ClinVar Miner

List of variants studied for retinal disorder by Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University

Included ClinVar conditions (500):

ABCA4-related retinopathy
ABri amyloidosis; ADan amyloidosis; Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
AICA-ribosiduria
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia with metatarsal shortening; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa
Achromatopsia 4
Achromatopsia 5
Achromatopsia 6
Achromatopsia 7
Adult-onset foveomacular vitelliform dystrophy
Age related macular degeneration 1
Age related macular degeneration 11
Age related macular degeneration 12
Age related macular degeneration 14
Age related macular degeneration 2
Age related macular degeneration 4
Age related macular degeneration 6
Age related macular degeneration 7
Age related macular degeneration 8
Age related macular degeneration 9
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency
Age-related macular degeneration
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma
Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Asphyxiating thoracic dystrophy 1; Retinitis pigmentosa 71
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram
Atrophia bulborum hereditaria
Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency
Autism; Global developmental delay; Cone dystrophy
Autism; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76
Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55
Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
Basal laminar drusen
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4
Benign concentric annular macular dystrophy
Benign concentric annular macular dystrophy; Cobalamin C disease
Bietti crystalline corneoretinal dystrophy
Blindness; Night blindness; Retinal pigment epithelial atrophy; Macular dystrophy; Optic disc drusen
Blurred vision; Night blindness; Peripheral visual field loss
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
Bothnia retinal dystrophy
Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal dystrophy
Brachydactyly; Polydactyly, postaxial, type A1; Syndactyly; Retinal degeneration
Bradyopsia
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
CONE-ROD DYSTROPHY, AIPL1-RELATED
Cataract; Microphthalmia; Retinal dystrophy; Microcephaly; Congenital nephrotic syndrome
Cataract; Nystagmus; Retinal dystrophy; High myopia
Central areolar choroidal dystrophy
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Cerebroretinal microangiopathy with calcifications and cysts 3
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13; Spinal muscular atrophy with lower extremity predominance
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Chorioretinal atrophy; Night blindness
Choroidal dystrophy, central areolar 2
Choroidal dystrophy, central areolar, 1
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i
Choroideremia
Coats plus syndrome
Color vision defect; Macular degeneration; Photophobia
Complement component 2 deficiency; Age related macular degeneration 14
Complete trisomy 13 syndrome
Cone dystrophy
Cone dystrophy 1, X-linked
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy 4; Achromatopsia
Cone dystrophy 5, X-linked
Cone dystrophy with supernormal rod response
Cone dystrophy; Retinal pigment epithelial atrophy
Cone monochromatism
Cone-rod dystrophy
Cone-rod dystrophy 10
Cone-rod dystrophy 10; Retinitis pigmentosa 35
Cone-rod dystrophy 11
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 13; Leber congenital amaurosis 6
Cone-rod dystrophy 14
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 19
Cone-rod dystrophy 2
Cone-rod dystrophy 20
Cone-rod dystrophy 21
Cone-rod dystrophy 22
Cone-rod dystrophy 23
Cone-rod dystrophy 24
Cone-rod dystrophy 3
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19
Cone-rod dystrophy 3; Retinitis pigmentosa 19; Age-related macular degeneration
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy 6; Leber congenital amaurosis 1
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod synaptic disorder, congenital nonprogressive
Congenital blindness; Abnormality of vision; Abnormal electroretinogram; Retinal degeneration
Congenital contractural arachnodactyly; Macular degeneration, early-onset
Congenital stationary night blindness
Congenital stationary night blindness 1A
Congenital stationary night blindness 1B
Congenital stationary night blindness 1C
Congenital stationary night blindness 1D
Congenital stationary night blindness 1E
Congenital stationary night blindness 1F
Congenital stationary night blindness 1G
Congenital stationary night blindness 1H
Congenital stationary night blindness 2A
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1; Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 3
Congenital stationary night blindness autosomal dominant 3; Congenital stationary night blindness 1G
Coronary heart disease, susceptibility to, 1; Susceptibility to HIV infection; Age related macular degeneration 12
Corpus callosum, agenesis of; Retinal degeneration; Primary amenorrhea; Hepatic steatosis; Severe hearing impairment
Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate
Deficiency of ferroxidase
Diabetic retinopathy
Doyne honeycomb retinal dystrophy
Dyneinopathy
EEM syndrome
EEM syndrome; Congenital hypotrichosis with juvenile macular dystrophy
Enhanced S-cone syndrome
Enhanced S-cone syndrome; NR2E3-related disorder
Enhanced S-cone syndrome; Retinitis pigmentosa 37
