ClinVar Miner

Variants with conflicting interpretations studied for Early infantile epileptic encephalopathy

Coded as:
Minimum review status of the submission for Early infantile epileptic encephalopathy: Y axis collection method of the submission for Early infantile epileptic encephalopathy:
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
959 199 0 63 70 1 57 178

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
Early infantile epileptic encephalopathy pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 0 30 10 1 2 1 1 1
likely pathogenic 17 0 6 1 1 1 1 1
uncertain significance 21 27 0 55 6 1 1 1
likely benign 0 0 9 0 5 0 0 0
benign 0 0 1 12 0 0 0 0

Condition to condition summary #

Total conditions: 350
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 0 150 0 21 15 0 36 69
not specified 0 47 0 12 41 0 4 56
Seizures 0 15 0 2 7 0 2 10
Severe myoclonic epilepsy in infancy 0 44 0 5 2 0 3 10
History of neurodevelopmental disorder 0 21 0 1 8 0 0 9
Early infantile epileptic encephalopathy 7 0 10 0 3 0 0 4 7
Benign familial neonatal seizures 1 0 9 0 1 0 0 4 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 0 0 0 4 0 0 0 4
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 4 0 4 0 0 0 4
Early infantile epileptic encephalopathy 4 0 9 0 4 0 0 1 4
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 7 0 3 0 0 0 3
Early infantile epileptic encephalopathy 13 0 4 0 1 0 0 2 3
Early infantile epileptic encephalopathy 5 0 3 0 0 2 0 1 3
Epilepsy 0 2 0 3 0 0 1 3
Epileptic encephalopathy 0 6 0 3 0 0 1 3
Inborn genetic diseases 0 6 0 1 0 0 2 3
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 3 0 2 0 0 0 2
Early infantile epileptic encephalopathy 17 0 1 0 2 0 0 0 2
Early infantile epileptic encephalopathy 55 0 0 0 0 0 0 2 2
Early myoclonic encephalopathy 0 2 0 1 0 0 1 2
Familial hemiplegic migraine 0 1 0 2 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 6 0 1 0 0 1 2
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16p13.2-p13.13 microduplication 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
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 movement 0 0 0 1 0 0 0 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
Adams-Oliver syndrome 5 0 0 0 1 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, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Arthrogryphosis 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; Neurodegeneration; Photosensitive tonic-clonic seizures; Intellectual disability, severe 0 0 0 0 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
Birt-Hogg-Dubé Syndrome 0 0 0 1 0 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
Breast-ovarian cancer, familial 3 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 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
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 1 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 10q22.3-q23.2 deletion syndrome 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
Ciliary dyskinesia, primary, 7 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
Common variable immunodeficiency 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 contractural arachnodactyly 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 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
Deafness-infertility syndrome 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
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 1327 8 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4; Cerebellar vermis hypoplasia 0 0 0 1 0 0 0 1
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Encephalopathy 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, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 1 1
Epileptic encephalopathy, early infantile, 24 0 1 0 0 1 0 0 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 colorectal cancer 0 0 0 0 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
Fanconi anemia 0 0 0 1 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 1 1
Focal epilepsy 0 1 0 1 0 0 0 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; Absent speech; Limb dystonia 0 0 0 1 0 0 0 1
Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizures 0 0 0 0 0 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 cancer-predisposing 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 hemorrhagic telangiectasia type 1 0 0 0 1 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 1 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
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 nephronophthisis 0 0 0 1 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 1 1
Inherited Immunodeficiency Diseases 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
Juvenile polyposis syndrome 0 0 0 1 0 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
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 1 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
Marfan syndrome 0 0 0 1 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 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 epiphyseal dysplasia 5 0 0 0 1 0 0 1 1
Multiple exostoses type 2 0 0 0 1 0 0 1 1
Muscle dystrophy 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 type 10 0 0 0 1 0 0 1 1
Osteogenesis imperfecta type I 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 1 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
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 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
Rolandic epilepsy 0 0 0 0 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
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
Severe intellectual deficiency 0 0 0 1 0 0 0 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, X-linked 0 0 0 0 0 1 0 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
Thoracic aortic aneurysm and aortic dissection 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
Wieacker Wolff syndrome 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
developmental delay with seizures 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 178
Download table as spreadsheet
HGVS dbSNP
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912
NM_001174051.3(CACNA2D2):c.782C>T (p.Pro261Leu) rs1211603072
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080
NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=) rs368807589
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242
NM_001191061.2(SLC25A22):c.742+9A>G rs370309722
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=) rs764930724
NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=) rs1057522422
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[3] (p.616_618GYS[3])
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=) rs1057522020
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)
NM_002080.4(GOT2):c.618_620TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)
NM_003165.4(STXBP1):c.1111-2A>G rs1554778417
NM_003165.4(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_003165.4(STXBP1):c.1789G>A (p.Asp597Asn) rs749807465
NM_003165.4(STXBP1):c.326-1G>T rs1554776948
NM_003165.4(STXBP1):c.38-3T>C rs138763389
NM_003165.4(STXBP1):c.430-9C>T rs748770943
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_006920.6(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_006920.6(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_006920.6(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_006920.6(SCN1A):c.1818T>C (p.Asp606=) rs727504141
NM_006920.6(SCN1A):c.2011-5del rs549232924
NM_006920.6(SCN1A):c.2317_2318del (p.Phe773fs) rs1553543215
NM_006920.6(SCN1A):c.2383-4T>G rs398123587
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2557C>T (p.Leu853=) rs140035595
NM_006920.6(SCN1A):c.2561G>A (p.Arg854Gln) rs1057517862
NM_006920.6(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.6(SCN1A):c.2632G>A (p.Ala878Thr) rs1266877537
NM_006920.6(SCN1A):c.265-4A>G rs776470979
NM_006920.6(SCN1A):c.2696A>G (p.Gln899Arg) rs1064795735
NM_006920.6(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.6(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.2786C>T (p.Ser929Phe) rs1057521080
NM_006920.6(SCN1A):c.2806G>A (p.Val936Met) rs796052986
NM_006920.6(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_006920.6(SCN1A):c.3027C>A (p.His1009Gln) rs150154265
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.3743T>C (p.Phe1248Ser) rs398123591
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4288G>A (p.Ala1430Thr) rs121917974
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.5088T>A (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5098G>A (p.Gly1700Ser) rs796053098
NM_006920.6(SCN1A):c.5599_5601delinsAAT (p.Glu1867Asn)
NM_006920.6(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446
NM_006920.6(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_006920.6(SCN1A):c.602+2dup rs796053054
NM_006920.6(SCN1A):c.965-1G>A rs794726824
NM_016430.3(PIGP):c.306del (p.Glu103fs) rs778481061
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) rs56164833
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del) rs748849525
NM_021072.4(HCN1):c.203_205GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) rs370113959
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_153681.2(PIGP):c.74T>C (p.Met25Thr) rs768633670
NM_172107.3(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.3(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.2072G>A (p.Arg691His) rs773194884
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_174963.5(ST3GAL3):c.1099-9G>A rs80055718
Single allele

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