ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial complex I deficiency

Coded as:
Minimum review status of the submission for Mitochondrial complex I deficiency: Y axis collection method of the submission for Mitochondrial complex I deficiency:
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
221 161 0 45 80 1 9 128

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
Mitochondrial complex I deficiency pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 0 2 0 0 0 0 0 0
likely pathogenic 6 0 4 0 0 0 0 0
uncertain significance 1 5 0 48 45 1 1 1
likely benign 0 0 1 0 32 0 0 0
benign 0 0 1 6 0 0 0 0

Condition to condition summary #

Total conditions: 279
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 20 0 30 53 0 7 87
not specified 0 11 0 23 58 0 0 81
Deficiency of guanidinoacetate methyltransferase 0 3 0 4 0 0 0 4
Inborn genetic diseases 0 0 0 3 0 0 1 4
History of neurodevelopmental disorder 0 0 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 1 0 3 0 1 0 0 1 2
Osteopetrosis 0 0 0 1 1 0 0 2
11q partial monosomy syndrome 0 0 0 0 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 0 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 0 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 0 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 0 0 0 1 1
Abnormality of the eye 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 0 0 0 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 0 0 0 1 1
Autism spectrum disorder 0 0 0 0 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 0 0 0 1 1
Autistic disorder of childhood onset 0 0 0 0 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 0 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 0 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 0 0 0 1 1
Barakat syndrome 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 0 0 1 1
Becker muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 0 0 1
Birt-Hogg-Dubé Syndrome 0 0 0 0 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 0 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 0 0 0 1 1
Brain malformations and urinary tract defects 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 3 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 0 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 1 0 0 1
Cerebral cavernous malformation 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 0 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 0 0 0 1 1
Chromosome 10q22.3-q23.2 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 7 0 0 0 0 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 1
Cleidocranial dysostosis 0 0 0 0 0 0 1 1
Cockayne syndrome 0 2 0 1 0 0 0 1
Cohen syndrome 0 0 0 0 0 0 1 1
Collagen VI-related myopathy 0 0 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 31 0 0 0 0 0 0 1 1
Common variable immunodeficiency 0 0 0 0 0 0 1 1
Cone monochromatism 0 0 0 0 0 0 1 1
Cone/cone-rod dystrophy 0 0 0 0 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 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 0 0 0 1 1
Currarino triad 0 0 0 0 0 0 1 1
Cystic fibrosis 0 0 0 0 0 0 1 1
Cystinuria 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 0 0 0 1 1
Deafness-infertility syndrome 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 0 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 0 0 0 1 1
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 0 0 0 1 1
DiGeorge sequence 0 0 0 0 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Dystonia 0 0 0 0 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 4 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 0 0 0 1 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 0 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 0 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 0 0 0 1 1
Factor X deficiency 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 1 0 0 0 0 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 0 0 0 1 1
Fanconi anemia 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 0 0 0 1 1
Focal seizures 0 0 0 0 0 0 1 1
Fumarase 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 0 0 0 1 1
Glioma 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 0 1 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 0 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 0 0 0 1 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 0 0 0 1 1
Glycogen storage disease, type II 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Griscelli syndrome type 2 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 0 0 0 1 1
Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 0 0 0 1 1
Hereditary factor XI deficiency disease 0 0 0 0 0 0 1 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 0 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 0 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inclusion body myositis; GNE myopathy 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 0 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 0 0 0 1 1
Inherited Immunodeficiency Diseases 0 0 0 0 0 0 1 1
Intellectual disability 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 0 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 0 0 0 1 1
Jeune thoracic dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 0 0 0 0 0 0 1 1
Joubert syndrome; Orofaciodigital syndrome I 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 0 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Kilquist Syndrome 0 0 0 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 0 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
Leigh syndrome 0 208 0 1 0 0 0 1
Leptin receptor deficiency 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 0 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 0 0 1 1
Lowe syndrome 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 0 0 0 0 0 0 1 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 0 0 0 0 1 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 0 0 0 0 1 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 0 0 0 0 1 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 0 1 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 0 0 0 0 1 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 0 1 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 0 0 0 0 1 0 0 1
Macrothrombocytopenia 0 0 0 0 0 0 1 1
Majeed syndrome 0 0 0 0 0 0 1 1
Marfan syndrome 0 0 0 0 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 0 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 505 4 0 1 0 0 0 1
Mowat-Wilson syndrome 0 0 0 0 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 0 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Multiple epiphyseal dysplasia 5 0 0 0 0 0 0 1 1
Multiple exostoses type 2 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 0 0 0 1 1
Myoclonic dystonia 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 1 0 0 1
Myosclerosis 0 0 0 0 1 0 0 1
Myosin storage myopathy 0 0 0 0 1 0 0 1
Nemaline myopathy 6 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 0 0 0 1 1
Nephronophthisis 0 0 0 0 1 0 0 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 0 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 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 0 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 0 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 1
Paris-Trousseau thrombocytopenia 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 0 0 0 1 1
Parkinson disease, mitochondrial 0 0 0 0 1 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 0 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 0 0 0 1 1
Prader-Willi syndrome 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 0 1
Primary ciliary dyskinesia 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 0 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 0 0 0 1 1
Pulmonary arterial hypertension 0 0 0 0 0 0 1 1
RHD DEL 0 0 0 0 0 0 1 1
Reduced antithrombin III activity 0 0 0 0 0 0 1 1
Reduced protein S activity 0 0 0 0 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 0 0 0 1 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 0 0 0 0 0 0 1 1
RhD negative 0 0 0 0 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 0 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 0 0 0 1 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 0 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 0 1
Schizophrenia 0 0 0 0 0 0 1 1
Schizophrenia 17 0 0 0 0 0 0 1 1
Seizures 0 1 0 0 0 0 1 1
Seizures; Intellectual disability 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 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 0 0 0 1 1
Skeletal dysplasia 0 0 0 0 0 0 1 1
Spastic paraplegia 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 0 1
Spastic paraplegia 4, autosomal dominant 0 0 0 0 0 0 1 1
Spherocytosis type 2 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 0 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 0 0 0 1 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 0 0 0 1 1
Split-hand/foot malformation 0 0 0 0 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Stargardt disease 1 0 0 0 0 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Thrombocytopenia 0 0 0 0 0 0 1 1
Treacher Collins syndrome 1 0 0 0 0 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 1
Tuberous sclerosis 2 0 0 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 0 0 0 1 1
Vitamin B2 deficiency 0 0 0 0 0 0 1 1
Wieacker Wolff syndrome 0 0 0 0 0 0 1 1
Wilson disease 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 128
Download table as spreadsheet
HGVS dbSNP
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_001193375.2(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_001193375.2(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.4(NDUFS8):c.502-10C>T rs369961682
NM_002496.4(NDUFS8):c.502-13C>T rs199793417
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.548-9A>G rs147876332
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dup rs776704187
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.3(NDUFS3):c.628-7C>T rs11039306
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.5(NDUFS6):c.*15C>T rs200445799
NM_004553.5(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.5(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.421-7A>G rs192949406
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_007103.4(NDUFV1):c.-45T>G rs373940385
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007103.4(NDUFV1):c.72+15G>T rs187400726
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_017547.4(FOXRED1):c.-31A>G rs368307265
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.5(NDUFV2):c.580-12T>A rs114558512
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.3(NUBPL):c.-13A>G rs754769393
NM_025152.3(NUBPL):c.-1C>T rs45468395
NM_025152.3(NUBPL):c.-7C>T rs201073307
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722
Single allele

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