ClinVar Miner

Variants with conflicting interpretations studied for Inborn genetic diseases

Coded as:
Minimum review status of the submission for Inborn genetic diseases: Y axis collection method of the submission for Inborn genetic diseases:
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
1706 540 44 280 53 16 200 533

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
Inborn genetic diseases pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 42 135 35 3 1 3 1 6 3
likely pathogenic 138 1 45 1 0 0 0 1 1
uncertain significance 80 58 1 40 14 1 0 2 2
likely benign 0 1 9 0 6 0 0 0 0
benign 1 1 1 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 491
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 0 405 1 113 20 0 91 219
not specified 0 54 0 4 29 0 12 44
Noonan syndrome 0 8 0 5 0 0 1 6
Carbohydrate-deficient glycoprotein syndrome type I 0 0 4 2 0 0 0 5
Retinal dystrophy 0 1 0 4 0 0 1 5
Lung adenocarcinoma 0 1 0 4 0 0 0 4
Marfan syndrome 0 1 0 2 1 0 1 4
Mitochondrial complex I deficiency 0 0 0 3 0 0 1 4
Primary familial hypertrophic cardiomyopathy 0 2 0 1 1 0 2 4
Rasopathy 0 17 0 3 0 0 1 4
Retinitis pigmentosa 0 1 1 3 1 0 0 4
Rett syndrome 0 6 1 3 0 0 1 4
Stargardt disease 1 0 1 0 1 1 0 2 4
Tubulinopathies 0 5 0 3 0 0 1 4
Alternating hemiplegia of childhood 2 0 1 0 2 0 0 1 3
Biotinidase deficiency 0 0 0 2 0 0 2 3
CHARGE association 0 1 0 1 1 0 1 3
Cardio-facio-cutaneous syndrome 0 4 0 3 0 0 0 3
Cardiomyopathy 0 3 0 0 3 0 0 3
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 0 3 0 0 0 0 3
Cohen syndrome 0 3 0 2 1 0 0 3
Cystic fibrosis 0 4 0 1 0 0 2 3
Deafness, autosomal recessive 1A 0 0 1 2 0 0 0 3
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 11 0 0 3 0 0 3
Epileptic encephalopathy 0 1 0 0 2 0 1 3
History of neurodevelopmental disorder 0 29 0 1 0 0 2 3
Hypertrophic cardiomyopathy 0 7 0 1 1 0 1 3
Intellectual disability 0 1 0 1 0 0 2 3
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES 0 0 0 0 0 0 3 3
Nemaline myopathy 2 0 4 0 2 1 0 0 3
Neoplasm of the large intestine 0 1 0 3 0 0 0 3
Non-ketotic hyperglycinemia 0 0 0 1 0 0 2 3
PTEN hamartoma tumor syndrome 0 2 0 1 0 0 2 3
RYR1-Related Disorders 0 8 0 2 1 0 0 3
Smith-Lemli-Opitz syndrome 0 1 0 2 0 0 1 3
Tay-Sachs disease 0 1 0 2 0 0 1 3
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 3 0 0 3
Usher syndrome 0 1 0 3 0 0 0 3
ZTTK syndrome 0 0 0 3 0 0 0 3
Acromicric dysplasia 0 0 0 1 1 0 0 2
Adenocarcinoma of stomach 0 1 0 2 0 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 0 0 1 0 0 1 2
Angelman syndrome 0 8 0 1 0 0 1 2
Autism, susceptibility to, X-linked 3 0 2 0 0 0 1 1 2
Baraitser-Winter syndrome 1 0 0 0 1 0 0 1 2
Brainstem glioma 0 0 0 2 0 0 0 2
Breast-ovarian cancer, familial 2 0 1 0 2 0 0 0 2
Cardiofaciocutaneous syndrome 1 0 3 0 2 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 0 1 0 1 1 0 0 2
Ceroid lipofuscinosis neuronal 2 0 1 2 0 0 0 0 2
Coenzyme Q10 deficiency, primary, 7 0 0 0 2 0 0 1 2
Combined oxidative phosphorylation deficiency 12 0 0 0 1 0 0 1 2
Congenital muscular hypertrophy-cerebral syndrome 0 0 0 2 0 0 0 2
Cowden syndrome 1 0 3 0 1 0 0 1 2
Creatine deficiency, X-linked 0 1 0 1 0 0 1 2
Deficiency of alpha-mannosidase 0 1 2 0 0 0 1 2
Distal spinal muscular atrophy 0 0 0 0 0 0 2 2
Dystonia 12 0 2 0 1 0 0 1 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 0 0 0 1 0 0 1 2
Early infantile epileptic encephalopathy 12 0 1 0 0 0 0 2 2
Epilepsy, focal, with speech disorder and with or without mental retardation 0 2 0 0 0 0 2 2
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 0 0 0 2 0 2
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 1 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 33 0 2 0 1 0 0 1 2
Epileptic encephalopathy, early infantile, 42 0 1 0 1 0 0 1 2
Episodic ataxia type 2 0 0 0 1 0 0 1 2
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 0 0 0 1 0 0 1 2
Familial Mediterranean fever 0 0 0 2 0 0 1 2
Familial hypercholesterolemia 0 0 0 1 0 0 1 2
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 1 0 2 0 0 0 2
Genetic prion diseases 0 0 2 0 0 0 0 2
Glycogen storage disease, type IV 0 0 1 0 0 0 1 2
Hereditary cancer-predisposing syndrome 0 17 0 0 1 0 1 2
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 2 0 0 2
Hypochondroplasia 0 0 1 0 0 0 1 2
Joubert syndrome 6 0 2 0 2 0 0 0 2
LEOPARD syndrome 1 0 0 2 0 0 0 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 0 0 0 1 0 0 1 2
Malignant hyperthermia susceptibility 0 1 0 1 1 0 0 2
Malignant melanoma of skin 0 0 0 2 0 0 0 2
Mental retardation with language impairment and with or without autistic features 0 0 0 1 0 0 1 2
Mental retardation, autosomal dominant 22 0 0 0 2 0 0 0 2
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 1 0 0 0 0 2 2
Microcephaly-micromelia syndrome 0 0 0 0 1 0 1 2
Mitochondrial complex I deficiency, nuclear type 1 0 0 0 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy 0 0 0 1 0 0 1 2
Myelodysplastic syndrome 0 1 0 2 0 0 0 2
Myopathy, Central Core 0 1 1 1 1 0 0 2
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 0 1 0 2 0 0 0 2
Nemaline myopathy 0 0 0 2 0 0 0 2
Neoplasm of the breast 0 1 0 2 0 0 0 2
Neuronal ceroid lipofuscinosis 0 6 0 0 0 0 2 2
Niemann-Pick disease type C1 0 0 1 1 0 0 0 2
Pontocerebellar hypoplasia type 6 0 1 0 1 0 0 1 2
Renal carnitine transport defect 0 0 0 1 0 0 1 2
Retinitis pigmentosa 39 0 0 0 2 0 0 0 2
Rhabdomyolysis 0 1 0 1 0 0 1 2
Shwachman syndrome 0 0 2 0 0 0 0 2
Spastic paraplegia 3 0 0 0 2 0 0 0 2
Spastic paraplegia 7 0 0 0 2 0 0 0 2
Spinocerebellar ataxia 29 0 2 0 1 0 0 1 2
Squamous cell carcinoma of the head and neck 0 1 0 2 0 0 0 2
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 2 0 0 0 2
