RP
MCID: RTN008
MIFTS: 86

Retinitis Pigmentosa (RP) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Retinitis Pigmentosa

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NIH Rare Diseases:42 Retinitis pigmentosa (rp) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). rp causes cells in the retina to breakdown and die, eventually resulting in vision loss. the first sign of rp is usually night blindness. as the condition progresses, affected individuals also develop tunnel vision. sometimes rp occurs by itself (isolated rp), and other times it occurs with additional signs and symptoms (syndromic rp). mutations in at least 50 genes have been found to cause rp. there is no cure for rp, however, there are a few treatment options to slow down the progression of the disease. these options include light avoidance, use of low-vision aids, and vitamin a supplementation. last updated: 10/14/2011

MalaCards based summary: Retinitis Pigmentosa, also known as retinitis pigmentosa 1, is related to leber congenital amaurosis and blindness, and has symptoms including abnormality of the testis, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Retinitis Pigmentosa is RP1 (retinitis pigmentosa 1 (autosomal dominant)), and among its related pathways are the visual cycle I (vertebrates) and The phototransduction cascade. The compound vitamin a have been mentioned in the context of this disorder. Affiliated tissues include retina, bone and eye, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:9 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.

Descriptions from OMIM:46 600138, 600132, 603809, 613194, 268000 613582, 268025, 613464, 613767, 612943, 613862, 606068, 602772, 613581, 608380, 609913, 600059, 613769, 613428, 613758, 300029, 615725, 613801, 610359, 612712, 312612, 613827, 300605, 613861, 615922, 609923, 601414, 614181, 615434, 180100, 610599, 613756, 600105, 180105, 610282, 611131, 613750, 614494, 613810, 613575, 600852, 300424, 615780, 607921, 614180, 608133, 613731, 615565, 120970, 613794, 615233, 312600, 601718, 613983, 400004, 180104, 613617, 612572, 612095, 612165, 602594, 180210, 268060, 300155, 613660, 613809, 614500, 604232, 604393, 613341 more

GeneReviews summary for rp-overview

Aliases & Classifications for Retinitis Pigmentosa

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Sources:
31LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 39NCIt, 56SNOMED-CT, 28ICD9CM, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Retinitis Pigmentosa, Aliases & Descriptions:

Name: Retinitis Pigmentosa 31 9 20 42 48 61
Retinitis Pigmentosa 1 10 42 23 46 44 61
Retinitis Pigmentosa 59 10 23 46 61
Cone-Rod Dystrophy 46 11 44 61
Rod-Cone Dystrophy 42 21 23
 
Rp 9 42
Retinitis Pigmentosa Type 59 9
Retinitis Pigmentosa Type 53 9
Retinitis Pigmentosa-1 9
Rp1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
retinitis pigmentosa:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Related Diseases for Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 11 Retinitis Pigmentosa 12
Retinitis Pigmentosa 13 Retinitis Pigmentosa 14
Retinitis Pigmentosa 15 Retinitis Pigmentosa 17
Retinitis Pigmentosa 18 Retinitis Pigmentosa 19
Retinitis Pigmentosa 2, X Linked Retinitis Pigmentosa 20
Retinitis Pigmentosa 22 Retinitis Pigmentosa 23
Retinitis Pigmentosa 24 Retinitis Pigmentosa 25
Retinitis Pigmentosa 26 Retinitis Pigmentosa 28
Retinitis Pigmentosa 29 Retinitis Pigmentosa 3
Retinitis Pigmentosa 30 Retinitis Pigmentosa 31
Retinitis Pigmentosa 32 Retinitis Pigmentosa 33
Retinitis Pigmentosa 34 Retinitis Pigmentosa 35
Retinitis Pigmentosa 36 Retinitis Pigmentosa 4
Retinitis Pigmentosa 41 Retinitis Pigmentosa 6
Retinitis Pigmentosa 7 Retinitis Pigmentosa 9
Prph2-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Crb1-Related Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Crx-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 38
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 49
Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa 43
Retinitis Pigmentosa 62 Retinitis Pigmentosa 48
Retinitis Pigmentosa 63 Retinitis Pigmentosa 42
Retinitis Pigmentosa 10 Retinitis Pigmentosa 64
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 65
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa, Juvenile, Autosomal Recessive Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 45
Retinitis Pigmentosa 57 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 2 Retinitis Pigmentosa Autosomal Recessive

Diseases related to Retinitis Pigmentosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 525)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis31.5RDH12, CRX, AIPL1
2blindness31.4NR2E3, CRX, AIPL1
3rhyns syndrome31.4RDH12, RBP3, NR2E3, CRX, PDE6G, MAK
4retinal degeneration31.2AIPL1, UNC119, PROM1, RDH12, RBP3, NR2E3
5fundus dystrophy30.6AIPL1, BEST1, CRX, RDH12, ARL6
6cone-rod dystrophy 230.5AIPL1, UNC119, CRX
7retinitis11.6
8cone dystrophy11.0
9usher syndrome10.8
10cone-rod dystrophy x-linked 110.8
11cystoid macular edema10.7
12cone-rod dystrophy 310.7
13amelogenesis imperfecta10.7
14neuropathy ataxia retinitis pigmentosa syndrome10.7
15cone-rod dystrophy x-linked 310.6
16newfoundland rod-cone dystrophy10.6
17ataxia10.6
18retinitis pigmentosa 210.6
19posterior column ataxia with retinitis pigmentosa10.6
20cone-rod dystrophy 610.6
21cone-rod dystrophy 1210.6
22cone-rod dystrophy 710.6
23cone-rod dystrophy 1110.6
24cone-rod dystrophy 1610.6
25cone-rod dystrophy 1510.6
26cone-rod dystrophy 1310.6
27cataract10.6
28cone-rod dystrophy 110.6
29microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.6
30stargardt disease10.5
31cone-rod dystrophy10.5
32choroiditis10.5
33choroideremia10.5
34retinitis pigmentosa 310.5
35macular dystrophy10.5
36cone-rod dystrophy x-linked 210.5
37cone-rod dystrophy 810.5
38cone-rod dystrophy 1010.5
39cone-rod dystrophy 1410.5
40cone-rod dystrophy 1710.5
41posterior column ataxia10.5
42night blindness10.5
43muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
44retinitis pigmentosa 1710.4
45retinitis pigmentosa 910.4
46polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
47x-linked intellectual disability-retinitis pigmentosa syndrome10.4
48retinitis pigmentosa autosomal recessive10.4
49megaloblastic anemia10.4
50danon disease10.4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa:



Diseases related to retinitis pigmentosa

Symptoms for Retinitis Pigmentosa

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Symptoms by clinical synopsis from OMIM:

180100

Clinical features from OMIM:

