ClinVar Miner

Variants with conflicting interpretations studied for Thoracic aortic aneurysm and aortic dissection

Coded as:
Minimum review status of the submission for Thoracic aortic aneurysm and aortic dissection: Y axis collection method of the submission for Thoracic aortic aneurysm and aortic dissection:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
569 777 0 318 254 4 44 543

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Thoracic aortic aneurysm and aortic dissection pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 0 16 5 1 1 1 1 1
likely pathogenic 26 0 19 4 1 1 1 0
uncertain significance 5 20 0 165 56 1 1 2
likely benign 2 1 109 0 212 0 0 0
benign 1 2 39 143 0 0 0 0

Condition to condition summary #

Total conditions: 353
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 278 0 143 161 0 21 302
not specified 0 196 0 194 117 0 7 297
Cardiovascular phenotype 0 208 0 134 74 0 8 205
Thoracic aortic aneurysm and aortic dissection 1662 89 0 79 60 0 4 138
Marfan syndrome 0 243 0 46 29 0 9 77
Aortic aneurysm, familial thoracic 4 0 34 0 35 25 0 4 56
Connective tissue disorder 0 25 0 23 33 0 2 54
Lissencephaly, Recessive 0 47 0 20 12 0 0 32
Acromicric dysplasia 0 134 0 23 7 0 0 29
Geleophysic dysplasia 0 134 0 23 7 0 0 29
MASS syndrome 0 133 0 22 7 0 1 29
Ectopia lentis 0 134 0 22 7 0 0 28
Stiff skin syndrome 0 134 0 22 7 0 0 28
Weill-Marchesani syndrome 0 134 0 22 7 0 0 28
Loeys-Dietz syndrome 0 317 0 14 11 0 3 27
Aortic aneurysm, familial thoracic 7 0 19 0 21 3 0 1 25
Ehlers-Danlos syndrome, type 4 0 29 0 13 11 0 0 20
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 42 0 9 6 0 2 16
Aortic aneurysm, familial thoracic 6 0 4 0 5 1 0 2 8
Familial aortopathy 0 1 0 8 0 0 0 8
Arterial tortuosity syndrome 0 1 0 4 2 0 1 6
Adams-Oliver syndrome 5 0 12 0 3 2 0 1 5
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 4 0 2 3 0 0 5
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 4 0 4 0 0 0 4
Moyamoya disease 0 18 0 1 3 0 0 4
Multisystemic smooth muscle dysfunction syndrome 0 19 0 1 3 0 0 4
Hereditary cancer-predisposing syndrome 0 2 0 3 0 0 1 3
Hereditary hemorrhagic telangiectasia type 1 0 1 0 2 1 0 1 3
Inborn genetic diseases 0 0 0 0 3 0 0 3
Loeys-Dietz syndrome 4 0 2 0 3 1 0 1 3
Multiple self healing squamous epithelioma 0 0 0 0 0 3 0 3
Osteogenesis imperfecta type I 0 0 0 1 0 0 3 3
Aortic aneurysm, familial thoracic 10 0 0 0 2 0 0 0 2
Autoimmune lymphoproliferative syndrome 0 6 0 2 0 0 0 2
Congenital aneurysm of ascending aorta 0 0 0 1 1 0 0 2
Congenital contractural arachnodactyly 0 2 0 0 1 0 1 2
Ehlers-Danlos syndrome, classic type 0 3 0 1 0 0 1 2
Familial colorectal cancer 0 0 0 0 0 0 2 2
Familial thoracic aortic aneurysm; Acute aortic dissection 0 2 0 2 0 0 0 2
Juvenile Polyposis 0 1 0 1 1 0 0 2
Juvenile polyposis syndrome 0 1 0 1 1 0 1 2
Loeys-Dietz syndrome 1 0 112 0 1 1 0 0 2
Loeys-Dietz syndrome 3 0 9 0 2 0 0 0 2
Myhre syndrome 0 1 0 1 1 0 0 2
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 1 0 0 1 1
1p13.3 deletion syndrome 0 0 0 1 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 1 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 0 0 1 1
ACTA2-Related Disorders 0 0 0 1 0 0 0 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 1 0 0 1 1
Abnormality of esophagus morphology 0 0 0 1 0 0 1 1
Abnormality of the eye 0 0 0 1 0 0 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 1 0 0 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 0 0 1 1
Anomalous pulmonary venous return 0 0 0 0 0 0 1 1
Aortic aneurysm 0 1 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 0 1 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic behavior; Absent speech 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 1 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 1 0 0 1 1
Barakat syndrome 0 0 0 1 0 0 1 1
Bardet-Biedl syndrome 0 0 0 1 0 0 1 1
Becker muscular dystrophy 0 0 0 1 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 1 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 1 0 0 1 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 1 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 1 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 1 1
Brain malformations and urinary tract defects 0 0 0 1 0 0 1 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 1 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 1 0 0 1 1
Cardiomyopathy 0 0 0 0 1 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 1 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 1 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 1 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 1 1
Citrullinemia type I 0 0 0 1 0 0 1 1
Cleidocranial dysostosis 0 0 0 1 0 0 1 1
Cohen syndrome 0 0 0 1 0 0 1 1
