ClinVar Miner

Variants in gene TTN

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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
370 1373 9372 6484 1854 134 15726

Condition and significance breakdown #

Total conditions: 118
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 69 805 3790 3113 704 0 8481
not provided 227 336 3781 1794 362 113 6116
not specified 1 4 2286 2723 1035 2 5175
Dilated cardiomyopathy 1G 20 80 1390 288 123 1 1898
Tibial muscular dystrophy 14 6 537 129 1164 3 1841
Myopathy, myofibrillar, 9, with early respiratory failure 10 5 548 218 1063 2 1838
Myopathy, early-onset, with fatal cardiomyopathy 8 6 1434 190 189 0 1827
Limb-girdle muscular dystrophy, type 2J 21 18 1434 177 170 0 1817
Cardiovascular phenotype 5 59 410 447 339 0 1260
Cardiomyopathy 13 38 438 236 338 2 1055
Primary dilated cardiomyopathy 22 240 114 40 28 1 437
none provided 0 3 85 64 183 0 335
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 4 1 130 0 0 2 137
Hypertrophic cardiomyopathy 1 0 76 42 7 0 126
Limb-Girdle Muscular Dystrophy, Recessive 0 0 36 5 0 0 41
Dilated Cardiomyopathy, Dominant 0 0 35 5 0 0 40
TTN-Related Disorders 2 1 20 0 0 4 27
Inborn genetic diseases 3 2 19 1 0 0 25
Primary familial dilated cardiomyopathy 12 11 0 0 0 0 23
Primary familial hypertrophic cardiomyopathy 0 0 17 4 0 0 21
Dilated cardiomyopathy 1S 0 7 13 0 0 0 20
Familial hypertrophic cardiomyopathy 9 1 4 14 0 0 0 19
Arrhythmogenic right ventricular cardiomyopathy 0 0 5 7 2 0 14
Brugada syndrome 0 0 13 0 1 0 14
Dilated cardiomyopathy 1A 10 3 1 0 0 0 14
Long QT syndrome 0 0 5 2 5 0 12
Ventricular tachycardia 0 0 5 6 0 0 11
Myopathy 4 1 4 0 0 0 9
Cardiomyopathy, left ventricular noncompaction 1 2 5 0 0 0 8
See cases 0 0 5 2 1 0 8
Atrial fibrillation 0 0 2 4 1 0 7
Toe walking 0 0 7 0 0 0 7
Abnormality of neuronal migration 0 0 0 0 4 0 4
Centronuclear myopathy 2 2 0 0 0 0 4
Heart failure 0 0 0 4 0 0 4
Left ventricular hypertrophy 0 0 3 1 0 0 4
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 2 2 0 4
Arrhythmogenic right ventricular dysplasia 9 0 0 2 1 0 0 3
Arrhythmogenic right ventricular dysplasia, familial 1 1 0 2 0 0 0 3
Cardiomyopathy; Ventricular fibrillation 0 0 0 0 3 0 3
Cardiomyopathy; Ventricular tachycardia 0 0 0 0 3 0 3
Congenital muscular dystrophy 0 3 0 0 0 0 3
Delayed speech and language development; Abnormality of eye movement; Generalized hypotonia; Neurological speech impairment; Delayed gross motor development; Muscular hypotonia 0 0 3 0 0 0 3
Familial restrictive cardiomyopathy 0 1 2 0 0 0 3
Left ventricular noncompaction 2 0 1 2 0 0 0 3
Premature ventricular contraction 0 0 1 2 0 0 3
Sudden cardiac arrest 0 0 1 2 0 0 3
Supraventricular tachycardia 0 0 0 2 1 0 3
Ventricular fibrillation 0 0 1 2 0 0 3
Amyloidogenic transthyretin amyloidosis 0 0 0 1 1 0 2
Bilateral talipes equinovarus; Restrictive ventilatory defect; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis 0 0 2 0 0 0 2
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 1 1 0 2
Cardiomyopathy; Long QT syndrome 0 0 0 0 2 0 2
Cardiomyopathy; Long QT syndrome; Heart failure 0 0 0 0 2 0 2
Congenital myopathy 0 1 1 0 0 0 2
Congenital titinopathy 0 2 0 0 0 0 2
Congestive heart failure 0 0 0 2 0 0 2
Dilated cardiomyopathy 1G; Familial hypertrophic cardiomyopathy 9 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy; Supraventricular tachycardia 0 0 0 0 2 0 2
Limb-girdle muscular dystrophy 0 1 1 0 0 0 2
Limb-girdle muscular dystrophy; Muscular dystrophy; Waddling gait; Proximal lower limb amyotrophy; Decreased patellar reflex 0 2 0 0 0 0 2
Multiminicore Disease 1 1 0 0 0 0 2
Muscular dystrophy 0 1 1 0 0 0 2
Myopathy, early-onset, with fatal cardiomyopathy; Congenital titinopathy 2 0 0 0 0 0 2
Neuromuscular disease 1 1 0 0 0 0 2
Primary dilated cardiomyopathy; Heart failure 0 0 0 2 0 0 2
Rare genetic intellectual disability 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 2 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Atrial fibrillation; Brugada syndrome; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Atrial fibrillation; Cardiomyopathy 0 0 0 1 0 0 1
Atrial fibrillation; Congestive heart failure; Ventricular tachycardia 0 0 0 0 1 0 1
Atrial fibrillation; Ventricular tachycardia 0 0 0 0 1 0 1
Brugada syndrome; Supraventricular tachycardia; Ventricular tachycardia 0 0 0 0 1 0 1
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement 0 1 0 0 0 0 1
Cardiomyopathy; Brugada syndrome 0 0 0 1 0 0 1
Cardiomyopathy; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 1
Cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Cardiomyopathy; Supraventricular tachycardia 0 0 0 1 0 0 1
Classic multiminicore myopathy 0 1 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Congenital muscular dystrophy; Scoliosis; Broad-based gait; Delayed gross motor development; Distal muscle weakness; Gowers sign; Severe muscular hypotonia; Heart murmur 0 1 0 0 0 0 1
Diastolic dysfunction 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Familial hypertrophic cardiomyopathy 9 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1 0 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 0 1 0 0 1
Family history of cardiomyopathy 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy; Ventricular tachycardia; Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 1
Interstitial cardiac fibrosis 0 1 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Limb-girdle muscle weakness; Limb-girdle muscle atrophy 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2J; Myopathy, early-onset, with fatal cardiomyopathy 0 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 0 0 0 1
Lower limb muscle weakness 1 0 0 0 0 0 1
Mitral valve prolapse 0 1 0 0 0 0 1
Motor delay 0 0 1 0 0 0 1
Muscular dystrophy; Gait disturbance; EMG abnormality; Late-onset muscular dystrophy; Fatty replacement of skeletal muscle 0 0 1 0 0 0 1
Myopathy with postural muscle atrophy, X-linked 0 0 1 0 0 0 1
Myopathy; Rimmed vacuoles; Lower limb muscle weakness 0 1 0 0 0 0 1
Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Atrial fibrillation 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Brugada syndrome 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Low-output congestive heart failure; Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 0 1
Right ventricular cardiomyopathy 0 0 1 0 0 0 1
Short stature; Failure to thrive; Generalized muscle weakness; Delayed speech and language development; Neurological speech impairment; Abnormality of the immune system; Muscular hypotonia 0 0 0 1 0 0 1
Sudden cardiac death; Cardiac arrest 0 0 0 1 0 0 1
Syncope; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Systolic heart failure 0 0 0 1 0 0 1
TTN-Related disorder 0 0 0 0 0 1 1
Third degree atrioventricular block 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 70 807 3790 3607 713 0 8986
GeneDx 193 165 993 2223 910 108 4592
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 73 2656 296 281 0 3314
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 109 1265 872 549 2 2803
Illumina Clinical Services Laboratory,Illumina 1 1 1463 516 1162 0 1810
Ambry Genetics 8 61 424 448 339 0 1280
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 12 35 424 201 331 0 1003
CeGaT Praxis fuer Humangenetik Tuebingen 12 26 719 219 0 0 976
Athena Diagnostics Inc 4 4 349 113 473 0 943
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 362 175 218 0 755
Integrated Genetics/Laboratory Corporation of America 0 8 131 277 318 0 734
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 7 181 96 198 0 483
Genetic Services Laboratory, University of Chicago 8 1 134 149 131 0 423
PreventionGenetics, PreventionGenetics 0 0 0 64 221 0 285
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 6 4 44 109 90 0 253
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 101 64 0 0 0 162
Fulgent Genetics,Fulgent Genetics 1 0 123 0 0 0 124
Baylor Genetics 9 5 109 0 0 0 123
Genetics and Genomics Program,Sidra Medicine 1 4 65 50 0 0 119
Blueprint Genetics 7 65 37 9 0 0 115
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 37 13 6 12 3 0 71
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 6 29 7 2 0 47
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 16 26 0 0 0 42
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 34 1 1 0 36
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 8 15 1 0 0 24
GenomeConnect, ClinGen 0 0 0 0 0 24 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 3 14 0 0 0 22
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 19 0 2 0 0 21
OMIM 19 0 0 0 0 0 19
Center for Genetic Medicine Research,Children's National Medical Center 0 5 14 0 0 0 19
GeneReviews 17 0 1 0 0 0 18
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 6 8 1 0 16
Broad Institute Rare Disease Group, Broad Institute 9 1 6 0 0 0 16
Mendelics 5 0 2 2 5 0 14
Institute of Human Genetics, University of Leipzig Medical Center 1 3 10 0 0 0 14
New York Genome Center 0 1 13 0 0 0 14
Phosphorus, Inc. 0 0 10 1 2 0 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 11 0 1 0 12
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 9 1 0 0 0 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 7 1 0 0 9
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 5 2 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 5 2 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 4 0 0 0 0 7
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 7 0 0 0 7
Institute of Human Genetics,University of Wuerzburg 4 2 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 2 0 0 0 6
Loeys Lab,Universiteit Antwerpen 6 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Undiagnosed Diseases Network,NIH 1 3 0 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 3 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 3 1 0 0 0 5
Pediatric Department, Peking University First Hospital 3 1 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 3 0 0 0 4
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 4 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 2 0 0 0 0 4
Klaassen Lab,Charite University Medicine Berlin 0 2 2 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 1 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 0 1 0 0 0 0 1
Clinical Genetics Laboratory,Region Ostergotland 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Genatak 0 1 0 0 0 0 1
Clinical Research Group,BGI genomics 0 1 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1

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