ClinVar Miner

Variants with conflicting interpretations studied for Combined oxidative phosphorylation deficiency 14

Coded as:
Minimum review status of the submission for Combined oxidative phosphorylation deficiency 14: Y axis collection method of the submission for Combined oxidative phosphorylation deficiency 14:
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
66 10 0 10 6 1 9 22

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
Combined oxidative phosphorylation deficiency 14 pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 5 1 0 0 0
likely pathogenic 4 0 1 0 0 0
uncertain significance 3 8 0 5 1 1
likely benign 0 0 4 0 3 0
benign 0 0 1 5 0 0

Condition to condition summary #

Total conditions: 201
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 2 0 2 3 0 8 11
Combined oxidative phosphorylation deficiency 14 79 9 0 7 3 0 1 10
not specified 0 8 0 5 2 0 0 7
Spastic paraplegia 77, autosomal recessive 0 0 0 1 0 0 2 2
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
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal aortic valve physiology 0 0 0 0 0 0 1 1
Abnormal mitral valve physiology 0 0 0 0 0 0 1 1
Abnormality of esophagus morphology 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
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
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
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
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
CHARGE association 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 0 0 0 1 1
Ceroid lipofuscinosis neuronal 1 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
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 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 9q deletion syndrome 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 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
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
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 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
Early infantile epileptic encephalopathy 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
Ethylmalonic encephalopathy 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 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
Fumarase deficiency 0 0 0 0 0 0 1 1
Glioma 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 0 0 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; Seizures; Intellectual disability 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 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
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inborn genetic diseases 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
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; Oral-facial-digital syndrome 0 0 0 0 0 0 1 1
Juvenile neuronal ceroid lipofuscinosis 0 0 0 0 0 0 1 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Kilquist Syndrome 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
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
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
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 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
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
Mitochondrial encephalomyopathy; Global developmental delay 0 0 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 exostoses type 2 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
Osler hemorrhagic telangiectasia syndrome 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
Parkinson disease 2 0 0 0 0 0 0 1 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 syndrome 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
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 ciliary dyskinesia 0 0 0 0 0 0 1 1
Progressive intrahepatic cholestasis 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
RHD DEL 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
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
See cases 0 0 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
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, 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
Stargardt disease 1 0 0 0 0 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
Tetralogy of Fallot 0 0 0 0 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Treacher Collins syndrome 1 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
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: 22
Download table as spreadsheet
HGVS dbSNP
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met) rs372054960
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369
NM_006567.5(FARS2):c.945A>G (p.Gly315=) rs1057522221
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys) rs142073519
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611
Single allele

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