600138, 600132, 603809, 613194, 268000, 613582, 268025, 613464, 613767, 612943 613862, 606068, 602772, 613581, 608380, 609913, 600059, 613769, 613428, 613758, 300029, 615725, 613801, 610359, 612712, 312612, 613827, 300605, 613861, 615922, 609923, 601414, 614181, 615434, 180100, 610599, 613756, 600105, 180105, 610282, 611131, 613750, 614494, 613810, 613575, 600852, 300424, 615780, 607921, 614180, 608133, 613731, 615565, 120970, 613794, 615233, 312600, 601718, 613983, 400004, 180104, 613617, 612572, 612095, 612165, 602594, 180210, 268060, 300155, 613660, 613809, 614500, 604232, 604393, 613341 more

Symptoms:

 48 (show all 29)
  • retinal vascular anomalies/retinal telangiectasia
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • broad nasal root
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • glaucoma
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hyperinsulinism/hyperinsulinemia
  • generalized obesity
  • insulin-independent/type 2 diabetes
  • hypereflexia

HPO human phenotypes related to Retinitis Pigmentosa:

(show all 31)
id Description Frequency HPO Source Accession
1 abnormality of the testis hallmark (90%) HP:0000035
2 conductive hearing impairment hallmark (90%) HP:0000405
3 sensorineural hearing impairment hallmark (90%) HP:0000407
4 wide nasal bridge hallmark (90%) HP:0000431
5 anteverted nares hallmark (90%) HP:0000463
6 visual impairment hallmark (90%) HP:0000505
7 abnormal electroretinogram hallmark (90%) HP:0000512
8 photophobia hallmark (90%) HP:0000613
9 nystagmus hallmark (90%) HP:0000639
10 optic atrophy hallmark (90%) HP:0000648
11 night blindness hallmark (90%) HP:0000662
12 atypical scarring of skin hallmark (90%) HP:0000987
13 abnormal retinal pigmentation hallmark (90%) HP:0007703
14 abnormality of the retinal vasculature hallmark (90%) HP:0008046
15 hypoplasia of penis hallmark (90%) HP:0008736
16 cognitive impairment hallmark (90%) HP:0100543
17 glaucoma typical (50%) HP:0000501
18 cataract typical (50%) HP:0000518
19 ophthalmoparesis typical (50%) HP:0000597
20 hyperinsulinemia typical (50%) HP:0000842
21 obesity typical (50%) HP:0001513
22 decreased corneal thickness typical (50%) HP:0100689
23 hyperreflexia occasional (7.5%) HP:0001347
24 type ii diabetes mellitus occasional (7.5%) HP:0005978
25 cystoid macular edema rare (5%) HP:0011505
26 retinitis pigmentosa HP:0000510
27 night blindness HP:0000662
28 constricted visual fields HP:0001133
29 absent rod-and cone-mediated responses on erg HP:0007688
30 bony spicule pigmentary retinopathy HP:0007737
31 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Retinitis Pigmentosa

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Genetic Tests for Retinitis Pigmentosa

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Genetic tests related to Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy Multi-Gene Panels21
2 Retinitis Pigmentosa 123
3 Retinitis Pigmentosa 5923
4 Cone-Rod Dystrophy23

Anatomical Context for Retinitis Pigmentosa

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MalaCards organs/tissues related to Retinitis Pigmentosa:

32
Retina, Bone, Eye, Testes, Kidney, Skin, Cortex, Thyroid

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
id TissueAnatomical CompartmentCell Relevance
1 EyeOuter Nuclear LayerCone Precursor Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
3 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
4 EyeOuter Nuclear LayerRod Precursor Cells Potential therapeutic candidate, affected by disease

Animal Models for Retinitis Pigmentosa or affiliated genes

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MGI Mouse Phenotypes related to Retinitis Pigmentosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.5CRX, BEST1, PROM1, UNC119
2MP:000539110.3ARL6, AIPL1, UNC119, CLRN1, PROM1, BEST1
3MP:000363110.1PDE6G, PROM1, CLRN1, AIPL1, CRX, NR2E3

Publications for Retinitis Pigmentosa

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Articles related to Retinitis Pigmentosa:

(show top 50)    (show all 1195)
idTitleAuthorsYear
1
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. (24778606)
2014
2
Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule. (25381353)
2014
3
Early-onset X-linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene. (24428633)
2014
4
Comments on Letter to the Editor "Unilateral intravitreal dexamethazone implant for bilateral retinitis pigmentosa-related macular edema". (23996148)
2013
5
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. (23911150)
2013
6
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
7
Comparison between MP-1 and Humphrey visual field defects in glaucoma and retinitis pigmentosa. (22733099)
2012
8
Mutations in the I^-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. (21655355)
2011
9
Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa. (22174574)
2011
10
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. (21174529)
2011
11
Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa - Photographic Documentation over 2 Years of Follow-Up. (21347192)
2011
12
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. (21310491)
2011
13
Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa]. (21914266)
2011
14
Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date. (22131870)
2011
15
The management of "coats' response" in a patient with x-linked retinitis pigmentosa-a case report. (22084788)
2011
16
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (21618346)
2011
17
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. (20238057)
2010
18
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. (20507925)
2010
19
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. (20537394)
2010
20
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. (21069908)
2010
21
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. (19913029)
2010
22
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
23
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. (19710410)
2010
24
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (19520207)
2009
25
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). (18385099)
2008
26
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (18836446)
2008
27
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. (18552978)
2008
28
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (18806796)
2008
29
Weill-Marchesani syndrome associated with retinitis pigmentosa. (17322607)
2007
30
The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan]. (17936999)
2007
31
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
2007
32
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. (17093403)
2006
33
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. (17014888)
2006
34
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. (16935610)
2006
35
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. (16139010)
2005
36
Retinitis pigmentosa in mevalonate kinase deficiency. (16435210)
2005
37
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (15570217)
2004
38
Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide: case report. (15180250)
2003
39
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (12362048)
2002
40
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. (11910130)
2001
41
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (11708883)
2001
42
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. (10711677)
2000
43
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (10192380)
1999
44
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. (9895244)
1998
45
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. (9345108)
1997
46
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. (9070931)
1997
47
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. (9286280)
1997
48
Prevalence of posterior vitreous detachment in retinitis pigmentosa. (7746622)
1995
49
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. (7747760)
1994
50
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1358680)
1992

Variations for Retinitis Pigmentosa

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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa:

63
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139
2AIPL1p.Arg270HisVAR_067165
3DHDDSp.Lys42GluVAR_065356
4RP1p.Asp202GluVAR_064182
5RP1p.Thr373IleVAR_064183rs77775126
6RP1p.Ala669ThrVAR_064468
7RP1p.Asp984GlyVAR_064471
8RP1p.Lys900AsnVAR_066951
9RP1p.Thr2113AsnVAR_066959rs137887415
10RP1p.Leu172ArgVAR_068351rs180729424

Clinvar genetic disease variations for Retinitis Pigmentosa:

7 (show all 323)
id Gene Name Type Significance SNP ID Assembly Location
1KLHL7NM_001031710.2(KLHL7): c.449G> A (p.Ser150Asn)single nucleotide variantPathogenicrs137853112GRCh37Chr 7, 23180394: 23180394
2KLHL7NM_001031710.2(KLHL7): c.458C> T (p.Ala153Val)single nucleotide variantPathogenicrs137853113GRCh37Chr 7, 23180403: 23180403
3C2orf71C2ORF71, TRP253TERsingle nucleotide variantPathogenic
4KLHL7NM_001031710.2(KLHL7): c.457G> A (p.Ala153Thr)single nucleotide variantPathogenicrs137853114GRCh37Chr 7, 23180402: 23180402
5OFD1OFD1, IVS9, A-G, +706single nucleotide variantPathogenic
6C2orf71NM_001029883.2(C2orf71): c.601A> T (p.Ile201Phe)single nucleotide variantPathogenicrs267606690GRCh37Chr 2, 29296527: 29296527
7C2orf71C2ORF71, 1-BP DEL, 946AdeletionPathogenic
8C2orf71NM_001029883.2(C2orf71): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs267606691GRCh37Chr 2, 29296572: 29296572
9C2orf71C2ORF71, 13-BP DEL, NT2756deletionPathogenic
10RP2NM_006915.2(RP2): c.16_18delTCC (p.Ser6del)deletionPathogenicrs137852284GRCh37Chr X, 46696551: 46696553
11RP2NM_006915.2(RP2): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs104894925GRCh37Chr X, 46696611: 46696611
12RP2NM_006915.2(RP2): c.353G> A (p.Arg118His)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
13RP2NM_006915.2(RP2): c.453C> G (p.Tyr151Ter)single nucleotide variantPathogenicrs104894926GRCh37Chr X, 46713261: 46713261
14RP2RP2, 1-BP DELdeletionPathogenic
15RP2NM_006915.2(RP2): c.353G> T (p.Arg118Leu)single nucleotide variantPathogenicrs28933687GRCh37Chr X, 46713161: 46713161
16RP2RP2, 1-BP INS, 303TinsertionPathogenic
17RP2NM_006915.2(RP2): c.358C> T (p.Arg120Ter)single nucleotide variantPathogenicrs104894927GRCh37Chr X, 46713166: 46713166
18PRCDNM_001077620.2(PRCD): c.5G> A (p.Cys2Tyr)single nucleotide variantPathogenicrs121918369GRCh37Chr 17, 74536228: 74536228
19SLC7A14NM_020949.2(SLC7A14): c.988G> A (p.Gly330Arg)single nucleotide variantPathogenicrs2276717GRCh37Chr 3, 170201230: 170201230
20SLC7A14NM_020949.2(SLC7A14): c.2122T> G (p.Phe708Val)single nucleotide variantPathogenicGRCh37Chr 3, 170185037: 170185037
21SLC7A14NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe)single nucleotide variantPathogenicrs79668755GRCh37Chr 3, 170198680: 170198680
22SLC7A14NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val)single nucleotide variantPathogenicGRCh37Chr 3, 170219044: 170219044
23KIZNM_018474.4(KIZ): c.226C> T (p.Arg76Ter)single nucleotide variantPathogenicrs202210819GRCh37Chr 20, 21117104: 21117104
24KIZNM_018474.4(KIZ): c.52G> T (p.Glu18Ter)single nucleotide variantPathogenicGRCh37Chr 20, 21106808: 21106808
25KIZNM_018474.4(KIZ): c.119_122delAACT (p.Lys40Ilefs)deletionPathogenicGRCh37Chr 20, 21112767: 21112770
26RHONM_000539.3(RHO): c.68C> A (p.Pro23His)single nucleotide variantPathogenicrs104893768GRCh37Chr 3, 129247644: 129247644
27RHONM_000539.3(RHO): c.1040C> T (p.Pro347Leu)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
28RHONM_000539.3(RHO): c.1039C> T (p.Pro347Ser)single nucleotide variantPathogenicrs29001637GRCh37Chr 3, 129252553: 129252553
29RHONM_000539.3(RHO): c.173C> G (p.Thr58Arg)single nucleotide variantPathogenicrs28933394GRCh37Chr 3, 129247749: 129247749
30RHORHO, 3-BP DELdeletionPathogenic
31RHONM_000539.3(RHO): c.50C> T (p.Thr17Met)single nucleotide variantPathogenicrs104893769GRCh37Chr 3, 129247626: 129247626
32RHONM_000539.3(RHO): c.133T> C (p.Phe45Leu)single nucleotide variantPathogenicrs104893770GRCh37Chr 3, 129247709: 129247709
33RHONM_000539.3(RHO): c.260T> A (p.Val87Asp)single nucleotide variantPathogenicrs104893771GRCh37Chr 3, 129247836: 129247836
34RHONM_000539.3(RHO): c.266G> A (p.Gly89Asp)single nucleotide variantPathogenicrs104893772GRCh37Chr 3, 129247842: 129247842
35RHONM_000539.3(RHO): c.316G> T (p.Gly106Trp)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
36RHONM_000539.3(RHO): c.568G> A (p.Asp190Asn)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
37RHONM_000539.3(RHO): c.404G> T (p.Arg135Leu)single nucleotide variantPathogenicrs104893774GRCh37Chr 3, 129249761: 129249761
38RHONM_000539.3(RHO): c.533A> G (p.Tyr178Cys)single nucleotide variantPathogenicrs104893776GRCh37Chr 3, 129251096: 129251096
39RHONM_000539.3(RHO): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104893777GRCh37Chr 3, 129251132: 129251132
40RHONM_000539.3(RHO): c.632A> C (p.His211Pro)single nucleotide variantPathogenicrs28933993GRCh37Chr 3, 129251195: 129251195
41RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
42RHONM_000539.3(RHO): c.1030C> T (p.Gln344Ter)single nucleotide variantPathogenicrs104893778GRCh37Chr 3, 129252544: 129252544
43RHONM_000539.3(RHO): c.886A> G (p.Lys296Glu)single nucleotide variantPathogenicrs29001653GRCh37Chr 3, 129251565: 129251565
44RHORHO, 12-BP DEL, EX1deletionPathogenic
45RHONM_000539.3(RHO): c.1040C> G (p.Pro347Arg)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
46RHONM_000539.3(RHO): c.544G> A (p.Gly182Ser)single nucleotide variantPathogenicrs104893780GRCh37Chr 3, 129251107: 129251107
47RHONM_000539.3(RHO): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs104893781GRCh37Chr 3, 129251479: 129251479
48RHONM_000539.3(RHO): c.329G> A (p.Cys110Tyr)single nucleotide variantPathogenicrs104893787GRCh37Chr 3, 129247905: 129247905
49RHONM_000539.3(RHO): c.158C> G (p.Pro53Arg)single nucleotide variantPathogenicrs28933395GRCh37Chr 3, 129247734: 129247734
50RHONM_000539.3(RHO): c.316G> A (p.Gly106Arg)single nucleotide variantPathogenicrs104893773GRCh37Chr 3, 129247892: 129247892
51RHORHO, IVS4, G-T, +1single nucleotide variantPathogenic
52RHONM_000539.3(RHO): c.568G> T (p.Asp190Tyr)single nucleotide variantPathogenicrs104893779GRCh37Chr 3, 129251131: 129251131
53RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
54RHONM_000539.3(RHO): c.620T> G (p.Met207Arg)single nucleotide variantPathogenicrs104893782GRCh37Chr 3, 129251183: 129251183
55RHONM_000539.3(RHO): c.151G> C (p.Gly51Arg)single nucleotide variantPathogenicrs104893792GRCh37Chr 3, 129247727: 129247727
56RHONM_000539.3(RHO): c.341G> A (p.Gly114Asp)single nucleotide variantPathogenicrs104893788GRCh37Chr 3, 129247917: 129247917
57RHONM_000539.3(RHO): c.491C> A (p.Ala164Glu)single nucleotide variantPathogenicrs104893793GRCh37Chr 3, 129249848: 129249848
58RHONM_000539.3(RHO): c.511C> T (p.Pro171Ser)single nucleotide variantPathogenicrs104893794GRCh37Chr 3, 129249868: 129249868
59RHONM_000539.3(RHO): c.790_792delTGC (p.Cys264del)deletionPathogenicrs121918590GRCh37Chr 3, 129251469: 129251471
60RHONM_000539.3(RHO): c.1033G> C (p.Val345Leu)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
61RHONM_000539.3(RHO): c.1040C> A (p.Pro347Gln)single nucleotide variantPathogenicrs29001566GRCh37Chr 3, 129252554: 129252554
62RHONM_000539.3(RHO): c.67C> G (p.Pro23Ala)single nucleotide variantPathogenicrs104893797GRCh37Chr 3, 129247643: 129247643
63RHONM_000539.3(RHO): c.1033G> A (p.Val345Met)single nucleotide variantPathogenicrs104893795GRCh37Chr 3, 129252547: 129252547
64PDE6GPDE6G, IVS3DS, G-T, +1single nucleotide variantPathogenic
65PDE6BNM_000283.3(PDE6B): c.892C> T (p.Gln298Ter)single nucleotide variantPathogenicrs121918579GRCh37Chr 4, 647908: 647908
66PDE6BNM_000283.3(PDE6B): c.1591C> T (p.Arg531Ter)single nucleotide variantPathogenicrs121918580GRCh37Chr 4, 654379: 654379
67PDE6BPDE6B, 1-BP DEL, NT17981deletionPathogenic
68PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
69PDE6BPDE6B, 71-BP DUPduplicationPathogenic
70PDE6BNM_000283.3(PDE6B): c.2419T> A (p.Trp807Arg)single nucleotide variantPathogenicrs121918583GRCh37Chr 4, 661711: 661711
71PDE6ANM_000440.2(PDE6A): c.1749C> G (p.Tyr583Ter)single nucleotide variantPathogenicrs121918576GRCh37Chr 5, 149265917: 149265917
72PDE6ANM_000440.2(PDE6A): c.1032C> A (p.Ser344Arg)single nucleotide variantPathogenicrs121918577GRCh37Chr 5, 149286908: 149286908
73PDE6ANM_000440.2(PDE6A): c.1683G> A (p.Trp561Ter)single nucleotide variantPathogenicrs121918578GRCh37Chr 5, 149274791: 149274791
74RPE65NM_000329.2(RPE65): c.271C> T (p.Arg91Trp)single nucleotide variantPathogenicrs61752871GRCh37Chr 1, 68910541: 68910541
75RPE65NM_000329.2(RPE65): c.1355T> G (p.Val452Gly)single nucleotide variantPathogenicrs62637004GRCh37Chr 1, 68896843: 68896843
76RPE65NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr)single nucleotide variantPathogenicrs121917744GRCh37Chr 1, 68903911: 68903911
77RPE65NM_000329.2(RPE65): c.1022T> C (p.Leu341Ser)single nucleotide variantPathogenicrs61752909GRCh37Chr 1, 68903976: 68903976
78RPE65NM_000329.2(RPE65): c.394G> A (p.Ala132Thr)single nucleotide variantPathogenicrs61752878GRCh37Chr 1, 68910315: 68910315
79RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
80PRPH2NM_000322.4(PRPH2): c.352_354delTGC (p.Cys119del)deletionPathogenicrs121918561GRCh37Chr 6, 42689719: 42689721
81PRPH2NM_000322.4(PRPH2): c.655_657delCCA (p.Pro219del)deletionPathogenicrs121918562GRCh37Chr 6, 42672274: 42672276
82PRPH2NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu)single nucleotide variantPathogenicrs61755806GRCh37Chr 6, 42672284: 42672284
83PRPH2PRPH2, 1-BP DEL, 1160TdeletionPathogenic
84PRPH2NM_000322.4(PRPH2): c.518A> T (p.Asp173Val)single nucleotide variantPathogenicrs61755794GRCh37Chr 6, 42689555: 42689555
85NRLNM_006177.3(NRL): c.148T> A (p.Ser50Thr)single nucleotide variantPathogenicrs104894459GRCh37Chr 14, 24551910: 24551910
86MYO7ANM_000260.3(MYO7A): c.1667G> T (p.Gly556Val)single nucleotide variantLikely pathogenicGRCh38Chr 11, 77162965: 77162965
87PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicGRCh37Chr 4, 652807: 652807
88PDE6BNM_000283.3(PDE6B): c.1576G> A (p.Glu526Lys)single nucleotide variantLikely pathogenicGRCh37Chr 4, 654364: 654364
89PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicGRCh37Chr 4, 654392: 654392
90PDE6BNM_000283.3(PDE6B): c.993-1G> Csingle nucleotide variantLikely pathogenicGRCh37Chr 4, 649728: 649728
91PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicGRCh37Chr 6, 42689663: 42689663
92PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicGRCh37Chr 6, 42689574: 42689574
93ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicGRCh38Chr 11, 62613612: 62613612
94RHONM_000539.3(RHO): c.180C> A (p.Tyr60Ter)single nucleotide variantLikely pathogenicGRCh37Chr 3, 129247756: 129247756
95RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicGRCh37Chr 3, 129249877: 129249877
96RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicGRCh37Chr 3, 129251125: 129251125
97RHONM_000539.3(RHO): c.977_980delACCC (p.Pro327Trpfs)deletionLikely pathogenicGRCh37Chr 3, 129252491: 129252494
98CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicGRCh38Chr 19, 47836335: 47836335
99CRXNM_000554.4(CRX): c.897G> C (p.Leu299Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 47839964: 47839964
100C2orf71NM_001029883.2(C2orf71): c.2126delG (p.Gly709Glufs)deletionLikely pathogenicGRCh37Chr 2, 29295002: 29295002
101C2orf71NM_001029883.2(C2orf71): c.2988dupC (p.Thr997Hisfs)duplicationLikely pathogenicGRCh37Chr 2, 29294140: 29294140
102RPGRNM_001034853.1(RPGR): c.1087_1088insGTAG (p.Val363Glyfs)insertionLikely pathogenicGRCh37Chr X, 38158366: 38158367
103RPGRNM_001034853.1(RPGR): c.1981G> T (p.Glu661Ter)single nucleotide variantLikely pathogenicGRCh37Chr X, 38146271: 38146271
104RPGRNM_000328.2(RPGR): c.894_895delTT (p.Ser298Argfs)deletionLikely pathogenicGRCh37Chr X, 38163927: 38163928
105RPGRNM_001034853.1(RPGR): c.922G> C (p.Ala308Pro)single nucleotide variantLikely pathogenicGRCh37Chr X, 38163900: 38163900
106PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicGRCh37Chr 17, 74536225: 74536225
107NM_001142564.1(CNGA1): c.1046G> A (p.Arg349His)single nucleotide variantLikely pathogenicGRCh37Chr 4, 47939672: 47939672
108NM_001142564.1(CNGA1): c.1196A> G (p.Asp399Gly)single nucleotide variantLikely pathogenicGRCh37Chr 4, 47939522: 47939522
109NM_001142564.1(CNGA1): c.1840G> A (p.Gly614Ser)single nucleotide variantLikely pathogenicGRCh37Chr 4, 47938878: 47938878
110NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs)deletionLikely pathogenicGRCh37Chr 4, 47953415: 47953415
111EYSNM_001142800.1(EYS): c.1345A> T (p.Lys449Ter)single nucleotide variantLikely pathogenicGRCh37Chr 6, 66063465: 66063465
112EYSNM_001142800.1(EYS): c.1750G> T (p.Glu584Ter)single nucleotide variantLikely pathogenicGRCh37Chr 6, 66044889: 66044889
113EYSNM_001142800.1(EYS): c.4387delA (p.Arg1463Glyfs)deletionLikely pathogenicGRCh37Chr 6, 65301373: 65301373
114EYSNM_001142800.1(EYS): c.4402_4403insTCAAGAGG (p.Asp1468Valfs)insertionLikely pathogenicGRCh37Chr 6, 65301357: 65301358
115EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicGRCh38Chr 6, 64590910: 64590910
116EYSNM_001142800.1(EYS): c.5014C> T (p.Gln1672Ter)single nucleotide variantLikely pathogenicGRCh37Chr 6, 65300746: 65300746
117EYSNM_001142800.1(EYS): c.5202_5203delGT (p.Phe1735Glnfs)deletionLikely pathogenicGRCh37Chr 6, 65300557: 65300558
118EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicGRCh37Chr 6, 64791763: 64791763
119EYSNM_001142800.1(EYS): c.7048delT (p.Cys2350Alafs)deletionLikely pathogenicGRCh37Chr 6, 64694283: 64694283
120EYSNM_001142800.1(EYS): c.7694delA (p.Asn2565Metfs)deletionLikely pathogenicGRCh37Chr 6, 64498027: 64498027
121EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicGRCh37Chr 6, 64488004: 64488004
122EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64472506: 64472506
123EYSNM_001142800.1(EYS): c.8012T> A (p.Leu2671Ter)single nucleotide variantLikely pathogenicGRCh37Chr 6, 64472413: 64472413
124EYSNM_001142800.1(EYS): c.8379_8380insTGCA (p.Glu2794Cysfs)insertionLikely pathogenicGRCh37Chr 6, 64431547: 64431548
125EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64431122: 64431122
126EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicGRCh37Chr 6, 64430718: 64430718
127MAKNM_001242385.1(MAK): c.340dupG (p.Ala114Glyfs)duplicationLikely pathogenicGRCh37Chr 6, 10813895: 10813895
128MAKNM_001242385.1(MAK): c.496C> T (p.Arg166Cys)single nucleotide variantLikely pathogenicGRCh37Chr 6, 10804120: 10804120
129MAKNM_001242385.1(MAK): c.553G> A (p.Ala185Thr)single nucleotide variantLikely pathogenicGRCh37Chr 6, 10804063: 10804063
130CNGB1NM_001297.4(CNGB1): c.217+5G> Csingle nucleotide variantLikely pathogenicGRCh38Chr 16, 57964482: 57964482
131CNGB1NM_001297.4(CNGB1): c.2524dupA (p.Thr842Asnfs)duplicationLikely pathogenicGRCh38Chr 16, 57904844: 57904844
132TULP1NM_003322.4(TULP1): c.349G> A (p.Glu117Lys)single nucleotide variantLikely pathogenicGRCh37Chr 6, 35479425: 35479425
133BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicGRCh38Chr 11, 61958194: 61958194
134LRATNM_004744.3(LRAT): c.163C> T (p.Arg55Trp)single nucleotide variantLikely pathogenicGRCh37Chr 4, 155665641: 155665641
135TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicGRCh37Chr 9, 32541966: 32541969
136NRLNM_006177.3(NRL): c.23delT (p.Leu8Argfs)deletionLikely pathogenicGRCh37Chr 14, 24552035: 24552035
137RP1NM_006269.1(RP1): c.1186C> T (p.Arg396Ter)single nucleotide variantLikely pathogenicGRCh37Chr 8, 55537628: 55537628
138RP1NM_006269.1(RP1): c.4876G> A (p.Gly1626Arg)single nucleotide variantLikely pathogenicGRCh37Chr 8, 55541318: 55541318
139RP1NM_006269.1(RP1): c.5797C> T (p.Arg1933Ter)single nucleotide variantLikely pathogenicGRCh37Chr 8, 55542239: 55542239
140RP1NM_006269.1(RP1): c.649delG (p.Gly217Glufs)deletionLikely pathogenicGRCh37Chr 8, 55534710: 55534710
141MERTKNM_006343.2(MERTK): c.1450G> A (p.Gly484Ser)single nucleotide variantLikely pathogenicGRCh37Chr 2, 112751981: 112751981
142MERTKNM_006343.2(MERTK): c.225delA (p.Gly76Glufs)deletionLikely pathogenicGRCh37Chr 2, 112686860: 112686860
143MERTKNM_006343.2(MERTK): c.370C> T (p.Gln124Ter)single nucleotide variantLikely pathogenicGRCh38Chr 2, 111929428: 111929428
144PRPF6NM_012469.3(PRPF6): c.550G> C (p.Asp184His)single nucleotide variantLikely pathogenicGRCh37Chr 20, 62626380: 62626380
145SNRNP200NM_014014.4(SNRNP200): c.1871G> A (p.Arg624Lys)single nucleotide variantLikely pathogenicGRCh37Chr 2, 96959219: 96959219
146SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicGRCh37Chr 2, 96958828: 96958828
147SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicGRCh37Chr 2, 96958823: 96958823
148NR2E3NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys)single nucleotide variantLikely pathogenicGRCh38Chr 15, 71811969: 71811969
149PRPF31NM_015629.3(PRPF31): c.562G> T (p.Glu188Ter)single nucleotide variantLikely pathogenicrs527236094GRCh38Chr 19, 54123783: 54123783
150PRPF31NM_015629.3(PRPF31): c.615C> G (p.Tyr205Ter)single nucleotide variantLikely pathogenicGRCh38Chr 19, 54123836: 54123836
151PRPF31NM_015629.3(PRPF31): c.764A> T (p.Gln255Leu)single nucleotide variantLikely pathogenicrs527236095GRCh38Chr 19, 54124565: 54124565
152IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicGRCh37Chr 3, 100949961: 100949961
153NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicGRCh37Chr 14, 68196025: 68196025
154RP1L1NM_178857.5(RP1L1): c.1972C> T (p.Arg658Ter)single nucleotide variantLikely pathogenicGRCh37Chr 8, 10469636: 10469636
155RP1L1NM_178857.5(RP1L1): c.235C> T (p.Arg79Cys)single nucleotide variantLikely pathogenicGRCh37Chr 8, 10480477: 10480477
156USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicGRCh37Chr 1, 215956121: 215956121
157USH2ANM_206933.2(USH2A): c.13466G> A (p.Gly4489Asp)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215847787: 215847787
158USH2ANM_206933.2(USH2A): c.13847G> T (p.Gly4616Val)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215844600: 215844600
159USH2ANM_206933.2(USH2A): c.14243C> T (p.Ser4748Phe)single nucleotide variantLikely pathogenicGRCh38Chr 1, 215650692: 215650692
160USH2ANM_206933.2(USH2A): c.14450G> A (p.Gly4817Glu)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215822002: 215822002
161USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215807865: 215807865
162USH2ANM_206933.2(USH2A): c.1722_1723insGA (p.Cys575Aspfs)insertionLikely pathogenicGRCh37Chr 1, 216465634: 216465635
163USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicGRCh37Chr 1, 216419934: 216419934
164USH2ANM_206933.2(USH2A): c.490G> T (p.Val164Phe)single nucleotide variantLikely pathogenicGRCh37Chr 1, 216592017: 216592017
165USH2ANM_206933.2(USH2A): c.6399G> A (p.Trp2133Ter)single nucleotide variantLikely pathogenicGRCh37Chr 1, 216173831: 216173831
166USH2ANM_206933.2(USH2A): c.8682delG (p.Arg2894Serfs)deletionLikely pathogenicGRCh37Chr 1, 216040512: 216040512
167USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215972456: 215972456
168IMPDH1NM_000883.3(IMPDH1): c.931G> A (p.Asp311Asn)single nucleotide variantPathogenicrs121912550GRCh37Chr 7, 128038611: 128038611
169IMPDH1NM_000883.3(IMPDH1): c.1057G> A (p.Val353Ile)single nucleotide variantPathogenicrs121912551GRCh37Chr 7, 128038485: 128038485
170IMPDH1NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro)single nucleotide variantPathogenicrs121912552GRCh37Chr 7, 128038616: 128038616
171TOPORSTOPORS, 1-BP INS, 2474AinsertionPathogenic
172TOPORSTOPORS, 2-BP DEL, 2552GAdeletionPathogenic
173NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter)single nucleotide variantPathogenicrs121909599GRCh37Chr 4, 47951911: 47951911
174NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter)single nucleotide variantPathogenicrs121909600GRCh37Chr 4, 47945220: 47945220
175NM_001142564.1(CNGA1): c.1166C> T (p.Ser389Phe)single nucleotide variantPathogenicrs62625014GRCh37Chr 4, 47939552: 47939552
176CNGA1CNGA1, 1-BP DEL, FS655TERdeletionPathogenic
177CA4NM_000717.3(CA4): c.40C> T (p.Arg14Trp)single nucleotide variantPathogenicrs104894559GRCh37Chr 17, 58227435: 58227435
178CA4NM_000717.3(CA4): c.655C> A (p.Arg219Ser)single nucleotide variantPathogenicrs121434551GRCh37Chr 17, 58235718: 58235718
179CA4NM_000717.3(CA4): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs121434552GRCh37Chr 17, 58234014: 58234014
180ARL6ARL6, ARG89VALsingle nucleotide variantPathogenic
181RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
182USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
183USH2ANM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)insertionPathogenicGRCh37Chr 1, 216595438: 216595439
184USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
185CERKLNM_001030311.2(CERKL): c.847C> T (p.Arg283Ter)single nucleotide variantPathogenicrs121909398GRCh37Chr 2, 182423344: 182423344
186TTC8TTC8, IVS1AS, A-G, -2single nucleotide variantPathogenic
187BEST1NM_004183.3(BEST1): c.614T> C (p.Ile205Thr)single nucleotide variantPathogenicrs267606680GRCh37Chr 11, 61724448: 61724448
188BEST1NM_004183.3(BEST1): c.418C> G (p.Leu140Val)single nucleotide variantPathogenicrs267606678GRCh37Chr 11, 61723360: 61723360
189ZNF513NM_144631.5(ZNF513): c.1015T> C (p.Cys339Arg)single nucleotide variantPathogenicrs267607182GRCh37Chr 2, 27601023: 27601023
190FSCN2NM_001077182.2(FSCN2): c.72delG (p.Thr25Glnfs)deletionPathogenicGRCh37Chr 17, 79495629: 79495629
191MAKMAK, 353-BP ALU INS, EX9insertionPathogenic
192MAKMAK, GLY240TERsingle nucleotide variantPathogenic
193MAKNM_001242957.1(MAK): c.388A> C (p.Asn130His)single nucleotide variantPathogenicrs387906646GRCh37Chr 6, 10809146: 10809146
194MAKNM_001242957.1(MAK): c.37G> A (p.Gly13Ser)single nucleotide variantPathogenicrs387906647GRCh37Chr 6, 10830845: 10830845
195MAKNM_001242957.1(MAK): c.497G> A (p.Arg166His)single nucleotide variantPathogenicrs387906648GRCh37Chr 6, 10804119: 10804119
196RPE65NM_000329.2(RPE65): c.1102T> C (p.Tyr368His)single nucleotide variantPathogenicrs62653011GRCh37Chr 1, 68903896: 68903896
197RPE65RPE65, IVS1, G-A, +5single nucleotide variantPathogenic
198PDE6ANM_000440.2(PDE6A): c.2053G> A (p.Val685Met)single nucleotide variantPathogenicrs121909835GRCh37Chr 5, 149263074: 149263074
199CLRN1CLRN1, LEU154TRPsingle nucleotide variantPathogenic
200CLRN1NM_001195794.1(CLRN1): c.92C> T (p.Pro31Leu)single nucleotide variantPathogenicrs374390376GRCh37Chr 3, 150690404: 150690404
201PRPF8NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe)single nucleotide variantPathogenicrs387906971GRCh37Chr 17, 1556852: 1556852
202PRPF8PRPF8, ARG2310SERsingle nucleotide variantPathogenic
203DHDDSNM_024887.3(DHDDS): c.124A> G (p.Lys42Glu)single nucleotide variantPathogenicrs147394623GRCh37Chr 1, 26764719: 26764719
204PRPF6NM_012469.3(PRPF6): c.2185C> T (p.Arg729Trp)single nucleotide variantPathogenicrs387907100GRCh37Chr 20, 62658491: 62658491
205RP9NM_203288.1(RP9): c.509A> G (p.Asp170Gly)single nucleotide variantPathogenicrs104894039GRCh37Chr 7, 33135003: 33135003
206PRPF3NM_004698.2(PRPF3): c.1481C> T (p.Thr494Met)single nucleotide variantPathogenicrs121434241GRCh37Chr 1, 150316692: 150316692
207PRPF3NM_004698.2(PRPF3): c.1477C> T (p.Pro493Ser)single nucleotide variantPathogenicrs121434242GRCh37Chr 1, 150316688: 150316688
208PRPF3NM_004698.2(PRPF3): c.1466C> A (p.Ala489Asp)single nucleotide variantPathogenicrs121434243GRCh37Chr 1, 150316677: 150316677
209PRPF8NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
210PRPF8NM_006445.3(PRPF8): c.6926A> C (p.His2309Pro)single nucleotide variantPathogenicrs121434236GRCh37Chr 17, 1554178: 1554178
211PRPF8NM_006445.3(PRPF8): c.6929G> A (p.Arg2310Lys)single nucleotide variantPathogenicrs121434238GRCh37Chr 17, 1554175: 1554175
212PRPF8NM_006445.3(PRPF8): c.6901C> A (p.Pro2301Thr)single nucleotide variantPathogenicrs121434239GRCh37Chr 17, 1554203: 1554203
213PRPF8NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu)single nucleotide variantPathogenicrs121434240GRCh37Chr 17, 1554192: 1554192
214SEMA4ANM_001193301.1(SEMA4A): c.2138G> A (p.Arg713Gln)single nucleotide variantPathogenicrs41265017GRCh37Chr 1, 156146640: 156146640
215FAM161ANM_001201543.1(FAM161A): c.685C> T (p.Arg229Ter)single nucleotide variantPathogenicrs267606794GRCh37Chr 2, 62067454: 62067454
216IMPG2NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter)single nucleotide variantPathogenicrs267606874GRCh37Chr 3, 100994538: 100994538
217IMPG2IMPG2, 1,850-BP DELdeletionPathogenic
218IMPG2NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter)single nucleotide variantPathogenicrs267606876GRCh37Chr 3, 100962459: 100962459
219IMPG2NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter)single nucleotide variantPathogenicrs267606875GRCh37Chr 3, 100961664: 100961664
220FAM161ANM_001201543.1(FAM161A): c.1309A> T (p.Arg437Ter)single nucleotide variantPathogenicrs200691042GRCh37Chr 2, 62066830: 62066830
221FAM161ANM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs)deletionPathogenicrs397704718GRCh37Chr 2, 62066783: 62066784
222PRCDNM_001077620.2(PRCD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs387907268GRCh37Chr 17, 74536287: 74536287
223MERTKMERTK, 9-KB DELdeletionPathogenic
224MERTKMERTK, IVS1, G-A, +1single nucleotide variantPathogenic
225MERTKMERTK, 91-KB DELdeletionPathogenic
226MERTKNM_006343.2(MERTK): c.2323C> T (p.Arg775Ter)single nucleotide variantPathogenicrs387907314GRCh37Chr 2, 112779132: 112779132
227FAM161ANM_001201543.1(FAM161A): c.1567C> T (p.Arg523Ter)single nucleotide variantPathogenicrs202193201GRCh37Chr 2, 62066572: 62066572
228FAM161ANM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter)single nucleotide variantPathogenicrs267606793GRCh37Chr 2, 62063210: 62063210
229USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
230NRLNM_006177.3(NRL): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs397514516GRCh37Chr 14, 24551771: 24551771
231CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
232SNRNP200NM_014014.4(SNRNP200): c.3269G> T (p.Arg1090Leu)single nucleotide variantPathogenicrs397514574GRCh37Chr 2, 96953697: 96953697
233SNRNP200NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu)single nucleotide variantPathogenicrs397514575GRCh37Chr 2, 96956153: 96956153
234PRPF31NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs)deletionPathogenicGRCh38Chr 19, 54128346: 54128356
235PRPF31NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro)single nucleotide variantPathogenicrs119475042GRCh37Chr 19, 54627246: 54627246
236PRPF31NM_015629.3(PRPF31): c.527+3A> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 54123563: 54123563
237PRPF31PRPF31, IVS6AS, 42-BP DEL, -3deletionPathogenic
238PRPF31NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu)single nucleotide variantPathogenicrs119475043GRCh37Chr 19, 54627181: 54627181
239PRPF31PRPF31, 33-BP INS, NT580insertionPathogenic
240PRPF31PRPF31, 1-BP INS, 769AinsertionPathogenic
241PRPF31PRPF31, 12-BP DELdeletionPathogenic
242PRPF31NM_015629.3(PRPF31): c.1374+654C> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 54130024: 54130024
243USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
244RBP3NM_002900.2(RBP3): c.3238G> A (p.Asp1080Asn)single nucleotide variantPathogenicrs146150511GRCh37Chr 10, 48385854: 48385854
245EYSEYS, 17-BP DEL, NT2710deletionPathogenic
246EYSEYS, EX15-19 DELdeletionPathogenic
247EYSEYS, EX12 DELdeletionPathogenic
248EYSNM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs137853189GRCh37Chr 6, 65146137: 65146137
249EYSNM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter)single nucleotide variantPathogenicrs137853190GRCh37Chr 6, 64430522: 64430522
250EYSEYS, 1-BP DELETION, 6714TdeletionPathogenic
251MERTKMERTK, 5-BP DEL, NT2070deletionPathogenic
252MERTKMERTK, IVS10AS, A-G, -2single nucleotide variantPathogenic
253MERTKNM_006343.2(MERTK): c.1951C> T (p.Arg651Ter)single nucleotide variantPathogenicrs119489105GRCh37Chr 2, 112766043: 112766043
254MERTKMERTK, IVS16DS, G-T, +1single nucleotide variantPathogenic
255IDH3BIDH3B, 1-BP DEL, 589AdeletionPathogenic
256IDH3BNM_006899.3(IDH3B): c.395T> C (p.Leu132Pro)single nucleotide variantPathogenicrs137853020GRCh37Chr 20, 2641558: 2641558
257NR2E3NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)single nucleotide variantPathogenicrs121912631GRCh37Chr 15, 72103870: 72103870
258NR2E3NR2E3, 5-BP DEL, NT1034deletionPathogenic
259AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
260AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
261AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
262PROM1PROM1, 1-BP DEL, 1878GdeletionPathogenic
263PROM1NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter)single nucleotide variantPathogenicrs137853005GRCh37Chr 4, 15995651: 15995651
264CRB1CRB1, ALU INS, NT2320insertionPathogenic
265CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
266CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
267CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
268CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
269CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
270CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
271CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
272CRB1CRB1, 10-BP DEL, NT4121deletionPathogenic
273RP1NM_006269.1(RP1): c.2029C> T (p.Arg677Ter)single nucleotide variantPathogenicrs104894082GRCh37Chr 8, 55538471: 55538471
274RP1RP1, 5-BP DELdeletionPathogenic
275RP1RP1, 4-BP DELdeletionPathogenic
276RP1NM_006269.1(RP1): c.2035C> T (p.Gln679Ter)single nucleotide variantPathogenicrs104894083GRCh37Chr 8, 55538477: 55538477
277RP1NM_006269.1(RP1): c.1118C> T (p.Thr373Ile)single nucleotide variantPathogenicrs77775126GRCh37Chr 8, 55537560: 55537560
278RP1RP1, 4-BP INS, 1461TGAAinsertionPathogenic
279ARL2BPARL2BP, IVS2AS, G-C, -1single nucleotide variantPathogenic
280AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
281AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
282AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
283AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
284AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030
285TULP1NM_003322.4(TULP1): c.1259G> C (p.Arg420Pro)single nucleotide variantPathogenicrs121909073GRCh37Chr 6, 35471400: 35471400
286TULP1NM_003322.4(TULP1): c.1471T> C (p.Phe491Leu)single nucleotide variantPathogenicrs121909074GRCh37Chr 6, 35467782: 35467782
287TULP1NM_003322.4(TULP1): c.1376T> A (p.Ile459Lys)single nucleotide variantPathogenicrs121909075GRCh37Chr 6, 35467877: 35467877
288TULP1TULP1, IVS2DS, G-A, +1single nucleotide variantPathogenic
289TULP1TULP1, IVS14DS, G-A, +1single nucleotide variantPathogenic
290TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
291TULP1NM_003322.4(TULP1): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs121909077GRCh37Chr 6, 35467809: 35467809
292TULP1TULP1, 11-BP DEL, NT1511deletionPathogenic
293TULP1TULP1, IVS7, T-C, +2single nucleotide variantPathogenic
294GUCA1BNM_002098.5(GUCA1B): c.469G> A (p.Gly157Arg)single nucleotide variantPathogenicrs121909124GRCh37Chr 6, 42153424: 42153424
295ABCA4NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs)deletionPathogenicrs387906386GRCh37Chr 1, 94528222: 94528222
296SNRNP200NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu)single nucleotide variantPathogenicrs267607077GRCh37Chr 2, 96953706: 96953706
297CNGB1NM_001297.4(CNGB1): c.2978G> T (p.Gly993Val)single nucleotide variantPathogenicrs121918532GRCh37Chr 16, 57931817: 57931817
298CNGB1CNGB1, IVS32, G-A, +1single nucleotide variantPathogenic
299RPGRNM_001034853.1(RPGR): c.2405_2406delAG (p.Glu802Glyfs)deletionPathogenicrs398122960GRCh37Chr X, 38145846: 38145847
300NEK2NM_001204182.1(NEK2): c.617_624delTGTATGAGinsA (p.Leu206Hisfs)indelPathogenicrs398122961GRCh37Chr 1, 211844558: 211844565
301CERKLNM_001030311.2(CERKL): c.420delT (p.Ile141Leufs)deletionPathogenicrs398122962GRCh37Chr 2, 182468625: 182468625
302CERKLNM_001030311.2(CERKL): c.598A> T (p.Lys200Ter)single nucleotide variantPathogenicrs398122963GRCh37Chr 2, 182438495: 182438495
303CERKLNM_001030311.2(CERKL): c.858delT (p.Pro287Leufs)deletionPathogenicrs398122964GRCh37Chr 2, 182423333: 182423333
304RGRNM_002921.3(RGR): c.196A> C (p.Ser66Arg)single nucleotide variantPathogenicrs104894187GRCh37Chr 10, 86007463: 86007463
305RGRRGR, 1-BP INSinsertionPathogenic
306PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
307RPGRNM_000328.2(RPGR): c.469+1G> Asingle nucleotide variantLikely pathogenicrs62638646GRCh37Chr X, 38178081: 38178081
308RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520
309RPGRNM_000328.2(RPGR): c.389T> G (p.Phe130Cys)single nucleotide variantPathogenicrs62638644GRCh37Chr X, 38178162: 38178162
310RPGRNM_000328.2(RPGR): c.703C> T (p.Pro235Ser)single nucleotide variantPathogenicrs62638651GRCh37Chr X, 38169943: 38169943
311RPGRNM_000328.2(RPGR): c.823G> A (p.Gly275Ser)single nucleotide variantPathogenicrs62642057GRCh37Chr X, 38163999: 38163999
312RPGRRPGR, 4-BP DEL, NT1433deletionPathogenic
313RPGRRPGR, IVS10DS, A-G, +3single nucleotide variantPathogenic
314RPGRNM_000328.2(RPGR): c.179G> T (p.Gly60Val)single nucleotide variantPathogenicrs62638634GRCh37Chr X, 38182174: 38182174
315RPGRRPGR, 2-BP DEL, 652AGdeletionPathogenic
316RPGRRPGR, 2-BP DEL, NT1571deletionPathogenic
317RPGRRPGR, EX15ADELdeletionPathogenic
318RPGRNM_000328.2(RPGR): c.296C> A (p.Thr99Asn)single nucleotide variantPathogenicrs62638637GRCh37Chr X, 38180294: 38180294
319RPGRRPGR, 2-BP DEL, 673AGdeletionPathogenic
320RPGRNM_001034853.1(RPGR): c.2650G> T (p.Glu884Ter)single nucleotide variantPathogenicrs137852549GRCh37Chr X, 38145602: 38145602
321RPGRRPGR, 1-BP INS, 173AinsertionPathogenic
322RPGRRPGR, 912G-Tsingle nucleotide variantPathogenic
323RPGRRPGR, IVS9AS, G-A, -55single nucleotide variantPathogenic

Expression for genes affiliated with Retinitis Pigmentosa

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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa

Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for genes affiliated with Retinitis Pigmentosa

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Compounds for genes affiliated with Retinitis Pigmentosa

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Sources:
44Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a44 25 1212.5RDH12, RBP3, AIPL1

GO Terms for genes affiliated with Retinitis Pigmentosa

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Cellular components related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrosomeGO:00581310.5ARL2BP, OFD1, KIZ, MAK, NEK2, UNC119
2intercellular bridgeGO:04517110.5NEK2, UNC119
3midbodyGO:03049610.4NEK2, MAK, ARL2BP
4photoreceptor inner segmentGO:00191710.4MAK, AIPL1
5photoreceptor outer segmentGO:00175010.1MAK, PROM1

Biological processes related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760110.5ARL6, AIPL1, UNC119, CLRN1, PRCD, BEST1
2phototransductionGO:00760210.5NR2E3, UNC119
3photoreceptor cell maintenanceGO:04549410.5CLRN1, PROM1, MAK, RDH12
4phototransduction, visible lightGO:00760310.5RDH12, RBP3, PDE6G, AIPL1
5response to stimulusGO:05089610.3CLRN1, PRCD, CRX
6spindle assembly involved in mitosisGO:09030710.1OFD1, NEK2

Molecular functions related to Retinitis Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:00371310.4ARL2BP, MAK, PRPF6
2protein bindingGO:00551510.0ARL2BP, AIPL1, UNC119, NEK2, PRPF6, PROM1

Products for genes affiliated with Retinitis Pigmentosa

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Retinitis Pigmentosa

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet