ClinVar Miner

Variants with conflicting interpretations studied for Biotinidase deficiency

Coded as:
Minimum review status of the submission for Biotinidase deficiency: Y axis collection method of the submission for Biotinidase deficiency:
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
181 28 5 55 8 2 55 100

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
Biotinidase deficiency pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 5 44 49 4 3 1 1 1 1
likely pathogenic 34 0 10 0 0 0 0 0 0
uncertain significance 45 18 0 2 3 1 1 1 0
likely benign 3 0 3 0 6 0 0 0 0
benign 1 0 6 9 0 0 0 0 0

Condition to condition summary #

Total conditions: 324
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
Biotinidase deficiency 201 28 5 38 2 0 48 80
not provided 0 12 5 35 6 1 20 54
not specified 0 3 0 6 6 0 3 10
Inborn genetic diseases 0 0 0 2 0 0 2 3
11q partial monosomy syndrome 0 0 0 1 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 0 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 1 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 1 0 0 1 1
Abnormality of the eye 0 0 0 1 0 0 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 1 0 0 1 1
Aminoaciduria 0 0 0 0 0 0 1 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 0 0 1 1
Anomalous pulmonary venous return 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Arthrogryphosis 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 0 1 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic behavior; Absent speech 0 0 0 0 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 0 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 0 0 0 1 1
Barakat syndrome 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 0 0 1 1
Becker muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 0 0 0 1 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 1 0 1 1
Birt-Hogg-Dubé Syndrome 0 0 0 0 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 0 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 1 1
Brain malformations and urinary tract defects 0 0 0 0 0 0 1 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 3 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 0 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 0 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 1 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 0 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 0 0 0 1 1
Chromosome 10q22.3-q23.2 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 1 1
Ciliary dyskinesia, primary, 7 0 0 0 1 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 1
Cleidocranial dysostosis 0 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 0 0 1 1
Collagen VI-related myopathy 0 0 0 0 1 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 1 1
Common variable immunodeficiency 0 0 0 0 0 0 1 1
Cone monochromatism 0 0 0 0 0 0 1 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 1 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 0 0 0 1 1
Cryptorchidism; Global developmental delay; Macrocephalus; Generalized hypotonia 0 0 0 0 0 0 1 1
Currarino triad 0 0 0 1 0 0 1 1
Cystic fibrosis 0 0 0 0 0 0 1 1
Cystinuria 0 0 0 1 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 16 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 0 0 0 1 1
Deafness-infertility syndrome 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 1 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 0 0 0 1 1
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 0 0 0 1 1
DiGeorge sequence 0 0 0 0 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 1 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Dystonia 0 0 0 0 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 0 0 0 1 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 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 0 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 0 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 0 0 0 1 1
Factor X deficiency 0 0 0 1 0 0 1 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 1 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 0 1 1
Fanconi anemia 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 1 1
Focal seizures 0 0 0 1 0 0 1 1
Fumarase deficiency 0 0 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 1 1
Glioma 0 0 0 1 0 0 1 1
Global developmental delay 0 0 0 0 1 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 0 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 1 0 0 1 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 1 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Glycogen storage disease, type II 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Griscelli syndrome type 2 0 0 0 0 0 0 1 1
Growth abnormality 0 0 0 0 0 0 1 1
Hematologic neoplasm 0 0 0 0 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 1 1
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 1 1
Hereditary factor XI deficiency disease 0 0 0 1 0 0 1 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 0 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 0 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 0 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inclusion body myositis; GNE myopathy 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 0 0 0 1 1
Inherited Immunodeficiency Diseases 0 0 0 1 0 0 1 1
Intellectual disability 0 0 0 1 0 0 1 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intellectual disability, severe 0 0 0 0 0 0 1 1
Internal malformations 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 0 0 0 1 1
Jeune thoracic dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 0 0 0 0 0 0 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Joubert syndrome; Orofaciodigital syndrome I 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 1 0 1 1
Juvenile polyposis syndrome 0 0 0 0 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 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 1 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 1 1
Leptin receptor deficiency 0 0 0 0 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Lethal multiple pterygium syndrome 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 1 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 0 0 1 1
Lowe syndrome 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 0 0 0 0 0 0 1 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 1 1
Majeed syndrome 0 0 0 1 0 0 1 1
Marfan syndrome 0 0 0 0 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 0 1 1
Mental retardation, autosomal dominant 26 0 0 0 0 0 0 1 1
Mental retardation, autosomal recessive 7 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 1 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mirror movements 1 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Mowat-Wilson syndrome 0 0 0 0 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 0 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Multiple epiphyseal dysplasia 5 0 0 0 1 0 0 1 1
Multiple exostoses type 2 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 1 0 0 1 1
Myoclonic dystonia 0 0 0 0 0 0 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 1 0 1 1
Myosclerosis 0 0 0 0 1 0 1 1
Myosin storage myopathy 0 0 0 0 1 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 1 1
Neoplasm of the breast 0 0 0 0 0 0 1 1
Nephronophthisis 0 0 0 0 1 0 1 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 0 0 0 1 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 0 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 1 0 1 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 0 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 1
Paris-Trousseau thrombocytopenia 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 1 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 0 0 0 1 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 0 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 0 0 0 1 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 0 0 0 1 1
Prader-Willi syndrome 0 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 1 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 0 0 0 1 1
Pulmonary arterial hypertension 0 0 0 1 0 0 1 1
RHD DEL 0 0 0 0 0 0 1 1
Reduced antithrombin III activity 0 0 0 1 0 0 1 1
Reduced protein S activity 0 0 0 1 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 1 0 0 1 1
Retinal dystrophy 0 0 0 1 0 0 1 1
Retinitis pigmentosa 0 0 0 1 0 0 1 1
RhD negative 0 0 0 0 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 0 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 1 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 1 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 0 0 0 1 0 1 1
Schizophrenia 0 0 0 1 0 0 1 1
Schizophrenia 17 0 0 0 0 0 0 1 1
Seizures 0 0 0 1 0 0 1 1
Seizures; Intellectual disability 0 0 0 1 0 0 1 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 1 1
Skeletal dysplasia 0 0 0 1 0 0 1 1
Spastic paraplegia 0 0 0 1 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 0 1 1
Spastic paraplegia 4, autosomal dominant 0 0 0 0 0 0 1 1
Spherocytosis type 2 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 1 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 0 0 0 1 1
Split-hand/foot malformation 0 0 0 0 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 1 1
Stargardt disease 1 0 0 0 1 0 0 1 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 1 1
Treacher Collins syndrome 1 0 0 0 1 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 1
Tuberous sclerosis 2 0 0 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 1 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Vici syndrome 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 1 0 0 1 1
Vitamin B2 deficiency 0 0 0 0 0 0 1 1
Wieacker Wolff syndrome 0 0 0 0 0 0 1 1
Wilson disease 0 0 0 0 0 0 1 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1
alpha Thalassemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.3(BTD):c.310-15delT rs587783008
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.134_137ATCC[4] (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
Single allele

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