Collagen VI-related myopathy 0 0 0 0 1 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 1 1
Cone monochromatism 0 0 0 1 0 0 1 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 1 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 1 0 0 1 1
Currarino triad 0 0 0 1 0 0 1 1
Cystic fibrosis 0 0 0 1 0 0 1 1
Cystinuria 0 0 0 1 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 1 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 1 0 0 1 1
Deep venous thrombosis 0 0 0 1 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 1 0 0 1 1
Dent disease 1 0 0 0 1 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 1 0 0 1 1
DiGeorge sequence 0 0 0 1 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 1 0 0 1 1
Dilatation of ascending aorta; Dilatation 0 0 0 0 1 0 0 1
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 1 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Dystonia 0 0 0 1 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 1 0 0 1 1
Ehlers-Danlos syndrome 0 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 7A 0 1 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Epilepsy 0 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 0 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 1 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 1 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 1 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 1 0 0 1 1
Factor X deficiency 0 0 0 1 0 0 1 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 1 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 1 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Familial hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 0 1 1
Familial thoracic aortic aneurysm 0 0 0 0 1 0 0 1
Fanconi anemia 0 0 0 1 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 1 1
Focal seizures 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 1 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 1 1
Glioma 0 0 0 1 0 0 1 1
Global developmental delay 0 0 0 1 1 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 1 0 0 1 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 1 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Glycogen storage disease, type II 0 0 0 1 0 0 1 1
Gorlin syndrome 0 0 0 1 0 0 1 1
Griscelli syndrome type 2 0 0 0 1 0 0 1 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 1 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 1 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 1 1
Hereditary factor XI deficiency disease 0 0 0 1 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary nonpolyposis colorectal cancer type 6 0 1 0 0 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Holt-Oram syndrome 0 1 0 0 1 0 0 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 1 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 0 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Immunodeficiency 23 0 0 0 1 0 0 1 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 0 1 1
Infantile cortical hyperostosis 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 1 1
Intellectual disability 0 0 0 1 0 0 1 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 1 1
Internal malformations 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 1 0 0 1 1
Jeune thoracic dystrophy 0 0 0 1 0 0 1 1
Joubert syndrome 0 0 0 1 0 0 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Joubert syndrome; Orofaciodigital syndrome I 0 0 0 1 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 1 1
Kallmann syndrome 1 0 0 0 0 0 0 1 1
Keratoconus 0 0 0 0 0 0 1 1
Kidney Disease; Tooth agenesis 0 0 0 0 0 0 1 1
Kilquist Syndrome 0 0 0 1 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 0 1 1
Leber congenital amaurosis 0 0 0 1 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 1 1
Leptin receptor deficiency 0 0 0 1 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 1 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 1 1
Loeys-Dietz syndrome 2 0 7 0 1 0 0 0 1
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 0 1 1
Lowe syndrome 0 0 0 1 0 0 1 1
Lung cancer 0 0 0 1 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 1 1
MECP2 duplication syndrome 0 0 0 1 0 0 1 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 1 1
Majeed syndrome 0 0 0 1 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Marfanoid habitus 0 0 0 0 1 0 0 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 0 1 1
Mental retardation, autosomal dominant 26 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 1 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 1 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mirror movements 1 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 1 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1 1
Multiple exostoses type 2 0 0 0 1 0 0 1 1