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Exudative retinopathy
Exudative retinopathy; Cerebellar ataxia; Dystonic disorder; Abnormal facial shape
Exudative retinopathy; Familial exudative vitreoretinopathy
Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1; Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Exudative vitreoretinopathy 2, X-linked
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Exudative vitreoretinopathy 5
Exudative vitreoretinopathy 6
Exudative vitreoretinopathy 6; Retinitis pigmentosa 72
Exudative vitreoretinopathy 7
Familial benign flecked retina
Familial exudative vitreoretinopathy
Familial retinal arterial macroaneurysm
Foveal hypoplasia 1
Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis
Fundus dystrophy, pseudoinflammatory, recessive form
GUCY2D retinopathy
Glaucoma, primary closed-angle; Knobloch syndrome 1
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severely reduced visual acuity; Developmental regression; Gastrointestinal dysmotility
Global developmental delay; Retinal disorder; Cleft palate
Global developmental delay; Retinal dystrophy; High myopia
Global developmental delay; Vitreoretinopathy; Cleft palate
Goldmann-Favre syndrome
Helicoid peripapillary chorioretinal degeneration
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1
Hereditary cerebral amyloid angiopathy, Icelandic type; Age related macular degeneration 11
Hereditary retinoblastoma
Hoyeraal-Hreidarsson syndrome; Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3
Hyperornithinemia
Hypertelorism; Inguinal hernia; Abnormal sternum morphology; Myopia; Retinal dystrophy; Joint laxity
Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47
Incontinentia pigmenti syndrome
Infantile cerebellar-retinal degeneration
Infantile cerebellar-retinal degeneration; Optic atrophy 9
Intellectual disability, autosomal dominant 13
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Isolated macular dystrophy
Joubert syndrome 35; Retinitis pigmentosa 83
Juvenile retinoschisis
Juvenile retinoschisis; Macular schisis; Peripheral schisis
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4
Knobloch syndrome
Knobloch syndrome 1
Knobloch syndrome 2
Late-onset retinal degeneration
Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 10; Meckel syndrome, type 4; Joubert syndrome 5; Renal dysplasia and retinal aplasia
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 14; Retinitis pigmentosa
Leber congenital amaurosis 15
Leber congenital amaurosis 15; Leber congenital amaurosis
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18
Leber congenital amaurosis 19
Leber congenital amaurosis 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20
Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 4; Retinitis pigmentosa
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 6; Meckel syndrome, type 1
Leber congenital amaurosis 7
Leber congenital amaurosis 7; Cone-rod dystrophy 2
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis with early-onset deafness
Macular corneal dystrophy
Macular degeneration
Macular degeneration, X-linked atrophic
Macular degeneration, age-related, 3
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2; Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Macular degeneration, age-related, neovascular type
Macular degeneration, early-onset
Macular dystrophy with central cone involvement
Macular dystrophy with or without cone dysfunction
Macular dystrophy, retinal
Macular dystrophy, retinal, 4
Marshall syndrome; Stickler syndrome type 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Microcephaly and chorioretinopathy 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcornea-myopic chorioretinal atrophy
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73
Multifocal pattern dystrophy simulating fundus flavimaculatus
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76
Muscular dystrophy; Leber congenital amaurosis
Myopia; Retinal dystrophy; Optic disc pallor; Intellectual disability; Joint laxity; Mild hearing impairment
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement
Newfoundland cone-rod dystrophy
Night blindness
Night blindness, congenital stationary, type1i
North Carolina macular dystrophy
Occult macular dystrophy
Occult macular dystrophy; Retinitis pigmentosa 88
Ocular albinism, type II
Ocular albinism, type II; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A
Oguchi disease
Oguchi disease-1
Oguchi disease-2
Ornithine aminotransferase deficiency
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10
Osteoporosis with pseudoglioma
PCARE-related retinopathy
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1
Patterned macular dystrophy 2
Patterned macular dystrophy 3
Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous, autosomal recessive
Persistent hyperplastic primary vitreous; Nystagmus; Short lingual frenulum; High myopia
Pigmentary retinal dystrophy
Pigmentary retinopathy; Macular degeneration; Blurred vision; Abnormality of retinal pigmentation
Pigmented paravenous retinochoroidal atrophy
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
Posterior column ataxia-retinitis pigmentosa syndrome
Progressive bifocal chorioretinal atrophy
Progressive bifocal chorioretinal atrophy; North Carolina macular dystrophy
Progressive retinal dystrophy due to retinol transport defect
Proliferative vitreoretinopathy
Prolonged electroretinal response suppression 1
Prolonged electroretinal response suppression 2
RCBTB1-related retinopathy
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
RPE65-related recessive retinopathy
RPGR-related retinopathy
Renal hypomagnesemia 5 with ocular involvement
Retinal cone dystrophy 3A
Retinal cone dystrophy 4
Retinal degeneration
Retinal detachment
Retinal detachment; Lattice retinal degeneration
Retinal detachment; Visual impairment; Rod-cone dystrophy; Central scotoma; Blurred vision
Retinal disorder
Retinal disorder; Cleft palate
Retinal disorder; Neurodevelopmental disorder
Retinal dystrophy
Retinal dystrophy and obesity
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy, early-onset severe
Retinal dystrophy; Hearing loss
Retinal dystrophy; Macular degeneration; Postaxial hand polydactyly; Intellectual disability; Foot polydactyly; High-frequency hearing impairment
Retinal dystrophy; Retinal degeneration
Retinal macular dystrophy type 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 10; Leber congenital amaurosis 11
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 12; Leber congenital amaurosis 8
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 14; Leber congenital amaurosis 15
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 20; Leber congenital amaurosis; RPE65-related disorder
Retinitis pigmentosa 23
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 3
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 32
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2
Retinitis pigmentosa 41; Retinal macular dystrophy type 2
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 47; Oguchi disease-1
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8
Retinitis pigmentosa 53
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 56; Vitelliform macular dystrophy 5
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 59; Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa 6
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 64
Retinitis pigmentosa 65
Retinitis pigmentosa 66
Retinitis pigmentosa 67
Retinitis pigmentosa 68
Retinitis pigmentosa 69
Retinitis pigmentosa 7
Retinitis pigmentosa 70
Retinitis pigmentosa 71
Retinitis pigmentosa 72
Retinitis pigmentosa 73
Retinitis pigmentosa 74
Retinitis pigmentosa 75
Retinitis pigmentosa 76
Retinitis pigmentosa 77
Retinitis pigmentosa 78
Retinitis pigmentosa 79
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Retinitis pigmentosa 83
Retinitis pigmentosa 84
Retinitis pigmentosa 85
Retinitis pigmentosa 86
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 88
Retinitis pigmentosa 9
Retinitis pigmentosa 90
Retinitis pigmentosa 92
Retinitis pigmentosa 93
Retinitis pigmentosa 94, variable age at onset
Retinitis pigmentosa 95
Retinitis pigmentosa 97
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa; Cone-rod dystrophy 16; Bardet-biedl syndrome 21
Retinitis pigmentosa; Congenital stationary night blindness
Retinitis pigmentosa; Hereditary sensory and autonomic neuropathy
Retinitis pigmentosa; Leber congenital amaurosis
Retinitis pigmentosa; Leber congenital amaurosis 7; Cone-rod dystrophy 2
Retinitis pigmentosa; Retinitis pigmentosa 49
Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A
Retinitis pigmentosa; Retinitis pigmentosa 66
Retinitis pigmentosa; Retinitis punctata albescens
Retinitis pigmentosa; Usher syndrome type 3A
Retinitis punctata albescens
Retinoblastoma
Retinopathy of prematurity
Retinoschisis
Revesz syndrome
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3
Saldino-Mainzer syndrome; Retinitis pigmentosa 80
Sensorineural hearing loss disorder; Cone-rod dystrophy
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy; Stargardt disease
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20
Snowflake vitreoretinal degeneration
Sorsby fundus dystrophy
Spinocerebellar ataxia type 34; Stargardt disease 3; Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Spondylo-ocular syndrome
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Stargardt disease
Stargardt disease 3
Stargardt disease 4
Stargardt disease 4; Cone-rod dystrophy 12; Retinal macular dystrophy type 2
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2
Stargardt disease; Cone-rod dystrophy
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, IIa 6
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Susceptibility to neovascular type of age-related macular degeneration
Trilateral retinoblastoma
Usher syndrome type 2A; Retinitis pigmentosa 39
Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy
Visual impairment; Retinal disorder
Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus
Visual impairment; Retinal dystrophy; Retinal pigment epithelial atrophy
Visual loss; Blindness; Macular degeneration
Vitelliform macular dystrophy
Vitelliform macular dystrophy 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17
Vitelliform macular dystrophy 1; Vitelliform macular dystrophy 4
Vitelliform macular dystrophy 2
Vitelliform macular dystrophy 3
Vitelliform macular dystrophy 4
Vitelliform macular dystrophy 5
Vitreoretinopathy
Wagner syndrome
X-linked cone-rod dystrophy
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 3
X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A
X-linked congenital stationary night blindness
cone dystrophy with supernormal rod electroretinogram

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004744.5(LRAT):c.578G>T (p.Arg193Ile)

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