ClinVar Miner

Variants with conflicting interpretations studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Coded as:
Minimum review status of the submission for Hereditary Paraganglioma-Pheochromocytoma Syndromes: Y axis collection method of the submission for Hereditary Paraganglioma-Pheochromocytoma Syndromes:
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
168 113 8 28 8 3 19 58

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
Hereditary Paraganglioma-Pheochromocytoma Syndromes pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 6 15 7 1 1 0 0 0 2
likely pathogenic 15 0 3 0 0 0 0 0 0
uncertain significance 3 8 2 8 1 1 1 1 0

Condition to condition summary #

Total conditions: 278
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
Hereditary cancer-predisposing syndrome 0 123 4 17 5 0 8 34
not provided 0 20 4 11 1 0 6 21
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 0 20 0 6 0 0 4 10
Pheochromocytoma 0 9 3 2 2 0 3 9
Paragangliomas 4 0 9 0 7 0 0 1 8
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 7 4 1 0 0 1 6
Hereditary Paraganglioma-Pheochromocytoma Syndromes 328 6 3 2 0 0 0 5
Paragangliomas 1 0 2 5 0 0 0 0 5
not specified 0 9 1 0 1 0 3 5
Gastrointestinal stroma tumor 0 1 0 1 0 0 1 2
Pheochromocytoma, susceptibility to 0 1 0 0 0 2 0 2
SDHB-Related Disorders 0 0 0 2 0 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
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
Cowden syndrome 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
Gastrointestinal stroma tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 1 0 0 0 1
Gastrointestinal stroma tumor; Paragangliomas 3 0 3 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 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
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
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 II deficiency 0 0 0 0 0 0 1 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
Paraganglioma and gastric stromal sarcoma 0 2 0 1 0 0 0 1
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma 0 3 0 1 0 0 0 1
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Mitochondrial complex II deficiency; Paragangliomas 1 0 0 1 0 0 0 0 1
Paragangliomas 1 with sensorineural hearing loss 0 0 1 0 0 0 0 1
Paragangliomas 2 0 0 1 0 0 0 0 1
Paris-Trousseau thrombocytopenia 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-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 cell carcinoma, papillary, 1 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 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
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: 58
Download table as spreadsheet
HGVS dbSNP
NM_001035511.2(SDHC):c.424G>A (p.Ala142Thr) rs182629842
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_017841.2(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.2(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
Single allele

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