Tatton-Brown-rahman syndrome 0 0 0 1 0 0 1 2
Transcobalamin II deficiency 0 0 0 0 0 0 2 2
Transitional cell carcinoma of the bladder 0 1 0 2 0 0 0 2
Unverricht-Lundborg syndrome 0 1 0 2 0 0 0 2
Usher syndrome, type 2A 0 1 0 2 0 0 0 2
Uterine cervical neoplasms 0 1 0 2 0 0 0 2
46,XY sex reversal, type 6 0 0 0 1 0 0 0 1
ABCA4-Related Disorders 0 1 0 0 0 0 1 1
AU-KLINE SYNDROME 0 0 0 1 0 0 0 1
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Acromelic frontonasal dysostosis 0 0 0 1 0 0 0 1
Acute myeloid leukemia 0 1 0 1 0 0 0 1
Adams-Oliver syndrome 5 0 0 0 0 1 0 0 1
Adenocarcinoma of prostate 0 1 0 1 0 0 0 1
Adenoid cystic carcinoma 0 0 0 1 0 0 0 1
Aicardi Goutieres syndrome 0 0 0 1 0 0 1 1
Aicardi-Goutieres syndrome 6 0 0 0 1 0 0 0 1
Albinism 0 1 0 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 0 0 1 0 0 0 1
Alpha-1-antitrypsin deficiency 0 1 0 0 0 0 1 1
Altered myosin contractile function 0 0 0 0 1 0 0 1
Angioedema induced by ACE inhibitors, susceptibility to 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 1 0 0 1
Aplastic anemia, susceptibility to 0 0 0 0 0 1 0 1
Arthrogryposis renal dysfunction cholestasis syndrome 0 0 0 1 0 0 0 1
Atrial septal defect 2 0 0 0 0 0 0 1 1
Atrioventricular septal defect 4 0 1 0 0 1 0 0 1
Auriculocondylar syndrome 1 0 0 0 1 0 0 0 1
Auriculocondylar syndrome 2 0 0 0 1 0 0 0 1
Autosomal recessive polycystic kidney disease 0 1 0 0 0 0 1 1
Bainbridge-Ropers syndrome 0 1 0 0 0 0 1 1
Beaulieu-Boycott-Innes syndrome 0 1 0 0 0 0 1 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 0 0 1 0 0 0 1
Bethlem myopathy 1 0 4 0 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 0 1
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 1 0 1
Brown-Vialetto-Van Laere syndrome 2 0 1 0 1 0 0 1 1
Brugada syndrome 0 3 0 0 1 0 0 1
C-like syndrome 0 0 0 0 0 0 1 1
CHARGE association; Kallmann syndrome 5 0 0 0 1 0 0 0 1
CLCN4-related disorder 0 0 0 0 0 0 1 1
COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 0 1 0 1 0 0 0 1
Carcinoma 0 0 0 1 0 0 0 1
Carcinoma of esophagus 0 1 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 2 0 0 0 0 0 0 1 1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 0 0 0 0 0 0 1 1
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 0 0 0 1 0 0 0 1
Ceroid lipofuscinosis neuronal 1 0 0 1 0 0 0 0 1
Ceroid lipofuscinosis neuronal 8 0 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease 0 2 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2C 0 4 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2E 0 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2F 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2O 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease, axonal, type 2S 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A2A; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4A 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4C 0 0 1 1 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 1 0 0 0 1
Chromosome 9q deletion syndrome 0 0 1 0 0 0 0 1
Ciliary dyskinesia 0 4 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 4 0 0 0 0 0 0 1 1
Coffin-Siris syndrome 1 0 5 0 1 0 0 0 1
Collagen VI-related myopathy 0 1 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 35 0 0 0 0 0 0 1 1
Cone-rod dystrophy 3 0 1 0 0 0 0 1 1
Congenital Myasthenic Syndrome, Recessive 0 0 0 0 1 0 0 1
Congenital disorder of glycosylation type 1K 0 0 0 1 0 0 0 1
Congenital disorder of glycosylation type 1Q 0 0 0 0 0 0 1 1
Congenital hypothyroidism 0 0 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 0 1 0 0 0 0 1
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 1 0 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 1 0 0 0 0 0 0 1 1
Crigler-Najjar syndrome 0 0 0 1 0 0 0 1
Cutaneous malignant melanoma 2 0 0 0 0 0 1 0 1
Cutis laxa 0 1 0 1 0 0 0 1
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 0 1 0 1 0 0 0 1
DEAFNESS, AUTOSOMAL RECESSIVE 115 0 0 0 0 0 0 1 1
Deafness, autosomal dominant 12 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 28 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 1 0 1 0 0 0 1
Developmental delay with short stature, dysmorphic features, and sparse hair 0 0 0 0 0 0 1 1
Diastrophic dysplasia 0 0 1 0 0 0 0 1
Dihydropyrimidine dehydrogenase deficiency 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 4 0 0 1 0 0 1
Duodenal stenosis 0 0 0 1 0 0 0 1
Dyskinesia, familial, with facial myokymia 0 0 0 0 0 0 1 1
Dystonia 0 1 0 0 0 0 1 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 0 0 0 0 0 0 1 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 0 0 0 0 0 0 1 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 0 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 0 6 0 0 0 0 1 1
Early infantile epileptic encephalopathy 13 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 62 0 0 0 1 0 0 0 1
Ectopia lentis 0 0 0 0 1 0 0 1
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 0 2 0 0 0 0 1 1
Ehlers-Danlos syndrome, type 4 0 0 0 0 1 0 0 1
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 0 0 0 1 0 0 0 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epilepsy; Microcephaly; intellectual deficiency 0 0 0 1 0 0 0 1
Epileptic encephalopathy, childhood-onset 0 3 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 32 0 1 0 1 0 0 0 1
Episodic ataxia type 2; Familial hemiplegic migraine type 1 0 0 0 0 0 0 1 1
Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Epileptic encephalopathy, early infantile, 42 0 2 0 1 0 0 0 1
Exudative vitreoretinopathy 4, autosomal recessive 0 0 0 1 0 0 0 1
FG syndrome 0 1 0 0 0 0 1 1
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 0 1 0 0 0 0 1 1
