ClinVar Miner

Variants in gene TTN

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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
262 758 7726 3664 1086 121 11300

Condition and significance breakdown #

Total conditions: 63
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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 23 145 3079 1275 645 0 5167
not specified 0 2 2189 2543 935 2 4984
not provided 199 254 3254 225 79 108 3921
Cardiovascular phenotype 1 62 535 337 325 0 1260
Distal myopathy Markesbery-Griggs type 13 32 713 231 3 3 994
Hereditary myopathy with early respiratory failure 12 31 703 230 1 0 977
Myopathy, early-onset, with fatal cardiomyopathy 7 29 708 230 0 0 974
Hypertrophic cardiomyopathy 0 0 704 230 0 0 934
Dilated Cardiomyopathy, Dominant 0 0 703 230 0 0 933
Limb-Girdle Muscular Dystrophy, Recessive 0 0 703 230 0 0 933
Cardiomyopathy 9 18 293 136 167 2 625
Primary dilated cardiomyopathy 4 223 69 0 0 0 292
Dilated cardiomyopathy 1G 17 113 17 0 2 0 149
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 4 1 130 0 0 2 137
Limb-girdle muscular dystrophy, type 2J 9 39 24 0 2 0 74
Familial hypertrophic cardiomyopathy 9 4 33 4 0 0 0 41
Inborn genetic diseases 2 2 20 0 0 0 24
Primary familial hypertrophic cardiomyopathy 0 0 17 4 0 0 21
Dilated cardiomyopathy 1S 0 7 13 0 0 0 20
TTN-Related Disorders 1 0 18 0 0 1 20
Muscular Diseases 4 1 4 0 0 0 9
Left ventricular noncompaction cardiomyopathy 0 2 5 0 0 0 7
Familial dilated cardiomyopathy 5 0 0 0 0 0 5
Abnormality of neuronal migration 0 0 0 0 4 0 4
Arrhythmogenic right ventricular cardiomyopathy 0 0 4 0 0 0 4
Autosomal recessive centronuclear myopathy 0 4 0 0 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
Congenital muscular dystrophy 0 3 0 0 0 0 3
Dilated cardiomyopathy 0 1 2 0 0 0 3
Bilateral talipes equinovarus; Restrictive deficit on pulmonary function testing; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis 0 0 2 0 0 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
Wolff-Parkinson-White pattern 0 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 0 0 0 1
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement 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
Congenital myopathy 0 1 0 0 0 0 1
Diastolic dysfunction 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Familial hypertrophic cardiomyopathy 9 1 0 0 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; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Familial hypertrophic cardiomyopathy 9 0 0 0 0 0 1 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; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1 0 0 0 1 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; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure 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
Lower limb muscle weakness 1 0 0 0 0 0 1
Muscular Diseases; Rimmed vacuoles; Lower limb muscle weakness 0 1 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
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
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
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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 235 3079 1275 645 0 5265
GeneDx 183 144 992 1746 793 108 3966
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 73 2660 296 281 0 3317
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 104 1307 831 510 2 2758
Ambry Genetics 3 64 550 337 325 0 1279
Illumina Clinical Services Laboratory,Illumina 0 0 718 230 1 0 948
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 362 175 218 0 755
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 9 18 291 136 167 0 621
Athena Diagnostics Inc 2 4 242 51 152 0 451
Genetic Services Laboratory, University of Chicago 8 1 134 151 129 0 423
PreventionGenetics 0 0 0 64 221 0 285
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 101 64 0 0 0 162
Fulgent Genetics 1 0 123 0 0 0 124
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 78 3 0 0 90
Blueprint Genetics, 0 30 34 9 0 0 73
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 47 11 10 0 71
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 16 26 0 0 0 42
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 15 5 2 2 1 0 25
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 8 15 1 0 0 24
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 5 11 0 0 0 18
Center for Genetic Medicine Research,Children's National Medical Center 0 5 12 0 0 0 17
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
Phosphorus, Inc. 0 0 10 1 2 0 13
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 11 0 1 0 12
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Baylor Miraca Genetics Laboratories, 4 1 4 0 0 0 9
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 8 1 0 0 0 9
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
Broad Institute Rare Disease Group,Broad Institute 1 0 4 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 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
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
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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Clinical Research Group,BGI genomics 0 1 0 0 0 0 1

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