCh37: Chr2:179423372 GRCh38: Chr2:178558645	TTN, TTN-AS1		Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 5, 2021)	criteria provided, single submitter
Select item 243834036.	NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile) GRCh37: Chr2:179418791 GRCh38: Chr2:178554064	TTN, TTN-AS1	V20618I, V20743I, V20810I, V27115I, V28042I, V29683I	not provided, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243191537.	NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter) GRCh37: Chr2:179505328 GRCh38: Chr2:178640601	TTN	E10987, E11914, E13555, E4490, E4615, E4682	Dilated cardiomyopathy 1G	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 243024838.	NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs) GRCh37: Chr2:179469005-179469008 GRCh38: Chr2:178604278-178604281	TTN-AS1, TTN	Q15568fs, Q16495fs, Q18136fs, Q9071fs, Q9196fs, Q9263fs	Dilated cardiomyopathy 1G	Likely pathogenic (Feb 6, 2023)	criteria provided, single submitter
Select item 242933339.	NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter) GRCh37: Chr2:179451383 GRCh38: Chr2:178586656	TTN-AS1, TTN	W12350, W12475, W12542, W18847, W19774, W21415	Dilated cardiomyopathy 1G	Likely pathogenic (Feb 3, 2023)	criteria provided, single submitter
Select item 242847940.	NM_001267550.2(TTN):c.41253C>A (p.Ser13751=) GRCh37: Chr2:179501201 GRCh38: Chr2:178636474	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 242821841.	NM_001267550.2(TTN):c.62517G>A (p.Gly20839=) GRCh37: Chr2:179453935 GRCh38: Chr2:178589208	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 242820742.	NM_001267550.2(TTN):c.7857T>C (p.Gly2619=) GRCh37: Chr2:179636197 GRCh38: Chr2:178771470	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 242816043.	NM_001267550.2(TTN):c.59627-17T>C GRCh37: Chr2:179457021 GRCh38: Chr2:178592294	LOC126806424, TTN, TTN-AS1		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 242798744.	NM_001267550.2(TTN):c.6509-16del GRCh37: Chr2:179639945 GRCh38: Chr2:178775218	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Benign (Sep 15, 2022)	criteria provided, single submitter
Select item 242405645.	NC_000002.11:g.(?_179557204)_(179600821_?)dup GRCh37: Chr2:179557204-179600821	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 242405546.	NC_000002.11:g.(?_179485829)_(179486735_?)dup GRCh37: Chr2:179485829-179486735	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 242405447.	NC_000002.11:g.(?_179480014)_(179501546_?)dup GRCh37: Chr2:179480014-179501546	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 242405348.	NC_000002.11:g.(?_179296824)_(179914668_?)dup GRCh37: Chr2:179296824-179914668	PLEKHA3, PJVK, FKBP7, PRKRA, TTN, CCDC141		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 242405249.	NC_000002.11:g.(?_179669259)_(179669369_?)del GRCh37: Chr2:179669259-179669369	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 242405150.	NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr) GRCh37: Chr2:179397966 GRCh38: Chr2:178533239	TTN-AS1, TTN	K25394T, K25519T, K25586T, K31891T, K32818T, K34459T	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 242405051.	NC_000002.11:g.(?_179425856)_(179596206_?)del GRCh37: Chr2:179425856-179596206	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 242404952.	NC_000002.11:g.(?_179599275)_(179603834_?)del GRCh37: Chr2:179599275-179603834	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 242404853.	NC_000002.11:g.(?_179405446)_(179408110_?)del GRCh37: Chr2:179405446-179408110	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 242404754.	NC_000002.11:g.(?_179407899)_(179439276_?)del GRCh37: Chr2:179407899-179439276	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 242404655.	NC_000002.11:g.(?_179517005)_(179517288_?)del GRCh37: Chr2:179517005-179517288	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 242404556.	NC_000002.11:g.(?_179425803)_(179544953_?)del GRCh37: Chr2:179425803-179544953	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 242404457.	NC_000002.11:g.(?_179648902)_(179655378_?)del GRCh37: Chr2:179648902-179655378	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 242404358.	NC_000002.11:g.(?_179504005)_(179560850_?)del GRCh37: Chr2:179504005-179560850	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 242404259.	NC_000002.11:g.(?_179426336)_(179569921_?)del GRCh37: Chr2:179426336-179569921	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 242404160.	NC_000002.11:g.(?_179659854)_(179661632_?)del GRCh37: Chr2:179659854-179661632	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242404061.	NC_000002.11:g.(?_179542832)_(179617927_?)del GRCh37: Chr2:179542832-179617927	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 242403962.	NC_000002.11:g.(?_179296824)_(179518254_?)del GRCh37: Chr2:179296824-179518254	FKBP7, PLEKHA3, PRKRA, TTN, PJVK		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 242403863.	NC_000002.11:g.(?_179517945)_(179528263_?)del GRCh37: Chr2:179517945-179528263	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 242403764.	NC_000002.11:g.(?_179542328)_(179542955_?)del GRCh37: Chr2:179542328-179542955	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 242403665.	NC_000002.11:g.(?_179549037)_(179550345_?)del GRCh37: Chr2:179549037-179550345	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 242403466.	NC_000002.11:g.(?_179555009)_(179560143_?)del GRCh37: Chr2:179555009-179560143	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 242403367.	NC_000002.11:g.(?_179563550)_(179565950_?)del GRCh37: Chr2:179563550-179565950	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 242175468.	