Familial hemiplegic migraine type 1 0 0 0 0 0 0 1 1
Familial hypercholesterolemias 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 14 0 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 4 0 0 0 1 0 0 0 1
Familial mediterranean fever, autosomal dominant 0 0 0 1 0 0 0 1
Familial partial lipodystrophy 2 0 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm; Acute aortic dissection 0 0 0 0 1 0 0 1
Fanconi anemia 0 1 0 0 0 0 1 1
Finnish congenital nephrotic syndrome 0 0 0 1 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 0 0 1
Fluorouracil response 0 0 0 0 0 1 0 1
G6PD CAGLIARI 0 0 0 0 0 1 0 1
G6PD CHATHAM 0 0 0 0 0 1 0 1
G6PD MEDITERRANEAN 0 0 0 0 0 1 0 1
G6PD SASSARI 0 0 0 0 0 1 0 1
GRACILE syndrome 0 0 0 0 0 0 1 1
Geleophysic dysplasia 0 0 0 0 1 0 0 1
Geleophysic dysplasia 2 0 0 0 1 0 0 0 1
Gingival fibromatosis 1; Noonan syndrome 4 0 0 0 1 0 0 0 1
Glioblastoma 0 1 0 1 0 0 0 1
Global developmental delay; Expressive language delay; Intellectual disability; Ataxia; Muscular hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 1 0 0 0 1
Global developmental delay; Failure to thrive 0 0 0 1 0 0 0 1
Global developmental delay; Motor delay; Seizures; High palate; Abnormal facial shape; Abnormality of the pinna; Generalized tonic-clonic seizures; Prominent forehead; Limb tremor 0 0 0 0 0 0 1 1
Global developmental delay; Muscular hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 0 0 0 1 0 0 0 1
Global developmental delay; Seizures; Aggressive behavior; Hypothyroidism; Stereotypy; Abnormality of the dentition; Growth hormone deficiency; Agenesis of corpus callosum 0 0 0 1 0 0 0 1
Glucocorticoid deficiency with achalasia 0 0 0 1 0 0 0 1
Glucose 6 phosphate dehydrogenase deficiency 0 0 0 1 0 0 0 1
Glucose-6-phosphate transport defect 0 0 0 1 0 0 0 1
Glutaric acidemia iic, late-onset 0 0 0 1 0 0 0 1
Glutaric aciduria, type 2 0 0 0 1 0 0 0 1
Glycogen storage disease type IXa1 0 0 0 1 0 0 0 1
Glycogen storage disease, type I 0 0 0 1 0 0 0 1
Glycogen storage disease, type II 0 0 1 0 0 0 0 1
Gm2-gangliosidosis, juvenile 0 0 0 0 0 0 1 1
HEMOGLOBIN S 0 0 0 0 0 1 0 1
Helsmoortel-van der aa syndrome 0 2 0 1 0 0 0 1
Hepatocellular carcinoma 0 1 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 3 0 0 0 0 1 1
Hereditary insensitivity to pain with anhidrosis 0 0 1 0 0 0 0 1
Hereditary motor and sensory neuropathy 0 0 0 1 0 0 0 1
Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 1 0 0 0 1
Hyperkalemic Periodic Paralysis 0 0 0 0 1 0 0 1
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 0 0 0 1 0 0 0 1
Hyperphosphatasia-intellectual disability syndrome 0 0 0 1 0 0 0 1
Hypogonadism with anosmia 0 0 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 1 0 0 0 1
Hypokalemic periodic paralysis 0 0 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 0 0 1 0 0 0 1
I cell disease 0 0 1 0 0 0 0 1
IL21R immunodeficiency 0 1 0 0 1 0 0 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Infantile hypophosphatasia 0 0 0 0 0 0 1 1
Infantile myofibromatosis 0 0 0 0 0 0 1 1
Infantile myofibromatosis 1; Hydrocephalus 0 0 0 0 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 1 0 0 0 1
Intellectual disability, profound; Seizure disorder 0 0 0 1 0 0 0 1
Joubert syndrome 2 0 0 1 0 0 0 0 1
Joubert syndrome 2; Meckel syndrome type 2 0 0 0 1 0 0 0 1
Joubert syndrome; Oligohydramnios; Renal cyst 0 1 0 1 0 0 0 1
Juvenile polyposis syndrome 0 1 0 1 0 0 0 1
Juvenile-onset dystonia 0 0 0 1 0 0 0 1
KBG syndrome 0 4 0 1 0 0 0 1
Kallmann syndrome 3 0 0 0 1 0 0 0 1
Kaufman oculocerebrofacial syndrome 0 0 0 1 0 0 0 1
Koolen-de Vries syndrome 0 0 0 0 0 0 1 1
Laminin alpha 2-related dystrophy 0 2 0 0 1 0 0 1
Leber congenital amaurosis 5 0 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
Legius syndrome 0 0 0 0 0 0 1 1
Lethal arthrogryposis with anterior horn cell disease 0 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 1 0 0 0 1 0 0 0 1
Leukoencephalopathy with vanishing white matter 0 0 0 0 0 0 1 1
Lig4 syndrome 0 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 0 1
Lissencephaly 1 0 1 0 1 0 0 0 1
Lissencephaly 3 0 2 0 1 0 0 0 1
Lissencephaly 3; Agenesis of corpus callosum; Genetic syndrome with a Dandy-Walker malformation as major feature 0 0 0 1 0 0 0 1
Liver failure acute infantile 0 1 0 1 0 0 0 1
Localized epidermolytic hyperkeratosis 0 0 0 0 0 0 1 1
Long QT syndrome 0 1 0 0 0 0 1 1
Long QT syndrome 1 0 0 0 0 0 0 1 1
Luscan-lumish syndrome 0 1 0 0 0 0 1 1
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
MASS syndrome 0 0 0 0 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 0 0 0 1 0 0 0 1
MFN2-Related Disorders 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 0 0 0 1 0 0 0 1
Macular dystrophy 0 0 0 1 0 0 0 1
Malaria, resistance to 0 0 0 0 0 1 0 1
Malignant hyperthermia 0 0 0 0 0 0 1 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 1 0 1
Malignant neoplasm of body of uterus 0 1 0 1 0 0 0 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 1 0 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 0 1 0 0 0 1
Mental retardation, X-linked 1 0 0 0 1 0 0 0 1
Mental retardation, X-linked 98 0 1 0 1 0 0 0 1
Mental retardation, X-linked, syndromic 13 0 6 0 1 0 0 1 1
Mental retardation, X-linked, syndromic, Bain type 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 23 0 1 0 0 0 0 1 1
Mental retardation, autosomal dominant 31 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 35 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 38 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 38; Epileptic encephalopathy, early infantile, 33 0 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 5 0 2 0 0 0 0 1 1
Mental retardation, autosomal dominant 9 0 0 0 1 0 0 0 1
Mental retardation, autosomal recessive 38 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 5 0 1 0 1 0 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 1 0 1 0 0 0 1
Mental retardation-hypotonic facies syndrome, X-linked 0 1 0 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 0 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 0 0 0 0 0 1 1
Microcephaly, congenital cataract, and psoriasiform dermatitis 0 0 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 10 0 0 0 1 0 0 0 1
Microphthalmia, syndromic 12 0 0 0 1 0 0 0 1
Migraine 0 0 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0 2 0 1 0 0 0 1
Mitochondrial complex III deficiency 0 0 0 0 0 0 1 1
Mucolipidosis type IV 0 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-B 0 0 0 1 0 0 1 1
Multiminicore Disease 0 1 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 1 0 0 0 1
Multiple myeloma 0 0 0 1 0 0 0 1
Multiple sulfatase deficiency 0 0 0 0 0 0 1 1
Muscular dystrophy 0 0 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 0 2 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 0 1 0 0 0 0 1 1
Myasthenic syndrome, slow-channel congenital 0 0 0 1 0 0 0 1
Myoclonic-atonic epilepsy 0 0 0 1 0 0 0 1
Myopathy, distal, 1 0 0 0 0 1 0 0 1
Myosin storage myopathy 0 0 0 0 1 0 0 1
N-terminal acetyltransferase deficiency 0 0 0 0 0 0 1 1
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 0 0 0 1 0 0 0 1
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 0 0 0 1 0 0 0 1
Nasopharyngeal Neoplasms 0 0 0 1 0 0 0 1
Nemaline Myopathy, Recessive 0 1 0 0 1 0 0 1
Neoplasm of brain 0 1 0 1 0 0 0 1
Neoplasm of the thyroid gland 0 0 0 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 0 0 1 0 0 0 1
Neurodevelopmental disorder with involuntary movements 0 2 0 0 0 0 1 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 1 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 0 0 0 1 0 0 0 1
Neuromuscular disease, congenital, with uniform type 1 fiber 0 1 0 0 1 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 1 0 0 0 0 1 1
Nonsyndromic hearing loss and deafness 0 4 0 1 0 0 0 1
Noonan syndrome 1 0 7 1 0 0 0 0 1
Noonan syndrome 10 0 0 0 1 0 0 0 1
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 0 4 0 1 0 0 0 1
Noonan syndrome 3 0 2 0 1 0 0 0 1
Noonan syndrome with multiple lentigines 0 1 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 0 1 0 0 0 1
Oculocutaneous albinism 0 1 0 1 0 0 0 1
Oculocutaneous albinism type 1B 0 0 0 1 0 0 0 1
Oculofaciocardiodental syndrome 0 0 0 0 1 0 0 1
Odontoonychodermal dysplasia 0 2 0 0 0 0 1 1
Odontoonychodermal dysplasia; Tooth agenesis, selective, 4 0 1 0 0 0 0 1 1
Okur-chung neurodevelopmental syndrome 0 0 0 1 0 0 0 1
Opitz-Frias syndrome 0 0 0 0 0 0 1 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Optic nerve hypoplasia and abnormalities of the central nervous system 0 0 0 0 0 0 1 1
Optic neuropathy; Progressive cerebellar ataxia; Abnormality of the cerebral white matter; Abnormal pyramidal signs; Congenital sensorineural hearing impairment 0 0 0 1 0 0 0 1
Osteogenesis imperfecta 0 0 0 0 0 0 1 1
Ovarian Serous Cystadenocarcinoma 0 0 0 1 0 0 0 1
PHACE syndrome; Tethered cord; Genetic syndrome with a Dandy-Walker malformation as major feature 0 0 0 1 0 0 0 1
PI F 0 0 0 0 0 1 0 1
PI Z 0 0 0 0 0 1 0 1
PI Z(AUGSBURG) 0 0 0 0 0 1 0 1
PI Z(TUN) 0 0 0 0 0 1 0 1
PTPN11-related disorder 0 1 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 1 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 1 0 1 0 0 0 1
Paramyotonia congenita of von Eulenburg 0 0 0 0 1 0 0 1
Parkinson disease 8, autosomal dominant 0 0 1 0 0 0 0 1
Peroxisome biogenesis disorder 4B 0 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 0 0 0 1 0 0 0 1
Peutz-Jeghers syndrome 0 0 0 1 0 0 0 1
Phosphate transport defect 0 0 0 1 0 0 0 1
Phosphoribosylpyrophosphate synthetase superactivity 0 0 0 1 0 0 0 1
Pituitary hormone deficiency, combined 2 0 0 0 0 0 0 1 1
Polydactyly; Male infertility; Syndactyly; Hypospadias, penile; Mesoaxial hand polydactyly; Oligospermia 0 0 0 0 0 0 1 1
Pontocerebellar hypoplasia type 1 0 2 0 0 0 0 1 1
Pontocerebellar hypoplasia type 1A 0 1 0 0 0 0 1 1
Pontocerebellar hypoplasia type 2A 0 0 1 0 0 0 0 1
Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A 0 0 0 1 0 0 0 1
Pontocerebellar hypoplasia, type 1b 0 0 0 1 0 0 0 1
Potassium aggravated myotonia 0 0 0 0 1 0 0 1
Primary Microcephaly, Recessive 0 3 0 0 0 0 1 1
Primrose syndrome 0 0 0 1 0 0 0 1
Progressive myoclonic epilepsy 0 1 0 1 0 0 0 1
Pseudo-Hurler polydystrophy 0 0 1 0 0 0 0 1
Pseudohermaphroditism 0 2 0 1 0 0 0 1
Pulmonary hypoplasia 0 0 0 1 0 0 0 1
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 2 0 1 0 0 0 1
Pyruvate dehydrogenase E2 deficiency 0 0 0 0 0 0 1 1
RAHMAN SYNDROME 0 0 0 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa 0 0 0 0 0 0 1 1
Retinitis pigmentosa 15 0 0 0 1 0 0 0 1
Robin sequence 0 0 0 1 0 0 0 1
Rubinstein-Taybi syndrome 2 0 1 0 0 0 0 1 1
SHORT syndrome 0 0 0 0 0 0 1 1
SNIJDERS BLOK-CAMPEAU SYNDROME 0 0 0 0 0 0 1 1
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 0 1
Schopf-Schulz-Passarge syndrome 0 2 0 0 0 0 1 1
Schuurs-hoeijmakers syndrome 0 0 0 1 0 0 0 1
Segawa syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Seizures; hypotonia; Neurodevelopmental Disability 0 1 0 1 0 0 0 1
Selective tooth agenesis 0 1 0 0 0 0 1 1
Short stature, idiopathic, autosomal 0 0 0 1 0 0 0 1
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 0 0 0 1 0 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 1 0 0 0 1
Sialic acid storage disease, severe infantile type 0 0 0 0 0 0 1 1
Smith-Kingsmore syndrome 0 0 0 0 0 0 1 1
