{ "url": "https://dantelabs.com/hu/genes/rpe65", "gene": { "slug": "rpe65", "symbol": "RPE65", "name": "retinoid isomerohydrolase RPE65", "hgnc": "HGNC:10294", "summary": null, "location": "1p31.3", "locusType": "gene with protein product", "aliases": [ "LCA2", "rd12", "BCO3" ], "previousSymbols": [ "RP20" ], "ensemblId": "ENSG00000116745", "entrezId": 6121, "omim": [ "180069" ], "uniprot": [ "Q16518" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 68428822, "end": 68449954, "strand": "-", "ensemblTranscript": "ENST00000262340.6", "refseqTranscript": "NM_000329.3", "ensemblProtein": "ENSP00000262340.5", "refseqProtein": "NP_000320.1", "exons": [ { "start": 68428822, "end": 68429927 }, { "start": 68431065, "end": 68431176 }, { "start": 68431282, "end": 68431376 }, { "start": 68431471, "end": 68431585 }, { "start": 68438187, "end": 68438316 }, { "start": 68438942, "end": 68439081 }, { "start": 68439191, "end": 68439323 }, { "start": 68439561, "end": 68439642 }, { "start": 68440853, "end": 68441000 }, { "start": 68444531, "end": 68444672 }, { "start": 68444776, "end": 68444883 }, { "start": 68446710, "end": 68446860 }, { "start": 68448624, "end": 68448706 }, { "start": 68449895, "end": 68449954 } ], "cds": { "start": 68429776, "end": 68449905 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 68894505, "end": 68915642, "strand": "-" }, "neighbourhood": { "release": "116", "start": 67939388, "end": 68939387, "genes": [ { "symbol": "DIRAS3", "ensemblId": "ENSG00000162595", "biotype": "protein_coding", "start": 68045513, "end": 68051717, "strand": "-", "slug": "diras3" }, { "symbol": "WLS", "ensemblId": "ENSG00000116729", "biotype": "protein_coding", "start": 68095398, "end": 68233120, "strand": "-", "slug": "wls" }, { "symbol": "DEPDC1", "ensemblId": "ENSG00000024526", "biotype": "protein_coding", "start": 68474152, "end": 68497230, "strand": "-", "slug": "depdc1" } ], "truncated": false }, "reports": [ { "slug": "leber-congenital-amaurosis", "name": "Leber Congenital Amaurosis & RPE65-Related Retinopathy", "diseases": [ { "mondoId": "MONDO:0100368", "name": "RPE65-Related Recessive Retinopathy", "genes": 1, "inheritance": "autosomal-recessive", "description": "A retinal dystrophy caused by changes in both copies of RPE65, ranging from Leber congenital amaurosis to early-onset retinitis pigmentosa.", "management": "People with confirmed biallelic RPE65 variants and enough viable retinal cells may be eligible for gene therapy (voretigene neparvovec).", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0100452", "name": "RPE65-Related Dominant Retinopathy", "genes": 1, "inheritance": "autosomal-dominant", "description": "A rarer, later-onset retinal dystrophy caused by a single dominant change in RPE65.", "management": "Regular eye examinations help monitor the retina and support low-vision planning.", "evidence": { "gencc": [ "ClinGen", "Natera", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018998", "name": "Leber Congenital Amaurosis", "genes": 21, "inheritance": "autosomal-recessive", "description": "A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.", "management": "Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": true, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/leber-congenital-amaurosis" }, { "slug": "retinitis-pigmentosa", "name": "Retinitis Pigmentosa", "diseases": [ { "mondoId": "MONDO:0019200", "name": "Retinitis Pigmentosa", "genes": 77, "inheritance": null, "description": "A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": true, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/retinitis-pigmentosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-central-response-of-multifocal-electroretinogram", "name": "Abnormal central response of multifocal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram" }, { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-corneal-endothelium-morphology", "name": "Abnormal corneal endothelium morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-macular-morphology", "name": "Abnormal macular morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-macular-morphology" }, { "slug": "abnormal-optic-disc-morphology", "name": "Abnormal optic disc morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology" }, { "slug": "abnormal-pupillary-light-reflex", "name": "Abnormal pupillary light reflex", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pupillary-light-reflex" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "abnormal-retinal-vascular-morphology", "name": "Abnormality of retina blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology" }, { "slug": "absent-foveal-reflex", "name": "Absent foveal reflex", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-foveal-reflex" }, { "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis", "name": "Aplasia/Hypoplasia of the cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis" }, { "slug": "atrophic-fundus-lesion", "name": "Atrophic fundus lesion", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrophic-fundus-lesion" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "blurred-vision", "name": "Blurred vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blurred-vision" }, { "slug": "keratoconus", "name": "Bulging cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconus" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "chorioretinal-atrophy", "name": "Chorioretinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chorioretinal-atrophy" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "cystoid-macular-edema", "name": "Cystoid macular edema", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cystoid-macular-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "delayed-early-childhood-social-milestone-development", "name": "Delayed social development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-early-childhood-social-milestone-development" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "eye-poking", "name": "Eye poking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eye-poking" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "granular-macular-appearance", "name": "Granular macular appearance", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/granular-macular-appearance" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "macular-pseudocoloboma", "name": "Macular pseudocoloboma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-pseudocoloboma" }, { "slug": "severely-reduced-visual-acuity", "name": "Marked