NM_001267550.2(TTN):c.49345+1G>T GRCh37: Chr2:179478778 GRCh38: Chr2:178614051	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 242135769.	NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr) GRCh37: Chr2:179399383 GRCh38: Chr2:178534656	TTN, TTN-AS1	H24922Y, H25047Y, H25114Y, H31419Y, H32346Y, H33987Y	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 242134570.	NM_001267550.2(TTN):c.63187+18T>C GRCh37: Chr2:179453247 GRCh38: Chr2:178588520	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 242120271.	NM_001267550.2(TTN):c.2889G>A (p.Glu963=) GRCh37: Chr2:179647744 GRCh38: Chr2:178783017	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 242117172.	NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn) GRCh37: Chr2:179398423 GRCh38: Chr2:178533696	TTN, TTN-AS1	Y25242N, Y25367N, Y25434N, Y31739N, Y32666N, Y34307N	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 242071873.	NM_001267550.2(TTN):c.65575+16G>A GRCh37: Chr2:179448318 GRCh38: Chr2:178583591	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 242060474.	NM_001267550.2(TTN):c.50248+19T>C GRCh37: Chr2:179476985 GRCh38: Chr2:178612258	TTN-AS1, TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 242047875.	NM_001267550.2(TTN):c.51822A>G (p.Ser17274=) GRCh37: Chr2:179474215 GRCh38: Chr2:178609488	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 242026676.	NM_001267550.2(TTN):c.45477T>G (p.Leu15159=) GRCh37: Chr2:179485968 GRCh38: Chr2:178621241	LOC126806427, TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 242001277.	NM_001267550.2(TTN):c.32037C>T (p.Val10679=) GRCh37: Chr2:179553838 GRCh38: Chr2:178689111	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 241984378.	NM_001267550.2(TTN):c.29605-19T>G GRCh37: Chr2:179569712 GRCh38: Chr2:178704985	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 241983779.	NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg) GRCh37: Chr2:179397243 GRCh38: Chr2:178532516	TTN, TTN-AS1	P25635R, P25760R, P25827R, P32132R, P33059R, P34700R	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 241974580.	NM_001267550.2(TTN):c.38697A>C (p.Pro12899=) GRCh37: Chr2:179518164 GRCh38: Chr2:178653437	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241889181.	NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter) GRCh37: Chr2:179456497 GRCh38: Chr2:178591770	LOC126806424, TTN, TTN-AS1	Q10952, Q11077, Q11144, Q17449, Q18376, Q20017	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 241875982.	NM_001267550.2(TTN):c.41329+16C>T GRCh37: Chr2:179501109 GRCh38: Chr2:178636382	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 241872683.	NM_001267550.2(TTN):c.35713+1del GRCh37: Chr2:179532168 GRCh38: Chr2:178667441	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 241856984.	NM_001267550.2(TTN):c.10788G>A (p.Lys3596=) GRCh37: Chr2:179621415 GRCh38: Chr2:178756688	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 241852185.	NM_001267550.2(TTN):c.56094A>G (p.Glu18698=) GRCh37: Chr2:179464534 GRCh38: Chr2:178599807	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 241823386.	NM_001267550.2(TTN):c.103156G>A (p.Val34386Met) GRCh37: Chr2:179398186 GRCh38: Chr2:178533459	TTN-AS1, TTN	V25321M, V25446M, V25513M, V31818M, V32745M, V34386M	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 241822687.	NM_001267550.2(TTN):c.20667del (p.Glu6890fs) GRCh37: Chr2:179590264 GRCh38: Chr2:178725537	TTN	E5646fs, E6573fs, E6890fs	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 241800388.	NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val) GRCh37: Chr2:179398356 GRCh38: Chr2:178533629	TTN-AS1, TTN	A25264V, A25389V, A25456V, A31761V, A32688V, A34329V	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 241787289.	NM_001267550.2(TTN):c.75489C>G (p.Thr25163=) GRCh37: Chr2:179435370 GRCh38: Chr2:178570643	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 241777890.	NM_001267550.2(TTN):c.31927+12C>A GRCh37: Chr2:179554230 GRCh38: Chr2:178689503	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 241746091.	NM_001267550.2(TTN):c.16683C>T (p.Thr5561=) GRCh37: Chr2:179597013 GRCh38: Chr2:178732286	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 241715592.	NM_001267550.2(TTN):c.30321T>A (p.Ile10107=) GRCh37: Chr2:179567293 GRCh38: Chr2:178702566	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 241707393.	NM_001267550.2(TTN):c.2370+5G>A GRCh37: Chr2:179650570 GRCh38: Chr2:178785843	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 241691894.	NM_001267550.2(TTN):c.40222+18T>C GRCh37: Chr2:179511773 GRCh38: Chr2:178647046	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241685595.	NM_001267550.2(TTN):c.96999T>A (p.Arg32333=) GRCh37: Chr2:179407582 GRCh38: Chr2:178542855	TTN-AS1, TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 241646796.	NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter) GRCh37: Chr2:179427627 GRCh38: Chr2:178562900	TTN-AS1, TTN	Y18679, Y18804, Y18871, Y25176, Y26103, Y27744	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 241613897.	NM_001267550.2(TTN):c.100926C>T (p.Tyr33642=) GRCh37: Chr2:179400416 GRCh38: Chr2:178535689	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 241613598.	NM_001267550.2(TTN):c.19147+13T>A GRCh37: Chr2:179593605 GRCh38: Chr2:178728878	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 241604299.	NM_001267550.2(TTN):c.73995G>T (p.Thr24665=) GRCh37: Chr2:179436864 GRCh38: Chr2:178572137	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 2415969100.	NM_001267550.2(TTN):c.11895T>C (p.Pro3965=) GRCh37: Chr2:179606065 GRCh38: Chr2:178741338	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (May 26, 2022)	criteria provided, single submitter

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