MCID: USH001
MIFTS: 55

Usher Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Usher Syndrome

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MedlinePlus:32 Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. it is the most common condition that affects both hearing and vision. there are three types of usher syndrome: people with type i are deaf from birth and have severe balance problems from a young age. vision problems usually start by age 10 and lead to blindness. people with type ii have moderate to severe hearing loss and normal balance. vision problems start in the early teens and get worse more slowly than in type i. people with type iii are born with normal hearing and near-normal balance but develop vision problems and then hearing loss. there is no cure. tools such as hearing aids or cochlear implants can help some people. training such as braille instruction, low-vision services, or auditory training can also help. nih: national institute on deafness and other communication disorders

MalaCards based summary: Usher Syndrome, also known as dystrophia retinae pigmentosa-dysostosis syndrome, is related to usher syndrome, type 2a and usher syndrome, type 1b, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome is USH2A (Usher syndrome 2A (autosomal recessive, mild)). Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Disease Ontology:9 A syndrome characterized by a combination of hearing loss and visual impairment.

NIH Rare Diseases:41 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

Genetics Home Reference:21 Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however.

Wikipedia:63 Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of 10 genes... more...

Aliases & Classifications for Usher Syndrome

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Sources:
9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Usher Syndrome, Aliases & Descriptions:

Name: Usher Syndrome 9 63 41 21 11 43 47 32 60
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 63 41 21
Retinitis Pigmentosa-Deafness Syndrome 63 41 21
Deafness-Retinitis Pigmentosa Syndrome 63 41 21
Retinitis Pigmentosa - Deafness 41 47 22
Graefe-Usher Syndrome 63 41 21
Hallgren Syndrome 63 41 21
 
Usher's Syndrome 41 20 21
Ush 41 47
Retinitis Pigmentosa 21, Formerly 41
Retinitis Pigmentosa 8, Formerly 41
Rp21, Formerly 41
Rp8, Formerly 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
usher syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0050439
MeSH33 D052245
Orphanet47 886
MESH via Orphanet34 D052245
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0271097

Related Diseases for Usher Syndrome

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Diseases in the Usher Syndrome family:

Usher Syndrome, Type Ik Usher Syndrome, Type Ij
Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type 1d
Usher Syndrome, Type 1f Usher Syndrome, Type 1c
Usher Syndrome, Type 1b Usher Syndrome, Type 1g
Usher Syndrome Type Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

Diseases related to Usher Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a31.6GPR98, DFNB31, USH2A
2usher syndrome, type 1b31.5USH1C, CDH23, PCDH15, MYO7A, USH1G
3usher syndrome, type 1d31.5PCDH15, CDH23
4nonsyndromic deafness30.7USH1C, CDH23, PCDH15, MYO7A, DFNB31
5retinal degeneration30.6USH1C, CDH23, MYO7A, USH2A
6blindness30.5MYO7A, PCDH15
7sensorineural hearing loss30.3USH2A, MYO7A
8retinitis pigmentosa autosomal recessive29.7GPR98, DFNB31, USH1C, CDH23, PDC, PCDH15
9usher syndrome type ii10.8
10retinitis10.8
11usher syndrome, type 1c10.7
12usher syndrome, type 3a10.7
13usher syndrome, type 2c10.7
14usher syndrome, type 1f10.6
15retinitis pigmentosa10.6
16usher syndrome, type 2d10.6
17usher syndrome type 3b10.5
18usher syndrome, type 1g10.5
19pemphigus10.5
20usher syndrome, type ik10.4
21usher syndrome, type ij10.4
22usher syndrome type 1j10.4
23pemphigus erythematosus10.4
24retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.4
25usher syndrome, type 2b10.4
26dfnb110.3MYO7A
27retinal disease10.3
28uveitis10.3
29choroideremia10.3
30usher syndrome type 1h10.3
31usher syndrome type 1k10.3
32fuchs' heterochromic uveitis10.2
33lupus erythematosus10.2
34alstrom syndrome10.2
35schizophrenia10.0
36asthma10.0
37charge syndrome10.0
38bipolar disorder10.0
39cataract10.0
40leber congenital amaurosis10.0
41pemphigus foliaceus10.0
42bardet-biedl syndrome10.0
43bronchiectasis10.0
44neuronitis10.0
45macular holes10.0
46hyperinsulinism10.0
47adenoma10.0
48dermatitis10.0
49dermatitis herpetiformis10.0
50factitious disorder10.0

Graphical network of the top 20 diseases related to Usher Syndrome:



Diseases related to usher syndrome

Symptoms for Usher Syndrome

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Symptoms:

 47 (show all 32)
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • myopia
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • astigmatism
  • nystagmus
  • complete/partial microdontia
  • enamel anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • tinnitus
  • hyperacusia
  • cardiomyopathy/hypertrophic/dilated
  • functional anomalies of the cardio-circulatory system
  • sterility/hypofertility
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography

HPO human phenotypes related to Usher Syndrome:

(show all 27)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 night blindness hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 abnormal retinal pigmentation hallmark (90%) HP:0007703
7 cataract typical (50%) HP:0000518
8 hypermetropia typical (50%) HP:0000540
9 myopia typical (50%) HP:0000545
10 incoordination typical (50%) HP:0002311
11 cognitive impairment typical (50%) HP:0100543
12 decreased fertility occasional (7.5%) HP:0000144
13 tinnitus occasional (7.5%) HP:0000360
14 astigmatism occasional (7.5%) HP:0000483
15 nystagmus occasional (7.5%) HP:0000639
16 carious teeth occasional (7.5%) HP:0000670
17 abnormality of dental enamel occasional (7.5%) HP:0000682
18 microdontia occasional (7.5%) HP:0000691
19 hallucinations occasional (7.5%) HP:0000738
20 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
21 cerebral cortical atrophy occasional (7.5%) HP:0002120
22 myopathy occasional (7.5%) HP:0003198
23 emg abnormality occasional (7.5%) HP:0003457
24 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
25 hyperacusis occasional (7.5%) HP:0010780
26 abnormality of cardiovascular system physiology occasional (7.5%) HP:0011025
27 abnormality of dental color occasional (7.5%) HP:0011073

Drugs & Therapeutics for Usher Syndrome

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Drug clinical trials:

Search ClinicalTrials for Usher Syndrome

Search NIH Clinical Center for Usher Syndrome

Genetic Tests for Usher Syndrome

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Genetic tests related to Usher Syndrome:

id Genetic test Affiliating Genes
1 Usher Syndrome Multi-Gene Panels20
2 Retinitis Pigmentosa-Deafness Syndrome22

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

31
Retina, Eye, Cerebellum, Bone

Animal Models for Usher Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.8MYO7A, CDH23, DFNB31, USH1C
2MP:00053779.1CDH23, GPR98, USH1C, USH1G, USH2A, DFNB31
3MP:00053868.9DFNB31, CDH23, GPR98, USH1C, USH1G, MYO7A
4MP:00053918.7GPR98, PDC, PCDH15, MYO7A, CLRN1, DFNB31
5MP:00036318.6CDH23, PDC, PCDH15, MYO7A, DFNB31, USH2A

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50)    (show all 387)
idTitleAuthorsYear
1
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. (25333064)
2014
2
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. (24334608)
2014
3
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. (25324289)
2014
4
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
5
Nongranulomatous anterior uveitis in a patient with Usher syndrome. (24371428)
2013
6
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. (23237960)
2013
7
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
2012
8
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (22690115)
2012
9
Usher syndrome. (22314473)
2012
10
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
11
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. (21593743)
2011
12
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
13
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. (21686329)
2011
14
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. (21675857)
2011
15
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
16
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
17
Usher syndrome type 1: early detection of electroretinographic changes. (19006676)
2009
18
Update on Usher syndrome. (19165952)
2009
19
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
20
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. (19414487)
2009
21
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. (18058117)
2008
22
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. (18484607)
2008
23
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
24
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
2007
25
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. (16545802)
2006
26
Molecular genetic study of Usher syndrome in Spain]. (16240916)
2005
27
Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. (15952048)
2005
28
Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. (15236894)
2004
29
Genetic heterogeneity in Usher syndrome. (15368488)
2004
30
Mutational spectrum in Usher syndrome type II. (15025721)
2004
31
Kinetics of visual field loss in Usher syndrome Type II. (14985291)
2004
32
Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude. (15180256)
2003
33
Usher syndrome and cochlear implantation. (12621335)
2003
34
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
35
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (12145752)
2002
36
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (11060213)
2000
37
Early diagnosis of Usher syndrome in children. (11190026)
2000
38
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (10930322)
2000
39
The usher syndromes. (10704190)
1999
40
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
41
Epidemiology of Usher syndrome in Valencia and Spain. (15178965)
1998
42
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. (9718356)
1998
43
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. (9212179)
1997
44
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
45
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
46
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. (8474110)
1993
47
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. (1427898)
1992
48
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. (1478676)
1992
49
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1978628)
1990
50
A case for diagnosis (lupus erythematosus with superimposed Senear-Usher syndrome). (20277314)
1946