vision impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "nummular-pigmentation-of-the-retina", "name": "Nummular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nummular-pigmentation-of-the-retina" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-drusen", "name": "Optic disc drusen", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-drusen" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "photopsia", "name": "Photopsia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photopsia" }, { "slug": "photoreceptor-outer-segment-loss-on-macular-oct", "name": "Photoreceptor outer segment loss on macular OCT", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "posterior-subcapsular-cataract", "name": "Posterior subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract" }, { "slug": "posterior-synechiae-of-the-anterior-chamber", "name": "Posterior synechiae of the anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posterior-synechiae-of-the-anterior-chamber" }, { "slug": "progressive-night-blindness", "name": "Progressive night blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-night-blindness" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "retinal-detachment", "name": "Retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-detachment" }, { "slug": "retinal-pigment-epithelial-atrophy", "name": "Retinal pigment epithelial atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy" }, { "slug": "retinal-pigment-epithelial-mottling", "name": "Retinal pigment epithelial mottling", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling" }, { "slug": "rhegmatogenous-retinal-detachment", "name": "Rhegmatogenous retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rhegmatogenous-retinal-detachment" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "slow-pupillary-light-response", "name": "Slow pupillary light response", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-pupillary-light-response" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "undetectable-electroretinogram", "name": "Undetectable electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/undetectable-electroretinogram" }, { "slug": "undetectable-light-and-dark-adapted-electroretinogram", "name": "Undetectable light- and dark-adapted electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/undetectable-light-and-dark-adapted-electroretinogram" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "crb1", "symbol": "CRB1", "name": "crumbs cell polarity complex component 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/crb1" }, { "slug": "crx", "symbol": "CRX", "name": "cone-rod homeobox", "shared": 2, "url": "https://dantelabs.com/hu/genes/crx" }, { "slug": "impdh1", "symbol": "IMPDH1", "name": "inosine monophosphate dehydrogenase 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/impdh1" }, { "slug": "prph2", "symbol": "PRPH2", "name": "peripherin 2", "shared": 2, "url": "https://dantelabs.com/hu/genes/prph2" }, { "slug": "rdh12", "symbol": "RDH12", "name": "retinol dehydrogenase 12", "shared": 2, "url": "https://dantelabs.com/hu/genes/rdh12" }, { "slug": "rom1", "symbol": "ROM1", "name": "retinal outer segment membrane protein 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/rom1" }, { "slug": "spata7", "symbol": "SPATA7", "name": "spermatogenesis associated 7", "shared": 2, "url": "https://dantelabs.com/hu/genes/spata7" }, { "slug": "tulp1", "symbol": "TULP1", "name": "TUB like protein 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/tulp1" }, { "slug": "abca4", "symbol": "ABCA4", "name": "ATP binding cassette subfamily A member 4", "shared": 1, "url": "https://dantelabs.com/hu/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/hu/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/hu/genes/ahr" }, { "slug": "aipl1", "symbol": "AIPL1", "name": "AIP like 1 HSP90 co-chaperone", "shared": 1, "url": "https://dantelabs.com/hu/genes/aipl1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 190, "url": "https://dantelabs.com/genes/rpe65/variants", "items": [ { "slug": "a145d", "name": "A145D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.434C>A", "position": 68444592, "grch37Position": 68910275, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/a145d" }, { "slug": "a145p", "name": "A145P", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.433G>C", "position": 68444593, "grch37Position": 68910276, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/a145p" }, { "slug": "a179v", "name": "A179V", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.536C>T", "position": 68440960, "grch37Position": 68906643, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/a179v" }, { "slug": "a214sfs20", "name": "A214Sfs*20", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.639dup", "position": 68440856, "grch37Position": 68906539, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/a214sfs20" }, { "slug": "a360p", "name": "A360P", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1078G>C", "position": 68438237, "grch37Position": 68903920, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/a360p" }, { "slug": "a415v", "name": "A415V", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1244C>T", "position": 68431376, "grch37Position": 68897059, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/a415v" }, { "slug": "a434e", "name": "A434E", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1301C>A", "position": 68431319, "grch37Position": 68897002, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/a434e" }, { "slug": "c-2t-c", "name": "c.2T>C", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 68449904, "grch37Position": 68915587, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-2t-c" }, { "slug": "c-11plus5g-a", "name": "c.11+5G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68449890, "grch37Position": 68915573, "part": { "kind": "intron", "number": 1 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-11plus5g-a" }, { "slug": "c-95-2a-t", "name": "c.95-2A>T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68446862, "grch37Position": 68912545, "part": { "kind": "intron", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-95-2a-t" }, { "slug": "c-246-11a-g", "name": "c.246-11A>G", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 68444894, "grch37Position": 68910577, "part": { "kind": "intron", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-246-11a-g" }, { "slug": "c-354-2a-g", "name": "c.354-2A>G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68444674, "grch37Position": 68910357, "part": { "kind": "intron", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-354-2a-g" }, { "slug": "c-495plus1to495plus2insg", "name": "c.495+1_495+2insG", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68444529, "grch37Position": 68910212, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-495plus1to495plus2insg" }, { "slug": "c-496-1g-a", "name": "c.496-1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68441001, "grch37Position": 68906684, "part": { "kind": "intron", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-496-1g-a" }, { "slug": "c-675c-a", "name": "c.675C>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68439611, "grch37Position": 68905294, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-675c-a" }, { "slug": "c-726-2a-c", "name": "c.726-2A>C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68439325, "grch37Position": 68905008, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-726-2a-c" }, { "slug": "c-726-2a-t", "name": "c.726-2A>T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68439325, "grch37Position": 68905008, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-726-2a-t" }, { "slug": "c-825c-a", "name": "c.825C>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68439224, "grch37Position": 68904907, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-825c-a" }, { "slug": "c-912c-a", "name": "c.912C>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68439028, "grch37Position": 68904711, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-912c-a" }, { "slug": "c-998plus1g-a", "name": "c.998+1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68438941, "grch37Position": 68904624, "part": { "kind": "intron", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-998plus1g-a" }, { "slug": "c-1101a-g", "name": "c.1101A>G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68438214, "grch37Position": 68903897, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1101a-g" }, { "slug": "c-1129-2a-g", "name": "c.1129-2A>G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68431587, "grch37Position": 68897270, "part": { "kind": "intron", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1129-2a-g" }, { "slug": "c-1243plus1g-a", "name": "c.1243+1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68431470, "grch37Position": 68897153, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1243plus1g-a" }, { "slug": "c-1243plus1g-c", "name": "c.1243+1G>C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68431470, "grch37Position": 68897153, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1243plus1g-c" }, { "slug": "c-1243plus2t-a", "name": "c.1243+2T>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68431469, "grch37Position": 68897152, "part": { "kind": "intron", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1243plus2t-a" }, { "slug": "c-1338plus1g-a", "name": "c.1338+1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68431281, "grch37Position": 68896964, "part": { "kind": "intron", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1338plus1g-a" }, { "slug": "c-1451-1g-a", "name": "c.1451-1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 68429928, "grch37Position": 68895611, "part": { "kind": "intron", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1451-1g-a" }, { "slug": "c330y", "name": "C330Y", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.989G>A", "position": 68438951, "grch37Position": 68904634, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/c330y" }, { "slug": "d110g", "name": "D110G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.329A>G", "position": 68444800, "grch37Position": 68910483, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/d110g" }, { "slug": "d167y", "name": "D167Y", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.499G>T", "position": 68440997, "grch37Position": 68906680, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/d167y" }, { "slug": "d218ifs3", "name": "D218Ifs*3", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.651del", "position": 68439634, "grch37Position": 68905317, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/d218ifs3" }, { "slug": "d482g", "name": "D482G", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1445A>G", "position": 68431070, "grch37Position": 68896753, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/d482g" }, { "slug": "d482n", "name": "D482N", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1444G>A", "position": 68431071, "grch37Position": 68896754, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/d482n" }, { "slug": "e6x", "name": "E6X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.16G>T", "position": 68448702, "grch37Position": 68914385, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/e6x" }, { "slug": "e102x", "name": "E102X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.304G>T", "position": 68444825, "grch37Position": 68910508, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/e102x" }, { "slug": "e148d", "name": "E148D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.444G>T", "position": 68444582, "grch37Position": 68910265, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/e148d" }, { "slug": "e148dfs8", "name": "E148Dfs*8", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.444_445del", "position": 68444580, "grch37Position": 68910263, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/e148dfs8" }, { "slug": "e254d", "name": "E254D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.762G>T", "position": 68439287, "grch37Position": 68904970, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/e254d" }, { "slug": "e404afs4", "name": "E404Afs*4", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1207_1210dup", "position": 68431503, "grch37Position": 68897186, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/e404afs4" }, { "slug": "e404lfs4", "name": "E404Lfs*4", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1209_1210insCTGG", "position": 68431504, "grch37Position": 68897187, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/e404lfs4" }, { "slug": "e417q", "name": "E417Q", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1249G>C", "position": 68431371, "grch37Position": 68897054, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/e417q" }, { "slug": "e481del", "name": "E481del", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1443_1445del", "position": 68431069, "grch37Position": 68896752, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/e481del" }, { "slug": "f16s", "name": "F16S", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.47T>C", "position": 68448671, "grch37Position": 68914354, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/f16s" }, { "slug": "f72s", "name": "F72S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.215T>C", "position": 68446740, "grch37Position": 68912423, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/f72s" }, { "slug": "f252s", "name": "F252S", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.755T>C", "position": 68439294, "grch37Position": 68904977, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/f252s" }, { "slug": "f418y", "name": "F418Y", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1253T>A", "position": 68431367, "grch37Position": 68897050, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/f418y" }, { "slug": "f530l", "name": "F530L", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1590C>A", "position": 68429788, "grch37Position": 68895471, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/f530l" }, { "slug": "f530lfs40", "name": "F530Lfs*40", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1590del", "position": 68429787, "grch37Position": 68895470, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/f530lfs40" }, { "slug": "g40d", "name": "G40D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.119G>A", "position": 68446836, "grch37Position": 68912519, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/g40d" }, { "slug": "g40s", "name": "G40S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.118G>A", "position": 68446837, "grch37Position": 68912520, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/g40s" }, { "slug": "g46e", "name": "G46E", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.137G>A", "position": 68446818, "grch37Position": 68912501, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/g46e" }, { "slug": "g48e", "name": "G48E", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.143G>A", "position": 68446812, "grch37Position": 68912495, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/g48e" }, { "slug": "g104d", "name": "G104D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.311G>A", "position": 68444818, "grch37Position": 68910501, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/g104d" }, { "slug": "g104r", "name": "G104R", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.310G>C", "position": 68444819, "grch37Position": 68910502, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/g104r" }, { "slug": "g104v", "name": "G104V", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.311G>T", "position": 68444818, "grch37Position": 68910501, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/g104v" }, { "slug": "g140e", "name": "G140E", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.419G>A", "position": 68444607, "grch37Position": 68910290, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/g140e" }, { "slug": "g187e", "name": "G187E", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.560G>A", "position": 68440936, "grch37Position": 68906619, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/g187e" }, { "slug": "g333r", "name": "G333R", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.997G>C", "position": 68438943, "grch37Position": 68904626, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/g333r" }, { "slug": "g428mfs5", "name": "G428Mfs*5", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1282_1303del", "position": 68431316, "grch37Position": 68896999, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/g428mfs5" }, { "slug": "g484d", "name": "G484D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1451G>A", "position": 68429927, "grch37Position": 68895610, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/g484d" }, { "slug": "g484v", "name": "G484V", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1451G>T", "position": 68429927, "grch37Position": 68895610, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/g484v" }, { "slug": "g528v", "name": "G528V", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1583G>T", "position": 68429795, "grch37Position": 68895478, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/g528v" }, { "slug": "h68y", "name": "H68Y", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.202C>T", "position": 68446753, "grch37Position": 68912436, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/h68y" }, { "slug": "h182r", "name": "H182R", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.545A>G", "position": 68440951, "grch37Position": 68906634, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/h182r" }, { "slug": "h182y", "name": "H182Y", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.544C>T", "position": 68440952, "grch37Position": 68906635, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/h182y" }, { "slug": "h313r", "name": "H313R", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.938A>G", "position": 68439002, "grch37Position": 68904685, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/h313r" }, { "slug": "h527p", "name": "H527P", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1580A>C", "position": 68429798, "grch37Position": 68895481, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/h527p" }, { "slug": "h527r", "name": "H527R", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1580A>G", "position": 68429798, "grch37Position": 68895481, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/h527r" }, { "slug": "h527y", "name": "H527Y", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1579C>T", "position": 68429799, "grch37Position": 68895482, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/h527y" }, { "slug": "i98hfs26", "name": "I98Hfs*26", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.292_311del", "position": 68444817, "grch37Position": 68910500, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/i98hfs26" }, { "slug": "i206cfs27", "name": "I206Cfs*27", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.615_616del", "position": 68440879, "grch37Position": 68906562, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/i206cfs27" }, { "slug": "i206t", "name": "I206T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.617T>C", "position": 68440879, "grch37Position": 68906562, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/i206t" }, { "slug": "k295x", "name": "K295X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.883A>T", "position": 68439057, "grch37Position": 68904740, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/k295x" }, { "slug": "k298sfs27", "name": "K298Sfs*27", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.893del", "position": 68439046, "grch37Position": 68904729, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/k298sfs27" }, { "slug": "k303x", "name": "K303X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.907A>T", "position": 68439033, "grch37Position": 68904716, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/k303x" }, { "slug": "k354efs11", "name": "K354Efs*11", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1059dup", "position": 68438255, "grch37Position": 68903938, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/k354efs11" }, { "slug": "l22p", "name": "L22P", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.65T>C", "position": 68448653, "grch37Position": 68914336, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/l22p" }, { "slug": "l36sfs58", "name": "L36Sfs*58", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.106del", "position": 68446848, "grch37Position": 68912531, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/l36sfs58" }, { "slug": "l42f", "name": "L42F", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.124C>T", "position": 68446831, "grch37Position": 68912514, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/l42f" }, { "slug": "l67r", "name": "L67R", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.200T>G", "position": 68446755, "grch37Position": 68912438, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/l67r" }, { "slug": "l328f", "name": "L328F", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.982C>T", "position": 68438958, "grch37Position": 68904641, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/l328f" }, { "slug": "l341s", "name": "L341S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1022T>C", "position": 68438293, "grch37Position": 68903976, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/l341s" }, { "slug": "l372x", "name": "L372X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1115del", "position": 68438199, "grch37Position": 68903882, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/l372x" }, { "slug": "l383x", "name": "L383X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1148T>G", "position": 68431566, "grch37Position": 68897249, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/l383x" }, { "slug": "l487efs25", "name": "L487Efs*25", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1459_1460del", "position": 68429917, "grch37Position": 68895600, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/l487efs25" }, { "slug": "m285wfs40", "name": "M285Wfs*40", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.852del", "position": 68439196, "grch37Position": 68904879, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/m285wfs40" }, { "slug": "n131k", "name": "N131K", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.393T>A", "position": 68444633, "grch37Position": 68910316, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/n131k" }, { "slug": "n191d", "name": "N191D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.571A>G", "position": 68440925, "grch37Position": 68906608, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/n191d" }, { "slug": "n199kfs35", "name": "N199Kfs*35", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.596dup", "position": 68440899, "grch37Position": 68906582, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/n199kfs35" }, { "slug": "n260qfs18", "name": "N260Qfs*18", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.778_785del", "position": 68439263, "grch37Position": 68904946, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/n260qfs18" }, { "slug": "n302kfs17", "name": "N302Kfs*17", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.906_907del", "position": 68439032, "grch37Position": 68904715, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/n302kfs17" }, { "slug": "n321kfs15", "name": "N321Kfs*15", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.962dup", "position": 68438977, "grch37Position": 68904660, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/n321kfs15" }, { "slug": "n356kfs9", "name": "N356Kfs*9", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1067dup", "position": 68438247, "grch37Position": 68903930, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/n356kfs9" }, { "slug": "n356mfs17", "name": "N356Mfs*17", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1067del", "position": 68438247, "grch37Position": 68903930, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/n356mfs17" }, { "slug": "p25l", "name": "P25L", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.74C>T", "position": 68448644, "grch37Position": 68914327, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/p25l" }, { "slug": "p47qfs47", "name": "P47Qfs*47", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.138del", "position": 68446816, "grch37Position": 68912499, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/p47qfs47" }, { "slug": "p111s", "name": "P111S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.331C>T", "position": 68444798, "grch37Position": 68910481, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/p111s" }, { "slug": "p111t", "name": "P111T", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.331C>A", "position": 68444798, "grch37Position": 68910481, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/p111t" }, { "slug": "p363h", "name": "P363H", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1088C>A", "position": 68438227, "grch37Position": 68903910, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/p363h" }, { "slug": "p363r", "name": "P363R", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1088C>G", "position": 68438227, "grch37Position": 68903910, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/p363r" }, { "slug": "p363t", "name": "P363T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1087C>A", "position": 68438228, "grch37Position": 68903911, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/p363t" }, { "slug": "p467a", "name": "P467A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1399C>G", "position": 68431116, "grch37Position": 68896799, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/p467a" }, { "slug": "p467s", "name": "P467S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1399C>T", "position": 68431116, "grch37Position": 68896799, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/p467s" }, { "slug": "p467tfs20", "name": "P467Tfs*20", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1396_1397dup", "position": 68431117, "grch37Position": 68896800, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/p467tfs20" }, { "slug": "p470l", "name": "P470L", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1409C>T", "position": 68431106, "grch37Position": 68896789, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/p470l" }, { "slug": "q4x", "name": "Q4X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.10C>T", "position": 68449896, "grch37Position": 68915579, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/rpe65/variants/q4x" }, { "slug": "q64x", "name": "Q64X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.190C>T", "position": 68446765, "grch37Position": 68912448, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/q64x" }, { "slug": "q362x", "name": "Q362X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1084C>T", "position": 68438231, "grch37Position": 68903914, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/q362x" }, { "slug": "r44q", "name": "R44Q", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.131G>A", "position": 68446824, "grch37Position": 68912507, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/r44q" }, { "slug": "r44x", "name": "R44X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.130C>T", "position": 68446825, "grch37Position": 68912508, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/r44x" }, { "slug": "r81i", "name": "R81I", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.242G>T", "position": 68446713, "grch37Position": 68912396, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/r81i" }, { "slug": "r91p", "name": "R91P", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.272G>C", "position": 68444857, "grch37Position": 68910540, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/r91p" }, { "slug": "r91q", "name": "R91Q", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.272G>A", "position": 68444857, "grch37Position": 68910540, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/r91q" }, { "slug": "r91w", "name": "R91W", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.271C>T", "position": 68444858, "grch37Position": 68910541, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/r91w" }, { "slug": "r118s", "name": "R118S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.354G>T", "position": 68444672, "grch37Position": 68910355, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/r118s" }, { "slug": "r124x", "name": "R124X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.370C>T", "position": 68444656, "grch37Position": 68910339, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/r124x" }, { "slug": "r234x", "name": "R234X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.700C>T", "position": 68439586, "grch37Position": 68905269, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/r234x" }, { "slug": "r296kfs7", "name": "R296Kfs*7", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.886dup", "position": 68439053, "grch37Position": 68904736, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/r296kfs7" }, { "slug": "r347c", "name": "R347C", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1039C>T", "position": 68438276, "grch37Position": 68903959, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/r347c" }, { "slug": "r347h", "name": "R347H", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1040G>A", "position": 68438275, "grch37Position": 68903958, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/r347h" }, { "slug": "r446kfs4", "name": "R446Kfs*4", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1336dup", "position": 68431283, "grch37Position": 68896966, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/r446kfs4" }, { "slug": "r446s", "name": "R446S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1338G>T", "position": 68431282, "grch37Position": 68896965, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/r446s" }, { "slug": "r515w", "name": "R515W", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1543C>T", "position": 68429835, "grch37Position": 68895518, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/r515w" }, { "slug": "s121ffs10", "name": "S121Ffs*10", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.361dup", "position": 68444664, "grch37Position": 68910347, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/s121ffs10" }, { "slug": "s121lfs6", "name": "S121Lfs*6", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.361del", "position": 68444664, "grch37Position": 68910347, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/s121lfs6" }, { "slug": "s269-l270delinsmepx", "name": "S269_L270delinsMEPX", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.806_809delinsTGGAGCCATGAAG", "position": 68439240, "grch37Position": 68904923, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/s269-l270delinsmepx" }, { "slug": "s488r", "name": "S488R", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1464T>A", "position": 68429914, "grch37Position": 68895597, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/s488r" }, { "slug": "s533ifs30", "name": "S533Ifs*30", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1596dup", "position": 68429781, "grch37Position": 68895464, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/s533ifs30" }, { "slug": "t31nfs21", "name": "T31Nfs*21", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.89dup", "position": 68448628, "grch37Position": 68914311, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/t31nfs21" }, { "slug": "t101i", "name": "T101I", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.302C>T", "position": 68444827, "grch37Position": 68910510, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/t101i" }, { "slug": "t147rfs9", "name": "T147Rfs*9", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.440_441del", "position": 68444584, "grch37Position": 68910267, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/t147rfs9" }, { "slug": "t162p", "name": "T162P", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.484A>C", "position": 68444542, "grch37Position": 68910225, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/t162p" }, { "slug": "t246i", "name": "T246I", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.737C>T", "position": 68439312, "grch37Position": 68904995, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/t246i" }, { "slug": "t306i", "name": "T306I", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.917C>T", "position": 68439023, "grch37Position": 68904706, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/t306i" }, { "slug": "t454lfs32", "name": "T454Lfs*32", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1360del", "position": 68431154, "grch37Position": 68896837, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/t454lfs32" }, { "slug": "v19m", "name": "V19M", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.55G>A", "position": 68448663, "grch37Position": 68914346, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/v19m" }, { "slug": "v172d", "name": "V172D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.515T>A", "position": 68440981, "grch37Position": 68906664, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/v172d" }, { "slug": "v257g", "name": "V257G", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.770T>G", "position": 68439279, "grch37Position": 68904962, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/v257g" }, { "slug": "v287f", "name": "V287F", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.859G>T", "position": 68439081, "grch37Position": 68904764, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/v287f" }, { "slug": "v287ffs38", "name": "V287Ffs*38", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.859del", "position": 68439080, "grch37Position": 68904763, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/v287ffs38" }, { "slug": "v443a", "name": "V443A", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1328T>C", "position": 68431292, "grch37Position": 68896975, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/v443a" }, { "slug": "v452g", "name": "V452G", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1355T>G", "position": 68431160, "grch37Position": 68896843, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/v452g" }, { "slug": "v473d", "name": "V473D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1418T>A", "position": 68431097, "grch37Position": 68896780, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/v473d" }, { "slug": "w331dup", "name": "W331dup", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.991_993dup", "position": 68438946, "grch37Position": 68904629, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/w331dup" }, { "slug": "w331x", "name": "W331X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.993G>A", "position": 68438947, "grch37Position": 68904630, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/w331x" }, { "slug": "w402cfs6", "name": "W402Cfs*6", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1205_1206insCCTG", "position": 68431508, "grch37Position": 68897191, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/w402cfs6" }, { "slug": "w402x", "name": "W402X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1205G>A", "position": 68431509, "grch37Position": 68897192, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/w402x" }, { "slug": "w460x", "name": "W460X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1380G>A", "position": 68431135, "grch37Position": 68896818, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/w460x" }, { "slug": "y79h", "name": "Y79H", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.235T>C", "position": 68446720, "grch37Position": 68912403, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/rpe65/variants/y79h" }, { "slug": "y122x", "name": "Y122X", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.366C>A", "position": 68444660, "grch37Position": 68910343, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/y122x" }, { "slug": "y144d", "name": "Y144D", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.430T>G", "position": 68444596, "grch37Position": 68910279, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/y144d" }, { "slug": "y239d", "name": "Y239D", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.715T>G", "position": 68439571, "grch37Position": 68905254, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/y239d" }, { "slug": "y318n", "name": "Y318N", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.952T>A", "position": 68438988, "grch37Position": 68904671, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/y318n" }, { "slug": "y368c", "name": "Y368C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1103A>G", "position": 68438212, "grch37Position": 68903895, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/y368c" }, { "slug": "y368h", "name": "Y368H", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1102T>C", "position": 68438213, "grch37Position": 68903896, "part": { "kind": "exon", "number": 10 }, "url": "https://dantelabs.com/genes/rpe65/variants/y368h" }, { "slug": "y431c", "name": "Y431C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1292A>G", "position": 68431328, "grch37Position": 68897011, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/y431c" }, { "slug": "y431h", "name": "Y431H", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1291T>C", "position": 68431329, "grch37Position": 68897012, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/y431h" }, { "slug": "y466x", "name": "Y466X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1398C>A", "position": 68431117, "grch37Position": 68896800, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/y466x" }, { "slug": "y501pfs10", "name": "Y501Pfs*10", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1501_1505del", "position": 68429872, "grch37Position": 68895555, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/y501pfs10" }, { "slug": "y501x", "name": "Y501X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1503T>G", "position": 68429875, "grch37Position": 68895558, "part": { "kind": "exon", "number": 14 }, "url": "https://dantelabs.com/genes/rpe65/variants/y501x" }, { "slug": "a415t", "name": "A415T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1243G>A", "position": 68431471, "grch37Position": 68897154, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/a415t" }, { "slug": "c-11plus2t-g", "name": "c.11+2T>G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 68449893, "grch37Position": 68915576, "part": { "kind": "intron", "number": 1 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-11plus2t-g" }, { "slug": "c-643plus2t-a", "name": "c.643+2T>A", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 2, "hgvsC": null, "position": 68440851, "grch37Position": 68906534, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-643plus2t-a" }, { "slug": "c-644-2a-g", "name": "c.644-2A>G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 68439644, "grch37Position": 68905327, "part": { "kind": "intron", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-644-2a-g" }, { "slug": "c-725plus1g-a", "name": "c.725+1G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": null, "position": 68439560, "grch37Position": 68905243, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-725plus1g-a" }, { "slug": "c-725plus2t-a", "name": "c.725+2T>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 68439559, "grch37Position": 68905242, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-725plus2t-a" }, { "slug": "c-858plus1del", "name": "c.858+1del", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 68439189, "grch37Position": 68904872, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-858plus1del" }, { "slug": "c-858plus1g-t", "name": "c.858+1G>T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 68439190, "grch37Position": 68904873, "part": { "kind": "intron", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-858plus1g-t" }, { "slug": "c-992g-a", "name": "c.992G>A", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 68438948, "grch37Position": 68904631, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-992g-a" }, { "slug": "c-1451-2del", "name": "c.1451-2del", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": null, "position": 68429928, "grch37Position": 68895611, "part": { "kind": "intron", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/c-1451-2del" }, { "slug": "d477g", "name": "D477G", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1430A>G", "position": 68431085, "grch37Position": 68896768, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/d477g" }, { "slug": "e21nfs10", "name": "E21Nfs*10", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.61del", "position": 68448656, "grch37Position": 68914339, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/e21nfs10" }, { "slug": "e224dfs9", "name": "E224Dfs*9", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.672_673del", "position": 68439612, "grch37Position": 68905295, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/e224dfs9" }, { "slug": "e417g", "name": "E417G", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.1250A>G", "position": 68431370, "grch37Position": 68897053, "part": { "kind": "exon", "number": 12 }, "url": "https://dantelabs.com/genes/rpe65/variants/e417g" }, { "slug": "e462x", "name": "E462X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1384G>T", "position": 68431131, "grch37Position": 68896814, "part": { "kind": "exon", "number": 13 }, "url": "https://dantelabs.com/genes/rpe65/variants/e462x" }, { "slug": "f16kfs14", "name": "F16Kfs*14", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.46_49del", "position": 68448668, "grch37Position": 68914351, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/f16kfs14" }, { "slug": "g32c", "name": "G32C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.94G>T", "position": 68448624, "grch37Position": 68914307, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/rpe65/variants/g32c" }, { "slug": "g104s", "name": "G104S", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.310G>A", "position": 68444819, "grch37Position": 68910502, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/g104s" }, { "slug": "i115t", "name": "I115T", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.344T>C", "position": 68444785, "grch37Position": 68910468, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/rpe65/variants/i115t" }, { "slug": "l408p", "name": "L408P", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1223T>C", "position": 68431491, "grch37Position": 68897174, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rpe65/variants/l408p" }, { "slug": "q4rfs27", "name": "Q4Rfs*27", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.10del", "position": 68449895, "grch37Position": 68915578, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/rpe65/variants/q4rfs27" }, { "slug": "q165x", "name": "Q165X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.493C>T", "position": 68444533, "grch37Position": 68910216, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/q165x" }, { "slug": "q213x", "name": "Q213X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.637C>T", "position": 68440859, "grch37Position": 68906542, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/rpe65/variants/q213x" }, { "slug": "r296gfs29", "name": "R296Gfs*29", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.886del", "position": 68439053, "grch37Position": 68904736, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/r296gfs29" }, { "slug": "v240f", "name": "V240F", "commonName": null, "symbol": "RPE65", "classification": "likely-pathogenic", "stars": 2, "hgvsC": "c.718G>T", "position": 68439568, "grch37Position": 68905251, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/rpe65/variants/v240f" }, { "slug": "y137x", "name": "Y137X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.411C>A", "position": 68444615, "grch37Position": 68910298, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/y137x" }, { "slug": "y144x", "name": "Y144X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.432C>G", "position": 68444594, "grch37Position": 68910277, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/rpe65/variants/y144x" }, { "slug": "y249c", "name": "Y249C", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.746A>G", "position": 68439303, "grch37Position": 68904986, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/y249c" }, { "slug": "y275x", "name": "Y275X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic", "stars": 2, "hgvsC": "c.825C>G", "position": 68439224, "grch37Position": 68904907, "part": { "kind": "exon", "number": 8 }, "url": "https://dantelabs.com/genes/rpe65/variants/y275x" }, { "slug": "y304x", "name": "Y304X", "commonName": null, "symbol": "RPE65", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.912C>G", "position": 68439028, "grch37Position": 68904711, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rpe65/variants/y304x" } ] } }