ClinVar for MedGen (Select 324741) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25060781.	NM_001267550.2(TTN):c.6564dup (p.Asp2189fs) GRCh37: Chr2:179639873-179639874 GRCh38: Chr2:178775146-178775147	TTN	D2143fs, D2189fs	Autosomal recessive limb-girdle muscular dystrophy type 2J	Pathogenic (May 9, 2023)	criteria provided, single submitter
Select item 25038482.	NM_001267550.2(TTN):c.52567del (p.Leu17523fs) GRCh37: Chr2:179473043 GRCh38: Chr2:178608316	LOC126806425, TTN, TTN-AS1	L14955fs, L15882fs, L17523fs, L8458fs, L8583fs, L8650fs	Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Apr 24, 2023)	criteria provided, single submitter
Select item 25009643.	NM_001267550.2(TTN):c.16055-3C>G GRCh37: Chr2:179597851 GRCh38: Chr2:178733124	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 25008814.	NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer) GRCh37: Chr2:179632856-179632857 GRCh38: Chr2:178768129-178768130	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 25008805.	NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs) GRCh37: Chr2:179552872-179552875 GRCh38: Chr2:178688145-178688148	TTN	E10442fs, E10759fs, E9515fs	Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 25008766.	NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs) GRCh37: Chr2:179393063-179393066 GRCh38: Chr2:178528336-178528339	TTN, TTN-AS1	K26706fs, K26831fs, K26898fs, K33203fs, K34130fs, K35771fs	Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 25001067.	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	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure	Pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 24981378.	NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter) GRCh37: Chr2:179431763 GRCh38: Chr2:178567036	TTN, TTN-AS1	K17301, K17426, K17493, K23798, K24725, K26366	Autosomal recessive limb-girdle muscular dystrophy type 2J	Pathogenic (May 8, 2021)	criteria provided, single submitter
Select item 24441409.	NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys) GRCh37: Chr2:179643837 GRCh38: Chr2:178779110	LOC101927055, TTN	W1278C, W1324C	Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 244211110.	NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala) GRCh37: Chr2:179485022 GRCh38: Chr2:178620295	TTN	V12841A, V13768A, V15409A, V6344A, V6469A, V6536A	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 244184511.	NM_001267550.2(TTN):c.71544T>G (p.His23848Gln) GRCh37: Chr2:179439315 GRCh38: Chr2:178574588	TTN, TTN-AS1	H14783Q, H14908Q, H14975Q, H21280Q, H22207Q, H23848Q	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter
Select item 244180512.	NM_001267550.2(TTN):c.93043G>C (p.Asp31015His) GRCh37: Chr2:179413310 GRCh38: Chr2:178548583	TTN, TTN-AS1	D21950H, D22075H, D22142H, D28447H, D29374H, D31015H	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Feb 5, 2021)	criteria provided, single submitter
Select item 244175513.	NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile) GRCh37: Chr2:179413282 GRCh38: Chr2:178548555	TTN, TTN-AS1	T21959I, T22084I, T22151I, T28456I, T29383I, T31024I	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 244174414.	NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys) GRCh37: Chr2:179547517 GRCh38: Chr2:178682790	TTN	E10684K, E11001K, E9757K	Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 244174115.	NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln) GRCh37: Chr2:179463358 GRCh38: Chr2:178598631	TTN, TTN-AS1	K10056Q, K10123Q, K16428Q, K17355Q, K18996Q, K9931Q	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Nov 9, 2022)	criteria provided, single submitter
Select item 244174016.	NM_001267550.2(TTN):c.33910+3A>G GRCh37: Chr2:179543138 GRCh38: Chr2:178678411	TTN		Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 244173717.	NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val) GRCh37: Chr2:179635229 GRCh38: Chr2:178770502	TTN	L2718V, L2764V	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 244172618.	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	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 244169719.	NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn) GRCh37: Chr2:179615979 GRCh38: Chr2:178751252	TTN	K3716N	Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, 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 244169520.	NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr) GRCh37: Chr2:179402563 GRCh38: Chr2:178537836	TTN, TTN-AS1	I24059T, I24184T, I24251T, I30556T, I31483T, I33124T	Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Nov 7, 2022)	criteria provided, single submitter
Select item 244162721.	NM_001267550.2(TTN):c.86822-8T>G GRCh37: Chr2:179423372 GRCh38: Chr2:178558645	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure	Uncertain significance (Mar 5, 2021)	criteria provided, single submitter