Snyder Robinson syndrome 0 0 1 0 0 0 0 1
Spastic ataxia Charlevoix-Saguenay type 0 0 0 1 0 0 0 1
Spastic paraplegia 0 3 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 1 0 0 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 1 0 1 0 0 0 1
Spastic paraplegia 77, autosomal recessive 0 0 0 0 0 0 1 1
Sphingolipid activator protein 1 deficiency 0 0 0 1 0 0 0 1
Spinal muscular atrophy, distal, autosomal recessive, 1 0 0 0 1 0 0 0 1
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 0 0 0 1 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 0 0 0 1 0 0 0 1
Spinocerebellar ataxia 6 0 0 0 0 0 0 1 1
Spinocerebellar ataxia autosomal recessive 1 0 1 0 1 0 0 0 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the skin 0 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 1 0 1 0 0 0 1
Stiff skin syndrome 0 0 0 0 1 0 0 1
Sucrase-isomaltase deficiency 0 0 0 1 0 0 0 1
Susceptibility to malaria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 1 0 0 0 1
Symmetrical dyschromatosis of extremities 0 0 0 0 0 0 1 1
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 0 1 0 1 0 0 1 1
Syncope; Abnormality of the dentition; Intermittent diarrhea; Cachexia; Urticaria; Peripheral neuropathy 0 0 0 0 0 0 1 1
Tetralogy of Fallot 0 0 0 0 0 0 1 1
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 0 0 0 0 0 0 1 1
Three M syndrome 1 0 0 0 0 0 0 1 1
Thyroid hormone resistance, generalized, autosomal dominant 0 0 0 0 0 0 1 1
Tyrosinase-negative oculocutaneous albinism 0 2 0 1 0 0 0 1
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 0 0 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 0 1 0 1 0 0 0 1
Ullrich congenital muscular dystrophy 1 0 0 0 1 0 0 0 1
Usher syndrome, type 3B 0 0 0 1 0 0 0 1
Uterine Carcinosarcoma 0 0 0 1 0 0 0 1
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 0 0 0 0 0 0 1 1
Verheij syndrome 0 1 0 0 0 0 1 1
Vici syndrome 0 1 0 0 1 0 0 1
Visceral heterotaxy 5, autosomal 0 0 0 1 0 0 1 1
Weill-Marchesani syndrome 0 0 0 0 1 0 0 1
Wilson disease 0 2 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 0 0 1 0 0 0 1
Xeroderma pigmentosum, group D 0 0 0 1 0 0 0 1
Young Simpson syndrome 0 0 1 0 0 0 0 1
Zimmermann-Laband syndrome 1 0 0 0 1 0 0 0 1
ataluren response - Efficacy 0 0 0 0 0 1 0 1
capecitabine response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 1 0 1
desflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
enflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
fluorouracil response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 1 0 1
halothane response - Toxicity/ADR 0 0 0 0 0 1 0 1
heterogeneous nuclear ribonucleoprotein G, human 0 0 0 0 0 0 1 1
isoflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor response - Efficacy 0 0 0 0 0 1 0 1
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
sevoflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
succinylcholine response - Toxicity/ADR 0 0 0 0 0 1 0 1
tegafur response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 1 0 1
von Willebrand disease, type 1, susceptibility to 0 0 0 0 0 1 0 1
von Willebrand disease, type 2a 0 0 0 1 0 0 0 1
von Willebrand disorder 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 533
Download table as spreadsheet
HGVS dbSNP
NM_000044.4(AR):c.2659A>G (p.Met887Val) rs755226547
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000079.3(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000124.2(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000158.3(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.3(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000161.2(GCH1):c.343G>A (p.Asp115Asn) rs1393095176
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) rs143036974
NM_000197.1(HSD17B3):c.278-1G>C rs149607031
NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000226.3(KRT9):c.488G>A (p.Arg163Gln) rs57758262
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000264.4(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.2020C>G (p.Leu674Val) rs371412500
NM_000284.3(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000292.2(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000296.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000311.4(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.4(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.6(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000328.2(RPGR):c.1905+500_1905+501delAG rs398122960
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.4253+4C>T rs61754044
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.3(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000381.3(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.2(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000426.3(LAMA2):c.1854_1861dupACGTGTTC (p.Leu621Hisfs) rs202247791
NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461
NM_000430.3(PAFAH1B1):c.569-10T>C rs113994202
NM_000440.2(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000463.2(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000478.5(ALPL):c.550C>T (p.Arg184Trp) rs763159520
NM_000481.3(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000487.5(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000489.3(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000512.4(GALNS):c.953T>G (p.Met318Arg) rs746756997
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000520.5(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.5(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000523.3(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000528.3(MAN2B1):c.1830+1G>C rs80338677
NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000687.3(AHCY):c.266C>T (p.Ala89Val) rs755222515