Variations for Usher Syndrome

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Clinvar genetic disease variations for Usher Syndrome:

6 (show all 245)
id Gene Variation Type Significance SNP ID Assembly Location
1MYO7ANM_000260.3(MYO7A): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs121965079GRCh37Chr 11, 76867115: 76867115
2MYO7ANM_000260.3(MYO7A): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs41298133GRCh37Chr 11, 76868015: 76868015
3MYO7ANM_000260.3(MYO7A): c.635G> A (p.Arg212His)single nucleotide variantPathogenicrs28934610GRCh37Chr 11, 76867950: 76867950
4USH2ANM_206933.2(USH2A): c.7475C> A (p.Ser2492Ter)single nucleotide variantLikely pathogenicrs483353056GRCh37Chr 1, 216073536: 216073536
5GPR98NM_032119.3(GPR98): c.12403+1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 5, 90774304: 90774304
6GPR98NM_032119.3(GPR98): c.15736C> T (p.Arg5246Ter)single nucleotide variantLikely pathogenicGRCh38Chr 5, 90810996: 90810996
7GPR98NM_032119.3(GPR98): c.7006C> T (p.Arg2336Ter)single nucleotide variantLikely pathogenicGRCh38Chr 5, 90692659: 90692659
8USH2ANM_206933.2(USH2A): c.11156G> A (p.Arg3719His)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215933077: 215933077
9USH2ANM_206933.2(USH2A): c.12079C> T (p.Gln4027Ter)single nucleotide variantLikely pathogenicGRCh37Chr 1, 215853706: 215853706
10USH2ANM_206933.2(USH2A): c.13010C> T (p.Thr4337Met)single nucleotide variantPathogenicGRCh37Chr 1, 215848243: 215848243
11USH2ANM_206933.2(USH2A): c.2983C> T (p.Gln995Ter)single nucleotide variantPathogenicGRCh37Chr 1, 216405305: 216405305
12USH2ANM_206933.2(USH2A): c.3967delA (p.Met1323Terfs)deletionLikely pathogenicGRCh37Chr 1, 216371771: 216371771
13USH2AUSH2A, 1-BP DEL, 2299GdeletionPathogenic
14USH2AUSH2A, 1-BP DEL, 2898GdeletionPathogenic
15USH2AUSH2A, 2-BP DEL, 4338CTdeletionPathogenic
16USH2ANM_206933.2(USH2A): c.779T> G (p.Leu260Ter)single nucleotide variantPathogenicrs121912598GRCh37Chr 1, 216538300: 216538300
17USH2ANM_206933.2(USH2A): c.956G> A (p.Cys319Tyr)single nucleotide variantPathogenicrs121912599GRCh37Chr 1, 216498834: 216498834
18USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
19USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)single nucleotide variantPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
20USH2AUSH2A, 949C-A, ARG317ARGsingle nucleotide variantPathogenic
21USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)single nucleotide variantPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
22USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)single nucleotide variantPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
23DFNB31NM_015404.3(DFNB31): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs137852840GRCh37Chr 9, 117266775: 117266775
24DFNB31WHRN, IVS2DS, G-A, +1single nucleotide variantPathogenic
25USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
26USH1GUSH1G, 2-BP DEL, 186CAdeletionPathogenic
27USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
28USH1GUSH1G, 1-BP INS, 393GinsertionPathogenic
29USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
30HARSNM_002109.5(HARS): c.1361A> C (p.Tyr454Ser)single nucleotide variantPathogenicrs387906639GRCh37Chr 5, 140054361: 140054361
31USH2AUSH2A, IVS40AS, A-G, -2144single nucleotide variantPathogenic
32USH2AUSH2A, 1-BP DUP, 3129TduplicationPathogenic
33USH2AUSH2A, 1-BP DUP, 8890TduplicationPathogenic
34PDZD7NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs)duplicationrisk factorGRCh37Chr 10, 102789811: 102789811
35USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
36DFNB31WHRN, 1-BP DEL, 737CdeletionPathogenic
37DFNB31WHRN, 1-BP INS, 680GinsertionPathogenic
38USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
39USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
40USH1CUSH1C, IVS16, G-T, -1single nucleotide variantPathogenic
41USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
42CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
43MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
44MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
45MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
46MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantLikely pathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
47MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
48MYO7ANM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln)insertionLikely pathogenicrs111033219GRCh37Chr 11, 76873225: 76873226
49MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
50MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
51MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
52MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
53MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
54MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
55MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
56MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
57MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
58MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
59MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
60MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
61MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
62MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
63MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
64MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
65MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
66MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
67MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
68MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
69MYO7ANM_000260.3(MYO7A): c.3544_3545insCA (p.Asn1182Thrfs)insertionLikely pathogenicrs111033390GRCh37Chr 11, 76900429: 76900430
70MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
71MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
72MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
73MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901163
74MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
75MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
76MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867065
77MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
78MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
79MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
80MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
81MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
82MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
83MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
84MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
85MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
86MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
87MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
88MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914145
89MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
90MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
91MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916608
92MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
93MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
94MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantLikely pathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
95MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
96MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
97MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
98MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
99MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
100MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
101MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
102MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
103MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
104MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
105MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
106MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
107MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
108MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
109MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
110MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
111CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)single nucleotide variantPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
112CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)single nucleotide variantPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
113CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenic
114CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
115CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)single nucleotide variantPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
116CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
117CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenic
118CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)single nucleotide variantPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378
119DFNB31NM_015404.3(DFNB31): c.1267C> T (p.Arg423Ter)single nucleotide variantPathogenicrs397517255GRCh37Chr 9, 117186763: 117186763
120DFNB31NM_015404.3(DFNB31): c.643delG (p.Val215Cysfs)deletionPathogenicrs397517258GRCh37Chr 9, 117241027: 117241027
121CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
122NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
123NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
124NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
125CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
126CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
127CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
128CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
129CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
130CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
131CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
132CDH23NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser)single nucleotide variantLikely pathogenicrs183431253GRCh37Chr 10, 73550170: 73550170
133CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
134CDH23NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs)deletionLikely pathogenicrs111033473GRCh37Chr 10, 73553097: 73553097
135CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
136CDH23NM_022124.5(CDH23): c.7362G> A (p.Thr2454=)single nucleotide variantLikely pathogenicrs370983472GRCh37Chr 10, 73559386: 73559386
137CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
138CDH23NM_022124.5(CDH23): c.7823G> A (p.Arg2608His)single nucleotide variantLikely pathogenicrs202052174GRCh37Chr 10, 73563128: 73563128
139CDH23NM_022124.5(CDH23): c.7921G> C (p.Asp2641His)single nucleotide variantLikely pathogenicrs397517354GRCh37Chr 10, 73565611: 73565611
140CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
141CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
142GPR98NM_032119.3(GPR98): c.10229_10231dupTGG (p.Val3410_Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
143GPR98NM_032119.3(GPR98): c.11253C> G (p.Tyr3751Ter)single nucleotide variantPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
144GPR98NM_032119.3(GPR98): c.14973-2A> Gsingle nucleotide variantPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
145GPR98NM_032119.3(GPR98): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
146GPR98NM_032119.3(GPR98): c.2398C> T (p.Arg800Ter)single nucleotide variantPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
147GPR98NM_032119.3(GPR98): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940659
148GPR98NM_032119.3(GPR98): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
149GPR98NM_032119.3(GPR98): c.7406G> A (p.Trp2469Ter)single nucleotide variantPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
150GPR98NM_032119.3(GPR98): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
151PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
152PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
153PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantPathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
154USH1CNM_153676.3(USH1C): c.2167C> T (p.Gln723Ter)single nucleotide variantLikely pathogenicrs146451547GRCh37Chr 11, 17526211: 17526211
155USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
156CLRN1NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg)single nucleotide variantLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
157CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionPathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
158CLRN1NM_001195794.1(CLRN1): c.368C> A (p.Ala123Asp)single nucleotide variantPathogenicrs374963432GRCh37Chr 3, 150659434: 150659434
159USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
160USH2ANM_206933.2(USH2A): c.1036A> C (p.Asn346His)single nucleotide variantLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
161USH2ANM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter)single nucleotide variantLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
162USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)single nucleotide variantPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
163USH2ANM_206933.2(USH2A): c.10712C> T (p.Thr3571Met)single nucleotide variantLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
164USH2ANM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)single nucleotide variantLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
165USH2ANM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter)single nucleotide variantLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
166USH2ANM_206933.2(USH2A): c.11048-1G> Asingle nucleotide variantPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
167USH2ANM_206933.2(USH2A): c.11231+1G> Tsingle nucleotide variantLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
168USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
169USH2ANM_206933.2(USH2A): c.1143+1G> Asingle nucleotide variantPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
170USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)single nucleotide variantPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
171USH2ANM_206933.2(USH2A): c.12067-1G> Csingle nucleotide variantPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
172USH2ANM_206933.2(USH2A): c.12067-2A> Gsingle nucleotide variantPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
173USH2ANM_206933.2(USH2A): c.12295-2A> Gsingle nucleotide variantPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
174USH2ANM_206933.2(USH2A): c.1227G> C (p.Trp409Cys)single nucleotide variantLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
175USH2ANM_206933.2(USH2A): c.12294+1G> Csingle nucleotide variantLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
176USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)single nucleotide variantPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
177USH2ANM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg)single nucleotide variantLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
178USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)single nucleotide variantPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
179USH2ANM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)single nucleotide variantLikely pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
180USH2ANM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter)single nucleotide variantLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
181USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844415: 215844416
182USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)single nucleotide variantPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
183USH2ANM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg)single nucleotide variantLikely pathogenicrs397517990GRCh37Chr 1, 215823990: 215823990
184USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)single nucleotide variantPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
185USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)single nucleotide variantPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
186USH2ANM_206933.2(USH2A): c.1841-2A> Gsingle nucleotide variantPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
187USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
188USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)single nucleotide variantPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
189USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
190USH2ANM_206933.2(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionPathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
191USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
192USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
193USH2ANM_206933.2(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
194USH2ANM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258205: 216258206
195USH2ANM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser)single nucleotide variantLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
196USH2ANM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)single nucleotide variantPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
197USH2ANM_206933.2(USH2A): c.5857+2T> Csingle nucleotide variantPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
198USH2ANM_206933.2(USH2A): c.5858-1G> Asingle nucleotide variantPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
199USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)single nucleotide variantPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
200USH2ANM_206933.2(USH2A): c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
201USH2ANM_206933.2(USH2A): c.653T> A (p.Val218Glu)single nucleotide variantLikely pathogenicrs397518026GRCh37Chr 1, 216538426: 216538426
202USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)single nucleotide variantPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
203USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)single nucleotide variantPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
204USH2ANM_206933.2(USH2A): c.8431C> A (p.Pro2811Thr)single nucleotide variantLikely pathogenicrs111033529GRCh37Chr 1, 216052233: 216052233
205USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
206USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)single nucleotide variantPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
207USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)single nucleotide variantPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
208USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
209USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)single nucleotide variantPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
210USH2ANM_206933.2(USH2A): c.9371+1G> Csingle nucleotide variantPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
211USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)single nucleotide variantPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
212USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)single nucleotide variantPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
213USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)single nucleotide variantPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
214USH2ANM_206933.2(USH2A): c.9799T> C (p.Cys3267Arg)single nucleotide variantLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408
215CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
216CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
217CDH23CDH23, 3-BP DEL, 3841ATGdeletionPathogenic
218CDH23CDH23, IVS51, G-A, +5single nucleotide variantPathogenic
219NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
220CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
221CDH23CDH23, 1-BP DEL, 193CdeletionPathogenic
222PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
223PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantPathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
224PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
225PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
226PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
227PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)single nucleotide variantPathogenicrs137853004GRCh37Chr 10, 55849801: 55849801
228USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
229USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
230USH1CNM_153676.3: c.497-79_541-35[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548622: 17548711
231USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
232USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
233USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
234USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815
235USH1CNM_005709.3(USH1C): c.388G> A (p.Val130Ile)single nucleotide variantPathogenicrs55843567GRCh37Chr 11, 17548878: 17548878
236PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960
237GPR98NM_032119.3(GPR98): c.6901C> T (p.Gln2301Ter)single nucleotide variantPathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
238GPR98GPR98, 4-BP INSinsertionPathogenic
239GPR98GPR98, 1-BP DEL, 8790CdeletionPathogenic
240GPR98GPR98, 19-BP DELdeletionPathogenic
241GPR98NM_032119.3(GPR98): c.18131A> G (p.Tyr6044Cys)single nucleotide variantPathogenicrs121909763GRCh37Chr 5, 90281318: 90281318
242GPR98GPR98, 136-KB DEL, EX84-85deletionPathogenic
243GPR98GPR98, 13-BP DEL, NT2258deletionPathogenic
244GPR98GPR98, 2-BP DEL, 5356AAdeletionPathogenic
245MT-TS2m.12258C> Asingle nucleotide variantPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Expression for genes affiliated with Usher Syndrome

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Search GEO for disease gene expression data for Usher Syndrome.

Pathways for genes affiliated with Usher Syndrome

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Compounds for genes affiliated with Usher Syndrome

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GO Terms for genes affiliated with Usher Syndrome

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Cellular components related to Usher Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:004520210.0PCDH15, MYO7A, USH1C
2stereocilia ankle link complexGO:00021429.9DFNB31, GPR98, USH2A
3stereociliumGO:00324209.7CDH23, USH1C, DFNB31, MYO7A, PCDH15
4photoreceptor inner segmentGO:00019179.7USH1C, CIB2, MYO7A, PDC
5photoreceptor outer segmentGO:00017509.4PDC, USH1C, MYO7A, PCDH15

Biological processes related to Usher Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1maintenance of organ identityGO:004849610.2USH2A, GPR98
2inner ear morphogenesisGO:004247210.2USH1G, USH1C
3response to stimulusGO:005089610.1USH2A, CLRN1, CDH23
4inner ear receptor stereocilium organizationGO:006012210.0DFNB31, GPR98
5inner ear receptor cell differentiationGO:00601139.9USH1G, USH2A
6equilibrioceptionGO:00509579.7USH1C, USH1G, CLRN1, MYO7A, PCDH15, CDH23
7visual perceptionGO:00076019.5GPR98, CDH23, PDC, MYO7A, CLRN1, USH2A
8photoreceptor cell maintenanceGO:00454949.4GPR98, USH1C, USH1G, USH2A, CIB2, CLRN1
9sensory perception of light stimulusGO:00509539.2CLRN1, MYO7A, PCDH15, CDH23, DFNB31, USH2A
10sensory perception of soundGO:00076059.2USH1C, USH2A, DFNB31, CLRN1, MYO7A, PCDH15

Molecular functions related to Usher Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.2USH2A, GPR98
2calcium ion bindingGO:00055099.4CDH23, PCDH15, CIB2, EML1, GPR98
3protein bindingGO:00055158.1USH1G, USHBP1, USH1C, GPR98, USH2A, DFNB31

Products for genes affiliated with Usher Syndrome

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Sources for Usher Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet