ClinVar Miner

Variants with conflicting interpretations studied for Retinitis pigmentosa

Coded as:
Minimum review status of the submission for Retinitis pigmentosa: Y axis collection method of the submission for Retinitis pigmentosa:
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
530 144 11 138 24 1 99 230

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
Retinitis pigmentosa pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 8 64 13 3 4 0 0
likely pathogenic 86 3 72 19 12 1 1
uncertain significance 10 17 0 14 9 0 0
likely benign 0 0 3 0 5 0 0
benign 0 1 1 2 0 0 0

Condition to condition summary #

Total conditions: 353
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 99 2 52 20 0 49 109
not specified 0 13 1 9 7 0 24 40
Retinitis pigmentosa 841 33 4 19 0 0 10 30
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 19 0 6 0 0 19 25
Retinal dystrophy 0 20 1 13 0 0 3 17
Usher syndrome, type 2A 0 10 3 6 1 0 5 13
Retinitis pigmentosa 25 0 12 0 8 1 0 5 12
Retinitis pigmentosa 39 0 8 3 5 0 0 5 10
Usher syndrome 0 6 2 3 2 0 5 10
Retinitis pigmentosa 4 0 6 0 9 0 0 0 9
Stargardt disease 1 0 6 0 8 0 0 2 8
Inborn genetic diseases 0 1 1 4 1 0 2 7
Bardet-Biedl syndrome 2 0 0 0 5 0 0 2 6
Retinitis Pigmentosa, Recessive 0 1 0 1 2 0 3 6
Juvenile neuronal ceroid lipofuscinosis 0 0 0 2 0 0 2 4
Macular dystrophy 0 9 1 2 0 0 1 4
Rare genetic deafness 0 9 0 4 0 0 0 4
Retinitis pigmentosa 26 0 1 0 1 0 0 3 4
Bardet-Biedl syndrome 0 6 0 2 0 0 1 3
Cone-Rod Dystrophy, Dominant 0 2 0 0 3 0 0 3
Cone-rod dystrophy 0 6 1 2 0 0 0 3
Enhanced s-cone syndrome; Retinitis pigmentosa 37 0 1 0 2 0 0 1 3
Leber congenital amaurosis 0 6 0 0 1 0 2 3
Retinitis Pigmentosa, Dominant 0 2 0 0 1 0 2 3
Stargardt disease 0 4 0 3 0 0 0 3
ABCA4-Related Disorders 0 1 0 1 0 0 1 2
Achromatopsia 3 0 1 1 0 0 0 1 2
Bardet-Biedl syndrome 1 0 1 0 2 0 0 0 2
Cone-rod dystrophy 3 0 3 0 2 0 0 0 2
Cone/cone-rod dystrophy 0 2 0 1 0 0 1 2
Cone/cone-rod dystrophy; Retinal pigment epithelial atrophy 0 0 0 2 0 0 0 2
Leber congenital amaurosis 1 0 2 0 1 0 0 1 2
Leber congenital amaurosis 13 0 5 1 1 0 0 0 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 1 0 2 0 0 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 0 0 0 0 2 2
Neuronal ceroid lipofuscinosis 0 0 0 0 0 0 2 2
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 0 0 0 2 0 0 0 2
Retinal dystrophy with or without extraocular anomalies 0 0 0 2 0 0 0 2
Retinitis pigmentosa 15 0 2 0 2 0 0 0 2
Retinitis pigmentosa 19 0 1 0 1 0 0 1 2
Retinitis pigmentosa 33 0 0 0 2 0 0 0 2
Retinitis pigmentosa 40 0 4 0 2 0 0 0 2
Retinitis pigmentosa 49 0 2 0 2 0 0 0 2
Retinitis pigmentosa 74 0 2 0 2 0 0 0 2
Retinitis pigmentosa-deafness syndrome 0 1 0 0 0 0 2 2
Stargardt Disease, Recessive 0 0 0 0 0 0 2 2
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
Abnormal macular morphology; Peripheral neuropathy 0 0 0 0 0 0 1 1
Abnormality of esophagus morphology 0 0 0 1 0 0 0 1
Abnormality of the eye 0 3 0 0 0 0 1 1
Achromatopsia 0 1 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
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 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 12 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 21 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 0 1 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
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
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
Blurred vision; Nyctalopia; Peripheral visual field loss 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
Bull's eye maculopathy 0 0 0 1 0 0 0 1
CHARGE association 0 0 0 1 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
Ceroid lipofuscinosis neuronal 7 0 0 0 0 0 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 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
Cone dystrophy 3 0 0 0 1 0 0 0 1
Cone monochromatism 0 0 0 1 0 0 0 1
Cone-Rod Dystrophy, Recessive 0 0 0 0 0 0 1 1
Cone-rod degeneration 0 1 0 1 0 0 0 1
Cone-rod dystrophy 12 0 0 0 1 0 0 0 1
Cone-rod dystrophy 16 0 0 0 1 0 0 0 1
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 0 2 0 1 0 0 0 1
Cone-rod dystrophy 5 0 0 0 0 0 0 1 1
Congenital Stationary Night Blindness, Dominant 0 0 0 0 0 0 1 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 1 0 0 0 1
Congenital stationary night blindness 0 0 1 0 0 0 0 1
Congenital stationary night blindness, type 1E 0 0 0 0 1 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
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 12; Usher syndrome, type 1D 0 0 0 0 0 0 1 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
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 0 0 0 1 0 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Enhanced s-cone syndrome 0 1 0 1 0 0 0 1
Epilepsy 0 0 0 0 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 1 0 0 0 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 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 hypercholesterolemia 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 0 0 1 1
Fanconi anemia 0 0 0 1 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
Global developmental delay 0 0 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
Goldmann-Favre syndrome 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
