ClinVar Miner

Variants with conflicting interpretations studied for Seizures

Coded as:
Minimum review status of the submission for Seizures: Y axis collection method of the submission for Seizures:
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
341 403 7 469 271 4 46 653

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
Seizures pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 7 13 7 0 1 0 0 0 0
likely pathogenic 11 0 5 1 1 1 1 1 0
uncertain significance 10 12 0 62 25 0 0 0 0
likely benign 9 0 164 0 254 0 0 0 0
benign 6 1 34 192 0 0 0 2 1

Condition to condition summary #

Total conditions: 347
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 0 483 0 269 158 0 19 406
not specified 0 256 0 299 63 0 4 362
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 3 0 12 14 0 0 26
Progressive sclerosing poliodystrophy 0 33 0 11 7 0 5 22
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 8 0 14 5 0 0 19
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 6 0 11 8 0 0 19
Rolandic epilepsy 0 1 0 0 0 0 13 13
Neuronal Ceroid-Lipofuscinosis, Recessive 0 8 0 4 8 0 0 12
Early infantile epileptic encephalopathy 0 15 0 2 7 0 2 10
Progressive myoclonus epilepsy with ataxia 0 9 0 5 5 0 0 10
Epilepsy, familial focal, with variable foci 1 0 20 0 1 6 0 2 9
KCNQ2-Related Disorders 0 12 0 9 0 0 0 9
Benign familial neonatal seizures 0 8 0 6 3 0 0 8
Generalized epilepsy with febrile seizures plus 0 5 0 5 3 0 0 8
Myoclonic epilepsy, familial infantile 0 1 0 3 5 0 0 8
POLG-Related Spectrum Disorders 0 7 0 4 4 0 0 8
Pyridoxine-dependent epilepsy 0 5 0 6 3 0 0 8
Progressive myoclonic epilepsy 0 14 0 3 4 0 0 7
Benign Neonatal Epilepsy 0 7 0 6 0 0 0 6
Autosomal dominant nocturnal frontal lobe epilepsy 0 9 0 0 4 0 1 5
Frontotemporal dementia 0 3 0 5 0 0 0 5
Neuronal ceroid lipofuscinosis 0 33 0 2 2 0 1 5
Severe myoclonic epilepsy in infancy 0 6 0 2 3 0 0 5
Benign familial neonatal seizures 2 0 1 0 2 1 0 2 4
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 0 5 0 0 4 0 0 4
Epilepsy, nocturnal frontal lobe, type 1 0 4 1 1 3 0 0 4
Epileptic encephalopathy, early infantile, 30 0 6 0 2 2 0 0 4
Fanconi anemia 0 0 0 4 0 0 1 4
Benign familial neonatal seizures 1 0 6 0 1 1 0 1 3
Brugada syndrome 0 1 0 3 0 0 0 3
Cardiac conduction defect, nonspecific 0 1 0 3 0 0 0 3
Ceroid lipofuscinosis neuronal 10 0 3 0 3 0 0 0 3
Early infantile epileptic encephalopathy 12 0 6 0 1 2 0 0 3
Early infantile epileptic encephalopathy 7 0 3 0 2 0 0 1 3
Frontotemporal dementia, ubiquitin-positive 0 4 0 3 0 0 0 3
Lafora disease 0 6 0 2 2 0 0 3
Pyridoxal 5'-phosphate-dependent epilepsy 0 2 0 3 0 0 0 3
Brugada syndrome 5 0 3 0 1 1 0 0 2
Cerebellar ataxia infantile with progressive external ophthalmoplegia 0 3 2 0 0 0 0 2
Ceroid lipofuscinosis neuronal 5 0 4 0 2 0 0 0 2
Ceroid lipofuscinosis neuronal 7 0 5 0 1 1 0 0 2
Early infantile epileptic encephalopathy 5 0 3 0 0 2 0 0 2
Epilepsy, progressive myoclonic 7 0 2 0 0 2 0 0 2
Familial temporal lobe epilepsy 1 0 0 0 0 2 0 0 2
Juvenile myoclonic epilepsy 0 0 0 1 1 0 0 2
Long QT syndrome 0 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0 1 2 1 0 0 0 2
Mitochondrial diseases 0 8 0 1 1 0 0 2
Nicotine addiction, protection against 0 0 0 0 0 2 0 2
PTEN hamartoma tumor syndrome 0 0 0 1 1 0 0 2
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 7 0 1 1 0 0 2
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 7 0 1 1 0 0 2
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 4 0 1 0 0 1 2
16p13.2-p13.13 microduplication syndrome 0 0 0 1 0 0 0 1
16q24.3 microdeletion syndrome 0 0 0 1 0 0 0 1
1q21.1 recurrent microdeletion 0 0 0 1 0 0 0 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 0 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 1 0 0 0 1
Abnormal bleeding 0 0 0 0 0 0 1 1
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 1 0 0 0 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
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 disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 0 1
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 0 3 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 0 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 0 0 0 1 0 0 0 1
Barakat syndrome 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 0 0 0 1 0 0 0 1
Becker muscular dystrophy 0 0 0 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 1 0 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 1 0 0 0 1
Beckwith-Wiedemann syndrome 0 0 0 1 0 0 0 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
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 2 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 0 0 1 1
Birt-Hogg-Dubé Syndrome 0 0 0 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 1 0 0 0 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 1 0 0 0 1
Brain malformations and urinary tract defects 0 0 0 1 0 0 0 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 0 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 1 0 0 1 1
Camptocormia 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 1
Cerebral folate deficiency 0 0 0 0 0 0 1 1
Ceroid lipofuscinosis neuronal 6 0 4 1 0 0 0 0 1
Ceroid lipofuscinosis neuronal 7; Macular dystrophy with central cone involvement 0 0 0 0 1 0 0 1
Ceroid lipofuscinosis neuronal 8 0 2 0 0 1 0 1 1
Charcot-Marie-Tooth disease 0 0 0 0 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; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type IA 0 0 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 1 0 0 0 1
Chorioretinal atrophy, progressive bifocal 0 0 0 1 0 0 0 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 1 0 0 0 1
Chromosome 10q22.3-q23.2 deletion syndrome 0 0 0 1 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome 17p13.1 deletion syndrome 0 0 0 1 0 0 0 1
Chromosome 17q12 duplication syndrome 0 0 0 1 0 0 0 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 28 0 0 0 1 0 0 0 1
Citrullinemia type I 0 0 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 0 1 0 0 0 1
Cohen syndrome 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 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 0 1
Common variable immunodeficiency 0 0 0 1 0 0 0 1
Cone monochromatism 0 0 0 1 0 0 0 1
Congenital Indifference to Pain 0 0 0 0 1 0 0 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 0 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 0 0 1 0 0 0 1
Cystic fibrosis 0 0 0 1 0 0 0 1
DOORS syndrome 0 0 0 0 0 0 1 1
DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65 0 2 0 0 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal dominant 65 0 0 0 0 1 0 0 1
Deafness, autosomal recessive 16 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 1A 0 0 0 1 0 0 0 1
Deafness-infertility syndrome 0 0 0 1 0 0 0 1
Deletion of long arm of chromosome 18 0 0 0 1 0 0 0 1
Dent disease 1 0 0 0 1 0 0 0 1
Developmental Split Brain Syndrome 0 0 0 1 0 0 0 1
DiGeorge sequence 0 0 0 1 0 0 0 1
Dihydropteridine reductase deficiency 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 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 0 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 14 0 2 0 0 1 0 0 1
Early infantile epileptic encephalopathy 16 0 0 0 0 1 0 0 1
Early infantile epileptic encephalopathy 4 0 0 0 1 0 0 0 1
Early myoclonic encephalopathy 0 0 0 0 1 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 0 1 0 1 0 0 1 1
Epilepsy, childhood absence 5 0 0 0 0 1 1 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 1
Epilepsy, nocturnal frontal lobe, 5 0 0 0 0 1 0 0 1
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 0 0 0 1 0 0 1
Epilepsy, nocturnal frontal lobe, type 3 0 1 0 0 1 0 0 1
Epilepsy, nocturnal frontal lobe, type 4 0 1 0 0 1 0 0 1
Epilepsy, progressive myoclonic 3 0 4 0 0 0 0 1 1
Epilepsy, progressive myoclonic 4, with or without renal failure 0 1 0 0 1 0 0 1
Epilepsy, progressive myoclonic 6 0 0 0 1 0 0 0 1
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 0 6 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 33 0 1 0 1 0 0 0 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 1 0 0 0 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 1 0 0 0 1
Exudative vitreoretinopathy 1 0 0 0 1 0 0 0 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 0 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 0 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 febrile seizures 0 0 0 0 1 0 0 1
Familial hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Fumarase deficiency 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 0 1 0 1 0 0 0 1
Generalized tonic-clonic seizures 0 0 0 0 1 0 0 1
Global developmental delay 0 2 0 1 0 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 0 0 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Glycogen storage disease, type II 0 0 0 1 0 0 0 1
Gorlin syndrome 0 0 0 1 0 0 0 1
Griscelli syndrome type 2 0 0 0 1 0 0 0 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 1 0 0 0 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 0 1
Hereditary cancer-predisposing syndrome 0 3 0 1 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 1 0 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 1 0 0 0 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 1 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 0 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 0 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 1 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 1 0 0 0 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 0 1
Inclusion body myositis; GNE myopathy 0 0 0 1 0 0 0 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 0 1
Inherited Erythromelalgia 0 0 0 0 1 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 0 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 0 1
Jeune thoracic dystrophy 0 0 0 1 0 0 0 1
Joubert syndrome 0 0 0 1 0 0 0 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 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 0 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 0 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 0 0 1 1
Leptin receptor deficiency 0 0 0 1 0 0 0 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 1 0 0 0 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 0 1
Lowe syndrome 0 0 0 1 0 0 0 1
Lung cancer 0 0 0 1 0 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 0 1
MECP2 duplication syndrome 0 0 0 1 0 0 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 0 1
Macular dystrophy with central cone involvement 0 0 0 0 0 0 1 1
Marfan syndrome 0 0 0 1 0 0 0 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 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 0 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 1 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 1 0 0 0 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 0 1
Multiple exostoses type 2 0 0 0 1 0 0 0 1
Myoclonic dystonia 0 0 0 1 0 0 0 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 0 0 1 1
Myosclerosis 0 0 0 0 0 0 1 1
Myosin storage myopathy 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 1 0 0 0 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 0 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 0 0 1 1
Nocturnal frontal lobe epilepsy 0 11 0 1 0 0 0 1
Optic nerve hypoplasia 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type 10 0 0 0 1 0 0 0 1
Osteogenesis imperfecta type I 0 0 0 1 0 0 0 1
Ovarian cancer; breast cancer 0 0 0 1 0 0 0 1
Paris-Trousseau thrombocytopenia 0 0 0 1 0 0 0 1
Parkinson disease 2 0 0 0 1 0 0 0 1
Paroxysmal extreme pain disorder 0 0 0 0 1 0 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 2 0 0 0 1 0 0 0 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 0 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 1 0 0 0 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 0 1
Poretti-Boltshauser syndrome 0 0 0 1 0 0 0 1
Prader-Willi syndrome 0 0 0 1 0 0 0 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 1 0 0 0 1
Primary amenorrhea 0 0 0 0 0 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
Pseudoxanthoma elasticum 0 0 0 1 0 0 0 1
Pulmonary arterial hypertension 0 0 0 1 0 0 0 1
RHD DEL 0 0 0 1 0 0 0 1
Rare genetic deafness 0 0 0 0 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1 1
Retinitis pigmentosa 0 1 0 0 0 0 1 1
RhD negative 0 0 0 1 0 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 1 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 1 0 0 0 1
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Schizophrenia 17 0 0 0 1 0 0 0 1
Seizures 1395 1 0 1 0 0 0 1
Seizures, benign familial infantile, 2 0 0 0 1 0 0 0 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 1 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 0 1
Skeletal dysplasia 0 0 0 1 0 0 1 1
Small fiber neuropathy 0 0 0 0 1 0 0 1
Spastic paraplegia 0 0 0 0 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 0 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 1 0 0 0 1
Spherocytosis type 2 0 0 0 1 0 0 0 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 0 1
Spinocerebellar ataxia 15 0 0 0 1 0 0 0 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 1 0 0 0 1
Spinocerebellar atrophy 0 0 0 1 0 0 0 1
Split-hand/foot malformation 0 0 0 1 0 0 0 1
Spondylocostal dysostosis 5 0 0 0 1 0 0 0 1
Stargardt disease 1 0 1 0 0 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 1 0 0 1 1
Tuberous sclerosis 2 0 1 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 0 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 0 0 1
Unverricht-Lundborg syndrome 0 1 0 0 1 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 1 0 0 0 1
Vitamin B2 deficiency 0 0 0 1 0 0 0 1
Wieacker Wolff syndrome 0 0 0 1 0 0 0 1
Wilson disease 0 0 0 1 0 0 0 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 653
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.1158C>T (p.Gly386=) rs145340637
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) rs150112824
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.6(CHRNA4):c.1053C>T (p.Ile351=) rs61737042
NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.1228G>A (p.Val410Ile) rs121912272
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1431G>A (p.Ala477=) rs80307076
NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132
NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.6(CHRNA4):c.1662G>A (p.Pro554=) rs121912284
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.6(CHRNA4):c.258C>T (p.Asn86=) rs140239470
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.6(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.6(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.6(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_001037.5(SCN1B):c.255C>G (p.Arg85=) rs1060501166
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.1287C>A (p.Ala429=) rs139804857
NM_001112741.1(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_001126131.2(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) rs41550117
NM_001126131.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
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.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442
NM_001162426.2(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) rs201574228
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=) rs543285265
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001242897.2(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.146+5G>A rs748264035
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.1901C>T (p.Ser634Phe) rs16989535
NM_001242897.2(DEPDC5):c.2053C>T (p.Arg685Cys) rs745342391
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2438G>C (p.Ser813Thr) rs185576553
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) rs537257402
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001242897.2(DEPDC5):c.3267A>G (p.Thr1089=) rs142197878
NM_001242897.2(DEPDC5):c.3343G>A (p.Val1115Met) rs201603222
NM_001242897.2(DEPDC5):c.3510C>T (p.Ala1170=) rs200033252
NM_001242897.2(DEPDC5):c.4459C>T (p.Leu1487=) rs1569256444
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) rs753130543
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) rs140744209
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His) rs150591561
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122
NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) rs190363418
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.828-5C>T rs762444592
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001958.4(EEF1A2):c.1266C>A (p.Gly422=) rs202102758
NM_001958.4(EEF1A2):c.1296G>A (p.Thr432=) rs200259257
NM_001958.4(EEF1A2):c.1320C>T (p.Asn440=) rs367803280
NM_001958.4(EEF1A2):c.279C>T (p.Pro93=) rs142072676
NM_001958.4(EEF1A2):c.526G>A (p.Ala176Thr) rs200840944
NM_001958.4(EEF1A2):c.561C>T (p.Thr187=) rs376891760
NM_002087.3(GRN):c.1227G>A (p.Thr409=) rs140298583
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
NM_002087.3(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.3(GRN):c.393C>G (p.Phe131Leu) rs149180605
NM_002087.3(GRN):c.545C>T (p.Thr182Met) rs63750479
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.3(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.3(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.1389G>A (p.Leu463=) rs150828914
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.150_158del rs41550117
NM_002693.2(POLG):c.153_158del rs41550117
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) rs202244328
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3274-4C>T rs760343963
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) rs11550508
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.203+3A>G rs201423456
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) rs138254004
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) rs185628977
NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) rs774616642
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=) rs80034565
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.719-4G>A rs145030227
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.4C>T (p.Arg2Cys) rs77416795
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.2(CLN5):c.72A>G (p.Gly24=) rs7987664
NM_006493.4(CLN5):c.-4C>T rs587780896
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282
NM_015192.4(PLCB1):c.1251-4T>G rs2076689
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336
NM_015192.4(PLCB1):c.2657-4A>G rs777637262
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_018129.4(PNPO):c.139-4C>G rs766668907
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657
NM_018328.4(MBD5):c.4271C>A (p.Pro1424His) rs775673512
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.290G>A (p.Arg97His) rs116605307
NM_018941.3(CLN8):c.318C>T (p.His106=) rs184988046
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906
NM_020822.3(KCNT1):c.-1C>A rs149383208
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) rs540422455
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_024665.6(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374
NM_024665.6(TBL1XR1):c.291A>G (p.Gln97=) rs61750379
NM_024665.6(TBL1XR1):c.669A>G (p.Pro223=) rs61750378
NM_024665.6(TBL1XR1):c.90A>C (p.Ile30=) rs201359736
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) rs140326040
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547
NM_052874.5(STX1B):c.837G>A (p.Ala279=) rs150313069
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) rs145529594
NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153033.4(KCTD7):c.192A>G (p.Thr64=) rs142526573
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153033.4(KCTD7):c.687T>C (p.Asp229=) rs372150992
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.2119G>A (p.Ala707Thr) rs543477138
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2594_2598TGGGC[3] (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) rs118192212
NM_173354.4(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.4(SIK1):c.2243G>A (p.Arg748His) rs375516507
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102
NM_177550.4(SLC13A5):c.-5G>A rs201070767
NM_177550.4(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375
NM_177550.4(SLC13A5):c.1077G>A (p.Val359=) rs372363091
NM_177550.4(SLC13A5):c.1101A>G (p.Leu367=) rs61520357
NM_177550.4(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852
NM_177550.4(SLC13A5):c.1395C>T (p.Asn465=) rs150722760
NM_177550.4(SLC13A5):c.426G>A (p.Thr142=) rs72836208
NM_177550.4(SLC13A5):c.801C>T (p.Phe267=) rs200645836
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.