Select item 243155622.	NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys) GRCh37: Chr2:179472991 GRCh38: Chr2:178608264	LOC126806425, TTN, TTN-AS1	Y14972C, Y15899C, Y17540C, Y8475C, Y8600C, Y8667C	Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 243151323.	NM_001267550.2(TTN):c.92755C>T (p.Arg30919Trp) GRCh37: Chr2:179413598 GRCh38: Chr2:178548871	TTN, TTN-AS1	R21854W, R21979W, R22046W, R28351W, R29278W, R30919W	Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 243145424.	NM_001267550.2(TTN):c.33694A>G (p.Lys11232Glu) GRCh37: Chr2:179544114 GRCh38: Chr2:178679387	TTN	K10915E, K11232E, K9988E	Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 242847925.	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 242821826.	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 242820727.	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 242816028.	NM_001267550.2(TTN):c.59627-17T>C GRCh37: Chr2:179457021 GRCh38: Chr2:178592294	LOC126806424, TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 242798729.	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 242405630.	NC_000002.11:g.(?_179557204)_(179600821_?)dup GRCh37: Chr2:179557204-179600821	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 242405531.	NC_000002.11:g.(?_179485829)_(179486735_?)dup GRCh37: Chr2:179485829-179486735	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 242405432.	NC_000002.11:g.(?_179480014)_(179501546_?)dup GRCh37: Chr2:179480014-179501546	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 242405333.	NC_000002.11:g.(?_179296824)_(179914668_?)dup GRCh37: Chr2:179296824-179914668	CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 242405234.	NC_000002.11:g.(?_179669259)_(179669369_?)del GRCh37: Chr2:179669259-179669369	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 242405135.	NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr) GRCh37: Chr2:179397966 GRCh38: Chr2:178533239	TTN, TTN-AS1	K25394T, K25519T, K25586T, K31891T, K32818T, K34459T	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 242405036.	NC_000002.11:g.(?_179425856)_(179596206_?)del GRCh37: Chr2:179425856-179596206	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 242404937.	NC_000002.11:g.(?_179599275)_(179603834_?)del GRCh37: Chr2:179599275-179603834	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 242404838.	NC_000002.11:g.(?_179405446)_(179408110_?)del GRCh37: Chr2:179405446-179408110	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 242404739.	NC_000002.11:g.(?_179407899)_(179439276_?)del GRCh37: Chr2:179407899-179439276	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 242404640.	NC_000002.11:g.(?_179517005)_(179517288_?)del GRCh37: Chr2:179517005-179517288	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 242404541.	NC_000002.11:g.(?_179425803)_(179544953_?)del GRCh37: Chr2:179425803-179544953	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 242404442.	NC_000002.11:g.(?_179648902)_(179655378_?)del GRCh37: Chr2:179648902-179655378	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 242404343.	NC_000002.11:g.(?_179504005)_(179560850_?)del GRCh37: Chr2:179504005-179560850	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 242404244.	NC_000002.11:g.(?_179426336)_(179569921_?)del GRCh37: Chr2:179426336-179569921	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 242404145.	NC_000002.11:g.(?_179659854)_(179661632_?)del GRCh37: Chr2:179659854-179661632	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242404046.	NC_000002.11:g.(?_179542832)_(179617927_?)del GRCh37: Chr2:179542832-179617927	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 242403947.	NC_000002.11:g.(?_179296824)_(179518254_?)del GRCh37: Chr2:179296824-179518254	FKBP7, PJVK, PLEKHA3, PRKRA, TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 242403848.	NC_000002.11:g.(?_179517945)_(179528263_?)del GRCh37: Chr2:179517945-179528263	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 242403749.	NC_000002.11:g.(?_179542328)_(179542955_?)del GRCh37: Chr2:179542328-179542955	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 242403650.	NC_000002.11:g.(?_179549037)_(179550345_?)del GRCh37: Chr2:179549037-179550345	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 242403451.	NC_000002.11:g.(?_179555009)_(179560143_?)del GRCh37: Chr2:179555009-179560143	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 242403352.	NC_000002.11:g.(?_179563550)_(179565950_?)del GRCh37: Chr2:179563550-179565950	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 242175453.	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 242135754.	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 242134555.	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 242120256.	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 242117157.	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 242071858.	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 242060459.	NM_001267550.2(TTN):c.50248+19T>C GRCh37: Chr2:179476985 GRCh38: Chr2:178612258	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 242047860.	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 242026661.	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 242001262.	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 241984363.	NM_001267550.2(TTN):c.29605-19T>G GRCh37: Chr2:179569712 GRCh38: Chr2:178704985	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 241983764.	NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg) GRCh37: Chr2:179397243 GRCh38: Chr2:178532516	TTN, TTN-AS1	P25635R, P25760R, P25827R, P32132R, P33059R, P34700R	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 241974565.	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 241889166.	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	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 241875967.	NM_001267550.2(TTN):c.41329+16C>T GRCh37: Chr2:179501109 GRCh38: Chr2:178636382	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 241872668.	NM_001267550.2(TTN):c.35713+1del GRCh37: Chr2:179532168 GRCh38: Chr2:178667441	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 241856969.	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 241852170.	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 241823371.	NM_001267550.2(TTN):c.103156G>A (p.Val34386Met) GRCh37: Chr2:179398186 GRCh38: Chr2:178533459	TTN, TTN-AS1	V25321M, V25446M, V25513M, V31818M, V32745M, V34386M	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 241822672.	NM_001267550.2(TTN):c.20667del (p.Glu6890fs) GRCh37: Chr2:179590264 GRCh38: Chr2:178725537	TTN	E5646fs, E6573fs, E6890fs	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 241800373.	NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val) GRCh37: Chr2:179398356 GRCh38: Chr2:178533629	TTN, TTN-AS1	A25264V, A25389V, A25456V, A31761V, A32688V, A34329V	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 241787274.	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 241777875.	NM_001267550.2(TTN):c.31927+12C>A GRCh37: Chr2:179554230 GRCh38: Chr2:178689503	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 241746076.	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 241715577.	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 241707378.	NM_001267550.2(TTN):c.2370+5G>A GRCh37: Chr2:179650570 GRCh38: Chr2:178785843	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 241691879.	NM_001267550.2(TTN):c.40222+18T>C GRCh37: Chr2:179511773 GRCh38: Chr2:178647046	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241685580.	NM_001267550.2(TTN):c.96999T>A (p.Arg32333=) GRCh37: Chr2:179407582 GRCh38: Chr2:178542855	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 241646781.	NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter) GRCh37: Chr2:179427627 GRCh38: Chr2:178562900	TTN, TTN-AS1	Y18679, Y18804, Y18871, Y25176, Y26103, Y27744	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 241613882.	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 241613583.	NM_001267550.2(TTN):c.19147+13T>A GRCh37: Chr2:179593605 GRCh38: Chr2:178728878	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 241604284.	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 241596985.	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
Select item 241555486.	NM_001267550.2(TTN):c.45617-15G>A GRCh37: Chr2:179485735 GRCh38: Chr2:178621008	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 241535187.	NM_001267550.2(TTN):c.50551+12T>G GRCh37: Chr2:179476473 GRCh38: Chr2:178611746	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 241525088.	NM_001267550.2(TTN):c.68825-9dup GRCh37: Chr2:179442245-179442246 GRCh38: Chr2:178577518-178577519	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 241518589.	NM_001267550.2(TTN):c.41330-19A>G GRCh37: Chr2:179500987 GRCh38: Chr2:178636260	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 241517790.	NM_001267550.2(TTN):c.56051-16T>A GRCh37: Chr2:179464593 GRCh38: Chr2:178599866	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 241517591.	NM_001267550.2(TTN):c.39626-13A>T GRCh37: Chr2:179515574 GRCh38: Chr2:178650847	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 241493592.	NM_001267550.2(TTN):c.15346C>A (p.Arg5116=) GRCh37: Chr2:179599205 GRCh38: Chr2:178734478	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 241466593.	NM_001267550.2(TTN):c.50919C>T (p.Ser16973=) GRCh37: Chr2:179475937 GRCh38: Chr2:178611210	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 241411894.	NM_001267550.2(TTN):c.33597G>A (p.Arg11199=) GRCh37: Chr2:179544393 GRCh38: Chr2:178679666	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 241393095.	NM_001267550.2(TTN):c.77781T>A (p.Ile25927=) GRCh37: Chr2:179433078 GRCh38: Chr2:178568351	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 241392496.	NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr) GRCh37: Chr2:179410613 GRCh38: Chr2:178545886	TTN, TTN-AS1	A22719T, A22844T, A22911T, A29216T, A30143T, A31784T	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 241391897.	NM_001267550.2(TTN):c.34378+18G>T GRCh37: Chr2:179541910 GRCh38: Chr2:178677183	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 241350798.	NM_001267550.2(TTN):c.21501A>G (p.Lys7167=) GRCh37: Chr2:179588326 GRCh38: Chr2:178723599	TTN		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 241350699.	NM_001267550.2(TTN):c.72015A>T (p.Ala24005=) GRCh37: Chr2:179438844 GRCh38: Chr2:178574117	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 2413505100.	NM_001267550.2(TTN):c.79233T>C (p.Asp26411=) GRCh37: Chr2:179431626 GRCh38: Chr2:178566899	TTN, TTN-AS1		Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely benign (Jul 3, 2022)	criteria provided, single submitter

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