Hearing impairment 0 1 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 0 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 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 1 0 0 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
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 1 0 1 0 0 0 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Joubert syndrome 3 0 3 0 1 0 0 0 1
Joubert syndrome 5 0 1 0 1 0 0 0 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
Knobloch syndrome 1 0 0 0 1 0 0 0 1
Laminin alpha 2-related dystrophy 0 0 0 1 0 0 0 1
Leber congenital amaurosis 10 0 0 1 0 0 0 0 1
Leber congenital amaurosis 8 0 0 1 0 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
Long QT syndrome 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 degeneration 0 0 0 0 0 0 1 1
Macular dystrophy, vitelliform, 5 0 0 0 1 0 0 0 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
Meckel syndrome type 4 0 1 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 0 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
NR2E3-Related Disorders 0 1 0 1 0 0 0 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
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 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
Nonsyndromic Hearing Loss, Recessive 0 1 0 0 0 0 1 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
PROM1-Related Disorders 0 0 0 1 0 0 0 1
PTEN hamartoma tumor syndrome 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
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
Phytanic acid storage disease 0 1 0 0 0 0 1 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Pigmented paravenous chorioretinal atrophy 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
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 cone dystrophy (without rod involvement) 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
RLBP1-Related Disorders 0 1 0 1 0 0 0 1
Refsum disease, adult, 1 0 0 0 1 0 0 0 1
Renal cyst; Pancreatic cysts 0 0 0 1 0 0 0 1
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 0 0 1 0 0 0 1
Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 3 0 0 0 0 1 1
Retinitis pigmentosa 28 0 3 0 1 0 0 0 1
Retinitis pigmentosa 36 0 1 0 0 0 0 1 1
Retinitis pigmentosa 37 0 1 0 1 0 0 0 1
Retinitis pigmentosa 38 0 0 0 0 0 0 1 1
Retinitis pigmentosa 42 0 0 0 1 0 0 0 1
Retinitis pigmentosa 45 0 0 0 1 0 0 0 1
Retinitis pigmentosa 48 0 0 0 0 0 0 1 1
Retinitis pigmentosa 7 0 0 0 1 0 0 0 1
Retinitis pigmentosa, syndromic 0 1 0 0 0 0 1 1
Retinitis punctata albescens 0 2 0 1 0 0 0 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
See cases 0 0 0 1 0 0 0 1
Seizures 0 1 0 0 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
Senior-Loken syndrome 5 0 0 0 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 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 1 0 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 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, autosomal recessive 18 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
Spondylometaphyseal dysplasia axial 0 0 0 1 0 0 0 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 0 1
Tuberous sclerosis 2 0 0 0 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 1 0 0 0 1
USH2A-Related Disorders 0 0 1 1 0 0 0 1
Uniparental disomy, paternal, chromosome 14 0 0 0 1 0 0 0 1
Usher syndrome type 2 0 2 0 1 0 0 1 1
Usher syndrome, type 1C 0 0 1 0 0 0 0 1
Usher syndrome, type 3A 0 1 0 1 0 0 0 1
Usher syndrome; Rare genetic deafness 0 1 1 0 0 0 0 1
Vici syndrome 0 0 0 1 0 0 0 1
Vitamin B2 deficiency 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: 230
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000327.3(ROM1):c.339dup (p.Leu114fs) rs71458427
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
NM_001004334.3(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401
NM_001023570.4(IQCB1):c.1516_1517CA[1] (p.His506fs) rs398123538
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001042432.1(CLN3):c.379del (p.Arg127fs) rs386833717
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595
NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) rs199584830
NM_001142564.1(CNGA1):c.398del (p.Gly133fs) rs527236058
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8153_8154CA[1] (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001145847.2(PROM1):c.1327dup (p.Tyr443fs) rs543698823
NM_001145847.2(PROM1):c.1884+8G>A
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973
NM_001242957.2(MAK):c.814C>T (p.Arg272Ter)
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_003322.6(TULP1):c.1496-6C>A rs281865171
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545
NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) rs879255547
NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) rs368217569
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) rs200826424
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) rs387907136
NM_198310.3(TTC8):c.505-5C>T rs137853922
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201548.4(CERKL):c.769C>T rs121909398
NM_201548.5(CERKL):c.1084_1085TG[1] (p.Cys362_Glu363delinsTer) rs776727320
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124
NM_201548.5(CERKL):c.2T>G (p.Met1Arg)
NM_201548.5(CERKL):c.481+2T>G rs753994107
NM_201548.5(CERKL):c.613+4_613+5del rs766131721
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.3(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
Single allele

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