NM_000687.3(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000829.3(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_000833.4(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000834.3(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000933.3(PLCB4):c.1862G>A (p.Arg621His) rs397514481
NM_000944.4(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001003722.1(GLE1):c.1706G>A (p.Arg569His) rs121434407
NM_001005271.2(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005463.2(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001005463.2(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001008537.2(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_001035.2(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.2(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001036.4(RYR3):c.4991G>C (p.Gly1664Ala) rs762176717
NM_001036.4(RYR3):c.9799C>T (p.Pro3267Ser) rs182972491
NM_001039141.2(TRIOBP):c.5224C>T (p.Leu1742Phe) rs200493962
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001041.3(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.3(SI):c.3370C>T (p.Arg1124Ter) rs200451408
NM_001065.3(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.3(TNFRSF1A):c.184T>G (p.Cys62Gly) rs104895225
NM_001080517.2(SETD5):c.3856del (p.Ser1286Leufs) rs587777329
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser) rs201842633
NM_001101.3(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.4(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.1097dup (p.Ser368Leufs) rs1554329078
NM_001105.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111125.2(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001111125.2(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394
NM_001124758.3(SPNS2):c.955_957del (p.Ser319del) rs749994718
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001128849.1(SMARCA4):c.4309C>T (p.Arg1437Trp) rs1057518049
NM_001160036.1(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163435.2(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001193416.2(DDX3X):c.1226G>A (p.Gly409Asp) rs1057523822
NM_001193416.2(DDX3X):c.1498-2A>G rs1131691608
NM_001193466.1(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.1(KANSL1):c.895C>T (p.Arg299Cys) rs755353984
NM_001197104.1(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001199107.1(TBC1D24):c.475delC (p.Leu159Trpfs) rs796053403
NM_001199107.1(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001205293.1(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.2(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) rs767713084
NM_001242875.2(ELP2):c.812A>G (p.His271Arg) rs773432002
NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001252634.1(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001256850.1(TTN):c.42844G>A (p.Gly14282Arg) rs371943746
NM_001256850.1(TTN):c.52723A>G (p.Ile17575Val) rs374058726
NM_001256850.1(TTN):c.64898G>A (p.Gly21633Asp) rs201043950
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) rs794727136
NM_001281723.2(BTD):c.1618C>A (p.Arg540Ser) rs80338686
NM_001281723.2(BTD):c.534G>T (p.Lys178Asn) rs397514367
NM_001281723.2(BTD):c.974A>G (p.His325Arg) rs397507176
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001376.4(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001399.4(EDA):c.1094T>C (p.Val365Ala) rs397516654
NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001467.5(SLC37A4):c.1042_1043delCT (p.Leu348Valfs) rs80356491
NM_001540.3(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001743.5(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001759.3(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001830.3(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001844.4(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001845.4(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001851.4(COL9A1):c.876+1G>C rs202232444
NM_001931.4(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001958.3(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.3(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_001958.3(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_002052.4(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002074.4(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002074.4(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002109.5(HARS):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002140.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002222.5(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.5(ITPR1):c.4612G>A (p.Val1538Met) rs397514535
NM_002222.5(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_002238.3(KCNH1):c.1405G>A (p.Gly469Arg) rs730882175
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002317.5(LOX):c.235G>A (p.Ala79Thr) rs752839330
NM_002335.3(LRP5):c.1709G>A (p.Arg570Gln) rs80358312
NM_002430.2(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002472.2(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006
NM_002491.2(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978
NM_002529.3(NTRK1):c.851-33T>A rs80356674
NM_002609.3(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002778.3(PSAP):c.650C>T (p.Thr217Ile) rs121918103
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1877A>G (p.His626Arg) rs1553609795
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_003035.2(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003036.3(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003038.4(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681
NM_003042.3(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.3(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417
NM_003073.4(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003106.3(SOX2):c.571G>A (p.Ala191Thr) rs104893808
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003384.2(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003491.3(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_003491.3(NAA10):c.440T>C (p.Met147Thr) rs1057518605
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003560.3(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_003560.3(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.3(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004092.3(ECHS1):c.410_411delAT (p.Tyr137Cysfs) rs777218310
NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.3(KDM5C):c.2785C>T (p.Arg929Ter) rs782405999
NM_004247.3(EFTUD2):c.702+1G>T rs1085307457
NM_004299.6(ABCB7):c.2047G>A (p.Gly683Ser) rs797044558
NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met) rs374873057
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_004333.5(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004380.2(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004519.3(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004523.3(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004543.4(NEB):c.1849delG (p.Asp617Ilefs) rs755531536
NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_004595.4(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004667.5(HERC2):c.10969G>A (p.Val3657Ile) rs139953376
NM_004667.5(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) rs1553749681
NM_004958.3(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004974.3(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) rs201340369
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005321.2(HIST1H1E):c.430dup (p.Ala144Glyfs) rs1131690805
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005402.3(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005465.4(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005548.2(KARS):c.599C>T (p.Pro200Leu) rs201650281
NM_005629.3(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.3(SLC6A8):c.321_323delCTT (p.Phe107del) rs80338739
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005654.5(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005859.4(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005862.2(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005921.1(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005994.3(TBX2):c.914G>A (p.Arg305His) rs1555877071
NM_006009.3(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.3(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.3(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006037.3(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_006086.3(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006158.4(NEFL):c.338_339delAGinsCC (p.Gln113Pro) rs1554497641
NM_006218.2(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006245.3(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006261.4(PROP1):c.296G>A (p.Arg99Gln) rs137853100
NM_006269.1(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006514.3(SCN10A):c.1141A>G (p.Ile381Val) rs150923753
NM_006516.3(SLC2A1):c.680-11G>A rs1259158687
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006567.4(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006744.3(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006745.4(MSMO1):c.731A>G (p.Tyr244Cys) rs760048191
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.2(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.2(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006907.2(PYCR1):c.633+1G>C rs144346996
NM_006914.3(RORB):c.1249_1251delACG (p.Thr417del) rs869312972
NM_006914.3(RORB):c.218T>C (p.Leu73Pro) rs869312971
NM_006922.3(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_007118.3(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007254.3(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.3(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007327.3(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.3(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863
NM_012330.3(KAT6B):c.4205_4206delCT (p.Ser1402Cysfs) rs199470477
NM_012434.4(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_013275.5(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_014080.4(DUOX2):c.2895_2898delGTTC (p.Phe966Serfs) rs530719719
NM_014159.6(SETD2):c.19C>T (p.Gln7Ter) rs541943893
NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014363.5(SACS):c.7139delA (p.Asn2380Ilefs) rs1057516689
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014941.3(MORC2):c.995A>G (p.Tyr332Cys) rs1555938796
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015046.5(SETX):c.343_345delCTT (p.Leu115del) rs587776537
NM_015265.3(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_015338.5(ASXL1):c.1544_1545delTG (p.Val515Glyfs) rs777537805
NM_015339.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_015339.4(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_015665.5(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015836.3(WARS2):c.298_300delCTT (p.Leu100del) rs772867219
NM_015836.3(WARS2):c.797delC (p.Pro266Argfs) rs746478253
NM_015836.3(WARS2):c.938A>T (p.Lys313Met) rs145867327
NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.4(ATL1):c.1483C>T (p.Arg495Trp) rs864622269
NM_016035.4(COQ4):c.202G>C (p.Asp68His) rs758522459
NM_016035.4(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016180.4(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593
NM_017613.3(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.3(DONSON):c.82A>C (p.Ser28Arg) rs768071555
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017646.5(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017745.5(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_017780.3(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.3(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.3(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.3(CHD7):c.5405-17G>A rs794727423
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) rs139073416
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9793dupA (p.Met3265Asnfs) rs886041185
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955
NM_017946.3(FKBP14):c.467_468delCT (p.Ser156Terfs) rs753775062
NM_017946.3(FKBP14):c.568_570delAAA (p.Lys190del) rs762279651
NM_018006.4(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018055.4(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018062.3(FANCL):c.1051_1052delAG (p.Ser351Phefs) rs750871999
NM_018109.3(MTPAP):c.1072C>T (p.Arg358Trp) rs918158750
NM_018136.4(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018486.2(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018896.4(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.703delC (p.Val236Serfs) rs761621368
NM_018972.3(GDAP1):c.1019dup (p.Arg341Glnfs) rs756461496
NM_018972.3(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019109.4(ALG1):c.1079C>T (p.Ala360Val) rs398124348
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020247.4(COQ8A):c.1665G>A (p.Met555Ile) rs199874519
NM_020320.3(RARS2):c.419T>G (p.Phe140Cys) rs772887102
NM_020320.4(RARS2):c.35A>G (p.Gln12Arg) rs147391618
NM_020533.2(MCOLN1):c.1047dupA (p.Phe350Ilefs) rs1057516904
NM_020705.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) rs201653711
NM_020745.3(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_020919.3(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_020928.1(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020964.2(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022445.3(TPK1):c.119T>C (p.Leu40Pro) rs387906936
NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024306.4(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024339.4(THOC6):c.748A>C (p.Thr250Pro) rs1555498821
NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024592.4(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836
NM_024757.4(EHMT1):c.2193-1G>C rs137852720
NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.2(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025152.2(NUBPL):c.815-27T>C rs118161496
NM_025180.4(CEP63):c.31C>T (p.Arg11Ter) rs763001827
NM_025216.2(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_030632.2(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_031844.2(HNRNPU):c.2299_2302delAACA (p.Asn767Glufs) rs878855133
NM_032195.2(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_032195.2(SON):c.5717_5720delGAAA (p.Arg1906Lysfs) rs1382415023
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_032682.5(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_033360.3(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033419.3(PGAP3):c.827C>T (p.Pro276Leu) rs750093817
NM_052867.2(NALCN):c.2563C>T (p.Arg855Ter) rs376152742
NM_052876.3(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_078480.2(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_080632.2(UPF3B):c.352G>A (p.Val118Ile) rs187600102
NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_133378.4(TTN):c.90056G>A (p.Arg30019His) rs55704830
NM_133378.4(TTN):c.98971G>C (p.Glu32991Gln) rs199632397
NM_138694.3(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138736.2(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_138927.2(SON):c.5549_5550delGA (p.Arg1850Ilefs) rs886039774
NM_138927.2(SON):c.5753_5756delTTAG (p.Val1918Glufs) rs886039773
NM_139058.2(ARX):c.1318_1320dupGCC (p.Ala440_Phe441insAla) rs398124508
NM_139058.2(ARX):c.333_335dupGGC (p.Ala115_Thr116insAla) rs387906492
NM_139276.2(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144773.3(PROKR2):c.151G>A (p.Ala51Thr) rs144994507
NM_144773.3(PROKR2):c.58del (p.His20Metfs) rs587777834
NM_152263.3(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152268.3(PARS2):c.836C>T (p.Ser279Leu) rs730882153
NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152594.2(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152743.3(BRAT1):c.2125_2128delTTTG (p.Phe709Thrfs) rs763527391
NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) rs201296399
NM_153252.4(BRWD3):c.1300T>C (p.Tyr434His) rs779094763
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_172079.2(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_172079.2(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_175629.2(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_175629.2(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_175629.2(DNMT3A):c.901C>T (p.Arg301Trp) rs1553414070
NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.4(PIGN):c.932T>G (p.Leu311Trp) rs746882521
NM_177559.2(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_181079.4(IL21R):c.1099G>A (p.Gly367Ser) rs56148525
NM_181523.2(PIK3R1):c.1615_1617delATT (p.Ile539del) rs397514046
NM_181714.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_182641.3(BPTF):c.2366delA (p.Asn789Thrfs) rs1555639076
NM_182760.3(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_198056.2(SCN5A):c.612-233G>C rs1553706324
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_199292.2(TH):c.1481C>T (p.Thr494Met) rs45471299
NM_201631.3(TGM5):c.104G>A (p.Arg35Gln) rs749224503
NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly) rs200689054
NM_203447.3(DOCK8):c.986C>T (p.Ala329Val) rs75352090
NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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