Myoclonic dystonia 0 0 0 1 0 0 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 1 0 1 1
Myosclerosis 0 0 0 0 1 0 1 1
Myosin storage myopathy 0 0 0 0 1 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 1 1
Neoplasm of the breast 0 0 0 1 0 0 1 1
Nephronophthisis 0 0 0 0 1 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 1 0 0 1 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 1 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 1 0 1 1
Optic nerve hypoplasia 0 0 0 1 0 0 1 1
Osteogenesis Imperfecta, Dominant 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 1 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 1 1
Paris-Trousseau thrombocytopenia 0 0 0 1 0 0 1 1
Parkinson disease 2 0 0 0 1 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 1 0 0 1 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 1 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 1 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 1 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 1 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 1 0 0 1 1
Prader-Willi syndrome 0 0 0 1 0 0 1 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 1 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 1 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 1 0 0 1 1
Pulmonary arterial hypertension 0 0 0 1 0 0 1 1
RHD DEL 0 0 0 1 0 0 1 1
Reduced antithrombin III activity 0 0 0 1 0 0 1 1
Reduced protein S activity 0 0 0 1 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 1 1
Renal transitional cell carcinoma 0 0 0 1 0 0 1 1
Retinal dystrophy 0 0 0 1 0 0 1 1
Retinitis pigmentosa 0 0 0 1 0 0 1 1
RhD negative 0 0 0 1 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 1 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 1 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 1 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 1 1
Schizophrenia 0 0 0 1 0 0 1 1
Schizophrenia 17 0 0 0 1 0 0 1 1
See cases 0 0 0 1 0 0 1 1
Seizures 0 0 0 1 0 0 1 1
Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 1 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 1 1
Skeletal dysplasia 0 0 0 1 0 0 1 1
Spastic paraplegia 0 0 0 1 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 1 0 0 1 1
Spherocytosis type 2 0 0 0 1 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 1 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 1 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 1 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 0 1 1
Split-hand/foot malformation 0 0 0 1 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 1 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 1 1
Stargardt disease 1 0 0 0 1 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 1 1
Treacher Collins syndrome 1 0 0 0 1 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 1 0 0 1 1
Tuberous sclerosis 2 0 0 0 1 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 0 1 1
Usher syndrome 0 0 0 1 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 1 0 0 1 1
Visceral myopathy 0 0 0 1 0 0 1 1
Vitamin B2 deficiency 0 0 0 1 0 0 1 1
Wilson disease 0 0 0 1 0 0 1 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 543
Download table as spreadsheet
HGVS dbSNP
MYH11:c.503-14_503-12del rs141564071
NM_000043.6(FAS):c.-34A>G rs5030766
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3202-14del rs767971610
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3525+19del rs138061246
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.799-6del rs767927599
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2547C>G (p.Ile849Met) rs778258207
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2729-9del rs35314876
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) rs375402043
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.539-15del rs193922211
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6038-15_6038-14delAT rs752198920
NM_000138.4(FBN1):c.6038-8T>A rs569460847
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6163+2dup rs794728315
NM_000138.4(FBN1):c.6164-3C>T rs571365493
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6837G>A (p.Gly2279=) rs140584234
NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) rs770443276
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.7559C>T (p.Thr2520Met) rs763759308
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) rs193922244
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.585G>A (p.Glu195=) rs550789732
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001141945.2(ACTA2):c.-24+157C>T rs2274355
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.78C>T (p.Asp26=) rs141538225
NM_001613.4(ACTA2):c.808+14G>A rs774120023
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002474.3(MYH11):c.*5C>G rs1875184
NM_002474.3(MYH11):c.-17-13C>T rs545560860
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189
NM_002474.3(MYH11):c.1032A>G (p.Leu344=) rs112474866
NM_002474.3(MYH11):c.1034-12T>G rs184847335
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815
NM_002474.3(MYH11):c.1249-11G>C rs2280764
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554
NM_002474.3(MYH11):c.1776G>A (p.Leu592=) rs1239338323
NM_002474.3(MYH11):c.1848C>T (p.Ala616=) rs112834652
NM_002474.3(MYH11):c.1863C>T (p.Asp621=) rs200158182
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.2010C>T (p.Asn670=) rs774336703
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100
NM_002474.3(MYH11):c.2058+10G>A rs757874059
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799
NM_002474.3(MYH11):c.2412-9C>A rs148682361
NM_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522
NM_002474.3(MYH11):c.3228G>A (p.Ala1076=) rs773672888
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_002474.3(MYH11):c.3293+6G>A rs370658839
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3652-6C>T rs193922630
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494
NM_002474.3(MYH11):c.3757_3759AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.3858+874G>A rs73519694
NM_002474.3(MYH11):c.3859-172T>G rs760024
NM_002474.3(MYH11):c.3859-206C>T rs760023
NM_002474.3(MYH11):c.3859-479C>T rs74009414
NM_002474.3(MYH11):c.3859-558T>C rs16967500
NM_002474.3(MYH11):c.3859-648C>T rs11557090
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.3(MYH11):c.4116+12G>A rs193005461
NM_002474.3(MYH11):c.4117-44C>T rs11130
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=) rs143588920
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002474.3(MYH11):c.4579-13G>A rs181115969
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.3(MYH11):c.4791+4C>T rs142108062
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.503-9T>C rs554607161
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.3(MYH11):c.5172-13G>A rs373378619
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002474.3(MYH11):c.5172-5C>T rs574893374
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys) rs772663756
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469
NM_002474.3(MYH11):c.540T>C (p.Ser180=) rs182700462
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.3(MYH11):c.546C>T (p.Ala182=) rs113577450
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.3(MYH11):c.5504+6C>A rs371348553
NM_002474.3(MYH11):c.5504+8G>C rs148691719
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) rs542765381
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) rs760286479
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5786+11C>T rs374454501
NM_002474.3(MYH11):c.5787-4707C>A rs111588143
NM_002474.3(MYH11):c.5787-4707C>G rs111588143
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4727C>T rs745371874
NM_002474.3(MYH11):c.5787-4733CT[2] rs747642850
NM_002474.3(MYH11):c.5787-4733CT[3] rs747642850
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) rs140789717
NM_002474.3(MYH11):c.720A>T (p.Ser240=) rs143160789
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002474.3(MYH11):c.939C>G (p.Gly313=) rs773165722
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_003239.4(TGFB3):c.*9G>A rs4252346
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.324C>T (p.Phe108=) rs779502039
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003243.5(TGFBR3):c.55A>G (p.Thr19Ala) rs147586574
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) rs768713596
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.4(SMAD3):c.607+9T>A rs886051380
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.*1809A>G rs6438804
NM_053025.4(MYLK):c.-197T>C rs528654061
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417
NM_053025.4(MYLK):c.1651+6T>A rs820329
NM_053025.4(MYLK):c.1804+8C>T rs820355
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.4(MYLK):c.3193_3195GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.4(MYLK):c.3448+15G>A rs199789942
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.4(MYLK):c.3652+11G>A rs41271437
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.4(MYLK):c.3832-6C>T rs185681684
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.4(MYLK):c.423-8C>T rs751696363
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-13del rs779252356
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.4(MYLK):c.4415+9A>G rs187964526
NM_053025.4(MYLK):c.4620-12G>A rs41301337
NM_053025.4(MYLK):c.4620-4G>A rs371533014
NM_053025.4(MYLK):c.4620-6C>T rs113607507
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.4(MYLK):c.5114+7A>G rs1553774672
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347
Single allele

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