ClinVar Miner

Variants in gene TTN

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Gene type:
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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
319 1027 8753 5525 1822 123 13853

Condition and significance breakdown #

Total conditions: 106
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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 38 360 3313 1739 704 0 6154
not provided 218 330 3659 1723 364 108 5933
not specified 1 4 2211 2567 957 2 5037
Dilated cardiomyopathy 1G 19 81 1362 288 123 0 1869
Tibial muscular dystrophy 11 3 518 125 1163 3 1816
Myopathy, early-onset, with fatal cardiomyopathy 5 3 1416 190 189 0 1803
Myopathy, myofibrillar, 9, with early respiratory failure 9 3 511 218 1063 2 1803
Limb-girdle muscular dystrophy, type 2J 18 14 1425 177 170 0 1801
Cardiovascular phenotype 3 60 490 378 329 0 1260
Cardiomyopathy 12 35 438 236 338 2 1051
Hypertrophic cardiomyopathy 2 8 712 247 7 0 967
Primary dilated cardiomyopathy 9 240 71 0 0 0 316
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
Dilated cardiomyopathy 6 5 4 11 28 0 54
Limb-Girdle Muscular Dystrophy, Recessive 0 0 36 5 0 0 41
Dilated Cardiomyopathy, Dominant 0 0 35 5 0 0 40
Inborn genetic diseases 2 2 19 1 0 0 24
TTN-Related Disorders 1 1 20 0 0 1 23
Primary familial hypertrophic cardiomyopathy 0 0 17 4 0 0 21
Dilated cardiomyopathy 1S 0 7 13 0 0 0 20
Familial dilated cardiomyopathy 12 6 0 0 0 0 18
Arrhythmogenic right ventricular cardiomyopathy 0 0 5 7 2 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
Familial hypertrophic cardiomyopathy 9 1 2 5 0 0 0 8
Left ventricular noncompaction cardiomyopathy 1 2 5 0 0 0 8
Atrial fibrillation 0 0 2 4 1 0 7
Abnormality of neuronal migration 0 0 0 0 4 0 4
Brugada syndrome 0 0 3 0 1 0 4
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 2 2 0 4
Heart failure 0 0 0 4 0 0 4
Left ventricular hypertrophy 0 0 3 1 0 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 2 1 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
Familial restrictive cardiomyopathy 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 deficit on pulmonary function testing; 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
Congestive heart failure 0 0 0 2 0 0 2
Heart failure; Dilated cardiomyopathy 0 0 0 2 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
Muscular dystrophy 0 1 1 0 0 0 2
Myopathy, early-onset, with fatal cardiomyopathy; Congenital titinopathy 2 0 0 0 0 0 2
Myotubular myopathy 0 2 0 0 0 0 2
Neuromuscular disease 0 2 0 0 0 0 2
Wolff-Parkinson-White pattern 0 2 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation; Dilated cardiomyopathy 0 0 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 0 0 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; Dilated cardiomyopathy 0 0 0 0 1 0 1
Atrial fibrillation; Ventricular tachycardia 0 0 0 0 1 0 1
Brugada syndrome; Dilated cardiomyopathy 0 0 0 1 0 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
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; Familial hypertrophic cardiomyopathy 9 0 1 0 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; 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
Left ventricular noncompaction 2 0 1 0 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
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; 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
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: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 433 3313 2594 713 0 7095
GeneDx 193 165 992 2223 909 108 4590
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 73 2658 296 281 0 3317
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 109 1284 853 536 2 2788
Illumina Clinical Services Laboratory,Illumina 0 1 1526 620 1162 0 1808
Ambry Genetics 5 62 504 379 329 0 1279
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 12 35 424 201 331 0 1003
CeGaT Praxis fuer Humangenetik Tuebingen 10 24 637 169 0 0 840
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 362 175 218 0 755
Athena Diagnostics Inc 3 4 303 83 322 0 715
Genetic Services Laboratory, University of Chicago 8 1 134 151 129 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 4 107 39 70 0 221
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
Blueprint Genetics 7 65 37 9 0 0 115
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 23 11 3 10 1 0 48
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 16 26 0 0 0 42
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 8 15 1 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 3 14 0 0 0 22
Genetics and Genomics Program,Sidra Medicine 4 18 0 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
GeneReviews 18 0 1 0 0 0 19
Center for Genetic Medicine Research,Children's National Medical Center 0 5 14 0 0 0 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 6 8 1 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 10 1 0 0 16
Broad Institute Rare Disease Group,Broad Institute 9 1 6 0 0 0 16
Mendelics 5 0 2 2 5 0 14
Phosphorus, Inc. 0 0 10 1 2 0 13
GenomeConnect, ClinGen 0 0 0 0 0 13 13
Division of Genomic Diagnostics,The 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
Baylor Genetics 4 1 4 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 5 2 0 0 7
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 5 2 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
Institute of Human Genetics,University of Wuerzburg 3 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 0 5
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Undiagnosed Diseases Network,NIH 1 1 0 1 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 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
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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 0 1 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 0 0 1 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

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